# annotation

uniprotID: O95343
geneSymbol: SIX3
name: Homeobox protein SIX3 (Sine oculis homeobox homolog 3)
length: 332
go: ENSG00000138083;
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000250|UniProtKB:Q62233, ECO:0000255|PROSITE-ProRule:PRU00108}.
sequence:

opentargets:
nucleus [GO:0005634]; transcription factor complex [GO:0005667]; distal enhancer DNA-binding transcription activator activity, RNA polymerase II-specific [GO:0001205]; DNA-binding transcription factor activity [GO:0003700]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; histone deacetylase binding [GO:0042826]; RNA polymerase II distal enhancer sequence-specific DNA binding [GO:0000980]; signaling receptor binding [GO:0005102]; transcription coactivator activity [GO:0003713]; transcription corepressor binding [GO:0001222]; transcription regulatory region sequence-specific DNA binding [GO:0000976]; anatomical structure development [GO:0048856]; apoptotic process involved in development [GO:1902742]; brain development [GO:0007420]; cell proliferation in forebrain [GO:0021846]; circadian behavior [GO:0048512]; epithelial cell maturation [GO:0002070]; eye development [GO:0001654]; forebrain anterior/posterior pattern specification [GO:0021797]; forebrain dorsal/ventral pattern formation [GO:0021798]; lens development in camera-type eye [GO:0002088]; lens fiber cell apoptotic process [GO:1990086]; lens fiber cell differentiation [GO:0070306]; lens induction in camera-type eye [GO:0060235]; negative regulation of neuron differentiation [GO:0045665]; negative regulation of transcription, DNA-templated [GO:0045892]; negative regulation of Wnt signaling pathway [GO:0030178]; neuroblast differentiation [GO:0014016]; neuroblast migration [GO:0097402]; optic vesicle morphogenesis [GO:0003404]; pituitary gland development [GO:0021983]; protein import into nucleus, translocation [GO:0000060]; proximal/distal axis specification [GO:0009946]; regulation of cell cycle phase transition [GO:1901987]; regulation of cell proliferation [GO:0042127]; regulation of neural precursor cell proliferation [GO:2000177]; regulation of neural retina development [GO:0061074]; regulation of neuroblast proliferation [GO:1902692]; telencephalon development [GO:0021537]; telencephalon regionalization [GO:0021978]; visual perception [GO:0007601]

snps:
rs199823175 rs121917881 rs137853021 rs387906868 rs121917878 rs989286015 rs121917880 rs121917879 rs780942050 


uniprotID: Q9UIU6
geneSymbol: SIX4
name: Homeobox protein SIX4 (Sine oculis homeobox homolog 4)
length: 781
go: ENSG00000100625;
snps: rs750515774 rs3742636
sequence:

opentargets:
cytoplasm [GO:0005737]; nucleus [GO:0005634]; transcription factor complex [GO:0005667]; distal enhancer DNA-binding transcription activator activity, RNA polymerase II-specific [GO:0001205]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; proximal promoter DNA-binding transcription activator activity, RNA polymerase II-specific [GO:0001077]; RNA polymerase II proximal promoter sequence-specific DNA binding [GO:0000978]; transcription regulatory region sequence-specific DNA binding [GO:0000976]; anatomical structure development [GO:0048856]; anatomical structure morphogenesis [GO:0009653]; embryonic cranial skeleton morphogenesis [GO:0048701]; fungiform papilla morphogenesis [GO:0061197]; generation of neurons [GO:0048699]; inner ear morphogenesis [GO:0042472]; male gonad development [GO:0008584]; male sex determination [GO:0030238]; male sex differentiation [GO:0046661]; metanephric mesenchyme development [GO:0072075]; myoblast migration [GO:0051451]; myotome development [GO:0061055]; negative regulation of apoptotic process [GO:0043066]; negative regulation of neuron apoptotic process [GO:0043524]; negative regulation of satellite cell differentiation [GO:1902725]; negative regulation of transcription, DNA-templated [GO:0045892]; olfactory placode formation [GO:0030910]; pharyngeal system development [GO:0060037]; positive regulation of branching involved in ureteric bud morphogenesis [GO:0090190]; positive regulation of transcription, DNA-templated [GO:0045893]; positive regulation of ureteric bud formation [GO:0072107]; protein localization to nucleus [GO:0034504]; regulation of branch elongation involved in ureteric bud branching [GO:0072095]; regulation of epithelial cell proliferation [GO:0050678]; regulation of protein localization [GO:0032880]; regulation of synaptic growth at neuromuscular junction [GO:0008582]; sarcomere organization [GO:0045214]; skeletal muscle fiber differentiation [GO:0098528]; skeletal muscle tissue development [GO:0007519]; thymus development [GO:0048538]; tongue development [GO:0043586]; trigeminal ganglion development [GO:0061551]

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000250|UniProtKB:Q61321}. Cytoplasm {ECO:0000250|UniProtKB:Q61321}.


uniprotID: Q8N196
geneSymbol: SIX5
name: Homeobox protein SIX5 (DM locus-associated homeodomain protein) (Sine oculis homeobox homolog 5)
length: 739
go: ENSG00000177045;
snps: rs80356461 rs80356462 rs80356463 rs80356464 rs2014377 rs2014576 rs2341097
sequence:

opentargets:
cytoplasm [GO:0005737]; nucleus [GO:0005634]; transcription factor complex [GO:0005667]; distal enhancer DNA-binding transcription activator activity, RNA polymerase II-specific [GO:0001205]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; RNA polymerase II proximal promoter sequence-specific DNA binding [GO:0000978]; transcription regulatory region sequence-specific DNA binding [GO:0000976]; anatomical structure development [GO:0048856]; lens development in camera-type eye [GO:0002088]; negative regulation of skeletal muscle satellite cell proliferation [GO:1902723]; negative regulation of transcription, DNA-templated [GO:0045892]; spermatid development [GO:0007286]

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:12500905}. Nucleus {ECO:0000255|PROSITE-ProRule:PRU00108, ECO:0000269|PubMed:12500905}.


uniprotID: O95475
geneSymbol: SIX6
length: 246
go: ENSG00000184302;
snps: rs33912345 rs104894480
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000255|PROSITE-ProRule:PRU00108}.
name:
Homeobox protein SIX6 (Homeodomain protein OPTX2) (Optic homeobox 2) (Sine oculis homeobox homolog 6)

sequence:

opentargets:
nucleus [GO:0005634]; transcription factor complex [GO:0005667]; distal enhancer DNA-binding transcription activator activity, RNA polymerase II-specific [GO:0001205]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; transcription regulatory region sequence-specific DNA binding [GO:0000976]; anatomical structure development [GO:0048856]; animal organ morphogenesis [GO:0009887]; eye development [GO:0001654]; negative regulation of transcription, DNA-templated [GO:0045892]; visual perception [GO:0007601]


uniprotID: Q07837
geneSymbol: SLC3A1
reactome: R-HSA-352230;R-HSA-5619113;
length: 685
go: ENSG00000138079;
drug: DB00138;
name:
Neutral and basic amino acid transport protein rBAT (NBAT) (D2h) (Solute carrier family 3 member 1) (b(0,+)-type amino acid transport protein)

sequence:

opentargets:
brush border membrane [GO:0031526]; extracellular exosome [GO:0070062]; integral component of plasma membrane [GO:0005887]; membrane [GO:0016020]; plasma membrane [GO:0005886]; vacuolar membrane [GO:0005774]; amino acid transmembrane transporter activity [GO:0015171]; basic amino acid transmembrane transporter activity [GO:0015174]; catalytic activity [GO:0003824]; L-cystine transmembrane transporter activity [GO:0015184]; protein heterodimerization activity [GO:0046982]; amino acid transport [GO:0006865]; basic amino acid transport [GO:0015802]; carbohydrate metabolic process [GO:0005975]; cellular amino acid metabolic process [GO:0006520]; L-cystine transport [GO:0015811]

snps:
rs766947722 rs768848958 rs778354350 rs747660493 rs121912694 rs140317484 rs369641941 rs757239030 rs200287661 rs756887216 rs375399468 rs121912697 rs567478582 rs765828196 rs187962930 rs750912461 rs201502095 rs949704245 rs139251285 rs373852467 rs144162964 rs121912691 rs121912691 rs1032513393 rs778925791 rs368796166 rs376639206 rs776729515 rs759696513 rs146963107 rs141944551 rs121912696 rs698761 rs121912695 rs756823144 rs121912693 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=7;  Name=A; IsoId=Q07837-1; Sequence=Displayed; Name=B; IsoId=Q07837-2; Sequence=VSP_054339; Name=C; IsoId=Q07837-3; Sequence=VSP_054342, VSP_054343; Name=D; IsoId=Q07837-4; Sequence=VSP_054340, VSP_054341; Name=E; IsoId=Q07837-5; Sequence=VSP_054344, VSP_054345; Name=F; IsoId=Q07837-6; Sequence=VSP_054346, VSP_054349; Name=G; IsoId=Q07837-7; Sequence=VSP_054347, VSP_054348; 

location:
SUBCELLULAR LOCATION: Membrane {ECO:0000269|PubMed:12167606}; Single-pass type II membrane protein {ECO:0000269|PubMed:12167606}.


uniprotID: Q9UIB8
geneSymbol: CD84
reactome: R-HSA-202733;
pdb: 2PKD;
length: 345
go: ENSG00000066294;
name:
SLAM family member 5 (Cell surface antigen MAX.3) (Hly9-beta) (Leukocyte differentiation antigen CD84) (Signaling lymphocytic activation molecule 5) (CD antigen CD84)

sequence:

opentargets:
integral component of plasma membrane [GO:0005887]; plasma membrane [GO:0005886]; identical protein binding [GO:0042802]; adaptive immune response [GO:0002250]; autophagy [GO:0006914]; defense response [GO:0006952]; homophilic cell adhesion via plasma membrane adhesion molecules [GO:0007156]; innate immune response [GO:0045087]; leukocyte migration [GO:0050900]; negative regulation of granulocyte macrophage colony-stimulating factor production [GO:0032685]; negative regulation of interleukin-18 production [GO:0032701]; negative regulation of mast cell activation [GO:0033004]; negative regulation of mast cell degranulation [GO:0043305]; regulation of store-operated calcium entry [GO:2001256]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=7;  Name=1; Synonyms=CD84a; IsoId=Q9UIB8-1; Sequence=Displayed; Name=2; Synonyms=CD84b; IsoId=Q9UIB8-2; Sequence=VSP_020852; Name=3; Synonyms=CD84c; IsoId=Q9UIB8-3; Sequence=VSP_020851; Name=4; Synonyms=CD84e; IsoId=Q9UIB8-4; Sequence=VSP_020854, VSP_020856; Name=5; Synonyms=CD84d; IsoId=Q9UIB8-5; Sequence=VSP_020853, VSP_020855; Name=6; Synonyms=CD84s; IsoId=Q9UIB8-6; Sequence=VSP_020849, VSP_020850; Name=7; IsoId=Q9UIB8-7; Sequence=VSP_020848, VSP_020851; 

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:11389028, ECO:0000269|PubMed:12962726}; Single-pass type I membrane protein {ECO:0000269|PubMed:11389028, ECO:0000269|PubMed:12962726}.


uniprotID: P04179
geneSymbol: SOD2
reactome: R-HSA-2151201;R-HSA-3299685;R-HSA-8862803;R-HSA-8950505;
name: Superoxide dismutase [Mn], mitochondrial (EC 1.15.1.1)
length: 222
go: ENSG00000112096;
drug: DB04436;DB03297;
snps: rs5746096 rs4880 rs5746097 rs4987023 rs1141718 rs5746129
location: SUBCELLULAR LOCATION: Mitochondrion matrix.
pdb:
1AP5;1AP6;1EM1;1JA8;1LUV;1LUW;1MSD;1N0J;1N0N;1PL4;1PM9;1QNM;1SZX;1VAR;1XDC;1XIL;1ZSP;1ZTE;1ZUQ;2ADP;2ADQ;2GDS;2P4K;2QKA;2QKC;3C3S;3C3T;5GXO;5T30;5VF9;

sequence:

opentargets:
extracellular exosome [GO:0070062]; mitochondrial matrix [GO:0005759]; mitochondrion [GO:0005739]; identical protein binding [GO:0042802]; manganese ion binding [GO:0030145]; metal ion binding [GO:0046872]; superoxide dismutase activity [GO:0004784]; acetylcholine-mediated vasodilation involved in regulation of systemic arterial blood pressure [GO:0003069]; age-dependent response to reactive oxygen species [GO:0001315]; aging [GO:0007568]; cellular response to oxidative stress [GO:0034599]; interleukin-12-mediated signaling pathway [GO:0035722]; negative regulation of cell proliferation [GO:0008285]; negative regulation of neuron apoptotic process [GO:0043524]; negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway [GO:1902176]; negative regulation of vascular smooth muscle cell proliferation [GO:1904706]; oxygen homeostasis [GO:0032364]; positive regulation of cell migration [GO:0030335]; positive regulation of vascular associated smooth muscle cell apoptotic process [GO:1905461]; positive regulation of vascular smooth muscle cell differentiation involved in phenotypic switching [GO:1905932]; protein homotetramerization [GO:0051289]; regulation of blood pressure [GO:0008217]; regulation of transcription by RNA polymerase II [GO:0006357]; release of cytochrome c from mitochondria [GO:0001836]; removal of superoxide radicals [GO:0019430]; response to superoxide [GO:0000303]; superoxide metabolic process [GO:0006801]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=P04179-1; Sequence=Displayed; Name=2; IsoId=P04179-2; Sequence=VSP_042558; Note=No experimental confirmation available.; Name=3; IsoId=P04179-3; Sequence=VSP_053762; Note=No experimental confirmation available.; Name=4; IsoId=P04179-4; Sequence=VSP_053761; Note=No experimental confirmation available.; 


uniprotID: O94964
geneSymbol: SOGA1
length: 1423
go: ENSG00000149639;
snps: rs34459518
name:
Protein SOGA1 (SOGA family member 1) (Suppressor of glucose by autophagy) (Suppressor of glucose, autophagy-associated protein 1) [Cleaved into: N-terminal form; C-terminal 80 kDa form (80-kDa SOGA fragment)]

sequence:

opentargets:
extracellular exosome [GO:0070062]; extracellular space [GO:0005615]; insulin receptor signaling pathway [GO:0008286]; negative regulation of gluconeogenesis [GO:0045721]; regulation of autophagy [GO:0010506]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=O94964-1; Sequence=Displayed; Name=2; IsoId=O94964-2; Sequence=VSP_035977; Note=No experimental confirmation available. Gene prediction based on EST data.; Name=3; IsoId=O94964-3; Sequence=VSP_035976, VSP_035978, VSP_035979; Name=4; IsoId=O94964-4; Sequence=VSP_040825, VSP_040826; 

location:
SUBCELLULAR LOCATION: C-terminal 80 kDa form: Secreted {ECO:0000250}. Note=Secreted in primary hepatocyte-conditioned media. {ECO:0000250}.


uniprotID: Q5JUK2
geneSymbol: SOHLH1
name: Spermatogenesis- and oogenesis-specific basic helix-loop-helix-containing protein 1
length: 328
go: ENSG00000165643;
snps: rs199935200 rs471525 rs201142743 rs3119932
sequence:

opentargets:
cytoplasm [GO:0005737]; nucleus [GO:0005634]; DNA binding [GO:0003677]; DNA-binding transcription activator activity, RNA polymerase II-specific [GO:0001228]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; protein heterodimerization activity [GO:0046982]; protein homodimerization activity [GO:0042803]; cell differentiation [GO:0030154]; multicellular organism development [GO:0007275]; oocyte differentiation [GO:0009994]; spermatogenesis [GO:0007283]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q5JUK2-1; Sequence=Displayed; Name=2; IsoId=Q5JUK2-2; Sequence=VSP_039904; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250|UniProtKB:Q6IUP1}. Nucleus {ECO:0000250|UniProtKB:Q6IUP1, ECO:0000255|PROSITE-ProRule:PRU00981}.


uniprotID: P01241
geneSymbol: GH1
reactome: R-HSA-1170546;R-HSA-422085;R-HSA-982772;
pdb: 1A22;1AXI;1BP3;1HGU;1HUW;1HWG;1HWH;1KF9;3HHR;
name: Somatotropin (Growth hormone) (GH) (GH-N) (Growth hormone 1) (Pituitary growth hormone)
length: 217
go: ENSG00000259384;
location: SUBCELLULAR LOCATION: Secreted.
sequence:

opentargets:
endosome lumen [GO:0031904]; extracellular region [GO:0005576]; extracellular space [GO:0005615]; growth hormone receptor complex [GO:0070195]; growth factor activity [GO:0008083]; growth hormone receptor binding [GO:0005131]; hormone activity [GO:0005179]; metal ion binding [GO:0046872]; prolactin receptor binding [GO:0005148]; animal organ development [GO:0048513]; bone maturation [GO:0070977]; growth hormone receptor signaling pathway [GO:0060396]; JAK-STAT cascade involved in growth hormone signaling pathway [GO:0060397]; positive regulation of activation of Janus kinase activity [GO:0010536]; positive regulation of glucose transmembrane transport [GO:0010828]; positive regulation of growth [GO:0045927]; positive regulation of insulin-like growth factor receptor signaling pathway [GO:0043568]; positive regulation of JAK-STAT cascade [GO:0046427]; positive regulation of MAP kinase activity [GO:0043406]; positive regulation of multicellular organism growth [GO:0040018]; positive regulation of peptidyl-tyrosine phosphorylation [GO:0050731]; positive regulation of phosphatidylinositol 3-kinase signaling [GO:0014068]; positive regulation of tyrosine phosphorylation of STAT protein [GO:0042531]; response to estradiol [GO:0032355]; response to nutrient levels [GO:0031667]

snps:
rs2001345 rs71640273 rs71640276 rs137853222 rs137853220 rs6174 rs5388 rs137853221 rs148474991 rs137853223 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=5;  Comment=Additional isoforms seem to exist.; Name=1; Synonyms=22 kDa; IsoId=P01241-1; Sequence=Displayed; Name=2; Synonyms=20 kDa variant; IsoId=P01241-2; Sequence=VSP_006200; Name=3; IsoId=P01241-3; Sequence=VSP_006201; Name=4; IsoId=P01241-4; Sequence=VSP_006202; Name=5; IsoId=P01241-5; Sequence=VSP_045642; Note=No experimental confirmation available.; 


uniprotID: Q9UPU3
geneSymbol: SORCS3
name: VPS10 domain-containing receptor SorCS3
length: 1222
go: ENSG00000156395;
location: SUBCELLULAR LOCATION: Membrane; Single-pass type I membrane protein.
sequence:

opentargets:
glutamatergic synapse [GO:0098978]; integral component of postsynaptic density membrane [GO:0099061]; membrane [GO:0016020]; neuropeptide receptor activity [GO:0008188]; learning [GO:0007612]; memory [GO:0007613]; neuropeptide signaling pathway [GO:0007218]; regulation of long-term synaptic depression [GO:1900452]


uniprotID: P30626
geneSymbol: SRI
reactome: R-HSA-2672351;R-HSA-418359;R-HSA-425561;R-HSA-5578775;R-HSA-936837;
pdb: 1JUO;2JC2;4U8D;4UPG;4USL;5MRA;
name: Sorcin (22 kDa protein) (CP-22) (CP22) (V19)
length: 198
go: ENSG00000075142;
sequence:
MAYPGHPGAGGGYYPGGYGGAPGGPAFPGQTQDPLYGYFAAVAGQDGQIDADELQRCLTQSGIAGGYKPFNLETCRLMVSMLDRDMSGTMGFNEFKELWAVLNGWRQHFISFDTDRSGTVDPQELQKALTTMGFRLSPQAVNSIAKRYSTNGKITFDDYIACCVKLRALTDSFRRRDTAQQGVVNFPYDDFIQCVMSV

opentargets:
axon terminus [GO:0043679]; cytoplasm [GO:0005737]; cytosol [GO:0005829]; dendritic spine neck [GO:0044326]; endoplasmic reticulum membrane [GO:0005789]; extracellular exosome [GO:0070062]; membrane [GO:0016020]; mitochondrion [GO:0005739]; nucleoplasm [GO:0005654]; sarcoplasmic reticulum [GO:0016529]; sarcoplasmic reticulum membrane [GO:0033017]; smooth endoplasmic reticulum [GO:0005790]; T-tubule [GO:0030315]; Z disc [GO:0030018]; calcium channel regulator activity [GO:0005246]; calcium ion binding [GO:0005509]; identical protein binding [GO:0042802]; ion channel binding [GO:0044325]; protease binding [GO:0002020]; protein heterodimerization activity [GO:0046982]; repressing transcription factor binding [GO:0070491]; signaling receptor binding [GO:0005102]; action potential [GO:0001508]; calcium ion transport [GO:0006816]; cytoplasmic sequestering of transcription factor [GO:0042994]; heart development [GO:0007507]; intracellular sequestering of iron ion [GO:0006880]; muscle organ development [GO:0007517]; negative regulation of cardiac muscle contraction [GO:0055118]; negative regulation of heart rate [GO:0010459]; negative regulation of ryanodine-sensitive calcium-release channel activity [GO:0060315]; negative regulation of transcription regulatory region DNA binding [GO:2000678]; positive regulation of insulin secretion involved in cellular response to glucose stimulus [GO:0035774]; positive regulation of release of sequestered calcium ion into cytosol [GO:0051281]; regulation of calcium ion transport [GO:0051924]; regulation of cardiac muscle cell contraction [GO:0086004]; regulation of cell communication by electrical coupling [GO:0010649]; regulation of cell communication by electrical coupling involved in cardiac conduction [GO:1901844]; regulation of heart contraction [GO:0008016]; regulation of high voltage-gated calcium channel activity [GO:1901841]; regulation of relaxation of muscle [GO:1901077]; regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum [GO:0010880]; regulation of striated muscle contraction [GO:0006942]; signal transduction [GO:0007165]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=P30626-1; Sequence=Displayed; Name=2; IsoId=P30626-2; Sequence=VSP_046277; Note=No experimental confirmation available.; Name=3; IsoId=P30626-3; Sequence=VSP_046277, VSP_054463; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasm. Sarcoplasmic reticulum membrane; Peripheral membrane protein; Cytoplasmic side. Note=Relocates to the sarcoplasmic reticulum membrane in response to elevated calcium levels.


uniprotID: Q6X4U4
geneSymbol: SOSTDC1
length: 206
go: ENSG00000171243;
snps: rs34016012
location: SUBCELLULAR LOCATION: Secreted {ECO:0000269|PubMed:15020244}.
name:
Sclerostin domain-containing protein 1 (Ectodermal BMP inhibitor) (Ectodin) (Uterine sensitization-associated gene 1 protein) (USAG-1)

sequence:

opentargets:
extracellular space [GO:0005615]; BMP binding [GO:0036122]; BMP receptor activity [GO:0098821]; hair follicle morphogenesis [GO:0031069]; mammary gland bud morphogenesis [GO:0060648]; negative regulation of BMP signaling pathway [GO:0030514]; negative regulation of canonical Wnt signaling pathway [GO:0090090]; negative regulation of cell fate commitment [GO:0010454]; negative regulation of determination of dorsal identity [GO:2000016]; negative regulation of myoblast differentiation [GO:0045662]; negative regulation of Wnt signaling pathway [GO:0030178]; odontogenesis of dentin-containing tooth [GO:0042475]; pattern specification process [GO:0007389]; Wnt signaling pathway [GO:0016055]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q6X4U4-1; Sequence=Displayed; Name=2; IsoId=Q6X4U4-2; Sequence=VSP_054240; Note=No experimental confirmation available.; 


uniprotID: P56693
geneSymbol: SOX10
name: Transcription factor SOX-10
length: 466
go: ENSG00000100146;
snps: rs74315515 rs121909117 rs750566714 rs267607081
sequence:

opentargets:
chromatin [GO:0000785]; extrinsic component of mitochondrial outer membrane [GO:0031315]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; DNA binding [GO:0003677]; DNA-binding transcription activator activity, RNA polymerase II-specific [GO:0001228]; DNA-binding transcription factor activity [GO:0003700]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; identical protein binding [GO:0042802]; promoter-specific chromatin binding [GO:1990841]; RNA polymerase II distal enhancer sequence-specific DNA binding [GO:0000980]; RNA polymerase II proximal promoter sequence-specific DNA binding [GO:0000978]; transcription coactivator activity [GO:0003713]; transcription factor activity, RNA polymerase II distal enhancer sequence-specific binding [GO:0003705]; transcription factor binding [GO:0008134]; anatomical structure morphogenesis [GO:0009653]; cell maturation [GO:0048469]; cellular response to progesterone stimulus [GO:0071393]; central nervous system development [GO:0007417]; central nervous system myelination [GO:0022010]; developmental growth [GO:0048589]; digestive tract morphogenesis [GO:0048546]; enteric nervous system development [GO:0048484]; in utero embryonic development [GO:0001701]; lacrimal gland development [GO:0032808]; melanocyte differentiation [GO:0030318]; morphogenesis of a branching epithelium [GO:0061138]; morphogenesis of an epithelium [GO:0002009]; negative regulation of apoptotic process [GO:0043066]; negative regulation of canonical Wnt signaling pathway [GO:0090090]; negative regulation of Schwann cell proliferation [GO:0010626]; negative regulation of transcription, DNA-templated [GO:0045892]; neural crest cell migration [GO:0001755]; oligodendrocyte development [GO:0014003]; oligodendrocyte differentiation [GO:0048709]; peripheral nervous system development [GO:0007422]; positive regulation of gliogenesis [GO:0014015]; positive regulation of myelination [GO:0031643]; positive regulation of neuroblast proliferation [GO:0002052]; positive regulation of transcription by RNA polymerase II [GO:0045944]; positive regulation of transcription, DNA-templated [GO:0045893]; regulation of transcription by RNA polymerase II [GO:0006357]; transcription elongation from RNA polymerase II promoter [GO:0006368]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P56693-1; Sequence=Displayed; Name=2; IsoId=P56693-2; Sequence=VSP_053874; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:12138193}. Nucleus {ECO:0000269|PubMed:12138193}. Mitochondrion outer membrane {ECO:0000250|UniProtKB:Q04888}; Peripheral membrane protein {ECO:0000250|UniProtKB:Q04888}; Cytoplasmic side {ECO:0000250|UniProtKB:Q04888}.


uniprotID: O60248
geneSymbol: SOX15
name: Protein SOX-15 (Protein SOX-12) (Protein SOX-20)
length: 233
go: ENSG00000129194;
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000255|PROSITE-ProRule:PRU00267}.
sequence:

opentargets:
cytoplasm [GO:0005737]; nuclear transcription factor complex [GO:0044798]; nucleus [GO:0005634]; chromatin binding [GO:0003682]; DNA binding [GO:0003677]; DNA-binding transcription factor activity [GO:0003700]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; protein heterodimerization activity [GO:0046982]; proximal promoter DNA-binding transcription activator activity, RNA polymerase II-specific [GO:0001077]; cell differentiation [GO:0030154]; chromatin organization [GO:0006325]; male gonad development [GO:0008584]; myoblast development [GO:0048627]; negative regulation of striated muscle tissue development [GO:0045843]; negative regulation of transcription by RNA polymerase II [GO:0000122]; positive regulation of G0 to G1 transition [GO:0070318]; positive regulation of myoblast proliferation [GO:2000288]; positive regulation of satellite cell activation involved in skeletal muscle regeneration [GO:0014718]; positive regulation of transcription by RNA polymerase II [GO:0045944]; regulation of transcription by RNA polymerase II [GO:0006357]; regulation of transcription, DNA-templated [GO:0006355]; skeletal muscle tissue regeneration [GO:0043403]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=O60248-1; Sequence=Displayed; Name=2; IsoId=O60248-2; Sequence=VSP_056668; Note=No experimental confirmation available.; 


uniprotID: Q9H6I2
geneSymbol: SOX17
reactome: R-HSA-3769402;
pdb: 2YUL;4A3N;
name: Transcription factor SOX-17
length: 414
go: ENSG00000164736;
snps: rs189384157 rs267607082 rs267607083
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000255|PROSITE-ProRule:PRU00267}.
sequence:

opentargets:
nuclear transcription factor complex [GO:0044798]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; transcription factor complex [GO:0005667]; beta-catenin binding [GO:0008013]; DNA-binding transcription activator activity, RNA polymerase II-specific [GO:0001228]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; protein heterodimerization activity [GO:0046982]; sequence-specific DNA binding [GO:0043565]; transcription coactivator activity [GO:0003713]; transcription factor activity, RNA polymerase II distal enhancer sequence-specific binding [GO:0003705]; transcription factor binding [GO:0008134]; transcription regulatory region DNA binding [GO:0044212]; angiogenesis [GO:0001525]; canonical Wnt signaling pathway [GO:0060070]; cardiac cell fate determination [GO:0060913]; cardiogenic plate morphogenesis [GO:0003142]; cell differentiation [GO:0030154]; cell migration involved in gastrulation [GO:0042074]; cellular response to leukemia inhibitory factor [GO:1990830]; common bile duct development [GO:0061009]; embryonic foregut morphogenesis [GO:0048617]; embryonic heart tube development [GO:0035050]; embryonic heart tube morphogenesis [GO:0003143]; endocardial cell differentiation [GO:0060956]; endocardium formation [GO:0060214]; endoderm formation [GO:0001706]; endodermal cell fate determination [GO:0007493]; endodermal digestive tract morphogenesis [GO:0061031]; gall bladder development [GO:0061010]; heart formation [GO:0060914]; heart looping [GO:0001947]; inner cell mass cellular morphogenesis [GO:0001828]; mRNA transcription by RNA polymerase II [GO:0042789]; negative regulation of canonical Wnt signaling pathway [GO:0090090]; negative regulation of cell growth [GO:0030308]; negative regulation of mesodermal cell fate specification [GO:0042662]; negative regulation of transcription by RNA polymerase II [GO:0000122]; negative regulation of Wnt signaling pathway involved in heart development [GO:0003308]; outflow tract morphogenesis [GO:0003151]; positive regulation of cell differentiation [GO:0045597]; positive regulation of protein catabolic process [GO:0045732]; positive regulation of skeletal muscle tissue development [GO:0048643]; positive regulation of transcription by RNA polymerase II [GO:0045944]; positive regulation of transcription, DNA-templated [GO:0045893]; protein destabilization [GO:0031648]; protein stabilization [GO:0050821]; regulation of cardiac cell fate specification [GO:2000043]; regulation of embryonic development [GO:0045995]; regulation of stem cell division [GO:2000035]; regulation of stem cell proliferation [GO:0072091]; regulation of transcription from RNA polymerase II promoter involved in definitive endodermal cell fate specification [GO:0060807]; regulation of transcription, DNA-templated [GO:0006355]; renal system development [GO:0072001]; rostrocaudal neural tube patterning [GO:0021903]; signal transduction involved in regulation of gene expression [GO:0023019]; spermatogenesis [GO:0007283]; stem cell fate specification [GO:0048866]; vasculogenesis [GO:0001570]


uniprotID: P35713
geneSymbol: SOX18
name: Transcription factor SOX-18
length: 384
go: ENSG00000203883;
snps: rs28936693 rs28936692
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000255|PROSITE-ProRule:PRU00267}.
sequence:

opentargets:
nuclear chromatin [GO:0000790]; nuclear transcription factor complex [GO:0044798]; nucleus [GO:0005634]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; protein heterodimerization activity [GO:0046982]; proximal promoter DNA-binding transcription activator activity, RNA polymerase II-specific [GO:0001077]; RNA polymerase II proximal promoter sequence-specific DNA binding [GO:0000978]; transcription regulatory region DNA binding [GO:0044212]; angiogenesis [GO:0001525]; blood vessel endothelial cell migration [GO:0043534]; cell differentiation [GO:0030154]; cell maturation [GO:0048469]; embryonic heart tube development [GO:0035050]; endocardial cell differentiation [GO:0060956]; endocardium formation [GO:0060214]; establishment of endothelial barrier [GO:0061028]; hair cycle process [GO:0022405]; hair follicle development [GO:0001942]; heart looping [GO:0001947]; in utero embryonic development [GO:0001701]; lymphangiogenesis [GO:0001946]; lymphatic endothelial cell differentiation [GO:0060836]; mRNA transcription by RNA polymerase II [GO:0042789]; negative regulation of transcription by RNA polymerase II [GO:0000122]; negative regulation of transcription, DNA-templated [GO:0045892]; outflow tract morphogenesis [GO:0003151]; positive regulation of transcription by RNA polymerase II [GO:0045944]; positive regulation of transcription, DNA-templated [GO:0045893]; regulation of stem cell proliferation [GO:0072091]; regulation of transcription, DNA-templated [GO:0006355]; stem cell fate specification [GO:0048866]; vasculature development [GO:0001944]; vasculogenesis [GO:0001570]


uniprotID: Q9Y651
geneSymbol: SOX21
name: Transcription factor SOX-21 (SOX-A)
length: 276
go: ENSG00000125285;
snps: rs6492735
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000255|PROSITE-ProRule:PRU00267}.
sequence:

opentargets:
nuclear transcription factor complex [GO:0044798]; nucleus [GO:0005634]; DNA binding [GO:0003677]; DNA-binding transcription factor activity [GO:0003700]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; proximal promoter DNA-binding transcription activator activity, RNA polymerase II-specific [GO:0001077]; RNA polymerase II proximal promoter sequence-specific DNA binding [GO:0000978]; cell differentiation [GO:0030154]; hair follicle development [GO:0001942]; negative regulation of transcription by RNA polymerase II [GO:0000122]; positive regulation of transcription by RNA polymerase II [GO:0045944]; regulation of transcription by RNA polymerase II [GO:0006357]; regulation of transcription, DNA-templated [GO:0006355]; stem cell differentiation [GO:0048863]


uniprotID: P48431
geneSymbol: SOX2
reactome: R-HSA-2892245;R-HSA-2892247;R-HSA-3769402;R-HSA-452723;R-HSA-6785807;
pdb: 1O4X;2LE4;
name: Transcription factor SOX-2
length: 317
go: ENSG00000181449;
snps: rs104893805
location: SUBCELLULAR LOCATION: Nucleus.
sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; nuclear transcription factor complex [GO:0044798]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; transcription factor complex [GO:0005667]; DNA binding [GO:0003677]; DNA-binding transcription factor activity [GO:0003700]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; miRNA binding [GO:0035198]; proximal promoter DNA-binding transcription activator activity, RNA polymerase II-specific [GO:0001077]; sequence-specific DNA binding [GO:0043565]; transcription regulatory region DNA binding [GO:0044212]; transcription regulatory region sequence-specific DNA binding [GO:0000976]; adenohypophysis development [GO:0021984]; cell cycle arrest [GO:0007050]; cell differentiation [GO:0030154]; cell fate commitment [GO:0045165]; chromatin organization [GO:0006325]; cytokine-mediated signaling pathway [GO:0019221]; endodermal cell fate specification [GO:0001714]; eye development [GO:0001654]; forebrain development [GO:0030900]; glial cell fate commitment [GO:0021781]; inner ear development [GO:0048839]; negative regulation of canonical Wnt signaling pathway [GO:0090090]; negative regulation of epithelial cell proliferation [GO:0050680]; negative regulation of neuron differentiation [GO:0045665]; negative regulation of transcription by RNA polymerase II [GO:0000122]; neuronal stem cell population maintenance [GO:0097150]; osteoblast differentiation [GO:0001649]; pituitary gland development [GO:0021983]; positive regulation of cell differentiation [GO:0045597]; positive regulation of cell-cell adhesion [GO:0022409]; positive regulation of MAPK cascade [GO:0043410]; positive regulation of transcription by RNA polymerase II [GO:0045944]; positive regulation of transcription, DNA-templated [GO:0045893]; regulation of cysteine-type endopeptidase activity involved in apoptotic process [GO:0043281]; regulation of gene expression [GO:0010468]; regulation of transcription, DNA-templated [GO:0006355]; response to growth factor [GO:0070848]; response to wounding [GO:0009611]; somatic stem cell population maintenance [GO:0035019]; tissue regeneration [GO:0042246]


uniprotID: O94993
geneSymbol: SOX30
name: Transcription factor SOX-30
length: 753
go: ENSG00000039600;
snps: rs12188040 rs889057
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000255|PROSITE-ProRule:PRU00267, ECO:0000269|PubMed:10359848}.
sequence:

opentargets:
nucleus [GO:0005634]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; sequence-specific DNA binding [GO:0043565]; regulation of transcription by RNA polymerase II [GO:0006357]; response to corticosteroid [GO:0031960]; spermatogenesis [GO:0007283]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=O94993-1; Sequence=Displayed; Name=2; IsoId=O94993-2; Sequence=VSP_002205, VSP_002206; 


uniprotID: P37840
geneSymbol: SNCA
reactome: R-HSA-977225;
name: Alpha-synuclein (Non-A beta component of AD amyloid) (Non-A4 component of amyloid precursor) (NACP)
length: 140
go: ENSG00000145335;
snps: rs104893878 rs104893875 rs201106962 rs104893877
pdb:
1XQ8;2JN5;2KKW;2M55;2N0A;2X6M;3Q25;3Q26;3Q27;3Q28;3Q29;4BXL;4R0U;4R0W;4RIK;4RIL;4ZNN;5CRW;6A6B;6CU7;6CU8;6FLT;6H6B;

sequence:
MDVFMKGLSKAKEGVVAAAEKTKQGVAEAAGKTKEGVLYVGSKTKEGVVHGVATVAEKTKEQVTNVGGAVVTGVTAVAQKTVEGAGSIAAATGFVKKDQLGKNEEGAPQEGILEDMPVDPDNEAYEMPSEEGYQDYEPEA

opentargets:
actin cytoskeleton [GO:0015629]; axon [GO:0030424]; cell cortex [GO:0005938]; cell junction [GO:0030054]; cytoplasm [GO:0005737]; cytosol [GO:0005829]; extracellular region [GO:0005576]; extracellular space [GO:0005615]; Golgi apparatus [GO:0005794]; growth cone [GO:0030426]; inclusion body [GO:0016234]; lysosome [GO:0005764]; membrane [GO:0016020]; mitochondrial inner membrane [GO:0005743]; mitochondrial intermembrane space [GO:0005758]; mitochondrial matrix [GO:0005759]; mitochondrial outer membrane [GO:0005741]; mitochondrion [GO:0005739]; neuronal cell body [GO:0043025]; nuclear outer membrane [GO:0005640]; nucleus [GO:0005634]; perinuclear region of cytoplasm [GO:0048471]; plasma membrane [GO:0005886]; postsynapse [GO:0098794]; ribosome [GO:0005840]; rough endoplasmic reticulum [GO:0005791]; supramolecular fiber [GO:0099512]; synaptic vesicle membrane [GO:0030672]; terminal bouton [GO:0043195]; actin binding [GO:0003779]; alpha-tubulin binding [GO:0043014]; beta-tubulin binding [GO:0048487]; calcium ion binding [GO:0005509]; copper ion binding [GO:0005507]; cuprous ion binding [GO:1903136]; cysteine-type endopeptidase inhibitor activity involved in apoptotic process [GO:0043027]; dynein complex binding [GO:0070840]; ferrous iron binding [GO:0008198]; histone binding [GO:0042393]; Hsp70 protein binding [GO:0030544]; identical protein binding [GO:0042802]; kinesin binding [GO:0019894]; magnesium ion binding [GO:0000287]; microtubule binding [GO:0008017]; oxidoreductase activity [GO:0016491]; phospholipase binding [GO:0043274]; phospholipid binding [GO:0005543]; phosphoprotein binding [GO:0051219]; protein domain specific binding [GO:0019904]; protein N-terminus binding [GO:0047485]; tau protein binding [GO:0048156]; transcription regulatory region DNA binding [GO:0044212]; zinc ion binding [GO:0008270]; activation of cysteine-type endopeptidase activity involved in apoptotic process [GO:0006919]; adult locomotory behavior [GO:0008344]; aging [GO:0007568]; behavioral response to cocaine [GO:0048148]; cellular protein metabolic process [GO:0044267]; cellular response to copper ion [GO:0071280]; cellular response to epinephrine stimulus [GO:0071872]; cellular response to fibroblast growth factor stimulus [GO:0044344]; cellular response to oxidative stress [GO:0034599]; dopamine biosynthetic process [GO:0042416]; dopamine uptake involved in synaptic transmission [GO:0051583]; excitatory postsynaptic potential [GO:0060079]; fatty acid metabolic process [GO:0006631]; long-term synaptic potentiation [GO:0060291]; microglial cell activation [GO:0001774]; mitochondrial ATP synthesis coupled electron transport [GO:0042775]; mitochondrial membrane organization [GO:0007006]; negative regulation of apoptotic process [GO:0043066]; negative regulation of chaperone-mediated autophagy [GO:1904715]; negative regulation of cysteine-type endopeptidase activity involved in apoptotic process [GO:0043154]; negative regulation of dopamine metabolic process [GO:0045963]; negative regulation of dopamine uptake involved in synaptic transmission [GO:0051585]; negative regulation of exocytosis [GO:0045920]; negative regulation of histone acetylation [GO:0035067]; negative regulation of microtubule polymerization [GO:0031115]; negative regulation of mitochondrial electron transport, NADH to ubiquinone [GO:1902957]; negative regulation of monooxygenase activity [GO:0032769]; negative regulation of neuron apoptotic process [GO:0043524]; negative regulation of neuron death [GO:1901215]; negative regulation of norepinephrine uptake [GO:0051622]; negative regulation of platelet-derived growth factor receptor signaling pathway [GO:0010642]; negative regulation of protein phosphorylation [GO:0001933]; negative regulation of serotonin uptake [GO:0051612]; negative regulation of thrombin-activated receptor signaling pathway [GO:0070495]; negative regulation of transcription by RNA polymerase II [GO:0000122]; negative regulation of transporter activity [GO:0032410]; neutral lipid metabolic process [GO:0006638]; oxidation-reduction process [GO:0055114]; phospholipid metabolic process [GO:0006644]; positive regulation of apoptotic process [GO:0043065]; positive regulation of endocytosis [GO:0045807]; positive regulation of glutathione peroxidase activity [GO:1903284]; positive regulation of hydrogen peroxide catabolic process [GO:1903285]; positive regulation of inflammatory response [GO:0050729]; positive regulation of inositol phosphate biosynthetic process [GO:0060732]; positive regulation of neuron death [GO:1901216]; positive regulation of neurotransmitter secretion [GO:0001956]; positive regulation of peptidyl-serine phosphorylation [GO:0033138]; positive regulation of protein serine/threonine kinase activity [GO:0071902]; positive regulation of receptor recycling [GO:0001921]; positive regulation of release of sequestered calcium ion into cytosol [GO:0051281]; protein destabilization [GO:0031648]; receptor internalization [GO:0031623]; regulation of acyl-CoA biosynthetic process [GO:0050812]; regulation of dopamine secretion [GO:0014059]; regulation of glutamate secretion [GO:0014048]; regulation of locomotion [GO:0040012]; regulation of long-term neuronal synaptic plasticity [GO:0048169]; regulation of macrophage activation [GO:0043030]; regulation of norepinephrine uptake [GO:0051621]; regulation of phospholipase activity [GO:0010517]; regulation of presynapse assembly [GO:1905606]; regulation of reactive oxygen species biosynthetic process [GO:1903426]; regulation of synaptic vesicle recycling [GO:1903421]; regulation of transmembrane transporter activity [GO:0022898]; response to desipramine [GO:1904307]; response to interferon-gamma [GO:0034341]; response to interleukin-1 [GO:0070555]; response to iron(II) ion [GO:0010040]; response to lipopolysaccharide [GO:0032496]; response to magnesium ion [GO:0032026]; supramolecular fiber organization [GO:0097435]; synapse organization [GO:0050808]; synaptic vesicle endocytosis [GO:0048488]; synaptic vesicle transport [GO:0048489]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Comment=Additional isoforms seem to exist.; Name=1; Synonyms=NACP140; IsoId=P37840-1; Sequence=Displayed; Name=2-4; Synonyms=NACP112; IsoId=P37840-2; Sequence=VSP_006364; Name=2-5; IsoId=P37840-3; Sequence=VSP_006363; 

location:
SUBCELLULAR LOCATION: Cytoplasm, cytosol {ECO:0000269|PubMed:24936070, ECO:0000269|PubMed:25561023}. Membrane {ECO:0000269|PubMed:24936070}. Nucleus {ECO:0000269|PubMed:12859192, ECO:0000269|PubMed:24936070}. Cell junction, synapse {ECO:0000269|PubMed:15282274}. Secreted {ECO:0000269|PubMed:24936070}. Note=Membrane-bound in dopaminergic neurons. {ECO:0000269|PubMed:15282274}.


uniprotID: P35712
geneSymbol: SOX6
reactome: R-HSA-3769402;
name: Transcription factor SOX-6
length: 828
go: ENSG00000110693;
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000255|PROSITE-ProRule:PRU00267, ECO:0000269|PubMed:16442531}.
sequence:

opentargets:
nucleoplasm [GO:0005654]; nucleus [GO:0005634]; DNA binding [GO:0003677]; DNA-binding transcription factor activity [GO:0003700]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; protein heterodimerization activity [GO:0046982]; proximal promoter DNA-binding transcription repressor activity, RNA polymerase II-specific [GO:0001078]; RNA polymerase II proximal promoter sequence-specific DNA binding [GO:0000978]; astrocyte differentiation [GO:0048708]; cardiac muscle cell differentiation [GO:0055007]; cartilage development [GO:0051216]; cell fate commitment [GO:0045165]; cell morphogenesis [GO:0000902]; cellular response to transforming growth factor beta stimulus [GO:0071560]; erythrocyte development [GO:0048821]; gene silencing [GO:0016458]; in utero embryonic development [GO:0001701]; muscle organ development [GO:0007517]; negative regulation of cardiac muscle cell differentiation [GO:2000726]; negative regulation of transcription, DNA-templated [GO:0045892]; oligodendrocyte cell fate specification [GO:0021778]; positive regulation of cartilage development [GO:0061036]; positive regulation of chondrocyte differentiation [GO:0032332]; positive regulation of mesenchymal stem cell differentiation [GO:2000741]; positive regulation of transcription by RNA polymerase II [GO:0045944]; post-embryonic development [GO:0009791]; regulation of transcription, DNA-templated [GO:0006355]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=P35712-1; Sequence=Displayed; Name=2; IsoId=P35712-2; Sequence=VSP_039693, VSP_039694, VSP_039695; Name=3; IsoId=P35712-3; Sequence=VSP_039696; Name=4; IsoId=P35712-4; Sequence=VSP_039694, VSP_039695; Note=No experimental confirmation available.; 


uniprotID: Q16143
geneSymbol: SNCB
reactome: R-HSA-5660489;
name: Beta-synuclein
length: 134
go: ENSG00000074317;
location: SUBCELLULAR LOCATION: Cytoplasm.
sequence:
MDVFMKGLSMAKEGVVAAAEKTKQGVTEAAEKTKEGVLYVGSKTREGVVQGVASVAEKTKEQASHLGGAVFSGAGNIAAATGLVKREEFPTDLKPEEVAQEAAEEPLIEPLMEPEGESYEDPPQEEYQEYEPEA

opentargets:
cytosol [GO:0005829]; inclusion body [GO:0016234]; presynapse [GO:0098793]; calcium ion binding [GO:0005509]; cuprous ion binding [GO:1903136]; phospholipase inhibitor activity [GO:0004859]; transition metal ion binding [GO:0046914]; chemical synaptic transmission [GO:0007268]; dopamine metabolic process [GO:0042417]; negative regulation of neuron apoptotic process [GO:0043524]; response to metal ion [GO:0010038]; synapse organization [GO:0050808]; synaptic vesicle endocytosis [GO:0048488]


uniprotID: P48436
geneSymbol: SOX9
reactome: R-HSA-3769402;R-HSA-8878166;
pdb: 1S9M;1SX9;4EUW;
name: Transcription factor SOX-9
length: 509
go: ENSG00000125398;
snps: rs137853128 rs1407667250 rs137853129 rs137853130 rs28940282 rs2229989 rs1131691554 rs104894647
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000255|PROSITE-ProRule:PRU00267}.
sequence:

opentargets:
nuclear transcription factor complex [GO:0044798]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; protein-containing complex [GO:0032991]; beta-catenin binding [GO:0008013]; bHLH transcription factor binding [GO:0043425]; chromatin binding [GO:0003682]; DNA-binding transcription activator activity, RNA polymerase II-specific [GO:0001228]; DNA-binding transcription factor activity [GO:0003700]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; enhancer binding [GO:0035326]; enhancer sequence-specific DNA binding [GO:0001158]; pre-mRNA intronic binding [GO:0097157]; protein heterodimerization activity [GO:0046982]; protein kinase A catalytic subunit binding [GO:0034236]; protein kinase activity [GO:0004672]; proximal promoter DNA-binding transcription activator activity, RNA polymerase II-specific [GO:0001077]; RNA polymerase II proximal promoter sequence-specific DNA binding [GO:0000978]; transcription factor activity, RNA polymerase II distal enhancer sequence-specific binding [GO:0003705]; anterior head development [GO:0097065]; aortic valve morphogenesis [GO:0003180]; astrocyte fate commitment [GO:0060018]; branching involved in ureteric bud morphogenesis [GO:0001658]; bronchus cartilage development [GO:0060532]; cAMP-mediated signaling [GO:0019933]; cartilage condensation [GO:0001502]; cartilage development [GO:0051216]; cell fate specification [GO:0001708]; cell-cell adhesion [GO:0098609]; cellular response to BMP stimulus [GO:0071773]; cellular response to epidermal growth factor stimulus [GO:0071364]; cellular response to heparin [GO:0071504]; cellular response to interleukin-1 [GO:0071347]; cellular response to mechanical stimulus [GO:0071260]; cellular response to retinoic acid [GO:0071300]; cellular response to transforming growth factor beta stimulus [GO:0071560]; central nervous system development [GO:0007417]; chondrocyte differentiation [GO:0002062]; chondrocyte differentiation involved in endochondral bone morphogenesis [GO:0003413]; chondrocyte hypertrophy [GO:0003415]; chromatin remodeling [GO:0006338]; cochlea morphogenesis [GO:0090103]; cytoskeleton organization [GO:0007010]; endocardial cushion morphogenesis [GO:0003203]; endocrine pancreas development [GO:0031018]; epidermal growth factor receptor signaling pathway [GO:0007173]; epithelial cell proliferation involved in prostatic bud elongation [GO:0060517]; epithelial to mesenchymal transition [GO:0001837]; epithelial tube branching involved in lung morphogenesis [GO:0060441]; ERK1 and ERK2 cascade [GO:0070371]; extracellular matrix organization [GO:0030198]; hair follicle development [GO:0001942]; Harderian gland development [GO:0070384]; heart development [GO:0007507]; heart valve development [GO:0003170]; heart valve formation [GO:0003188]; heart valve morphogenesis [GO:0003179]; intestinal epithelial structure maintenance [GO:0060729]; intrahepatic bile duct development [GO:0035622]; lacrimal gland development [GO:0032808]; limb bud formation [GO:0060174]; lung epithelial cell differentiation [GO:0060487]; lung smooth muscle development [GO:0061145]; male germ-line sex determination [GO:0019100]; male gonad development [GO:0008584]; mammary gland development [GO:0030879]; metanephric nephron tubule formation [GO:0072289]; morphogenesis of a branching epithelium [GO:0061138]; morphogenesis of an epithelium [GO:0002009]; negative regulation of apoptotic process [GO:0043066]; negative regulation of biomineral tissue development [GO:0070168]; negative regulation of bone mineralization [GO:0030502]; negative regulation of canonical Wnt signaling pathway [GO:0090090]; negative regulation of chondrocyte differentiation [GO:0032331]; negative regulation of epithelial cell differentiation [GO:0030857]; negative regulation of epithelial cell proliferation [GO:0050680]; negative regulation of immune system process [GO:0002683]; negative regulation of mesenchymal cell apoptotic process [GO:2001054]; negative regulation of myoblast differentiation [GO:0045662]; negative regulation of ossification [GO:0030279]; negative regulation of photoreceptor cell differentiation [GO:0046533]; negative regulation of pri-miRNA transcription by RNA polymerase II [GO:1902894]; negative regulation of transcription, DNA-templated [GO:0045892]; neural crest cell development [GO:0014032]; neural crest cell fate specification [GO:0014036]; Notch signaling pathway [GO:0007219]; notochord development [GO:0030903]; nucleosome assembly [GO:0006334]; oligodendrocyte differentiation [GO:0048709]; ossification [GO:0001503]; otic vesicle formation [GO:0030916]; positive regulation of branching involved in ureteric bud morphogenesis [GO:0090190]; positive regulation of cartilage development [GO:0061036]; positive regulation of cell proliferation [GO:0008284]; positive regulation of cell proliferation involved in heart morphogenesis [GO:2000138]; positive regulation of chondrocyte differentiation [GO:0032332]; positive regulation of epithelial cell differentiation [GO:0030858]; positive regulation of epithelial cell migration [GO:0010634]; positive regulation of epithelial cell proliferation [GO:0050679]; positive regulation of extracellular matrix assembly [GO:1901203]; positive regulation of kidney development [GO:0090184]; positive regulation of male gonad development [GO:2000020]; positive regulation of mesenchymal cell proliferation [GO:0002053]; positive regulation of mesenchymal stem cell differentiation [GO:2000741]; positive regulation of phosphatidylinositol 3-kinase signaling [GO:0014068]; positive regulation of protein catabolic process [GO:0045732]; positive regulation of protein phosphorylation [GO:0001934]; positive regulation of transcription by RNA polymerase II [GO:0045944]; positive regulation of transcription, DNA-templated [GO:0045893]; prostate gland development [GO:0030850]; protein kinase B signaling [GO:0043491]; protein localization to nucleus [GO:0034504]; protein-containing complex assembly [GO:0065003]; regulation of apoptotic process [GO:0042981]; regulation of branching involved in lung morphogenesis [GO:0061046]; regulation of cell adhesion [GO:0030155]; regulation of cell cycle process [GO:0010564]; regulation of cell proliferation [GO:0042127]; regulation of cell proliferation involved in tissue homeostasis [GO:0060784]; regulation of epithelial cell proliferation involved in lung morphogenesis [GO:2000794]; renal vesicle induction [GO:0072034]; retina development in camera-type eye [GO:0060041]; retinal rod cell differentiation [GO:0060221]; Sertoli cell development [GO:0060009]; Sertoli cell differentiation [GO:0060008]; signal transduction [GO:0007165]; skeletal system development [GO:0001501]; somatic stem cell population maintenance [GO:0035019]; spermatogenesis [GO:0007283]; tissue homeostasis [GO:0001894]; trachea cartilage development [GO:0060534]; transcription initiation from RNA polymerase II promoter [GO:0006367]; ureter morphogenesis [GO:0072197]; ureter smooth muscle cell differentiation [GO:0072193]; ureter urothelium development [GO:0072190]


uniprotID: Q5ST30
geneSymbol: VARS2
reactome: R-HSA-379726;
length: 1063
go: ENSG00000137411;
location: SUBCELLULAR LOCATION: Mitochondrion {ECO:0000305}.
name:
Valine--tRNA ligase, mitochondrial (EC 6.1.1.9) (Valyl-tRNA synthetase) (ValRS) (Valyl-tRNA synthetase-like)

sequence:

opentargets:
cytosol [GO:0005829]; mitochondrion [GO:0005739]; aminoacyl-tRNA editing activity [GO:0002161]; ATP binding [GO:0005524]; valine-tRNA ligase activity [GO:0004832]; valyl-tRNA aminoacylation [GO:0006438]

snps:
rs6926224 rs6926723 rs587777585 rs587777583 rs2249464 rs587777584 rs2074506 rs55865499 rs9394021 rs2252863 rs4678 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=Q5ST30-1; Sequence=Displayed; Name=2; IsoId=Q5ST30-2; Sequence=VSP_034032; Note=No experimental confirmation available.; Name=3; IsoId=Q5ST30-3; Sequence=VSP_045483; Note=No experimental confirmation available.; Name=4; IsoId=Q5ST30-4; Sequence=VSP_046102; Note=No experimental confirmation available.; 


uniprotID: Q86TM6
geneSymbol: SYVN1
reactome: R-HSA-381038;R-HSA-5358346;R-HSA-5362768;R-HSA-901032;
length: 617
go: ENSG00000162298;
name:
E3 ubiquitin-protein ligase synoviolin (EC 2.3.2.27) (RING-type E3 ubiquitin transferase synoviolin) (Synovial apoptosis inhibitor 1)

sequence:

opentargets:
Derlin-1 retrotranslocation complex [GO:0036513]; endoplasmic reticulum [GO:0005783]; endoplasmic reticulum membrane [GO:0005789]; endoplasmic reticulum quality control compartment [GO:0044322]; Hrd1p ubiquitin ligase complex [GO:0000836]; Hrd1p ubiquitin ligase ERAD-L complex [GO:0000839]; integral component of endoplasmic reticulum membrane [GO:0030176]; membrane [GO:0016020]; nucleoplasm [GO:0005654]; smooth endoplasmic reticulum [GO:0005790]; ATPase binding [GO:0051117]; chaperone binding [GO:0051087]; metal ion binding [GO:0046872]; ubiquitin protein ligase activity [GO:0061630]; ubiquitin-specific protease binding [GO:1990381]; unfolded protein binding [GO:0051082]; endoplasmic reticulum mannose trimming [GO:1904380]; endoplasmic reticulum unfolded protein response [GO:0030968]; ERAD pathway [GO:0036503]; IRE1-mediated unfolded protein response [GO:0036498]; negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway [GO:1902236]; protein K48-linked ubiquitination [GO:0070936]; protein N-linked glycosylation via asparagine [GO:0018279]; protein stabilization [GO:0050821]; protein ubiquitination [GO:0016567]; retrograde protein transport, ER to cytosol [GO:0030970]; ubiquitin-dependent ERAD pathway [GO:0030433]; ubiquitin-dependent protein catabolic process [GO:0006511]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; Synonyms=b, long; IsoId=Q86TM6-1; Sequence=Displayed; Name=2; IsoId=Q86TM6-2; Sequence=VSP_023777, VSP_023778; Name=3; Synonyms=a, short; IsoId=Q86TM6-3; Sequence=VSP_023778; 

location:
SUBCELLULAR LOCATION: Endoplasmic reticulum membrane {ECO:0000269|PubMed:12459480, ECO:0000269|PubMed:12646171, ECO:0000269|PubMed:14593114, ECO:0000269|PubMed:16186510, ECO:0000269|PubMed:26471130}; Multi-pass membrane protein {ECO:0000269|PubMed:12459480, ECO:0000269|PubMed:12646171, ECO:0000269|PubMed:14593114, ECO:0000269|PubMed:16186510}.


uniprotID: Q9P0Z9
geneSymbol: PIPOX
reactome: R-HSA-71064;R-HSA-9033241;
length: 390
go: ENSG00000179761;
drug: DB00145;
location: SUBCELLULAR LOCATION: Peroxisome.
name:
Peroxisomal sarcosine oxidase (PSO) (EC 1.5.3.1) (EC 1.5.3.7) (L-pipecolate oxidase) (L-pipecolic acid oxidase)

sequence:

opentargets:
cytosol [GO:0005829]; peroxisomal matrix [GO:0005782]; peroxisome [GO:0005777]; L-pipecolate oxidase activity [GO:0050031]; sarcosine oxidase activity [GO:0008115]; signaling receptor binding [GO:0005102]; L-lysine catabolic process to acetyl-CoA via L-pipecolate [GO:0033514]; lysine catabolic process [GO:0006554]; oxidation-reduction process [GO:0055114]; protein targeting to peroxisome [GO:0006625]; tetrahydrofolate metabolic process [GO:0046653]


uniprotID: Q9H0E3
geneSymbol: SAP130
reactome: R-HSA-3214847;R-HSA-427413;
length: 1048
go: ENSG00000136715;
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:15561718}.
name:
Histone deacetylase complex subunit SAP130 (130 kDa Sin3-associated polypeptide) (Sin3-associated polypeptide p130)

sequence:

opentargets:
nuclear speck [GO:0016607]; Sin3-type complex [GO:0070822]; negative regulation of transcription by RNA polymerase II [GO:0000122]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q9H0E3-1; Sequence=Displayed; Name=2; IsoId=Q9H0E3-2; Sequence=VSP_024355, VSP_024356; Name=3; IsoId=Q9H0E3-3; Sequence=VSP_024356; Note=No experimental confirmation available.; 


uniprotID: Q9Y5B9
geneSymbol: SUPT16H
pdb: 4Z2M;4Z2N;5E5B;5UMT;5UMU;5XM2;
length: 1047
go: ENSG00000092201;
reactome:
R-HSA-112382;R-HSA-167152;R-HSA-167200;R-HSA-167238;R-HSA-167243;R-HSA-167246;R-HSA-167287;R-HSA-167290;R-HSA-674695;R-HSA-6796648;R-HSA-6804756;R-HSA-75955;

name:
FACT complex subunit SPT16 (Chromatin-specific transcription elongation factor 140 kDa subunit) (FACT 140 kDa subunit) (FACTp140) (Facilitates chromatin transcription complex subunit SPT16) (hSPT16)

sequence:

opentargets:
chromosome [GO:0005694]; FACT complex [GO:0035101]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; histone binding [GO:0042393]; nucleosome binding [GO:0031491]; RNA binding [GO:0003723]; DNA repair [GO:0006281]; DNA replication [GO:0006260]; DNA replication-independent nucleosome organization [GO:0034724]; nucleosome disassembly [GO:0006337]; positive regulation of DNA-templated transcription, elongation [GO:0032786]; positive regulation of transcription elongation from RNA polymerase II promoter [GO:0032968]; regulation of signal transduction by p53 class mediator [GO:1901796]; transcription by RNA polymerase II [GO:0006366]; transcription elongation from RNA polymerase II promoter [GO:0006368]

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:10421373}. Chromosome {ECO:0000269|PubMed:10421373}. Note=Colocalizes with RNA polymerase II on chromatin. Recruited to actively transcribed loci.


uniprotID: Q496A3
geneSymbol: SPATS1
name: Spermatogenesis-associated serine-rich protein 1
length: 300
snps: rs10948132
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q496A3-1; Sequence=Displayed; Name=2; IsoId=Q496A3-2; Sequence=VSP_028787; Note=No experimental confirmation available. May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.; 


uniprotID: Q9BWV2
geneSymbol: SPATA9
name: Spermatogenesis-associated protein 9 (Testis development protein NYD-SP16)
length: 254
go: ENSG00000145757;
snps: rs34297786
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Single-pass membrane protein {ECO:0000305}.
sequence:

opentargets:
integral component of membrane [GO:0016021]; cell differentiation [GO:0030154]; multicellular organism development [GO:0007275]; spermatogenesis [GO:0007283]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q9BWV2-1; Sequence=Displayed; Name=2; IsoId=Q9BWV2-2; Sequence=VSP_023282; Note=No experimental confirmation available.; Name=3; IsoId=Q9BWV2-3; Sequence=VSP_023283, VSP_023284; Note=No experimental confirmation available. May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.; 


uniprotID: Q9H061
geneSymbol: TMEM126A
name: Transmembrane protein 126A
length: 195
go: ENSG00000171202;
snps: rs11556797
sequence:
MENHKSNNKENITIVDISRKINQLPEAERNLLENGSVYVGLNAALCGLIANSLFRRILNVTKARIAAGLPMAGIPFLTTDLTYRCFVSFPLNTGDLDCETCTITRSGLTGLVIGGLYPVFLAIPVNGGLAARYQSALLPHKGNILSYWIRTSKPVFRKMLFPILLQTMFSAYLGSEQYKLLIKALQLSEPGKEIH

opentargets:
integral component of membrane [GO:0016021]; mitochondrial inner membrane [GO:0005743]; mitochondrion [GO:0005739]; optic nerve development [GO:0021554]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9H061-1; Sequence=Displayed; Name=2; IsoId=Q9H061-2; Sequence=VSP_046927; Note=Gene prediction based on EST data.; 

location:
SUBCELLULAR LOCATION: Mitochondrion inner membrane {ECO:0000269|PubMed:19327736, ECO:0000269|PubMed:23500070}; Multi-pass membrane protein {ECO:0000269|PubMed:19327736, ECO:0000269|PubMed:23500070}.


uniprotID: Q495Y8
geneSymbol: SPDYE2
name: Speedy protein E2
length: 402
go: ENSG00000205238;
opentargets: protein kinase binding [GO:0019901]
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q495Y8-1; Sequence=Displayed; Note=No experimental confirmation available.; Name=2; IsoId=Q495Y8-2; Sequence=VSP_039851; Note=No experimental confirmation available.; 


uniprotID: Q96P15
geneSymbol: SERPINB11
name: Serpin B11
length: 392
snps: rs1395268 rs17071550 rs1506419 rs1395266 rs1395267 rs34811964
location: SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250}.
sequence:

opentargets:
cytoplasm [GO:0005737]; extracellular space [GO:0005615]; serine-type endopeptidase inhibitor activity [GO:0004867]; negative regulation of endopeptidase activity [GO:0010951]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; Synonyms=SERPINB11a; IsoId=Q96P15-1; Sequence=Displayed; Name=2; Synonyms=SERPINB11e; IsoId=Q96P15-2; Sequence=VSP_040671; Name=3; Synonyms=SERPINB11g; IsoId=Q96P15-3; Sequence=VSP_040670; 


uniprotID: P61009
geneSymbol: SPCS3
reactome: R-HSA-1799339;R-HSA-381771;R-HSA-400511;R-HSA-422085;
length: 180
go: ENSG00000129128;
name:
Signal peptidase complex subunit 3 (EC 3.4.-.-) (Microsomal signal peptidase 22/23 kDa subunit) (SPC22/23) (SPase 22/23 kDa subunit)

sequence:
MNTVLSRANSLFAFSLSVMAALTFGCFITTAFKDRSVPVRLHVSRIMLKNVEDFTGPRERSDLGFITFDITADLENIFDWNVKQLFLYLSAEYSTKNNALNQVVLWDKIVLRGDNPKLLLKDMKTKYFFFDDGNGLKGNRNVTLTLSWNVVPNAGILPLVTGSGHVSVPFPDTYEITKSY

opentargets:
endoplasmic reticulum [GO:0005783]; endoplasmic reticulum membrane [GO:0005789]; integral component of membrane [GO:0016021]; organelle membrane [GO:0031090]; signal peptidase complex [GO:0005787]; peptidase activity [GO:0008233]; protein targeting to ER [GO:0045047]; proteolysis [GO:0006508]; signal peptide processing [GO:0006465]

location:
SUBCELLULAR LOCATION: Microsome membrane {ECO:0000250|UniProtKB:P61008}; Single-pass type II membrane protein {ECO:0000305}. Endoplasmic reticulum membrane {ECO:0000250|UniProtKB:Q12133}; Single-pass type II membrane protein {ECO:0000305}.


uniprotID: P50453
geneSymbol: SERPINB9
name: Serpin B9 (Cytoplasmic antiproteinase 3) (CAP-3) (CAP3) (Peptidase inhibitor 9) (PI-9)
length: 376
go: ENSG00000170542;
location: SUBCELLULAR LOCATION: Cytoplasm.
sequence:

opentargets:
collagen-containing extracellular matrix [GO:0062023]; cytoplasm [GO:0005737]; cytosol [GO:0005829]; extracellular exosome [GO:0070062]; extracellular space [GO:0005615]; Golgi apparatus [GO:0005794]; intracellular [GO:0005622]; membrane [GO:0016020]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; cysteine-type endopeptidase inhibitor activity involved in apoptotic process [GO:0043027]; protease binding [GO:0002020]; serine-type endopeptidase inhibitor activity [GO:0004867]; cellular response to estrogen stimulus [GO:0071391]; immune response [GO:0006955]; mast cell mediated immunity [GO:0002448]; negative regulation by symbiont of host apoptotic process [GO:0033668]; negative regulation of apoptotic process [GO:0043066]; negative regulation of endopeptidase activity [GO:0010951]; positive regulation of gene expression [GO:0010628]; protection from natural killer cell mediated cytotoxicity [GO:0042270]; response to bacterium [GO:0009617]


uniprotID: Q9NWH7
geneSymbol: SPATA6
name: Spermatogenesis-associated protein 6
length: 488
go: ENSG00000132122;
snps: rs1338314 rs1056042 rs1056042 rs1056042
sequence:

opentargets:
extracellular region [GO:0005576]; sperm connecting piece [GO:0097224]; myosin light chain binding [GO:0032027]; cell differentiation [GO:0030154]; motile cilium assembly [GO:0044458]; multicellular organism development [GO:0007275]; spermatogenesis [GO:0007283]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9NWH7-1; Sequence=Displayed; Name=2; IsoId=Q9NWH7-2; Sequence=VSP_023277; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Secreted {ECO:0000250|UniProtKB:Q3U6K5}. Cell projection, cilium, flagellum {ECO:0000250|UniProtKB:Q3U6K5}. Note=Specifically localizes to the segmented columns and the capitulum of the sperm connecting piece. {ECO:0000250|UniProtKB:Q3U6K5}.


uniprotID: Q14159
geneSymbol: SPIDR
reactome: R-HSA-5693568;
name: DNA repair-scaffolding protein (Scaffolding protein involved in DNA repair)
length: 915
go: ENSG00000164808;
sequence:

opentargets:
nuclear chromosome [GO:0000228]; nucleoplasm [GO:0005654]; cellular response to camptothecin [GO:0072757]; cellular response to DNA damage stimulus [GO:0006974]; cellular response to hydroxyurea [GO:0072711]; cellular response to ionizing radiation [GO:0071479]; double-strand break repair via homologous recombination [GO:0000724]; positive regulation of double-strand break repair [GO:2000781]; positive regulation of protein complex assembly [GO:0031334]; regulation of double-strand break repair via homologous recombination [GO:0010569]; regulation of establishment of protein localization to chromosome [GO:0070202]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q14159-1; Sequence=Displayed; Name=2; IsoId=Q14159-2; Sequence=VSP_056652; Note=No experimental confirmation available.; Name=3; IsoId=Q14159-3; Sequence=VSP_056653, VSP_056654; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:23509288}. Note=Together with BLM, is redistributed in discrete nuclear DNA damage-induced foci following hydroxyurea (HU) or camptothecin (CPT) treatment.


uniprotID: Q9NY87
geneSymbol: SPANXC
sequence: MDKQSSAGGVKRSVPCDSNEANEMMPETSSGYSDPQPAPKKLKTSESSTILVVRYRRNVKRTSPEELVNDHARENRINPLQMEEEEFMEIMVEIPAK
length: 97
go: ENSG00000198573;
opentargets: cytoplasm [GO:0005737]; nucleus [GO:0005634]
name:
Sperm protein associated with the nucleus on the X chromosome C (Cancer/testis antigen 11.3) (CT11.3) (Cancer/testis-associated protein CTp11) (Nuclear-associated protein SPAN-Xc) (SPANX-C) (SPANX family member C)

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:10626816}. Nucleus {ECO:0000269|PubMed:10626816}. Note=Associated with nuclear craters.


uniprotID: O75528
geneSymbol: TADA3
reactome: R-HSA-3214847;R-HSA-5689880;
length: 432
go: ENSG00000171148;
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:11564863, ECO:0000269|PubMed:9674425}.
name:
Transcriptional adapter 3 (ADA3 homolog) (hADA3) (STAF54) (Transcriptional adapter 3-like) (ADA3-like protein)

sequence:

opentargets:
Ada2/Gcn5/Ada3 transcription activator complex [GO:0005671]; intracellular [GO:0005622]; mitotic spindle [GO:0072686]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; SAGA complex [GO:0000124]; STAGA complex [GO:0030914]; transcription factor TFTC complex [GO:0033276]; DNA-binding transcription factor activity [GO:0003700]; nuclear receptor binding [GO:0016922]; nuclear receptor transcription coactivator activity [GO:0030374]; protein domain specific binding [GO:0019904]; thiol-dependent ubiquitinyl hydrolase activity [GO:0036459]; transcription coactivator activity [GO:0003713]; histone H3 acetylation [GO:0043966]; histone H4 acetylation [GO:0043967]; intracellular estrogen receptor signaling pathway [GO:0030520]; mitotic cell cycle [GO:0000278]; positive regulation of gene expression [GO:0010628]; positive regulation of transcription, DNA-templated [GO:0045893]; protein deubiquitination [GO:0016579]; regulation of histone deacetylation [GO:0031063]; regulation of protein phosphorylation [GO:0001932]; regulation of protein stability [GO:0031647]; regulation of transcription by RNA polymerase II [GO:0006357]; regulation of tubulin deacetylation [GO:0090043]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=O75528-1; Sequence=Displayed; Name=2; IsoId=O75528-2; Sequence=VSP_009739; 


uniprotID: O43791
geneSymbol: SPOP
reactome: R-HSA-5632684;
pdb: 2CR2;3HQH;3HQI;3HQL;3HQM;3HSV;3HTM;3HU6;3IVB;3IVQ;3IVV;4EOZ;4HS2;4J8Z;4O1V;
name: Speckle-type POZ protein (HIB homolog 1) (Roadkill homolog 1)
length: 374
go: ENSG00000121067;
location: SUBCELLULAR LOCATION: Nucleus. Nucleus speckle.
sequence:

opentargets:
Cul3-RING ubiquitin ligase complex [GO:0031463]; cytoplasm [GO:0005737]; nuclear speck [GO:0016607]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; ubiquitin protein ligase binding [GO:0031625]; proteasome-mediated ubiquitin-dependent protein catabolic process [GO:0043161]; protein ubiquitination [GO:0016567]; regulation of proteolysis [GO:0030162]; ubiquitin-dependent protein catabolic process [GO:0006511]


uniprotID: Q9NZQ3
geneSymbol: NCKIPSD
reactome: R-HSA-2029482;R-HSA-5663213;
length: 722
go: ENSG00000213672;
snps: rs6785620 rs17855516
name:
NCK-interacting protein with SH3 domain (54 kDa VacA-interacting protein) (54 kDa vimentin-interacting protein) (VIP54) (90 kDa SH3 protein interacting with Nck) (AF3p21) (Dia-interacting protein 1) (DIP-1) (Diaphanous protein-interacting protein) (SH3 adapter protein SPIN90) (WASP-interacting SH3-domain protein) (WISH) (Wiskott-Aldrich syndrome protein-interacting protein)

sequence:

opentargets:
cytosol [GO:0005829]; intermediate filament [GO:0005882]; nucleus [GO:0005634]; cytoskeletal protein binding [GO:0008092]; SH3 domain binding [GO:0017124]; cytoskeleton organization [GO:0007010]; Fc-gamma receptor signaling pathway involved in phagocytosis [GO:0038096]; NLS-bearing protein import into nucleus [GO:0006607]; positive regulation of neuron projection development [GO:0010976]; signal transduction [GO:0007165]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=5;  Name=1; IsoId=Q9NZQ3-1; Sequence=Displayed; Name=2; IsoId=Q9NZQ3-2; Sequence=VSP_003971; Name=3; IsoId=Q9NZQ3-3; Sequence=VSP_039422; Note=No experimental confirmation available.; Name=4; Synonyms=WISH-B; IsoId=Q9NZQ3-4; Sequence=VSP_039422, VSP_039425, VSP_039426; Name=5; IsoId=Q9NZQ3-5; Sequence=VSP_039423, VSP_039424; Note=Found in a brain affected by Alzheimer disease. May be due to intron retention. No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Nucleus. Note=Colocalizes with DRF1 at membrane ruffles, and with Nck at Z-disks in mature cardiac myocytes.


uniprotID: Q9NYA1
geneSymbol: SPHK1
reactome: R-HSA-1660661;R-HSA-390471;R-HSA-5218921;
pdb: 3VZB;3VZC;3VZD;4L02;4V24;
name: Sphingosine kinase 1 (SK 1) (SPK 1) (EC 2.7.1.91)
length: 384
go: ENSG00000176170;
drug: DB08868;
snps: rs346803
sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; nucleus [GO:0005634]; plasma membrane [GO:0005886]; ATP binding [GO:0005524]; calmodulin binding [GO:0005516]; D-erythro-sphingosine kinase activity [GO:0017050]; DNA binding [GO:0003677]; magnesium ion binding [GO:0000287]; NAD+ kinase activity [GO:0003951]; protein phosphatase 2A binding [GO:0051721]; sphinganine kinase activity [GO:0008481]; sphingosine-1-phosphate receptor activity [GO:0038036]; blood vessel development [GO:0001568]; brain development [GO:0007420]; calcium-mediated signaling [GO:0019722]; inflammatory response [GO:0006954]; intracellular signal transduction [GO:0035556]; negative regulation of apoptotic process [GO:0043066]; positive regulation of angiogenesis [GO:0045766]; positive regulation of cell growth [GO:0030307]; positive regulation of cell migration [GO:0030335]; positive regulation of fibroblast proliferation [GO:0048146]; positive regulation of mitotic cell cycle [GO:0045931]; positive regulation of NF-kappaB transcription factor activity [GO:0051092]; positive regulation of NIK/NF-kappaB signaling [GO:1901224]; positive regulation of peptidyl-threonine phosphorylation [GO:0010800]; positive regulation of protein ubiquitination [GO:0031398]; positive regulation of smooth muscle contraction [GO:0045987]; protein folding [GO:0006457]; regulation of interleukin-1 beta production [GO:0032651]; regulation of tumor necrosis factor-mediated signaling pathway [GO:0010803]; signal transduction [GO:0007165]; sphingoid catabolic process [GO:0046521]; sphingolipid biosynthetic process [GO:0030148]; sphingosine biosynthetic process [GO:0046512]; sphingosine metabolic process [GO:0006670]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q9NYA1-1; Sequence=Displayed; Name=2; IsoId=Q9NYA1-2; Sequence=VSP_035453; Name=3; IsoId=Q9NYA1-3; Sequence=VSP_047078; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:14575709, ECO:0000269|PubMed:19854831}. Nucleus {ECO:0000269|PubMed:14575709, ECO:0000269|PubMed:19854831}. Cell membrane {ECO:0000269|PubMed:19854831}. Note=Translocated from the cytoplasm to the plasma membrane in a CIB1-dependent manner. {ECO:0000269|PubMed:19854831}.


uniprotID: Q9Y657
geneSymbol: SPIN1
pdb: 2NS2;4H75;4MZF;4MZG;4MZH;5JSG;5JSJ;5Y5W;
name: Spindlin-1 (Ovarian cancer-related protein) (Spindlin1)
length: 262
go: ENSG00000106723;
snps: rs34794905
sequence:

opentargets:
cytosol [GO:0005829]; nuclear membrane [GO:0031965]; nucleolus [GO:0005730]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; spindle [GO:0005819]; methylated histone binding [GO:0035064]; chromatin organization [GO:0006325]; gamete generation [GO:0007276]; meiotic cell cycle [GO:0051321]; multicellular organism development [GO:0007275]; positive regulation of transcription, DNA-templated [GO:0045893]; positive regulation of Wnt signaling pathway [GO:0030177]; rRNA transcription [GO:0009303]; Wnt signaling pathway [GO:0016055]

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:16098913, ECO:0000269|PubMed:29061846}. Nucleus, nucleolus {ECO:0000269|PubMed:21960006}.


uniprotID: P52788
geneSymbol: SMS
reactome: R-HSA-351202;
pdb: 3C6K;3C6M;
name: Spermine synthase (SPMSY) (EC 2.5.1.22) (Spermidine aminopropyltransferase)
length: 366
go: ENSG00000102172;
drug: DB00127;
snps: rs121434610 rs397515549 rs397515550 rs267607076 rs397515553
sequence:

opentargets:
cytosol [GO:0005829]; extracellular exosome [GO:0070062]; spermine synthase activity [GO:0016768]; methionine metabolic process [GO:0006555]; polyamine metabolic process [GO:0006595]; spermine biosynthetic process [GO:0006597]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P52788-1; Sequence=Displayed; Name=2; IsoId=P52788-2; Sequence=VSP_034406; Note=Gene prediction confirmed by EST data.; 


uniprotID: Q9H714
geneSymbol: RUBCNL
name: Protein RUBCNL-like
length: 662
go: ENSG00000102445;
snps: rs1408184
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=6;  Name=1; IsoId=Q9H714-5; Sequence=Displayed; Note=No experimental confirmation available.; Name=5; IsoId=Q9H714-4; Sequence=VSP_014713; Note=No experimental confirmation available.; Name=2; IsoId=Q9H714-3; Sequence=VSP_014708; Note=No experimental confirmation available.; Name=3; IsoId=Q9H714-1; Sequence=VSP_014711, VSP_014712; Note=No experimental confirmation available. May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.; Name=4; IsoId=Q9H714-2; Sequence=VSP_014709, VSP_014710; Note=No experimental confirmation available. May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.; Name=6; IsoId=Q9H714-6; Sequence=VSP_055260; Note=No experimental confirmation available.; 


uniprotID: Q9BVN2
geneSymbol: RUSC1
pdb: 4GIW;
length: 902
go: ENSG00000160753;
snps: rs12061020 rs35826120
name:
RUN and SH3 domain-containing protein 1 (New molecule containing SH3 at the carboxy-terminus) (Nesca)

sequence:

opentargets:
cell junction [GO:0030054]; cytoplasmic vesicle [GO:0031410]; cytosol [GO:0005829]; early endosome [GO:0005769]; Golgi apparatus [GO:0005794]; microtubule [GO:0005874]; microtubule cytoskeleton [GO:0015630]; nucleus [GO:0005634]; postsynaptic density [GO:0014069]; postsynaptic membrane [GO:0045211]; actin binding [GO:0003779]; SH3/SH2 adaptor activity [GO:0005070]; protein polyubiquitination [GO:0000209]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=Q9BVN2-1; Sequence=Displayed; Name=2; IsoId=Q9BVN2-2; Sequence=VSP_010855; Name=3; IsoId=Q9BVN2-3; Sequence=VSP_054052; Name=4; IsoId=Q9BVN2-4; Sequence=VSP_054053; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasm. Nucleus. Cytoplasm, cytoskeleton {ECO:0000250}. Cytoplasmic vesicle {ECO:0000250}. Early endosome {ECO:0000250}. Cell junction, synapse, postsynaptic cell membrane, postsynaptic density {ECO:0000250}. Golgi apparatus {ECO:0000250}. Note=Translocated to the nuclear envelope upon stimulation with NGF. Associated with membranes and microtubules (By similarity). {ECO:0000250}.


uniprotID: Q8N2Y8
geneSymbol: RUSC2
name: Iporin (Interacting protein of Rab1) (RUN and SH3 domain-containing protein 2)
length: 1516
go: ENSG00000198853;
snps: rs1535422 rs3750427
sequence:

opentargets:
cytoplasmic vesicle [GO:0031410]; cytosol [GO:0005829]; extracellular exosome [GO:0070062]; Rab GTPase binding [GO:0017137]

location:
SUBCELLULAR LOCATION: Cytoplasm, cytosol {ECO:0000269|PubMed:15796781}. Note=Cytosolic punctate distribution. Also observed in the perinuclear region.


uniprotID: Q8IZ73
geneSymbol: RPUSD2
name: RNA pseudouridylate synthase domain-containing protein 2
length: 545
go: ENSG00000166133;
sequence:

opentargets:
pseudouridine synthase activity [GO:0009982]; RNA binding [GO:0003723]; enzyme-directed rRNA pseudouridine synthesis [GO:0000455]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q8IZ73-1; Sequence=Displayed; Name=2; IsoId=Q8IZ73-2; Sequence=VSP_055372; Note=No experimental confirmation available.; 


uniprotID: Q9Y265
geneSymbol: RUVBL1
reactome: R-HSA-171319;R-HSA-201722;R-HSA-3214847;R-HSA-5689603;R-HSA-5689880;R-HSA-5696394;R-HSA-606279;
pdb: 2C9O;2XSZ;5OAF;6ETX;6FO1;
length: 456
go: ENSG00000175792;
name:
RuvB-like 1 (EC 3.6.4.12) (49 kDa TATA box-binding protein-interacting protein) (49 kDa TBP-interacting protein) (54 kDa erythrocyte cytosolic protein) (ECP-54) (INO80 complex subunit H) (Nuclear matrix protein 238) (NMP 238) (Pontin 52) (TIP49a) (TIP60-associated protein 54-alpha) (TAP54-alpha)

sequence:

opentargets:
cytosol [GO:0005829]; extracellular exosome [GO:0070062]; Ino80 complex [GO:0031011]; membrane [GO:0016020]; microtubule organizing center [GO:0005815]; MLL1 complex [GO:0071339]; NuA4 histone acetyltransferase complex [GO:0035267]; nuclear matrix [GO:0016363]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; R2TP complex [GO:0097255]; ribonucleoprotein complex [GO:1990904]; Swr1 complex [GO:0000812]; ADP binding [GO:0043531]; ATP binding [GO:0005524]; ATP-dependent 5'-3' DNA helicase activity [GO:0043141]; ATP-dependent DNA helicase activity [GO:0004003]; ATPase activity [GO:0016887]; ATPase binding [GO:0051117]; cadherin binding [GO:0045296]; DNA helicase activity [GO:0003678]; TBP-class protein binding [GO:0017025]; TFIID-class transcription factor complex binding [GO:0001094]; transcription coactivator activity [GO:0003713]; beta-catenin-TCF complex assembly [GO:1904837]; box C/D snoRNP assembly [GO:0000492]; cell cycle [GO:0007049]; cell division [GO:0051301]; CENP-A containing nucleosome assembly [GO:0034080]; chromatin remodeling [GO:0006338]; DNA recombination [GO:0006310]; DNA repair [GO:0006281]; histone acetylation [GO:0016573]; histone H2A acetylation [GO:0043968]; histone H4 acetylation [GO:0043967]; positive regulation of canonical Wnt signaling pathway [GO:0090263]; positive regulation of telomerase RNA localization to Cajal body [GO:1904874]; protein deubiquitination [GO:0016579]; regulation of growth [GO:0040008]; regulation of transcription by RNA polymerase II [GO:0006357]; spermatogenesis [GO:0007283]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9Y265-1; Sequence=Displayed; Name=2; IsoId=Q9Y265-2; Sequence=VSP_021387, VSP_021388; 

location:
SUBCELLULAR LOCATION: Nucleus matrix. Nucleus, nucleoplasm. Cytoplasm. Membrane. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome. Note=Mainly localized in the nucleus, associated with nuclear matrix or in the nuclear cytosol, although it is also present in the cytoplasm and associated with the cell membranes. In prophase and prometaphase it is located at the centrosome and the branching microtubule spindles. After mitotic nuclear membrane disintigration it accumulates at the centrosome and sites of tubulin polymerization. As cells pass through metaphase and into telophase it is located close to the centrosome at the early phase of tubulin polymerization. In anaphase it accumulates at the zone of tubule interdigitation. In telophase it is found at polar tubule overlap, and it reappears at the site of chromosomal decondensation in the daughter cells.


uniprotID: P62304
geneSymbol: SNRPE
reactome: R-HSA-109688;R-HSA-111367;R-HSA-191859;R-HSA-72163;R-HSA-72165;R-HSA-77588;
name: Small nuclear ribonucleoprotein E (snRNP-E) (Sm protein E) (Sm-E) (SmE)
sequence: MAYRGQGQKVQKVMVQPINLIFRYLQNRSRIQVWLYEQVNMRIEGCIIGFDEYMNLVLDDAEEIHSKTKSRKQLGRIMLKGDNITLLQSVSN
length: 92
go: ENSG00000182004;
snps: rs587776925
pdb:
3CW1;3JCR;3PGW;4F7U;4PJO;4V98;4WZJ;5MQF;5O9Z;5XJC;5XJL;5XJQ;5XJR;5XJS;5XJT;5XJU;5YZG;5Z56;5Z57;5Z58;

opentargets:
catalytic step 2 spliceosome [GO:0071013]; cytosol [GO:0005829]; methylosome [GO:0034709]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; pICln-Sm protein complex [GO:0034715]; small nuclear ribonucleoprotein complex [GO:0030532]; SMN-Sm protein complex [GO:0034719]; spliceosomal complex [GO:0005681]; telomerase holoenzyme complex [GO:0005697]; U1 snRNP [GO:0005685]; U12-type spliceosomal complex [GO:0005689]; U2 snRNP [GO:0005686]; U2-type catalytic step 2 spliceosome [GO:0071007]; U2-type precatalytic spliceosome [GO:0071005]; U4 snRNP [GO:0005687]; U4/U6 x U5 tri-snRNP complex [GO:0046540]; U5 snRNP [GO:0005682]; U7 snRNP [GO:0005683]; RNA binding [GO:0003723]; hair cycle [GO:0042633]; histone mRNA metabolic process [GO:0008334]; import into nucleus [GO:0051170]; mRNA splicing, via spliceosome [GO:0000398]; spliceosomal complex assembly [GO:0000245]; spliceosomal snRNP assembly [GO:0000387]; termination of RNA polymerase II transcription [GO:0006369]

location:
SUBCELLULAR LOCATION: Cytoplasm, cytosol {ECO:0000269|PubMed:18984161}. Nucleus {ECO:0000269|PubMed:11574479, ECO:0000269|PubMed:11991638, ECO:0000269|PubMed:23246290, ECO:0000269|PubMed:26912367, ECO:0000269|PubMed:28076346, ECO:0000269|PubMed:28502770, ECO:0000269|PubMed:28781166}. Note=SMN-mediated assembly into core snRNPs occurs in the cytosol before SMN-mediated transport to the nucleus to be included in spliceosomes. {ECO:0000305}.


uniprotID: P62306
geneSymbol: SNRPF
reactome: R-HSA-109688;R-HSA-111367;R-HSA-191859;R-HSA-72163;R-HSA-72165;R-HSA-77588;
name: Small nuclear ribonucleoprotein F (snRNP-F) (Sm protein F) (Sm-F) (SmF)
sequence: MSLPLNPKPFLNGLTGKPVMVKLKWGMEYKGYLVSVDGYMNMQLANTEEYIDGALSGHLGEVLIRCNNVLYIRGVEEEEEDGEMRE
length: 86
go: ENSG00000139343;
pdb:
3CW1;3JCR;3PGW;4F7U;4PJO;4V98;4WZJ;5MQF;5O9Z;5XJC;5XJL;5XJQ;5XJR;5XJS;5XJT;5XJU;5YZG;5Z56;5Z57;5Z58;

opentargets:
catalytic step 2 spliceosome [GO:0071013]; cytosol [GO:0005829]; methylosome [GO:0034709]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; pICln-Sm protein complex [GO:0034715]; small nuclear ribonucleoprotein complex [GO:0030532]; small nucleolar ribonucleoprotein complex [GO:0005732]; SMN-Sm protein complex [GO:0034719]; spliceosomal complex [GO:0005681]; U1 snRNP [GO:0005685]; U12-type spliceosomal complex [GO:0005689]; U2-type catalytic step 2 spliceosome [GO:0071007]; U2-type precatalytic spliceosome [GO:0071005]; U4 snRNP [GO:0005687]; U4/U6 x U5 tri-snRNP complex [GO:0046540]; U7 snRNP [GO:0005683]; RNA binding [GO:0003723]; histone mRNA metabolic process [GO:0008334]; import into nucleus [GO:0051170]; mRNA splicing, via spliceosome [GO:0000398]; RNA splicing [GO:0008380]; spliceosomal snRNP assembly [GO:0000387]; termination of RNA polymerase II transcription [GO:0006369]

location:
SUBCELLULAR LOCATION: Cytoplasm, cytosol {ECO:0000269|PubMed:18984161}. Nucleus {ECO:0000269|PubMed:11574479, ECO:0000269|PubMed:11991638, ECO:0000269|PubMed:26912367, ECO:0000269|PubMed:28076346, ECO:0000269|PubMed:28502770, ECO:0000269|PubMed:28781166}. Note=SMN-mediated assembly into core snRNPs occurs in the cytosol before SMN-mediated transport to the nucleus to be included in spliceosomes. {ECO:0000305}.


uniprotID: P06702
geneSymbol: S100A9
reactome: R-HSA-5686938;R-HSA-6798695;R-HSA-6799990;
pdb: 1IRJ;1XK4;4GGF;4XJK;5I8N;5W1F;6DS2;
length: 114
go: ENSG00000163220;
name:
Protein S100-A9 (Calgranulin-B) (Calprotectin L1H subunit) (Leukocyte L1 complex heavy chain) (Migration inhibitory factor-related protein 14) (MRP-14) (p14) (S100 calcium-binding protein A9)

sequence:
MTCKMSQLERNIETIINTFHQYSVKLGHPDTLNQGEFKELVRKDLQNFLKKENKNEKVIEHIMEDLDTNADKQLSFEEFIMLMARLTWASHEKMHEGDEGPGHHHKPGLGEGTP

opentargets:
cell junction [GO:0030054]; collagen-containing extracellular matrix [GO:0062023]; cytoplasm [GO:0005737]; cytoskeleton [GO:0005856]; cytosol [GO:0005829]; extracellular exosome [GO:0070062]; extracellular region [GO:0005576]; extracellular space [GO:0005615]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; plasma membrane [GO:0005886]; secretory granule lumen [GO:0034774]; antioxidant activity [GO:0016209]; arachidonic acid binding [GO:0050544]; calcium ion binding [GO:0005509]; microtubule binding [GO:0008017]; RAGE receptor binding [GO:0050786]; Toll-like receptor 4 binding [GO:0035662]; zinc ion binding [GO:0008270]; activation of cysteine-type endopeptidase activity involved in apoptotic process [GO:0006919]; antimicrobial humoral immune response mediated by antimicrobial peptide [GO:0061844]; antimicrobial humoral response [GO:0019730]; apoptotic process [GO:0006915]; autophagy [GO:0006914]; cell-cell signaling [GO:0007267]; chemokine production [GO:0032602]; cytokine production [GO:0001816]; defense response to bacterium [GO:0042742]; defense response to fungus [GO:0050832]; inflammatory response [GO:0006954]; innate immune response [GO:0045087]; leukocyte migration involved in inflammatory response [GO:0002523]; modification of morphology or physiology of other organism [GO:0035821]; neutrophil aggregation [GO:0070488]; neutrophil chemotaxis [GO:0030593]; neutrophil degranulation [GO:0043312]; peptidyl-cysteine S-trans-nitrosylation [GO:0035606]; positive regulation of cell growth [GO:0030307]; positive regulation of inflammatory response [GO:0050729]; positive regulation of intrinsic apoptotic signaling pathway [GO:2001244]; positive regulation of neuron projection development [GO:0010976]; positive regulation of NF-kappaB transcription factor activity [GO:0051092]; regulation of cytoskeleton organization [GO:0051493]; sequestering of zinc ion [GO:0032119]; toll-like receptor signaling pathway [GO:0002224]

location:
SUBCELLULAR LOCATION: Secreted. Cytoplasm. Cytoplasm, cytoskeleton. Cell membrane; Peripheral membrane protein. Note=Predominantly localized in the cytoplasm. Upon elevation of the intracellular calcium level, translocated from the cytoplasm to the cytoskeleton and the cell membrane. Upon neutrophil activation or endothelial adhesion of monocytes, is secreted via a microtubule-mediated, alternative pathway.


uniprotID: Q9UP95
geneSymbol: SLC12A4
reactome: R-HSA-426117;
length: 1085
go: ENSG00000124067;
drug: DB00887;DB00761;
location: SUBCELLULAR LOCATION: Membrane; Multi-pass membrane protein.
name:
Solute carrier family 12 member 4 (Electroneutral potassium-chloride cotransporter 1) (Erythroid K-Cl cotransporter 1) (hKCC1)

sequence:

opentargets:
integral component of plasma membrane [GO:0005887]; lysosomal membrane [GO:0005765]; membrane [GO:0016020]; plasma membrane [GO:0005886]; potassium:chloride symporter activity [GO:0015379]; protein kinase binding [GO:0019901]; cell volume homeostasis [GO:0006884]; chemical synaptic transmission [GO:0007268]; chloride ion homeostasis [GO:0055064]; chloride transmembrane transport [GO:1902476]; ion transport [GO:0006811]; potassium ion homeostasis [GO:0055075]; potassium ion import [GO:0010107]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=7;  Comment=Experimental confirmation may be lacking for some isoforms.; Name=1; IsoId=Q9UP95-1; Sequence=Displayed; Name=2; IsoId=Q9UP95-2; Sequence=VSP_006113, VSP_006114; Name=3; IsoId=Q9UP95-3; Sequence=VSP_006112; Name=4; IsoId=Q9UP95-4; Sequence=VSP_006108, VSP_006109, VSP_006110, VSP_006111; Name=5; IsoId=Q9UP95-5; Sequence=VSP_044596; Note=No experimental confirmation available.; Name=6; IsoId=Q9UP95-6; Sequence=VSP_046146; Note=No experimental confirmation available. {ECO:0000305}; Name=7; IsoId=Q9UP95-7; Sequence=VSP_046369; Note=No experimental confirmation available.; 


uniprotID: P06703
geneSymbol: S100A6
pdb: 1K8U;1K96;1K9K;1K9P;2M1K;4YBH;
sequence: MACPLDQAIGLLVAIFHKYSGREGDKHTLSKKELKELIQKELTIGSKLQDAEIARLMEDLDRNKDQEVNFQEYVTFLGALALIYNEALKG
length: 90
go: ENSG00000197956;
snps: rs11974 rs1802581 rs1802582 rs2228293
name:
Protein S100-A6 (Calcyclin) (Growth factor-inducible protein 2A9) (MLN 4) (Prolactin receptor-associated protein) (PRA) (S100 calcium-binding protein A6)

opentargets:
collagen-containing extracellular matrix [GO:0062023]; cytoplasm [GO:0005737]; cytosol [GO:0005829]; extracellular exosome [GO:0070062]; extracellular region [GO:0005576]; extrinsic component of cytoplasmic side of plasma membrane [GO:0031234]; nuclear envelope [GO:0005635]; nucleus [GO:0005634]; perinuclear region of cytoplasm [GO:0048471]; plasma membrane [GO:0005886]; ruffle [GO:0001726]; calcium ion binding [GO:0005509]; calcium-dependent protein binding [GO:0048306]; ion transmembrane transporter activity [GO:0015075]; protein homodimerization activity [GO:0042803]; S100 protein binding [GO:0044548]; tropomyosin binding [GO:0005523]; zinc ion binding [GO:0008270]; axonogenesis [GO:0007409]; positive regulation of fibroblast proliferation [GO:0048146]; signal transduction [GO:0007165]

location:
SUBCELLULAR LOCATION: Nucleus envelope. Cytoplasm. Cell membrane; Peripheral membrane protein; Cytoplasmic side.


uniprotID: Q16348
geneSymbol: SLC15A2
reactome: R-HSA-427975;
pdb: 6EZI;
length: 729
go: ENSG00000163406;
snps: rs1920305 rs1143667 rs2257212 rs1143671 rs1143672 rs1143668 rs1920314
name:
Solute carrier family 15 member 2 (Kidney H(+)/peptide cotransporter) (Oligopeptide transporter, kidney isoform) (Peptide transporter 2)

sequence:

opentargets:
extracellular exosome [GO:0070062]; integral component of membrane [GO:0016021]; integral component of plasma membrane [GO:0005887]; plasma membrane [GO:0005886]; dipeptide transmembrane transporter activity [GO:0071916]; oligopeptide transmembrane transporter activity [GO:0035673]; peptide transmembrane transporter activity [GO:1904680]; peptide:proton symporter activity [GO:0015333]; drug transport [GO:0015893]; ion transport [GO:0006811]; protein transport [GO:0015031]

drug:
DB00855;DB01060;DB00415;DB08795;DB00542;DB01053;DB00833;DB01140;DB00456;DB00535;DB01413;DB00671;DB00274;DB00493;DB01333;DB00438;DB01415;DB01212;DB01112;DB00567;DB00672;DB01340;DB01147;DB01000;DB00485;DB00492;DB01016;DB00447;DB00691;DB00731;DB00713;DB00790;DB00881;DB00178;DB01348;DB01124;DB00519;DB00302;DB03424;DB00577;DB01610;

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q16348-1; Sequence=Displayed; Name=2; IsoId=Q16348-2; Sequence=VSP_043084; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000305|PubMed:7756356}; Multi-pass membrane protein {ECO:0000255}.


uniprotID: Q13621
geneSymbol: SLC12A1
reactome: R-HSA-426117;R-HSA-5619104;
length: 1099
go: ENSG00000074803;
drug: DB00887;DB00534;DB00310;DB00903;DB00695;DB00774;DB00232;DB02925;DB00761;DB01325;DB00214;DB01021;
snps: rs137853158 rs137853157 rs1552311
location: SUBCELLULAR LOCATION: Membrane; Multi-pass membrane protein.
name:
Solute carrier family 12 member 1 (Bumetanide-sensitive sodium-(potassium)-chloride cotransporter 2) (Kidney-specific Na-K-Cl symporter)

sequence:

opentargets:
apical plasma membrane [GO:0016324]; extracellular exosome [GO:0070062]; integral component of membrane [GO:0016021]; membrane [GO:0016020]; plasma membrane [GO:0005886]; potassium:chloride symporter activity [GO:0015379]; sodium ion transmembrane transporter activity [GO:0015081]; sodium:chloride symporter activity [GO:0015378]; sodium:potassium:chloride symporter activity [GO:0008511]; cell volume homeostasis [GO:0006884]; chloride ion homeostasis [GO:0055064]; chloride transmembrane transport [GO:1902476]; ion transmembrane transport [GO:0034220]; ion transport [GO:0006811]; potassium ion homeostasis [GO:0055075]; potassium ion import [GO:0010107]; sodium ion transmembrane transport [GO:0035725]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=A; IsoId=Q13621-1; Sequence=Displayed; Name=B; IsoId=Q13621-2; Sequence=Not described; Name=F; IsoId=Q13621-3; Sequence=VSP_035701; 


uniprotID: Q8WXG1
geneSymbol: RSAD2
reactome: R-HSA-909733;
length: 361
go: ENSG00000134321;
snps: rs17851586 rs2305257
name:
Radical S-adenosyl methionine domain-containing protein 2 (Cytomegalovirus-induced gene 5 protein) (Viperin) (Virus inhibitory protein, endoplasmic reticulum-associated, interferon-inducible)

sequence:

opentargets:
endoplasmic reticulum [GO:0005783]; endoplasmic reticulum membrane [GO:0005789]; fibrillar center [GO:0001650]; Golgi apparatus [GO:0005794]; lipid droplet [GO:0005811]; mitochondrial inner membrane [GO:0005743]; mitochondrial outer membrane [GO:0005741]; mitochondrion [GO:0005739]; 4 iron, 4 sulfur cluster binding [GO:0051539]; catalytic activity [GO:0003824]; metal ion binding [GO:0046872]; protein self-association [GO:0043621]; CD4-positive, alpha-beta T cell activation [GO:0035710]; CD4-positive, alpha-beta T cell differentiation [GO:0043367]; defense response to virus [GO:0051607]; negative regulation of protein secretion [GO:0050709]; negative regulation of viral genome replication [GO:0045071]; positive regulation of T-helper 2 cell cytokine production [GO:2000553]; positive regulation of toll-like receptor 7 signaling pathway [GO:0034157]; positive regulation of toll-like receptor 9 signaling pathway [GO:0034165]; response to virus [GO:0009615]; type I interferon signaling pathway [GO:0060337]; viral process [GO:0016032]

location:
SUBCELLULAR LOCATION: Endoplasmic reticulum membrane; Peripheral membrane protein; Cytoplasmic side. Golgi apparatus {ECO:0000269|PubMed:11752458, ECO:0000269|PubMed:16982913}. Endoplasmic reticulum {ECO:0000269|PubMed:11752458, ECO:0000269|PubMed:16982913}. Lipid droplet {ECO:0000250}. Mitochondrion. Mitochondrion inner membrane. Mitochondrion outer membrane. Note=Infection with human cytomegalovirus (HCMV) causes relocation to the Golgi apparatus and to cytoplasmic vacuoles which also contain HCMV proteins glycoprotein B and pp28. Interaction with human cytomegalovirus/HHV-5 protein vMIA/UL37 results in its relocalization from the endoplasmic reticulum to the mitochondria.


uniprotID: O95363
geneSymbol: FARS2
reactome: R-HSA-379726;
pdb: 3CMQ;3HFV;3TEG;3TUP;5MGH;5MGU;5MGV;5MGW;
name: Phenylalanine--tRNA ligase, mitochondrial (EC 6.1.1.20) (Phenylalanyl-tRNA synthetase) (PheRS)
length: 451
go: ENSG00000145982;
drug: DB00120;
snps: rs34382405 rs145555213 rs397514610 rs11243011 rs397514611 rs397514612
sequence:

opentargets:
cytoplasm [GO:0005737]; mitochondrial matrix [GO:0005759]; mitochondrion [GO:0005739]; ATP binding [GO:0005524]; phenylalanine-tRNA ligase activity [GO:0004826]; tRNA binding [GO:0000049]; phenylalanyl-tRNA aminoacylation [GO:0006432]; tRNA aminoacylation for protein translation [GO:0006418]; tRNA processing [GO:0008033]

location:
SUBCELLULAR LOCATION: Mitochondrion matrix {ECO:0000250|UniProtKB:Q6AYQ3}. Mitochondrion {ECO:0000250|UniProtKB:Q6AYQ3}.


uniprotID: Q52WX2
geneSymbol: SBK1
name: Serine/threonine-protein kinase SBK1 (EC 2.7.11.1) (SH3-binding kinase 1)
length: 424
go: ENSG00000188322;
snps: rs35448675 rs56072383
location: SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250}.
sequence:

opentargets:
cytoplasm [GO:0005737]; ATP binding [GO:0005524]; protein serine/threonine kinase activity [GO:0004674]; peptidyl-serine phosphorylation [GO:0018105]; peptidyl-threonine phosphorylation [GO:0018107]


uniprotID: Q9UPW6
geneSymbol: SATB2
reactome: R-HSA-4551638;R-HSA-8940973;
pdb: 1WI3;1WIZ;2CSF;
name: DNA-binding protein SATB2 (Special AT-rich sequence-binding protein 2)
length: 733
go: ENSG00000119042;
snps: rs12619995
sequence:

opentargets:
histone deacetylase complex [GO:0000118]; nuclear matrix [GO:0016363]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; transcription factor complex [GO:0005667]; chromatin binding [GO:0003682]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; proximal promoter DNA-binding transcription activator activity, RNA polymerase II-specific [GO:0001077]; RNA polymerase II proximal promoter sequence-specific DNA binding [GO:0000978]; sequence-specific DNA binding [GO:0043565]; cartilage development [GO:0051216]; cellular response to organic substance [GO:0071310]; chromatin remodeling [GO:0006338]; commitment of neuronal cell to specific neuron type in forebrain [GO:0021902]; embryonic pattern specification [GO:0009880]; embryonic skeletal system morphogenesis [GO:0048704]; negative regulation of transcription by RNA polymerase II [GO:0000122]; neuron migration [GO:0001764]; osteoblast development [GO:0002076]; roof of mouth development [GO:0060021]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9UPW6-1; Sequence=Displayed; Name=2; IsoId=Q9UPW6-2; Sequence=VSP_054416; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Nucleus matrix {ECO:0000255|PROSITE-ProRule:PRU00108, ECO:0000255|PROSITE-ProRule:PRU00374, ECO:0000269|PubMed:14701874}.


uniprotID: Q13228
geneSymbol: SELENBP1
length: 472
go: ENSG00000143416;
name:
Methanethiol oxidase (MTO) (EC 1.8.3.4) (56 kDa selenium-binding protein) (SBP56) (SP56) (Selenium-binding protein 1)

sequence:

opentargets:
cytosol [GO:0005829]; extracellular exosome [GO:0070062]; extracellular space [GO:0005615]; fibrillar center [GO:0001650]; membrane [GO:0016020]; nucleolus [GO:0005730]; methanethiol oxidase activity [GO:0018549]; selenium binding [GO:0008430]; protein transport [GO:0015031]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=Q13228-1; Sequence=Displayed; Name=2; IsoId=Q13228-2; Sequence=VSP_038440; Name=3; IsoId=Q13228-3; Sequence=VSP_045425; Name=4; IsoId=Q13228-4; Sequence=VSP_055126; 

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:14991897}. Cytoplasm, cytosol {ECO:0000269|PubMed:14991897, ECO:0000269|PubMed:16223876}. Membrane {ECO:0000250|UniProtKB:Q8VIF7}; Peripheral membrane protein {ECO:0000250|UniProtKB:Q8VIF7}. Note=May associate with Golgi membrane (By similarity). May associate with the membrane of autophagosomes (By similarity). {ECO:0000250|UniProtKB:Q8VIF7}.


uniprotID: O75396
geneSymbol: SEC22B
reactome: R-HSA-1236974;R-HSA-204005;R-HSA-5694530;R-HSA-6811434;
pdb: 2NUP;2NUT;3EGD;3EGX;
length: 215
snps: rs2596331 rs2794053 rs2655551 rs2590131 rs2655557 rs7534444
name:
Vesicle-trafficking protein SEC22b (ER-Golgi SNARE of 24 kDa) (ERS-24) (ERS24) (SEC22 vesicle-trafficking protein homolog B) (SEC22 vesicle-trafficking protein-like 1)

sequence:

opentargets:
endoplasmic reticulum [GO:0005783]; endoplasmic reticulum membrane [GO:0005789]; endoplasmic reticulum-Golgi intermediate compartment [GO:0005793]; endoplasmic reticulum-Golgi intermediate compartment membrane [GO:0033116]; ER to Golgi transport vesicle membrane [GO:0012507]; Golgi membrane [GO:0000139]; integral component of membrane [GO:0016021]; melanosome [GO:0042470]; phagocytic vesicle membrane [GO:0030670]; SNARE complex [GO:0031201]; synaptic vesicle [GO:0008021]; transport vesicle [GO:0030133]; SNAP receptor activity [GO:0005484]; syntaxin binding [GO:0019905]; antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent [GO:0002479]; COPII vesicle coating [GO:0048208]; ER to Golgi vesicle-mediated transport [GO:0006888]; negative regulation of autophagosome assembly [GO:1902902]; positive regulation of protein catabolic process [GO:0045732]; protein transport [GO:0015031]; retrograde vesicle-mediated transport, Golgi to ER [GO:0006890]; vesicle fusion with endoplasmic reticulum-Golgi intermediate compartment (ERGIC) membrane [GO:1990668]; vesicle fusion with Golgi apparatus [GO:0048280]

location:
SUBCELLULAR LOCATION: Endoplasmic reticulum membrane {ECO:0000250|UniProtKB:Q4KM74}; Single-pass type IV membrane protein {ECO:0000250|UniProtKB:Q4KM74}. Endoplasmic reticulum-Golgi intermediate compartment membrane {ECO:0000250|UniProtKB:Q4KM74}. Golgi apparatus, cis-Golgi network membrane {ECO:0000250|UniProtKB:Q4KM74}. Golgi apparatus, trans-Golgi network membrane {ECO:0000250|UniProtKB:Q4KM74}. Melanosome {ECO:0000269|PubMed:17081065}. Note=Concentrated most in the intermediate compartment/cis-Golgi network and the cis-Golgi cisternae 1 and 2. Greatly reduced in concentration at the trans end of the Golgi apparatus (By similarity). Identified by mass spectrometry in melanosome fractions from stage I to stage IV (PubMed:17081065). {ECO:0000250|UniProtKB:Q4KM74, ECO:0000269|PubMed:17081065}.


uniprotID: Q15437
geneSymbol: SEC23B
name: Protein transport protein Sec23B (hSec23B) (SEC23-related protein B)
length: 767
go: ENSG00000101310;
sequence:

opentargets:
COPII vesicle coat [GO:0030127]; cytosol [GO:0005829]; endomembrane system [GO:0012505]; endoplasmic reticulum [GO:0005783]; endoplasmic reticulum membrane [GO:0005789]; Golgi membrane [GO:0000139]; perinuclear region of cytoplasm [GO:0048471]; GTPase activator activity [GO:0005096]; zinc ion binding [GO:0008270]; cargo loading into COPII-coated vesicle [GO:0090110]; Golgi organization [GO:0007030]; intracellular protein transport [GO:0006886]; macroautophagy [GO:0016236]; regulation of cell shape [GO:0008360]; regulation of COPII vesicle coating [GO:0003400]

snps:
rs121918222 rs905074313 rs121918221 rs36023150 rs761034212 rs953079477 rs17849992 rs41309927 rs17807673 rs780978419 rs2273526 rs727504145 rs398124225 rs121918223 rs752366963 rs201270568 

location:
SUBCELLULAR LOCATION: Cytoplasmic vesicle, COPII-coated vesicle membrane {ECO:0000250|UniProtKB:Q15436}; Peripheral membrane protein {ECO:0000250|UniProtKB:Q15436}; Cytoplasmic side {ECO:0000250|UniProtKB:Q15436}. Endoplasmic reticulum membrane {ECO:0000269|PubMed:26522472}; Peripheral membrane protein {ECO:0000250|UniProtKB:Q15436}; Cytoplasmic side {ECO:0000250|UniProtKB:Q15436}. Cytoplasm, cytosol {ECO:0000250|UniProtKB:Q15436}.


uniprotID: P13866
geneSymbol: SLC5A1
reactome: R-HSA-189200;R-HSA-5656364;R-HSA-8981373;
length: 664
go: ENSG00000100170;
drug: DB08907;
snps: rs121912669 rs121912668 rs17683011 rs371505974 rs17683430 rs200406921
location: SUBCELLULAR LOCATION: Membrane; Multi-pass membrane protein.
name:
Sodium/glucose cotransporter 1 (Na(+)/glucose cotransporter 1) (High affinity sodium-glucose cotransporter) (Solute carrier family 5 member 1)

sequence:

opentargets:
extracellular exosome [GO:0070062]; integral component of plasma membrane [GO:0005887]; plasma membrane [GO:0005886]; glucose:sodium symporter activity [GO:0005412]; glucose transmembrane transport [GO:1904659]; intestinal hexose absorption [GO:0106001]; sodium ion transport [GO:0006814]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P13866-1; Sequence=Displayed; Name=2; IsoId=P13866-2; Sequence=VSP_044782; Note=No experimental confirmation available.; 


uniprotID: O94855
geneSymbol: SEC24D
reactome: R-HSA-1655829;R-HSA-204005;R-HSA-2132295;R-HSA-5694530;R-HSA-983170;
pdb: 3EFO;3EG9;5KYU;5KYW;5KYX;5KYY;
name: Protein transport protein Sec24D (SEC24-related protein D)
length: 1032
go: ENSG00000150961;
snps: rs10029206 rs6844109 rs11723368 rs786204846 rs760670617
sequence:

opentargets:
COPII vesicle coat [GO:0030127]; cytosol [GO:0005829]; endoplasmic reticulum membrane [GO:0005789]; ER to Golgi transport vesicle membrane [GO:0012507]; Golgi membrane [GO:0000139]; SNARE binding [GO:0000149]; zinc ion binding [GO:0008270]; antigen processing and presentation of exogenous peptide antigen via MHC class II [GO:0019886]; antigen processing and presentation of peptide antigen via MHC class I [GO:0002474]; cargo loading into COPII-coated vesicle [GO:0090110]; COPII vesicle coating [GO:0048208]; ER to Golgi vesicle-mediated transport [GO:0006888]; in utero embryonic development [GO:0001701]; intracellular protein transport [GO:0006886]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=O94855-1; Sequence=Displayed; Name=2; IsoId=O94855-2; Sequence=VSP_035761; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasmic vesicle, COPII-coated vesicle membrane {ECO:0000269|PubMed:10329445}; Peripheral membrane protein {ECO:0000250|UniProtKB:P53992}; Cytoplasmic side {ECO:0000250|UniProtKB:P53992}. Endoplasmic reticulum membrane {ECO:0000305|PubMed:10329445}; Peripheral membrane protein {ECO:0000250|UniProtKB:P53992}; Cytoplasmic side {ECO:0000250|UniProtKB:P53992}. Cytoplasm, cytosol {ECO:0000250|UniProtKB:P53992}.


uniprotID: Q9Y289
geneSymbol: SLC5A6
reactome: R-HSA-196780;R-HSA-199220;R-HSA-425397;
length: 635
go: ENSG00000138074;
drug: DB00121;DB08872;DB00166;
snps: rs1395 rs1064845
location: SUBCELLULAR LOCATION: Membrane; Multi-pass membrane protein.
name:
Sodium-dependent multivitamin transporter (Na(+)-dependent multivitamin transporter) (Solute carrier family 5 member 6)

sequence:

opentargets:
brush border membrane [GO:0031526]; integral component of plasma membrane [GO:0005887]; membrane [GO:0016020]; plasma membrane [GO:0005886]; vesicle membrane [GO:0012506]; sodium-dependent multivitamin transmembrane transporter activity [GO:0008523]; biotin transport [GO:0015878]; pantothenate transmembrane transport [GO:0015887]


uniprotID: Q1EHB4
geneSymbol: SLC5A12
reactome: R-HSA-427601;
length: 618
go: ENSG00000148942;
snps: rs12278761
name:
Sodium-coupled monocarboxylate transporter 2 (Electroneutral sodium monocarboxylate cotransporter) (Low-affinity sodium-lactate cotransporter) (Solute carrier family 5 member 12)

sequence:

opentargets:
apical plasma membrane [GO:0016324]; extracellular exosome [GO:0070062]; integral component of membrane [GO:0016021]; plasma membrane [GO:0005886]; lactate transmembrane transporter activity [GO:0015129]; organic acid:sodium symporter activity [GO:0005343]; ion transport [GO:0006811]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q1EHB4-1; Sequence=Displayed; Name=2; IsoId=Q1EHB4-2; Sequence=VSP_033994, VSP_033995; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Apical cell membrane {ECO:0000269|PubMed:17692818}; Multi-pass membrane protein {ECO:0000269|PubMed:17692818}. Note=Detected at the brush border membrane of the kidney. Colocalizes with viementin in Mueller cells (By similarity). {ECO:0000250}.


uniprotID: Q8WWX8
geneSymbol: SLC5A11
reactome: R-HSA-429593;
length: 675
go: ENSG00000158865;
snps: rs36048966 rs11074656 rs35993597 rs17854935 rs35038575
name:
Sodium/myo-inositol cotransporter 2 (Na(+)/myo-inositol cotransporter 2) (Sodium-dependent glucose cotransporter) (Sodium/glucose cotransporter KST1) (Sodium/myo-inositol transporter 2) (SMIT2) (Solute carrier family 5 member 11)

sequence:

opentargets:
integral component of membrane [GO:0016021]; plasma membrane [GO:0005886]; polyol transmembrane transporter activity [GO:0015166]; symporter activity [GO:0015293]; apoptotic process [GO:0006915]; carbohydrate transport [GO:0008643]; myo-inositol transport [GO:0015798]; sodium ion transport [GO:0006814]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=6;  Name=1 {ECO:0000269|PubMed:12039040}; IsoId=Q8WWX8-1; Sequence=Displayed; Name=2 {ECO:0000269|PubMed:12039040}; IsoId=Q8WWX8-2; Sequence=VSP_052790; Name=3 {ECO:0000269|PubMed:15489334}; IsoId=Q8WWX8-3; Sequence=VSP_052789; Note=No experimental confirmation available. {ECO:0000305}; Name=4; IsoId=Q8WWX8-4; Sequence=VSP_033259; Note=No experimental confirmation available.; Name=5; IsoId=Q8WWX8-5; Sequence=VSP_045034, VSP_052790; Note=No experimental confirmation available.; Name=6; IsoId=Q8WWX8-6; Sequence=VSP_052789, VSP_045035, VSP_045036; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Membrane {ECO:0000250|UniProtKB:Q28728}; Multi-pass membrane protein {ECO:0000250|UniProtKB:Q28728}.


uniprotID: Q92791
geneSymbol: P3H4
length: 437
go: ENSG00000141696;
snps: rs13412
location: SUBCELLULAR LOCATION: Endoplasmic reticulum {ECO:0000269|PubMed:23959653}.
name:
Endoplasmic reticulum protein SC65 (Leprecan-like protein 4) (Nucleolar autoantigen No55) (Prolyl 3-hydroxylase family member 4) (Synaptonemal complex protein SC65)

sequence:

opentargets:
catalytic complex [GO:1902494]; condensed nuclear chromosome [GO:0000794]; endoplasmic reticulum [GO:0005783]; nucleolus [GO:0005730]; synaptonemal complex [GO:0000795]; bone remodeling [GO:0046849]; collagen biosynthetic process [GO:0032964]; collagen fibril organization [GO:0030199]; peptidyl-lysine hydroxylation [GO:0017185]; synaptonemal complex assembly [GO:0007130]


uniprotID: P23975
geneSymbol: SLC6A2
reactome: R-HSA-442660;R-HSA-5619109;
length: 617
go: ENSG00000103546;
name:
Sodium-dependent noradrenaline transporter (Norepinephrine transporter) (NET) (Solute carrier family 6 member 2)

sequence:

opentargets:
cell surface [GO:0009986]; integral component of plasma membrane [GO:0005887]; membrane [GO:0016020]; membrane raft [GO:0045121]; neuron projection [GO:0043005]; neuronal cell body membrane [GO:0032809]; plasma membrane [GO:0005886]; presynaptic membrane [GO:0042734]; actin binding [GO:0003779]; alpha-tubulin binding [GO:0043014]; beta-tubulin binding [GO:0048487]; dopamine:sodium symporter activity [GO:0005330]; metal ion binding [GO:0046872]; monoamine transmembrane transporter activity [GO:0008504]; neurotransmitter:sodium symporter activity [GO:0005328]; norepinephrine:sodium symporter activity [GO:0005334]; chemical synaptic transmission [GO:0007268]; dopamine uptake involved in synaptic transmission [GO:0051583]; monoamine transport [GO:0015844]; neuron cellular homeostasis [GO:0070050]; norepinephrine transport [GO:0015874]; response to pain [GO:0048265]

drug:
DB04836;DB00321;DB00543;DB00182;DB00289;DB04889;DB01156;DB01114;DB00215;DB01242;DB00907;DB05688;DB04840;DB01151;DB06700;DB06701;DB01576;DB00514;DB00937;DB00988;DB01142;DB06262;DB00476;DB01363;DB01364;DB00696;DB01175;DB01381;DB00226;DB01170;DB00458;DB06704;DB01221;DB08918;DB00408;DB00934;DB00579;DB01577;DB00422;DB06148;DB04896;DB00370;DB01442;DB01149;DB04821;DB00368;DB00540;DB01173;DB00715;DB00454;DB01579;DB00830;DB00191;DB00344;DB00852;DB00234;DB01105;DB06204;DB00193;DB00726;DB00285;DB05012;

snps:
rs11568323 rs1805064 rs1805065 rs1805066 rs45564432 rs5563 rs5565 rs5566 rs5567 rs2234910 rs121918126 rs5570 rs1805067 rs5558 rs5559 rs3743788 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=P23975-1; Sequence=Displayed; Name=2; IsoId=P23975-2; Sequence=VSP_044479; Name=3; IsoId=P23975-3; Sequence=VSP_054119; 

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:2008212}; Multi-pass membrane protein {ECO:0000250|UniProtKB:Q7K4Y6}.


uniprotID: Q01959
geneSymbol: SLC6A3
reactome: R-HSA-379401;R-HSA-442660;R-HSA-5619081;R-HSA-5660724;
name: Sodium-dependent dopamine transporter (DA transporter) (DAT) (Solute carrier family 6 member 3)
length: 620
go: ENSG00000142319;
snps: rs760871529 rs6345 rs267607068 rs267607069 rs75916702
sequence:

opentargets:
axon [GO:0030424]; cell surface [GO:0009986]; cytoplasm [GO:0005737]; dopaminergic synapse [GO:0098691]; flotillin complex [GO:0016600]; integral component of membrane [GO:0016021]; integral component of postsynaptic membrane [GO:0099055]; integral component of presynaptic membrane [GO:0099056]; membrane raft [GO:0045121]; neuron projection [GO:0043005]; neuronal cell body [GO:0043025]; plasma membrane [GO:0005886]; dopamine binding [GO:0035240]; dopamine:sodium symporter activity [GO:0005330]; metal ion binding [GO:0046872]; monoamine transmembrane transporter activity [GO:0008504]; neurotransmitter:sodium symporter activity [GO:0005328]; protease binding [GO:0002020]; protein N-terminus binding [GO:0047485]; protein phosphatase 2A binding [GO:0051721]; protein-containing complex binding [GO:0044877]; signaling receptor binding [GO:0005102]; adenohypophysis development [GO:0021984]; aging [GO:0007568]; dopamine biosynthetic process [GO:0042416]; dopamine catabolic process [GO:0042420]; dopamine transport [GO:0015872]; dopamine uptake [GO:0090494]; lactation [GO:0007595]; locomotory behavior [GO:0007626]; monoamine transport [GO:0015844]; neurotransmitter biosynthetic process [GO:0042136]; neurotransmitter uptake [GO:0001504]; positive regulation of multicellular organism growth [GO:0040018]; prepulse inhibition [GO:0060134]; regulation of dopamine metabolic process [GO:0042053]; response to cAMP [GO:0051591]; response to cocaine [GO:0042220]; response to ethanol [GO:0045471]; response to iron ion [GO:0010039]; response to nicotine [GO:0035094]; sensory perception of smell [GO:0007608]

drug:
DB01472;DB04947;DB00543;DB00182;DB06413;DB00289;DB00245;DB00865;DB01156;DB01161;DB01114;DB00215;DB00907;DB06701;DB01576;DB00937;DB01146;DB00988;DB00476;DB01363;DB01175;DB01463;DB00458;DB08824;DB01255;DB00408;DB00579;DB01577;DB09543;DB00422;DB06148;DB00370;DB01442;DB00745;DB01149;DB04821;DB00454;DB00830;DB00191;DB00721;DB00852;DB01104;DB01105;DB00726;DB00285;

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:1406597, ECO:0000269|PubMed:15505207, ECO:0000269|PubMed:8302271}; Multi-pass membrane protein {ECO:0000269|PubMed:15505207}.


uniprotID: P31645
geneSymbol: SLC6A4
reactome: R-HSA-380615;
pdb: 5I6X;5I6Z;5I71;5I73;5I74;5I75;6AWN;6AWO;6AWP;6AWQ;
length: 630
go: ENSG00000108576;
snps: rs6355 rs2228673 rs28914832 rs28914832 rs28914833 rs28914834 rs6352
name:
Sodium-dependent serotonin transporter (SERT) (5HT transporter) (5HTT) (Solute carrier family 6 member 4)

sequence:

opentargets:
cytosol [GO:0005829]; endomembrane system [GO:0012505]; endosome membrane [GO:0010008]; integral component of plasma membrane [GO:0005887]; integral component of postsynaptic membrane [GO:0099055]; integral component of presynaptic membrane [GO:0099056]; membrane raft [GO:0045121]; neuron projection [GO:0043005]; plasma membrane [GO:0005886]; serotonergic synapse [GO:0099154]; actin filament binding [GO:0051015]; cocaine binding [GO:0019811]; metal ion binding [GO:0046872]; monoamine transmembrane transporter activity [GO:0008504]; myosin binding [GO:0017022]; nitric-oxide synthase binding [GO:0050998]; protein homodimerization activity [GO:0042803]; Rab GTPase binding [GO:0017137]; serotonin binding [GO:0051378]; serotonin:sodium symporter activity [GO:0005335]; syntaxin-1 binding [GO:0017075]; brain morphogenesis [GO:0048854]; cellular response to cGMP [GO:0071321]; cellular response to retinoic acid [GO:0071300]; circadian rhythm [GO:0007623]; memory [GO:0007613]; monoamine transport [GO:0015844]; negative regulation of cerebellar granule cell precursor proliferation [GO:0021941]; negative regulation of neuron differentiation [GO:0045665]; negative regulation of organ growth [GO:0046621]; negative regulation of synaptic transmission, dopaminergic [GO:0032227]; neurotransmitter biosynthetic process [GO:0042136]; positive regulation of cell cycle [GO:0045787]; positive regulation of gene expression [GO:0010628]; positive regulation of serotonin secretion [GO:0014064]; protein complex oligomerization [GO:0051259]; protein homooligomerization [GO:0051260]; regulation of thalamus size [GO:0090067]; response to drug [GO:0042493]; response to estradiol [GO:0032355]; response to hypoxia [GO:0001666]; response to nutrient [GO:0007584]; response to toxic substance [GO:0009636]; serotonin transport [GO:0006837]; serotonin uptake [GO:0051610]; social behavior [GO:0035176]; sperm ejaculation [GO:0042713]; vasoconstriction [GO:0042310]

drug:
DB01472;DB04836;DB00321;DB00543;DB00182;DB00289;DB04889;DB09016;DB01114;DB00215;DB01242;DB00907;DB05688;DB01151;DB06700;DB01191;DB06701;DB00514;DB00988;DB01142;DB00476;DB01363;DB01175;DB00574;DB00472;DB00176;DB00458;DB08918;DB00408;DB00579;DB01577;DB09543;DB00422;DB06148;DB04896;DB00805;DB00370;DB01442;DB01149;DB00540;DB05422;DB00715;DB00454;DB00191;DB00344;DB00852;DB01104;DB01105;DB06204;DB01079;DB00193;DB00656;DB00726;DB00285;DB00661;DB06684;DB09068;DB04832;

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P31645-1; Sequence=Displayed; Name=2; IsoId=P31645-2; Sequence=VSP_046553; 

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:16870614, ECO:0000269|PubMed:17506858, ECO:0000269|PubMed:18227069, ECO:0000269|PubMed:19270731, ECO:0000269|PubMed:27049939}; Multi-pass membrane protein {ECO:0000250|UniProtKB:Q7K4Y6, ECO:0000269|PubMed:27049939}. Endomembrane system {ECO:0000269|PubMed:16870614}; Multi-pass membrane protein {ECO:0000255}. Endosome membrane {ECO:0000269|PubMed:16870614, ECO:0000269|PubMed:18227069}; Multi-pass membrane protein {ECO:0000255}. Note=Could be part of recycling endosomes (PubMed:18227069, PubMed:16870614). Density of transporter molecules on the plasma membrane is itself regulated by STX1A (By similarity). Density of transporter molecules on the plasma membrane is also regulated by serotonin (PubMed:17506858) (PubMed:18227069). {ECO:0000250|UniProtKB:P31652, ECO:0000269|PubMed:16870614, ECO:0000269|PubMed:17506858, ECO:0000269|PubMed:18227069}.


uniprotID: Q99590
geneSymbol: SCAF11
length: 1463
go: ENSG00000139218;
snps: rs7315731 rs11574973
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:9447963}.
name:
Protein SCAF11 (CTD-associated SR protein 11) (Renal carcinoma antigen NY-REN-40) (SC35-interacting protein 1) (SR-related and CTD-associated factor 11) (SRSF2-interacting protein) (Serine/arginine-rich splicing factor 2-interacting protein) (Splicing factor, arginine/serine-rich 2-interacting protein) (Splicing regulatory protein 129) (SRrp129)

sequence:

opentargets:
nuclear body [GO:0016604]; nucleolus [GO:0005730]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; metal ion binding [GO:0046872]; RNA binding [GO:0003723]; mRNA processing [GO:0006397]; RNA splicing [GO:0008380]; RNA splicing, via transesterification reactions [GO:0000375]; spliceosomal complex assembly [GO:0000245]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q99590-1; Sequence=Displayed; Name=2; IsoId=Q99590-2; Sequence=VSP_037665; 


uniprotID: Q9BVL4
geneSymbol: SELENOO
name: Selenoprotein O (SelO)
length: 669
go: ENSG00000073169;
opentargets: mitochondrion [GO:0005739]
snps: rs5771225 rs2272846 rs2272852 rs17013238
location: SUBCELLULAR LOCATION: Mitochondrion {ECO:0000269|PubMed:24751718}.
sequence:


uniprotID: Q9BQE4
geneSymbol: SELENOS
reactome: R-HSA-8866654;
pdb: 2Q2F;5KIU;5KIY;
name: Selenoprotein S (SelS) (VCP-interacting membrane protein)
length: 189
go: ENSG00000131871;
sequence:
MERQEESLSARPALETEGLRFLHTTVGSLLATYGWYIVFSCILLYVVFQKLSARLRALRQRQLDRAAAAVEPDVVVKRQEALAAARLKMQEELNAQVEKHKEKLKQLEEEKRRQKIEMWDSMQEGKSYKGNAKKPQEEDSPGPSTSSVLKRKSDRKPLRGGGYNPLSGEGGGACSWRPGRRGPSSGGUG

opentargets:
cytoplasmic microtubule [GO:0005881]; Derlin-1 retrotranslocation complex [GO:0036513]; Derlin-1-VIMP complex [GO:0036502]; endoplasmic reticulum [GO:0005783]; endoplasmic reticulum membrane [GO:0005789]; integral component of endoplasmic reticulum membrane [GO:0030176]; low-density lipoprotein particle [GO:0034362]; plasma membrane [GO:0005886]; very-low-density lipoprotein particle [GO:0034361]; antioxidant activity [GO:0016209]; ATPase binding [GO:0051117]; enzyme binding [GO:0019899]; signaling receptor activity [GO:0038023]; ubiquitin-specific protease binding [GO:1990381]; cell redox homeostasis [GO:0045454]; cellular response to insulin stimulus [GO:0032869]; cellular response to lipopolysaccharide [GO:0071222]; cellular response to oxidative stress [GO:0034599]; endoplasmic reticulum unfolded protein response [GO:0030968]; ER overload response [GO:0006983]; establishment of protein localization [GO:0045184]; negative regulation of acute inflammatory response to antigenic stimulus [GO:0002865]; negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway [GO:1902236]; negative regulation of glucose import [GO:0046325]; negative regulation of glycogen biosynthetic process [GO:0045719]; negative regulation of inflammatory response [GO:0050728]; negative regulation of interleukin-6 production [GO:0032715]; negative regulation of macrophage apoptotic process [GO:2000110]; negative regulation of nitric-oxide synthase biosynthetic process [GO:0051771]; negative regulation of tumor necrosis factor production [GO:0032720]; protein ubiquitination [GO:0016567]; regulation of gluconeogenesis [GO:0006111]; regulation of nitric oxide metabolic process [GO:0080164]; response to glucose [GO:0009749]; response to redox state [GO:0051775]; retrograde protein transport, ER to cytosol [GO:0030970]; ubiquitin-dependent ERAD pathway [GO:0030433]

location:
SUBCELLULAR LOCATION: Endoplasmic reticulum membrane; Single-pass membrane protein. Cytoplasm {ECO:0000250}.


uniprotID: P62341
geneSymbol: SELENOT
name: Thioredoxin reductase-like selenoprotein T (SelT) (EC 1.8.1.9)
length: 195
go: ENSG00000198843;
sequence:
MRLLLLLLVAASAMVRSEASANLGGVPSKRLKMQYATGPLLKFQICVSUGYRRVFEEYMRVISQRYPDIRIEGENYLPQPIYRHIASFLSVFKLVLIGLIIVGKDPFAFFGMQAPSIWQWGQENKVYACMMVFFLSNMIENQCMSTGAFEITLNDVPVWSKLESGHLPSMQQLVQILDNEMKLNVHMDSIPHHRS

opentargets:
endoplasmic reticulum [GO:0005783]; endoplasmic reticulum membrane [GO:0005789]; integral component of membrane [GO:0016021]; selenium binding [GO:0008430]; thioredoxin-disulfide reductase activity [GO:0004791]; cell redox homeostasis [GO:0045454]; cellular oxidant detoxification [GO:0098869]; glucose homeostasis [GO:0042593]; insulin secretion involved in cellular response to glucose stimulus [GO:0035773]; pancreas development [GO:0031016]; positive regulation of cytosolic calcium ion concentration [GO:0007204]; positive regulation of growth hormone secretion [GO:0060124]; response to glucose [GO:0009749]; selenocysteine incorporation [GO:0001514]

location:
SUBCELLULAR LOCATION: Endoplasmic reticulum membrane {ECO:0000250|UniProtKB:Q1H5H1}; Single-pass membrane protein {ECO:0000255}.


uniprotID: Q13214
geneSymbol: SEMA3B
name: Semaphorin-3B (Sema A(V)) (Semaphorin-V) (Sema V)
length: 749
go: ENSG00000012171;
snps: rs2071203
sequence:

opentargets:
endoplasmic reticulum [GO:0005783]; extracellular space [GO:0005615]; integral component of plasma membrane [GO:0005887]; chemorepellent activity [GO:0045499]; neuropilin binding [GO:0038191]; semaphorin receptor binding [GO:0030215]; axon guidance [GO:0007411]; cell-cell signaling [GO:0007267]; chemorepulsion of axon [GO:0061643]; negative chemotaxis [GO:0050919]; negative regulation of axon extension involved in axon guidance [GO:0048843]; neural crest cell migration [GO:0001755]; positive regulation of cell migration [GO:0030335]; semaphorin-plexin signaling pathway [GO:0071526]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q13214-1; Sequence=Displayed; Name=2; IsoId=Q13214-2; Sequence=VSP_023032; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Secreted {ECO:0000250}. Endoplasmic reticulum. Note=Accumulates in the endoplasmic reticulum.


uniprotID: Q99985
geneSymbol: SEMA3C
name: Semaphorin-3C (Semaphorin-E) (Sema E)
length: 751
go: ENSG00000075223;
snps: rs35070362 rs1527482
location: SUBCELLULAR LOCATION: Secreted.
sequence:

opentargets:
extracellular exosome [GO:0070062]; extracellular space [GO:0005615]; integral component of plasma membrane [GO:0005887]; chemorepellent activity [GO:0045499]; neuropilin binding [GO:0038191]; semaphorin receptor binding [GO:0030215]; axon guidance [GO:0007411]; blood vessel remodeling [GO:0001974]; cardiac endothelial to mesenchymal transition [GO:0140074]; cardiac right ventricle morphogenesis [GO:0003215]; dichotomous subdivision of terminal units involved in salivary gland branching [GO:0060666]; immune response [GO:0006955]; limb bud formation [GO:0060174]; negative chemotaxis [GO:0050919]; negative regulation of axon extension involved in axon guidance [GO:0048843]; neural crest cell migration [GO:0001755]; neural tube development [GO:0021915]; outflow tract septum morphogenesis [GO:0003148]; positive regulation of cardiac neural crest cell migration involved in outflow tract morphogenesis [GO:1905312]; positive regulation of cell migration [GO:0030335]; post-embryonic development [GO:0009791]; pulmonary myocardium development [GO:0003350]; response to drug [GO:0042493]; semaphorin-plexin signaling pathway [GO:0071526]; somitogenesis [GO:0001756]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q99985-1; Sequence=Displayed; Name=2; IsoId=Q99985-2; Sequence=VSP_055886, VSP_055887, VSP_055888; Note=No experimental confirmation available.; 


uniprotID: Q9P283
geneSymbol: SEMA5B
reactome: R-HSA-5083635;R-HSA-5173214;
name: Semaphorin-5B
length: 1151
go: ENSG00000082684;
snps: rs148102705 rs2276774 rs2276781 rs2276782 rs35306342 rs2303983
location: SUBCELLULAR LOCATION: Membrane; Single-pass type III membrane protein.
sequence:

opentargets:
integral component of membrane [GO:0016021]; chemorepellent activity [GO:0045499]; semaphorin receptor binding [GO:0030215]; axon extension [GO:0048675]; detection of light stimulus involved in visual perception [GO:0050908]; negative regulation of axon extension involved in axon guidance [GO:0048843]; neural crest cell migration [GO:0001755]; neuron projection guidance [GO:0097485]; positive regulation of cell migration [GO:0030335]; semaphorin-plexin signaling pathway [GO:0071526]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=Q9P283-1; Sequence=Displayed; Name=2; IsoId=Q9P283-2; Sequence=VSP_029462, VSP_029464, VSP_029465; Note=No experimental confirmation available.; Name=3; IsoId=Q9P283-3; Sequence=VSP_029463; Note=No experimental confirmation available.; Name=4; IsoId=Q9P283-4; Sequence=VSP_044748; Note=No experimental confirmation available. {ECO:0000305}; 


uniprotID: Q9H3S1
geneSymbol: SEMA4A
reactome: R-HSA-416700;
name: Semaphorin-4A (Semaphorin-B) (Sema B)
length: 761
go: ENSG00000196189;
snps: rs267607033 rs267607034 rs2075164 rs41265017
sequence:

opentargets:
cytosol [GO:0005829]; extracellular space [GO:0005615]; integral component of plasma membrane [GO:0005887]; intracellular membrane-bounded organelle [GO:0043231]; nucleus [GO:0005634]; plasma membrane [GO:0005886]; chemorepellent activity [GO:0045499]; neuropilin binding [GO:0038191]; semaphorin receptor binding [GO:0030215]; angiogenesis [GO:0001525]; axonogenesis [GO:0007409]; negative chemotaxis [GO:0050919]; negative regulation of angiogenesis [GO:0016525]; negative regulation of axon extension involved in axon guidance [GO:0048843]; neural crest cell migration [GO:0001755]; positive regulation of cell migration [GO:0030335]; regulation of cell shape [GO:0008360]; regulation of endothelial cell migration [GO:0010594]; semaphorin-plexin signaling pathway [GO:0071526]; T-helper 1 cell differentiation [GO:0045063]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9H3S1-1; Sequence=Displayed; Name=2; IsoId=Q9H3S1-2; Sequence=VSP_046381, VSP_046382; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:22956603}; Single-pass type I membrane protein {ECO:0000250|UniProtKB:Q62178}.


uniprotID: Q9NPR2
geneSymbol: SEMA4B
name: Semaphorin-4B
length: 832
location: SUBCELLULAR LOCATION: Membrane; Single-pass type I membrane protein.
sequence:

opentargets:
extracellular space [GO:0005615]; integral component of plasma membrane [GO:0005887]; plasma membrane [GO:0005886]; chemorepellent activity [GO:0045499]; neuropilin binding [GO:0038191]; semaphorin receptor binding [GO:0030215]; negative chemotaxis [GO:0050919]; negative regulation of axon extension involved in axon guidance [GO:0048843]; neural crest cell migration [GO:0001755]; positive regulation of cell migration [GO:0030335]; semaphorin-plexin signaling pathway [GO:0071526]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9NPR2-1; Sequence=Displayed; Name=2; IsoId=Q9NPR2-2; Sequence=VSP_012460; Note=No experimental confirmation available.; 


uniprotID: Q9C0C4
geneSymbol: SEMA4C
name: Semaphorin-4C
length: 833
go: ENSG00000168758;
sequence:

opentargets:
cell junction [GO:0030054]; extracellular space [GO:0005615]; integral component of plasma membrane [GO:0005887]; postsynaptic density [GO:0014069]; postsynaptic membrane [GO:0045211]; synaptic vesicle membrane [GO:0030672]; chemorepellent activity [GO:0045499]; neuropilin binding [GO:0038191]; semaphorin receptor binding [GO:0030215]; cell migration in hindbrain [GO:0021535]; cerebellum development [GO:0021549]; muscle cell differentiation [GO:0042692]; negative chemotaxis [GO:0050919]; negative regulation of axon extension involved in axon guidance [GO:0048843]; neural crest cell migration [GO:0001755]; neural tube closure [GO:0001843]; positive regulation of cell migration [GO:0030335]; positive regulation of stress-activated MAPK cascade [GO:0032874]; semaphorin-plexin signaling pathway [GO:0071526]

location:
SUBCELLULAR LOCATION: Cell junction, synapse, postsynaptic cell membrane, postsynaptic density {ECO:0000250}; Single-pass type I membrane protein {ECO:0000250}. Cytoplasmic vesicle, secretory vesicle, synaptic vesicle membrane {ECO:0000250}; Single-pass type I membrane protein {ECO:0000250}.


uniprotID: P56192
geneSymbol: MARS
reactome: R-HSA-2408517;R-HSA-379716;
pdb: 2DJV;4BL7;4BVX;4BVY;5GL7;5GOY;5Y6L;
name: Methionine--tRNA ligase, cytoplasmic (EC 6.1.1.10) (Methionyl-tRNA synthetase) (MetRS)
length: 900
go: ENSG00000166986;
drug: DB00134;
sequence:

opentargets:
aminoacyl-tRNA synthetase multienzyme complex [GO:0017101]; cytoplasm [GO:0005737]; cytosol [GO:0005829]; extracellular exosome [GO:0070062]; membrane [GO:0016020]; nucleolus [GO:0005730]; ATP binding [GO:0005524]; methionine-tRNA ligase activity [GO:0004825]; tRNA binding [GO:0000049]; cellular response to epidermal growth factor stimulus [GO:0071364]; cellular response to insulin stimulus [GO:0032869]; cellular response to platelet-derived growth factor stimulus [GO:0036120]; cellular response to starvation [GO:0009267]; methionyl-tRNA aminoacylation [GO:0006431]; positive regulation of transcription of nucleolar large rRNA by RNA polymerase I [GO:1901838]; rRNA transcription [GO:0009303]; tRNA aminoacylation for protein translation [GO:0006418]

snps:
rs587777227 rs138776588 rs766466297 rs140467171 rs141340466 rs201555303 rs143592405 rs756021768 rs587777718 rs1054403 rs587777228 rs113808165 rs781249411 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P56192-1; Sequence=Displayed; Name=2; IsoId=P56192-2; Sequence=VSP_056563, VSP_056564; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasm, cytosol {ECO:0000269|PubMed:19289464, ECO:0000305|PubMed:26472928}.


uniprotID: P04279
geneSymbol: SEMG1
reactome: R-HSA-6803157;R-HSA-977225;
length: 462
go: ENSG00000124233;
snps: rs11559137 rs2301366 rs2233884 rs2233887
location: SUBCELLULAR LOCATION: Secreted.
name:
Semenogelin-1 (Cancer/testis antigen 103) (Semenogelin I) (SGI) [Cleaved into: Alpha-inhibin-92; Alpha-inhibin-31; Seminal basic protein]

sequence:

opentargets:
extracellular exosome [GO:0070062]; extracellular region [GO:0005576]; extracellular space [GO:0005615]; nucleus [GO:0005634]; protein-containing complex [GO:0032991]; metal ion binding [GO:0046872]; antibacterial humoral response [GO:0019731]; antimicrobial humoral immune response mediated by antimicrobial peptide [GO:0061844]; antimicrobial humoral response [GO:0019730]; cellular protein metabolic process [GO:0044267]; coagulation [GO:0050817]; insemination [GO:0007320]; killing of cells of other organism [GO:0031640]; negative regulation of calcium ion import [GO:0090281]; negative regulation of flagellated sperm motility [GO:1901318]; positive regulation of serine-type endopeptidase activity [GO:1900005]; protein heterooligomerization [GO:0051291]; sperm capacitation [GO:0048240]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P04279-1; Sequence=Displayed; Name=2; IsoId=P04279-2; Sequence=VSP_004385; Note=No experimental confirmation available.; 


uniprotID: Q6ZVN7
geneSymbol: SEM1
name: Putative protein SEM1, isoform 2
length: 128
go: ENSG00000127922;
sequence:
MYCQDSNICAVFAVQGGKVGRKHGIKRGRRPSIRSPAQRARGPWIHESKHPAFAKQQINLEMPNSRATTELAWVCSSTSRKKKWARSLTLSTAPLSPPPSLVHCEDCSCLPGCHSGDLYNLAPAERTC

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative promoter usage; Named isoforms=2;  Name=2; IsoId=Q6ZVN7-1; Sequence=Displayed; Name=1; IsoId=P60896-1; Sequence=External; 


uniprotID: Q96HI0
geneSymbol: SENP5
reactome: R-HSA-3065679;
name: Sentrin-specific protease 5 (EC 3.4.22.-) (Sentrin/SUMO-specific protease SENP5)
length: 755
go: ENSG00000119231;
snps: rs35434690 rs34251880
sequence:

opentargets:
nucleolus [GO:0005730]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; SUMO-specific endopeptidase activity [GO:0070139]; cell cycle [GO:0007049]; cell division [GO:0051301]; protein desumoylation [GO:0016926]; protein sumoylation [GO:0016925]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q96HI0-1; Sequence=Displayed; Name=2; IsoId=Q96HI0-2; Sequence=VSP_056415; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Nucleus, nucleolus {ECO:0000269|PubMed:16608850, ECO:0000269|PubMed:16738315}.


uniprotID: Q92797
geneSymbol: SYMPK
reactome: R-HSA-109688;R-HSA-159231;R-HSA-72163;R-HSA-72187;R-HSA-77595;
pdb: 3O2Q;3O2S;3O2T;3ODR;3ODS;4H3H;4H3K;
name: Symplekin
length: 1274
go: ENSG00000125755;
sequence:

opentargets:
bicellular tight junction [GO:0005923]; cytoplasm [GO:0005737]; cytoskeleton [GO:0005856]; cytosol [GO:0005829]; nuclear stress granule [GO:0097165]; nucleoplasm [GO:0005654]; plasma membrane [GO:0005886]; cell adhesion [GO:0007155]; mRNA 3'-end processing [GO:0031124]; mRNA export from nucleus [GO:0006406]; mRNA polyadenylation [GO:0006378]; mRNA splicing, via spliceosome [GO:0000398]; negative regulation of protein binding [GO:0032091]; positive regulation of protein dephosphorylation [GO:0035307]; termination of RNA polymerase II transcription [GO:0006369]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Comment=Additional isoforms seem to exist.; Name=1; IsoId=Q92797-1; Sequence=Displayed; Name=2; IsoId=Q92797-2; Sequence=VSP_014842, VSP_014843; Note=May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay. No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton. Cell junction, tight junction. Cell membrane; Peripheral membrane protein; Cytoplasmic side. Cell junction. Nucleus, nucleoplasm. Note=Cytoplasmic face of adhesion plaques (major) and nucleoplasm (minor) (in cells with TJ). Nucleoplasm (in cells without TJ). Nuclear bodies of heat-stressed cells. Colocalizes with HSF1 in nuclear stress bodies upon heat shock (PubMed:14707147). {ECO:0000269|PubMed:14707147}.


uniprotID: P49908
geneSymbol: SELENOP
reactome: R-HSA-114608;
name: Selenoprotein P (SeP)
length: 381
go: ENSG00000250722;
snps: rs28919895 rs3877899 rs28919923 rs28919925 rs28919926
sequence:

opentargets:
extracellular exosome [GO:0070062]; extracellular region [GO:0005576]; extracellular space [GO:0005615]; platelet dense granule lumen [GO:0031089]; selenium binding [GO:0008430]; brain development [GO:0007420]; locomotory behavior [GO:0007626]; platelet degranulation [GO:0002576]; post-embryonic development [GO:0009791]; regulation of growth [GO:0040008]; response to oxidative stress [GO:0006979]; response to selenium ion [GO:0010269]; selenium compound metabolic process [GO:0001887]; sexual reproduction [GO:0019953]

location:
SUBCELLULAR LOCATION: Secreted {ECO:0000269|PubMed:8142465}. Note=Passes from plasma into the glomerular filtrate where it is removed by endocytosis mediated by LRP2 in the proximal tubule epithelium. {ECO:0000250|UniProtKB:P70274}.


uniprotID: Q9Y617
geneSymbol: PSAT1
reactome: R-HSA-977347;
pdb: 3E77;
name: Phosphoserine aminotransferase (EC 2.6.1.52) (Phosphohydroxythreonine aminotransferase) (PSAT)
length: 370
go: ENSG00000135069;
drug: DB00142;DB00114;
snps: rs11540974 rs587777778 rs118203967 rs587777777
sequence:

opentargets:
cytosol [GO:0005829]; extracellular exosome [GO:0070062]; O-phospho-L-serine:2-oxoglutarate aminotransferase activity [GO:0004648]; L-serine biosynthetic process [GO:0006564]; pyridoxine biosynthetic process [GO:0008615]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; Synonyms=Alpha; IsoId=Q9Y617-1; Sequence=Displayed; Name=2; Synonyms=Beta; IsoId=Q9Y617-2; Sequence=VSP_000237; 


uniprotID: P58004
geneSymbol: SESN2
reactome: R-HSA-5628897;
pdb: 5CUF;5DJ4;5T0N;
name: Sestrin-2 (EC 1.11.1.15) (Hypoxia-induced gene)
length: 480
go: ENSG00000130766;
snps: rs2274848
location: SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:15105503}.
sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; mitochondrion [GO:0005739]; nucleotide-activated protein kinase complex [GO:0031588]; nucleus [GO:0005634]; TORC2 complex [GO:0031932]; GDP-dissociation inhibitor activity [GO:0005092]; leucine binding [GO:0070728]; oxidoreductase activity, acting on peroxide as acceptor [GO:0016684]; sulfiredoxin activity [GO:0032542]; cellular oxidant detoxification [GO:0098869]; cellular response to amino acid starvation [GO:0034198]; cellular response to amino acid stimulus [GO:0071230]; cellular response to glucose starvation [GO:0042149]; cellular response to leucine [GO:0071233]; cellular response to leucine starvation [GO:1990253]; cellular response to oxidative stress [GO:0034599]; DNA damage response, signal transduction by p53 class mediator [GO:0030330]; fatty acid beta-oxidation [GO:0006635]; glucose homeostasis [GO:0042593]; glucose import [GO:0046323]; mitochondrial DNA metabolic process [GO:0032042]; negative regulation of cell growth [GO:0030308]; negative regulation of TORC1 signaling [GO:1904262]; negative regulation of translation in response to endoplasmic reticulum stress [GO:1902010]; positive regulation of lipophagy [GO:1904504]; positive regulation of macroautophagy [GO:0016239]; positive regulation of protein localization to nucleus [GO:1900182]; positive regulation of transcription from RNA polymerase II promoter in response to oxidative stress [GO:0036091]; protein kinase B signaling [GO:0043491]; reactive oxygen species metabolic process [GO:0072593]; regulation of cAMP-dependent protein kinase activity [GO:2000479]; regulation of gluconeogenesis [GO:0006111]; regulation of protein phosphorylation [GO:0001932]; regulation of response to reactive oxygen species [GO:1901031]; response to glucose [GO:0009749]; response to insulin [GO:0032868]; triglyceride homeostasis [GO:0070328]


uniprotID: P58005
geneSymbol: SESN3
reactome: R-HSA-5628897;
name: Sestrin-3
length: 492
go: ENSG00000149212;
snps: rs10160385 rs11021069
location: SUBCELLULAR LOCATION: Cytoplasm {ECO:0000305|PubMed:25263562}.
sequence:

opentargets:
cytoplasm [GO:0005737]; nucleus [GO:0005634]; TORC2 complex [GO:0031932]; leucine binding [GO:0070728]; oxidoreductase activity, acting on peroxide as acceptor [GO:0016684]; cellular response to amino acid starvation [GO:0034198]; cellular response to amino acid stimulus [GO:0071230]; cellular response to glucose starvation [GO:0042149]; cellular response to leucine [GO:0071233]; cellular response to leucine starvation [GO:1990253]; glucose homeostasis [GO:0042593]; negative regulation of TORC1 signaling [GO:1904262]; positive regulation of macroautophagy [GO:0016239]; regulation of insulin receptor signaling pathway [GO:0046626]; regulation of protein kinase B signaling [GO:0051896]; regulation of response to reactive oxygen species [GO:1901031]; response to insulin [GO:0032868]; TORC2 signaling [GO:0038203]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=P58005-1; Sequence=Displayed; Name=3; IsoId=P58005-3; Sequence=VSP_006063, VSP_006064; Note=No experimental confirmation available.; Name=2; IsoId=P58005-4; Sequence=VSP_054563, VSP_054564; Note=No experimental confirmation available.; 


uniprotID: Q8N4B1
geneSymbol: PHETA1
pdb: 3QIS;
length: 249
go: ENSG00000198324;
name:
Sesquipedalian-1 (Ses1) (27 kDa inositol polyphosphate phosphatase-interacting protein A) (IPIP27A) (PH domain-containing endocytic trafficking adaptor 1)

sequence:

opentargets:
clathrin-coated vesicle [GO:0030136]; cytosol [GO:0005829]; early endosome [GO:0005769]; recycling endosome [GO:0055037]; trans-Golgi network [GO:0005802]; protein homodimerization activity [GO:0042803]; endosome organization [GO:0007032]; receptor recycling [GO:0001881]; retrograde transport, endosome to Golgi [GO:0042147]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=Q8N4B1-1; Sequence=Displayed; Name=2; IsoId=Q8N4B1-2; Sequence=VSP_021239, VSP_021240; Note=No experimental confirmation available.; Name=3; IsoId=Q8N4B1-3; Sequence=VSP_021241, VSP_021242; Note=No experimental confirmation available.; Name=4; IsoId=Q8N4B1-4; Sequence=VSP_044836; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Early endosome {ECO:0000269|PubMed:21233288}. Recycling endosome {ECO:0000269|PubMed:21233288}. Golgi apparatus, trans-Golgi network {ECO:0000269|PubMed:21233288}. Cytoplasmic vesicle, clathrin-coated vesicle {ECO:0000269|PubMed:21233288}. Note=Interaction with OCRL may be crucial for targeting to endosome and to the trans-Golgi network. Also found on macropinosomes. Not detected in late endosomes, nor in lysosomes. {ECO:0000269|PubMed:20133602, ECO:0000269|PubMed:21233288}.


uniprotID: Q9Y6X1
geneSymbol: SERP1
reactome: R-HSA-381038;
name: Stress-associated endoplasmic reticulum protein 1 (Ribosome-attached membrane protein 4)
sequence: MVAKQRIRMANEKHSKNITQRGNVAKTSRNAPEEKASVGPWLLALFIFVVCGSAIFQIIQSIRMGM
length: 66
go: ENSG00000120742;
opentargets:
cytoplasmic microtubule [GO:0005881]; cytosol [GO:0005829]; endoplasmic reticulum [GO:0005783]; endoplasmic reticulum membrane [GO:0005789]; integral component of membrane [GO:0016021]; ribosome [GO:0005840]; cellular protein modification process [GO:0006464]; endoplasmic reticulum unfolded protein response [GO:0030968]; glucose metabolic process [GO:0006006]; IRE1-mediated unfolded protein response [GO:0036498]; multicellular organism aging [GO:0010259]; muscle organ morphogenesis [GO:0048644]; plasma membrane organization [GO:0007009]; positive regulation of growth hormone secretion [GO:0060124]; positive regulation of insulin secretion [GO:0032024]; positive regulation of organ growth [GO:0046622]; positive regulation of translation [GO:0045727]; post-embryonic development [GO:0009791]; protein glycosylation [GO:0006486]; protein transport [GO:0015031]; skeletal system development [GO:0001501]

location:
SUBCELLULAR LOCATION: Membrane; Single-pass type IV membrane protein. Endoplasmic reticulum membrane {ECO:0000250}; Single-pass membrane protein {ECO:0000250}; Cytoplasmic side {ECO:0000250}.


uniprotID: O15047
geneSymbol: SETD1A
reactome: R-HSA-3214841;R-HSA-8936459;
pdb: 3S8S;3UVN;4EWR;
length: 1707
go: ENSG00000099381;
snps: rs897985
name:
Histone-lysine N-methyltransferase SETD1A (EC 2.1.1.43) (Lysine N-methyltransferase 2F) (SET domain-containing protein 1A) (hSET1A) (Set1/Ash2 histone methyltransferase complex subunit SET1)

sequence:

opentargets:
histone methyltransferase complex [GO:0035097]; nuclear chromatin [GO:0000790]; nuclear speck [GO:0016607]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; Set1C/COMPASS complex [GO:0048188]; beta-catenin binding [GO:0008013]; histone methyltransferase activity (H3-K4 specific) [GO:0042800]; histone-lysine N-methyltransferase activity [GO:0018024]; RNA binding [GO:0003723]; transcription factor binding [GO:0008134]; regulation of chromatin organization [GO:1902275]; regulation of hematopoietic stem cell differentiation [GO:1902036]; regulation of megakaryocyte differentiation [GO:0045652]

location:
SUBCELLULAR LOCATION: Nucleus speckle {ECO:0000269|PubMed:17355966}. Chromosome {ECO:0000269|PubMed:17355966}. Note=Localizes to a largely non-overlapping set of euchromatic nuclear speckles with SETD1B, suggesting that SETD1A and SETD1B each bind to a unique set of target genes.


uniprotID: Q96T68
geneSymbol: SETDB2
reactome: R-HSA-3214841;
pdb: 5TFP;
length: 719
go: ENSG00000136169;
snps: rs7998427 rs2057413
name:
Histone-lysine N-methyltransferase SETDB2 (EC 2.1.1.43) (Chronic lymphocytic leukemia deletion region gene 8 protein) (Lysine N-methyltransferase 1F) (SET domain bifurcated 2)

sequence:

opentargets:
chromosome [GO:0005694]; cytosol [GO:0005829]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; DNA binding [GO:0003677]; histone methyltransferase activity (H3-K9 specific) [GO:0046974]; histone-lysine N-methyltransferase activity [GO:0018024]; zinc ion binding [GO:0008270]; cell division [GO:0051301]; chromosome segregation [GO:0007059]; heart looping [GO:0001947]; histone H3-K9 methylation [GO:0051567]; left/right axis specification [GO:0070986]; mitotic cell cycle [GO:0000278]; negative regulation of transcription, DNA-templated [GO:0045892]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q96T68-1; Sequence=Displayed; Name=2; IsoId=Q96T68-2; Sequence=VSP_008413; Note=No experimental confirmation available.; Name=3; IsoId=Q96T68-3; Sequence=VSP_024034; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:20404330}. Chromosome {ECO:0000305|PubMed:20404330}.


uniprotID: Q8NE22
geneSymbol: SETD9
reactome: R-HSA-6804760;
name: SET domain-containing protein 9 (EC 2.1.1.-)
length: 299
go: ENSG00000155542;
snps: rs2257505 rs40497
sequence:

opentargets:
nucleoplasm [GO:0005654]; lysine N-methyltransferase activity [GO:0016278]; regulation of signal transduction by p53 class mediator [GO:1901796]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q8NE22-1; Sequence=Displayed; Name=2; IsoId=Q8NE22-2; Sequence=VSP_043790, VSP_043791; Note=No experimental confirmation available.; 


uniprotID: Q53H47
geneSymbol: SETMAR
pdb: 3BO5;3F2K;3K9J;3K9K;
length: 684
go: ENSG00000170364;
name:
Histone-lysine N-methyltransferase SETMAR (SET domain and mariner transposase fusion protein) (Metnase) [Includes: Histone-lysine N-methyltransferase (EC 2.1.1.43); Transposon Hsmar1 transposase (EC 3.1.-.-)]

sequence:

opentargets:
nucleolus [GO:0005730]; nucleus [GO:0005634]; site of double-strand break [GO:0035861]; DNA binding [GO:0003677]; DNA topoisomerase binding [GO:0044547]; double-stranded DNA binding [GO:0003690]; endonuclease activity [GO:0004519]; histone methyltransferase activity (H3-K36 specific) [GO:0046975]; histone methyltransferase activity (H3-K4 specific) [GO:0042800]; protein homodimerization activity [GO:0042803]; single-stranded DNA binding [GO:0003697]; single-stranded DNA endodeoxyribonuclease activity [GO:0000014]; zinc ion binding [GO:0008270]; cell proliferation [GO:0008283]; DNA catabolic process, endonucleolytic [GO:0000737]; DNA double-strand break processing [GO:0000729]; DNA integration [GO:0015074]; double-strand break repair via nonhomologous end joining [GO:0006303]; histone H3-K36 dimethylation [GO:0097676]; histone H3-K36 methylation [GO:0010452]; histone H3-K4 methylation [GO:0051568]; mitotic DNA integrity checkpoint [GO:0044774]; negative regulation of cell cycle arrest [GO:0071157]; negative regulation of chromosome organization [GO:2001251]; nucleic acid phosphodiester bond hydrolysis [GO:0090305]; positive regulation of DNA topoisomerase (ATP-hydrolyzing) activity [GO:2000373]; positive regulation of double-strand break repair via nonhomologous end joining [GO:2001034]; replication fork processing [GO:0031297]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q53H47-1; Sequence=Displayed; Name=2; IsoId=Q53H47-2; Sequence=VSP_021440, VSP_021441; Note=No experimental confirmation available.; Name=3; IsoId=Q53H47-3; Sequence=VSP_054089; 

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:18263876}. Chromosome {ECO:0000269|PubMed:18790802, ECO:0000269|PubMed:22231448}. Note=Recruited on damaged DNA at sites of double-strand breaks. {ECO:0000269|PubMed:18263876}.


uniprotID: Q7Z333
geneSymbol: SETX
length: 2677
go: ENSG00000107290;
name:
Probable helicase senataxin (EC 3.6.4.-) (Amyotrophic lateral sclerosis 4 protein) (SEN1 homolog) (Senataxin)

sequence:

opentargets:
axon [GO:0030424]; chromosome, telomeric region [GO:0000781]; cytoplasm [GO:0005737]; growth cone [GO:0030426]; intercellular bridge [GO:0045171]; nuclear body [GO:0016604]; nuclear chromosome [GO:0000228]; nucleolus [GO:0005730]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; ATP binding [GO:0005524]; DNA binding [GO:0003677]; DNA helicase activity [GO:0003678]; identical protein binding [GO:0042802]; transcription termination site sequence-specific DNA binding [GO:0001147]; cellular response to DNA damage stimulus [GO:0006974]; cellular response to fibroblast growth factor stimulus [GO:0044344]; cellular response to hydrogen peroxide [GO:0070301]; cellular response to oxidative stress [GO:0034599]; cellular response to retinoic acid [GO:0071300]; circadian rhythm [GO:0007623]; DNA recombination [GO:0006310]; DNA-templated transcription, termination [GO:0006353]; double-strand break repair [GO:0006302]; fibroblast growth factor receptor signaling pathway [GO:0008543]; MAPK cascade [GO:0000165]; mRNA splice site selection [GO:0006376]; negative regulation of apoptotic process [GO:0043066]; positive regulation of DNA-templated transcription, initiation [GO:2000144]; positive regulation of DNA-templated transcription, termination [GO:0060566]; positive regulation of neuron projection development [GO:0010976]; positive regulation of RNA splicing [GO:0033120]; positive regulation of termination of RNA polymerase II transcription, poly(A)-coupled [GO:2000806]; positive regulation of transcription by RNA polymerase II [GO:0045944]; protein kinase B signaling [GO:0043491]; RNA processing [GO:0006396]; spermatogenesis [GO:0007283]; termination of RNA polymerase II transcription [GO:0006369]

snps:
rs28941475 rs997473183 rs753713810 rs29001665 rs29001584 rs116205032 rs116333061 rs882709 rs61742937 rs12352982 rs3739922 rs1185193 rs12344006 rs1183768 rs267607044 rs11243731 rs543573 rs112089123 rs762175796 rs2296871 rs2296871 rs121434379 rs746525639 rs121434378 rs28940290 rs1471824334 rs151117904 rs1056899 rs3739927 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q7Z333-1; Sequence=Displayed; Name=3; IsoId=Q7Z333-3; Sequence=VSP_017124; Note=No experimental confirmation available.; Name=4; IsoId=Q7Z333-4; Sequence=VSP_028826; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:17562789, ECO:0000269|PubMed:21576111, ECO:0000269|PubMed:24105744}. Nucleus, nucleoplasm {ECO:0000269|PubMed:17562789}. Nucleus, nucleolus {ECO:0000269|PubMed:17562789}. Cytoplasm {ECO:0000269|PubMed:17562789, ECO:0000269|PubMed:21576111}. Chromosome {ECO:0000269|PubMed:23149945}. Chromosome, telomere {ECO:0000269|PubMed:21112256}. Cell projection, axon {ECO:0000269|PubMed:21576111}. Cell projection, growth cone {ECO:0000269|PubMed:21576111}. Note=May be detected in the nucleolus only in cycling cells. At pachytene stage, colocalizes predominantly to the heterochromatic XY-body of sex chromosomes with DNA damage response proteins in a BRCA1-dependent manner (By similarity). Localizes with telomeric DNA in a transcription-dependent manner (PubMed:21112256). Under replication stress, colocalizes with a variety of DNA damage signaling and repair response proteins at distinct nuclear foci in mitotic S/G2- and G1-phase cells in a transcription- and RNA/DNA hybrid-dependent manner (PubMed:23149945). Localizes at limited number of nuclear foci (PubMed:24105744). Colocalizes with EXOSC9 in nuclear foci upon induction of transcription-related DNA damage at the S phase (PubMed:24105744). Most abundant in the nucleus. Detected in granules. Colocalized in cycling cells with FBL in the nucleolus. {ECO:0000250|UniProtKB:A2AKX3, ECO:0000269|PubMed:17562789, ECO:0000269|PubMed:21112256, ECO:0000269|PubMed:21576111, ECO:0000269|PubMed:23149945, ECO:0000269|PubMed:24105744}.


uniprotID: Q01105
geneSymbol: SET
reactome: R-HSA-2299718;R-HSA-450520;
pdb: 2E50;
length: 290
go: ENSG00000119335;
snps: rs1141138
name:
Protein SET (HLA-DR-associated protein II) (Inhibitor of granzyme A-activated DNase) (IGAAD) (PHAPII) (Phosphatase 2A inhibitor I2PP2A) (I-2PP2A) (Template-activating factor I) (TAF-I)

sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; endoplasmic reticulum [GO:0005783]; lipid droplet [GO:0005811]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; perinuclear region of cytoplasm [GO:0048471]; protein-containing complex [GO:0032991]; DNA binding [GO:0003677]; histone binding [GO:0042393]; protein phosphatase inhibitor activity [GO:0004864]; protein phosphatase regulator activity [GO:0019888]; DNA replication [GO:0006260]; negative regulation of histone acetylation [GO:0035067]; negative regulation of neuron apoptotic process [GO:0043524]; negative regulation of transcription, DNA-templated [GO:0045892]; nucleosome assembly [GO:0006334]; nucleosome disassembly [GO:0006337]; regulation of mRNA stability [GO:0043488]; viral process [GO:0016032]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; Synonyms=TAF-I alpha; IsoId=Q01105-1; Sequence=Displayed; Name=2; Synonyms=TAF-I beta; IsoId=Q01105-2; Sequence=VSP_009868; Name=3; IsoId=Q01105-3; Sequence=VSP_045175; Name=4; IsoId=Q01105-4; Sequence=VSP_046741; Note=Gene prediction based on EST data.; 

location:
SUBCELLULAR LOCATION: Cytoplasm, cytosol. Endoplasmic reticulum. Nucleus, nucleoplasm. Note=In the cytoplasm, found both in the cytosol and associated with the endoplasmic reticulum. The SET complex is associated with the endoplasmic reticulum. Following CTL attack and cleavage by GZMA, moves rapidly to the nucleus, where it is found in the nucleoplasm, avoiding the nucleolus. Similar translocation to the nucleus is also observed for lymphocyte-activated killer cells after the addition of calcium.


uniprotID: Q92777
geneSymbol: SYN2
reactome: R-HSA-181429;R-HSA-212676;
name: Synapsin-2 (Synapsin II)
length: 582
go: ENSG00000157152;
snps: rs794999
location: SUBCELLULAR LOCATION: Cell junction, synapse.
sequence:

opentargets:
cell junction [GO:0030054]; glutamatergic synapse [GO:0098978]; myelin sheath [GO:0043209]; plasma membrane [GO:0005886]; postsynaptic density [GO:0014069]; Schaffer collateral - CA1 synapse [GO:0098685]; SNARE complex [GO:0031201]; synapse [GO:0045202]; synaptic vesicle membrane [GO:0030672]; ATP binding [GO:0005524]; chemical synaptic transmission [GO:0007268]; neurotransmitter secretion [GO:0007269]; synaptic vesicle clustering [GO:0097091]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=IIa; IsoId=Q92777-1; Sequence=Displayed; Name=IIb; IsoId=Q92777-2; Sequence=VSP_006320, VSP_006321; 


uniprotID: O14994
geneSymbol: SYN3
reactome: R-HSA-181429;R-HSA-212676;
pdb: 2P0A;
name: Synapsin-3 (Synapsin III)
length: 580
go: ENSG00000185666;
snps: rs5998526
sequence:

opentargets:
cell junction [GO:0030054]; glutamatergic synapse [GO:0098978]; postsynaptic density [GO:0014069]; synaptic vesicle [GO:0008021]; synaptic vesicle membrane [GO:0030672]; ATP binding [GO:0005524]; neurotransmitter secretion [GO:0007269]; regulation of synaptic transmission, GABAergic [GO:0032228]; synaptic vesicle clustering [GO:0097091]

location:
SUBCELLULAR LOCATION: Cytoplasmic vesicle, secretory vesicle, synaptic vesicle membrane; Peripheral membrane protein; Cytoplasmic side. Note=Peripheral membrane protein localized to the cytoplasmic surface of synaptic vesicles.


uniprotID: Q15637
geneSymbol: SF1
reactome: R-HSA-72163;
pdb: 1K1G;1O0P;1OPI;2M09;2M0G;4FXW;4FXX;
length: 639
go: ENSG00000168066;
location: SUBCELLULAR LOCATION: Nucleus.
name:
Splicing factor 1 (Mammalian branch point-binding protein) (BBP) (mBBP) (Transcription factor ZFM1) (Zinc finger gene in MEN1 locus) (Zinc finger protein 162)

sequence:

opentargets:
nuclear body [GO:0016604]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; ribosome [GO:0005840]; spliceosomal complex [GO:0005681]; identical protein binding [GO:0042802]; pre-mRNA branch point binding [GO:0045131]; RNA binding [GO:0003723]; transcription corepressor activity [GO:0003714]; zinc ion binding [GO:0008270]; Leydig cell differentiation [GO:0033327]; male sex determination [GO:0030238]; mRNA 3'-splice site recognition [GO:0000389]; mRNA splicing, via spliceosome [GO:0000398]; negative regulation of smooth muscle cell proliferation [GO:0048662]; nuclear body organization [GO:0030575]; regulation of steroid biosynthetic process [GO:0050810]; spliceosomal complex assembly [GO:0000245]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=7;  Comment=Additional isoforms seem to exist.; Name=1; Synonyms=SF1-HL1; IsoId=Q15637-1; Sequence=Displayed; Name=2; Synonyms=SF1-Bo, Bone; IsoId=Q15637-2; Sequence=VSP_008839; Name=3; Synonyms=ZFM1-A, ZFM1-ABCDEF; IsoId=Q15637-3; Sequence=VSP_008838; Name=4; Synonyms=ZFM1-B, ZFM1-ABCDF; IsoId=Q15637-4; Sequence=VSP_008835, VSP_008836; Name=5; IsoId=Q15637-5; Sequence=VSP_008833, VSP_008835, VSP_008836; Note=No experimental confirmation available.; Name=6; Synonyms=ZFM1-D, B6; IsoId=Q15637-6; Sequence=VSP_008834, VSP_008837; Name=7; IsoId=Q15637-7; Sequence=VSP_045274; Note=No experimental confirmation available.; 


uniprotID: O43776
geneSymbol: NARS
reactome: R-HSA-379716;
pdb: 4ZYA;5XIX;
name: Asparagine--tRNA ligase, cytoplasmic (EC 6.1.1.22) (Asparaginyl-tRNA synthetase) (AsnRS)
length: 548
go: ENSG00000134440;
drug: DB00174;
location: SUBCELLULAR LOCATION: Cytoplasm.
sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; extracellular exosome [GO:0070062]; asparagine-tRNA ligase activity [GO:0004816]; ATP binding [GO:0005524]; nucleic acid binding [GO:0003676]; asparaginyl-tRNA aminoacylation [GO:0006421]; tRNA aminoacylation for protein translation [GO:0006418]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=O43776-1; Sequence=Displayed; Name=2; IsoId=O43776-2; Sequence=VSP_056201, VSP_056202; Note=No experimental confirmation available.; 


uniprotID: O15056
geneSymbol: SYNJ2
reactome: R-HSA-1660499;R-HSA-8856828;
pdb: 1UFW;
name: Synaptojanin-2 (EC 3.1.3.36) (Synaptic inositol 1,4,5-trisphosphate 5-phosphatase 2)
length: 1496
go: ENSG00000078269;
snps: rs2502601
sequence:

opentargets:
axon terminus [GO:0043679]; cytoplasmic microtubule [GO:0005881]; cytosol [GO:0005829]; extrinsic component of mitochondrial outer membrane [GO:0031315]; membrane raft [GO:0045121]; perinuclear region of cytoplasm [GO:0048471]; ruffle membrane [GO:0032587]; inositol-polyphosphate 5-phosphatase activity [GO:0004445]; phosphatidylinositol phosphate 4-phosphatase activity [GO:0034596]; phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity [GO:0052629]; phosphatidylinositol-3,5-bisphosphate 5-phosphatase activity [GO:0043813]; phosphatidylinositol-3-phosphatase activity [GO:0004438]; phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity [GO:0004439]; phosphatidylinositol-4-phosphate phosphatase activity [GO:0043812]; RNA binding [GO:0003723]; SH3 domain binding [GO:0017124]; brain development [GO:0007420]; inositol phosphate dephosphorylation [GO:0046855]; membrane organization [GO:0061024]; phosphatidylinositol biosynthetic process [GO:0006661]; phosphatidylinositol dephosphorylation [GO:0046856]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Comment=Additional isoforms seem to exist.; Name=2B2; IsoId=O15056-1; Sequence=Displayed; Name=2B1; IsoId=O15056-2; Sequence=VSP_012911; Note=No experimental confirmation available.; Name=2A; IsoId=O15056-3; Sequence=VSP_012912, VSP_012913; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:11084340}. Cell membrane {ECO:0000269|PubMed:11084340}. Membrane raft {ECO:0000269|PubMed:11084340}. Cell projection, axon {ECO:0000250|UniProtKB:O55207}. Cytoplasm, cytoskeleton {ECO:0000250|UniProtKB:O55207}. Note=Localizes at nerve terminals in brain and at bundles of microtubules surrounding the nucleus in the elongating spermatids corresponding to the manchette (By similarity). Translocates from the cytoplasm to membrane ruffles in a RAC1-dependent manner (PubMed:11084340). {ECO:0000269|PubMed:11084340}.


uniprotID: Q96HF1
geneSymbol: SFRP2
reactome: R-HSA-201681;R-HSA-3772470;
length: 295
go: ENSG00000145423;
snps: rs4643790
location: SUBCELLULAR LOCATION: Secreted {ECO:0000250}.
name:
Secreted frizzled-related protein 2 (FRP-2) (sFRP-2) (Secreted apoptosis-related protein 1) (SARP-1)

sequence:

opentargets:
collagen-containing extracellular matrix [GO:0062023]; extracellular space [GO:0005615]; endopeptidase activator activity [GO:0061133]; fibronectin binding [GO:0001968]; integrin binding [GO:0005178]; receptor ligand activity [GO:0048018]; Wnt-protein binding [GO:0017147]; apoptotic process [GO:0006915]; bone morphogenesis [GO:0060349]; branching involved in blood vessel morphogenesis [GO:0001569]; canonical Wnt signaling pathway [GO:0060070]; cardiac left ventricle morphogenesis [GO:0003214]; cell-cell signaling [GO:0007267]; cellular response to extracellular stimulus [GO:0031668]; cellular response to X-ray [GO:0071481]; chondrocyte development [GO:0002063]; collagen fibril organization [GO:0030199]; convergent extension involved in axis elongation [GO:0060028]; digestive tract morphogenesis [GO:0048546]; embryonic digit morphogenesis [GO:0042733]; hematopoietic stem cell proliferation [GO:0071425]; male gonad development [GO:0008584]; negative regulation of BMP signaling pathway [GO:0030514]; negative regulation of canonical Wnt signaling pathway [GO:0090090]; negative regulation of cardiac muscle cell apoptotic process [GO:0010667]; negative regulation of cell growth [GO:0030308]; negative regulation of cell migration [GO:0030336]; negative regulation of cell proliferation [GO:0008285]; negative regulation of cysteine-type endopeptidase activity involved in apoptotic process [GO:0043154]; negative regulation of dermatome development [GO:0061185]; negative regulation of epithelial cell proliferation [GO:0050680]; negative regulation of epithelial to mesenchymal transition [GO:0010719]; negative regulation of extrinsic apoptotic signaling pathway via death domain receptors [GO:1902042]; negative regulation of gene expression [GO:0010629]; negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage [GO:1902230]; negative regulation of JUN kinase activity [GO:0043508]; negative regulation of mesodermal cell fate specification [GO:0042662]; negative regulation of peptidyl-tyrosine phosphorylation [GO:0050732]; negative regulation of planar cell polarity pathway involved in axis elongation [GO:2000041]; negative regulation of transcription, DNA-templated [GO:0045892]; negative regulation of Wnt signaling pathway [GO:0030178]; non-canonical Wnt signaling pathway [GO:0035567]; outflow tract morphogenesis [GO:0003151]; planar cell polarity pathway involved in neural tube closure [GO:0090179]; positive regulation of angiogenesis [GO:0045766]; positive regulation of apoptotic process [GO:0043065]; positive regulation of canonical Wnt signaling pathway [GO:0090263]; positive regulation of cell adhesion mediated by integrin [GO:0033630]; positive regulation of cell growth [GO:0030307]; positive regulation of cell proliferation [GO:0008284]; positive regulation of fat cell differentiation [GO:0045600]; positive regulation of osteoblast differentiation [GO:0045669]; positive regulation of peptidyl-serine phosphorylation [GO:0033138]; positive regulation of transcription by RNA polymerase II [GO:0045944]; post-anal tail morphogenesis [GO:0036342]; regulation of midbrain dopaminergic neuron differentiation [GO:1904956]; regulation of neuron projection development [GO:0010975]; regulation of stem cell division [GO:2000035]; response to drug [GO:0042493]; response to nutrient [GO:0007584]; sclerotome development [GO:0061056]; Wnt signaling pathway involved in somitogenesis [GO:0090244]


uniprotID: Q8TBG9
geneSymbol: SYNPR
name: Synaptoporin
length: 265
go: ENSG00000163630;
sequence:

opentargets:
cell junction [GO:0030054]; integral component of synaptic vesicle membrane [GO:0030285]; neuron projection [GO:0043005]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q8TBG9-1; Sequence=Displayed; Name=2; IsoId=Q8TBG9-2; Sequence=VSP_046199; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasmic vesicle, secretory vesicle, synaptic vesicle membrane {ECO:0000250}; Multi-pass membrane protein {ECO:0000250}. Cell junction, synapse, synaptosome {ECO:0000250}.


uniprotID: Q9UMZ2
geneSymbol: SYNRG
pdb: 2MX7;
name: Synergin gamma (AP1 subunit gamma-binding protein 1) (Gamma-synergin)
length: 1314
go: ENSG00000275066;
snps: rs12944821 rs12602536
sequence:

opentargets:
AP-1 adaptor complex [GO:0030121]; cytoplasm [GO:0005737]; Golgi apparatus [GO:0005794]; endocytosis [GO:0006897]; intracellular protein transport [GO:0006886]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=8;  Name=1; IsoId=Q9UMZ2-1; Sequence=Displayed; Name=2; IsoId=Q9UMZ2-3; Sequence=VSP_023015; Name=3; IsoId=Q9UMZ2-4; Sequence=VSP_023015, VSP_023016; Name=4; IsoId=Q9UMZ2-5; Sequence=VSP_023016; Note=No experimental confirmation available.; Name=5; IsoId=Q9UMZ2-6; Sequence=VSP_023015, VSP_043281, VSP_043282; Note=No experimental confirmation available.; Name=6; IsoId=Q9UMZ2-7; Sequence=VSP_023015, VSP_054733; Note=Gene prediction based on EST data.; Name=7; IsoId=Q9UMZ2-8; Sequence=VSP_054732, VSP_023015; Note=No experimental confirmation available.; Name=8; IsoId=Q9UMZ2-9; Sequence=VSP_023015, VSP_043282, VSP_023016; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250}. Golgi apparatus, trans-Golgi network membrane {ECO:0000250}; Peripheral membrane protein {ECO:0000250}. Note=Associates with membranes via the adapter protein complex AP-1. Colocalizes with AP1G1 (By similarity). {ECO:0000250}.


uniprotID: Q86XK3
geneSymbol: SFR1
name: Swi5-dependent recombination DNA repair protein 1 homolog (Meiosis protein 5 homolog)
length: 245
go: ENSG00000156384;
snps: rs10786783
sequence:

opentargets:
nucleus [GO:0005634]; Swi5-Sfr1 complex [GO:0032798]; nuclear receptor transcription coactivator activity [GO:0030374]; cellular response to estrogen stimulus [GO:0071391]; double-strand break repair via homologous recombination [GO:0000724]; positive regulation of transcription, DNA-templated [GO:0045893]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q86XK3-1; Sequence=Displayed; Note=Gene prediction based on EST data.; Name=2; IsoId=Q86XK3-2; Sequence=VSP_040038; Name=3; IsoId=Q86XK3-3; Sequence=VSP_040037; 

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:23874500}. Note=Colocalizes with ESR1 in the nucleus. {ECO:0000269|PubMed:23874500}.


uniprotID: Q8N474
geneSymbol: SFRP1
reactome: R-HSA-201681;R-HSA-3772470;
length: 314
go: ENSG00000104332;
name:
Secreted frizzled-related protein 1 (FRP-1) (sFRP-1) (Secreted apoptosis-related protein 2) (SARP-2)

sequence:

opentargets:
cell surface [GO:0009986]; collagen-containing extracellular matrix [GO:0062023]; cytosol [GO:0005829]; extracellular exosome [GO:0070062]; extracellular region [GO:0005576]; extracellular space [GO:0005615]; intracellular [GO:0005622]; plasma membrane [GO:0005886]; cysteine-type endopeptidase activity [GO:0004197]; drug binding [GO:0008144]; frizzled binding [GO:0005109]; heparin binding [GO:0008201]; identical protein binding [GO:0042802]; Wnt-protein binding [GO:0017147]; bone trabecula formation [GO:0060346]; canonical Wnt signaling pathway [GO:0060070]; cellular response to BMP stimulus [GO:0071773]; cellular response to estradiol stimulus [GO:0071392]; cellular response to estrogen stimulus [GO:0071391]; cellular response to fibroblast growth factor stimulus [GO:0044344]; cellular response to growth factor stimulus [GO:0071363]; cellular response to heparin [GO:0071504]; cellular response to hypoxia [GO:0071456]; cellular response to interleukin-1 [GO:0071347]; cellular response to prostaglandin E stimulus [GO:0071380]; cellular response to starvation [GO:0009267]; cellular response to transforming growth factor beta stimulus [GO:0071560]; cellular response to tumor necrosis factor [GO:0071356]; cellular response to vitamin D [GO:0071305]; cellular response to X-ray [GO:0071481]; convergent extension involved in somitogenesis [GO:0090246]; digestive tract morphogenesis [GO:0048546]; dopaminergic neuron differentiation [GO:0071542]; dorsal/ventral axis specification [GO:0009950]; female gonad development [GO:0008585]; hematopoietic progenitor cell differentiation [GO:0002244]; hematopoietic stem cell differentiation [GO:0060218]; male gonad development [GO:0008584]; negative regulation of androgen receptor signaling pathway [GO:0060766]; negative regulation of apoptotic process [GO:0043066]; negative regulation of B cell differentiation [GO:0045578]; negative regulation of BMP signaling pathway [GO:0030514]; negative regulation of bone remodeling [GO:0046851]; negative regulation of canonical Wnt signaling pathway [GO:0090090]; negative regulation of canonical Wnt signaling pathway involved in controlling type B pancreatic cell proliferation [GO:2000080]; negative regulation of cell growth [GO:0030308]; negative regulation of cell migration [GO:0030336]; negative regulation of cell proliferation [GO:0008285]; negative regulation of epithelial cell proliferation [GO:0050680]; negative regulation of epithelial to mesenchymal transition [GO:0010719]; negative regulation of fibroblast apoptotic process [GO:2000270]; negative regulation of fibroblast proliferation [GO:0048147]; negative regulation of gene expression [GO:0010629]; negative regulation of insulin secretion [GO:0046676]; negative regulation of JUN kinase activity [GO:0043508]; negative regulation of ossification [GO:0030279]; negative regulation of osteoblast differentiation [GO:0045668]; negative regulation of osteoblast proliferation [GO:0033689]; negative regulation of osteoclast differentiation [GO:0045671]; negative regulation of peptidyl-tyrosine phosphorylation [GO:0050732]; negative regulation of planar cell polarity pathway involved in axis elongation [GO:2000041]; negative regulation of transcription, DNA-templated [GO:0045892]; negative regulation of Wnt signaling pathway [GO:0030178]; negative regulation of Wnt signaling pathway involved in dorsal/ventral axis specification [GO:2000054]; neural crest cell fate commitment [GO:0014034]; non-canonical Wnt signaling pathway [GO:0035567]; osteoblast differentiation [GO:0001649]; planar cell polarity pathway involved in neural tube closure [GO:0090179]; positive regulation of apoptotic process [GO:0043065]; positive regulation of canonical Wnt signaling pathway [GO:0090263]; positive regulation of cell growth [GO:0030307]; positive regulation of cell proliferation [GO:0008284]; positive regulation of cell-matrix adhesion [GO:0001954]; positive regulation of epithelial cell proliferation [GO:0050679]; positive regulation of extrinsic apoptotic signaling pathway via death domain receptors [GO:1902043]; positive regulation of fat cell differentiation [GO:0045600]; positive regulation of fibroblast apoptotic process [GO:2000271]; positive regulation of focal adhesion assembly [GO:0051894]; positive regulation of GTPase activity [GO:0043547]; positive regulation of non-canonical Wnt signaling pathway [GO:2000052]; positive regulation of smoothened signaling pathway [GO:0045880]; positive regulation of stress fiber assembly [GO:0051496]; positive regulation of transcription, DNA-templated [GO:0045893]; positive regulation of Wnt signaling pathway [GO:0030177]; prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis [GO:0060527]; regulation of angiogenesis [GO:0045765]; regulation of branching involved in prostate gland morphogenesis [GO:0060687]; regulation of cell cycle process [GO:0010564]; regulation of midbrain dopaminergic neuron differentiation [GO:1904956]; regulation of neuron projection development [GO:0010975]; response to drug [GO:0042493]; response to organic cyclic compound [GO:0014070]; somatic stem cell population maintenance [GO:0035019]; stromal-epithelial cell signaling involved in prostate gland development [GO:0044345]; ureteric bud development [GO:0001657]; Wnt signaling pathway involved in somitogenesis [GO:0090244]

location:
SUBCELLULAR LOCATION: Secreted. Note=Cell membrane or extracellular matrix-associated. Released by heparin-binding.


uniprotID: P35247
geneSymbol: SFTPD
name: Pulmonary surfactant-associated protein D (PSP-D) (SP-D) (Collectin-7) (Lung surfactant protein D)
length: 375
go: ENSG00000133661;
drug: DB02379;
snps: rs721917 rs17878336 rs2243639 rs3088308 rs4469829
reactome:
R-HSA-166016;R-HSA-168179;R-HSA-198933;R-HSA-391160;R-HSA-5683826;R-HSA-5686938;R-HSA-5687868;R-HSA-5688849;R-HSA-5688890;

pdb:
1B08;1M7L;1PW9;1PWB;2GGU;2GGX;2ORJ;2ORK;2OS9;2RIA;2RIB;2RIC;2RID;2RIE;3DBZ;3G81;3G83;3G84;3IKN;3IKP;3IKQ;3IKR;4E52;4M17;4M18;5OXR;5OXS;

sequence:

opentargets:
clathrin-coated endocytic vesicle [GO:0045334]; collagen trimer [GO:0005581]; endocytic vesicle [GO:0030139]; endoplasmic reticulum membrane [GO:0005789]; extracellular region [GO:0005576]; extracellular space [GO:0005615]; lysosome [GO:0005764]; multivesicular body [GO:0005771]; rough endoplasmic reticulum [GO:0005791]; carbohydrate binding [GO:0030246]; identical protein binding [GO:0042802]; lipopolysaccharide binding [GO:0001530]; monosaccharide binding [GO:0048029]; cellular protein metabolic process [GO:0044267]; defense response to bacterium [GO:0042742]; induction of bacterial agglutination [GO:0043152]; innate immune response [GO:0045087]; lung alveolus development [GO:0048286]; macrophage chemotaxis [GO:0048246]; negative regulation by host of symbiont molecular function [GO:0052405]; negative regulation of interleukin-2 biosynthetic process [GO:0045085]; negative regulation of T cell proliferation [GO:0042130]; positive regulation of phagocytosis [GO:0050766]; reactive oxygen species metabolic process [GO:0072593]; receptor-mediated endocytosis [GO:0006898]; regulation of adhesion of symbiont to host epithelial cell [GO:1905226]; regulation of cytokine production [GO:0001817]; regulation of immune response [GO:0050776]; respiratory gaseous exchange [GO:0007585]; surfactant homeostasis [GO:0043129]; toll-like receptor signaling pathway [GO:0002224]

location:
SUBCELLULAR LOCATION: Secreted, extracellular space, extracellular matrix. Secreted, extracellular space, surface film.


uniprotID: O75556
geneSymbol: SCGB2A1
name: Mammaglobin-B (Lacryglobin) (Lipophilin-C) (Mammaglobin-2) (Secretoglobin family 2A member 1)
sequence: MKLLMVLMLAALLLHCYADSGCKLLEDMVEKTINSDISIPEYKELLQEFIDSDAAAEAMGKFKQCFLNQSHRTLKNFGLMMHTVYDSIWCNMKSN
length: 95
go: ENSG00000124939;
location: SUBCELLULAR LOCATION: Secreted {ECO:0000305}.
opentargets:
extracellular space [GO:0005615]; protein heterodimerization activity [GO:0046982]; androgen receptor signaling pathway [GO:0030521]


uniprotID: Q96QR1
geneSymbol: SCGB3A1
length: 104
go: ENSG00000161055;
location: SUBCELLULAR LOCATION: Secreted {ECO:0000269|PubMed:11481438}.
name:
Secretoglobin family 3A member 1 (Cytokine HIN-1) (High in normal 1) (Pneumo secretory protein 2) (PnSP-2) (Uteroglobin-related protein 2)

sequence:
MKLAALLGLCVALSCSSAAAFLVGSAKPVAQPVAALESAAEAGAGTLANPLGTLNPLKLLLSSLGIPVNHLIEGSQKCVAELGPQAVGAVKALKALLGALTVFG

opentargets:
extracellular exosome [GO:0070062]; extracellular space [GO:0005615]; cytokine activity [GO:0005125]; negative regulation of cell growth [GO:0030308]; positive regulation of myoblast fusion [GO:1901741]; regulation of cell proliferation [GO:0042127]


uniprotID: Q9BWM7
geneSymbol: SFXN3
name: Sideroflexin-3
length: 321
go: ENSG00000107819;
sequence:

opentargets:
integral component of membrane [GO:0016021]; mitochondrial membrane [GO:0031966]; mitochondrion [GO:0005739]; ion transmembrane transporter activity [GO:0015075]; iron ion homeostasis [GO:0055072]

location:
SUBCELLULAR LOCATION: Mitochondrion membrane {ECO:0000269|Ref.4}; Multi-pass membrane protein {ECO:0000269|Ref.4}.


uniprotID: Q16586
geneSymbol: SGCA
length: 387
go: ENSG00000108823;
name:
Alpha-sarcoglycan (Alpha-SG) (50 kDa dystrophin-associated glycoprotein) (50DAG) (Adhalin) (Dystroglycan-2)

sequence:

opentargets:
cell-cell junction [GO:0005911]; cytoplasm [GO:0005737]; cytoskeleton [GO:0005856]; dystrophin-associated glycoprotein complex [GO:0016010]; integral component of membrane [GO:0016021]; membrane raft [GO:0045121]; sarcoglycan complex [GO:0016012]; sarcolemma [GO:0042383]; calcium ion binding [GO:0005509]; muscle contraction [GO:0006936]; muscle organ development [GO:0007517]; response to denervation involved in regulation of muscle adaptation [GO:0014894]; skeletal muscle tissue regeneration [GO:0043403]

snps:
rs886043256 rs903823830 rs758647756 rs371675217 rs757888349 rs28933693 rs138945081 rs137852621 rs768814872 rs397514451 rs372210292 rs143962150 rs137852622 rs752695991 rs757481230 rs1384158714 rs143570936 rs137852623 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=SGCA-1; IsoId=Q16586-1; Sequence=Displayed; Name=SGCA-2; IsoId=Q16586-2; Sequence=VSP_006017; 

location:
SUBCELLULAR LOCATION: Cell membrane, sarcolemma {ECO:0000250}; Single-pass type I membrane protein {ECO:0000250}. Cytoplasm, cytoskeleton {ECO:0000250}.


uniprotID: Q08648
geneSymbol: SPAG11B
length: 103
go: ENSG00000178287;
snps: rs2853658 rs2738035
location: SUBCELLULAR LOCATION: Secreted.
name:
Sperm-associated antigen 11B (Human epididymis-specific protein 2) (He2) (Protein EP2) (Sperm antigen HE2)

sequence:
MRQRLLPSVTSLLLVALLFPGSSQARHVNHSATEALGELRERAPGQGTNGFQLLRHAVKRDLLPPRTPPYQVHISHREARGPSFRICVDFLGPRWARGCSTGN

opentargets:
extracellular region [GO:0005576]; antimicrobial humoral immune response mediated by antimicrobial peptide [GO:0061844]; cytolysis in other organism [GO:0051715]; defense response to bacterium [GO:0042742]; spermatogenesis [GO:0007283]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=6;  Comment=Exon 6 is read in two different reading frames, one resulting in the N-terminal amino acid sequences of EP2A, EP2B and EP2F and the other in the N-terminal sequences of EP2D, EP2E and EP2G.; Name=EP2A; Synonyms=HE2 alpha1; IsoId=Q08648-1; Sequence=Displayed; Name=EP2B; IsoId=Q08648-2; Sequence=VSP_006208; Name=EP2C; Synonyms=HE2C; IsoId=Q08648-3; Sequence=VSP_006209; Name=EP2D; Synonyms=HE2 beta1; IsoId=Q08648-4; Sequence=VSP_006210; Name=EP2E; IsoId=Q08648-5; Sequence=VSP_044926, VSP_044927; Name=EP2F; IsoId=Q08648-6; Sequence=Not described; 


uniprotID: Q9H5K3
geneSymbol: POMK
reactome: R-HSA-5173105;
length: 350
go: ENSG00000185900;
snps: rs34466747 rs397509385 rs34750053 rs34715198 rs397509386 rs33920561 rs199756983
name:
Protein O-mannose kinase (POMK) (EC 2.7.1.183) (Protein kinase-like protein SgK196) (Sugen kinase 196)

sequence:

opentargets:
endoplasmic reticulum membrane [GO:0005789]; integral component of membrane [GO:0016021]; ATP binding [GO:0005524]; carbohydrate kinase activity [GO:0019200]; phosphotransferase activity, alcohol group as acceptor [GO:0016773]; protein kinase activity [GO:0004672]; brain development [GO:0007420]; carbohydrate phosphorylation [GO:0046835]; learning or memory [GO:0007611]; neuromuscular process [GO:0050905]; neuron migration [GO:0001764]; protein O-linked glycosylation [GO:0006493]; sensory perception of pain [GO:0019233]

location:
SUBCELLULAR LOCATION: Endoplasmic reticulum membrane {ECO:0000305}; Single-pass type II membrane protein {ECO:0000305}.


uniprotID: O95470
geneSymbol: SGPL1
reactome: R-HSA-1660661;
pdb: 4Q6R;
length: 568
go: ENSG00000166224;
drug: DB00114;
snps: rs12770335 rs769259446 rs1131692255 rs1131692256 rs779485098
name:
Sphingosine-1-phosphate lyase 1 (S1PL) (SP-lyase 1) (SPL 1) (hSPL) (EC 4.1.2.27) (Sphingosine-1-phosphate aldolase)

sequence:

opentargets:
endoplasmic reticulum [GO:0005783]; endoplasmic reticulum membrane [GO:0005789]; integral component of endoplasmic reticulum membrane [GO:0030176]; carboxy-lyase activity [GO:0016831]; pyridoxal phosphate binding [GO:0030170]; sphinganine-1-phosphate aldolase activity [GO:0008117]; ameboidal-type cell migration [GO:0001667]; androgen metabolic process [GO:0008209]; apoptotic signaling pathway [GO:0097190]; ceramide metabolic process [GO:0006672]; estrogen metabolic process [GO:0008210]; face morphogenesis [GO:0060325]; fatty acid metabolic process [GO:0006631]; fibroblast migration [GO:0010761]; hemopoiesis [GO:0030097]; kidney development [GO:0001822]; Leydig cell differentiation [GO:0033327]; luteinization [GO:0001553]; platelet-derived growth factor receptor signaling pathway [GO:0048008]; post-embryonic development [GO:0009791]; regulation of multicellular organism growth [GO:0040014]; roof of mouth development [GO:0060021]; skeletal system morphogenesis [GO:0048705]; spermatogenesis [GO:0007283]; sphingolipid biosynthetic process [GO:0030148]; sphingolipid catabolic process [GO:0030149]; sphingolipid metabolic process [GO:0006665]; vasculogenesis [GO:0001570]

location:
SUBCELLULAR LOCATION: Endoplasmic reticulum membrane {ECO:0000269|PubMed:14570870}; Single-pass type III membrane protein {ECO:0000255}.


uniprotID: P62241
geneSymbol: RPS8
pdb: 4UG0;4V6X;5A2Q;5AJ0;5FLX;5LKS;5OA3;5T2C;5VYC;6EK0;6FEC;6G18;6G4S;6G4W;6G51;6G53;6G5H;6G5I;
name: 40S ribosomal protein S8 (Small ribosomal subunit protein eS8)
length: 208
go: ENSG00000142937;
snps: rs11537870
sequence:

opentargets:
cytosol [GO:0005829]; cytosolic small ribosomal subunit [GO:0022627]; endoplasmic reticulum [GO:0005783]; extracellular exosome [GO:0070062]; focal adhesion [GO:0005925]; membrane [GO:0016020]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; ribonucleoprotein complex [GO:1990904]; RNA binding [GO:0003723]; structural constituent of ribosome [GO:0003735]; maturation of SSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) [GO:0000462]; nuclear-transcribed mRNA catabolic process, nonsense-mediated decay [GO:0000184]; SRP-dependent cotranslational protein targeting to membrane [GO:0006614]; translation [GO:0006412]; translational initiation [GO:0006413]

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:17289661}. Membrane {ECO:0000305}; Lipid-anchor {ECO:0000305}. Note=Localized in cytoplasmic mRNP granules containing untranslated mRNAs.


uniprotID: Q6T310
geneSymbol: RASL11A
name: Ras-like protein family member 11A
length: 242
go: ENSG00000122035;
sequence:

opentargets:
membrane [GO:0016020]; nucleolus [GO:0005730]; GTP binding [GO:0005525]; GTPase activity [GO:0003924]; positive regulation of transcription by RNA polymerase I [GO:0045943]; signal transduction [GO:0007165]

location:
SUBCELLULAR LOCATION: Nucleus, nucleolus {ECO:0000250}. Note=Associates with rDNA transcription unit throughout the cell cycle. {ECO:0000250}.


uniprotID: Q8WTV0
geneSymbol: SCARB1
reactome: R-HSA-3000471;R-HSA-8964011;
length: 552
go: ENSG00000073060;
drug: DB00144;
snps: rs4238001 rs5891 rs199588922 rs10396213 rs387906791 rs74830677 rs2293440
name:
Scavenger receptor class B member 1 (SRB1) (CD36 and LIMPII analogous 1) (CLA-1) (CD36 antigen-like 1) (Collagen type I receptor, thrombospondin receptor-like 1) (SR-BI) (CD antigen CD36)

sequence:

opentargets:
caveola [GO:0005901]; cell surface [GO:0009986]; endocytic vesicle membrane [GO:0030666]; extracellular exosome [GO:0070062]; integral component of plasma membrane [GO:0005887]; intracellular membrane-bounded organelle [GO:0043231]; lysosomal membrane [GO:0005765]; microvillus membrane [GO:0031528]; plasma membrane [GO:0005886]; 1-phosphatidylinositol binding [GO:0005545]; amyloid-beta binding [GO:0001540]; apolipoprotein A-I binding [GO:0034186]; apolipoprotein binding [GO:0034185]; high-density lipoprotein particle binding [GO:0008035]; high-density lipoprotein particle receptor activity [GO:0070506]; lipopolysaccharide binding [GO:0001530]; lipopolysaccharide receptor activity [GO:0001875]; low-density lipoprotein particle binding [GO:0030169]; phosphatidylserine binding [GO:0001786]; protein homodimerization activity [GO:0042803]; scavenger receptor activity [GO:0005044]; transporter activity [GO:0005215]; virus receptor activity [GO:0001618]; adhesion of symbiont to host [GO:0044406]; androgen biosynthetic process [GO:0006702]; blood vessel endothelial cell migration [GO:0043534]; cholesterol catabolic process [GO:0006707]; cholesterol efflux [GO:0033344]; cholesterol homeostasis [GO:0042632]; cholesterol import [GO:0070508]; detection of lipopolysaccharide [GO:0032497]; endothelial cell proliferation [GO:0001935]; high-density lipoprotein particle clearance [GO:0034384]; high-density lipoprotein particle remodeling [GO:0034375]; intestinal absorption [GO:0050892]; lipopolysaccharide transport [GO:0015920]; low-density lipoprotein particle clearance [GO:0034383]; phospholipid transport [GO:0015914]; positive regulation of cholesterol storage [GO:0010886]; positive regulation of endothelial cell migration [GO:0010595]; positive regulation of nitric-oxide synthase activity [GO:0051000]; positive regulation of triglyceride biosynthetic process [GO:0010867]; receptor-mediated endocytosis [GO:0006898]; recognition of apoptotic cell [GO:0043654]; regulation of phagocytosis [GO:0050764]; regulation of phosphatidylcholine catabolic process [GO:0010899]; reverse cholesterol transport [GO:0043691]; triglyceride homeostasis [GO:0070328]; vitamin transmembrane transport [GO:0035461]; wound healing [GO:0042060]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=5;  Name=3; IsoId=Q8WTV0-1; Sequence=Displayed; Note=May be due to a competing donor splice site. No experimental confirmation available.; Name=1; Synonyms=SR-BI; IsoId=Q8WTV0-2; Sequence=VSP_008554; Name=2; Synonyms=SR-BII; IsoId=Q8WTV0-3; Sequence=VSP_008553, VSP_008554; Name=4; Synonyms=SR-BIII; IsoId=Q8WTV0-4; Sequence=VSP_011037, VSP_008554; Name=5; Synonyms=SR-BI.2 {ECO:0000303|PubMed:9254074}, SR-BII {ECO:0000303|PubMed:9614139}; IsoId=Q8WTV0-5; Sequence=VSP_054083; Note=No experimental confirmation available. Gene prediction based on EST data.; 

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:26965621}; Multi-pass membrane protein. Membrane, caveola {ECO:0000250|UniProtKB:Q61009}; Multi-pass membrane protein. Note=Predominantly localized to cholesterol and sphingomyelin-enriched domains within the plasma membrane, called caveolae.


uniprotID: Q14108
geneSymbol: SCARB2
reactome: R-HSA-8856825;R-HSA-8856828;
pdb: 4F7B;4Q4B;4Q4F;4TVZ;4TW0;4TW2;5UPH;5XBM;
length: 478
go: ENSG00000138760;
snps: rs758857853 rs755903502
name:
Lysosome membrane protein 2 (85 kDa lysosomal membrane sialoglycoprotein) (LGP85) (CD36 antigen-like 2) (Lysosome membrane protein II) (LIMP II) (Scavenger receptor class B member 2) (CD antigen CD36)

sequence:

opentargets:
cell surface [GO:0009986]; clathrin-coated vesicle membrane [GO:0030665]; endoplasmic reticulum membrane [GO:0005789]; endosome membrane [GO:0010008]; extracellular exosome [GO:0070062]; focal adhesion [GO:0005925]; Golgi membrane [GO:0000139]; integral component of membrane [GO:0016021]; late endosome membrane [GO:0031902]; lysosomal lumen [GO:0043202]; lysosomal membrane [GO:0005765]; membrane [GO:0016020]; plasma membrane [GO:0005886]; enzyme binding [GO:0019899]; scavenger receptor activity [GO:0005044]; transmembrane signaling receptor activity [GO:0004888]; virus receptor activity [GO:0001618]; action potential [GO:0001508]; fatty acid metabolic process [GO:0006631]; membrane organization [GO:0061024]; phagocytosis, engulfment [GO:0006911]; positive regulation of neuron projection development [GO:0010976]; production of molecular mediator involved in inflammatory response [GO:0002532]; protein targeting to lysosome [GO:0006622]; regulation of endosome organization [GO:1904978]; regulation of glucosylceramidase activity [GO:1905123]; regulation of lipopolysaccharide-mediated signaling pathway [GO:0031664]; regulation of lysosome organization [GO:1905671]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q14108-1; Sequence=Displayed; Name=2; IsoId=Q14108-2; Sequence=VSP_044826; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Lysosome membrane {ECO:0000269|PubMed:17897319, ECO:0000269|PubMed:18022370, ECO:0000269|PubMed:7509809}; Multi-pass membrane protein {ECO:0000269|PubMed:17897319, ECO:0000269|PubMed:18022370, ECO:0000269|PubMed:7509809}.


uniprotID: O75711
geneSymbol: SCRG1
name: Scrapie-responsive protein 1 (Scrapie-responsive gene 1 protein) (ScRG-1)
sequence: MKLMVLVFTIGLTLLLGVQAMPANRLSCYRKILKDHNCHNLPEGVADLTQIDVNVQDHFWDGKGCEMICYCNFSELLCCPKDVFFGPKISFVIPCNNQ
length: 98
go: ENSG00000164106;
snps: rs2306465
location: SUBCELLULAR LOCATION: Secreted {ECO:0000305}.
opentargets:
extracellular space [GO:0005615]; Golgi apparatus [GO:0005794]; neuron projection terminus [GO:0044306]; nervous system development [GO:0007399]


uniprotID: Q14160
geneSymbol: SCRIB
reactome: R-HSA-4608870;
pdb: 1UJU;1WHA;1X5Q;2W4F;4WYT;4WYU;5VWC;5VWI;5VWK;6ESP;
name: Protein scribble homolog (Scribble) (hScrib) (Protein LAP4)
length: 1630
snps: rs6558394
sequence:

opentargets:
basolateral plasma membrane [GO:0016323]; cell junction [GO:0030054]; cell-cell adherens junction [GO:0005913]; cell-cell contact zone [GO:0044291]; cell-cell junction [GO:0005911]; extracellular exosome [GO:0070062]; extrinsic component of postsynaptic density membrane [GO:0099147]; glutamatergic synapse [GO:0098978]; lamellipodium [GO:0030027]; myelin sheath abaxonal region [GO:0035748]; nucleoplasm [GO:0005654]; plasma membrane [GO:0005886]; postsynaptic density [GO:0014069]; presynapse [GO:0098793]; Scrib-APC-beta-catenin complex [GO:0034750]; synapse [GO:0045202]; cadherin binding [GO:0045296]; ionotropic glutamate receptor binding [GO:0035255]; activation of GTPase activity [GO:0090630]; apoptotic process involved in morphogenesis [GO:0060561]; astrocyte cell migration [GO:0043615]; auditory receptor cell stereocilium organization [GO:0060088]; cell migration [GO:0016477]; cell proliferation [GO:0008283]; cell-cell adhesion [GO:0098609]; cochlear nucleus development [GO:0021747]; establishment of apical/basal cell polarity [GO:0035089]; establishment or maintenance of epithelial cell apical/basal polarity [GO:0045197]; mammary gland duct morphogenesis [GO:0060603]; negative regulation of mitotic cell cycle [GO:0045930]; neural tube closure [GO:0001843]; neurotransmitter receptor transport postsynaptic membrane to endosome [GO:0098968]; neurotransmitter receptor transport, endosome to postsynaptic membrane [GO:0098887]; positive chemotaxis [GO:0050918]; positive regulation of apoptotic process [GO:0043065]; positive regulation of receptor recycling [GO:0001921]; protein localization to adherens junction [GO:0071896]; receptor clustering [GO:0043113]; receptor localization to synapse [GO:0097120]; regulation of postsynaptic neurotransmitter receptor internalization [GO:0099149]; suppression by virus of host STAT1 activity [GO:0039563]; suppression by virus of host STAT2 activity [GO:0039564]; suppression by virus of host type I interferon-mediated signaling pathway [GO:0039502]; synaptic vesicle endocytosis [GO:0048488]; synaptic vesicle targeting [GO:0016080]; wound healing [GO:0042060]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q14160-1; Sequence=Displayed; Name=2; Synonyms=Variant N1; IsoId=Q14160-2; Sequence=VSP_010906; Note=No experimental confirmation available.; Name=3; IsoId=Q14160-3; Sequence=VSP_010908; 

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:28169360}; Peripheral membrane protein. Cell junction, adherens junction. Cell projection, lamellipodium. Cytoplasm. Note=Targeting to cell-cell junctions which is CDH1-dependent is required for the pro-apoptotic activity. Localizes to neuronal post- and pre-synaptic regions.


uniprotID: Q9BWW7
geneSymbol: SCRT1
length: 348
snps: rs7013127
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:11274425}.
name:
Transcriptional repressor scratch 1 (Scratch homolog 1 zinc finger protein) (SCRT) (Scratch 1) (hScrt)

sequence:

opentargets:
nuclear body [GO:0016604]; nucleus [GO:0005634]; DNA binding [GO:0003677]; DNA-binding transcription factor activity [GO:0003700]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; DNA-binding transcription repressor activity, RNA polymerase II-specific [GO:0001227]; metal ion binding [GO:0046872]; RNA polymerase II regulatory region sequence-specific DNA binding [GO:0000977]; sequence-specific DNA binding [GO:0043565]; negative regulation of transcription by RNA polymerase II [GO:0000122]; regulation of neuron migration [GO:2001222]; regulation of transcription, DNA-templated [GO:0006355]


uniprotID: Q12765
geneSymbol: SCRN1
name: Secernin-1
length: 414
go: ENSG00000136193;
snps: rs35960711 rs17324153
location: SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250}.
sequence:

opentargets:
cytoplasm [GO:0005737]; nuclear membrane [GO:0031965]; nucleus [GO:0005634]; dipeptidase activity [GO:0016805]; exocytosis [GO:0006887]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q12765-1; Sequence=Displayed; Name=2; IsoId=Q12765-2; Sequence=VSP_044454; Note=No experimental confirmation available.; Name=3; IsoId=Q12765-3; Sequence=VSP_044453; Note=No experimental confirmation available.; 


uniprotID: Q8WVN6
geneSymbol: SECTM1
name: Secreted and transmembrane protein 1 (Protein K-12)
length: 248
go: ENSG00000141574;
sequence:

opentargets:
extracellular exosome [GO:0070062]; extracellular space [GO:0005615]; Golgi apparatus [GO:0005794]; integral component of membrane [GO:0016021]; plasma membrane [GO:0005886]; cytokine activity [GO:0005125]; immune response [GO:0006955]; mesoderm development [GO:0007498]; positive regulation of I-kappaB kinase/NF-kappaB signaling [GO:0043123]

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000305}; Single-pass type I membrane protein {ECO:0000305}. Secreted.


uniprotID: P47872
geneSymbol: SCTR
reactome: R-HSA-418555;R-HSA-420092;
name: Secretin receptor (SCT-R)
length: 440
go: ENSG00000080293;
drug: DB00021;
snps: rs6726491 rs3731600
location: SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein.
sequence:

opentargets:
cytoplasmic microtubule [GO:0005881]; integral component of membrane [GO:0016021]; plasma membrane [GO:0005886]; G protein-coupled peptide receptor activity [GO:0008528]; peptide hormone binding [GO:0017046]; secretin receptor activity [GO:0015055]; brain development [GO:0007420]; cell surface receptor signaling pathway [GO:0007166]; G protein-coupled receptor signaling pathway [GO:0007186]


uniprotID: Q9NQ36
geneSymbol: SCUBE2
reactome: R-HSA-5362798;
name: Signal peptide, CUB and EGF-like domain-containing protein 2 (Protein CEGP1) (Scube/You)
length: 999
go: ENSG00000175356;
snps: rs3751055 rs7395988 rs12419343 rs3751057 rs3751059
sequence:

opentargets:
cell surface [GO:0009986]; extracellular region [GO:0005576]; extracellular space [GO:0005615]; calcium ion binding [GO:0005509]; lipid binding [GO:0008289]; multicellular organism development [GO:0007275]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q9NQ36-1; Sequence=Displayed; Name=2; IsoId=Q9NQ36-2; Sequence=VSP_021294, VSP_039955; Name=3; IsoId=Q9NQ36-3; Sequence=VSP_021293, VSP_021295; 

location:
SUBCELLULAR LOCATION: Secreted. Cell surface {ECO:0000269|PubMed:19480626}. Note=Secreted and tethered at the cell surface (PubMed:19480626). {ECO:0000269|PubMed:19480626}.


uniprotID: Q7RTU7
geneSymbol: SCX
length: 201
go: ENSG00000260428;
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000255|PROSITE-ProRule:PRU00981}.
name:
Basic helix-loop-helix transcription factor scleraxis (Class A basic helix-loop-helix protein 41) (bHLHa41) (Class A basic helix-loop-helix protein 48) (bHLHa48)

sequence:

opentargets:
nucleus [GO:0005634]; transcription factor complex [GO:0005667]; bHLH transcription factor binding [GO:0043425]; distal enhancer DNA-binding transcription activator activity, RNA polymerase II-specific [GO:0001205]; DNA binding [GO:0003677]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; E-box binding [GO:0070888]; protein heterodimerization activity [GO:0046982]; RNA polymerase II distal enhancer sequence-specific DNA binding [GO:0000980]; sequence-specific DNA binding [GO:0043565]; BMP signaling pathway [GO:0030509]; cell differentiation [GO:0030154]; cellular response to mechanical stimulus [GO:0071260]; cellular response to transforming growth factor beta stimulus [GO:0071560]; chondrocyte differentiation [GO:0002062]; collagen fibril organization [GO:0030199]; deltoid tuberosity development [GO:0035993]; embryonic skeletal system development [GO:0048706]; endochondral ossification [GO:0001958]; face morphogenesis [GO:0060325]; heart valve formation [GO:0003188]; heart valve morphogenesis [GO:0003179]; mesoderm formation [GO:0001707]; negative regulation of apoptotic process [GO:0043066]; negative regulation of transcription, DNA-templated [GO:0045892]; positive regulation of cartilage development [GO:0061036]; positive regulation of cell proliferation [GO:0008284]; positive regulation of collagen biosynthetic process [GO:0032967]; positive regulation of gastrulation [GO:2000543]; positive regulation of gene expression [GO:0010628]; positive regulation of transcription by RNA polymerase II [GO:0045944]; positive regulation of transcription, DNA-templated [GO:0045893]; regulation of cartilage development [GO:0061035]; sclerotome development [GO:0061056]; Sertoli cell differentiation [GO:0060008]; skeletal muscle cell differentiation [GO:0035914]; tendon cell differentiation [GO:0035990]; tendon development [GO:0035989]; tendon formation [GO:0035992]; tissue homeostasis [GO:0001894]; transcription, DNA-templated [GO:0006351]


uniprotID: Q96KG9
geneSymbol: SCYL1
length: 808
go: ENSG00000142186;
drug: DB05036;
snps: rs55977709 rs56076708 rs56077405
name:
N-terminal kinase-like protein (Coated vesicle-associated kinase of 90 kDa) (SCY1-like protein 1) (Telomerase regulation-associated protein) (Telomerase transcriptional element-interacting factor) (Teratoma-associated tyrosine kinase)

sequence:

opentargets:
cis-Golgi network [GO:0005801]; COPI vesicle coat [GO:0030126]; cytoplasm [GO:0005737]; cytosol [GO:0005829]; endoplasmic reticulum-Golgi intermediate compartment [GO:0005793]; Golgi apparatus [GO:0005794]; membrane [GO:0016020]; microtubule organizing center [GO:0005815]; nucleus [GO:0005634]; ATP binding [GO:0005524]; cadherin binding [GO:0045296]; DNA binding [GO:0003677]; protein tyrosine kinase activity [GO:0004713]; retrograde vesicle-mediated transport, Golgi to ER [GO:0006890]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=6;  Name=1; IsoId=Q96KG9-1; Sequence=Displayed; Name=2; Synonyms=Variant 1; IsoId=Q96KG9-2; Sequence=VSP_020504; Name=3; Synonyms=Variant 2; IsoId=Q96KG9-3; Sequence=VSP_020504, VSP_020506; Note=Non-canonical splice junctions.; Name=4; IsoId=Q96KG9-4; Sequence=VSP_020508; Name=5; IsoId=Q96KG9-5; Sequence=VSP_020503, VSP_020505; Name=6; IsoId=Q96KG9-6; Sequence=VSP_020507; 

location:
SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton, microtubule organizing center, centrosome {ECO:0000269|PubMed:18556652}. Endoplasmic reticulum-Golgi intermediate compartment {ECO:0000269|PubMed:18556652}. Golgi apparatus, cis-Golgi network {ECO:0000269|PubMed:18556652}. Note=Localized to the Endoplasmic reticulum-Golgi intermediate and cis-Golgi in an ARF1-independent manner.; SUBCELLULAR LOCATION: Isoform 1: Cytoplasm. Note=Cytoplasmic throughout the cell cycle.; SUBCELLULAR LOCATION: Isoform 2: Cytoplasm. Note=Cytoplasmic throughout the cell cycle.; SUBCELLULAR LOCATION: Isoform 3: Cytoplasm. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome. Note=Cytoplasmic during interphase and centrosomal during mitosis, it localizes to the centrosomes in a microtubule-independent manner.; SUBCELLULAR LOCATION: Isoform 6: Nucleus {ECO:0000269|PubMed:15504359}.


uniprotID: Q6P3W7
geneSymbol: SCYL2
name: SCY1-like protein 2 (Coated vesicle-associated kinase of 104 kDa)
length: 929
go: ENSG00000136021;
snps: rs33968174 rs763873645
sequence:

opentargets:
clathrin-coated vesicle [GO:0030136]; endosome membrane [GO:0010008]; Golgi apparatus [GO:0005794]; perinuclear region of cytoplasm [GO:0048471]; ATP binding [GO:0005524]; protein kinase activity [GO:0004672]; signaling receptor binding [GO:0005102]; endosome to lysosome transport [GO:0008333]; negative regulation of canonical Wnt signaling pathway [GO:0090090]; positive regulation of clathrin-dependent endocytosis [GO:2000370]; positive regulation of receptor internalization [GO:0002092]; receptor internalization involved in canonical Wnt signaling pathway [GO:2000286]

location:
SUBCELLULAR LOCATION: Cytoplasm, perinuclear region. Cytoplasmic vesicle, clathrin-coated vesicle. Golgi apparatus, trans-Golgi network membrane. Endosome membrane. Note=According to PubMed:15809293, plasma membrane-associated in clathrin-coated vesicles. According to PubMed:16914521, colocalizes to the trans-Golgi network (TGN) and to endosomal membranes with clathrin, transferrin and plasma membrane adapter AP1 and AP3 complexes.


uniprotID: Q9NVU7
geneSymbol: SDAD1
name: Protein SDA1 homolog (Nucleolar protein 130) (SDA1 domain-containing protein 1) (hSDA)
length: 687
go: ENSG00000198301;
snps: rs15481 rs34627298 rs2242471 rs17001276
sequence:

opentargets:
nucleolus [GO:0005730]; nucleus [GO:0005634]; actin cytoskeleton organization [GO:0030036]; ribosomal large subunit biogenesis [GO:0042273]; ribosomal large subunit export from nucleus [GO:0000055]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9NVU7-1; Sequence=Displayed; Name=2; IsoId=Q9NVU7-2; Sequence=VSP_025505; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Nucleus, nucleolus {ECO:0000269|PubMed:11790298, ECO:0000269|PubMed:14976432}.


uniprotID: O75056
geneSymbol: SDC3
name: Syndecan-3 (SYND3)
length: 442
go: ENSG00000162512;
snps: rs2491132 rs4949184 rs2282440
location: SUBCELLULAR LOCATION: Membrane; Single-pass type I membrane protein.
reactome:
R-HSA-1971475;R-HSA-2022928;R-HSA-2024096;R-HSA-202733;R-HSA-3000170;R-HSA-3560783;R-HSA-3560801;R-HSA-3656237;R-HSA-3656253;R-HSA-4420332;R-HSA-975634;

sequence:

opentargets:
cell surface [GO:0009986]; collagen-containing extracellular matrix [GO:0062023]; Golgi lumen [GO:0005796]; integral component of membrane [GO:0016021]; lysosomal lumen [GO:0043202]; membrane [GO:0016020]; plasma membrane [GO:0005886]; identical protein binding [GO:0042802]; glycosaminoglycan biosynthetic process [GO:0006024]; glycosaminoglycan catabolic process [GO:0006027]; leukocyte migration [GO:0050900]; retinoid metabolic process [GO:0001523]


uniprotID: P31431
geneSymbol: SDC4
pdb: 1EJP;1EJQ;1OBY;1YBO;
name: Syndecan-4 (SYND4) (Amphiglycan) (Ryudocan core protein)
length: 198
go: ENSG00000124145;
snps: rs2228384
reactome:
R-HSA-1971475;R-HSA-2022928;R-HSA-2024096;R-HSA-202733;R-HSA-3000170;R-HSA-3560783;R-HSA-3560801;R-HSA-3656237;R-HSA-3656253;R-HSA-4420332;R-HSA-975634;

sequence:
MAPARLFALLLFFVGGVAESIRETEVIDPQDLLEGRYFSGALPDDEDVVGPGQESDDFELSGSGDLDDLEDSMIGPEVVHPLVPLDNHIPERAGSGSQVPTEPKKLEENEVIPKRISPVEESEDVSNKVSMSSTVQGSNIFERTEVLAALIVGGIVGILFAVFLILLLMYRMKKKDEGSYDLGKKPIYKKAPTNEFYA

opentargets:
cell surface [GO:0009986]; costamere [GO:0043034]; extracellular exosome [GO:0070062]; focal adhesion [GO:0005925]; Golgi lumen [GO:0005796]; integral component of plasma membrane [GO:0005887]; lysosomal lumen [GO:0043202]; membrane raft [GO:0045121]; plasma membrane [GO:0005886]; fibronectin binding [GO:0001968]; identical protein binding [GO:0042802]; protein kinase C binding [GO:0005080]; thrombospondin receptor activity [GO:0070053]; glycosaminoglycan biosynthetic process [GO:0006024]; glycosaminoglycan catabolic process [GO:0006027]; inner ear receptor cell stereocilium organization [GO:0060122]; leukocyte migration [GO:0050900]; negative regulation of T cell proliferation [GO:0042130]; neural tube closure [GO:0001843]; positive regulation of exosomal secretion [GO:1903543]; positive regulation of extracellular exosome assembly [GO:1903553]; positive regulation of focal adhesion assembly [GO:0051894]; positive regulation of protein kinase activity [GO:0045860]; positive regulation of stress fiber assembly [GO:0051496]; regulation of fibroblast migration [GO:0010762]; retinoid metabolic process [GO:0001523]; ureteric bud development [GO:0001657]; wound healing [GO:0042060]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P31431-1; Sequence=Displayed; Name=2; IsoId=P31431-2; Sequence=VSP_044449; Note=Soluble form, lacks the transmembrane domain.; 

location:
SUBCELLULAR LOCATION: Isoform 1: Membrane {ECO:0000255}; Single-pass type I membrane protein {ECO:0000255}. Secreted {ECO:0000269|PubMed:9169435}. Note=Shedding of the ectodomain produces a soluble form. {ECO:0000269|PubMed:9169435}.; SUBCELLULAR LOCATION: Isoform 2: Secreted.


uniprotID: Q9NSE4
geneSymbol: IARS2
reactome: R-HSA-379726;
name: Isoleucine--tRNA ligase, mitochondrial (EC 6.1.1.5) (Isoleucyl-tRNA synthetase) (IleRS)
length: 1012
go: ENSG00000067704;
drug: DB00167;
snps: rs2577154 rs11800305 rs143722284 rs587783070
location: SUBCELLULAR LOCATION: Mitochondrion matrix {ECO:0000250}.
sequence:

opentargets:
cytosol [GO:0005829]; mitochondrial matrix [GO:0005759]; mitochondrion [GO:0005739]; aminoacyl-tRNA editing activity [GO:0002161]; ATP binding [GO:0005524]; isoleucine-tRNA ligase activity [GO:0004822]; tRNA binding [GO:0000049]; isoleucyl-tRNA aminoacylation [GO:0006428]; mitochondrial translation [GO:0032543]; tRNA aminoacylation for protein translation [GO:0006418]


uniprotID: A6NFY7
geneSymbol: SDHAF1
length: 115
go: ENSG00000205138;
snps: rs137853193 rs137853192
location: SUBCELLULAR LOCATION: Mitochondrion matrix {ECO:0000305|PubMed:19465911}.
name:
Succinate dehydrogenase assembly factor 1, mitochondrial (SDH assembly factor 1) (SDHAF1) (LYR motif-containing protein 8)

sequence:
MSRHSRLQRQVLSLYRDLLRAGRGKPGAEARVRAEFRQHAGLPRSDVLRIEYLYRRGRRQLQLLRSGHATAMGAFVRPRAPTGEPGGVGCQPDDGDSPRNPHDSTGAPETRPDGR

opentargets:
mitochondrial matrix [GO:0005759]; mitochondrion [GO:0005739]; mitochondrial respiratory chain complex II assembly [GO:0034553]


uniprotID: Q6ZPB5
geneSymbol: SDIM1
name: Stress-responsive DNAJB4-interacting membrane protein 1
length: 146
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Multi-pass membrane protein {ECO:0000305}.
sequence:
MWPAPCSVGRLLIFFMCSSSGYVVQGCGPSPGARTTLGSPLSLWSIKTPSHIFCTRRAINLGFPSPPLVQLIFWSLNAGLDLYLCLISSCGFSQVFWPVEAFCSFSLSFFALALSHKFVICRLDQHIFSGFTKSLKNLPPCHRTDI

opentargets:
integral component of membrane [GO:0016021]; protein homodimerization activity [GO:0042803]; cellular response to hypoxia [GO:0071456]; negative regulation of cell death [GO:0060548]; neuron apoptotic process [GO:0051402]


uniprotID: P20132
geneSymbol: SDS
reactome: R-HSA-8849175;
pdb: 1P5J;4H27;
length: 328
go: ENSG00000135094;
drug: DB00133;DB00114;
location: SUBCELLULAR LOCATION: Cytoplasm.
name:
L-serine dehydratase/L-threonine deaminase (SDH) (EC 4.3.1.17) (L-serine deaminase) (L-threonine dehydratase) (TDH) (EC 4.3.1.19)

sequence:

opentargets:
cytosol [GO:0005829]; mitochondrion [GO:0005739]; hydro-lyase activity [GO:0016836]; L-serine ammonia-lyase activity [GO:0003941]; L-threonine ammonia-lyase activity [GO:0004794]; protein homodimerization activity [GO:0042803]; pyridoxal phosphate binding [GO:0030170]; gluconeogenesis [GO:0006094]; L-serine catabolic process [GO:0006565]; L-threonine catabolic process to glycine [GO:0019518]; pyruvate biosynthetic process [GO:0042866]; threonine catabolic process [GO:0006567]


uniprotID: P55735
geneSymbol: SEC13
pdb: 3BG0;3BG1;5A9Q;
name: Protein SEC13 homolog (GATOR complex protein SEC13) (SEC13-like protein 1) (SEC13-related protein)
length: 322
go: ENSG00000157020;
snps: rs34078590
reactome:
R-HSA-141444;R-HSA-204005;R-HSA-2132295;R-HSA-2467813;R-HSA-2500257;R-HSA-5663220;R-HSA-68877;R-HSA-983170;

sequence:

opentargets:
COPII vesicle coat [GO:0030127]; cytosol [GO:0005829]; endoplasmic reticulum exit site [GO:0070971]; endoplasmic reticulum membrane [GO:0005789]; ER to Golgi transport vesicle membrane [GO:0012507]; extracellular exosome [GO:0070062]; GATOR2 complex [GO:0061700]; Golgi membrane [GO:0000139]; intracellular membrane-bounded organelle [GO:0043231]; lysosomal membrane [GO:0005765]; nuclear envelope [GO:0005635]; nuclear pore outer ring [GO:0031080]; nucleoplasm [GO:0005654]; identical protein binding [GO:0042802]; structural molecule activity [GO:0005198]; antigen processing and presentation of exogenous peptide antigen via MHC class II [GO:0019886]; antigen processing and presentation of peptide antigen via MHC class I [GO:0002474]; cargo loading into COPII-coated vesicle [GO:0090110]; COPII vesicle coating [GO:0048208]; COPII-coated vesicle budding [GO:0090114]; intracellular protein transport [GO:0006886]; mRNA transport [GO:0051028]; nuclear pore distribution [GO:0031081]; positive regulation of GTPase activity [GO:0043547]; positive regulation of TOR signaling [GO:0032008]; positive regulation of TORC1 signaling [GO:1904263]; positive regulation of transcription, DNA-templated [GO:0045893]; protein exit from endoplasmic reticulum [GO:0032527]; ubiquitin-dependent ERAD pathway [GO:0030433]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=P55735-1; Sequence=Displayed; Name=2; IsoId=P55735-2; Sequence=VSP_046191; Note=No experimental confirmation available.; Name=3; IsoId=P55735-3; Sequence=VSP_054695; Note=No experimental confirmation available.; Name=4; IsoId=P55735-4; Sequence=VSP_058966; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasmic vesicle, COPII-coated vesicle membrane {ECO:0000269|PubMed:8972206}; Peripheral membrane protein {ECO:0000269|PubMed:8972206}; Cytoplasmic side {ECO:0000269|PubMed:8972206}. Endoplasmic reticulum membrane {ECO:0000269|PubMed:8972206}; Peripheral membrane protein {ECO:0000269|PubMed:8972206}; Cytoplasmic side {ECO:0000269|PubMed:8972206}. Nucleus, nuclear pore complex {ECO:0000269|PubMed:14517296, ECO:0000269|PubMed:18160040}. Lysosome membrane {ECO:0000269|PubMed:28199306}. Note=In interphase, localizes at both sides of the NPC. {ECO:0000269|PubMed:14517296}.


uniprotID: Q12981
geneSymbol: BNIP1
reactome: R-HSA-6811434;
length: 228
go: ENSG00000113734;
snps: rs5745100
name:
Vesicle transport protein SEC20 (BCL2/adenovirus E1B 19 kDa protein-interacting protein 1) (Transformation-related gene 8 protein) (TRG-8)

sequence:

opentargets:
cytoplasm [GO:0005737]; endoplasmic reticulum [GO:0005783]; endoplasmic reticulum membrane [GO:0005789]; integral component of endoplasmic reticulum membrane [GO:0030176]; intracellular membrane-bounded organelle [GO:0043231]; mitochondrial membrane [GO:0031966]; nuclear envelope [GO:0005635]; SNARE complex [GO:0031201]; SNAP receptor activity [GO:0005484]; apoptotic process [GO:0006915]; endoplasmic reticulum membrane fusion [GO:0016320]; endoplasmic reticulum organization [GO:0007029]; execution phase of apoptosis [GO:0097194]; negative regulation of apoptotic process [GO:0043066]; retrograde vesicle-mediated transport, Golgi to ER [GO:0006890]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Comment=Additional isoforms seem to exist.; Name=1; Synonyms=BNIP1, S4; IsoId=Q12981-4; Sequence=Displayed; Name=2; Synonyms=BNIP1-a, S1; IsoId=Q12981-2; Sequence=VSP_004330; Name=3; Synonyms=BNIP1-b, S2; IsoId=Q12981-1; Sequence=VSP_017901; Name=4; Synonyms=BNIP1-c, S3; IsoId=Q12981-3; Sequence=VSP_017901, VSP_004330; 

location:
SUBCELLULAR LOCATION: Endoplasmic reticulum membrane {ECO:0000269|PubMed:15272311, ECO:0000269|PubMed:23896122}; Single-pass type IV membrane protein {ECO:0000255}. Mitochondrion membrane {ECO:0000269|PubMed:21931693, ECO:0000269|PubMed:23896122}; Single-pass type IV membrane protein {ECO:0000255}. Note=Localization to the mitochondrion is regulated by RNF186. {ECO:0000269|PubMed:23896122}.


uniprotID: Q6UXD5
geneSymbol: SEZ6L2
name: Seizure 6-like protein 2
length: 910
go: ENSG00000174938;
snps: rs11649499
sequence:

opentargets:
endoplasmic reticulum membrane [GO:0005789]; integral component of membrane [GO:0016021]; plasma membrane [GO:0005886]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=6;  Name=1; IsoId=Q6UXD5-1; Sequence=Displayed; Name=2; Synonyms=psk-3; IsoId=Q6UXD5-2; Sequence=VSP_033595; Name=3; Synonyms=psk-1; IsoId=Q6UXD5-3; Sequence=VSP_033595, VSP_033596; Name=4; Synonyms=psk-2; IsoId=Q6UXD5-4; Sequence=VSP_033595, VSP_033597; Name=5; IsoId=Q6UXD5-5; Sequence=VSP_044739, VSP_033596; Note=No experimental confirmation available.; Name=6; IsoId=Q6UXD5-6; Sequence=VSP_045702, VSP_045703; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:16863507}; Single-pass type I membrane protein {ECO:0000269|PubMed:16863507}. Endoplasmic reticulum membrane {ECO:0000250}; Single-pass type I membrane protein {ECO:0000250}. Note=Detected on cell surface of lung-cancer.


uniprotID: Q9HB31
geneSymbol: SEBOX
name: Homeobox protein SEBOX (Homeobox OG-9) (Skin-, embryo-, brain- and oocyte-specific homeobox)
length: 216
snps: rs9910163
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000255|PROSITE-ProRule:PRU00108}.
sequence:

opentargets:
nucleus [GO:0005634]; DNA binding [GO:0003677]; embryo development ending in birth or egg hatching [GO:0009792]; oogenesis [GO:0048477]


uniprotID: Q96T21
geneSymbol: SECISBP2
reactome: R-HSA-2408557;
name: Selenocysteine insertion sequence-binding protein 2 (SECIS-binding protein 2)
length: 854
go: ENSG00000187742;
snps: rs45452691 rs119461976
sequence:

opentargets:
mitochondrion [GO:0005739]; nucleus [GO:0005634]; ribonucleoprotein complex [GO:1990904]; mRNA 3'-UTR binding [GO:0003730]; ribonucleoprotein complex binding [GO:0043021]; RNA binding [GO:0003723]; selenocysteine insertion sequence binding [GO:0035368]; negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay [GO:2000623]; neuron development [GO:0048666]; selenocysteine incorporation [GO:0001514]; striatum development [GO:0021756]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q96T21-1; Sequence=Displayed; Name=2; Synonyms=mtSBP2; IsoId=Q96T21-2; Sequence=VSP_039070, VSP_039071; Note=Contains a transit peptide at positions 1-15.; Name=3; Synonyms=SBP2_delta2; IsoId=Q96T21-3; Sequence=VSP_055755; 

location:
SUBCELLULAR LOCATION: Isoform 1: Nucleus {ECO:0000305}.; SUBCELLULAR LOCATION: Isoform 2: Mitochondrion {ECO:0000269|PubMed:19004874}.


uniprotID: P57105
geneSymbol: SYNJ2BP
pdb: 2ENO;2JIK;2JIN;
name: Synaptojanin-2-binding protein (Mitochondrial outer membrane protein 25)
length: 145
go: ENSG00000213463;
snps: rs4356408
location: SUBCELLULAR LOCATION: Mitochondrion outer membrane {ECO:0000250}.
sequence:
MNGRVDYLVTEEEINLTRGPSGLGFNIVGGTDQQYVSNDSGIYVSRIKENGAAALDGRLQEGDKILSVNGQDLKNLLHQDAVDLFRNAGYAVSLRVQHRLQVQNGPIGHRGEGDPSGIPIFMVLVPVFALTMVAAWAFMRYRQQL

opentargets:
basolateral plasma membrane [GO:0016323]; cell junction [GO:0030054]; integral component of mitochondrial outer membrane [GO:0031307]; mitochondrion [GO:0005739]; neuromuscular junction [GO:0031594]; neuron projection [GO:0043005]; postsynaptic density membrane [GO:0098839]; ionotropic glutamate receptor binding [GO:0035255]; protein C-terminus binding [GO:0008022]; cell-cell adhesion [GO:0098609]; chemical synaptic transmission [GO:0007268]; establishment or maintenance of epithelial cell apical/basal polarity [GO:0045197]; intracellular distribution of mitochondria [GO:0048312]; negative regulation of angiogenesis [GO:0016525]; negative regulation of endothelial cell migration [GO:0010596]; negative regulation of endothelial cell proliferation [GO:0001937]; negative regulation of ERK1 and ERK2 cascade [GO:0070373]; negative regulation of sprouting angiogenesis [GO:1903671]; protein targeting [GO:0006605]; receptor clustering [GO:0043113]; receptor localization to synapse [GO:0097120]; regulation of endocytosis [GO:0030100]; regulation of Notch signaling pathway [GO:0008593]; Rho protein signal transduction [GO:0007266]


uniprotID: Q15046
geneSymbol: KARS
reactome: R-HSA-2408517;R-HSA-379716;R-HSA-379726;
pdb: 3BJU;4DPG;4YCU;4YCW;6CHD;
name: Lysine--tRNA ligase (EC 2.7.7.-) (EC 6.1.1.6) (Lysyl-tRNA synthetase) (LysRS)
length: 597
go: ENSG00000065427;
drug: DB00123;
sequence:

opentargets:
aminoacyl-tRNA synthetase multienzyme complex [GO:0017101]; cytosol [GO:0005829]; extracellular space [GO:0005615]; mitochondrial matrix [GO:0005759]; mitochondrion [GO:0005739]; nucleus [GO:0005634]; plasma membrane [GO:0005886]; amino acid binding [GO:0016597]; ATP adenylyltransferase activity [GO:0003877]; ATP binding [GO:0005524]; identical protein binding [GO:0042802]; lysine-tRNA ligase activity [GO:0004824]; protein homodimerization activity [GO:0042803]; tRNA binding [GO:0000049]; activation of MAPK activity [GO:0000187]; basophil activation involved in immune response [GO:0002276]; diadenosine tetraphosphate biosynthetic process [GO:0015966]; ERK1 and ERK2 cascade [GO:0070371]; lysyl-tRNA aminoacylation [GO:0006430]; negative regulation of cell proliferation [GO:0008285]; positive regulation of cytokine production involved in inflammatory response [GO:1900017]; positive regulation of cytokine secretion involved in immune response [GO:0002741]; positive regulation of ERK1 and ERK2 cascade [GO:0070374]; positive regulation of macrophage activation [GO:0043032]; positive regulation of macrophage chemotaxis [GO:0010759]; positive regulation of metallopeptidase activity [GO:1905050]; positive regulation of p38MAPK cascade [GO:1900745]; positive regulation of transcription, DNA-templated [GO:0045893]; response to X-ray [GO:0010165]; tRNA aminoacylation for protein translation [GO:0006418]; tRNA processing [GO:0008033]; tumor necrosis factor-mediated signaling pathway [GO:0033209]; viral process [GO:0016032]

snps:
rs267607194 rs397514745 rs11557665 rs146955132 rs397514746 rs761527468 rs778748895 rs770522582 rs6834 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=Cytoplasmic; IsoId=Q15046-1; Sequence=Displayed; Name=Mitochondrial; IsoId=Q15046-2; Sequence=VSP_038481; Note=Mitochondrial precursor. Contains a mitochondrial transit peptide at positions 1-16. {ECO:0000305}; 

location:
SUBCELLULAR LOCATION: Isoform Cytoplasmic: Cytoplasm, cytosol {ECO:0000269|PubMed:10952987, ECO:0000269|PubMed:19289464, ECO:0000269|PubMed:23159739, ECO:0000269|PubMed:28887846}. Cytoplasm {ECO:0000269|PubMed:15220430}. Nucleus {ECO:0000269|PubMed:15220430, ECO:0000269|PubMed:23159739}. Cell membrane {ECO:0000269|PubMed:15220430}; Peripheral membrane protein {ECO:0000269|PubMed:15220430}. Secreted {ECO:0000269|PubMed:15851690}. Note=Secretion is induced by TNF-alpha (PubMed:15851690). Cytosolic in quiescent mast cells. Translocates into the nucleus in response to mast cell activation by immunoglobulin E (PubMed:23159739). {ECO:0000269|PubMed:15851690, ECO:0000269|PubMed:23159739}.; SUBCELLULAR LOCATION: Isoform Mitochondrial: Mitochondrion {ECO:0000269|PubMed:10952987}.


uniprotID: Q15031
geneSymbol: LARS2
reactome: R-HSA-379726;
name: Probable leucine--tRNA ligase, mitochondrial (EC 6.1.1.4) (Leucyl-tRNA synthetase) (LeuRS)
length: 903
go: ENSG00000011376;
drug: DB00149;
snps: rs879255606 rs199589947 rs398123036 rs36054230 rs9827689
location: SUBCELLULAR LOCATION: Mitochondrion matrix {ECO:0000250}.
sequence:

opentargets:
mitochondrial matrix [GO:0005759]; mitochondrion [GO:0005739]; aminoacyl-tRNA editing activity [GO:0002161]; ATP binding [GO:0005524]; leucine-tRNA ligase activity [GO:0004823]; leucyl-tRNA aminoacylation [GO:0006429]; mitochondrial translation [GO:0032543]; tRNA aminoacylation for protein translation [GO:0006418]


uniprotID: P57772
geneSymbol: EEFSEC
reactome: R-HSA-2408557;
pdb: 5IZK;5IZL;5IZM;
length: 596
go: ENSG00000132394;
snps: rs34326479
location: SUBCELLULAR LOCATION: Cytoplasm {ECO:0000305}. Nucleus {ECO:0000305}.
name:
Selenocysteine-specific elongation factor (Elongation factor sec) (Eukaryotic elongation factor, selenocysteine-tRNA-specific)

sequence:

opentargets:
cytoplasm [GO:0005737]; nucleus [GO:0005634]; ribonucleoprotein complex [GO:1990904]; GTP binding [GO:0005525]; GTPase activity [GO:0003924]; ribonucleoprotein complex binding [GO:0043021]; selenocysteine insertion sequence binding [GO:0035368]; translation elongation factor activity [GO:0003746]; tRNA binding [GO:0000049]; selenocysteine incorporation [GO:0001514]; translational elongation [GO:0006414]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P57772-1; Sequence=Displayed; Name=2; IsoId=P57772-2; Sequence=VSP_057185; Note=No experimental confirmation available.; 


uniprotID: Q9H2E6
geneSymbol: SEMA6A
reactome: R-HSA-416700;
name: Semaphorin-6A (Semaphorin VIA) (Sema VIA) (Semaphorin-6A-1) (SEMA6A-1)
length: 1030
snps: rs34966 rs17432496 rs12516652
location: SUBCELLULAR LOCATION: Cell membrane; Single-pass type I membrane protein.
sequence:

opentargets:
axon [GO:0030424]; extracellular space [GO:0005615]; integral component of membrane [GO:0016021]; integral component of plasma membrane [GO:0005887]; chemorepellent activity [GO:0045499]; semaphorin receptor binding [GO:0030215]; animal organ morphogenesis [GO:0009887]; apoptotic process [GO:0006915]; axon guidance [GO:0007411]; cell surface receptor signaling pathway [GO:0007166]; cellular response to vascular endothelial growth factor stimulus [GO:0035924]; cytoskeleton organization [GO:0007010]; negative chemotaxis [GO:0050919]; negative regulation of angiogenesis [GO:0016525]; negative regulation of axon extension involved in axon guidance [GO:0048843]; negative regulation of cell adhesion involved in sprouting angiogenesis [GO:0106089]; negative regulation of ERK1 and ERK2 cascade [GO:0070373]; negative regulation of sprouting angiogenesis [GO:1903671]; negative regulation of vascular endothelial growth factor signaling pathway [GO:1900747]; nervous system development [GO:0007399]; neural crest cell migration [GO:0001755]; positive regulation of cell migration [GO:0030335]; positive regulation of neuron migration [GO:2001224]; semaphorin-plexin signaling pathway [GO:0071526]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9H2E6-1; Sequence=Displayed; Name=2; IsoId=Q9H2E6-2; Sequence=VSP_007113; Note=No experimental confirmation available.; 


uniprotID: Q13275
geneSymbol: SEMA3F
name: Semaphorin-3F (Sema III/F) (Semaphorin IV) (Sema IV)
length: 785
go: ENSG00000001617;
snps: rs1046955 rs1046956
location: SUBCELLULAR LOCATION: Secreted {ECO:0000250}.
sequence:

opentargets:
extracellular space [GO:0005615]; glutamatergic synapse [GO:0098978]; integral component of plasma membrane [GO:0005887]; chemorepellent activity [GO:0045499]; neuropilin binding [GO:0038191]; semaphorin receptor binding [GO:0030215]; axon extension involved in axon guidance [GO:0048846]; axon guidance [GO:0007411]; branchiomotor neuron axon guidance [GO:0021785]; facial nerve structural organization [GO:0021612]; negative chemotaxis [GO:0050919]; negative regulation of axon extension involved in axon guidance [GO:0048843]; nerve development [GO:0021675]; neural crest cell migration [GO:0001755]; neural crest cell migration involved in autonomic nervous system development [GO:1901166]; positive regulation of cell migration [GO:0030335]; regulation of postsynapse organization [GO:0099175]; semaphorin-plexin signaling pathway [GO:0071526]; semaphorin-plexin signaling pathway involved in axon guidance [GO:1902287]; semaphorin-plexin signaling pathway involved in neuron projection guidance [GO:1902285]; sympathetic ganglion development [GO:0061549]; sympathetic neuron projection extension [GO:0097490]; sympathetic neuron projection guidance [GO:0097491]; trigeminal nerve structural organization [GO:0021637]; ventral trunk neural crest cell migration [GO:0036486]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q13275-1; Sequence=Displayed; Name=2; IsoId=Q13275-2; Sequence=VSP_053417; 


uniprotID: Q9H3T3
geneSymbol: SEMA6B
name: Semaphorin-6B (Semaphorin-Z) (Sema Z)
length: 888
go: ENSG00000167680;
location: SUBCELLULAR LOCATION: Cell membrane; Single-pass type I membrane protein.
sequence:

opentargets:
extracellular space [GO:0005615]; integral component of plasma membrane [GO:0005887]; chemorepellent activity [GO:0045499]; semaphorin receptor binding [GO:0030215]; negative chemotaxis [GO:0050919]; negative regulation of axon extension involved in axon guidance [GO:0048843]; neural crest cell migration [GO:0001755]; positive regulation of cell migration [GO:0030335]; semaphorin-plexin signaling pathway [GO:0071526]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9H3T3-1; Sequence=Displayed; Name=2; IsoId=Q9H3T3-3; Sequence=VSP_047625, VSP_047626; 


uniprotID: Q7Z6J9
geneSymbol: TSEN54
reactome: R-HSA-6784531;
name: tRNA-splicing endonuclease subunit Sen54 (SEN54 homolog) (HsSEN54) (tRNA-intron endonuclease Sen54)
length: 526
go: ENSG00000182173;
snps: rs7216673 rs8079373 rs113994151 rs11559205 rs113994152 rs9911502 rs8064529 rs11870627
sequence:

opentargets:
nucleolus [GO:0005730]; nucleoplasm [GO:0005654]; tRNA-intron endonuclease complex [GO:0000214]; mRNA processing [GO:0006397]; RNA phosphodiester bond hydrolysis, endonucleolytic [GO:0090502]; tRNA splicing, via endonucleolytic cleavage and ligation [GO:0006388]; tRNA-type intron splice site recognition and cleavage [GO:0000379]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q7Z6J9-1; Sequence=Displayed; Name=2; IsoId=Q7Z6J9-2; Sequence=VSP_010988, VSP_010989; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000305}. Nucleus, nucleolus {ECO:0000305}. Note=May be transiently localized in the nucleolus. {ECO:0000305}.


uniprotID: Q8NFY4
geneSymbol: SEMA6D
reactome: R-HSA-416700;
name: Semaphorin-6D
length: 1073
go: ENSG00000137872;
snps: rs3743279 rs532598 rs16960074
sequence:

opentargets:
cell surface [GO:0009986]; cytoplasm [GO:0005737]; extracellular space [GO:0005615]; Golgi apparatus [GO:0005794]; integral component of plasma membrane [GO:0005887]; plasma membrane [GO:0005886]; chemorepellent activity [GO:0045499]; neuropilin binding [GO:0038191]; semaphorin receptor binding [GO:0030215]; negative chemotaxis [GO:0050919]; negative regulation of axon extension [GO:0030517]; negative regulation of axon extension involved in axon guidance [GO:0048843]; negative regulation of smooth muscle cell migration [GO:0014912]; neural crest cell migration [GO:0001755]; positive regulation of cell migration [GO:0030335]; positive regulation of smooth muscle cell migration [GO:0014911]; semaphorin-plexin signaling pathway [GO:0071526]; ventricular system development [GO:0021591]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=8;  Name=4; Synonyms=SEMA6D.4; IsoId=Q8NFY4-1; Sequence=Displayed; Name=1; Synonyms=SEMA6D.1; IsoId=Q8NFY4-2; Sequence=VSP_016565, VSP_016566; Name=2; Synonyms=SEMA6D.2; IsoId=Q8NFY4-3; Sequence=VSP_016566; Name=3; Synonyms=SEMA6D.3; IsoId=Q8NFY4-4; Sequence=VSP_016567; Name=5; IsoId=Q8NFY4-5; Sequence=VSP_016565, VSP_016567; Note=No experimental confirmation available.; Name=6; IsoId=Q8NFY4-6; Sequence=VSP_016572; Note=No experimental confirmation available.; Name=7; Synonyms=SEMA6Ds, Short; IsoId=Q8NFY4-7; Sequence=VSP_016564; Name=8; IsoId=Q8NFY4-8; Sequence=VSP_016572, VSP_054084; Note=No experimental confirmation available. Gene prediction based on mRNA data.; 

location:
SUBCELLULAR LOCATION: Isoform 1: Cell membrane; Single-pass type I membrane protein.; SUBCELLULAR LOCATION: Isoform 2: Cell membrane; Single-pass type I membrane protein.; SUBCELLULAR LOCATION: Isoform 3: Cell membrane; Single-pass type I membrane protein.; SUBCELLULAR LOCATION: Isoform 4: Cell membrane; Single-pass type I membrane protein.; SUBCELLULAR LOCATION: Isoform 5: Cell membrane; Single-pass type I membrane protein.; SUBCELLULAR LOCATION: Isoform 7: Cytoplasm.


uniprotID: O60613
geneSymbol: SELENOF
name: Selenoprotein F (15 kDa selenoprotein)
length: 165
go: ENSG00000183291;
opentargets: endoplasmic reticulum lumen [GO:0005788]; 'de novo' posttranslational protein folding [GO:0051084]
sequence:
MVAMAAGPSGCLVPAFGLRLLLATVLQAVSAFGAEFSSEACRELGFSSNLLCSSCDLLGQFNLLQLDPDCRGCCQEEAQFETKKLYAGAILEVCGUKLGRFPQVQAFVRSDKPKLFRGLQIKYVRGSDPVLKLLDDNGNIAEELSILKWNTDSVEEFLSEKLERI

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=O60613-1; Sequence=Displayed; Name=2; IsoId=O60613-2; Sequence=VSP_014695, VSP_014696; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Endoplasmic reticulum lumen {ECO:0000269|PubMed:11278576}. Note=The association with UGGT1/UGCGL1 is essential for its retention in the endoplasmic reticulum.


uniprotID: Q02383
geneSymbol: SEMG2
name: Semenogelin-2 (Semenogelin II) (SGII)
length: 582
go: ENSG00000124157;
snps: rs2233896 rs2233897 rs2233901 rs2233903 rs2071650
location: SUBCELLULAR LOCATION: Secreted.
sequence:

opentargets:
extracellular exosome [GO:0070062]; extracellular space [GO:0005615]; nucleus [GO:0005634]; metal ion binding [GO:0046872]; protease binding [GO:0002020]; antibacterial humoral response [GO:0019731]; coagulation [GO:0050817]; negative regulation of flagellated sperm motility [GO:1901318]; positive regulation of serine-type endopeptidase activity [GO:1900005]; protein heterooligomerization [GO:0051291]; sperm capacitation [GO:0048240]


uniprotID: Q9H4L4
geneSymbol: SENP3
reactome: R-HSA-6791226;
length: 574
go: ENSG00000161956;
snps: rs9972914
name:
Sentrin-specific protease 3 (EC 3.4.22.-) (SUMO-1-specific protease 3) (Sentrin/SUMO-specific protease SENP3)

sequence:

opentargets:
cytoplasm [GO:0005737]; MLL1 complex [GO:0071339]; nucleolus [GO:0005730]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; cysteine-type peptidase activity [GO:0008234]; protein desumoylation [GO:0016926]; rRNA processing [GO:0006364]

location:
SUBCELLULAR LOCATION: Nucleus, nucleolus {ECO:0000269|PubMed:19680224}. Nucleus, nucleoplasm {ECO:0000269|PubMed:19015314, ECO:0000269|PubMed:19680224}. Cytoplasm {ECO:0000250|UniProtKB:Q9EP97}. Note=Redistributes between the nucleolus and the nucleoplasm in response to mild oxidative stress (PubMed:19680224). Mainly found in the nucleoplasm, with low levels detected in the cytoplasmic and chromatin fractions (By similarity). {ECO:0000250|UniProtKB:Q9EP97, ECO:0000269|PubMed:19680224}.


uniprotID: Q9GZR1
geneSymbol: SENP6
length: 1112
go: ENSG00000112701;
snps: rs17414086 rs1061347 rs12195603 rs34045941 rs9250
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:16912044, ECO:0000269|PubMed:17000875}.
name:
Sentrin-specific protease 6 (EC 3.4.22.-) (SUMO-1-specific protease 1) (Sentrin/SUMO-specific protease SENP6)

sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; SUMO-specific endopeptidase activity [GO:0070139]; protein desumoylation [GO:0016926]; protein modification by small protein removal [GO:0070646]; protein sumoylation [GO:0016925]; regulation of kinetochore assembly [GO:0090234]; regulation of spindle assembly [GO:0090169]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9GZR1-1; Sequence=Displayed; Name=2; IsoId=Q9GZR1-2; Sequence=VSP_005274; Note=No experimental confirmation available.; 


uniprotID: Q16181
geneSymbol: SEPT7
reactome: R-HSA-5687128;
pdb: 2QAG;3T5D;3TW4;
name: Septin-7 (CDC10 protein homolog)
length: 437
sequence:

opentargets:
axoneme [GO:0005930]; cleavage furrow [GO:0032154]; condensed chromosome kinetochore [GO:0000777]; cytosol [GO:0005829]; extracellular exosome [GO:0070062]; microtubule cytoskeleton [GO:0015630]; midbody [GO:0030496]; non-motile cilium [GO:0097730]; nucleus [GO:0005634]; septin complex [GO:0031105]; septin filament array [GO:0032160]; septin ring [GO:0005940]; sperm annulus [GO:0097227]; spindle [GO:0005819]; stress fiber [GO:0001725]; cadherin binding [GO:0045296]; GTP binding [GO:0005525]; GTPase activity [GO:0003924]; identical protein binding [GO:0042802]; protein-containing complex scaffold activity [GO:0032947]; structural molecule activity [GO:0005198]; cell differentiation [GO:0030154]; cilium assembly [GO:0060271]; mitotic cytokinesis [GO:0000281]; positive regulation of non-motile cilium assembly [GO:1902857]; protein heterooligomerization [GO:0051291]; regulation of embryonic cell shape [GO:0016476]; septin ring assembly [GO:0000921]; spermatogenesis [GO:0007283]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q16181-1; Sequence=Displayed; Name=2; IsoId=Q16181-2; Sequence=VSP_022202; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:18460473}. Chromosome, centromere, kinetochore {ECO:0000269|PubMed:18460473}. Cytoplasm, cytoskeleton, spindle {ECO:0000269|PubMed:18460473}. Cleavage furrow {ECO:0000269|PubMed:18460473}. Midbody {ECO:0000269|PubMed:18460473}. Cytoplasm, cytoskeleton, cilium axoneme {ECO:0000250}. Cell projection, cilium, flagellum {ECO:0000269|PubMed:25588830}. Note=Distributed throughout the cytoplasm in prometaphase cells. Associated with the spindle during metaphase. Associated with the central spindle and at the cleavage furrow in anaphase cells. Detected at the midbody in telophase. Associated with actin stress fibers (By similarity). Found in the sperm annulus (PubMed:25588830). {ECO:0000250, ECO:0000269|PubMed:25588830}.


uniprotID: Q6SPF0
geneSymbol: SAMD1
name: Atherin (Sterile alpha motif domain-containing protein 1) (SAM domain-containing protein 1)
length: 538
opentargets: cytoplasm [GO:0005737]; extracellular region [GO:0005576]
snps: rs8062
sequence:

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:16159594}. Secreted {ECO:0000269|PubMed:16159594}.


uniprotID: Q8N6K7
geneSymbol: SAMD3
name: Sterile alpha motif domain-containing protein 3 (SAM domain-containing protein 3)
length: 520
go: ENSG00000164483;
snps: rs17852709 rs150968705
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q8N6K7-1; Sequence=Displayed; Name=2; IsoId=Q8N6K7-2; Sequence=VSP_023459, VSP_023460; Note=No experimental confirmation available.; Name=3; IsoId=Q8N6K7-3; Sequence=VSP_055738; 


uniprotID: Q7Z3H4
geneSymbol: SAMD7
name: Sterile alpha motif domain-containing protein 7 (SAM domain-containing protein 7)
length: 446
go: ENSG00000187033;
opentargets: cytoplasm [GO:0005737]; nucleus [GO:0005634]; negative regulation of gene expression [GO:0010629]
snps: rs10513680
sequence:

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000250|UniProtKB:Q8C8Y5}. Cytoplasm {ECO:0000250|UniProtKB:Q8C8Y5}.


uniprotID: Q96LT4
geneSymbol: SAMD8
reactome: R-HSA-1660661;
length: 415
go: ENSG00000156671;
name:
Sphingomyelin synthase-related protein 1 (SMSr) (EC 2.7.8.-) (Ceramide phosphoethanolamine synthase) (CPE synthase) (Sterile alpha motif domain-containing protein 8) (SAM domain-containing protein 8)

sequence:

opentargets:
cytosol [GO:0005829]; endoplasmic reticulum [GO:0005783]; endoplasmic reticulum membrane [GO:0005789]; integral component of endoplasmic reticulum membrane [GO:0030176]; integral component of Golgi membrane [GO:0030173]; integral component of membrane [GO:0016021]; integral component of plasma membrane [GO:0005887]; ceramide cholinephosphotransferase activity [GO:0047493]; ceramide phosphoethanolamine synthase activity [GO:0002950]; sphingomyelin synthase activity [GO:0033188]; ceramide biosynthetic process [GO:0046513]; ceramide phosphoethanolamine biosynthetic process [GO:1905373]; regulation of ceramide biosynthetic process [GO:2000303]; sphingolipid biosynthetic process [GO:0030148]; sphingomyelin biosynthetic process [GO:0006686]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q96LT4-1; Sequence=Displayed; Name=2; IsoId=Q96LT4-2; Sequence=VSP_038403, VSP_038404; 

location:
SUBCELLULAR LOCATION: Endoplasmic reticulum membrane {ECO:0000269|PubMed:19506037}; Multi-pass membrane protein {ECO:0000269|PubMed:19506037}.


uniprotID: Q8TEE9
geneSymbol: SAP25
length: 199
go: ENSG00000205307;
name:
Histone deacetylase complex subunit SAP25 (25 kDa Sin3-associated polypeptide) (Sin3 corepressor complex subunit SAP25)

sequence:
MTPLAPWDPKYEAKAGPRPVWGANCSSGASFSGRTLCHPSFWPLYEAASGRGLRPVAPATGHWNGQQAPPDAGFPVVCCEDVFLSDPLLPRGQRVPLYLSKAPQQMMGSLKLLPPPPIMSARVLPRPSPSRGPSTAWLSGPELIALTGLLQMSQGEPRPSSSAVGPPDHTSDPPSPCGSPSSSQGADLSLPQTPDTHCP

opentargets:
cytoplasm [GO:0005737]; nucleus [GO:0005634]; regulation of transcription, DNA-templated [GO:0006355]

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000250}. Cytoplasm {ECO:0000250}. Note=Shuttles between the nucleus and the cytoplasm. {ECO:0000250}.


uniprotID: P17900
geneSymbol: GM2A
reactome: R-HSA-1660662;R-HSA-6798695;
pdb: 1G13;1PU5;1PUB;1TJJ;2AF9;2AG2;2AG4;2AG9;
length: 193
go: ENSG00000196743;
drug: DB04660;DB02325;DB03017;DB03633;DB08231;DB02261;
snps: rs1048719 rs153477 rs153478 rs137852797 rs104893892
location: SUBCELLULAR LOCATION: Lysosome.
name:
Ganglioside GM2 activator (Cerebroside sulfate activator protein) (GM2-AP) (Sphingolipid activator protein 3) (SAP-3) [Cleaved into: Ganglioside GM2 activator isoform short]

sequence:
MQSLMQAPLLIALGLLLAAPAQAHLKKPSQLSSFSWDNCDEGKDPAVIRSLTLEPDPIIVPGNVTLSVMGSTSVPLSSPLKVDLVLEKEVAGLWIKIPCTDYIGSCTFEHFCDVLDMLIPTGEPCPEPLRTYGLPCHCPFKEGTYSLPKSEFVVPDLELPSWLTTGNYRIESVLSSSGKRLGCIKIAASLKGI

opentargets:
apical plasma membrane [GO:0016324]; azurophil granule lumen [GO:0035578]; basolateral plasma membrane [GO:0016323]; cytoplasmic side of plasma membrane [GO:0009898]; extracellular exosome [GO:0070062]; extracellular region [GO:0005576]; lysosomal lumen [GO:0043202]; beta-N-acetylgalactosaminidase activity [GO:0032428]; lipid transporter activity [GO:0005319]; phospholipase activator activity [GO:0016004]; sphingolipid activator protein activity [GO:0030290]; ganglioside catabolic process [GO:0006689]; glycosphingolipid metabolic process [GO:0006687]; learning or memory [GO:0007611]; lipid storage [GO:0019915]; neuromuscular process controlling balance [GO:0050885]; neutrophil degranulation [GO:0043312]; oligosaccharide catabolic process [GO:0009313]; positive regulation of hydrolase activity [GO:0051345]


uniprotID: Q9NSI8
geneSymbol: SAMSN1
pdb: 2KEA;
length: 373
go: ENSG00000155307;
snps: rs34607574
name:
SAM domain-containing protein SAMSN-1 (Hematopoietic adaptor containing SH3 and SAM domains 1) (Nash1) (SAM domain, SH3 domain and nuclear localization signals protein 1) (SH3-SAM adaptor protein)

sequence:

opentargets:
cytosol [GO:0005829]; nucleus [GO:0005634]; plasma membrane [GO:0005886]; ruffle [GO:0001726]; phosphotyrosine residue binding [GO:0001784]; RNA binding [GO:0003723]; negative regulation of adaptive immune response [GO:0002820]; negative regulation of B cell activation [GO:0050869]; negative regulation of peptidyl-tyrosine phosphorylation [GO:0050732]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q9NSI8-1; Sequence=Displayed; Name=2; Synonyms=b; IsoId=Q9NSI8-2; Sequence=VSP_008119; Name=3; IsoId=Q9NSI8-3; Sequence=VSP_008120; 

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:11594764}. Cytoplasm {ECO:0000250}. Cell projection, ruffle {ECO:0000250}. Note=Shuttles between cytoplasm and nucleus. Colocalizes with the actin cytoskeleton and actin-rich membrane ruffles (By similarity). {ECO:0000250}.


uniprotID: P02743
geneSymbol: APCS
reactome: R-HSA-977225;
pdb: 1GYK;1LGN;1SAC;2A3W;2A3X;2A3Y;2W08;3D5O;3KQR;4AVS;4AVT;4AVV;4AYU;
length: 223
go: ENSG00000132703;
location: SUBCELLULAR LOCATION: Secreted.
name:
Serum amyloid P-component (SAP) (9.5S alpha-1-glycoprotein) [Cleaved into: Serum amyloid P-component(1-203)]

sequence:

opentargets:
blood microparticle [GO:0072562]; collagen-containing extracellular matrix [GO:0062023]; extracellular exosome [GO:0070062]; extracellular region [GO:0005576]; extracellular space [GO:0005615]; nucleus [GO:0005634]; calcium ion binding [GO:0005509]; carbohydrate binding [GO:0030246]; complement component C1q binding [GO:0001849]; identical protein binding [GO:0042802]; low-density lipoprotein particle binding [GO:0030169]; unfolded protein binding [GO:0051082]; virion binding [GO:0046790]; acute-phase response [GO:0006953]; cellular protein metabolic process [GO:0044267]; chaperone-mediated protein complex assembly [GO:0051131]; complement activation, classical pathway [GO:0006958]; innate immune response [GO:0045087]; negative regulation by host of viral exo-alpha-sialidase activity [GO:0044869]; negative regulation by host of viral glycoprotein metabolic process [GO:0044871]; negative regulation of acute inflammatory response [GO:0002674]; negative regulation of exo-alpha-sialidase activity [GO:1903016]; negative regulation of glycoprotein metabolic process [GO:1903019]; negative regulation of monocyte differentiation [GO:0045656]; negative regulation of viral entry into host cell [GO:0046597]; negative regulation of viral process [GO:0048525]; negative regulation of wound healing [GO:0061045]; protein folding [GO:0006457]


uniprotID: Q5SSQ6
geneSymbol: SAPCD1
name: Suppressor APC domain-containing protein 1 (Protein G7d)
length: 148
go: ENSG00000228727;
snps: rs17201151 rs6905572
sequence:
MGSQGSGGVPLVQAPYTVLLLPLGTSRQDPGAQSFFLWLRRMQALEREQDALWQGLELLQHGQAWFEDHLREAQRQQLHLGALGENFLTDLHSEPGRPPLAQIQKVNICLQNLIHEKELSRQQKGVTQPKEEMAQRGCTKGPRGPTRV

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q5SSQ6-1; Sequence=Displayed; Name=2; IsoId=Q5SSQ6-2; Sequence=VSP_040223; 


uniprotID: Q86UD0
geneSymbol: SAPCD2
length: 394
go: ENSG00000186193;
name:
Suppressor APC domain-containing protein 2 (Tumor specificity and mitosis phase-dependent expression protein) (TS/MDEP) (p42.3)

sequence:

opentargets:
apical cortex [GO:0045179]; apical junction complex [GO:0043296]; apical plasma membrane [GO:0016324]; bicellular tight junction [GO:0005923]; cytosol [GO:0005829]; nucleolus [GO:0005730]; nucleus [GO:0005634]; establishment of mitotic spindle orientation [GO:0000132]; negative regulation of protein localization to cell cortex [GO:1904777]; positive regulation of cell proliferation [GO:0008284]; regulation of establishment of planar polarity [GO:0090175]; symmetric cell division [GO:0098725]

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:17525738}. Nucleus {ECO:0000269|PubMed:17525738}. Cytoplasm, cell cortex {ECO:0000269|PubMed:26766442}. Apical cell membrane {ECO:0000250|UniProtKB:Q9D818}. Cell junction, tight junction {ECO:0000269|PubMed:26766442}. Note=Localized at the apical cortical region during the M phase. In horizontally retinal progenitor dividing cells, localized at the pole cortical region from prophase to telophase cells. In vertically retinal progenitor dividing cells, not detected at the pole cortical region at any stage of mitosis. {ECO:0000250|UniProtKB:Q9D818}.


uniprotID: O94885
geneSymbol: SASH1
pdb: 2DL0;2EBP;
name: SAM and SH3 domain-containing protein 1 (Proline-glutamate repeat-containing protein)
length: 1247
go: ENSG00000111961;
snps: rs35078400 rs208696
sequence:

opentargets:
protein-containing complex [GO:0032991]; mitogen-activated protein kinase kinase kinase binding [GO:0031435]; protein C-terminus binding [GO:0008022]; protein kinase binding [GO:0019901]; protein-containing complex scaffold activity [GO:0032947]; positive regulation of angiogenesis [GO:0045766]; positive regulation of endothelial cell migration [GO:0010595]; positive regulation of JUN kinase activity [GO:0043507]; positive regulation of lipopolysaccharide-mediated signaling pathway [GO:0031666]; positive regulation of NIK/NF-kappaB signaling [GO:1901224]; positive regulation of p38MAPK cascade [GO:1900745]; protein polyubiquitination [GO:0000209]; regulation of protein autoubiquitination [GO:1902498]; regulation of protein K63-linked ubiquitination [GO:1900044]


uniprotID: P21673
geneSymbol: SAT1
reactome: R-HSA-351200;
pdb: 2B3U;2B3V;2B4B;2B4D;2B58;2B5G;2F5I;2FXF;2G3T;2JEV;
length: 171
go: ENSG00000130066;
drug: DB00127;
location: SUBCELLULAR LOCATION: Cytoplasm.
name:
Diamine acetyltransferase 1 (EC 2.3.1.57) (Polyamine N-acetyltransferase 1) (Putrescine acetyltransferase) (Spermidine/spermine N(1)-acetyltransferase 1) (SSAT) (SSAT-1)

sequence:
MAKFVIRPATAADCSDILRLIKELAKYEYMEEQVILTEKDLLEDGFGEHPFYHCLVAEVPKEHWTPEGHSIVGFAMYYFTYDPWIGKLLYLEDFFVMSDYRGFGIGSEILKNLSQVAMRCRCSSMHFLVAEWNEPSINFYKRRGASDLSSEEGWRLFKIDKEYLLKMATEE

opentargets:
cytosol [GO:0005829]; intracellular [GO:0005622]; diamine N-acetyltransferase activity [GO:0004145]; identical protein binding [GO:0042802]; N-acetyltransferase activity [GO:0008080]; spermidine binding [GO:0019809]; angiogenesis [GO:0001525]; polyamine biosynthetic process [GO:0006596]; putrescine catabolic process [GO:0009447]; regulation of cell proliferation [GO:0042127]; spermidine acetylation [GO:0032918]


uniprotID: Q8IYX7
geneSymbol: SAXO1
name: Stabilizer of axonemal microtubules 1
length: 474
go: ENSG00000155875;
snps: rs7021572 rs6475273 rs34119945
sequence:

opentargets:
axonemal microtubule [GO:0005879]; centriole [GO:0005814]; ciliary basal body [GO:0036064]; cytoskeleton [GO:0005856]; motile cilium [GO:0031514]; sperm flagellum [GO:0036126]; microtubule binding [GO:0008017]; cell projection organization [GO:0030030]; cellular response to cold [GO:0070417]; cold acclimation [GO:0009631]; microtubule anchoring [GO:0034453]; positive regulation of cilium assembly [GO:0045724]; protein stabilization [GO:0050821]

location:
SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton, microtubule organizing center, centrosome, centriole {ECO:0000269|PubMed:25673876}. Cytoplasm, cytoskeleton, cilium basal body {ECO:0000269|PubMed:25673876}. Cytoplasm, cytoskeleton, cilium axoneme {ECO:0000269|PubMed:25673876}. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome {ECO:0000269|PubMed:25673876}. Cytoplasm, cytoskeleton, flagellum axoneme {ECO:0000269|PubMed:25673876}. Note=In multi-ciliated cells, localizes to the basal bodies and in non-ciliated cells, to the centrosome. In spermatozoa, colocalizes with microtubules along the length of the axoneme from its proximal end to its distal tip and with tubulin at the distal end of the flagellum and at the proximal centriole. {ECO:0000269|PubMed:25673876}.


uniprotID: Q658L1
geneSymbol: SAXO2
name: Stabilizer of axonemal microtubules 2
length: 398
go: ENSG00000188659;
snps: rs11631813 rs16973457 rs11630197
sequence:

opentargets:
axonemal microtubule [GO:0005879]; centriole [GO:0005814]; ciliary basal body [GO:0036064]; cytoskeleton [GO:0005856]; motile cilium [GO:0031514]; sperm flagellum [GO:0036126]; microtubule binding [GO:0008017]; microtubule anchoring [GO:0034453]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q658L1-1; Sequence=Displayed; Name=2; IsoId=Q658L1-2; Sequence=VSP_055086; Note=No experimental confirmation available.; 


uniprotID: Q01826
geneSymbol: SATB1
reactome: R-HSA-111465;R-HSA-4551638;
pdb: 1YSE;2L1P;2MW8;2O49;2O4A;3NZL;3TUO;
name: DNA-binding protein SATB1 (Special AT-rich sequence-binding protein 1)
length: 763
go: ENSG00000182568;
sequence:

opentargets:
nuclear body [GO:0016604]; nuclear heterochromatin [GO:0005720]; nuclear matrix [GO:0016363]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; PML body [GO:0016605]; chromatin binding [GO:0003682]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; DNA-binding transcription repressor activity, RNA polymerase II-specific [GO:0001227]; double-stranded DNA binding [GO:0003690]; RNA polymerase II regulatory region sequence-specific DNA binding [GO:0000977]; sequence-specific DNA binding [GO:0043565]; activated T cell proliferation [GO:0050798]; CD4-positive, alpha-beta T cell differentiation [GO:0043367]; CD8-positive, alpha-beta T cell differentiation [GO:0043374]; chromatin organization [GO:0006325]; chromatin remodeling [GO:0006338]; epidermis development [GO:0008544]; histone methylation [GO:0016571]; negative regulation of transcription by RNA polymerase II [GO:0000122]; reflex [GO:0060004]; viral process [GO:0016032]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q01826-1; Sequence=Displayed; Name=2; IsoId=Q01826-2; Sequence=VSP_038296; 

location:
SUBCELLULAR LOCATION: Nucleus matrix. Nucleus, PML body. Note=Organized into a cage-like network anchoring loops of heterochromatin and tethering specialized DNA sequences. When sumoylated, localized in promyelocytic leukemia nuclear bodies (PML NBs).


uniprotID: P0C264
geneSymbol: SBK3
length: 359
go: ENSG00000231274;
opentargets: ATP binding [GO:0005524]; protein serine/threonine kinase activity [GO:0004674]
name:
Uncharacterized serine/threonine-protein kinase SBK3 (EC 2.7.11.1) (SH3-binding domain kinase family member 3) (Sugen kinase 110)

sequence:


uniprotID: Q86VE3
geneSymbol: SATL1
name: Spermidine/spermine N(1)-acetyltransferase-like protein 1 (EC 2.3.1.-)
length: 508
go: ENSG00000184788;
snps: rs10126146
sequence:

opentargets:
cytosol [GO:0005829]; diamine N-acetyltransferase activity [GO:0004145]; N-acetyltransferase activity [GO:0008080]; spermidine binding [GO:0019809]; spermidine acetylation [GO:0032918]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q86VE3-1; Sequence=Displayed; Name=2; IsoId=Q86VE3-2; Sequence=VSP_024253, VSP_024254; Name=3; IsoId=Q86VE3-3; Sequence=VSP_055674, VSP_024253, VSP_024254; Note=No experimental confirmation available.; 


uniprotID: Q8IVN8
geneSymbol: SBSPON
reactome: R-HSA-5083635;R-HSA-5173214;
name: Somatomedin-B and thrombospondin type-1 domain-containing protein (RPE-spondin)
length: 264
go: ENSG00000164764;
snps: rs59331088 rs2291219
sequence:

opentargets:
collagen-containing extracellular matrix [GO:0062023]; extracellular matrix structural constituent [GO:0005201]; polysaccharide binding [GO:0030247]; scavenger receptor activity [GO:0005044]; immune response [GO:0006955]

location:
SUBCELLULAR LOCATION: Secreted, extracellular space, extracellular matrix {ECO:0000269|PubMed:20551380}.


uniprotID: P67812
geneSymbol: SEC11A
reactome: R-HSA-1799339;R-HSA-381771;R-HSA-400511;R-HSA-422085;
length: 179
go: ENSG00000140612;
name:
Signal peptidase complex catalytic subunit SEC11A (EC 3.4.21.89) (Endopeptidase SP18) (Microsomal signal peptidase 18 kDa subunit) (SPase 18 kDa subunit) (SEC11 homolog A) (SEC11-like protein 1) (SPC18)

sequence:
MLSLDFLDDVRRMNKRQLYYQVLNFGMIVSSALMIWKGLMVITGSESPIVVVLSGSMEPAFHRGDLLFLTNRVEDPIRVGEIVVFRIEGREIPIVHRVLKIHEKQNGHIKFLTKGDNNAVDDRGLYKQGQHWLEKKDVVGRARGFVPYIGIVTILMNDYPKFKYAVLFLLGLFVLVHRE

opentargets:
endoplasmic reticulum membrane [GO:0005789]; integral component of membrane [GO:0016021]; organelle membrane [GO:0031090]; signal peptidase complex [GO:0005787]; peptidase activity [GO:0008233]; serine-type peptidase activity [GO:0008236]; signal peptide processing [GO:0006465]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=P67812-1; Sequence=Displayed; Name=2; IsoId=P67812-2; Sequence=VSP_055052; Note=No experimental confirmation available.; Name=3; IsoId=P67812-3; Sequence=VSP_055053; Note=No experimental confirmation available. Gene prediction based on EST data.; Name=4; IsoId=P67812-4; Sequence=VSP_055054, VSP_055055; Note=No experimental confirmation available. Gene prediction based on EST data.; 

location:
SUBCELLULAR LOCATION: Microsome membrane {ECO:0000250}; Single-pass type II membrane protein {ECO:0000250}. Endoplasmic reticulum membrane {ECO:0000250}; Single-pass type II membrane protein {ECO:0000250}.


uniprotID: Q9BY50
geneSymbol: SEC11C
reactome: R-HSA-1799339;R-HSA-381771;R-HSA-400511;R-HSA-422085;
length: 192
go: ENSG00000166562;
name:
Signal peptidase complex catalytic subunit SEC11C (EC 3.4.21.89) (Microsomal signal peptidase 21 kDa subunit) (SPase 21 kDa subunit) (SEC11 homolog C) (SEC11-like protein 3) (SPC21)

sequence:
MVRAGAVGAHLPASGLDIFGDLKKMNKRQLYYQVLNFAMIVSSALMIWKGLIVLTGSESPIVVVLSGSMEPAFHRGDLLFLTNFREDPIRAGEIVVFKVEGRDIPIVHRVIKVHEKDNGDIKFLTKGDNNEVDDRGLYKEGQNWLEKKDVVGRARGFLPYVGMVTIIMNDYPKFKYALLAVMGAYVLLKRES

opentargets:
endoplasmic reticulum membrane [GO:0005789]; integral component of membrane [GO:0016021]; organelle membrane [GO:0031090]; signal peptidase complex [GO:0005787]; peptidase activity [GO:0008233]; serine-type peptidase activity [GO:0008236]; signal peptide processing [GO:0006465]

location:
SUBCELLULAR LOCATION: Microsome membrane {ECO:0000250}; Single-pass type II membrane protein {ECO:0000250}. Endoplasmic reticulum membrane {ECO:0000250}; Single-pass type II membrane protein {ECO:0000250}.


uniprotID: Q15436
geneSymbol: SEC23A
reactome: R-HSA-1655829;R-HSA-204005;R-HSA-2132295;R-HSA-5694530;R-HSA-983170;
name: Protein transport protein Sec23A (hSec23A) (SEC23-related protein A)
length: 765
go: ENSG00000100934;
snps: rs8018720 rs118204000
pdb:
2NUP;2NUT;2YRC;2YRD;3EFO;3EG9;3EGD;3EGX;5KYN;5KYU;5KYW;5KYX;5KYY;5VNE;5VNF;5VNG;5VNH;5VNI;5VNJ;5VNK;5VNL;5VNM;5VNN;5VNO;

sequence:

opentargets:
COPII vesicle coat [GO:0030127]; cytosol [GO:0005829]; endoplasmic reticulum [GO:0005783]; endoplasmic reticulum exit site [GO:0070971]; endoplasmic reticulum membrane [GO:0005789]; ER to Golgi transport vesicle membrane [GO:0012507]; extrinsic component of membrane [GO:0019898]; Golgi membrane [GO:0000139]; perinuclear region of cytoplasm [GO:0048471]; GTPase activator activity [GO:0005096]; zinc ion binding [GO:0008270]; antigen processing and presentation of exogenous peptide antigen via MHC class II [GO:0019886]; antigen processing and presentation of peptide antigen via MHC class I [GO:0002474]; cargo loading into COPII-coated vesicle [GO:0090110]; COPII vesicle coating [GO:0048208]; ER to Golgi vesicle-mediated transport [GO:0006888]; Golgi organization [GO:0007030]; intracellular protein transport [GO:0006886]; macroautophagy [GO:0016236]; protein localization to plasma membrane [GO:0072659]; regulation of cell shape [GO:0008360]; regulation of COPII vesicle coating [GO:0003400]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q15436-1; Sequence=Displayed; Name=2; IsoId=Q15436-2; Sequence=VSP_056230; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasmic vesicle, COPII-coated vesicle membrane {ECO:0000305|PubMed:8898360}; Peripheral membrane protein {ECO:0000269|PubMed:8898360}; Cytoplasmic side {ECO:0000269|PubMed:8898360}. Endoplasmic reticulum membrane {ECO:0000269|PubMed:8898360}; Peripheral membrane protein {ECO:0000269|PubMed:8898360}; Cytoplasmic side {ECO:0000269|PubMed:8898360}. Cytoplasm, cytosol {ECO:0000269|PubMed:8898360}. Note=Enriched at endoplasmic reticulum exit sites, also known as transitional endoplasmic reticulum (tER). {ECO:0000269|PubMed:28442536, ECO:0000269|PubMed:8898360}.


uniprotID: O95486
geneSymbol: SEC24A
reactome: R-HSA-1655829;R-HSA-204005;R-HSA-2132295;R-HSA-5694530;R-HSA-983170;
pdb: 2NUP;2NUT;3EGD;3EGX;5VNE;5VNF;5VNG;5VNH;5VNI;5VNJ;5VNK;5VNL;5VNM;5VNN;5VNO;
name: Protein transport protein Sec24A (SEC24-related protein A)
length: 1093
go: ENSG00000113615;
snps: rs7718102 rs17851746 rs17851745
sequence:

opentargets:
COPII vesicle coat [GO:0030127]; cytosol [GO:0005829]; endoplasmic reticulum membrane [GO:0005789]; ER to Golgi transport vesicle membrane [GO:0012507]; Golgi membrane [GO:0000139]; zinc ion binding [GO:0008270]; antigen processing and presentation of exogenous peptide antigen via MHC class II [GO:0019886]; antigen processing and presentation of peptide antigen via MHC class I [GO:0002474]; cargo loading into COPII-coated vesicle [GO:0090110]; cholesterol homeostasis [GO:0042632]; COPII vesicle coating [GO:0048208]; ER to Golgi vesicle-mediated transport [GO:0006888]; intracellular protein transport [GO:0006886]; positive regulation of protein secretion [GO:0050714]; regulation of low-density lipoprotein particle receptor biosynthetic process [GO:0045714]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=O95486-1; Sequence=Displayed; Name=2; IsoId=O95486-2; Sequence=VSP_029571, VSP_029572; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasmic vesicle, COPII-coated vesicle membrane {ECO:0000305|PubMed:17499046}; Peripheral membrane protein {ECO:0000305|PubMed:17499046}; Cytoplasmic side {ECO:0000305|PubMed:17499046}. Endoplasmic reticulum membrane {ECO:0000305|PubMed:17499046}; Peripheral membrane protein {ECO:0000305|PubMed:17499046}; Cytoplasmic side {ECO:0000305|PubMed:17499046}. Cytoplasm, cytosol {ECO:0000305|PubMed:17499046}.


uniprotID: P31639
geneSymbol: SLC5A2
reactome: R-HSA-189200;R-HSA-5658208;
length: 672
go: ENSG00000140675;
drug: DB08907;DB06292;DB09038;
snps: rs61742739
location: SUBCELLULAR LOCATION: Membrane; Multi-pass membrane protein.
name:
Sodium/glucose cotransporter 2 (Na(+)/glucose cotransporter 2) (Low affinity sodium-glucose cotransporter) (Solute carrier family 5 member 2)

sequence:

opentargets:
extracellular exosome [GO:0070062]; integral component of membrane [GO:0016021]; plasma membrane [GO:0005886]; glucose:sodium symporter activity [GO:0005412]; low-affinity glucose:sodium symporter activity [GO:0005362]; carbohydrate metabolic process [GO:0005975]; hexose transmembrane transport [GO:0008645]; sodium ion transport [GO:0006814]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P31639-1; Sequence=Displayed; Name=2; IsoId=P31639-2; Sequence=VSP_056333, VSP_056334; Note=No experimental confirmation available.; 


uniprotID: P53794
geneSymbol: SLC5A3
reactome: R-HSA-429593;
length: 718
snps: rs8129891 rs4817617
location: SUBCELLULAR LOCATION: Membrane; Multi-pass membrane protein.
name:
Sodium/myo-inositol cotransporter (Na(+)/myo-inositol cotransporter) (Sodium/myo-inositol transporter 1) (SMIT1) (Solute carrier family 5 member 3)

sequence:

opentargets:
integral component of membrane [GO:0016021]; integral component of plasma membrane [GO:0005887]; plasma membrane [GO:0005886]; myo-inositol:sodium symporter activity [GO:0005367]; inositol metabolic process [GO:0006020]; myo-inositol transport [GO:0015798]; peripheral nervous system development [GO:0007422]; regulation of respiratory gaseous exchange [GO:0043576]


uniprotID: Q92911
geneSymbol: SLC5A5
reactome: R-HSA-209968;R-HSA-428643;R-HSA-5619096;
length: 643
go: ENSG00000105641;
snps: rs121909178 rs121909176 rs8108188 rs121909174 rs121909180 rs121909179
location: SUBCELLULAR LOCATION: Membrane; Multi-pass membrane protein.
name:
Sodium/iodide cotransporter (Na(+)/I(-) cotransporter) (Sodium-iodide symporter) (Na(+)/I(-) symporter) (Solute carrier family 5 member 5)

sequence:

opentargets:
extracellular exosome [GO:0070062]; extracellular vesicle [GO:1903561]; integral component of membrane [GO:0016021]; nucleus [GO:0005634]; plasma membrane [GO:0005886]; iodide transmembrane transporter activity [GO:0015111]; sodium:iodide symporter activity [GO:0008507]; cellular response to cAMP [GO:0071320]; cellular response to gonadotropin stimulus [GO:0071371]; iodide transport [GO:0015705]; ion transport [GO:0006811]; thyroid hormone generation [GO:0006590]


uniprotID: Q9GZV3
geneSymbol: SLC5A7
reactome: R-HSA-264642;R-HSA-425366;R-HSA-5619114;R-HSA-5658471;
length: 580
go: ENSG00000115665;
drug: DB00122;
snps: rs886039768 rs886039765 rs1013940 rs886039766 rs375397889 rs147656110
name:
High affinity choline transporter 1 (Hemicholinium-3-sensitive choline transporter) (CHT) (Solute carrier family 5 member 7)

sequence:

opentargets:
axon [GO:0030424]; cell junction [GO:0030054]; dendrite [GO:0030425]; integral component of membrane [GO:0016021]; neuromuscular junction [GO:0031594]; perikaryon [GO:0043204]; plasma membrane [GO:0005886]; presynapse [GO:0098793]; synapse [GO:0045202]; choline binding [GO:0033265]; choline transmembrane transporter activity [GO:0015220]; choline:sodium symporter activity [GO:0005307]; acetylcholine biosynthetic process [GO:0008292]; choline transport [GO:0015871]; neuromuscular synaptic transmission [GO:0007274]; neurotransmitter secretion [GO:0007269]; synaptic transmission, cholinergic [GO:0007271]; transmembrane transport [GO:0055085]

location:
SUBCELLULAR LOCATION: Membrane {ECO:0000269|PubMed:11027560}; Multi-pass membrane protein {ECO:0000269|PubMed:11027560}. Cell membrane {ECO:0000269|PubMed:27569547}. Cell junction, synapse {ECO:0000269|PubMed:27569547}. Note=Localized at the neuromuscular junction. {ECO:0000269|PubMed:27569547}.


uniprotID: Q8N695
geneSymbol: SLC5A8
reactome: R-HSA-197264;R-HSA-428643;
length: 610
go: ENSG00000256870;
drug: DB01762;DB08872;DB00627;
snps: rs1709189 rs11834933
name:
Sodium-coupled monocarboxylate transporter 1 (Apical iodide transporter) (Electrogenic sodium monocarboxylate cotransporter) (Sodium iodide-related cotransporter) (Solute carrier family 5 member 8)

sequence:

opentargets:
apical plasma membrane [GO:0016324]; extracellular exosome [GO:0070062]; integral component of membrane [GO:0016021]; plasma membrane [GO:0005886]; lactate transmembrane transporter activity [GO:0015129]; monocarboxylate:sodium symporter activity [GO:0140161]; monocarboxylic acid transmembrane transporter activity [GO:0008028]; passive transmembrane transporter activity [GO:0022803]; propionate transmembrane transporter activity [GO:0015552]; apoptotic process [GO:0006915]; ion transport [GO:0006811]; NAD biosynthesis via nicotinamide riboside salvage pathway [GO:0034356]; short-chain fatty acid import [GO:0015913]

location:
SUBCELLULAR LOCATION: Apical cell membrane {ECO:0000269|PubMed:12107270, ECO:0000269|PubMed:15001644, ECO:0000269|PubMed:17245649}; Multi-pass membrane protein {ECO:0000269|PubMed:12107270, ECO:0000269|PubMed:15001644, ECO:0000269|PubMed:17245649}. Note=Expressed at the apical membrane of normal tall thyrocytes and of colonic epithelial cells. {ECO:0000269|PubMed:12107270, ECO:0000269|PubMed:15001644, ECO:0000269|PubMed:17245649}.


uniprotID: O75845
geneSymbol: SC5D
reactome: R-HSA-2426168;R-HSA-6807047;R-HSA-6807062;
length: 299
go: ENSG00000109929;
snps: rs104894295 rs104894297 rs104894296
name:
Lathosterol oxidase (EC 1.14.19.20) (C-5 sterol desaturase) (Delta(7)-sterol 5-desaturase) (Delta(7)-sterol C5(6)-desaturase) (Lathosterol 5-desaturase) (Sterol-C5-desaturase)

sequence:

opentargets:
endoplasmic reticulum membrane [GO:0005789]; integral component of membrane [GO:0016021]; C-5 sterol desaturase activity [GO:0000248]; iron ion binding [GO:0005506]; cholesterol biosynthetic process via desmosterol [GO:0033489]; cholesterol biosynthetic process via lathosterol [GO:0033490]; lipid metabolic process [GO:0006629]; regulation of cholesterol biosynthetic process [GO:0045540]; sterol biosynthetic process [GO:0016126]


uniprotID: Q2M3M2
geneSymbol: SLC5A9
reactome: R-HSA-189200;
length: 681
go: ENSG00000117834;
snps: rs141515954 rs212989 rs12047252 rs212991
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Multi-pass membrane protein {ECO:0000305}.
name:
Sodium/glucose cotransporter 4 (Na(+)/glucose cotransporter 4) (hSGLT4) (Solute carrier family 5 member 9)

sequence:

opentargets:
extracellular exosome [GO:0070062]; integral component of membrane [GO:0016021]; plasma membrane [GO:0005886]; low-affinity glucose:sodium symporter activity [GO:0005362]; hexose transmembrane transport [GO:0008645]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q2M3M2-1; Sequence=Displayed; Name=2; IsoId=Q2M3M2-2; Sequence=VSP_044577; Note=No experimental confirmation available.; Name=3; IsoId=Q2M3M2-3; Sequence=VSP_057168; Note=No experimental confirmation available.; 


uniprotID: P30531
geneSymbol: SLC6A1
reactome: R-HSA-442660;R-HSA-888593;
name: Sodium- and chloride-dependent GABA transporter 1 (GAT-1) (Solute carrier family 6 member 1)
length: 599
go: ENSG00000157103;
drug: DB00349;DB08848;DB00906;
snps: rs794726859 rs794726860 rs876657400 rs749240316 rs17855574
sequence:

opentargets:
axon [GO:0030424]; cell surface [GO:0009986]; GABA-ergic synapse [GO:0098982]; integral component of membrane [GO:0016021]; integral component of postsynaptic membrane [GO:0099055]; integral component of presynaptic membrane [GO:0099056]; membrane [GO:0016020]; neuron projection [GO:0043005]; plasma membrane [GO:0005886]; gamma-aminobutyric acid:sodium symporter activity [GO:0005332]; metal ion binding [GO:0046872]; neurotransmitter binding [GO:0042165]; chemical synaptic transmission [GO:0007268]; gamma-aminobutyric acid import [GO:0051939]; learning [GO:0007612]; negative regulation of synaptic transmission, GABAergic [GO:0032229]; positive regulation of gamma-aminobutyric acid secretion [GO:0014054]; protein homooligomerization [GO:0051260]; response to calcium ion [GO:0051592]; response to cocaine [GO:0042220]; response to estradiol [GO:0032355]; response to lead ion [GO:0010288]; response to purine-containing compound [GO:0014074]; response to sucrose [GO:0009744]; response to toxic substance [GO:0009636]

location:
SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein. Membrane; Multi-pass membrane protein. Note=Localized at the plasma membrane and in a subset of intracellular vesicles. Localized at the presynaptic terminals of interneurons (By similarity). {ECO:0000250}.


uniprotID: P60059
geneSymbol: SEC61G
reactome: R-HSA-1236974;R-HSA-1799339;R-HSA-381038;
name: Protein transport protein Sec61 subunit gamma
sequence: MDQVMQFVEPSRQFVKDSIRLVKRCTKPDRKEFQKIAMATAIGFAIMGFIGFFVKLIHIPINNIIVGG
length: 68
go: ENSG00000132432;
opentargets:
cytosol [GO:0005829]; endoplasmic reticulum membrane [GO:0005789]; integral component of membrane [GO:0016021]; membrane [GO:0016020]; P-P-bond-hydrolysis-driven protein transmembrane transporter activity [GO:0015450]; protein transporter activity [GO:0008565]; protein targeting to ER [GO:0045047]

location:
SUBCELLULAR LOCATION: Endoplasmic reticulum membrane {ECO:0000250}; Single-pass membrane protein {ECO:0000250}.


uniprotID: P31641
geneSymbol: SLC6A6
reactome: R-HSA-352230;R-HSA-442660;
name: Sodium- and chloride-dependent taurine transporter (Solute carrier family 6 member 6)
length: 620
go: ENSG00000131389;
snps: rs1042350 rs1042351
location: SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein.
sequence:

opentargets:
integral component of membrane [GO:0016021]; integral component of plasma membrane [GO:0005887]; plasma membrane [GO:0005886]; amino acid transmembrane transporter activity [GO:0015171]; neurotransmitter:sodium symporter activity [GO:0005328]; taurine:sodium symporter activity [GO:0005369]; amino acid transport [GO:0006865]; cellular amino acid metabolic process [GO:0006520]; taurine transport [GO:0015734]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P31641-1; Sequence=Displayed; Name=2; IsoId=P31641-2; Sequence=VSP_044961; Note=No experimental confirmation available.; 


uniprotID: Q8N9R8
geneSymbol: SCAI
reactome: R-HSA-5663220;
name: Protein SCAI (Suppressor of cancer cell invasion protein)
length: 606
go: ENSG00000173611;
snps: rs589292
sequence:

opentargets:
cytoplasm [GO:0005737]; integral component of membrane [GO:0016021]; nuclear membrane [GO:0031965]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; transcription corepressor activity [GO:0003714]; negative regulation of cell migration [GO:0030336]; negative regulation of Rho protein signal transduction [GO:0035024]; transcription, DNA-templated [GO:0006351]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q8N9R8-1; Sequence=Displayed; Name=2; IsoId=Q8N9R8-2; Sequence=VSP_015120; 

location:
SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Single-pass membrane protein {ECO:0000305}. Nucleus {ECO:0000269|PubMed:19350017}. Cytoplasm {ECO:0000269|PubMed:19350017}. Note=Nuclear localization is required for inhibition of MRTFA. {ECO:0000250}.


uniprotID: P48029
geneSymbol: SLC6A8
reactome: R-HSA-71288;
length: 635
go: ENSG00000130821;
drug: DB00148;
location: SUBCELLULAR LOCATION: Membrane; Multi-pass membrane protein.
name:
Sodium- and chloride-dependent creatine transporter 1 (CT1) (Creatine transporter 1) (Solute carrier family 6 member 8)

sequence:

opentargets:
integral component of membrane [GO:0016021]; integral component of plasma membrane [GO:0005887]; plasma membrane [GO:0005886]; choline transmembrane transporter activity [GO:0015220]; creatine transmembrane transporter activity [GO:0005308]; creatine:sodium symporter activity [GO:0005309]; neurotransmitter:sodium symporter activity [GO:0005328]; creatine metabolic process [GO:0006600]; creatine transmembrane transport [GO:0015881]; muscle contraction [GO:0006936]

snps:
rs122453115 rs122453117 rs642454 rs372601430 rs146985734 rs376937460 rs144678921 rs373953317 rs122453116 rs122453114 rs122453118 rs782354054 rs199635059 rs372567920 rs397515559 rs145438966 rs201044530 rs146949376 rs368555229 rs781899045 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; Synonyms=CRT1; IsoId=P48029-1; Sequence=Displayed; Name=2; Synonyms=CRT2, SLC6A8B; IsoId=P48029-2; Sequence=VSP_043917, VSP_043918, VSP_043919, VSP_043920; Name=3; Synonyms=SLC6A8C; IsoId=P48029-3; Sequence=VSP_043916; Name=4; IsoId=P48029-4; Sequence=VSP_046316; Note=No experimental confirmation available.; 


uniprotID: Q86SK9
geneSymbol: SCD5
reactome: R-HSA-75105;
length: 330
go: ENSG00000145284;
name:
Stearoyl-CoA desaturase 5 (EC 1.14.19.1) (Acyl-CoA-desaturase 4) (HSCD5) (Stearoyl-CoA 9-desaturase) (Stearoyl-CoA desaturase 2)

sequence:

opentargets:
endoplasmic reticulum membrane [GO:0005789]; integral component of membrane [GO:0016021]; iron ion binding [GO:0005506]; oxidoreductase activity [GO:0016491]; stearoyl-CoA 9-desaturase activity [GO:0004768]; fatty-acyl-CoA biosynthetic process [GO:0046949]; monounsaturated fatty acid biosynthetic process [GO:1903966]; unsaturated fatty acid biosynthetic process [GO:0006636]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q86SK9-1; Sequence=Displayed; Name=2; IsoId=Q86SK9-2; Sequence=VSP_029883; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Endoplasmic reticulum membrane {ECO:0000269|PubMed:15907797}; Multi-pass membrane protein {ECO:0000269|PubMed:15907797}.


uniprotID: A0A286YEX9
geneSymbol: SCYGR10
sequence: MGCCGCGGCGGRCSGGCGGGCGGGCGGGCGGGCGGCGGGCGSYTTCR
length: 47
opentargets: intermediate filament [GO:0005882]
name:
Small cysteine and glycine repeat-containing protein 10 (Keratin-associated protein 28 family pseudogene 2)


uniprotID: P21583
geneSymbol: KITLG
reactome: R-HSA-1257604;R-HSA-1433557;R-HSA-1433559;R-HSA-2219530;R-HSA-5673001;R-HSA-6811558;
pdb: 1EXZ;1SCF;2E9W;
length: 273
go: ENSG00000049130;
snps: rs121918653 rs3741457 rs864309655 rs41283112 rs12721563
name:
Kit ligand (Mast cell growth factor) (MGF) (Stem cell factor) (SCF) (c-Kit ligand) [Cleaved into: Soluble KIT ligand (sKITLG)]

sequence:

opentargets:
cytoplasm [GO:0005737]; cytoskeleton [GO:0005856]; extracellular region [GO:0005576]; extracellular space [GO:0005615]; filopodium [GO:0030175]; integral component of membrane [GO:0016021]; lamellipodium [GO:0030027]; plasma membrane [GO:0005886]; cytokine activity [GO:0005125]; growth factor activity [GO:0008083]; phosphatidylinositol-4,5-bisphosphate 3-kinase activity [GO:0046934]; Ras guanyl-nucleotide exchange factor activity [GO:0005088]; stem cell factor receptor binding [GO:0005173]; cell adhesion [GO:0007155]; cell proliferation [GO:0008283]; ectopic germ cell programmed cell death [GO:0035234]; embryonic hemopoiesis [GO:0035162]; extrinsic apoptotic signaling pathway in absence of ligand [GO:0097192]; male gonad development [GO:0008584]; MAPK cascade [GO:0000165]; negative regulation of mast cell apoptotic process [GO:0033026]; neural crest cell migration [GO:0001755]; ovarian follicle development [GO:0001541]; positive regulation of cell proliferation [GO:0008284]; positive regulation of hematopoietic stem cell proliferation [GO:1902035]; positive regulation of leukocyte migration [GO:0002687]; positive regulation of MAP kinase activity [GO:0043406]; positive regulation of mast cell proliferation [GO:0070668]; positive regulation of melanocyte differentiation [GO:0045636]; positive regulation of myeloid leukocyte differentiation [GO:0002763]; positive regulation of peptidyl-tyrosine phosphorylation [GO:0050731]; positive regulation of protein kinase B signaling [GO:0051897]; positive regulation of Ras protein signal transduction [GO:0046579]; signal transduction [GO:0007165]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; Synonyms=SCF248; IsoId=P21583-1; Sequence=Displayed; Name=2; Synonyms=SCF220; IsoId=P21583-2; Sequence=VSP_006022; Name=3; IsoId=P21583-3; Sequence=VSP_032762, VSP_032763; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Isoform 1: Cell membrane; Single-pass type I membrane protein.; SUBCELLULAR LOCATION: Isoform 2: Cytoplasm {ECO:0000269|PubMed:26522471}. Cytoplasm, cytoskeleton {ECO:0000250}. Cell membrane {ECO:0000269|PubMed:26522471}; Single-pass type I membrane protein {ECO:0000250}. Cell projection, lamellipodium {ECO:0000269|PubMed:26522471}. Cell projection, filopodium {ECO:0000269|PubMed:26522471}.; SUBCELLULAR LOCATION: Soluble KIT ligand: Secreted.


uniprotID: Q6UWF3
geneSymbol: SCIMP
name: SLP adapter and CSK-interacting membrane protein (SLP65/SLP76, Csk-interacting membrane protein)
length: 145
go: ENSG00000161929;
sequence:
MDTFTVQDSTAMSWWRNNFWIILAVAIIVVSVGLGLILYCVCKWQLRRGKKWEIAKPLKHKQVDEEKMYENVLNESPVQLPPLPPRNWPSLEDSSPQEAPSQPPATYSLVNKVKNKKTVSIPSYIEPEDDYDDVEIPANTEKASF

opentargets:
immunological synapse [GO:0001772]; integral component of membrane [GO:0016021]; leading edge membrane [GO:0031256]; membrane [GO:0016020]; tetraspanin-enriched microdomain [GO:0097197]; uropod membrane [GO:0031259]; positive regulation of ERK1 and ERK2 cascade [GO:0070374]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q6UWF3-1; Sequence=Displayed; Name=2; IsoId=Q6UWF3-2; Sequence=VSP_026853, VSP_026854, VSP_026855; Note=No experimental confirmation available.; Name=3; IsoId=Q6UWF3-3; Sequence=VSP_026853; 

location:
SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Single-pass membrane protein {ECO:0000305}. Membrane {ECO:0000269|PubMed:21930792}; Lipid-anchor {ECO:0000269|PubMed:21930792}. Note=Together with MHC-II, associates with lipid-enriched microdomains called tetraspanin-enriched microdomains (TEMs). Rapidly translocates into immunological synapse (IS) at cell-cell contacts between antigen-presenting cells (APCs) and T-cells. Colocalized with tetraspanins CD37, CD53, and CD81 at the uropod. Present at regions of cell-cell contacts but also at the leading edge of migrating cells.


uniprotID: P05060
geneSymbol: CHGB
reactome: R-HSA-381426;R-HSA-8957275;
length: 677
go: ENSG00000089199;
snps: rs6085324 rs236150 rs6133278 rs910122 rs881118 rs6139873 rs236151 rs236152 rs742710 rs742711
location: SUBCELLULAR LOCATION: Secreted. Note=Neuroendocrine and endocrine secretory granules.
name:
Secretogranin-1 (Chromogranin-B) (CgB) (Secretogranin I) (SgI) [Cleaved into: PE-11; GAWK peptide; CCB peptide]

sequence:

opentargets:
endoplasmic reticulum lumen [GO:0005788]; extracellular space [GO:0005615]; secretory granule [GO:0030141]; hormone activity [GO:0005179]; cellular protein metabolic process [GO:0044267]; post-translational protein modification [GO:0043687]


uniprotID: A0A286YFB4
geneSymbol: SCYGR2
name: Small cysteine and glycine repeat-containing protein 2 (Keratin-associated protein 28-2)
length: 120
opentargets: intermediate filament [GO:0005882]
sequence:
MGCCGCGGCGGCGGRCGGCGGGCGGGCGGGCGGGCGGGCGGGCGGGCGGGCGGSCGSCTTCRCYRVGCCSSCCPCCRGCCGGCCSTPVICCCRRTCHSCGCGCGKGCCQQKCCCQKQCCC


uniprotID: Q969E2
geneSymbol: SCAMP4
name: Secretory carrier-associated membrane protein 4 (Secretory carrier membrane protein 4)
length: 229
go: ENSG00000227500;
snps: rs45562539
location: SUBCELLULAR LOCATION: Membrane; Multi-pass membrane protein.
sequence:

opentargets:
Golgi apparatus [GO:0005794]; Golgi membrane [GO:0000139]; integral component of membrane [GO:0016021]; recycling endosome membrane [GO:0055038]; trans-Golgi network membrane [GO:0032588]; protein transport [GO:0015031]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q969E2-1; Sequence=Displayed; Name=2; IsoId=Q969E2-2; Sequence=VSP_026446; Name=3; IsoId=Q969E2-3; Sequence=VSP_026447; 


uniprotID: Q8TAC9
geneSymbol: SCAMP5
name: Secretory carrier-associated membrane protein 5 (Secretory carrier membrane protein 5) (hSCAMP5)
length: 235
go: ENSG00000198794;
sequence:

opentargets:
cell junction [GO:0030054]; Golgi apparatus [GO:0005794]; Golgi membrane [GO:0000139]; integral component of membrane [GO:0016021]; plasma membrane [GO:0005886]; recycling endosome membrane [GO:0055038]; synaptic vesicle membrane [GO:0030672]; trans-Golgi network membrane [GO:0032588]; protein-containing complex binding [GO:0044877]; exocytosis [GO:0006887]; negative regulation of endocytosis [GO:0045806]; positive regulation of calcium ion-dependent exocytosis [GO:0045956]; positive regulation of cytokine secretion [GO:0050715]; protein transport [GO:0015031]; response to endoplasmic reticulum stress [GO:0034976]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q8TAC9-1; Sequence=Displayed; Name=2; IsoId=Q8TAC9-2; Sequence=VSP_010206; Note=No experimental confirmation available.; Name=3; IsoId=Q8TAC9-3; Sequence=VSP_036934; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein. Golgi apparatus membrane; Multi-pass membrane protein. Golgi apparatus, trans-Golgi network membrane; Multi-pass membrane protein. Recycling endosome membrane; Multi-pass membrane protein. Cytoplasmic vesicle, secretory vesicle, synaptic vesicle membrane {ECO:0000250}; Multi-pass membrane protein {ECO:0000250}. Note=Mainly localizes in Golgi apparatus membrane. Upon calcium-triggered exocytosis, it translocates to the cell membrane. Highly enriched in synaptic vesicles (By similarity). {ECO:0000250}.


uniprotID: Q07699
geneSymbol: SCN1B
reactome: R-HSA-445095;R-HSA-5576892;
name: Sodium channel subunit beta-1
length: 218
go: ENSG00000105711;
drug: DB00313;DB00909;
sequence:

opentargets:
extracellular region [GO:0005576]; intercalated disc [GO:0014704]; node of Ranvier [GO:0033268]; plasma membrane [GO:0005886]; T-tubule [GO:0030315]; voltage-gated sodium channel complex [GO:0001518]; ion channel binding [GO:0044325]; sodium channel inhibitor activity [GO:0019871]; sodium channel regulator activity [GO:0017080]; voltage-gated ion channel activity [GO:0005244]; voltage-gated sodium channel activity [GO:0005248]; voltage-gated sodium channel activity involved in cardiac muscle cell action potential [GO:0086006]; voltage-gated sodium channel activity involved in Purkinje myocyte action potential [GO:0086062]; axon guidance [GO:0007411]; cardiac conduction [GO:0061337]; cardiac muscle cell action potential involved in contraction [GO:0086002]; cardiac muscle contraction [GO:0060048]; cell adhesion [GO:0007155]; chemical synaptic transmission [GO:0007268]; corticospinal neuron axon guidance [GO:0021966]; locomotion [GO:0040011]; membrane depolarization [GO:0051899]; membrane depolarization during cardiac muscle cell action potential [GO:0086012]; membrane depolarization during Purkinje myocyte cell action potential [GO:0086047]; neuronal action potential propagation [GO:0019227]; positive regulation of neuron projection development [GO:0010976]; positive regulation of sodium ion transport [GO:0010765]; regulation of atrial cardiac muscle cell membrane depolarization [GO:0060371]; regulation of heart rate by cardiac conduction [GO:0086091]; regulation of sodium ion transmembrane transporter activity [GO:2000649]; regulation of ventricular cardiac muscle cell membrane repolarization [GO:0060307]; response to pyrethroid [GO:0046684]; sodium ion transmembrane transport [GO:0035725]

snps:
rs786205837 rs16969925 rs121434627 rs104894718 rs1135401736 rs72558029 rs72550247 rs780958012 rs150721582 rs201209882 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; Synonyms=Beta-1; IsoId=Q07699-1; Sequence=Displayed; Name=2; Synonyms=Beta-1B, beta1A, beta1B; IsoId=Q07699-2; Sequence=VSP_041982; Note=Due to intron 3 retention.; 

location:
SUBCELLULAR LOCATION: Isoform 1: Cell membrane {ECO:0000269|PubMed:17928445, ECO:0000269|PubMed:19710327, ECO:0000305|PubMed:8125980}; Single-pass type I membrane protein {ECO:0000255, ECO:0000305|PubMed:8125980}.; SUBCELLULAR LOCATION: Isoform 2: Secreted {ECO:0000269|PubMed:21994374}.


uniprotID: Q15858
geneSymbol: SCN9A
reactome: R-HSA-445095;R-HSA-5576892;
pdb: 5EK0;
length: 1988
go: ENSG00000169432;
drug: DB06218;DB00281;DB00243;DB06201;DB00313;DB00909;
name:
Sodium channel protein type 9 subunit alpha (Neuroendocrine sodium channel) (hNE-Na) (Peripheral sodium channel 1) (PN1) (Sodium channel protein type IX subunit alpha) (Voltage-gated sodium channel subunit alpha Nav1.7)

sequence:

opentargets:
axon [GO:0030424]; integral component of plasma membrane [GO:0005887]; plasma membrane [GO:0005886]; voltage-gated sodium channel complex [GO:0001518]; sodium ion binding [GO:0031402]; voltage-gated ion channel activity [GO:0005244]; voltage-gated sodium channel activity [GO:0005248]; behavioral response to pain [GO:0048266]; inflammatory response [GO:0006954]; membrane depolarization during action potential [GO:0086010]; neuronal action potential [GO:0019228]; post-embryonic development [GO:0009791]; regulation of ion transmembrane transport [GO:0034765]; response to toxic substance [GO:0009636]; sensory perception of pain [GO:0019233]; sodium ion transmembrane transport [GO:0035725]; sodium ion transport [GO:0006814]

snps:
rs267607030 rs121908920 rs121908921 rs80356469 rs71428908 rs80356470 rs80356471 rs58022607 rs187453572 rs121908918 rs121908919 rs199588089 rs201709980 rs182650126 rs80356474 rs80356476 rs80356475 rs1024152367 rs12478318 rs12478318 rs121908910 rs200160858 rs6746030 rs180922748 rs121908911 rs121908912 rs121908913 rs80356478 rs121908914 rs121908915 rs1131691776 rs879253994 rs3750904 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=Q15858-1; Sequence=Displayed; Name=2; IsoId=Q15858-2; Sequence=VSP_012028; Name=3; IsoId=Q15858-3; Sequence=VSP_012029; Name=4; IsoId=Q15858-4; Sequence=VSP_012028, VSP_012029; 

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:15385606, ECO:0000269|PubMed:17167479, ECO:0000269|PubMed:19369487, ECO:0000269|PubMed:24311784, ECO:0000269|PubMed:25240195, ECO:0000269|PubMed:26680203, ECO:0000269|PubMed:7720699}; Multi-pass membrane protein {ECO:0000250|UniProtKB:D0E0C2}. Cell projection {ECO:0000250|UniProtKB:O08562}. Note=In neurite terminals. {ECO:0000250|UniProtKB:O08562}.


uniprotID: Q6KCM7
geneSymbol: SLC25A25
length: 469
go: ENSG00000148339;
name:
Calcium-binding mitochondrial carrier protein SCaMC-2 (Mitochondrial ATP-Mg/Pi carrier protein 3) (Mitochondrial Ca(2+)-dependent solute carrier protein 3) (Small calcium-binding mitochondrial carrier protein 2) (Solute carrier family 25 member 25)

sequence:

opentargets:
integral component of membrane [GO:0016021]; mitochondrial inner membrane [GO:0005743]; ATP transmembrane transporter activity [GO:0005347]; calcium ion binding [GO:0005509]; adipose tissue development [GO:0060612]; ATP metabolic process [GO:0046034]; calcium ion transmembrane transport [GO:0070588]; camera-type eye development [GO:0043010]; cellular respiration [GO:0045333]; multicellular organism growth [GO:0035264]; response to activity [GO:0014823]; response to dietary excess [GO:0002021]; response to food [GO:0032094]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=6;  Name=1; Synonyms=SCaMC-2a; IsoId=Q6KCM7-1; Sequence=Displayed; Name=2; Synonyms=SCaMC-2b; IsoId=Q6KCM7-2; Sequence=VSP_031069; Name=3; IsoId=Q6KCM7-3; Sequence=VSP_031069, VSP_031070; Name=4; Synonyms=SCaMC-2c; IsoId=Q6KCM7-4; Sequence=VSP_031068; Name=5; IsoId=Q6KCM7-5; Sequence=VSP_031068, VSP_031070; Name=6; Synonyms=SCaMC-2d; IsoId=Q6KCM7-6; Sequence=VSP_031067; 

location:
SUBCELLULAR LOCATION: Mitochondrion inner membrane {ECO:0000269|PubMed:15054102, ECO:0000269|PubMed:15123600}; Multi-pass membrane protein {ECO:0000269|PubMed:15054102, ECO:0000269|PubMed:15123600}.


uniprotID: Q9UI33
geneSymbol: SCN11A
reactome: R-HSA-445095;R-HSA-5576892;
length: 1791
go: ENSG00000168356;
drug: DB00907;DB00313;DB00909;
name:
Sodium channel protein type 11 subunit alpha (Peripheral nerve sodium channel 5) (PN5) (Sensory neuron sodium channel 2) (Sodium channel protein type XI subunit alpha) (Voltage-gated sodium channel subunit alpha Nav1.9) (hNaN)

sequence:

opentargets:
axon [GO:0030424]; C-fiber [GO:0044299]; extracellular exosome [GO:0070062]; plasma membrane [GO:0005886]; voltage-gated sodium channel complex [GO:0001518]; voltage-gated ion channel activity [GO:0005244]; voltage-gated sodium channel activity [GO:0005248]; membrane depolarization during action potential [GO:0086010]; neuronal action potential [GO:0019228]; regulation of ion transmembrane transport [GO:0034765]; regulation of sensory perception of pain [GO:0051930]; response to drug [GO:0042493]; sodium ion transmembrane transport [GO:0035725]; sodium ion transport [GO:0006814]

snps:
rs138607170 rs751477540 rs606231280 rs150269814 rs13059805 rs141228634 rs145734191 rs4302324 rs483352921 rs483352920 rs33985936 rs141686175 rs12638601 rs72869687 rs201107889 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q9UI33-1; Sequence=Displayed; Name=2; Synonyms=Scn12a-s; IsoId=Q9UI33-2; Sequence=VSP_012260, VSP_012261; Name=3; IsoId=Q9UI33-3; Sequence=VSP_012259; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000250|UniProtKB:D0E0C2}; Multi-pass membrane protein {ECO:0000250|UniProtKB:D0E0C2}.


