# annotation

uniprotID: P35499
geneSymbol: SCN4A
reactome: R-HSA-445095;R-HSA-5576892;
length: 1836
go: ENSG00000007314;
drug: DB00586;DB01195;DB00818;DB00313;DB00909;
name:
Sodium channel protein type 4 subunit alpha (SkM1) (Sodium channel protein skeletal muscle subunit alpha) (Sodium channel protein type IV subunit alpha) (Voltage-gated sodium channel subunit alpha Nav1.4)

sequence:

opentargets:
axon [GO:0030424]; integral component of plasma membrane [GO:0005887]; 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]; muscle contraction [GO:0006936]; neuronal action potential [GO:0019228]; regulation of ion transmembrane transport [GO:0034765]; sodium ion transmembrane transport [GO:0035725]; sodium ion transport [GO:0006814]

snps:
rs1303471186 rs1248025530 rs121908561 rs933258893 rs527236148 rs764718003 rs80338951 rs121908552 rs372631097 rs6504191 rs1047705 rs80338784 rs80338785 rs80338785 rs80338788 rs80338785 rs121908556 rs121908557 rs121908556 rs80338956 rs80338957 rs749400108 rs62070884 rs121908546 rs373150395 rs527236149 rs80338789 rs527236150 rs80338958 rs121908555 rs121908549 rs121908551 rs121908560 rs80338792 rs80338792 rs80338792 rs121908547 rs2058194 rs121908550 rs121908553 rs121908544 rs121908545 rs879253789 rs121908554 rs863225046 rs121908559 rs121908548 rs80338962 rs1064794243 

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:15318338, ECO:0000269|PubMed:16890191}; Multi-pass membrane protein {ECO:0000250|UniProtKB:D0E0C2}.


uniprotID: P37088
geneSymbol: SCNN1A
reactome: R-HSA-2672351;
pdb: 2M3O;
length: 669
go: ENSG00000111319;
drug: DB00594;DB00384;
name:
Amiloride-sensitive sodium channel subunit alpha (Alpha-NaCH) (Epithelial Na(+) channel subunit alpha) (Alpha-ENaC) (ENaCA) (Nonvoltage-gated sodium channel 1 subunit alpha) (SCNEA)

sequence:

opentargets:
acrosomal vesicle [GO:0001669]; apical plasma membrane [GO:0016324]; ciliary membrane [GO:0060170]; cytoplasm [GO:0005737]; extracellular exosome [GO:0070062]; integral component of plasma membrane [GO:0005887]; motile cilium [GO:0031514]; plasma membrane [GO:0005886]; sodium channel complex [GO:0034706]; sperm principal piece [GO:0097228]; ligand-gated sodium channel activity [GO:0015280]; WW domain binding [GO:0050699]; multicellular organismal water homeostasis [GO:0050891]; response to stimulus [GO:0050896]; sensory perception of taste [GO:0050909]; sodium ion homeostasis [GO:0055078]; sodium ion transmembrane transport [GO:0035725]

snps:
rs61758859 rs61759861 rs55797039 rs974854786 rs11542844 rs13306616 rs5742912 rs137852635 rs59142484 rs3741913 rs2228576 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=6;  Name=1; Synonyms=Alpha ENAC1; IsoId=P37088-1; Sequence=Displayed; Name=2; Synonyms=Alpha ENAC2; IsoId=P37088-2; Sequence=VSP_007719; Name=3; Synonyms=Alpha ENACx; IsoId=P37088-3; Sequence=VSP_007720, VSP_007721; Note=Does not give rise to amiloride-sensitive ion current. May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.; Name=4; Synonyms=Alpha ENAC-19; IsoId=P37088-4; Sequence=VSP_007722; Note=Amiloride-sensitive ion current is nearly abolished.; Name=5; Synonyms=Alpha ENAC+22; IsoId=P37088-5; Sequence=VSP_007723; Note=Does not give rise to amiloride-sensitive ion current.; Name=6; IsoId=P37088-6; Sequence=VSP_043667; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Apical cell membrane {ECO:0000269|PubMed:22207244, ECO:0000269|PubMed:28130590}; Multi-pass membrane protein {ECO:0000250|UniProtKB:P37089}. Cell projection, cilium {ECO:0000269|PubMed:22207244}. Cytoplasmic granule {ECO:0000269|PubMed:28130590}. Cytoplasm {ECO:0000269|PubMed:28130590}. Cytoplasmic vesicle, secretory vesicle, acrosome {ECO:0000250|UniProtKB:P37089}. Cell projection, cilium, flagellum {ECO:0000250|UniProtKB:P37089}. Note=In the oviduct and bronchus, located on cilia in multi-ciliated cells. In endometrial non-ciliated epithelial cells, restricted to apical surfaces. In epidermis, located nearly uniformly in the cytoplasm in a granular distribution (PubMed:28130590). In sebaceous glands, observed only in the cytoplasmic space in between the lipid vesicles (PubMed:28130590). In eccrine sweat glands, mainly located at the apical surface of the cells facing the lumen (PubMed:28130590). In skin, in arrector pili muscle cells and in adipocytes, located in the cytoplasm and colocalized with actin fibers (PubMed:28130590). In spermatogonia, spermatocytes and round spermatids, located in the cytoplasm (By similarity). Prior to spermiation, location shifts from the cytoplasm to the spermatid tail (By similarity). In spermatozoa, localizes at the acrosome and the central region of the sperm flagellum (By similarity). {ECO:0000250|UniProtKB:P37089, ECO:0000269|PubMed:22207244, ECO:0000269|PubMed:24124190, ECO:0000269|PubMed:28130590}.


uniprotID: Q9UQD0
geneSymbol: SCN8A
reactome: R-HSA-445095;R-HSA-5576892;
length: 1980
go: ENSG00000196876;
drug: DB05232;DB00313;
name:
Sodium channel protein type 8 subunit alpha (Sodium channel protein type VIII subunit alpha) (Voltage-gated sodium channel subunit alpha Nav1.6)

sequence:

opentargets:
axon [GO:0030424]; axon initial segment [GO:0043194]; cytoplasmic vesicle [GO:0031410]; integral component of membrane [GO:0016021]; node of Ranvier [GO:0033268]; plasma membrane [GO:0005886]; voltage-gated sodium channel complex [GO:0001518]; Z disc [GO:0030018]; ATP binding [GO:0005524]; voltage-gated ion channel activity [GO:0005244]; voltage-gated sodium channel activity [GO:0005248]; membrane depolarization during action potential [GO:0086010]; myelination [GO:0042552]; nervous system development [GO:0007399]; neuronal action potential [GO:0019228]; peripheral nervous system development [GO:0007422]; regulation of ion transmembrane transport [GO:0034765]; sodium ion transmembrane transport [GO:0035725]; sodium ion transport [GO:0006814]

snps:
rs879255696 rs672601319 rs879255697 rs1057519557 rs879255698 rs879255699 rs76222829 rs797045013 rs879255700 rs587780586 rs879255702 rs879255703 rs1057519540 rs876657399 rs879255704 rs397514738 rs863223345 rs587777722 rs587777723 rs796053216 rs796053217 rs879255652 rs587780454 rs879255705 rs587777721 rs879255709 rs202151337 rs879255710 rs796053229 rs796053229 rs796053228 rs587780455 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=5;  Name=1 {ECO:0000269|PubMed:9828131}; IsoId=Q9UQD0-1; Sequence=Displayed; Name=2 {ECO:0000269|PubMed:9828131}; Synonyms=5A {ECO:0000269|PubMed:9828131}; IsoId=Q9UQD0-2; Sequence=VSP_050589, VSP_050590; Name=3 {ECO:0000269|PubMed:9828131}; IsoId=Q9UQD0-3; Sequence=VSP_050591; Name=4 {ECO:0000269|PubMed:9295353}; Synonyms=18N {ECO:0000269|PubMed:9295353}; IsoId=Q9UQD0-4; Sequence=VSP_050592, VSP_050593; Name=5; IsoId=Q9UQD0-5; Sequence=VSP_038651; 

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:19136557}; Multi-pass membrane protein {ECO:0000269|PubMed:19136557}.; SUBCELLULAR LOCATION: Isoform 5: Cytoplasmic vesicle. Note=Some vesicles are localized adjacent to melanoma invadopodia and macrophage podosomes. Does not localize to the plasma membrane.


uniprotID: Q96PV0
geneSymbol: SYNGAP1
reactome: R-HSA-5658442;R-HSA-6802949;
length: 1343
go: ENSG00000197283;
name:
Ras/Rap GTPase-activating protein SynGAP (Neuronal RasGAP) (Synaptic Ras GTPase-activating protein 1) (Synaptic Ras-GAP 1)

sequence:

opentargets:
cytosol [GO:0005829]; dendritic shaft [GO:0043198]; glutamatergic synapse [GO:0098978]; plasma membrane [GO:0005886]; postsynaptic density [GO:0014069]; GTPase activator activity [GO:0005096]; SH3 domain binding [GO:0017124]; dendrite development [GO:0016358]; maintenance of postsynaptic specialization structure [GO:0098880]; MAPK cascade [GO:0000165]; negative regulation of axonogenesis [GO:0050771]; negative regulation of neuron apoptotic process [GO:0043524]; negative regulation of Ras protein signal transduction [GO:0046580]; pattern specification process [GO:0007389]; Ras protein signal transduction [GO:0007265]; receptor clustering [GO:0043113]; regulation of long-term neuronal synaptic plasticity [GO:0048169]; regulation of MAPK cascade [GO:0043408]; regulation of synapse structure or activity [GO:0050803]; regulation of synaptic plasticity [GO:0048167]; visual learning [GO:0008542]

snps:
rs1057519546 rs1057519545 rs768682743 rs397514670 rs552867155 rs145472959 rs191549504 rs1396355432 rs796430835 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Comment=Additional isoforms seem to exist.; Name=1; IsoId=Q96PV0-1; Sequence=Displayed; Name=2; IsoId=Q96PV0-2; Sequence=VSP_007973; Name=3; IsoId=Q96PV0-3; Sequence=VSP_026376; Name=4; IsoId=Q96PV0-4; Sequence=VSP_026377; 


uniprotID: Q9UJQ7
geneSymbol: SCP2D1
name: SCP2 sterol-binding domain-containing protein 1
length: 156
go: ENSG00000132631;
snps: rs1053839
sequence:
MWKRSDHQPKIKAEDGPLVGQFEVLGSVPEPAMPHPLELSEFESFPVFQDIRLHIREVGAQLVKKVNAVFQLDITKNGKTILRWTIDLKNGSGDMYPGPARLPADTVFTIPESVFMELVLGKMNPQKAFLAGKFKVSGKVLLSWKLERVFKDWAKF

opentargets:
phospholipid transport [GO:0015914]; positive regulation of intracellular cholesterol transport [GO:0032385]; steroid biosynthetic process [GO:0006694]


uniprotID: P12081
geneSymbol: HARS
reactome: R-HSA-379716;
pdb: 1X59;2LW7;4G84;4G85;4PHC;4X5O;5W6M;
name: Histidine--tRNA ligase, cytoplasmic (EC 6.1.1.21) (Histidyl-tRNA synthetase) (HisRS)
length: 509
go: ENSG00000170445;
drug: DB00117;
location: SUBCELLULAR LOCATION: Cytoplasm.
sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; mitochondrion [GO:0005739]; ATP binding [GO:0005524]; histidine-tRNA ligase activity [GO:0004821]; identical protein binding [GO:0042802]; histidyl-tRNA aminoacylation [GO:0006427]; mitochondrial translation [GO:0032543]; translation [GO:0006412]; tRNA aminoacylation for protein translation [GO:0006418]

snps:
rs78741041 rs143473232 rs863225122 rs191391414 rs863225123 rs147288996 rs536175170 rs863225124 rs139447495 rs34732372 rs387906639 rs747156884 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=P12081-1; Sequence=Displayed; Name=2; IsoId=P12081-2; Sequence=VSP_045118; Name=3; IsoId=P12081-3; Sequence=VSP_045118, VSP_046662; Name=4; IsoId=P12081-4; Sequence=VSP_046662; 


uniprotID: P49590
geneSymbol: HARS2
reactome: R-HSA-379726;
length: 506
go: ENSG00000112855;
snps: rs397515410 rs376177973
location: SUBCELLULAR LOCATION: Mitochondrion matrix {ECO:0000250}.
name:
Probable histidine--tRNA ligase, mitochondrial (EC 6.1.1.21) (Histidine--tRNA ligase-like) (Histidyl-tRNA synthetase) (HisRS)

sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; mitochondrial matrix [GO:0005759]; mitochondrion [GO:0005739]; ATP binding [GO:0005524]; histidine-tRNA ligase activity [GO:0004821]; identical protein binding [GO:0042802]; protein homodimerization activity [GO:0042803]; RNA binding [GO:0003723]; histidyl-tRNA aminoacylation [GO:0006427]; translation [GO:0006412]; tRNA aminoacylation for protein translation [GO:0006418]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P49590-1; Sequence=Displayed; Name=2; IsoId=P49590-2; Sequence=VSP_055133; 


uniprotID: Q9NQ03
geneSymbol: SCRT2
name: Transcriptional repressor scratch 2 (Scratch homolog 2 zinc finger protein)
length: 307
go: ENSG00000215397;
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000305}.
sequence:

opentargets:
nuclear chromatin [GO:0000790]; 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]; E-box binding [GO:0070888]; metal ion binding [GO:0046872]; RNA polymerase II regulatory region sequence-specific DNA binding [GO:0000977]; negative regulation of extrinsic apoptotic signaling pathway via death domain receptors [GO:1902042]; negative regulation of transcription by RNA polymerase II [GO:0000122]; regulation of neuron migration [GO:2001222]; regulation of transcription, DNA-templated [GO:0006355]


uniprotID: Q96FV2
geneSymbol: SCRN2
name: Secernin-2
length: 425
go: ENSG00000141295;
opentargets: extracellular exosome [GO:0070062]; dipeptidase activity [GO:0016805]; exocytosis [GO:0006887]
snps: rs17856536 rs35901087 rs7350974 rs34480825 rs17856535
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q96FV2-1; Sequence=Displayed; Name=2; IsoId=Q96FV2-2; Sequence=VSP_044566; 


uniprotID: Q0VDG4
geneSymbol: SCRN3
name: Secernin-3
length: 424
go: ENSG00000144306;
opentargets: dipeptidase activity [GO:0016805]; exocytosis [GO:0006887]
snps: rs10497410 rs6716400
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q0VDG4-1; Sequence=Displayed; Name=2; IsoId=Q0VDG4-2; Sequence=VSP_042720; Note=No experimental confirmation available.; 


uniprotID: Q8IWY4
geneSymbol: SCUBE1
reactome: R-HSA-1474228;
name: Signal peptide, CUB and EGF-like domain-containing protein 1
length: 988
go: ENSG00000159307;
snps: rs129415 rs138993
sequence:

opentargets:
cell surface [GO:0009986]; external side of plasma membrane [GO:0009897]; extracellular space [GO:0005615]; extrinsic component of plasma membrane [GO:0019897]; plasma membrane [GO:0005886]; calcium ion binding [GO:0005509]; identical protein binding [GO:0042802]; protein heterodimerization activity [GO:0046982]; adult heart development [GO:0007512]; blood coagulation [GO:0007596]; endothelial cell differentiation [GO:0045446]; extracellular matrix disassembly [GO:0022617]; inflammatory response [GO:0006954]; positive regulation of smoothened signaling pathway [GO:0045880]; post-embryonic development [GO:0009791]; protein homooligomerization [GO:0051260]

location:
SUBCELLULAR LOCATION: Secreted {ECO:0000269|PubMed:12270931, ECO:0000269|PubMed:16753137}. Cell membrane {ECO:0000269|PubMed:16753137}; Peripheral membrane protein {ECO:0000269|PubMed:16753137}.


uniprotID: Q8IX30
geneSymbol: SCUBE3
reactome: R-HSA-1474228;
name: Signal peptide, CUB and EGF-like domain-containing protein 3
length: 993
go: ENSG00000146197;
snps: rs3800381
sequence:

opentargets:
cell surface [GO:0009986]; extracellular space [GO:0005615]; plasma membrane [GO:0005886]; calcium ion binding [GO:0005509]; extracellular matrix disassembly [GO:0022617]; positive regulation of smoothened signaling pathway [GO:0045880]; protein heterooligomerization [GO:0051291]; protein homooligomerization [GO:0051260]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1 {ECO:0000269|PubMed:15234972, ECO:0000269|PubMed:15489334, ECO:0000269|Ref.2}; IsoId=Q8IX30-1; Sequence=Displayed; Name=2 {ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:15489334}; IsoId=Q8IX30-2; Sequence=VSP_052167; 

location:
SUBCELLULAR LOCATION: Secreted {ECO:0000269|PubMed:15234972}. Cell surface {ECO:0000269|PubMed:15234972}.


uniprotID: Q6IQ49
geneSymbol: SDE2
name: Replication stress response regulator SDE2
length: 451
go: ENSG00000143751;
snps: rs34348128
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:27906959}.
sequence:

opentargets:
nucleus [GO:0005634]; damaged DNA binding [GO:0003684]; cell cycle [GO:0007049]; cell division [GO:0051301]; cellular response to UV [GO:0034644]; DNA replication [GO:0006260]; protein processing [GO:0016485]; protein ubiquitination [GO:0016567]; regulation of cell cycle arrest [GO:0071156]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q6IQ49-1; Sequence=Displayed; Name=2; IsoId=Q6IQ49-2; Sequence=VSP_024982; Note=No experimental confirmation available.; Name=3; IsoId=Q6IQ49-3; Sequence=VSP_024981; Note=No experimental confirmation available.; 


uniprotID: P48061
geneSymbol: CXCL12
reactome: R-HSA-1251985;R-HSA-376176;R-HSA-380108;R-HSA-418594;R-HSA-9018519;
sequence: MNAKVVVVLVLVLTALCLSDGKPVSLSYRCPCRFFESHVARANVKHLKILNTPNCALQIVARLKNNNRQVCIDPKLKWIQEYLEKALNKRFKM
length: 93
go: ENSG00000107562;
drug: DB06822;
location: SUBCELLULAR LOCATION: Secreted.
pdb:
1A15;1QG7;1SDF;1VMC;2J7Z;2K01;2K03;2K04;2K05;2KEC;2KED;2KEE;2KOL;2N55;2NWG;2SDF;3GV3;3HP3;4LMQ;4UAI;

name:
Stromal cell-derived factor 1 (SDF-1) (hSDF-1) (C-X-C motif chemokine 12) (Intercrine reduced in hepatomas) (IRH) (hIRH) (Pre-B cell growth-stimulating factor) (PBSF) [Cleaved into: SDF-1-beta(3-72); SDF-1-alpha(3-67)]

opentargets:
cytoplasm [GO:0005737]; external side of plasma membrane [GO:0009897]; extracellular exosome [GO:0070062]; extracellular region [GO:0005576]; chemokine activity [GO:0008009]; chemokine receptor binding [GO:0042379]; CXCR chemokine receptor binding [GO:0045236]; growth factor activity [GO:0008083]; integrin binding [GO:0005178]; signaling receptor binding [GO:0005102]; adult locomotory behavior [GO:0008344]; animal organ regeneration [GO:0031100]; antimicrobial humoral immune response mediated by antimicrobial peptide [GO:0061844]; axon guidance [GO:0007411]; blood circulation [GO:0008015]; cell adhesion [GO:0007155]; cell chemotaxis [GO:0060326]; cellular calcium ion homeostasis [GO:0006874]; cellular response to chemokine [GO:1990869]; chemokine (C-X-C motif) ligand 12 signaling pathway [GO:0038146]; chemokine-mediated signaling pathway [GO:0070098]; chemotaxis [GO:0006935]; defense response [GO:0006952]; detection of mechanical stimulus involved in sensory perception of pain [GO:0050966]; detection of temperature stimulus involved in sensory perception of pain [GO:0050965]; G protein-coupled receptor signaling pathway [GO:0007186]; immune response [GO:0006955]; induction of positive chemotaxis [GO:0050930]; integrin activation [GO:0033622]; killing of cells of other organism [GO:0031640]; negative regulation of dendritic cell apoptotic process [GO:2000669]; negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage [GO:1902230]; negative regulation of leukocyte tethering or rolling [GO:1903237]; neuron migration [GO:0001764]; positive regulation of axon extension involved in axon guidance [GO:0048842]; positive regulation of calcium ion import [GO:0090280]; positive regulation of cell adhesion [GO:0045785]; positive regulation of cell migration [GO:0030335]; positive regulation of dopamine secretion [GO:0033603]; positive regulation of endothelial cell proliferation [GO:0001938]; positive regulation of monocyte chemotaxis [GO:0090026]; positive regulation of T cell migration [GO:2000406]; regulation of actin polymerization or depolymerization [GO:0008064]; response to heat [GO:0009408]; response to hypoxia [GO:0001666]; response to peptide hormone [GO:0043434]; response to radiation [GO:0009314]; response to ultrasound [GO:1990478]; response to virus [GO:0009615]; signal transduction [GO:0007165]; T cell chemotaxis [GO:0010818]; telencephalon cell migration [GO:0022029]; viral process [GO:0016032]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=7;  Name=Beta; Synonyms=SDF-1-beta(1-72), hSDF-1beta; IsoId=P48061-1; Sequence=Displayed; Name=Alpha; Synonyms=SDF-1-alpha(1-68), hSDF-1alpha; IsoId=P48061-2; Sequence=VSP_001056; Name=Gamma; Synonyms=hSDF-1gamma, SDF-1g; IsoId=P48061-3; Sequence=VSP_041209; Name=Delta; Synonyms=hSDF-1delta; IsoId=P48061-4; Sequence=VSP_042118; Name=Epsilon; Synonyms=hSDFepsilon; IsoId=P48061-5; Sequence=VSP_042119; Name=Theta; Synonyms=hSDFphi, hSDFtheta, Phi; IsoId=P48061-6; Sequence=VSP_042120; Name=7; IsoId=P48061-7; Sequence=VSP_054781; Note=Gene prediction based on EST data.; 


uniprotID: Q86SQ7
geneSymbol: SDCCAG8
reactome: R-HSA-2565942;R-HSA-380259;R-HSA-380270;R-HSA-380284;R-HSA-380320;R-HSA-5620912;R-HSA-8854518;
length: 713
go: ENSG00000054282;
snps: rs2275155
name:
Serologically defined colon cancer antigen 8 (Antigen NY-CO-8) (Centrosomal colon cancer autoantigen protein) (hCCCAP)

sequence:

opentargets:
cell-cell junction [GO:0005911]; centriolar satellite [GO:0034451]; centriole [GO:0005814]; centrosome [GO:0005813]; cytosol [GO:0005829]; centrosome cycle [GO:0007098]; ciliary basal body-plasma membrane docking [GO:0097711]; establishment of cell polarity [GO:0030010]; G2/M transition of mitotic cell cycle [GO:0000086]; microtubule organizing center organization [GO:0031023]; neuron migration [GO:0001764]; regulation of G2/M transition of mitotic cell cycle [GO:0010389]; tube formation [GO:0035148]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; Synonyms=a; IsoId=Q86SQ7-1; Sequence=Displayed; Name=2; Synonyms=e; IsoId=Q86SQ7-2; Sequence=VSP_016951, VSP_016952; Name=3; IsoId=Q86SQ7-3; Sequence=VSP_016950, VSP_016953; Name=4; Synonyms=b; IsoId=Q86SQ7-4; Sequence=VSP_016949; 

location:
SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton, microtubule organizing center, centrosome, centriole. Cell junction. Note=Located at the distal ends of both centrioles and colocalizes to centrosomes throughout the cell cycle.; SUBCELLULAR LOCATION: Isoform 2: Cytoplasm.


uniprotID: P21912
geneSymbol: SDHB
reactome: R-HSA-611105;R-HSA-71403;
length: 280
go: ENSG00000117118;
drug: DB00139;DB08689;
location: SUBCELLULAR LOCATION: Mitochondrion inner membrane; Peripheral membrane protein; Matrix side.
name:
Succinate dehydrogenase [ubiquinone] iron-sulfur subunit, mitochondrial (EC 1.3.5.1) (Iron-sulfur subunit of complex II) (Ip)

sequence:

opentargets:
mitochondrial inner membrane [GO:0005743]; mitochondrial membrane [GO:0031966]; mitochondrial respiratory chain complex II, succinate dehydrogenase complex (ubiquinone) [GO:0005749]; mitochondrion [GO:0005739]; nucleoplasm [GO:0005654]; plasma membrane [GO:0005886]; 2 iron, 2 sulfur cluster binding [GO:0051537]; 3 iron, 4 sulfur cluster binding [GO:0051538]; 4 iron, 4 sulfur cluster binding [GO:0051539]; electron transfer activity [GO:0009055]; metal ion binding [GO:0046872]; succinate dehydrogenase (ubiquinone) activity [GO:0008177]; ubiquinone binding [GO:0048039]; aerobic respiration [GO:0009060]; respiratory electron transport chain [GO:0022904]; succinate metabolic process [GO:0006105]; tricarboxylic acid cycle [GO:0006099]

snps:
rs11203289 rs74315370 rs772551056 rs876659329 rs727504457 rs121917755 rs74315371 rs74315372 rs33927012 rs786202732 rs876658367 rs74315367 rs138996609 rs74315368 


uniprotID: Q7Z5N4
geneSymbol: SDK1
reactome: R-HSA-373756;
name: Protein sidekick-1
length: 2213
go: ENSG00000146555;
snps: rs11978101 rs671694
sequence:

opentargets:
cell junction [GO:0030054]; integral component of membrane [GO:0016021]; plasma membrane [GO:0005886]; synapse [GO:0045202]; identical protein binding [GO:0042802]; behavioral response to cocaine [GO:0048148]; cell-cell junction organization [GO:0045216]; homophilic cell adhesion via plasma membrane adhesion molecules [GO:0007156]; regulation of dendritic spine development [GO:0060998]; retina layer formation [GO:0010842]; synapse assembly [GO:0007416]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q7Z5N4-1; Sequence=Displayed; Name=2; IsoId=Q7Z5N4-2; Sequence=VSP_017517, VSP_017519; Note=No experimental confirmation available.; Name=3; IsoId=Q7Z5N4-3; Sequence=VSP_017518; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000250|UniProtKB:Q8AV58}; Single-pass type I membrane protein {ECO:0000250|UniProtKB:Q8AV58}. Cell junction, synapse {ECO:0000250|UniProtKB:Q8AV58}.


uniprotID: Q68CR1
geneSymbol: SEL1L3
name: Protein sel-1 homolog 3 (Suppressor of lin-12-like protein 3) (Sel-1L3)
length: 1132
go: ENSG00000091490;
opentargets: integral component of membrane [GO:0016021]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]
snps: rs16877661 rs16877591 rs16877591 rs2286866 rs7671168
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Single-pass membrane protein {ECO:0000305}.
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q68CR1-1; Sequence=Displayed; Name=2; IsoId=Q68CR1-2; Sequence=VSP_031812; Note=No experimental confirmation available.; Name=3; IsoId=Q68CR1-3; Sequence=VSP_031811; 


uniprotID: Q9BYH1
geneSymbol: SEZ6L
pdb: 2YRA;
name: Seizure 6-like protein
length: 1024
go: ENSG00000100095;
snps: rs6004989 rs137203 rs663048 rs586542
sequence:

opentargets:
endoplasmic reticulum membrane [GO:0005789]; integral component of membrane [GO:0016021]; neuronal cell body [GO:0043025]; adult locomotory behavior [GO:0008344]; cerebellar Purkinje cell layer development [GO:0021680]; regulation of protein kinase C signaling [GO:0090036]; synapse maturation [GO:0060074]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=7;  Comment=Experimental confirmation may be lacking for some isoforms.; Name=4; IsoId=Q9BYH1-1; Sequence=Displayed; Name=1; IsoId=Q9BYH1-2; Sequence=VSP_003976, VSP_003977, VSP_003980; Name=2; IsoId=Q9BYH1-3; Sequence=VSP_003976, VSP_003979, VSP_003980; Name=3; IsoId=Q9BYH1-4; Sequence=VSP_003981, VSP_003978; Name=5; IsoId=Q9BYH1-5; Sequence=VSP_013022; Name=6; IsoId=Q9BYH1-6; Sequence=VSP_003979; Name=7; IsoId=Q9BYH1-7; Sequence=VSP_003978; Note=No experimental confirmation available.; 


uniprotID: Q8IZD0
geneSymbol: SAMD14
name: Sterile alpha motif domain-containing protein 14 (SAM domain-containing protein 14)
length: 417
go: ENSG00000167100;
sequence:

opentargets:
actin cytoskeleton [GO:0015629]; cytoplasm [GO:0005737]; dendrite [GO:0030425]; postsynaptic density [GO:0014069]; actin filament binding [GO:0051015]; actin filament organization [GO:0007015]; calcium-mediated signaling [GO:0019722]; neuron projection development [GO:0031175]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q8IZD0-1; Sequence=Displayed; Name=2; IsoId=Q8IZD0-2; Sequence=VSP_020659; Note=No experimental confirmation available.; 


uniprotID: Q5TGI4
geneSymbol: SAMD5
name: Sterile alpha motif domain-containing protein 5 (SAM domain-containing protein 5)
length: 173
go: ENSG00000203727;
sequence:
MCTNIVYEWLKALQLPQYAESFVDNGYDDLEVCKQIGDPDLDAIGVLAPAHRRRILEAVRRLREQDANAAGLYFTLEPQPAPPGPPADAVPTGRRGEPCGGPAQGTRGDSRGHTTAPRSRELVSYPKLKLKIMIRDKLVRDGIHLSKPPYSRKVPMAGILEYLMNWPKSSQSR

opentargets:
mitogen-activated protein kinase kinase kinase binding [GO:0031435]; positive regulation of JUN kinase activity [GO:0043507]; positive regulation of NIK/NF-kappaB signaling [GO:1901224]


uniprotID: Q9UL12
geneSymbol: SARDH
reactome: R-HSA-6798163;
name: Sarcosine dehydrogenase, mitochondrial (SarDH) (EC 1.5.8.3) (BPR-2)
length: 918
go: ENSG00000123453;
snps: rs35559818 rs397514504 rs149481147 rs35218200 rs2073817 rs886016
location: SUBCELLULAR LOCATION: Mitochondrion matrix {ECO:0000250}.
sequence:

opentargets:
cytoplasm [GO:0005737]; mitochondrial matrix [GO:0005759]; mitochondrion [GO:0005739]; oxidoreductase activity [GO:0016491]; sarcosine dehydrogenase activity [GO:0008480]; choline catabolic process [GO:0042426]; sarcosine catabolic process [GO:1901053]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9UL12-1; Sequence=Displayed; Name=2; IsoId=Q9UL12-2; Sequence=VSP_056309; Note=No experimental confirmation available.; 


uniprotID: Q6SZW1
geneSymbol: SARM1
reactome: R-HSA-166166;R-HSA-168164;R-HSA-936964;R-HSA-937041;R-HSA-937072;
length: 724
go: ENSG00000004139;
snps: rs7212814
name:
Sterile alpha and TIR motif-containing protein 1 (Sterile alpha and Armadillo repeat protein) (Sterile alpha motif domain-containing protein 2) (MyD88-5) (SAM domain-containing protein 2) (Tir-1 homolog)

sequence:

opentargets:
axon [GO:0030424]; cell junction [GO:0030054]; cytoplasm [GO:0005737]; cytosol [GO:0005829]; dendrite [GO:0030425]; extrinsic component of mitochondrial outer membrane [GO:0031315]; microtubule [GO:0005874]; mitochondrion [GO:0005739]; synapse [GO:0045202]; signaling adaptor activity [GO:0035591]; innate immune response [GO:0045087]; negative regulation of MyD88-independent toll-like receptor signaling pathway [GO:0034128]; regulation of apoptotic process [GO:0042981]; regulation of dendrite morphogenesis [GO:0048814]; regulation of neuron death [GO:1901214]; response to axon injury [GO:0048678]; response to glucose [GO:0009749]; signal transduction [GO:0007165]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q6SZW1-1; Sequence=Displayed; Name=2; IsoId=Q6SZW1-2; Sequence=VSP_013603; 

location:
SUBCELLULAR LOCATION: Cytoplasm. Cell projection, axon {ECO:0000250}. Cell projection, dendrite {ECO:0000250}. Cell junction, synapse {ECO:0000250}. Mitochondrion. Note=Associated with microtubules. {ECO:0000250}.


uniprotID: Q9NQZ2
geneSymbol: UTP3
reactome: R-HSA-6790901;R-HSA-6791226;
length: 479
go: ENSG00000132467;
snps: rs16845385
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000250}.
name:
Something about silencing protein 10 (Charged amino acid-rich leucine zipper 1) (CRL1) (Disrupter of silencing SAS10) (UTP3 homolog)

sequence:

opentargets:
nucleolus [GO:0005730]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; small-subunit processome [GO:0032040]; RNA binding [GO:0003723]; brain development [GO:0007420]; chromatin organization [GO:0006325]; maturation of SSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) [GO:0000462]; rRNA processing [GO:0006364]


uniprotID: O00631
geneSymbol: SLN
reactome: R-HSA-5578775;R-HSA-936837;
pdb: 1JDM;
name: Sarcolipin
sequence: MGINTRELFLNFTIVLITVILMWLLVRSYQY
length: 31
go: ENSG00000170290;
opentargets:
integral component of membrane [GO:0016021]; sarcoplasmic reticulum [GO:0016529]; sarcoplasmic reticulum membrane [GO:0033017]; ATPase binding [GO:0051117]; enzyme inhibitor activity [GO:0004857]; calcium ion transport [GO:0006816]; negative regulation of calcium ion binding [GO:1901877]; negative regulation of calcium ion import [GO:0090281]; negative regulation of calcium ion transmembrane transporter activity [GO:1901020]; negative regulation of catalytic activity [GO:0043086]; negative regulation of protein complex disassembly [GO:0043242]; positive regulation of cold-induced thermogenesis [GO:0120162]; positive regulation of protein depolymerization [GO:1901881]; regulation of calcium ion transport [GO:0051924]; regulation of calcium-transporting ATPase activity [GO:1901894]; regulation of relaxation of muscle [GO:1901077]; sarcoplasmic reticulum calcium ion transport [GO:0070296]

location:
SUBCELLULAR LOCATION: Sarcoplasmic reticulum membrane {ECO:0000269|PubMed:11781085, ECO:0000269|PubMed:9575189}; Single-pass membrane protein {ECO:0000255}. Endoplasmic reticulum membrane {ECO:0000250|UniProtKB:P42532}; Single-pass membrane protein {ECO:0000250}.


uniprotID: O75995
geneSymbol: SASH3
name: SAM and SH3 domain-containing protein 3 (SH3 protein expressed in lymphocytes homolog)
length: 380
go: ENSG00000122122;
sequence:

opentargets:
cytoplasm [GO:0005737]; nucleus [GO:0005634]; homeostasis of number of cells within a tissue [GO:0048873]; positive regulation of adaptive immune response [GO:0002821]; positive regulation of B cell proliferation [GO:0030890]; positive regulation of CD4-positive, alpha-beta T cell differentiation [GO:0043372]; positive regulation of immunoglobulin production [GO:0002639]; positive regulation of interferon-gamma production [GO:0032729]; positive regulation of interleukin-10 production [GO:0032733]; positive regulation of interleukin-2 production [GO:0032743]; positive regulation of interleukin-4 production [GO:0032753]; positive regulation of organ growth [GO:0046622]; positive regulation of T cell cytokine production [GO:0002726]; positive regulation of T cell proliferation [GO:0042102]; positive regulation of tumor necrosis factor production [GO:0032760]


uniprotID: Q96F10
geneSymbol: SAT2
pdb: 2BEI;2Q4V;
length: 170
go: ENSG00000141504;
drug: DB00127;
snps: rs13894
location: SUBCELLULAR LOCATION: Cytoplasm. Note=Intracellular organelles.
name:
Diamine acetyltransferase 2 (EC 2.3.1.57) (Polyamine N-acetyltransferase 2) (Spermidine/spermine N(1)-acetyltransferase 2) (Thialysine N-epsilon-acetyltransferase)

sequence:
MASVRIREAKEGDCGDILRLIRELAEFEKLSDQVKISEEALRADGFGDNPFYHCLVAEILPAPGKLLGPCVVGYGIYYFIYSTWKGRTIYLEDIYVMPEYRGQGIGSKIIKKVAEVALDKGCSQFRLAVLDWNQRAMDLYKALGAQDLTEAEGWHFFCFQGEATRKLAGK

opentargets:
cytoplasm [GO:0005737]; extracellular exosome [GO:0070062]; diamine N-acetyltransferase activity [GO:0004145]; identical protein binding [GO:0042802]; N-acetyltransferase activity [GO:0008080]; spermidine binding [GO:0019809]; nor-spermidine metabolic process [GO:0046204]; putrescine acetylation [GO:0032920]; putrescine catabolic process [GO:0009447]; spermidine acetylation [GO:0032918]; spermine acetylation [GO:0032919]


uniprotID: A3KN83
geneSymbol: SBNO1
name: Protein strawberry notch homolog 1 (Monocyte protein 3) (MOP-3)
length: 1393
go: ENSG00000139697;
opentargets: nucleus [GO:0005634]; regulation of transcription, DNA-templated [GO:0006355]
snps: rs1060105 rs1060105
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=A3KN83-1; Sequence=Displayed; Name=2; IsoId=A3KN83-2; Sequence=VSP_030296; Note=No experimental confirmation available.; Name=3; IsoId=A3KN83-3; Sequence=VSP_030295; Note=No experimental confirmation available.; Name=4; IsoId=A3KN83-4; Sequence=VSP_030296, VSP_030297, VSP_030298; Note=No experimental confirmation available.; 


uniprotID: P0C263
geneSymbol: SBK2
length: 348
go: ENSG00000187550;
snps: rs34316437 rs56158623
name:
Serine/threonine-protein kinase SBK2 (EC 2.7.11.1) (SH3-binding domain kinase family member 2) (Sugen kinase 69) (SgK069)

sequence:

opentargets:
cytoplasm [GO:0005737]; ATP binding [GO:0005524]; protein serine/threonine kinase activity [GO:0004674]; Rac GTPase binding [GO:0048365]; activation of protein kinase activity [GO:0032147]; regulation of MAPK cascade [GO:0043408]; signal transduction by protein phosphorylation [GO:0023014]; stress-activated protein kinase signaling cascade [GO:0031098]


uniprotID: Q93073
geneSymbol: SECISBP2L
name: Selenocysteine insertion sequence-binding protein 2-like (SECIS-binding protein 2-like)
length: 1101
go: ENSG00000138593;
sequence:

opentargets:
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]; selenocysteine incorporation [GO:0001514]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q93073-1; Sequence=Displayed; Name=2; IsoId=Q93073-2; Sequence=VSP_016342; Note=No experimental confirmation available.; 


uniprotID: P0C7V7
geneSymbol: SEC11B
length: 166
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Single-pass type II membrane protein {ECO:0000305}.
name:
Putative signal peptidase complex catalytic subunit SEC11B (EC 3.4.21.89) (SEC11 homolog B) (SEC11-like protein 2)

sequence:
MNKWRLYYQVLNFGMIVSSALMIWKGLMVITGSESPIVLLSGSMEPAFHRGYLLFLTNRVEDPIRVGEIAVLRIEGRKIPIVHRVLKIHEKQNGHIKFLTKGDNNAVDDRGLYKQDQHWLEKKDVVGRARGFVPYIGIGTSLMNDYPKHKYEVLFLLGLFVLVHRE

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


uniprotID: O15027
geneSymbol: SEC16A
reactome: R-HSA-204005;
name: Protein transport protein Sec16A (SEC16 homolog A) (p250)
length: 2357
go: ENSG00000148396;
snps: rs3812594
sequence:

opentargets:
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]; Golgi apparatus [GO:0005794]; Golgi membrane [GO:0000139]; perinuclear region of cytoplasm [GO:0048471]; COPII vesicle coating [GO:0048208]; endoplasmic reticulum organization [GO:0007029]; Golgi organization [GO:0007030]; positive regulation of protein exit from endoplasmic reticulum [GO:0070863]; protein exit from endoplasmic reticulum [GO:0032527]; protein localization to endoplasmic reticulum exit site [GO:0070973]; protein localization to plasma membrane [GO:0072659]; protein stabilization [GO:0050821]; substantia nigra development [GO:0021762]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=5;  Name=1; IsoId=O15027-1; Sequence=Displayed; Name=2; IsoId=O15027-2; Sequence=VSP_015252; Note=No experimental confirmation available.; Name=3; IsoId=O15027-3; Sequence=VSP_015253; Note=No experimental confirmation available.; Name=4; IsoId=O15027-4; Sequence=VSP_034370; Name=5; IsoId=O15027-5; Sequence=VSP_036029; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Endoplasmic reticulum membrane {ECO:0000269|PubMed:17005010, ECO:0000269|PubMed:29300766}; Peripheral membrane protein {ECO:0000269|PubMed:17005010}. Golgi apparatus membrane {ECO:0000305}; Peripheral membrane protein {ECO:0000305}. Cytoplasm, perinuclear region {ECO:0000250|UniProtKB:E9QAT4}. Cytoplasm, cytosol {ECO:0000269|PubMed:17428803}. Microsome membrane {ECO:0000269|PubMed:17428803}. Note=SAR1A activity is required to maintain SEC16A localization at discrete locations on the ER membrane perhaps by preventing its dissociation (PubMed:17192411). Localizes to endoplasmic reticulum exit sites (ERES), also known as transitional endoplasmic reticulum (tER). MIA3 and LRRK2 are required for its proper localization to ERES (PubMed:25201882, PubMed:28442536, PubMed:19638414, PubMed:17428803). Recruited to microsomal membrane in SAR1-dependent manner (PubMed:17428803). {ECO:0000269|PubMed:17192411, ECO:0000269|PubMed:17428803, ECO:0000269|PubMed:19638414, ECO:0000269|PubMed:25201882, ECO:0000269|PubMed:28442536}.


uniprotID: Q9BRL7
geneSymbol: SEC22C
reactome: R-HSA-204005;
length: 303
go: ENSG00000093183;
name:
Vesicle-trafficking protein SEC22c (SEC22 vesicle-trafficking protein homolog C) (SEC22 vesicle-trafficking protein-like 3)

sequence:

opentargets:
endoplasmic reticulum [GO:0005783]; endoplasmic reticulum membrane [GO:0005789]; integral component of membrane [GO:0016021]; ER to Golgi vesicle-mediated transport [GO:0006888]; protein transport [GO:0015031]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q9BRL7-1; Sequence=Displayed; Name=2; IsoId=Q9BRL7-2; Sequence=VSP_032163, VSP_032164; Name=3; IsoId=Q9BRL7-3; Sequence=VSP_032161, VSP_032162; 

location:
SUBCELLULAR LOCATION: Endoplasmic reticulum membrane {ECO:0000269|PubMed:9501016}; Multi-pass membrane protein {ECO:0000269|PubMed:9501016}.


uniprotID: O95487
geneSymbol: SEC24B
reactome: R-HSA-1655829;R-HSA-204005;R-HSA-2132295;R-HSA-5694530;R-HSA-983170;
pdb: 3EH1;
name: Protein transport protein Sec24B (SEC24-related protein B)
length: 1268
go: ENSG00000138802;
snps: rs35705351
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]; aorta morphogenesis [GO:0035909]; auditory receptor cell stereocilium organization [GO:0060088]; cargo loading into COPII-coated vesicle [GO:0090110]; cochlear nucleus development [GO:0021747]; COPII vesicle coating [GO:0048208]; coronary artery morphogenesis [GO:0060982]; ER to Golgi vesicle-mediated transport [GO:0006888]; intracellular protein transport [GO:0006886]; lung lobe morphogenesis [GO:0060463]; neural tube closure [GO:0001843]; outflow tract morphogenesis [GO:0003151]; pulmonary artery morphogenesis [GO:0061156]; regulation of cargo loading into COPII-coated vesicle [GO:1901301]; regulation of establishment of planar polarity involved in neural tube closure [GO:0090178]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=O95487-1; Sequence=Displayed; Name=2; IsoId=O95487-2; Sequence=VSP_035987; Name=3; IsoId=O95487-3; Sequence=VSP_054432, VSP_054433; Note=No experimental confirmation available. {ECO:0000244|PubMed:24275569}; 

location:
SUBCELLULAR LOCATION: Cytoplasmic vesicle, COPII-coated vesicle membrane {ECO:0000269|PubMed:10075675}; Peripheral membrane protein {ECO:0000305|PubMed:10075675}; Cytoplasmic side {ECO:0000305|PubMed:10075675}. Endoplasmic reticulum membrane {ECO:0000269|PubMed:10075675}; Peripheral membrane protein {ECO:0000269|PubMed:10075675}; Cytoplasmic side {ECO:0000269|PubMed:10075675}. Cytoplasm, cytosol {ECO:0000269|PubMed:10075675}.


uniprotID: P53992
geneSymbol: SEC24C
reactome: R-HSA-1655829;R-HSA-204005;R-HSA-2132295;R-HSA-5694530;R-HSA-983170;
pdb: 3EH2;
name: Protein transport protein Sec24C (SEC24-related protein C)
length: 1094
go: ENSG00000176986;
snps: rs17851695 rs16930872
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]; 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]; intracellular protein transport [GO:0006886]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P53992-1; Sequence=Displayed; Name=2; IsoId=P53992-2; Sequence=VSP_056516; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasmic vesicle, COPII-coated vesicle membrane {ECO:0000269|PubMed:10075675, ECO:0000269|PubMed:10329445}; Peripheral membrane protein {ECO:0000269|PubMed:10075675}; Cytoplasmic side {ECO:0000269|PubMed:10075675}. Endoplasmic reticulum membrane {ECO:0000269|PubMed:10075675, ECO:0000269|PubMed:10329445}; Peripheral membrane protein {ECO:0000269|PubMed:10075675}; Cytoplasmic side {ECO:0000269|PubMed:10075675}. Cytoplasm, cytosol {ECO:0000269|PubMed:10075675}.


uniprotID: Q9NY91
geneSymbol: SLC5A4
reactome: R-HSA-189200;
name: Solute carrier family 5 member 4
length: 659
go: ENSG00000100191;
snps: rs16990065 rs2235171
sequence:

opentargets:
integral component of membrane [GO:0016021]; plasma membrane [GO:0005886]; glucose:sodium symporter activity [GO:0005412]; sodium ion transport [GO:0006814]

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:13130073, ECO:0000305|PubMed:17110502, ECO:0000305|PubMed:20421923, ECO:0000305|PubMed:22766068}; Multi-pass membrane protein {ECO:0000255}.


uniprotID: O94979
geneSymbol: SEC31A
reactome: R-HSA-204005;R-HSA-2132295;R-HSA-381038;R-HSA-983170;
pdb: 3WXA;
length: 1220
go: ENSG00000138674;
snps: rs34554214 rs3797036 rs35579207 rs35739017
name:
Protein transport protein Sec31A (ABP125) (ABP130) (SEC31-like protein 1) (SEC31-related protein A) (Web1-like protein)

sequence:

opentargets:
COPII vesicle coat [GO:0030127]; COPII-coated ER to Golgi transport vesicle [GO:0030134]; cytoplasm [GO:0005737]; 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]; Golgi membrane [GO:0000139]; intracellular membrane-bounded organelle [GO:0043231]; perinuclear region of cytoplasm [GO:0048471]; vesicle coat [GO:0030120]; calcium-dependent protein binding [GO:0048306]; 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]; ER to Golgi vesicle-mediated transport [GO:0006888]; intracellular protein transport [GO:0006886]; IRE1-mediated unfolded protein response [GO:0036498]; response to calcium ion [GO:0051592]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=10;  Name=1; IsoId=O94979-1; Sequence=Displayed; Name=2; IsoId=O94979-2; Sequence=VSP_026750; Name=3; IsoId=O94979-3; Sequence=VSP_026748, VSP_026749; Name=4; IsoId=O94979-4; Sequence=VSP_026744; Name=5; IsoId=O94979-5; Sequence=VSP_026745, VSP_026746; Note=No experimental confirmation available.; Name=6; IsoId=O94979-6; Sequence=VSP_026744, VSP_026748, VSP_026749; Name=7; IsoId=O94979-7; Sequence=VSP_026742, VSP_026743, VSP_026744, VSP_026747, VSP_026750; Note=No experimental confirmation available.; Name=8; IsoId=O94979-8; Sequence=VSP_026751; Name=9; IsoId=O94979-9; Sequence=VSP_044602, VSP_026750; Note=No experimental confirmation available.; Name=10; IsoId=O94979-10; Sequence=VSP_026744, VSP_026750; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250}. Cytoplasmic vesicle, COPII-coated vesicle membrane {ECO:0000269|PubMed:10788476, ECO:0000269|PubMed:16957052, ECO:0000269|PubMed:22358839, ECO:0000269|PubMed:27716508}; Peripheral membrane protein; Cytoplasmic side. Endoplasmic reticulum membrane {ECO:0000250}; Peripheral membrane protein {ECO:0000250}. Cytoplasm, cytosol {ECO:0000269|PubMed:17428803}. Note=Associates with membranes in a GTP-dependent manner (By similarity). Localizes to endoplasmic reticulum exit sites (ERES), also known as transitional endoplasmic reticulum (tER) (PubMed:25201882, PubMed:28442536, PubMed:17428803). {ECO:0000250|UniProtKB:Q9Z2Q1, ECO:0000269|PubMed:17428803, ECO:0000269|PubMed:25201882, ECO:0000269|PubMed:28442536}.


uniprotID: Q9NQW1
geneSymbol: SEC31B
name: Protein transport protein Sec31B (SEC31-like protein 2) (SEC31-related protein B) (SEC31B-1)
length: 1179
go: ENSG00000075826;
snps: rs3763695 rs7074707 rs3793706 rs2295774 rs2295772 rs2295771 rs11819496 rs17113157 rs2298075
sequence:

opentargets:
COPII vesicle coat [GO:0030127]; endoplasmic reticulum exit site [GO:0070971]; endoplasmic reticulum membrane [GO:0005789]; Golgi membrane [GO:0000139]; vesicle coat [GO:0030120]; structural molecule activity [GO:0005198]; cargo loading into COPII-coated vesicle [GO:0090110]; COPII-coated vesicle budding [GO:0090114]; ER to Golgi vesicle-mediated transport [GO:0006888]; intracellular protein transport [GO:0006886]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=5;  Name=1; Synonyms=SEC31B-F; IsoId=Q9NQW1-1; Sequence=Displayed; Name=2; IsoId=Q9NQW1-2; Sequence=VSP_026759, VSP_026760, VSP_026761; Note=May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.; Name=3; IsoId=Q9NQW1-3; Sequence=VSP_026757, VSP_026758; Name=4; Synonyms=SEC31B-t; IsoId=Q9NQW1-4; Sequence=VSP_026762, VSP_026763; Name=5; IsoId=Q9NQW1-5; Sequence=VSP_026759; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:16495487}. Cytoplasmic vesicle, COPII-coated vesicle membrane {ECO:0000269|PubMed:16495487}; Peripheral membrane protein {ECO:0000269|PubMed:16495487}; Cytoplasmic side {ECO:0000269|PubMed:16495487}. Endoplasmic reticulum membrane {ECO:0000269|PubMed:16495487}; Peripheral membrane protein {ECO:0000269|PubMed:16495487}.


uniprotID: Q9Y345
geneSymbol: SLC6A5
reactome: R-HSA-442660;R-HSA-5619089;
length: 797
go: ENSG00000165970;
drug: DB00145;
name:
Sodium- and chloride-dependent glycine transporter 2 (GlyT-2) (GlyT2) (Solute carrier family 6 member 5)

sequence:

opentargets:
glycinergic synapse [GO:0098690]; integral component of membrane [GO:0016021]; integral component of presynaptic membrane [GO:0099056]; plasma membrane [GO:0005886]; glycine:sodium symporter activity [GO:0015375]; metal ion binding [GO:0046872]; chemical synaptic transmission [GO:0007268]; glycine import across plasma membrane [GO:1903804]; synaptic transmission, glycinergic [GO:0060012]

snps:
rs61736602 rs1443547 rs1443548 rs34243519 rs1443549 rs121908496 rs121908498 rs3740870 rs1805091 rs121908494 rs7944684 rs121908497 rs281864926 rs16906628 

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:10381548, ECO:0000269|PubMed:10606742, ECO:0000269|PubMed:9845349}; Multi-pass membrane protein {ECO:0000250|UniProtKB:Q7K4Y6}.


uniprotID: Q9BY12
geneSymbol: SCAPER
length: 1400
go: ENSG00000140386;
snps: rs1607017 rs3743176 rs3743176
name:
S phase cyclin A-associated protein in the endoplasmic reticulum (S phase cyclin A-associated protein in the ER) (Zinc finger protein 291)

sequence:

opentargets:
cytosol [GO:0005829]; endoplasmic reticulum [GO:0005783]; nucleus [GO:0005634]; nucleic acid binding [GO:0003676]; zinc ion binding [GO:0008270]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q9BY12-1; Sequence=Displayed; Name=2; IsoId=Q9BY12-2; Sequence=VSP_031440, VSP_031441, VSP_031442, VSP_031443; Note=Incomplete sequence. No experimental confirmation available.; Name=3; IsoId=Q9BY12-3; Sequence=VSP_046503; 

location:
SUBCELLULAR LOCATION: Endoplasmic reticulum {ECO:0000269|PubMed:17698606}. Nucleus {ECO:0000269|PubMed:17698606}. Note=Predominantly located in the endoplasmic reticulum, only a small portion is detected in the nucleus.


uniprotID: Q12770
geneSymbol: SCAP
reactome: R-HSA-1655829;
length: 1279
go: ENSG00000114650;
snps: rs12487736
name:
Sterol regulatory element-binding protein cleavage-activating protein (SCAP) (SREBP cleavage-activating protein)

sequence:

opentargets:
endoplasmic reticulum [GO:0005783]; endoplasmic reticulum membrane [GO:0005789]; ER to Golgi transport vesicle membrane [GO:0012507]; Golgi apparatus [GO:0005794]; Golgi membrane [GO:0000139]; integral component of membrane [GO:0016021]; protein-containing complex [GO:0032991]; cholesterol binding [GO:0015485]; protein-containing complex binding [GO:0044877]; unfolded protein binding [GO:0051082]; aging [GO:0007568]; cellular lipid metabolic process [GO:0044255]; cholesterol metabolic process [GO:0008203]; immune response [GO:0006955]; negative regulation of cholesterol biosynthetic process [GO:0045541]; positive regulation of low-density lipoprotein particle receptor biosynthetic process [GO:0045716]; regulation of fatty acid biosynthetic process [GO:0042304]; response to hypoxia [GO:0001666]; response to insulin [GO:0032868]; SREBP signaling pathway [GO:0032933]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=Q12770-1; Sequence=Displayed; Name=2; IsoId=Q12770-2; Sequence=VSP_007451, VSP_021106; Note=No experimental confirmation available.; Name=3; IsoId=Q12770-3; Sequence=VSP_007452; Note=No experimental confirmation available.; Name=4; IsoId=Q12770-4; Sequence=VSP_021105, VSP_021106; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Endoplasmic reticulum membrane {ECO:0000250}; Multi-pass membrane protein {ECO:0000250}. Golgi apparatus membrane {ECO:0000250}; Multi-pass membrane protein {ECO:0000250}. Cytoplasmic vesicle, COPII-coated vesicle membrane {ECO:0000250}; Multi-pass membrane protein {ECO:0000250}. Note=Moves from the endoplasmic reticulum to the Golgi in the absence of sterols. {ECO:0000250}.


uniprotID: Q8WVM8
geneSymbol: SCFD1
reactome: R-HSA-204005;
name: Sec1 family domain-containing protein 1 (SLY1 homolog) (Sly1p) (Syntaxin-binding protein 1-like 2)
length: 642
go: ENSG00000092108;
snps: rs229150
sequence:

opentargets:
cis-Golgi network [GO:0005801]; cytosol [GO:0005829]; endoplasmic reticulum membrane [GO:0005789]; Golgi cisterna membrane [GO:0032580]; Golgi-associated vesicle [GO:0005798]; plasma membrane [GO:0005886]; protein N-terminus binding [GO:0047485]; protein-containing complex binding [GO:0044877]; syntaxin binding [GO:0019905]; cell morphogenesis [GO:0000902]; COPII vesicle coating [GO:0048208]; negative regulation of autophagosome assembly [GO:1902902]; post-Golgi vesicle-mediated transport [GO:0006892]; protein transport [GO:0015031]; regulation of ER to Golgi vesicle-mediated transport [GO:0060628]; regulation of protein transport [GO:0051223]; response to hypoxia [GO:0001666]; response to toxic substance [GO:0009636]; retrograde vesicle-mediated transport, Golgi to ER [GO:0006890]; toxin transport [GO:1901998]; vesicle docking involved in exocytosis [GO:0006904]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q8WVM8-1; Sequence=Displayed; Name=2; IsoId=Q8WVM8-2; Sequence=VSP_047070; Name=3; IsoId=Q8WVM8-3; Sequence=VSP_047071; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250}. Endoplasmic reticulum membrane {ECO:0000250}; Peripheral membrane protein {ECO:0000250}. Golgi apparatus, Golgi stack membrane {ECO:0000250}; Peripheral membrane protein {ECO:0000250}.


uniprotID: Q8WU76
geneSymbol: SCFD2
name: Sec1 family domain-containing protein 2 (Syntaxin-binding protein 1-like 1)
length: 684
go: ENSG00000184178;
opentargets: protein transport [GO:0015031]; vesicle docking involved in exocytosis [GO:0006904]
snps: rs7675987
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q8WU76-1; Sequence=Displayed; Name=2; IsoId=Q8WU76-2; Sequence=VSP_010710; Note=No experimental confirmation available.; 


uniprotID: A0A286YF60
geneSymbol: SCYGR3
name: Small cysteine and glycine repeat-containing protein 3 (Keratin-associated protein 28-3)
length: 100
opentargets: intermediate filament [GO:0005882]
sequence:
MGCCGCGSCGGCGGGCGGCGGGCGGGCGGGCGGVCGSCTTCRCYRVGCCSSCCPCCRGCCGGCCSTPVICCCRRTCRSCGCGCRKGCCQQKCCCQKQCCC


uniprotID: A0A286YEV6
geneSymbol: SCYGR4
name: Small cysteine and glycine repeat-containing protein 4 (Keratin-associated protein 28-4)
length: 105
opentargets: intermediate filament [GO:0005882]
sequence:
MGCCGCGSCGGCGGRCGGGCGGGCSGGCGGGCGGGCGGGCGSCTTCRCYRVGCCSSCCPCCRGCCGGCCSTPVICCCRRTCGSCGCGYGKGCCQQKCCCQKQCCC


uniprotID: A0A286YF77
geneSymbol: SCYGR6
name: Small cysteine and glycine repeat-containing protein 6 (Keratin-associated protein 28-6)
length: 105
opentargets: intermediate filament [GO:0005882]
sequence:
MGCCGCGGCGGGCGGCGGGCSGGCGGGCGGGCGSCTTCRCYRVGCCSSCCPCCRGCCGGCCSTPVICCCRRTCHSCGCGCGCGKGCCQQKGCCQQKGCCKKQCCC


uniprotID: A0A286YFG1
geneSymbol: SCYGR8
name: Small cysteine and glycine repeat-containing protein 8 (Keratin-associated protein 28-8)
length: 108
opentargets: intermediate filament [GO:0005882]
sequence:
MGCCGCGGCGGGCGGCSGGCGGGCGGGCGGGGCGGGCGSCTTCRCYRVGCCSSCCPCCRGCCGGCCSTPVICCCRRTCSSCGCGYGKGCCQQKGCCQQKCCCQKQCCC


uniprotID: P0DPB3
geneSymbol: SCHIP1
name: Schwannomin-interacting protein 1 (SCHIP-1)
length: 487
go: ENSG00000151967;ENSG00000283154;
opentargets: cytoplasm [GO:0005737]; identical protein binding [GO:0042802]
snps: rs3732851 rs17850021
location: SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:10669747}.
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=6;  Name=SCHIP1-1; Synonyms=SCHIP-1 {ECO:0000303|PubMed:10669747}, SCHIP-1a {ECO:0000303|PubMed:25950943}; IsoId=P0DPB3-1, Q9P0W5-1; Sequence=Displayed; Name=SCHIP1-2; Synonyms=SCHIP-1-D241/253 {ECO:0000303|PubMed:10669747}; IsoId=P0DPB3-2, Q9P0W5-2; Sequence=VSP_025829; Name=SCHIP1-3; Synonyms=SCHIP-1-D22/253 {ECO:0000303|PubMed:10669747}; IsoId=P0DPB3-3, Q9P0W5-3; Sequence=VSP_025828; Name=SCHIP1-4; IsoId=P0DPB3-4, Q9P0W5-4; Sequence=VSP_025827, VSP_025830; Name=IQCJ-SCHIP1-1; IsoId=B3KU38-1; Sequence=External; Note=Based on a naturally occurring readthrough transcript which produces an IQCJ-SCHIP1 fusion protein. {ECO:0000269|PubMed:17045569}; Name=IQCJ-SCHIP1-2; IsoId=B3KU38-2; Sequence=External; Note=Based on a naturally occurring readthrough transcript which produces an IQCJ-SCHIP1 fusion protein. {ECO:0000269|PubMed:17045569}; 


uniprotID: P13521
geneSymbol: SCG2
reactome: R-HSA-381426;R-HSA-8957275;
length: 617
go: ENSG00000171951;
snps: rs16864976 rs1438157 rs17852053 rs17856669 rs17852054 rs36043001
location: SUBCELLULAR LOCATION: Secreted. Note=Neuroendocrine and endocrine secretory granules.
name:
Secretogranin-2 (Chromogranin-C) (Secretogranin II) (SgII) [Cleaved into: Secretoneurin (SN); Manserin]

sequence:

opentargets:
endoplasmic reticulum lumen [GO:0005788]; extracellular space [GO:0005615]; neuronal dense core vesicle [GO:0098992]; secretory granule [GO:0030141]; chemoattractant activity [GO:0042056]; cytokine activity [GO:0005125]; angiogenesis [GO:0001525]; cellular protein metabolic process [GO:0044267]; endothelial cell migration [GO:0043542]; eosinophil chemotaxis [GO:0048245]; induction of positive chemotaxis [GO:0050930]; inflammatory response [GO:0006954]; intracellular signal transduction [GO:0035556]; MAPK cascade [GO:0000165]; negative regulation of endothelial cell apoptotic process [GO:2000352]; negative regulation of endothelial cell proliferation [GO:0001937]; negative regulation of extrinsic apoptotic signaling pathway [GO:2001237]; positive chemotaxis [GO:0050918]; positive regulation of endothelial cell proliferation [GO:0001938]; post-translational protein modification [GO:0043687]; protein secretion [GO:0009306]


uniprotID: Q8WXD2
geneSymbol: SCG3
reactome: R-HSA-114608;R-HSA-381426;R-HSA-8957275;
name: Secretogranin-3 (Secretogranin III) (SgIII)
length: 468
go: ENSG00000104112;
snps: rs2305710 rs17851186 rs35664837
sequence:

opentargets:
endoplasmic reticulum lumen [GO:0005788]; extracellular region [GO:0005576]; secretory granule lumen [GO:0034774]; transport vesicle membrane [GO:0030658]; RNA binding [GO:0003723]; cellular protein metabolic process [GO:0044267]; platelet degranulation [GO:0002576]; post-translational protein modification [GO:0043687]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q8WXD2-1; Sequence=Displayed; Name=2; IsoId=Q8WXD2-2; Sequence=VSP_042876; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasmic vesicle, secretory vesicle lumen {ECO:0000250}. Cytoplasmic vesicle, secretory vesicle membrane {ECO:0000250}; Peripheral membrane protein {ECO:0000250}. Secreted. Note=Associated with the secretory granule membrane through direct binding to cholesterol-enriched lipid rafts in intragranular conditions (By similarity). Neuroendocrine and endocrine secretory granules. {ECO:0000250}.


uniprotID: Q8N228
geneSymbol: SCML4
name: Sex comb on midleg-like protein 4
length: 414
go: ENSG00000146285;
opentargets: nucleoplasm [GO:0005654]
snps: rs6934505
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000305}.
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q8N228-1; Sequence=Displayed; Name=2; IsoId=Q8N228-2; Sequence=VSP_033943; Name=3; IsoId=Q8N228-3; Sequence=VSP_033944, VSP_033945, VSP_033946; 


uniprotID: O14828
geneSymbol: SCAMP3
name: Secretory carrier-associated membrane protein 3 (Secretory carrier membrane protein 3)
length: 347
go: ENSG00000116521;
snps: rs760073 rs1318328 rs909106 rs909107
location: SUBCELLULAR LOCATION: Membrane; Multi-pass membrane protein.
sequence:

opentargets:
extracellular exosome [GO:0070062]; Golgi apparatus [GO:0005794]; Golgi membrane [GO:0000139]; integral component of membrane [GO:0016021]; intracellular membrane-bounded organelle [GO:0043231]; recycling endosome membrane [GO:0055038]; trans-Golgi network membrane [GO:0032588]; ubiquitin protein ligase binding [GO:0031625]; post-Golgi vesicle-mediated transport [GO:0006892]; protein transport [GO:0015031]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=O14828-1; Sequence=Displayed; Name=2; IsoId=O14828-2; Sequence=VSP_004381; Note=No experimental confirmation available.; 


uniprotID: P35498
geneSymbol: SCN1A
reactome: R-HSA-445095;R-HSA-5576892;
length: 2009
go: ENSG00000144285;
drug: DB04855;DB01595;DB04930;DB01121;DB01438;DB00252;DB05232;DB00273;DB00313;DB00909;
name:
Sodium channel protein type 1 subunit alpha (Sodium channel protein brain I subunit alpha) (Sodium channel protein type I subunit alpha) (Voltage-gated sodium channel subunit alpha Nav1.1)

sequence:

opentargets:
axon [GO:0030424]; axon initial segment [GO:0043194]; intercalated disc [GO:0014704]; neuronal cell body [GO:0043025]; node of Ranvier [GO:0033268]; nuclear body [GO:0016604]; nucleoplasm [GO:0005654]; plasma membrane [GO:0005886]; T-tubule [GO:0030315]; voltage-gated sodium channel complex [GO:0001518]; Z disc [GO:0030018]; voltage-gated ion channel activity [GO:0005244]; voltage-gated sodium channel activity [GO:0005248]; adult walking behavior [GO:0007628]; cardiac muscle cell action potential involved in contraction [GO:0086002]; detection of mechanical stimulus involved in sensory perception of pain [GO:0050966]; membrane depolarization during action potential [GO:0086010]; neuromuscular process controlling posture [GO:0050884]; neuronal action potential [GO:0019228]; neuronal action potential propagation [GO:0019227]; regulation of ion transmembrane transport [GO:0034765]; sodium ion transmembrane transport [GO:0035725]; sodium ion transport [GO:0006814]

snps:
rs121917906 rs531894715 rs121917907 rs758871507 rs121917931 rs121917933 rs121917982 rs121917964 rs121918733 rs121918734 rs121917918 rs121917965 rs121918743 rs796053089 rs121918745 rs794726711 rs121917959 rs121918761 rs148442069 rs121918631 rs121917934 rs121918766 rs121918767 rs121918770 rs121917953 rs121918773 rs121918762 rs121917935 rs121917983 rs121917936 rs970867558 rs121917984 rs121917984 rs121917937 rs1057519530 rs121917985 rs121917909 rs794726755 rs121918780 rs121918735 rs121918749 rs121917938 rs796052964 rs121918771 rs121917928 rs794726797 rs121918753 rs794726782 rs121917920 rs121917923 rs794726713 rs1131691465 rs121917958 rs121917957 rs121917939 rs1057523858 rs121918781 rs121917929 rs121917927 rs121917929 rs121917988 rs121917966 rs121918768 rs121917967 rs121917989 rs796052973 rs121917940 rs121918817 rs121918769 rs1057519529 rs121917990 rs1260934774 rs121917968 rs796053095 rs121918782 rs121918782 rs121918758 rs121917941 rs121917942 rs121918784 rs398123588 rs121918785 rs121918623 rs121918623 rs745378416 rs121918787 rs141950573 rs794726811 rs121918788 rs794726718 rs121918774 rs121918795 rs121918736 rs1057521080 rs121917943 rs121917969 rs121917970 rs121918775 rs121917971 rs121918775 rs121917972 rs121918737 rs121918786 rs121917917 rs121918796 rs121918750 rs121917991 rs121918754 rs121918756 rs121918747 rs121918625 rs1484321812 rs375909896 rs121918759 rs121918818 rs2298771 rs753452775 rs121918799 rs121917930 rs121917963 rs121918738 rs566081370 rs121918746 rs121918800 rs121917911 rs121917973 rs121917912 rs140731963 rs121918739 rs121918752 rs121918794 rs121918626 rs121918740 rs121917910 rs121918801 rs121918803 rs121917960 rs794726789 rs121917954 rs121918776 rs121917961 rs121918805 rs121918760 rs1131691775 rs121917986 rs121917987 rs121917925 rs121917913 rs121917944 rs121918627 rs121918741 rs121917908 rs121918789 rs121917974 rs121918806 rs121918790 rs121917945 rs796053012 rs121918772 rs121917962 rs121917946 rs121917924 rs121917947 rs121917996 rs121918633 rs121918628 rs121918632 rs121918764 rs780360360 rs121917992 rs121917975 rs121918807 rs121918742 rs121917919 rs121917993 rs575368466 rs1057519533 rs121917915 rs121918630 rs121918808 rs373967247 rs121917914 rs121918755 rs121917995 rs121918810 rs1057521079 rs1131691581 rs121917976 rs121918791 rs121918622 rs121917955 rs121918811 rs121917994 rs121917922 rs121917922 rs1131691675 rs121918797 rs794726839 rs121918765 rs1131691774 rs121917948 rs121918792 rs121918744 rs121918744 rs121917932 rs121918778 rs121918777 rs121917977 rs121918629 rs121918816 rs121917949 rs121917926 rs121917978 rs121917979 rs121918812 rs121918798 rs121918809 rs121917950 rs121917951 rs121917952 rs121918779 rs121918763 rs121917980 rs121917921 rs121917916 rs1381184010 rs121918813 rs121918757 rs121918751 rs121918748 rs121918783 rs1057517958 rs121918814 rs121918815 rs1131691773 rs201905405 rs121918804 rs121918793 rs121917981 rs121917956 rs35735053 rs121918802 rs756519197 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=P35498-1; Sequence=Displayed; Name=2; IsoId=P35498-2; Sequence=VSP_001031; Name=3; IsoId=P35498-3; Sequence=VSP_045399; 

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:17928445}; Multi-pass membrane protein {ECO:0000250|UniProtKB:D0E0C2}.


uniprotID: Q99250
geneSymbol: SCN2A
reactome: R-HSA-445095;R-HSA-5576892;
pdb: 2KAV;4JPZ;4RLY;
length: 2005
go: ENSG00000136531;
drug: DB00555;DB00818;DB05232;DB00313;DB00909;
name:
Sodium channel protein type 2 subunit alpha (HBSC II) (Sodium channel protein brain II subunit alpha) (Sodium channel protein type II subunit alpha) (Voltage-gated sodium channel subunit alpha Nav1.2)

sequence:

opentargets:
axon [GO:0030424]; glutamatergic synapse [GO:0098978]; integral component of plasma membrane [GO:0005887]; integral component of presynaptic membrane [GO:0099056]; intercalated disc [GO:0014704]; intracellular [GO:0005622]; intrinsic component of plasma membrane [GO:0031226]; node of Ranvier [GO:0033268]; paranode region of axon [GO:0033270]; plasma membrane [GO:0005886]; sodium channel complex [GO:0034706]; T-tubule [GO:0030315]; voltage-gated sodium channel complex [GO:0001518]; voltage-gated ion channel activity [GO:0005244]; voltage-gated sodium channel activity [GO:0005248]; intrinsic apoptotic signaling pathway in response to osmotic stress [GO:0008627]; membrane depolarization during action potential [GO:0086010]; myelination [GO:0042552]; neuron apoptotic process [GO:0051402]; neuronal action potential [GO:0019228]; regulation of ion transmembrane transport [GO:0034765]; sodium ion transmembrane transport [GO:0035725]; sodium ion transport [GO:0006814]

snps:
rs17183814 rs1376337813 rs121917748 rs1057519525 rs121917752 rs1235044536 rs1057519528 rs387906687 rs1057520413 rs387906686 rs781204054 rs2228988 rs796053183 rs186154973 rs986167267 rs794727152 rs121917751 rs1057519526 rs796053119 rs2228980 rs796053197 rs796053124 rs796053126 rs121917754 rs373780066 rs387906684 rs1184922927 rs796053130 rs121917753 rs1057519523 rs796053131 rs121917749 rs796053134 rs1057519527 rs1382026643 rs796053137 rs387906685 rs147522594 rs1057519524 rs1163751310 rs121917750 rs886041259 rs767224097 rs138497939 rs796053166 rs794727444 rs794727444 rs201718767 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; Synonyms=Adult, 6A; IsoId=Q99250-1; Sequence=Displayed; Name=2; Synonyms=Neonatal, 6N; IsoId=Q99250-2; Sequence=VSP_001032; 

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:1325650}; Multi-pass membrane protein {ECO:0000269|PubMed:1325650}.


uniprotID: O60939
geneSymbol: SCN2B
reactome: R-HSA-445095;R-HSA-5576892;
pdb: 5FDY;5FEB;
name: Sodium channel subunit beta-2
length: 215
go: ENSG00000149575;
drug: DB00313;DB00909;
snps: rs72544145 rs17121819 rs17121818 rs587777023
location: SUBCELLULAR LOCATION: Membrane; Single-pass type I membrane protein.
sequence:

opentargets:
voltage-gated sodium channel complex [GO:0001518]; sodium channel regulator activity [GO:0017080]; voltage-gated ion channel activity [GO:0005244]; voltage-gated sodium channel activity involved in cardiac muscle cell action potential [GO:0086006]; cardiac muscle cell action potential involved in contraction [GO:0086002]; cardiac muscle contraction [GO:0060048]; chemical synaptic transmission [GO:0007268]; membrane depolarization during cardiac muscle cell action potential [GO:0086012]; nervous system development [GO:0007399]; 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]; response to pyrethroid [GO:0046684]; sodium ion transmembrane transport [GO:0035725]


uniprotID: Q9NY46
geneSymbol: SCN3A
reactome: R-HSA-445095;R-HSA-5576892;
length: 2000
go: ENSG00000153253;
drug: DB06218;DB05232;DB00313;DB00909;
name:
Sodium channel protein type 3 subunit alpha (Sodium channel protein brain III subunit alpha) (Sodium channel protein type III subunit alpha) (Voltage-gated sodium channel subtype III) (Voltage-gated sodium channel subunit alpha Nav1.3)

sequence:

opentargets:
axon [GO:0030424]; cytoplasm [GO:0005737]; 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]; sodium ion transmembrane transport [GO:0035725]; sodium ion transport [GO:0006814]

snps:
rs774195502 rs755440336 rs1057518801 rs140990288 rs12474273 rs758906955 rs1312429782 rs1170839078 rs3731762 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Comment=Exons 6A and 6N only differ by a single residue.; Name=1; Synonyms=6A-12+12b; IsoId=Q9NY46-1; Sequence=Displayed; Name=2; Synonyms=6A-12; IsoId=Q9NY46-2; Sequence=VSP_001034; Name=3; Synonyms=6N-12+12b; IsoId=Q9NY46-3; Sequence=VSP_001033; Name=4; Synonyms=6N-12; IsoId=Q9NY46-4; Sequence=VSP_001033, VSP_001034; 

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:28235671}; Multi-pass membrane protein {ECO:0000250|UniProtKB:D0E0C2}.


uniprotID: Q9BV35
geneSymbol: SLC25A23
length: 468
go: ENSG00000125648;
name:
Calcium-binding mitochondrial carrier protein SCaMC-3 (Mitochondrial ATP-Mg/Pi carrier protein 2) (Mitochondrial Ca(2+)-dependent solute carrier protein 2) (Small calcium-binding mitochondrial carrier protein 3) (Solute carrier family 25 member 23)

sequence:

opentargets:
integral component of membrane [GO:0016021]; mitochondrial inner membrane [GO:0005743]; mitochondrion [GO:0005739]; ATP transmembrane transporter activity [GO:0005347]; calcium ion binding [GO:0005509]; calcium import into the mitochondrion [GO:0036444]; cellular response to calcium ion [GO:0071277]; mitochondrial calcium ion transmembrane transport [GO:0006851]; regulation of cellular respiration [GO:0043457]; regulation of oxidative phosphorylation [GO:0002082]; regulation of sequestering of calcium ion [GO:0051282]; urea homeostasis [GO:0097274]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; Synonyms=SCaMC-3a; IsoId=Q9BV35-1; Sequence=Displayed; Name=2; Synonyms=SCaMC-3b; IsoId=Q9BV35-2; Sequence=VSP_031075; Name=3; Synonyms=SCaMC-3c; IsoId=Q9BV35-3; Sequence=VSP_031074, VSP_031076; Note=May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.; Name=4; Synonyms=SCaMC-3d; IsoId=Q9BV35-4; Sequence=VSP_031076; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Mitochondrion inner membrane {ECO:0000269|PubMed:15054102, ECO:0000269|PubMed:15123600, ECO:0000269|PubMed:15716113}; Multi-pass membrane protein {ECO:0000269|PubMed:15054102, ECO:0000269|PubMed:15123600, ECO:0000269|PubMed:15716113}.


uniprotID: Q9NY72
geneSymbol: SCN3B
reactome: R-HSA-445095;R-HSA-5576892;
pdb: 4L1D;
name: Sodium channel subunit beta-3
length: 215
go: ENSG00000166257;
drug: DB00313;DB00909;
snps: rs587777558 rs121918282 rs587777555 rs35174956 rs587777556 rs587777557 rs375755770
location: SUBCELLULAR LOCATION: Membrane; Single-pass type I membrane protein.
sequence:

opentargets:
integral component of membrane [GO:0016021]; plasma membrane [GO:0005886]; voltage-gated sodium channel complex [GO:0001518]; Z disc [GO:0030018]; 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]; atrial cardiac muscle cell action potential [GO:0086014]; cardiac muscle cell action potential involved in contraction [GO:0086002]; cardiac muscle contraction [GO:0060048]; membrane depolarization [GO:0051899]; membrane depolarization during action potential [GO:0086010]; membrane depolarization during cardiac muscle cell action potential [GO:0086012]; nervous system development [GO:0007399]; positive regulation of heart rate [GO:0010460]; positive regulation of sodium ion transport [GO:0010765]; protein localization to plasma membrane [GO:0072659]; 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 depolarization [GO:0060373]; SA node cell action potential [GO:0086015]; sensory perception of pain [GO:0019233]; sodium ion transmembrane transport [GO:0035725]; sodium ion transport [GO:0006814]; ventricular cardiac muscle cell action potential [GO:0086005]


uniprotID: Q6R2W3
geneSymbol: ZBED9
length: 1325
go: ENSG00000232040;
snps: rs409029 rs41270593
name:
SCAN domain-containing protein 3 (Transposon-derived Buster4 transposase-like protein) (Zinc finger BED domain-containing protein 9)

sequence:

opentargets:
DNA-binding transcription factor activity [GO:0003700]; nucleic acid binding [GO:0003676]; DNA integration [GO:0015074]


uniprotID: P51170
geneSymbol: SCNN1G
reactome: R-HSA-2672351;
length: 649
go: ENSG00000166828;
drug: DB00594;DB00384;
snps: rs5733 rs1183385193 rs5736 rs5738
name:
Amiloride-sensitive sodium channel subunit gamma (Epithelial Na(+) channel subunit gamma) (ENaCG) (Gamma-ENaC) (Gamma-NaCH) (Nonvoltage-gated sodium channel 1 subunit gamma) (SCNEG)

sequence:

opentargets:
apical plasma membrane [GO:0016324]; external side of plasma membrane [GO:0009897]; extracellular exosome [GO:0070062]; integral component of plasma membrane [GO:0005887]; nucleoplasm [GO:0005654]; plasma membrane [GO:0005886]; sodium channel complex [GO:0034706]; ion channel activity [GO:0005216]; ligand-gated sodium channel activity [GO:0015280]; sodium channel activity [GO:0005272]; WW domain binding [GO:0050699]; excretion [GO:0007588]; multicellular organismal water homeostasis [GO:0050891]; response to stimulus [GO:0050896]; sensory perception of taste [GO:0050909]; sodium ion homeostasis [GO:0055078]; sodium ion transmembrane transport [GO:0035725]; sodium ion transport [GO:0006814]

location:
SUBCELLULAR LOCATION: Apical cell membrane {ECO:0000269|PubMed:24124190, ECO:0000303|PubMed:7490094}; Multi-pass membrane protein {ECO:0000250|UniProtKB:P37089}. Note=Apical membrane of epithelial cells. {ECO:0000303|PubMed:7490094}.


uniprotID: Q01118
geneSymbol: SCN7A
reactome: R-HSA-445095;R-HSA-5576892;
length: 1682
go: ENSG00000136546;
drug: DB00313;
snps: rs7565062 rs11888208 rs34183637 rs6738031 rs6760593 rs34799257 rs3791251 rs35344714
name:
Sodium channel protein type 7 subunit alpha (Putative voltage-gated sodium channel subunit alpha Nax) (Sodium channel protein cardiac and skeletal muscle subunit alpha) (Sodium channel protein type VII subunit alpha)

sequence:

opentargets:
axon [GO:0030424]; glial cell projection [GO:0097386]; 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]; muscle contraction [GO:0006936]; neuronal action potential [GO:0019228]; regulation of ion transmembrane transport [GO:0034765]; response to bacterium [GO:0009617]; sodium ion homeostasis [GO:0055078]; sodium ion transmembrane transport [GO:0035725]; sodium ion transport [GO:0006814]

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


uniprotID: P51168
geneSymbol: SCNN1B
reactome: R-HSA-2672351;
length: 640
go: ENSG00000168447;
drug: DB00594;DB00384;
name:
Amiloride-sensitive sodium channel subunit beta (Beta-NaCH) (Epithelial Na(+) channel subunit beta) (Beta-ENaC) (ENaCB) (Nonvoltage-gated sodium channel 1 subunit beta) (SCNEB)

sequence:

opentargets:
apical plasma membrane [GO:0016324]; cytoplasmic vesicle membrane [GO:0030659]; external side of plasma membrane [GO:0009897]; extracellular exosome [GO:0070062]; integral component of plasma membrane [GO:0005887]; plasma membrane [GO:0005886]; sodium channel complex [GO:0034706]; ligand-gated sodium channel activity [GO:0015280]; WW domain binding [GO:0050699]; excretion [GO:0007588]; multicellular organismal water homeostasis [GO:0050891]; response to stimulus [GO:0050896]; sensory perception of taste [GO:0050909]; sodium ion homeostasis [GO:0055078]; sodium ion transmembrane transport [GO:0035725]; sodium ion transport [GO:0006814]

snps:
rs137852706 rs35731153 rs137852709 rs137852712 rs72654338 rs777888930 rs61759921 rs137852711 rs201330438 rs1799980 rs137852710 rs149868979 rs61759926 rs1799979 rs140945152 rs387906402 rs137852708 rs137852705 rs137852707 rs372132399 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P51168-1; Sequence=Displayed; Name=2; IsoId=P51168-2; Sequence=VSP_007724; 

location:
SUBCELLULAR LOCATION: Apical cell membrane {ECO:0000305|PubMed:7490094}; Multi-pass membrane protein {ECO:0000250|UniProtKB:P37089}. Cytoplasmic vesicle membrane {ECO:0000250|UniProtKB:P37090}. Note=Apical membrane of epithelial cells. {ECO:0000305|PubMed:7490094}.


uniprotID: P55809
geneSymbol: OXCT1
reactome: R-HSA-77108;
pdb: 3DLX;
length: 520
go: ENSG00000083720;
drug: DB02731;DB00139;
location: SUBCELLULAR LOCATION: Mitochondrion matrix.
name:
Succinyl-CoA:3-ketoacid coenzyme A transferase 1, mitochondrial (EC 2.8.3.5) (3-oxoacid CoA-transferase 1) (Somatic-type succinyl-CoA:3-oxoacid CoA-transferase) (SCOT-s)

sequence:

opentargets:
mitochondrial matrix [GO:0005759]; mitochondrion [GO:0005739]; nucleoplasm [GO:0005654]; 3-oxoacid CoA-transferase activity [GO:0008260]; protein homodimerization activity [GO:0042803]; adipose tissue development [GO:0060612]; brain development [GO:0007420]; cellular ketone body metabolic process [GO:0046950]; heart development [GO:0007507]; ketone body catabolic process [GO:0046952]; ketone catabolic process [GO:0042182]; positive regulation of insulin secretion involved in cellular response to glucose stimulus [GO:0035774]; response to activity [GO:0014823]; response to ethanol [GO:0045471]; response to hormone [GO:0009725]; response to nutrient [GO:0007584]; response to starvation [GO:0042594]

snps:
rs75134564 rs267606930 rs201752548 rs121909302 rs121909303 rs368841359 rs121909301 rs121909300 rs1327401976 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P55809-1; Sequence=Displayed; Name=2; IsoId=P55809-2; Sequence=VSP_056310; Note=No experimental confirmation available.; 


uniprotID: Q9HCN8
geneSymbol: SDF2L1
name: Stromal cell-derived factor 2-like protein 1 (SDF2-like protein 1) (PWP1-interacting protein 8)
length: 221
go: ENSG00000128228;
location: SUBCELLULAR LOCATION: Endoplasmic reticulum lumen {ECO:0000255|PROSITE-ProRule:PRU10138}.
sequence:

opentargets:
endoplasmic reticulum chaperone complex [GO:0034663]; endoplasmic reticulum lumen [GO:0005788]; membrane [GO:0016020]; ATPase binding [GO:0051117]; chaperone binding [GO:0051087]; misfolded protein binding [GO:0051787]; ER-associated misfolded protein catabolic process [GO:0071712]; regulation of apoptotic process [GO:0042981]


uniprotID: P41252
geneSymbol: IARS
reactome: R-HSA-2408517;R-HSA-379716;
name: Isoleucine--tRNA ligase, cytoplasmic (EC 6.1.1.5) (Isoleucyl-tRNA synthetase) (IRS) (IleRS)
length: 1262
go: ENSG00000196305;
drug: DB00167;
snps: rs140666586 rs886037876 rs886037874 rs2070053 rs886037877 rs886037873 rs556155 rs201071417
sequence:

opentargets:
aminoacyl-tRNA synthetase multienzyme complex [GO:0017101]; cytoplasm [GO:0005737]; cytosol [GO:0005829]; extracellular exosome [GO:0070062]; membrane [GO:0016020]; aminoacyl-tRNA editing activity [GO:0002161]; ATP binding [GO:0005524]; GTPase binding [GO:0051020]; isoleucine-tRNA ligase activity [GO:0004822]; tRNA binding [GO:0000049]; isoleucyl-tRNA aminoacylation [GO:0006428]; osteoblast differentiation [GO:0001649]; tRNA aminoacylation for protein translation [GO:0006418]

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:27426735, ECO:0000269|PubMed:7721108}. Cytoplasm, cytosol {ECO:0000269|PubMed:19289464}.


uniprotID: Q9NRP4
geneSymbol: SDHAF3
name: Succinate dehydrogenase assembly factor 3, mitochondrial (SDH assembly factor 3) (SDHAF3)
length: 125
go: ENSG00000196636;
location: SUBCELLULAR LOCATION: Mitochondrion matrix {ECO:0000250|UniProtKB:Q04401}.
sequence:
MPGRHVSRVRALYKRVLQLHRVLPPDLKSLGDQYVKDEFRRHKTVGSDEAQRFLQEWEVYATALLQQANENRQNSTGKACFGTFLPEEKLNDFRDEQIGQLQELMQEATKPNRQFSISESMKPKF

opentargets:
mitochondrial intermembrane space [GO:0005758]; mitochondrial matrix [GO:0005759]; mitochondrial respiratory chain complex II assembly [GO:0034553]; regulation of gluconeogenesis [GO:0006111]; response to oxidative stress [GO:0006979]; succinate metabolic process [GO:0006105]


uniprotID: Q5VUM1
geneSymbol: SDHAF4
name: Succinate dehydrogenase assembly factor 4, mitochondrial (SDH assembly factor 4) (SDHAF4)
length: 108
go: ENSG00000154079;
snps: rs1048886 rs34711085
location: SUBCELLULAR LOCATION: Mitochondrion matrix {ECO:0000250|UniProtKB:P38345}.
sequence:
MTPSRLPWLLSWVSATAWRAARSPLLCHSLRKTSSSQGGKSELVKQSLKKPKLPEGRFDAPEDSHLEKEPLEKFPDDVNPVTKEKGGPRGPEPTRYGDWERKGRCIDF

opentargets:
mitochondrial matrix [GO:0005759]; mitochondrial respiratory chain complex II, succinate dehydrogenase complex (ubiquinone) [GO:0005749]; succinate dehydrogenase (ubiquinone) activity [GO:0008177]; cellular respiration [GO:0045333]; innate immune response [GO:0045087]; mitochondrial respiratory chain complex II assembly [GO:0034553]; neural retina development [GO:0003407]


uniprotID: Q58EX2
geneSymbol: SDK2
reactome: R-HSA-373756;
pdb: 1WF5;1WFN;1WFO;1WIS;
name: Protein sidekick-2
length: 2172
go: ENSG00000069188;
sequence:

opentargets:
cell junction [GO:0030054]; integral component of membrane [GO:0016021]; plasma membrane [GO:0005886]; synapse [GO:0045202]; camera-type eye photoreceptor cell differentiation [GO:0060219]; cell-cell junction organization [GO:0045216]; homophilic cell adhesion via plasma membrane adhesion molecules [GO:0007156]; retina layer formation [GO:0010842]; synapse assembly [GO:0007416]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=Q58EX2-1; Sequence=Displayed; Name=2; IsoId=Q58EX2-2; Sequence=VSP_017523, VSP_017524; Note=No experimental confirmation available.; Name=3; IsoId=Q58EX2-3; Sequence=VSP_017522; Note=No experimental confirmation available.; Name=4; IsoId=Q58EX2-4; Sequence=VSP_017525; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000250|UniProtKB:Q8AV57}; Single-pass type I membrane protein {ECO:0000250|UniProtKB:Q8AV57}. Cell junction, synapse {ECO:0000250|UniProtKB:Q6V4S5}.


uniprotID: Q99442
geneSymbol: SEC62
reactome: R-HSA-381038;
name: Translocation protein SEC62 (Translocation protein 1) (TP-1) (hTP-1)
length: 399
go: ENSG00000008952;
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 membrane [GO:0016021]; membrane [GO:0016020]; rough endoplasmic reticulum [GO:0005791]; signaling receptor activity [GO:0038023]; cotranslational protein targeting to membrane [GO:0006613]; posttranslational protein targeting to endoplasmic reticulum membrane [GO:0006620]


uniprotID: Q5TG53
geneSymbol: SERTAD4-AS1
length: 156
snps: rs624270
name:
Putative uncharacterized protein SERTAD4-AS1 (SERTAD4 antisense RNA 1) (SERTAD4 antisense gene protein 1)

sequence:
MSARPSLPPLPAKPAGSPRLRERPAPVGPGGEDAYSLLLRPQLGTRKVARAEEAGGEEGKREAEAWTRRAAASARRGGELRTEEPPPPAARLCCLGGGCGGGGGGGQKVSATASIPFSCKRALLTSTIPLSPPAKRRGIRTWGHPSYLTPSPTMRD

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q5TG53-1; Sequence=Displayed; Name=2; IsoId=Q5TG53-2; Sequence=VSP_035119; Note=No experimental confirmation available.; 


uniprotID: P46781
geneSymbol: RPS9
pdb: 4UG0;4V6X;5A2Q;5AJ0;5FLX;5LKS;5OA3;5T2C;5VYC;6EK0;6FEC;6G18;6G4S;6G4W;6G51;6G53;6G5H;6G5I;
name: 40S ribosomal protein S9 (Small ribosomal subunit protein uS4)
length: 194
go: ENSG00000170889;
reactome:
R-HSA-156827;R-HSA-156902;R-HSA-1799339;R-HSA-192823;R-HSA-2408557;R-HSA-6790901;R-HSA-6791226;R-HSA-72649;R-HSA-72689;R-HSA-72695;R-HSA-72702;R-HSA-72706;R-HSA-72764;R-HSA-9010553;R-HSA-975956;R-HSA-975957;

sequence:
MPVARSWVCRKTYVTPRRPFEKSRLDQELKLIGEYGLRNKREVWRVKFTLAKIRKAARELLTLDEKDPRRLFEGNALLRRLVRIGVLDEGKMKLDYILGLKIEDFLERRLQTQVFKLGLAKSIHHARVLIRQRHIRVRKQVVNIPSFIVRLDSQKHIDFSLRSPYGGGRPGRVKRKNAKKGQGGAGAGDDEEED

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; cytosolic small ribosomal subunit [GO:0022627]; extracellular exosome [GO:0070062]; focal adhesion [GO:0005925]; membrane [GO:0016020]; nucleolus [GO:0005730]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; ribonucleoprotein complex [GO:1990904]; ribosome [GO:0005840]; synapse [GO:0045202]; 5.8S rRNA binding [GO:1990932]; RNA binding [GO:0003723]; rRNA binding [GO:0019843]; structural constituent of ribosome [GO:0003735]; translation regulator activity [GO:0045182]; nuclear-transcribed mRNA catabolic process, nonsense-mediated decay [GO:0000184]; positive regulation of cell proliferation [GO:0008284]; positive regulation of translational fidelity [GO:0045903]; rRNA processing [GO:0006364]; SRP-dependent cotranslational protein targeting to membrane [GO:0006614]; translation [GO:0006412]; translational initiation [GO:0006413]

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:17289661}. Note=Localized in cytoplasmic mRNP granules containing untranslated mRNAs.


uniprotID: Q5TD94
geneSymbol: RSPH4A
name: Radial spoke head protein 4 homolog A (Radial spoke head-like protein 3)
length: 716
go: ENSG00000111834;
snps: rs767490154 rs13213314 rs753041231 rs6927567 rs784133 rs9488991 rs9488992
sequence:

opentargets:
axoneme [GO:0005930]; motile cilium [GO:0031514]; nucleolus [GO:0005730]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; radial spoke [GO:0001534]; axoneme assembly [GO:0035082]; cilium movement [GO:0003341]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q5TD94-1; Sequence=Displayed; Note=Gene prediction based on EST data.; Name=2; IsoId=Q5TD94-2; Sequence=VSP_030125; Note=Gene prediction based on EST data.; Name=3; IsoId=Q5TD94-3; Sequence=VSP_030126, VSP_030127; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton, cilium axoneme {ECO:0000305}. Cell projection, cilium. Note=Radial spoke. {ECO:0000305}.


uniprotID: Q5TEA6
geneSymbol: SEL1L2
name: Protein sel-1 homolog 2 (Suppressor of lin-12-like protein 2) (Sel-1L2)
length: 688
go: ENSG00000101251;
opentargets: integral component of membrane [GO:0016021]
snps: rs11697581 rs2073290
location: SUBCELLULAR LOCATION: Membrane; Single-pass type I membrane protein.
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q5TEA6-1; Sequence=Displayed; Name=2; IsoId=Q5TEA6-2; Sequence=VSP_046937; 


uniprotID: Q9UGP8
geneSymbol: SEC63
reactome: R-HSA-381038;
name: Translocation protein SEC63 homolog
length: 760
go: ENSG00000025796;
snps: rs17854547
location: SUBCELLULAR LOCATION: Endoplasmic reticulum membrane; Multi-pass membrane protein.
sequence:

opentargets:
cytosol [GO:0005829]; endoplasmic reticulum [GO:0005783]; endoplasmic reticulum membrane [GO:0005789]; integral component of endoplasmic reticulum membrane [GO:0030176]; membrane [GO:0016020]; Sec62/Sec63 complex [GO:0031207]; protein transporter activity [GO:0008565]; RNA binding [GO:0003723]; signaling receptor activity [GO:0038023]; liver development [GO:0001889]; multicellular organism aging [GO:0010259]; nitrogen compound metabolic process [GO:0006807]; posttranslational protein targeting to endoplasmic reticulum membrane [GO:0006620]; posttranslational protein targeting to membrane, translocation [GO:0031204]; protein targeting to membrane [GO:0006612]; renal system development [GO:0072001]; SRP-dependent cotranslational protein targeting to membrane [GO:0006614]


uniprotID: Q9P2J5
geneSymbol: LARS
reactome: R-HSA-2408517;R-HSA-379716;
pdb: 2WFD;
name: Leucine--tRNA ligase, cytoplasmic (EC 6.1.1.4) (Leucyl-tRNA synthetase) (LeuRS)
length: 1176
go: ENSG00000133706;
drug: DB00149;
snps: rs112954500 rs201861847 rs10988
location: SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250}.
sequence:

opentargets:
aminoacyl-tRNA synthetase multienzyme complex [GO:0017101]; cytoplasm [GO:0005737]; cytosol [GO:0005829]; endomembrane system [GO:0012505]; endoplasmic reticulum [GO:0005783]; lysosome [GO:0005764]; nuclear body [GO:0016604]; aminoacyl-tRNA editing activity [GO:0002161]; ATP binding [GO:0005524]; glutamine-tRNA ligase activity [GO:0004819]; GTPase activator activity [GO:0005096]; leucine-tRNA ligase activity [GO:0004823]; cellular response to amino acid starvation [GO:0034198]; cellular response to amino acid stimulus [GO:0071230]; cellular response to leucine [GO:0071233]; cellular response to leucine starvation [GO:1990253]; glutaminyl-tRNA aminoacylation [GO:0006425]; leucyl-tRNA aminoacylation [GO:0006429]; negative regulation of autophagy [GO:0010507]; positive regulation of GTPase activity [GO:0043547]; positive regulation of TORC1 signaling [GO:1904263]; protein targeting to lysosome [GO:0006622]; regulation of cell size [GO:0008361]; tRNA aminoacylation for protein translation [GO:0006418]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q9P2J5-1; Sequence=Displayed; Name=2; IsoId=Q9P2J5-2; Sequence=VSP_057205; Note=No experimental confirmation available.; Name=3; IsoId=Q9P2J5-3; Sequence=VSP_057204; Note=No experimental confirmation available.; 


uniprotID: P09683
geneSymbol: SCT
reactome: R-HSA-418555;R-HSA-420092;
name: Secretin
length: 121
go: ENSG00000070031;
location: SUBCELLULAR LOCATION: Secreted.
sequence:
MAPRPLLLLLLLLGGSAARPAPPRARRHSDGTFTSELSRLREGARLQRLLQGLVGKRSEQDAENSMAWTRLSAGLLCPSGSNMPILQAWMPLDGTWSPWLPPGPMVSEPAGAAAEGTLRPR

opentargets:
extracellular region [GO:0005576]; extracellular space [GO:0005615]; G protein-coupled receptor binding [GO:0001664]; hormone activity [GO:0005179]; protein N-terminus binding [GO:0047485]; signaling receptor binding [GO:0005102]; brain development [GO:0007420]; embryonic digestive tract development [GO:0048566]; G protein-coupled receptor signaling pathway [GO:0007186]; negative regulation of gastrin-induced gastric acid secretion [GO:1903640]; pancreatic juice secretion [GO:0030157]; positive regulation of cAMP-mediated signaling [GO:0043950]; positive regulation of pancreatic juice secretion [GO:0090187]; positive regulation of somatostatin secretion [GO:0090274]


uniprotID: O76038
geneSymbol: SCGN
name: Secretagogin
length: 276
go: ENSG00000079689;
snps: rs6942245
sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; dendrite [GO:0030425]; extracellular region [GO:0005576]; neuron projection [GO:0043005]; nucleus [GO:0005634]; presynapse [GO:0098793]; synapse [GO:0045202]; transport vesicle membrane [GO:0030658]; calcium ion binding [GO:0005509]; regulation of cytosolic calcium ion concentration [GO:0051480]; regulation of long-term synaptic potentiation [GO:1900271]; regulation of presynaptic cytosolic calcium ion concentration [GO:0099509]

location:
SUBCELLULAR LOCATION: Cytoplasm. Secreted {ECO:0000250}. Cytoplasmic vesicle, secretory vesicle membrane {ECO:0000250}; Peripheral membrane protein {ECO:0000250}; Cytoplasmic side {ECO:0000250}. Note=Predominantly cytoplasmic. A small proportion is associated with secretory granules and membrane fractions (By similarity). Detectable in human serum after ischemic neuronal damage. {ECO:0000250}.


uniprotID: Q8IZQ5
geneSymbol: SELENOH
name: Selenoprotein H (SelH)
length: 122
go: ENSG00000211450;
opentargets: cytoplasm [GO:0005737]; Golgi apparatus [GO:0005794]; RNA binding [GO:0003723]
sequence:
MAPRGRKRKAEAAVVAVAEKREKLANGGEGMEEATVVIEHCTSURVYGRNAAALSQALRLEAPELPVKVNPTKPRRGSFEVTLLRPDGSSAELWTGIKKGPPRKLKFPEPQEVVEELKKYLS


uniprotID: Q9Y6D0
geneSymbol: SELENOK
name: Selenoprotein K (SelK)
sequence: MVYISNGQVLDSRSQSPWRLSLITDFFWGIAEFVVLFFKTLLQQDVKKRRSYGNSSDSRYDDGRGPPGNPPRRMGRINHLRGPSPPPMAGGUGR
length: 94
go: ENSG00000113811;
snps: rs11562
opentargets:
endoplasmic reticulum [GO:0005783]; endoplasmic reticulum membrane [GO:0005789]; Golgi apparatus [GO:0005794]; integral component of membrane [GO:0016021]; plasma membrane [GO:0005886]; identical protein binding [GO:0042802]; calcium ion transport [GO:0006816]; endoplasmic reticulum calcium ion homeostasis [GO:0032469]; intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress [GO:0070059]; macrophage derived foam cell differentiation [GO:0010742]; positive regulation of chemokine secretion [GO:0090197]; positive regulation of defense response to virus by host [GO:0002230]; positive regulation of interleukin-6 secretion [GO:2000778]; positive regulation of monocyte chemotactic protein-1 production [GO:0071639]; positive regulation of T cell migration [GO:2000406]; positive regulation of T cell proliferation [GO:0042102]; positive regulation of tumor necrosis factor production [GO:0032760]; protein palmitoylation [GO:0018345]; regulation of calcium-mediated signaling [GO:0050848]; respiratory burst after phagocytosis [GO:0045728]; response to oxidative stress [GO:0006979]

location:
SUBCELLULAR LOCATION: Endoplasmic reticulum membrane {ECO:0000269|PubMed:16962588, ECO:0000269|PubMed:21220695, ECO:0000269|PubMed:22016385, ECO:0000269|PubMed:25368151}; Single-pass membrane protein {ECO:0000255}. Cell membrane {ECO:0000269|PubMed:12775843}; Single-pass membrane protein {ECO:0000255}. Note=Probably mainly localized in the ER. {ECO:0000269|PubMed:21220695}.


uniprotID: Q8WWX9
geneSymbol: SELENOM
name: Selenoprotein M (SelM)
length: 145
go: ENSG00000198832;
sequence:
MSLLLPPLALLLLLAALVAPATAATAYRPDWNRLSGLTRARVETCGGUQLNRLKEVKAFVTQDIPFYHNLVMKHLPGADPELVLLGRRYEELERIPLSEMTREEINALVQELGFYRKAAPDAQVPPEYVWAPAKPPEETSDHADL

opentargets:
endoplasmic reticulum [GO:0005783]; Golgi apparatus [GO:0005794]; perinuclear region of cytoplasm [GO:0048471]; adipose tissue development [GO:0060612]; corticosterone secretion [GO:0035934]; hormone metabolic process [GO:0042445]; multicellular organism growth [GO:0035264]; response to selenium ion [GO:0010269]

location:
SUBCELLULAR LOCATION: Cytoplasm, perinuclear region {ECO:0000269|PubMed:11839807}. Endoplasmic reticulum {ECO:0000305|PubMed:11839807}. Golgi apparatus {ECO:0000305|PubMed:11839807}. Note=Localized to perinuclear structures corresponding to Golgi and endoplasmic reticulum.


uniprotID: Q14242
geneSymbol: SELPLG
reactome: R-HSA-202733;
pdb: 1G1S;
name: P-selectin glycoprotein ligand 1 (PSGL-1) (Selectin P ligand) (CD antigen CD162)
length: 412
go: ENSG00000110876;
snps: rs2228315 rs63748999 rs8179142 rs756234416
location: SUBCELLULAR LOCATION: Membrane; Single-pass type I membrane protein.
sequence:

opentargets:
integral component of membrane [GO:0016021]; integral component of plasma membrane [GO:0005887]; membrane [GO:0016020]; plasma membrane [GO:0005886]; plasma membrane raft [GO:0044853]; uropod [GO:0001931]; signaling receptor binding [GO:0005102]; virus receptor activity [GO:0001618]; cell adhesion [GO:0007155]; cellular response to interleukin-6 [GO:0071354]; leukocyte adhesive activation [GO:0050902]; leukocyte migration [GO:0050900]; leukocyte tethering or rolling [GO:0050901]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q14242-1; Sequence=Displayed; Name=2; IsoId=Q14242-2; Sequence=VSP_044827; Note=No experimental confirmation available.; 


uniprotID: P60896
geneSymbol: SEM1
pdb: 1IYJ;1MIU;1MJE;3T5X;5GJQ;5GJR;5L4K;5LN3;5M32;5T0C;5T0G;5T0H;5T0I;5T0J;5VGZ;5VHF;5VHH;5VHI;5VHS;
sequence: MSEKKQPVDLGLLEEDDEFEEFPAEDWAGLDEDEDAHVWEDNWDDDNVEDDFSNQLRAELEKHGYKMETS
length: 70
go: ENSG00000127922;
snps: rs1802882
name:
26S proteasome complex subunit SEM1 (26S proteasome complex subunit DSS1) (Deleted in split hand/split foot protein 1) (Split hand/foot deleted protein 1) (Split hand/foot malformation type 1 protein)

opentargets:
cytosol [GO:0005829]; nucleoplasm [GO:0005654]; proteasome complex [GO:0000502]; proteasome regulatory particle, lid subcomplex [GO:0008541]; double-strand break repair via homologous recombination [GO:0000724]; mRNA export from nucleus [GO:0006406]; post-translational protein modification [GO:0043687]; proteasome assembly [GO:0043248]; protein deubiquitination [GO:0016579]

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


uniprotID: Q13591
geneSymbol: SEMA5A
reactome: R-HSA-416700;R-HSA-5083635;R-HSA-5173214;
name: Semaphorin-5A (Semaphorin-F) (Sema F)
length: 1074
go: ENSG00000112902;
snps: rs1806079 rs2290734
location: SUBCELLULAR LOCATION: Membrane; Single-pass type I membrane protein.
sequence:

opentargets:
extracellular exosome [GO:0070062]; integral component of membrane [GO:0016021]; membrane [GO:0016020]; plasma membrane [GO:0005886]; chemorepellent activity [GO:0045499]; chondroitin sulfate proteoglycan binding [GO:0035373]; heparan sulfate proteoglycan binding [GO:0043395]; semaphorin receptor binding [GO:0030215]; syndecan binding [GO:0045545]; axonal fasciculation [GO:0007413]; blood vessel endothelial cell proliferation involved in sprouting angiogenesis [GO:0002043]; cell adhesion [GO:0007155]; cell chemotaxis [GO:0060326]; cell-cell signaling [GO:0007267]; diencephalon development [GO:0021536]; negative regulation of axon extension involved in axon guidance [GO:0048843]; negative regulation of cell adhesion [GO:0007162]; negative regulation of endothelial cell apoptotic process [GO:2000352]; nervous system development [GO:0007399]; neural crest cell migration [GO:0001755]; positive chemotaxis [GO:0050918]; positive regulation of actin filament depolymerization [GO:0030836]; positive regulation of angiogenesis [GO:0045766]; positive regulation of axon extension involved in axon guidance [GO:0048842]; positive regulation of canonical Wnt signaling pathway [GO:0090263]; positive regulation of cell migration [GO:0030335]; positive regulation of endothelial cell chemotaxis [GO:2001028]; positive regulation of endothelial cell proliferation [GO:0001938]; positive regulation of protein kinase B signaling [GO:0051897]; semaphorin-plexin signaling pathway [GO:0071526]; signal clustering [GO:1990256]


uniprotID: Q9BSV6
geneSymbol: TSEN34
reactome: R-HSA-6784531;
length: 310
go: ENSG00000170892;
snps: rs113994150 rs17849378
name:
tRNA-splicing endonuclease subunit Sen34 (EC 4.6.1.16) (Leukocyte receptor cluster member 5) (tRNA-intron endonuclease Sen34) (HsSen34)

sequence:

opentargets:
nucleolus [GO:0005730]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; tRNA-intron endonuclease complex [GO:0000214]; lyase activity [GO:0016829]; nucleic acid binding [GO:0003676]; tRNA-intron endonuclease activity [GO:0000213]; mRNA processing [GO:0006397]; tRNA-type intron splice site recognition and cleavage [GO:0000379]

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:15109492}. Nucleus, nucleolus {ECO:0000269|PubMed:15109492}. Note=May be transiently localized in the nucleolus.


uniprotID: Q9NVA2
geneSymbol: SEPT11
name: Septin-11
length: 429
go: ENSG00000138758;
sequence:

opentargets:
axon [GO:0030424]; cell junction [GO:0030054]; dendritic spine [GO:0043197]; GABA-ergic synapse [GO:0098982]; glutamatergic synapse [GO:0098978]; microtubule cytoskeleton [GO:0015630]; postsynaptic specialization of symmetric synapse [GO:0099629]; septin complex [GO:0031105]; septin filament array [GO:0032160]; septin ring [GO:0005940]; stress fiber [GO:0001725]; GTP binding [GO:0005525]; GTPase activity [GO:0003924]; protein-containing complex scaffold activity [GO:0032947]; cilium assembly [GO:0060271]; mitotic cytokinesis [GO:0000281]; protein heterooligomerization [GO:0051291]; regulation of synapse organization [GO:0050807]; septin ring assembly [GO:0000921]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9NVA2-1; Sequence=Displayed; Name=2; IsoId=Q9NVA2-2; Sequence=VSP_038320; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton. Cell junction, synapse. Cell projection, dendritic spine. Cell projection, axon {ECO:0000250}. Note=Partly colocalizes with stress fibers and microtubules. During bacterial infection, displays a collar shape structure next to actin at the pole of invading bacteria.


uniprotID: Q9P0U3
geneSymbol: SENP1
reactome: R-HSA-3065679;
pdb: 2CKG;2CKH;2G4D;2IY0;2IY1;2IYC;2IYD;2XPH;2XRE;
name: Sentrin-specific protease 1 (EC 3.4.22.-) (Sentrin/SUMO-specific protease SENP1)
length: 644
go: ENSG00000079387;
snps: rs17854369 rs35130318 rs17854368
sequence:

opentargets:
cytoplasm [GO:0005737]; focal adhesion [GO:0005925]; nuclear membrane [GO:0031965]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; endopeptidase activity [GO:0004175]; SUMO-specific endopeptidase activity [GO:0070139]; SUMO-specific isopeptidase activity [GO:0070140]; activation of cysteine-type endopeptidase activity involved in apoptotic process [GO:0006919]; apoptotic signaling pathway [GO:0097190]; negative regulation of proteasomal ubiquitin-dependent protein catabolic process [GO:0032435]; positive regulation of transcription by RNA polymerase II [GO:0045944]; protein desumoylation [GO:0016926]; protein sumoylation [GO:0016925]; proteolysis [GO:0006508]; regulation of definitive erythrocyte differentiation [GO:0010724]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9P0U3-1; Sequence=Displayed; Name=2; IsoId=Q9P0U3-2; Sequence=VSP_035777; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:25406032}. Cytoplasm. Note=Shuttles between cytoplasm and nucleus.


uniprotID: Q92854
geneSymbol: SEMA4D
reactome: R-HSA-416550;R-HSA-416572;R-HSA-416700;
pdb: 1OLZ;3OL2;
name: Semaphorin-4D (A8) (BB18) (GR3) (CD antigen CD100)
length: 862
go: ENSG00000187764;
snps: rs13284404 rs11526468
sequence:

opentargets:
extracellular space [GO:0005615]; integral component of plasma membrane [GO:0005887]; plasma membrane [GO:0005886]; chemorepellent activity [GO:0045499]; identical protein binding [GO:0042802]; neuropilin binding [GO:0038191]; semaphorin receptor binding [GO:0030215]; signaling receptor activity [GO:0038023]; signaling receptor binding [GO:0005102]; transmembrane signaling receptor activity [GO:0004888]; cell adhesion [GO:0007155]; immune response [GO:0006955]; leukocyte aggregation [GO:0070486]; negative chemotaxis [GO:0050919]; negative regulation of alkaline phosphatase activity [GO:0010693]; negative regulation of apoptotic process [GO:0043066]; negative regulation of axon extension involved in axon guidance [GO:0048843]; negative regulation of cell adhesion [GO:0007162]; negative regulation of osteoblast differentiation [GO:0045668]; negative regulation of peptidyl-tyrosine phosphorylation [GO:0050732]; negative regulation of transcription by RNA polymerase II [GO:0000122]; neural crest cell migration [GO:0001755]; ossification involved in bone maturation [GO:0043931]; positive regulation of cell migration [GO:0030335]; positive regulation of collateral sprouting [GO:0048672]; positive regulation of GTPase activity [GO:0043547]; positive regulation of peptidyl-tyrosine phosphorylation [GO:0050731]; positive regulation of phosphatidylinositol 3-kinase signaling [GO:0014068]; positive regulation of protein phosphorylation [GO:0001934]; regulation of cell projection organization [GO:0031344]; regulation of cell shape [GO:0008360]; regulation of dendrite morphogenesis [GO:0048814]; semaphorin-plexin signaling pathway [GO:0071526]; semaphorin-plexin signaling pathway involved in bone trabecula morphogenesis [GO:1900220]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q92854-1; Sequence=Displayed; Name=2; IsoId=Q92854-2; Sequence=VSP_039483, VSP_039484; 

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:20877282, ECO:0000269|PubMed:8876214}; Single-pass type I membrane protein {ECO:0000269|PubMed:20877282, ECO:0000269|PubMed:8876214}.


uniprotID: O95754
geneSymbol: SEMA4F
name: Semaphorin-4F (Semaphorin-M) (Sema M) (Semaphorin-W) (Sema W)
length: 770
go: ENSG00000135622;
location: SUBCELLULAR LOCATION: Membrane; Single-pass type I membrane protein.
sequence:

opentargets:
endoplasmic reticulum [GO:0005783]; extracellular space [GO:0005615]; integral component of plasma membrane [GO:0005887]; membrane [GO:0016020]; plasma membrane [GO:0005886]; postsynaptic membrane [GO:0045211]; chemorepellent activity [GO:0045499]; neuropilin binding [GO:0038191]; semaphorin receptor binding [GO:0030215]; axon guidance [GO:0007411]; cell-cell signaling [GO:0007267]; negative chemotaxis [GO:0050919]; negative regulation of axon extension involved in axon guidance [GO:0048843]; nervous system development [GO:0007399]; neural crest cell migration [GO:0001755]; positive regulation of cell migration [GO:0030335]; retinal ganglion cell axon guidance [GO:0031290]; semaphorin-plexin signaling pathway [GO:0071526]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=Long; IsoId=O95754-1; Sequence=Displayed; Name=Short; IsoId=O95754-2; Sequence=VSP_006043; 


uniprotID: Q9BQF6
geneSymbol: SENP7
pdb: 3EAY;
length: 1050
go: ENSG00000138468;
snps: rs6809436 rs2433031
name:
Sentrin-specific protease 7 (EC 3.4.22.-) (SUMO-1-specific protease 2) (Sentrin/SUMO-specific protease SENP7)

sequence:

opentargets:
cytoplasm [GO:0005737]; intracellular [GO:0005622]; nucleus [GO:0005634]; SUMO-specific endopeptidase activity [GO:0070139]; protein desumoylation [GO:0016926]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=5;  Comment=Experimental confirmation may be lacking for some isoforms.; Name=1; IsoId=Q9BQF6-1; Sequence=Displayed; Name=2; IsoId=Q9BQF6-2; Sequence=VSP_039499; Name=3; IsoId=Q9BQF6-3; Sequence=VSP_039498, VSP_039502; Name=4; IsoId=Q9BQF6-4; Sequence=VSP_039499, VSP_039501; Name=5; IsoId=Q9BQF6-5; Sequence=VSP_039500; 


uniprotID: Q96LD8
geneSymbol: SENP8
reactome: R-HSA-5689603;R-HSA-8951664;
pdb: 1XT9;2BKQ;2BKR;
length: 212
go: ENSG00000166192;
snps: rs930871
name:
Sentrin-specific protease 8 (EC 3.4.22.-) (Deneddylase-1) (NEDD8-specific protease 1) (Protease, cysteine 2) (Sentrin/SUMO-specific protease SENP8)

sequence:

opentargets:
cytosol [GO:0005829]; NEDD8-specific protease activity [GO:0019784]; post-translational protein modification [GO:0043687]; protein deubiquitination [GO:0016579]


uniprotID: Q9P0V9
geneSymbol: SEPT10
name: Septin-10
length: 454
go: ENSG00000186522;
snps: rs3829701
sequence:

opentargets:
microtubule cytoskeleton [GO:0015630]; septin complex [GO:0031105]; septin filament array [GO:0032160]; septin ring [GO:0005940]; GTP binding [GO:0005525]; GTPase activity [GO:0003924]; protein-containing complex scaffold activity [GO:0032947]; cilium assembly [GO:0060271]; mitotic cytokinesis [GO:0000281]; septin ring assembly [GO:0000921]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q9P0V9-1; Sequence=Displayed; Name=2; IsoId=Q9P0V9-2; Sequence=VSP_014091; Name=3; IsoId=Q9P0V9-3; Sequence=VSP_041479; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:12711328}. Cytoplasm, cytoskeleton {ECO:0000250}. Note=Using a GFP-fusion protein, detected in the nucleus. {ECO:0000269|PubMed:12711328}.


uniprotID: Q14141
geneSymbol: SEPT6
pdb: 2QAG;
name: Septin-6
length: 434
go: ENSG00000125354;
sequence:

opentargets:
axon terminus [GO:0043679]; cleavage furrow [GO:0032154]; condensed chromosome kinetochore [GO:0000777]; microtubule cytoskeleton [GO:0015630]; midbody [GO:0030496]; septin collar [GO:0032173]; septin complex [GO:0031105]; septin filament array [GO:0032160]; septin ring [GO:0005940]; sperm annulus [GO:0097227]; spindle [GO:0005819]; synaptic vesicle [GO:0008021]; GTP binding [GO:0005525]; GTPase activity [GO:0003924]; protein-containing complex scaffold activity [GO:0032947]; cell differentiation [GO:0030154]; cilium assembly [GO:0060271]; mitotic cytokinesis [GO:0000281]; septin ring assembly [GO:0000921]; spermatogenesis [GO:0007283]; viral process [GO:0016032]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=II; IsoId=Q14141-1; Sequence=Displayed; Name=I; Synonyms=III; IsoId=Q14141-2; Sequence=VSP_006053; Name=IV; IsoId=Q14141-3; Sequence=VSP_006051, VSP_006052; Name=V; IsoId=Q14141-4; Sequence=VSP_006054; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:15774761}. Cytoplasm, cytoskeleton, spindle {ECO:0000269|PubMed:15774761}. Chromosome, centromere, kinetochore {ECO:0000269|PubMed:15774761}. Cleavage furrow {ECO:0000269|PubMed:15774761}. Midbody {ECO:0000269|PubMed:15774761}. Cell projection, cilium, flagellum {ECO:0000269|PubMed:25588830}. Note=In metaphase cells, localized within the microtubule spindle. At the metaphase plate, in close apposition to the kinetochores of the congressed chromosomes. In cells undergoing cytokinesis, localized to the midbody, the ingressing cleavage furrow, and the central spindle. Found in the sperm annulus (PubMed:25588830). {ECO:0000269|PubMed:25588830}.


uniprotID: Q12884
geneSymbol: FAP
pdb: 1Z68;
length: 760
go: ENSG00000078098;
snps: rs762738740
name:
Prolyl endopeptidase FAP (EC 3.4.21.26) (170 kDa melanoma membrane-bound gelatinase) (Dipeptidyl peptidase FAP) (EC 3.4.14.5) (Fibroblast activation protein alpha) (FAPalpha) (Gelatine degradation protease FAP) (EC 3.4.21.-) (Integral membrane serine protease) (Post-proline cleaving enzyme) (Serine integral membrane protease) (SIMP) (Surface-expressed protease) (Seprase) [Cleaved into: Antiplasmin-cleaving enzyme FAP, soluble form (APCE) (EC 3.4.14.5) (EC 3.4.21.-) (EC 3.4.21.26)]

sequence:

opentargets:
apical part of cell [GO:0045177]; basal part of cell [GO:0045178]; cell surface [GO:0009986]; cytoplasm [GO:0005737]; extracellular space [GO:0005615]; focal adhesion [GO:0005925]; integral component of membrane [GO:0016021]; invadopodium membrane [GO:0071438]; lamellipodium [GO:0030027]; lamellipodium membrane [GO:0031258]; plasma membrane [GO:0005886]; ruffle membrane [GO:0032587]; dipeptidyl-peptidase activity [GO:0008239]; endopeptidase activity [GO:0004175]; integrin binding [GO:0005178]; metalloendopeptidase activity [GO:0004222]; peptidase activity [GO:0008233]; protease binding [GO:0002020]; protein dimerization activity [GO:0046983]; protein homodimerization activity [GO:0042803]; serine-type endopeptidase activity [GO:0004252]; serine-type peptidase activity [GO:0008236]; angiogenesis [GO:0001525]; cell adhesion [GO:0007155]; endothelial cell migration [GO:0043542]; melanocyte apoptotic process [GO:1902362]; melanocyte proliferation [GO:0097325]; mitotic cell cycle arrest [GO:0071850]; negative regulation of cell proliferation involved in contact inhibition [GO:0060244]; negative regulation of extracellular matrix disassembly [GO:0010716]; negative regulation of extracellular matrix organization [GO:1903054]; positive regulation of cell cycle arrest [GO:0071158]; positive regulation of execution phase of apoptosis [GO:1900119]; proteolysis [GO:0006508]; proteolysis involved in cellular protein catabolic process [GO:0051603]; regulation of collagen catabolic process [GO:0010710]; regulation of fibrinolysis [GO:0051917]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; Synonyms=L, seprase-I {ECO:0000303|PubMed:10644713}; IsoId=Q12884-1; Sequence=Displayed; Note=Major isoform.; Name=2 {ECO:0000269|PubMed:10644713}; Synonyms=S, Truncated, seprase-s {ECO:0000303|PubMed:10644713}; IsoId=Q12884-2; Sequence=VSP_005367; Note=Upstream open reading frames ORF(s)-containing region inhibits the translation of its downstream ORF. {ECO:0000269|PubMed:10644713}; 

location:
SUBCELLULAR LOCATION: Prolyl endopeptidase FAP: Cell surface {ECO:0000269|PubMed:10593948, ECO:0000269|PubMed:16175601, ECO:0000269|PubMed:17105646, ECO:0000269|PubMed:24717288, ECO:0000269|PubMed:7911242}. Cell membrane {ECO:0000269|PubMed:12376466, ECO:0000269|PubMed:16651416, ECO:0000269|PubMed:9065413, ECO:0000303|PubMed:10455171}; Single-pass type II membrane protein {ECO:0000255}. Cell projection, lamellipodium membrane {ECO:0000269|PubMed:16651416, ECO:0000269|PubMed:9065413}; Single-pass type II membrane protein {ECO:0000255}. Cell projection, invadopodium membrane {ECO:0000269|PubMed:12376466, ECO:0000269|PubMed:16651416, ECO:0000269|PubMed:7923219, ECO:0000269|PubMed:9065413, ECO:0000303|PubMed:10455171}; Single-pass type II membrane protein {ECO:0000255}. Cell projection, ruffle membrane {ECO:0000303|PubMed:10455171}; Single-pass type II membrane protein {ECO:0000255}. Membrane {ECO:0000269|PubMed:2172980}; Single-pass type II membrane protein {ECO:0000255}. Note=Localized on cell surface with lamellipodia and invadopodia membranes and on shed vesicles. Colocalized with DPP4 at invadopodia and lamellipodia membranes of migratory activated endothelial cells in collagenous matrix. Colocalized with DPP4 on endothelial cells of capillary-like microvessels but not large vessels within invasive breast ductal carcinoma. Anchored and enriched preferentially by integrin alpha-3/beta-1 at invadopodia, plasma membrane protrusions that correspond to sites of cell invasion, in a collagen-dependent manner. Localized at plasma and ruffle membranes in a collagen-independent manner. Colocalized with PLAUR preferentially at the cell surface of invadopodia membranes in a cytoskeleton-, integrin- and vitronectin-dependent manner. Concentrated at invadopodia membranes, specialized protrusions of the ventral plasma membrane in a fibrobectin-dependent manner. Colocalizes with extracellular components (ECM), such as collagen fibers and fibronectin. {ECO:0000269|PubMed:10593948, ECO:0000269|PubMed:12376466, ECO:0000269|PubMed:16175601, ECO:0000269|PubMed:16651416, ECO:0000269|PubMed:17105646, ECO:0000269|PubMed:2172980, ECO:0000269|PubMed:24717288, ECO:0000269|PubMed:7911242, ECO:0000269|PubMed:7923219, ECO:0000269|PubMed:9065413, ECO:0000303|PubMed:10455171}.; SUBCELLULAR LOCATION: Antiplasmin-cleaving enzyme FAP, soluble form: Secreted {ECO:0000269|PubMed:14751930, ECO:0000269|PubMed:16223769, ECO:0000269|PubMed:24371721}. Note=Found in blood plasma and serum. {ECO:0000269|PubMed:14751930, ECO:0000269|PubMed:16223769, ECO:0000269|PubMed:24371721}.; SUBCELLULAR LOCATION: Isoform 2: Cytoplasm {ECO:0000303|PubMed:10644713}.


uniprotID: Q15019
geneSymbol: SEPT2
reactome: R-HSA-5620912;
pdb: 2QA5;2QAG;2QNR;
name: Septin-2 (Neural precursor cell expressed developmentally down-regulated protein 5) (NEDD-5)
length: 361
go: ENSG00000168385;
sequence:

opentargets:
axoneme [GO:0005930]; ciliary membrane [GO:0060170]; cleavage furrow [GO:0032154]; condensed chromosome kinetochore [GO:0000777]; cytoplasm [GO:0005737]; exocyst [GO:0000145]; extracellular exosome [GO:0070062]; microtubule cytoskeleton [GO:0015630]; midbody [GO:0030496]; non-motile cilium [GO:0097730]; nucleus [GO:0005634]; perinuclear region of cytoplasm [GO:0048471]; photoreceptor connecting cilium [GO:0032391]; septin complex [GO:0031105]; septin filament array [GO:0032160]; septin ring [GO:0005940]; sperm annulus [GO:0097227]; spindle [GO:0005819]; cadherin binding [GO:0045296]; GTP binding [GO:0005525]; GTPase activity [GO:0003924]; identical protein binding [GO:0042802]; protein-containing complex scaffold activity [GO:0032947]; cilium assembly [GO:0060271]; mitotic cytokinesis [GO:0000281]; neuron projection development [GO:0031175]; septin ring assembly [GO:0000921]; smoothened signaling pathway [GO:0007224]; spermatogenesis [GO:0007283]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q15019-1; Sequence=Displayed; Name=2; IsoId=Q15019-2; Sequence=VSP_038271; Note=No experimental confirmation available.; Name=3; IsoId=Q15019-3; Sequence=VSP_055176; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:15774761}. Cytoplasm, cytoskeleton {ECO:0000269|PubMed:15774761}. Cytoplasm, cytoskeleton, spindle {ECO:0000269|PubMed:15774761}. Chromosome, centromere, kinetochore {ECO:0000269|PubMed:15774761}. Cleavage furrow {ECO:0000269|PubMed:15774761}. Midbody {ECO:0000269|PubMed:15774761}. Cytoplasm, cell cortex {ECO:0000269|PubMed:15774761}. Cell projection, cilium membrane {ECO:0000250}. Cell projection, cilium, flagellum {ECO:0000269|PubMed:25588830}. Note=In metaphase cells, localized within the microtubule spindle. At the metaphase plate, in close apposition to the kinetochores of the congressed chromosomes. In cells undergoing cytokinesis, localized to the midbody, the ingressing cleavage furrow, and the central spindle. During bacterial infection, displays a collar shape structure next to actin at the pole of invading bacteria. In epithelial cells, colocalizes with polyglutamylated tubulin around the trans-Golgi network, as well as juxatnuclear and proximal Golgi apparatus. Localizes at the base of the cilia near the morphological distinction between the cilia and plasma membranes. Found in the sperm annulus (PubMed:25588830). {ECO:0000269|PubMed:25588830}.


uniprotID: O43175
geneSymbol: PHGDH
reactome: R-HSA-977347;
pdb: 2G76;5N53;5N6C;5NZO;5NZP;5NZQ;5OFM;5OFV;5OFW;
length: 533
go: ENSG00000092621;
drug: DB00157;
snps: rs267606949 rs587777770 rs587777483 rs267606947 rs267606948 rs121907988 rs121907987
name:
D-3-phosphoglycerate dehydrogenase (3-PGDH) (EC 1.1.1.95) (2-oxoglutarate reductase) (EC 1.1.1.399) (Malate dehydrogenase) (EC 1.1.1.37)

sequence:

opentargets:
cytosol [GO:0005829]; extracellular exosome [GO:0070062]; myelin sheath [GO:0043209]; electron transfer activity [GO:0009055]; L-malate dehydrogenase activity [GO:0030060]; NAD binding [GO:0051287]; phosphoglycerate dehydrogenase activity [GO:0004617]; brain development [GO:0007420]; G1 to G0 transition [GO:0070314]; gamma-aminobutyric acid metabolic process [GO:0009448]; glial cell development [GO:0021782]; glutamine metabolic process [GO:0006541]; glycine metabolic process [GO:0006544]; L-serine biosynthetic process [GO:0006564]; neural tube development [GO:0021915]; neuron projection development [GO:0031175]; regulation of gene expression [GO:0010468]; spinal cord development [GO:0021510]; taurine metabolic process [GO:0019530]; threonine metabolic process [GO:0006566]


uniprotID: P78330
geneSymbol: PSPH
reactome: R-HSA-977347;
pdb: 1L8L;1L8O;1NNL;
length: 225
go: ENSG00000146733;
drug: DB03292;
snps: rs104894035 rs104894036
name:
Phosphoserine phosphatase (PSP) (PSPase) (EC 3.1.3.3) (L-3-phosphoserine phosphatase) (O-phosphoserine phosphohydrolase)

sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; neuron projection [GO:0043005]; calcium ion binding [GO:0005509]; magnesium ion binding [GO:0000287]; phosphatase activity [GO:0016791]; phosphoserine phosphatase activity [GO:0004647]; protein homodimerization activity [GO:0042803]; dephosphorylation [GO:0016311]; L-serine biosynthetic process [GO:0006564]; L-serine metabolic process [GO:0006563]; response to mechanical stimulus [GO:0009612]; response to nutrient levels [GO:0031667]; response to testosterone [GO:0033574]


uniprotID: Q9NRX5
geneSymbol: SERINC1
reactome: R-HSA-977347;
length: 453
go: ENSG00000111897;
snps: rs13210569 rs13210446 rs17260829
name:
Serine incorporator 1 (Tumor differentially expressed protein 1-like) (Tumor differentially expressed protein 2)

sequence:

opentargets:
endoplasmic reticulum membrane [GO:0005789]; integral component of membrane [GO:0016021]; plasma membrane [GO:0005886]; enzyme binding [GO:0019899]; protein binding, bridging [GO:0030674]; membrane biogenesis [GO:0044091]; phosphatidylserine metabolic process [GO:0006658]; phospholipid biosynthetic process [GO:0008654]; positive regulation of CDP-diacylglycerol-serine O-phosphatidyltransferase activity [GO:1904219]; positive regulation of serine C-palmitoyltransferase activity [GO:1904222]; sphingolipid metabolic process [GO:0006665]

location:
SUBCELLULAR LOCATION: Endoplasmic reticulum membrane {ECO:0000250|UniProtKB:Q7TNK0}; Multi-pass membrane protein {ECO:0000250|UniProtKB:Q7TNK0}.


uniprotID: Q13530
geneSymbol: SERINC3
reactome: R-HSA-977347;
name: Serine incorporator 3 (Tumor differentially expressed protein 1)
length: 473
go: ENSG00000132824;
sequence:

opentargets:
Golgi membrane [GO:0000139]; integral component of membrane [GO:0016021]; perinuclear region of cytoplasm [GO:0048471]; plasma membrane [GO:0005886]; L-serine transmembrane transporter activity [GO:0015194]; defense response to virus [GO:0051607]; detection of virus [GO:0009597]; innate immune response [GO:0045087]; L-serine biosynthetic process [GO:0006564]; phosphatidylserine metabolic process [GO:0006658]; positive regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway [GO:1902237]; sphingolipid metabolic process [GO:0006665]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q13530-1; Sequence=Displayed; Name=2; IsoId=Q13530-2; Sequence=VSP_056833; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000250|UniProtKB:Q86VE9}; Multi-pass membrane protein {ECO:0000255}. Golgi apparatus membrane {ECO:0000250|UniProtKB:Q9QZI9}; Multi-pass membrane protein {ECO:0000250|UniProtKB:Q9QZI9}.; SUBCELLULAR LOCATION: Cytoplasm, perinuclear region {ECO:0000305|PubMed:26416734}. Note=(Microbial infection) Upon HIV-1 infection, it is redirected to perinuclear region following interaction with HIV-1 Nef, excluding it from virions particles, thereby preventing subsequent antiviral defense activity (Probable). {ECO:0000305|PubMed:26416734}.


uniprotID: A6NH21
geneSymbol: SERINC4
reactome: R-HSA-977347;
name: Serine incorporator 4
length: 518
opentargets: integral component of membrane [GO:0016021]; phospholipid biosynthetic process [GO:0008654]
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Multi-pass membrane protein {ECO:0000305}.
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=A6NH21-1; Sequence=Displayed; Name=2; IsoId=A6NH21-2; Sequence=VSP_033584, VSP_033585; 


uniprotID: Q86VE9
geneSymbol: SERINC5
reactome: R-HSA-977347;
name: Serine incorporator 5
length: 423
go: ENSG00000164300;
sequence:

opentargets:
extracellular exosome [GO:0070062]; Golgi apparatus [GO:0005794]; integral component of membrane [GO:0016021]; myelin sheath [GO:0043209]; perinuclear region of cytoplasm [GO:0048471]; plasma membrane [GO:0005886]; L-serine transmembrane transporter activity [GO:0015194]; defense response to virus [GO:0051607]; detection of virus [GO:0009597]; innate immune response [GO:0045087]; L-serine biosynthetic process [GO:0006564]; myelination [GO:0042552]; phosphatidylserine metabolic process [GO:0006658]; phospholipid biosynthetic process [GO:0008654]; positive regulation of CDP-diacylglycerol-serine O-phosphatidyltransferase activity [GO:1904219]; positive regulation of serine C-palmitoyltransferase activity [GO:1904222]; sphingolipid metabolic process [GO:0006665]; viral process [GO:0016032]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=Q86VE9-1; Sequence=Displayed; Name=2; IsoId=Q86VE9-2; Sequence=VSP_033055; Name=3; IsoId=Q86VE9-3; Sequence=VSP_033054; Name=4; IsoId=Q86VE9-4; Sequence=VSP_042310; 

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:26416733, ECO:0000269|PubMed:26416734}; Multi-pass membrane protein {ECO:0000255}.; SUBCELLULAR LOCATION: Cytoplasm, perinuclear region {ECO:0000269|PubMed:26416734, ECO:0000305|PubMed:26416733}. Note=(Microbial infection) Upon HIV-1 infection, it is redirected to perinuclear region following interaction with HIV-1 Nef, excluding it from virions particles, thereby preventing subsequent antiviral defense activity (PubMed:26416733, PubMed:26416734). Localizes to the cell membrane, where it is efficiently incorporated into budding virions and impairs subsequent virion entry into target cells (PubMed:26416733, PubMed:26416734). {ECO:0000269|PubMed:26416734, ECO:0000305|PubMed:26416733}.


uniprotID: Q99719
geneSymbol: SEPT5
name: Septin-5 (Cell division control-related protein 1) (CDCrel-1) (Peanut-like protein 1)
length: 369
go: ENSG00000184702;
sequence:

opentargets:
microtubule cytoskeleton [GO:0015630]; plasma membrane [GO:0005886]; septin complex [GO:0031105]; septin filament array [GO:0032160]; septin ring [GO:0005940]; synaptic vesicle [GO:0008021]; GTP binding [GO:0005525]; GTPase activity [GO:0003924]; protein-containing complex scaffold activity [GO:0032947]; structural molecule activity [GO:0005198]; cilium assembly [GO:0060271]; mitotic cytokinesis [GO:0000281]; regulation of exocytosis [GO:0017157]; regulation of synaptic vesicle exocytosis [GO:2000300]; septin ring assembly [GO:0000921]; synaptic vesicle targeting [GO:0016080]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q99719-1; Sequence=Displayed; Name=2; IsoId=Q99719-2; Sequence=VSP_042689, VSP_042690; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250}. Cytoplasm, cytoskeleton {ECO:0000250}. Note=In platelets, found in areas surrounding alpha-granules.


uniprotID: P84101
geneSymbol: SERF2
sequence: MTRGNQRELARQKNMKKQSDSVKGKRRDDGLSAAARKQRDSEIMQQKQKKANEKKEEPK
length: 59
opentargets: cytosol [GO:0005829]; nucleus [GO:0005634]
snps: rs11269
name:
Small EDRK-rich factor 2 (Gastric cancer-related protein VRG107) (Protein 4F5-related) (4F5rel) (h4F5rel)

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=P84101-1; Sequence=Displayed; Name=2; IsoId=P84101-2; Sequence=VSP_046732; Note=Gene prediction based on EST data.; Name=3; IsoId=P84101-3; Sequence=VSP_046731; Note=Gene prediction based on EST data.; Name=4; IsoId=P84101-4; Sequence=VSP_046730; Note=Gene prediction based on EST data.; 


uniprotID: Q9NQF3
geneSymbol: SERHL
name: Serine hydrolase-like protein (SHL) (EC 3.1.-.-)
length: 203
opentargets: hydrolase activity [GO:0016787]
snps: rs3213549
sequence:


uniprotID: Q6ICB4
geneSymbol: PHETA2
length: 259
go: ENSG00000177096;
snps: rs1807493
name:
Sesquipedalian-2 (Ses2) (27 kDa inositol polyphosphate phosphatase interacting protein B) (IPIP27B) (PH domain-containing endocytic trafficking adaptor 2)

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]

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=Also found on macropinosomes. Not detected in late endosomes, nor in lysosomes. {ECO:0000269|PubMed:20133602, ECO:0000269|PubMed:21233288}.


uniprotID: Q9Y6X0
geneSymbol: SETBP1
name: SET-binding protein (SEB)
length: 1596
go: ENSG00000152217;
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:11231286}.
sequence:

opentargets:
cytosol [GO:0005829]; nuclear body [GO:0016604]; nucleus [GO:0005634]; DNA binding [GO:0003677]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]

snps:
rs11082414 rs1178702025 rs267607041 rs267607042 rs267607039 rs267607040 rs267607038 rs559186877 rs3744825 rs1064204 rs778181199 rs149638556 rs77518617 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9Y6X0-1; Sequence=Displayed; Name=2; IsoId=Q9Y6X0-2; Sequence=VSP_039060, VSP_039061; Note=No experimental confirmation available.; 


uniprotID: Q86TU7
geneSymbol: SETD3
reactome: R-HSA-3214841;
pdb: 3SMT;
name: Histone-lysine N-methyltransferase setd3 (EC 2.1.1.43) (SET domain-containing protein 3)
length: 594
go: ENSG00000183576;
snps: rs1740231
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000250|UniProtKB:Q91WC0}.
sequence:

opentargets:
nuclear chromatin [GO:0000790]; nucleoplasm [GO:0005654]; histone methyltransferase activity (H3-K36 specific) [GO:0046975]; histone methyltransferase activity (H3-K4 specific) [GO:0042800]; histone-lysine N-methyltransferase activity [GO:0018024]; protein-lysine N-methyltransferase activity [GO:0016279]; RNA polymerase II activating transcription factor binding [GO:0001102]; transcription coactivator activity [GO:0003713]; histone H3-K36 methylation [GO:0010452]; peptidyl-lysine dimethylation [GO:0018027]; peptidyl-lysine monomethylation [GO:0018026]; peptidyl-lysine trimethylation [GO:0018023]; positive regulation of muscle cell differentiation [GO:0051149]; positive regulation of transcription by RNA polymerase II [GO:0045944]; positive regulation of transcription, DNA-templated [GO:0045893]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q86TU7-1; Sequence=Displayed; Name=2; IsoId=Q86TU7-2; Sequence=VSP_021190, VSP_021193; Name=3; IsoId=Q86TU7-3; Sequence=VSP_021191, VSP_021192; 


uniprotID: Q9NVD3
geneSymbol: SETD4
name: SET domain-containing protein 4 (EC 2.1.1.-)
length: 440
go: ENSG00000185917;
snps: rs2835239
sequence:

opentargets:
protein-lysine N-methyltransferase activity [GO:0016279]; peptidyl-lysine monomethylation [GO:0018026]; peptidyl-lysine trimethylation [GO:0018023]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=A; IsoId=Q9NVD3-1; Sequence=Displayed; Name=B; IsoId=Q9NVD3-2; Sequence=VSP_004146; 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.; Name=3; IsoId=Q9NVD3-3; Sequence=VSP_026578; Note=No experimental confirmation available.; Name=4; IsoId=Q9NVD3-4; Sequence=VSP_054087, VSP_054088; 


uniprotID: P17600
geneSymbol: SYN1
reactome: R-HSA-181429;R-HSA-212676;
name: Synapsin-1 (Brain protein 4.1) (Synapsin I)
length: 705
go: ENSG00000008056;
drug: DB01660;
location: SUBCELLULAR LOCATION: Cell junction, synapse. Golgi apparatus {ECO:0000250}.
sequence:

opentargets:
anchored component of synaptic vesicle membrane [GO:0098993]; axon [GO:0030424]; cell junction [GO:0030054]; cytoskeleton [GO:0005856]; cytosol [GO:0005829]; dendrite [GO:0030425]; extrinsic component of synaptic vesicle membrane [GO:0098850]; Golgi apparatus [GO:0005794]; myelin sheath [GO:0043209]; postsynaptic density [GO:0014069]; presynaptic active zone [GO:0048786]; Schaffer collateral - CA1 synapse [GO:0098685]; synaptic vesicle [GO:0008021]; synaptic vesicle membrane [GO:0030672]; synaptonemal complex [GO:0000795]; actin binding [GO:0003779]; ATP binding [GO:0005524]; calcium-dependent protein binding [GO:0048306]; protein kinase binding [GO:0019901]; transporter activity [GO:0005215]; chemical synaptic transmission [GO:0007268]; neuron development [GO:0048666]; neurotransmitter secretion [GO:0007269]; regulation of neurotransmitter secretion [GO:0046928]; regulation of synaptic vesicle exocytosis [GO:2000300]; synapse organization [GO:0050808]; synaptic vesicle clustering [GO:0097091]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=IA; IsoId=P17600-1; Sequence=Displayed; Name=IB; IsoId=P17600-2; Sequence=VSP_006316, VSP_006317; 


uniprotID: Q53EL9
geneSymbol: SEZ6
name: Seizure protein 6 homolog (SEZ-6) (hSEZ-6)
length: 994
go: ENSG00000063015;
snps: rs1428430471 rs754657367 rs1976165 rs12941884
sequence:

opentargets:
apical dendrite [GO:0097440]; dendritic shaft [GO:0043198]; dendritic spine [GO:0043197]; endoplasmic reticulum [GO:0005783]; integral component of membrane [GO:0016021]; neuronal cell body [GO:0043025]; perinuclear region of cytoplasm [GO:0048471]; plasma membrane [GO:0005886]; adult locomotory behavior [GO:0008344]; cerebellar Purkinje cell layer development [GO:0021680]; excitatory postsynaptic potential [GO:0060079]; regulation of dendrite development [GO:0050773]; regulation of protein kinase C signaling [GO:0090036]; synapse maturation [GO:0060074]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=Q53EL9-1; Sequence=Displayed; Name=2; IsoId=Q53EL9-2; Sequence=VSP_034250; Note=No experimental confirmation available.; Name=3; IsoId=Q53EL9-3; Sequence=VSP_034253; Note=No experimental confirmation available.; Name=4; Synonyms=SEZ6b; IsoId=Q53EL9-4; Sequence=VSP_034251, VSP_034252; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000250}; Single-pass type I membrane protein {ECO:0000250}. Note=Localized on dendrites and in the synaptic and postsynaptic fraction. {ECO:0000250}.


uniprotID: O15061
geneSymbol: SYNM
name: Synemin (Desmuslin)
length: 1565
snps: rs3743242 rs3134595 rs9920074 rs7167599 rs2292288 rs2292287
sequence:

opentargets:
adherens junction [GO:0005912]; costamere [GO:0043034]; intermediate filament [GO:0005882]; neurofilament cytoskeleton [GO:0060053]; sarcolemma [GO:0042383]; intermediate filament binding [GO:0019215]; structural constituent of cytoskeleton [GO:0005200]; structural constituent of muscle [GO:0008307]; vinculin binding [GO:0017166]; fast-twitch skeletal muscle fiber contraction [GO:0031443]; intermediate filament cytoskeleton organization [GO:0045104]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; Synonyms=Alpha; IsoId=O15061-1; Sequence=Displayed; Name=2; Synonyms=Beta; IsoId=O15061-2; Sequence=VSP_002465; Name=3; IsoId=O15061-3; Sequence=VSP_036478, VSP_036479; 

location:
SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton. Cell junction, adherens junction. Note=There are at least two distinct SYNM subpopulations, one in which SYMN interacts with DES within the Z-lines, and another in which it interacts with both DTNA and DES at the costamere.


uniprotID: Q13435
geneSymbol: SF3B2
reactome: R-HSA-72163;R-HSA-72165;
pdb: 2DO5;5Z56;5Z57;5Z58;6FF4;
length: 895
go: ENSG00000087365;
name:
Splicing factor 3B subunit 2 (Pre-mRNA-splicing factor SF3b 145 kDa subunit) (SF3b145) (Spliceosome-associated protein 145) (SAP 145)

sequence:

opentargets:
catalytic step 2 spliceosome [GO:0071013]; nuclear speck [GO:0016607]; nucleoplasm [GO:0005654]; spliceosomal complex [GO:0005681]; U12-type spliceosomal complex [GO:0005689]; U2 snRNP [GO:0005686]; RNA binding [GO:0003723]; mRNA processing [GO:0006397]; mRNA splicing, via spliceosome [GO:0000398]; RNA splicing [GO:0008380]; viral process [GO:0016032]

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:27720643, ECO:0000269|PubMed:28541300}. Nucleus speckle {ECO:0000269|PubMed:16923959}.


uniprotID: O43426
geneSymbol: SYNJ1
reactome: R-HSA-1660499;R-HSA-1855183;R-HSA-1855204;R-HSA-8856828;
pdb: 1W80;2DNR;2VJ0;
name: Synaptojanin-1 (EC 3.1.3.36) (Synaptic inositol 1,4,5-trisphosphate 5-phosphatase 1)
length: 1573
go: ENSG00000159082;
snps: rs2254562 rs9980589 rs2230767
location: SUBCELLULAR LOCATION: Cytoplasm, perinuclear region {ECO:0000250|UniProtKB:O18964}.
sequence:

opentargets:
clathrin coat of coated pit [GO:0030132]; cytosol [GO:0005829]; membrane coat [GO:0030117]; neuron projection [GO:0043005]; perinuclear region of cytoplasm [GO:0048471]; postsynapse [GO:0098794]; presynapse [GO:0098793]; synaptic membrane [GO:0097060]; terminal bouton [GO:0043195]; vesicle membrane [GO:0012506]; inositol-1,3,4,5-tetrakisphosphate 5-phosphatase activity [GO:0052659]; inositol-1,4,5-trisphosphate 5-phosphatase activity [GO:0052658]; phosphatidylinositol phosphate 4-phosphatase activity [GO:0034596]; phosphatidylinositol phosphate 5-phosphatase activity [GO:0034595]; 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]; inositol phosphate metabolic process [GO:0043647]; learning [GO:0007612]; membrane organization [GO:0061024]; neurotransmitter transport [GO:0006836]; phosphatidylinositol biosynthetic process [GO:0006661]; phosphatidylinositol dephosphorylation [GO:0046856]; phosphatidylinositol metabolic process [GO:0046488]; positive regulation of endosome organization [GO:1904980]; positive regulation of gliogenesis [GO:0014015]; positive regulation of receptor-mediated endocytosis [GO:0048260]; postsynaptic neurotransmitter receptor internalization [GO:0098884]; response to cytokine [GO:0034097]; response to retinoic acid [GO:0032526]; synaptic vesicle endocytosis [GO:0048488]; synaptic vesicle priming [GO:0016082]; synaptic vesicle transport [GO:0048489]; synaptic vesicle uncoating [GO:0016191]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; Synonyms=Synaptojanin-170; IsoId=O43426-1; Sequence=Displayed; Name=2; Synonyms=Synaptojanin-145; IsoId=O43426-2; Sequence=VSP_002682, VSP_002683; Name=3; IsoId=O43426-4; Sequence=VSP_041578, VSP_002682, VSP_002683; Name=4; IsoId=O43426-5; Sequence=VSP_035709, VSP_035710, VSP_035711; 


uniprotID: A8K8P3
geneSymbol: SFI1
reactome: R-HSA-2565942;R-HSA-380259;R-HSA-380270;R-HSA-380284;R-HSA-380320;R-HSA-5620912;R-HSA-8854518;
pdb: 2K2I;
name: Protein SFI1 homolog (hSFI1)
length: 1242
go: ENSG00000198089;
snps: rs5749290 rs16989698 rs7511430 rs5753700 rs16989291 rs2006771 rs9621295 rs12171042
sequence:

opentargets:
centriole [GO:0005814]; centrosome [GO:0005813]; cytosol [GO:0005829]; phosphatase binding [GO:0019902]; ciliary basal body-plasma membrane docking [GO:0097711]; G2/M transition of mitotic cell cycle [GO:0000086]; negative regulation of phosphatase activity [GO:0010923]; regulation of G2/M transition of mitotic cell cycle [GO:0010389]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=7;  Name=1; IsoId=A8K8P3-1; Sequence=Displayed; Name=2; IsoId=A8K8P3-2; Sequence=VSP_033702; Name=3; IsoId=A8K8P3-3; Sequence=VSP_033699; Note=No experimental confirmation available.; Name=4; IsoId=A8K8P3-4; Sequence=VSP_033699, VSP_033701, VSP_033708; Note=No experimental confirmation available.; Name=5; IsoId=A8K8P3-5; Sequence=VSP_033700, VSP_033703; Note=No experimental confirmation available.; Name=9; IsoId=A8K8P3-9; Sequence=VSP_033700, VSP_033702; Note=No experimental confirmation available.; Name=10; IsoId=A8K8P3-10; Sequence=VSP_033699, VSP_038325; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton, microtubule organizing center, centrosome, centriole {ECO:0000269|PubMed:14504268, ECO:0000269|PubMed:16956364}. Note=Localized close to the centriole.


uniprotID: Q9UMS6
geneSymbol: SYNPO2
name: Synaptopodin-2 (Genethonin-2) (Myopodin)
length: 1093
go: ENSG00000172403;
snps: rs12645298 rs17263971 rs17050152 rs7698598
sequence:

opentargets:
actin cytoskeleton [GO:0015629]; cytosol [GO:0005829]; focal adhesion [GO:0005925]; intracellular membrane-bounded organelle [GO:0043231]; nucleus [GO:0005634]; stress fiber [GO:0001725]; tethering complex [GO:0099023]; Z disc [GO:0030018]; 14-3-3 protein binding [GO:0071889]; actin binding [GO:0003779]; alpha-actinin binding [GO:0051393]; filamin binding [GO:0031005]; muscle alpha-actinin binding [GO:0051371]; autophagosome assembly [GO:0000045]; positive regulation of actin filament bundle assembly [GO:0032233]; positive regulation of cell migration [GO:0030335]; regulation of Rho-dependent protein serine/threonine kinase activity [GO:2000298]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative promoter usage, Alternative splicing; Named isoforms=5;  Name=1; Synonyms=Myo1, SYNOPb, Synop2A; IsoId=Q9UMS6-1; Sequence=Displayed; Note=Produced by alternative promoter usage.; Name=2; Synonyms=Myo3, SYNOPa, Synop2C; IsoId=Q9UMS6-2; Sequence=VSP_041222; Note==Produced by alternative splicing of isoform 1. {ECO:0000244|PubMed:24275569}; Name=3; Synonyms=Myo2, SYNOPc, Synop2B; IsoId=Q9UMS6-3; Sequence=VSP_041223; Note==Produced by alternative splicing of isoform 1.; Name=4; Synonyms=Myo4, Synop2D; IsoId=Q9UMS6-4; Sequence=VSP_053771, VSP_041222; Note==Produced by alternative splicing of isoform 1. {ECO:0000244|PubMed:24275569}; Name=5; Synonyms=(delta)N-MYO1, SYNOPd, SYNOP2As; IsoId=Q9UMS6-5; Sequence=VSP_058887; Note=Produced by alternative promoter usage. {ECO:0000269|PubMed:20554076}; 

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000250|UniProtKB:Q91YE8}. Cytoplasm {ECO:0000250|UniProtKB:Q91YE8}. Cytoplasm, cytoskeleton {ECO:0000269|PubMed:24005909}. Cytoplasm, myofibril, sarcomere, Z line {ECO:0000269|PubMed:20554076}. Cell junction, focal adhesion {ECO:0000269|PubMed:20554076}. Note=Shuttles between the nucleus and the cytoplasm in a differentiation-dependent and stress-induced fashion. In undifferentiated myoblasts strongly expressed in the nucleus, after induction of myotube differentiation is located to both nucleus and cytoplasm along acting filaments, and in differentiated myotubes is located at the Z lines. Upon stress redistributes from cytoplasm of myoblasts and myotubes to the nucleus. Nuclear import is KPNA2-dependent and promoted by phosphorylation by PKA and/or CaMK2, and inhibition of calcineurin. The nuclear export is XPO1-dependent (By similarity). Localized in a fiber-like pattern, partly overlapping with filamentous actin (PubMed:18371299). {ECO:0000250|UniProtKB:Q91YE8, ECO:0000269|PubMed:18371299}.; SUBCELLULAR LOCATION: Isoform 1: Cytoplasm, cytoskeleton {ECO:0000269|PubMed:24005909}. Note=Localizes to induced actin bundles with contiguous staining. {ECO:0000269|PubMed:24005909}.; SUBCELLULAR LOCATION: Isoform 2: Cytoplasm, cytoskeleton {ECO:0000269|PubMed:24005909}. Note=Localizes to induced actin bundles with punctuate staining. {ECO:0000269|PubMed:24005909}.; SUBCELLULAR LOCATION: Isoform 3: Cytoplasm, cytoskeleton {ECO:0000269|PubMed:24005909}. Note=Localizes to induced irregular actin bundles with contiguous and punctuated staining. {ECO:0000269|PubMed:24005909}.; SUBCELLULAR LOCATION: Isoform 4: Cytoplasm, cytoskeleton {ECO:0000269|PubMed:24005909}. Note=Localizes to induced actin bundles with punctuate staining. {ECO:0000269|PubMed:24005909}.; SUBCELLULAR LOCATION: Isoform 5: Cytoplasm, cytoskeleton {ECO:0000269|PubMed:24005909}. Note=Localizes to induced actin bundles with contiguous staining. {ECO:0000269|PubMed:24005909}.


uniprotID: Q8N3V7
geneSymbol: SYNPO
name: Synaptopodin
length: 929
go: ENSG00000171992;
sequence:

opentargets:
actin cytoskeleton [GO:0015629]; bicellular tight junction [GO:0005923]; dendritic spine [GO:0043197]; glutamatergic synapse [GO:0098978]; nucleus [GO:0005634]; perikaryon [GO:0043204]; postsynaptic density [GO:0014069]; postsynaptic membrane [GO:0045211]; Schaffer collateral - CA1 synapse [GO:0098685]; spine apparatus [GO:0097444]; stress fiber [GO:0001725]; Z disc [GO:0030018]; actin binding [GO:0003779]; modification of dendritic spine [GO:0098886]; positive regulation of actin filament bundle assembly [GO:0032233]; positive regulation of postsynaptic cytosolic calcium concentration [GO:0099588]; postsynaptic modulation of chemical synaptic transmission [GO:0099170]; regulation of long-term neuronal synaptic plasticity [GO:0048169]; regulation of stress fiber assembly [GO:0051492]; spine apparatus assembly [GO:1905355]; visual learning [GO:0008542]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q8N3V7-1; Sequence=Displayed; Name=2; IsoId=Q8N3V7-2; Sequence=VSP_010476, VSP_010477; Name=3; IsoId=Q8N3V7-3; Sequence=VSP_010476; 

location:
SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton {ECO:0000250|UniProtKB:Q8CC35}. Cell junction, tight junction {ECO:0000250|UniProtKB:Q8CC35}. Perikaryon {ECO:0000250|UniProtKB:Q8CC35}. Cell projection, dendritic spine {ECO:0000250|UniProtKB:Q8CC35}. Cell junction, synapse, postsynaptic cell membrane, postsynaptic density {ECO:0000250|UniProtKB:Q8CC35}. Cell junction, synapse {ECO:0000250|UniProtKB:Q8CC35}. Note=Localized at the tight junction of cells. In brain, localized to the postsynaptic densities and in the perikarya. Associated with dendritic spines of a subset of synapses. {ECO:0000250|UniProtKB:Q8CC35}.


uniprotID: P23246
geneSymbol: SFPQ
reactome: R-HSA-8849468;
pdb: 4WII;4WIJ;4WIK;5WPA;
length: 707
go: ENSG00000116560;
name:
Splicing factor, proline- and glutamine-rich (100 kDa DNA-pairing protein) (hPOMp100) (DNA-binding p52/p100 complex, 100 kDa subunit) (Polypyrimidine tract-binding protein-associated-splicing factor) (PSF) (PTB-associated-splicing factor)

sequence:

opentargets:
chromatin [GO:0000785]; dendrite cytoplasm [GO:0032839]; nuclear matrix [GO:0016363]; nuclear speck [GO:0016607]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; paraspeckles [GO:0042382]; RNA polymerase II transcription factor complex [GO:0090575]; chromatin binding [GO:0003682]; DNA binding [GO:0003677]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; E-box binding [GO:0070888]; histone deacetylase binding [GO:0042826]; protein homodimerization activity [GO:0042803]; RNA binding [GO:0003723]; RNA polymerase II distal enhancer sequence-specific DNA binding [GO:0000980]; transcription regulatory region DNA binding [GO:0044212]; transcription regulatory region sequence-specific DNA binding [GO:0000976]; activation of innate immune response [GO:0002218]; alternative mRNA splicing, via spliceosome [GO:0000380]; dendritic transport of messenger ribonucleoprotein complex [GO:0098963]; double-strand break repair via homologous recombination [GO:0000724]; histone H3 deacetylation [GO:0070932]; innate immune response [GO:0045087]; mRNA processing [GO:0006397]; negative regulation of circadian rhythm [GO:0042754]; negative regulation of transcription by RNA polymerase II [GO:0000122]; negative regulation of transcription, DNA-templated [GO:0045892]; positive regulation of oxidative stress-induced intrinsic apoptotic signaling pathway [GO:1902177]; positive regulation of sister chromatid cohesion [GO:0045876]; positive regulation of transcription by RNA polymerase II [GO:0045944]; regulation of circadian rhythm [GO:0042752]; rhythmic process [GO:0048511]; RNA splicing [GO:0008380]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Comment=Additional isoforms seem to exist.; Name=Long; Synonyms=A; IsoId=P23246-1; Sequence=Displayed; Name=Short; Synonyms=F; IsoId=P23246-2; Sequence=VSP_005855; 

location:
SUBCELLULAR LOCATION: Nucleus speckle {ECO:0000269|PubMed:25765647}. Nucleus matrix {ECO:0000269|PubMed:10653975, ECO:0000269|PubMed:19439179, ECO:0000269|PubMed:9848648}. Cytoplasm {ECO:0000269|PubMed:19439179}. Note=Predominantly in nuclear matrix. {ECO:0000269|PubMed:19439179}.


uniprotID: Q92765
geneSymbol: FRZB
length: 325
go: ENSG00000162998;
snps: rs288326 rs7775
location: SUBCELLULAR LOCATION: Secreted {ECO:0000305}.
name:
Secreted frizzled-related protein 3 (sFRP-3) (Frezzled) (Fritz) (Frizzled-related protein 1) (FrzB-1)

sequence:

opentargets:
cytoplasm [GO:0005737]; extracellular space [GO:0005615]; membrane [GO:0016020]; Wnt-protein binding [GO:0017147]; canonical Wnt signaling pathway [GO:0060070]; cochlea morphogenesis [GO:0090103]; convergent extension involved in organogenesis [GO:0060029]; negative regulation of canonical Wnt signaling pathway [GO:0090090]; negative regulation of cartilage development [GO:0061037]; negative regulation of cell development [GO:0010721]; negative regulation of cell growth [GO:0030308]; negative regulation of cell proliferation [GO:0008285]; negative regulation of hepatocyte differentiation [GO:0070367]; negative regulation of Wnt signaling pathway [GO:0030178]; neural crest cell differentiation [GO:0014033]; non-canonical Wnt signaling pathway [GO:0035567]; positive regulation of apoptotic process [GO:0043065]; positive regulation of fat cell differentiation [GO:0045600]; skeletal system development [GO:0001501]; somite development [GO:0061053]


uniprotID: Q6FHJ7
geneSymbol: SFRP4
name: Secreted frizzled-related protein 4 (sFRP-4) (Frizzled protein, human endometrium) (FrpHE)
length: 346
go: ENSG00000106483;
snps: rs1802073 rs1802074
sequence:

opentargets:
cell surface [GO:0009986]; cytoplasm [GO:0005737]; extracellular space [GO:0005615]; nucleus [GO:0005634]; Wnt-protein binding [GO:0017147]; bone morphogenesis [GO:0060349]; canonical Wnt signaling pathway [GO:0060070]; cell differentiation [GO:0030154]; negative regulation of canonical Wnt signaling pathway [GO:0090090]; negative regulation of cell proliferation [GO:0008285]; negative regulation of DNA-binding transcription factor activity [GO:0043433]; negative regulation of non-canonical Wnt signaling pathway [GO:2000051]; negative regulation of sodium-dependent phosphate transport [GO:2000119]; negative regulation of Wnt signaling pathway [GO:0030178]; non-canonical Wnt signaling pathway [GO:0035567]; phosphate ion homeostasis [GO:0055062]; positive regulation of apoptotic process [GO:0043065]; positive regulation of canonical Wnt signaling pathway [GO:0090263]; positive regulation of epidermal cell differentiation [GO:0045606]; positive regulation of gene expression [GO:0010628]; positive regulation of keratinocyte apoptotic process [GO:1902174]; positive regulation of receptor internalization [GO:0002092]; regulation of BMP signaling pathway [GO:0030510]; response to hormone [GO:0009725]

location:
SUBCELLULAR LOCATION: Secreted {ECO:0000269|PubMed:19480240}. Note=Cytoplasmic in ovarian tumor cells.


uniprotID: Q9H7N4
geneSymbol: SCAF1
length: 1312
go: ENSG00000126461;
snps: rs3745470 rs2304208
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000305}.
name:
Splicing factor, arginine/serine-rich 19 (SR-related C-terminal domain-associated factor 1) (SR-related and CTD-associated factor 1) (SR-related-CTD-associated factor) (SCAF) (Serine arginine-rich pre-mRNA splicing factor SR-A1) (SR-A1)

sequence:

opentargets:
nucleus [GO:0005634]; protein domain specific binding [GO:0019904]; RNA binding [GO:0003723]; RNA polymerase II C-terminal domain binding [GO:0099122]; mRNA processing [GO:0006397]; RNA splicing [GO:0008380]; transcription by RNA polymerase II [GO:0006366]


uniprotID: Q5T4F7
geneSymbol: SFRP5
length: 317
go: ENSG00000120057;
snps: rs11815012
location: SUBCELLULAR LOCATION: Secreted {ECO:0000250}.
name:
Secreted frizzled-related protein 5 (sFRP-5) (Frizzled-related protein 1b) (FRP-1b) (Secreted apoptosis-related protein 3) (SARP-3)

sequence:

opentargets:
extracellular space [GO:0005615]; Wnt-protein binding [GO:0017147]; anatomical structure morphogenesis [GO:0009653]; apoptotic process [GO:0006915]; canonical Wnt signaling pathway [GO:0060070]; cell differentiation [GO:0030154]; establishment or maintenance of cell polarity [GO:0007163]; multicellular organism development [GO:0007275]; negative regulation of canonical Wnt signaling pathway [GO:0090090]; negative regulation of cell proliferation [GO:0008285]; negative regulation of DNA-binding transcription factor activity [GO:0043433]; negative regulation of protein kinase B signaling [GO:0051898]; negative regulation of Wnt signaling pathway [GO:0030178]; negative regulation of Wnt signaling pathway involved in digestive tract morphogenesis [GO:2000057]; non-canonical Wnt signaling pathway [GO:0035567]; regulation of BMP signaling pathway [GO:0030510]; signal transduction [GO:0007165]; visual perception [GO:0007601]


uniprotID: Q8WV19
geneSymbol: SFT2D1
name: Vesicle transport protein SFT2A (SFT2 domain-containing protein 1) (pRGR1)
length: 159
go: ENSG00000198818;
snps: rs11551053
location: SUBCELLULAR LOCATION: Membrane {ECO:0000255}; Multi-pass membrane protein {ECO:0000255}.
sequence:
MEKLRRVLSGQDDEEQGLTAQVLDASSLSFNTRLKWFAICFVCGVFFSILGTGLLWLPGGIKLFAVFYTLGNLAALASTCFLMGPVKQLKKMFEATRLLATIVMLLCFIFTLCAALWWHKKGLAVLFCILQFLSMTWYSLSYIPYARDAVIKCCSSLLS

opentargets:
integral component of membrane [GO:0016021]; protein transport [GO:0015031]; vesicle-mediated transport [GO:0016192]


uniprotID: O95562
geneSymbol: SFT2D2
name: Vesicle transport protein SFT2B (SFT2 domain-containing protein 2)
length: 160
go: ENSG00000213064;
location: SUBCELLULAR LOCATION: Membrane {ECO:0000255}; Multi-pass membrane protein {ECO:0000255}.
sequence:
MDKLKKVLSGQDTEDRSGLSEVVEASSLSWSTRIKGFIACFAIGILCSLLGTVLLWVPRKGLHLFAVFYTFGNIASIGSTIFLMGPVKQLKRMFEPTRLIATIMVLLCFALTLCSAFWWHNKGLALIFCILQSLALTWYSLSFIPFARDAVKKCFAVCLA

opentargets:
extracellular exosome [GO:0070062]; integral component of membrane [GO:0016021]; protein transport [GO:0015031]; vesicle-mediated transport [GO:0016192]


uniprotID: Q587I9
geneSymbol: SFT2D3
name: Vesicle transport protein SFT2C (SFT2 domain-containing protein 3)
length: 215
go: ENSG00000173349;
snps: rs10206957
location: SUBCELLULAR LOCATION: Membrane {ECO:0000255}; Multi-pass membrane protein {ECO:0000255}.
sequence:

opentargets:
integral component of membrane [GO:0016021]; protein transport [GO:0015031]; vesicle-mediated transport [GO:0016192]


uniprotID: P28702
geneSymbol: RXRB
reactome: R-HSA-1989781;R-HSA-383280;R-HSA-5362517;
pdb: 1H9U;1UHL;5HJP;5I4V;5KYA;5KYJ;
length: 533
go: ENSG00000204231;
drug: DB00459;DB00210;DB00523;DB00307;DB00926;DB00799;DB00755;
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:1310259}.
name:
Retinoic acid receptor RXR-beta (Nuclear receptor subfamily 2 group B member 2) (Retinoid X receptor beta)

sequence:

opentargets:
nucleoplasm [GO:0005654]; nucleus [GO:0005634]; 9-cis retinoic acid receptor activity [GO:0004886]; 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]; nuclear receptor activity [GO:0004879]; RNA polymerase II regulatory region sequence-specific DNA binding [GO:0000977]; steroid hormone receptor activity [GO:0003707]; transcription coactivator activity [GO:0003713]; zinc ion binding [GO:0008270]; positive regulation of transcription by RNA polymerase II [GO:0045944]; transcription initiation from RNA polymerase II promoter [GO:0006367]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P28702-1; Sequence=Displayed; Name=2; IsoId=P28702-3; Sequence=VSP_045587; 


uniprotID: P21817
geneSymbol: RYR1
reactome: R-HSA-2672351;R-HSA-5578775;
length: 5038
go: ENSG00000196218;
drug: DB00201;DB01219;DB04786;DB09085;
name:
Ryanodine receptor 1 (RYR-1) (RyR1) (Skeletal muscle calcium release channel) (Skeletal muscle ryanodine receptor) (Skeletal muscle-type ryanodine receptor) (Type 1 ryanodine receptor)

sequence:

opentargets:
calcium channel complex [GO:0034704]; cell cortex [GO:0005938]; cytoplasm [GO:0005737]; cytoplasmic vesicle membrane [GO:0030659]; extracellular exosome [GO:0070062]; I band [GO:0031674]; integral component of organelle membrane [GO:0031301]; integral component of plasma membrane [GO:0005887]; junctional membrane complex [GO:0030314]; junctional sarcoplasmic reticulum membrane [GO:0014701]; plasma membrane [GO:0005886]; ryanodine receptor complex [GO:1990425]; sarcolemma [GO:0042383]; sarcoplasmic reticulum [GO:0016529]; sarcoplasmic reticulum membrane [GO:0033017]; smooth endoplasmic reticulum [GO:0005790]; T-tubule [GO:0030315]; terminal cisterna [GO:0014802]; Z disc [GO:0030018]; ATP binding [GO:0005524]; calcium channel activity [GO:0005262]; calcium ion binding [GO:0005509]; calcium-induced calcium release activity [GO:0048763]; calcium-release channel activity [GO:0015278]; calmodulin binding [GO:0005516]; protease binding [GO:0002020]; ryanodine-sensitive calcium-release channel activity [GO:0005219]; voltage-gated calcium channel activity [GO:0005245]; calcium ion transport [GO:0006816]; cellular response to caffeine [GO:0071313]; cellular response to calcium ion [GO:0071277]; ion transmembrane transport [GO:0034220]; muscle contraction [GO:0006936]; ossification involved in bone maturation [GO:0043931]; outflow tract morphogenesis [GO:0003151]; protein homotetramerization [GO:0051289]; regulation of cardiac conduction [GO:1903779]; regulation of cytosolic calcium ion concentration [GO:0051480]; release of sequestered calcium ion into cytosol [GO:0051209]; release of sequestered calcium ion into cytosol by sarcoplasmic reticulum [GO:0014808]; response to caffeine [GO:0031000]; response to hypoxia [GO:0001666]; skeletal muscle fiber development [GO:0048741]; skin development [GO:0043588]

snps:
rs193922744 rs193922747 rs193922748 rs118192173 rs193922752 rs118192161 rs193922753 rs193922754 rs193922755 rs193922757 rs118192115 rs112596687 rs193922760 rs1801086 rs2229140 rs193922762 rs121918592 rs113332073 rs193922764 rs193922766 rs118192117 rs118192116 rs147723844 rs118192162 rs111888148 rs193922768 rs144336148 rs113812662 rs193922770 rs118192172 rs193922772 rs565825739 rs201401814 rs748676912 rs371278145 rs111272095 rs374776563 rs35719391 rs545579559 rs34694816 rs112105381 rs137933390 rs145573319 rs34404839 rs146429605 rs146504767 rs193922779 rs34934920 rs193922784 rs367543056 rs35364374 rs746818096 rs193922788 rs117886618 rs118192175 rs118192163 rs118192163 rs118192176 rs141646642 rs118192177 rs118192177 rs193922795 rs763352221 rs140152019 rs193922797 rs34390345 rs112563513 rs147213895 rs193922798 rs193922799 rs193922801 rs193922802 rs376176332 rs759306349 rs146306934 rs193922807 rs976108591 rs111364296 rs193922808 rs118192174 rs193922809 rs193922810 rs121918593 rs28933396 rs28933396 rs193922812 rs118192124 rs193922816 rs118192122 rs28933397 rs121918594 rs118192178 rs118192178 rs193922818 rs2071088 rs193922821 rs193922826 rs112196644 rs2915952 rs35180584 rs112772310 rs756870293 rs2915960 rs113422327 rs200950673 rs112151058 rs367543057 rs137932199 rs367543058 rs763259167 rs118192164 rs143987857 rs55876273 rs375915752 rs4802584 rs193922839 rs763112609 rs111565359 rs193922840 rs147136339 rs193922849 rs193922852 rs149455643 rs73933023 rs118192130 rs118192166 rs118192134 rs118192135 rs118192138 rs118192139 rs193922863 rs193922864 rs118192141 rs193922868 rs193922867 rs193922869 rs118192179 rs118192167 rs886039586 rs118192142 rs193922874 rs118192180 rs121918595 rs193922878 rs193922879 rs118192143 rs118192168 rs118192181 rs63749869 rs118192146 rs113210953 rs193922884 rs118192149 rs118192151 rs118192150 rs118192148 rs118192170 rs118192183 rs193922891 rs118192153 rs118192153 rs118192184 rs118192154 rs118192159 rs111657878 rs193922895 rs118192158 rs193922896 rs146876145 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Comment=Experimental confirmation may be lacking for some isoforms.; Name=1; IsoId=P21817-1; Sequence=Displayed; Name=2; IsoId=P21817-2; Sequence=VSP_005951; Name=3; IsoId=P21817-3; Sequence=VSP_005952; 

location:
SUBCELLULAR LOCATION: Sarcoplasmic reticulum membrane {ECO:0000269|PubMed:7556644}; Multi-pass membrane protein {ECO:0000305}. Sarcoplasmic reticulum {ECO:0000250|UniProtKB:P11716}. Note=The number of predicted transmembrane domains varies between orthologs, but the 3D-structures show the presence of six transmembrane regions. Both N-terminus and C-terminus are cytoplasmic. {ECO:0000250|UniProtKB:P11716}.


uniprotID: P33764
geneSymbol: S100A3
pdb: 1KSO;3NSI;3NSK;3NSL;3NSO;
name: Protein S100-A3 (Protein S-100E) (S100 calcium-binding protein A3)
length: 101
go: ENSG00000188015;
snps: rs36022742
location: SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:18083705}.
sequence:
MARPLEQAVAAIVCTFQEYAGRCGDKYKLCQAELKELLQKELATWTPTEFRECDYNKFMSVLDTNKDCEVDFVEYVRSLACLCLYCHEYFKDCPSEPPCSQ

opentargets:
cytosol [GO:0005829]; nucleolus [GO:0005730]; calcium ion binding [GO:0005509]; zinc ion binding [GO:0008270]


uniprotID: Q92736
geneSymbol: RYR2
reactome: R-HSA-2672351;R-HSA-5578775;
pdb: 4JKQ;
length: 4967
go: ENSG00000198626;
drug: DB09085;
name:
Ryanodine receptor 2 (RYR-2) (RyR2) (hRYR-2) (Cardiac muscle ryanodine receptor) (Cardiac muscle ryanodine receptor-calcium release channel) (Type 2 ryanodine receptor)

sequence:

opentargets:
calcium channel complex [GO:0034704]; cytoplasmic vesicle membrane [GO:0030659]; junctional sarcoplasmic reticulum membrane [GO:0014701]; membrane [GO:0016020]; plasma membrane [GO:0005886]; protein-containing complex [GO:0032991]; sarcolemma [GO:0042383]; sarcoplasmic reticulum [GO:0016529]; sarcoplasmic reticulum membrane [GO:0033017]; smooth endoplasmic reticulum [GO:0005790]; Z disc [GO:0030018]; calcium channel activity [GO:0005262]; calcium ion binding [GO:0005509]; calcium-induced calcium release activity [GO:0048763]; calcium-release channel activity [GO:0015278]; calmodulin binding [GO:0005516]; enzyme binding [GO:0019899]; identical protein binding [GO:0042802]; ion channel binding [GO:0044325]; protein kinase A catalytic subunit binding [GO:0034236]; protein kinase A regulatory subunit binding [GO:0034237]; protein self-association [GO:0043621]; ryanodine-sensitive calcium-release channel activity [GO:0005219]; suramin binding [GO:0043924]; BMP signaling pathway [GO:0030509]; calcium ion transport [GO:0006816]; calcium ion transport into cytosol [GO:0060402]; calcium-mediated signaling [GO:0019722]; calcium-mediated signaling using intracellular calcium source [GO:0035584]; canonical Wnt signaling pathway [GO:0060070]; cardiac muscle contraction [GO:0060048]; cardiac muscle hypertrophy [GO:0003300]; cell communication by electrical coupling involved in cardiac conduction [GO:0086064]; cellular calcium ion homeostasis [GO:0006874]; cellular response to caffeine [GO:0071313]; cellular response to epinephrine stimulus [GO:0071872]; detection of calcium ion [GO:0005513]; embryonic heart tube morphogenesis [GO:0003143]; establishment of protein localization to endoplasmic reticulum [GO:0072599]; ion transmembrane transport [GO:0034220]; left ventricular cardiac muscle tissue morphogenesis [GO:0003220]; positive regulation of calcium-transporting ATPase activity [GO:1901896]; positive regulation of heart rate [GO:0010460]; positive regulation of sequestering of calcium ion [GO:0051284]; positive regulation of the force of heart contraction [GO:0098735]; Purkinje myocyte to ventricular cardiac muscle cell signaling [GO:0086029]; regulation of atrial cardiac muscle cell action potential [GO:0098910]; regulation of AV node cell action potential [GO:0098904]; regulation of cardiac conduction [GO:1903779]; regulation of cardiac muscle contraction [GO:0055117]; regulation of cardiac muscle contraction by calcium ion signaling [GO:0010882]; regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion [GO:0010881]; regulation of cytosolic calcium ion concentration [GO:0051480]; regulation of heart rate [GO:0002027]; regulation of SA node cell action potential [GO:0098907]; regulation of ventricular cardiac muscle cell action potential [GO:0098911]; release of sequestered calcium ion into cytosol [GO:0051209]; release of sequestered calcium ion into cytosol by sarcoplasmic reticulum [GO:0014808]; response to caffeine [GO:0031000]; response to hypoxia [GO:0001666]; response to muscle activity [GO:0014850]; response to muscle stretch [GO:0035994]; response to redox state [GO:0051775]; sarcoplasmic reticulum calcium ion transport [GO:0070296]; type B pancreatic cell apoptotic process [GO:0097050]; ventricular cardiac muscle cell action potential [GO:0086005]

snps:
rs794728708 rs190140598 rs121918602 rs376612295 rs16835270 rs3766871 rs121918597 rs794728746 rs794728747 rs121918603 rs121918601 rs772220753 rs121918598 rs769219555 rs34967813 rs1472508624 rs794728777 rs794728784 rs121918599 rs121918605 rs121918600 rs1323621379 rs397516510 rs189345192 rs121918604 rs794728804 rs121918606 rs1185619003 rs794728811 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q92736-1; Sequence=Displayed; Name=2; IsoId=Q92736-2; Sequence=VSP_005953; 

location:
SUBCELLULAR LOCATION: Sarcoplasmic reticulum membrane {ECO:0000269|PubMed:10830164}; Multi-pass membrane protein {ECO:0000269|PubMed:10830164}. Membrane {ECO:0000305|PubMed:10830164}; Multi-pass membrane protein {ECO:0000305|PubMed:10830164}. Sarcoplasmic reticulum {ECO:0000250|UniProtKB:P30957}. Note=The number of predicted transmembrane domains varies between orthologs, but both N-terminus and C-terminus seem to be cytoplasmic. {ECO:0000250}.


uniprotID: P46059
geneSymbol: SLC15A1
reactome: R-HSA-427975;
length: 708
go: ENSG00000088386;
location: SUBCELLULAR LOCATION: Membrane; Multi-pass membrane protein.
name:
Solute carrier family 15 member 1 (Intestinal H(+)/peptide cotransporter) (Oligopeptide transporter, small intestine isoform) (Peptide transporter 1)

sequence:

opentargets:
brush border [GO:0005903]; 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]; proton-dependent oligopeptide secondary active transmembrane transporter activity [GO:0005427]; ion transport [GO:0006811]; protein transport [GO:0015031]

drug:
DB00855;DB01060;DB00415;DB08795;DB00542;DB01053;DB01197;DB00833;DB01140;DB00456;DB00535;DB01413;DB00671;DB00274;DB00493;DB01333;DB00438;DB01415;DB01332;DB01212;DB01112;DB00567;DB00672;DB01340;DB01147;DB01000;DB00485;DB00584;DB01095;DB00492;DB01016;DB01235;DB00722;DB00447;DB00968;DB00211;DB00691;DB00731;DB00198;DB00713;DB00790;DB00417;DB00881;DB00178;DB01348;DB08836;DB01124;DB00519;DB03424;DB00577;DB01610;

snps:
rs8187818 rs8187817 rs2297322 rs8187821 rs8187820 rs4646227 rs2274828 rs8187838 rs2274827 rs8187830 


uniprotID: Q96FQ6
geneSymbol: S100A16
pdb: 2L50;2L51;3NXA;
length: 103
go: ENSG00000188643;
name:
Protein S100-A16 (Aging-associated gene 13 protein) (Protein S100-F) (S100 calcium-binding protein A16)

sequence:
MSDCYTELEKAVIVLVENFYKYVSKYSLVKNKISKSSFREMLQKELNHMLSDTGNRKAADKLIQNLDANHDGRISFDEYWTLIGGITGPIAKLIHEQEQQSSS

opentargets:
cytosol [GO:0005829]; extracellular exosome [GO:0070062]; extracellular space [GO:0005615]; nucleolus [GO:0005730]; plasma membrane [GO:0005886]; calcium ion binding [GO:0005509]; protein homodimerization activity [GO:0042803]; RNA binding [GO:0003723]; response to calcium ion [GO:0051592]

location:
SUBCELLULAR LOCATION: Nucleus, nucleolus {ECO:0000269|PubMed:17030513}. Cytoplasm {ECO:0000269|PubMed:17030513}. Note=Primarily nucleolar. A high intracellular calcium level induces nucleolar exit and nucleocytoplasmic transport, whereas a low intracellular calcium level leads to nuclear translocation and accumulation within specific region of nucleoli (PubMed:17030513).


uniprotID: Q9BXP2
geneSymbol: SLC12A9
length: 914
go: ENSG00000146828;
name:
Solute carrier family 12 member 9 (Cation-chloride cotransporter 6) (hCCC6) (Cation-chloride cotransporter-interacting protein 1) (CCC-interacting protein 1) (hCIP1) (Potassium-chloride transporter 9) (WO3.3)

sequence:

opentargets:
extracellular exosome [GO:0070062]; integral component of membrane [GO:0016021]; plasma membrane [GO:0005886]; cation:chloride symporter activity [GO:0015377]; potassium:chloride symporter activity [GO:0015379]; cell volume homeostasis [GO:0006884]; chloride ion homeostasis [GO:0055064]; chloride transmembrane transport [GO:1902476]; potassium ion homeostasis [GO:0055075]; potassium ion import [GO:0010107]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=Q9BXP2-1; Sequence=Displayed; Name=2; IsoId=Q9BXP2-2; Sequence=VSP_033192, VSP_033193, VSP_033194; Note=No experimental confirmation available.; Name=3; IsoId=Q9BXP2-3; Sequence=VSP_033193, VSP_033194; Note=No experimental confirmation available.; Name=4; IsoId=Q9BXP2-4; Sequence=VSP_045591, VSP_045592; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:10871601}; Multi-pass membrane protein {ECO:0000269|PubMed:10871601}.


uniprotID: Q8N697
geneSymbol: SLC15A4
reactome: R-HSA-427975;R-HSA-6798695;
name: Solute carrier family 15 member 4 (Peptide transporter 4) (Peptide/histidine transporter 1) (hPHT1)
length: 577
go: ENSG00000139370;
snps: rs33990080
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Multi-pass membrane protein {ECO:0000305}.
sequence:

opentargets:
integral component of membrane [GO:0016021]; lysosomal membrane [GO:0005765]; plasma membrane [GO:0005886]; specific granule membrane [GO:0035579]; L-histidine transmembrane transporter activity [GO:0005290]; oligopeptide transmembrane transporter activity [GO:0035673]; peptide transmembrane transporter activity [GO:1904680]; peptide:proton symporter activity [GO:0015333]; histidine transport [GO:0015817]; ion transport [GO:0006811]; neutrophil degranulation [GO:0043312]; protein transport [GO:0015031]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q8N697-1; Sequence=Displayed; Name=2; IsoId=Q8N697-2; Sequence=VSP_034052; 


uniprotID: Q9BZW2
geneSymbol: SLC13A1
reactome: R-HSA-433137;
length: 595
go: ENSG00000081800;
drug: DB00139;
snps: rs28364181 rs28364177 rs28364196 rs2140516 rs28364231 rs10231144 rs28364200 rs28364201 rs28364210
location: SUBCELLULAR LOCATION: Membrane; Multi-pass membrane protein.
name:
Solute carrier family 13 member 1 (Renal sodium/sulfate cotransporter) (Na(+)/sulfate cotransporter) (hNaSi-1)

sequence:

opentargets:
integral component of membrane [GO:0016021]; plasma membrane [GO:0005886]; citrate transmembrane transporter activity [GO:0015137]; sodium:dicarboxylate symporter activity [GO:0017153]; sodium:sulfate symporter activity [GO:0015382]; succinate transmembrane transporter activity [GO:0015141]; citrate transport [GO:0015746]; sulfate transport [GO:0008272]


uniprotID: Q96BU1
geneSymbol: S100PBP
name: S100P-binding protein (S100P-binding protein Riken)
length: 408
go: ENSG00000116497;
sequence:

opentargets:
cytosol [GO:0005829]; nuclear speck [GO:0016607]; nucleus [GO:0005634]; calcium-dependent protein binding [GO:0048306]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1 {ECO:0000269|PubMed:15489334}; IsoId=Q96BU1-1; Sequence=Displayed; Name=2 {ECO:0000269|PubMed:14702039}; IsoId=Q96BU1-2; Sequence=VSP_052661; 

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:15632002}. Note=Colocalizes with S100P in the nucleus. {ECO:0000269|PubMed:15632002}.


uniprotID: Q9NRA2
geneSymbol: SLC17A5
reactome: R-HSA-4085001;R-HSA-428643;R-HSA-5619035;
length: 495
go: ENSG00000119899;
snps: rs80338794 rs80338795 rs119491109 rs16883930 rs119491110
name:
Sialin (H(+)/nitrate cotransporter) (H(+)/sialic acid cotransporter) (AST) (Membrane glycoprotein HP59) (Solute carrier family 17 member 5) (Vesicular H(+)/Aspartate-glutamate cotransporter)

sequence:

opentargets:
cell junction [GO:0030054]; cytosol [GO:0005829]; integral component of membrane [GO:0016021]; integral component of plasma membrane [GO:0005887]; lysosomal membrane [GO:0005765]; lysosome [GO:0005764]; membrane [GO:0016020]; plasma membrane [GO:0005886]; synaptic vesicle membrane [GO:0030672]; carbohydrate:proton symporter activity [GO:0005351]; sialic acid transmembrane transporter activity [GO:0015136]; sialic acid:proton symporter activity [GO:0015538]; amino acid transport [GO:0006865]; anion transport [GO:0006820]; ion transport [GO:0006811]; response to bacterium [GO:0009617]; sialic acid transport [GO:0015739]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9NRA2-1; Sequence=Displayed; Name=2; IsoId=Q9NRA2-2; Sequence=VSP_010482, VSP_010483; 

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:22778404}; Multi-pass membrane protein {ECO:0000269|PubMed:22778404}. Cytoplasmic vesicle, secretory vesicle, synaptic vesicle membrane {ECO:0000269|PubMed:21781115}; Multi-pass membrane protein {ECO:0000269|PubMed:21781115}. Lysosome membrane {ECO:0000269|PubMed:17897319}; Multi-pass membrane protein {ECO:0000269|PubMed:17897319}.


uniprotID: Q9UKG4
geneSymbol: SLC13A4
reactome: R-HSA-433137;
name: Solute carrier family 13 member 4 (Na(+)/sulfate cotransporter SUT-1) (NaS2)
length: 626
go: ENSG00000164707;
snps: rs36004833
location: SUBCELLULAR LOCATION: Membrane; Multi-pass membrane protein.
sequence:

opentargets:
integral component of membrane [GO:0016021]; integral component of plasma membrane [GO:0005887]; plasma membrane [GO:0005886]; citrate transmembrane transporter activity [GO:0015137]; sodium:dicarboxylate symporter activity [GO:0017153]; sodium:sulfate symporter activity [GO:0015382]; succinate transmembrane transporter activity [GO:0015141]; citrate transport [GO:0015746]; sulfate transport [GO:0008272]


uniprotID: Q86YT5
geneSymbol: SLC13A5
reactome: R-HSA-433137;
length: 568
go: ENSG00000141485;
snps: rs761917087 rs587777577 rs548065551 rs587777578 rs863225448
name:
Solute carrier family 13 member 5 (Na(+)/citrate cotransporter) (NaCT) (Sodium-coupled citrate transporter) (Sodium-dependent citrate transporter)

sequence:

opentargets:
integral component of membrane [GO:0016021]; plasma membrane [GO:0005886]; citrate transmembrane transporter activity [GO:0015137]; sodium:dicarboxylate symporter activity [GO:0017153]; succinate transmembrane transporter activity [GO:0015141]; citrate transport [GO:0015746]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=Q86YT5-1; Sequence=Displayed; Name=2; IsoId=Q86YT5-2; Sequence=VSP_043098; Note=No experimental confirmation available.; Name=3; IsoId=Q86YT5-3; Sequence=VSP_054910; Note=No experimental confirmation available.; Name=4; IsoId=Q86YT5-4; Sequence=VSP_055652; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Membrane; Multi-pass membrane protein. Cell membrane {ECO:0000269|PubMed:26384929}.


uniprotID: O76054
geneSymbol: SEC14L2
pdb: 1O6U;1OLM;4OMJ;4OMK;
length: 403
go: ENSG00000100003;
drug: DB03796;DB00163;
snps: rs757660
name:
SEC14-like protein 2 (Alpha-tocopherol-associated protein) (TAP) (hTAP) (Squalene transfer protein) (Supernatant protein factor) (SPF)

sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; extracellular exosome [GO:0070062]; nucleus [GO:0005634]; phospholipid binding [GO:0005543]; vitamin E binding [GO:0008431]; positive regulation of transcription, DNA-templated [GO:0045893]; regulation of cholesterol biosynthetic process [GO:0045540]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=O76054-1; Sequence=Displayed; Name=2; IsoId=O76054-4; Sequence=VSP_042021; Note=No experimental confirmation available.; Name=3; IsoId=O76054-5; Sequence=VSP_045880; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasm. Nucleus. Note=Cytoplasmic in absence of alpha-tocopherol, and nuclear in presence of alpha-tocopherol.


uniprotID: Q99500
geneSymbol: S1PR3
reactome: R-HSA-418594;R-HSA-419408;
length: 378
go: ENSG00000213694;
snps: rs34075341
location: SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein.
name:
Sphingosine 1-phosphate receptor 3 (S1P receptor 3) (S1P3) (Endothelial differentiation G-protein coupled receptor 3) (Sphingosine 1-phosphate receptor Edg-3) (S1P receptor Edg-3)

sequence:

opentargets:
integral component of plasma membrane [GO:0005887]; plasma membrane [GO:0005886]; G protein-coupled receptor activity [GO:0004930]; integrin binding [GO:0005178]; lipid binding [GO:0008289]; sphingosine-1-phosphate receptor activity [GO:0038036]; adenylate cyclase-inhibiting G protein-coupled receptor signaling pathway [GO:0007193]; anatomical structure morphogenesis [GO:0009653]; cytokine production [GO:0001816]; G protein-coupled receptor signaling pathway [GO:0007186]; inflammatory response [GO:0006954]; negative regulation of establishment of endothelial barrier [GO:1903141]; Notch signaling pathway [GO:0007219]; positive regulation of cell proliferation [GO:0008284]; positive regulation of cytosolic calcium ion concentration [GO:0007204]; regulation of interleukin-1 beta production [GO:0032651]


uniprotID: Q8WUM9
geneSymbol: SLC20A1
reactome: R-HSA-427652;
length: 679
go: ENSG00000144136;
location: SUBCELLULAR LOCATION: Membrane; Multi-pass membrane protein.
name:
Sodium-dependent phosphate transporter 1 (Gibbon ape leukemia virus receptor 1) (GLVR-1) (Leukemia virus receptor 1 homolog) (Phosphate transporter 1) (PiT-1) (Solute carrier family 20 member 1)

sequence:

opentargets:
integral component of plasma membrane [GO:0005887]; membrane [GO:0016020]; plasma membrane [GO:0005886]; high-affinity inorganic phosphate:sodium symporter activity [GO:0005316]; inorganic phosphate transmembrane transporter activity [GO:0005315]; signaling receptor activity [GO:0038023]; sodium-dependent phosphate transmembrane transporter activity [GO:0015321]; sodium:inorganic phosphate symporter activity [GO:0015319]; sodium:phosphate symporter activity [GO:0005436]; biomineral tissue development [GO:0031214]; ion transport [GO:0006811]; phosphate ion transmembrane transport [GO:0035435]; phosphate-containing compound metabolic process [GO:0006796]; positive regulation of I-kappaB kinase/NF-kappaB signaling [GO:0043123]


uniprotID: Q4U2R8
geneSymbol: SLC22A6
reactome: R-HSA-561048;
length: 563
go: ENSG00000197901;
snps: rs11568626 rs11568627 rs45607933
location: SUBCELLULAR LOCATION: Cell membrane {ECO:0000305}; Multi-pass membrane protein {ECO:0000305}.
name:
Solute carrier family 22 member 6 (Organic anion transporter 1) (hOAT1) (PAH transporter) (hPAHT) (Renal organic anion transporter 1) (hROAT1)

sequence:

opentargets:
basolateral plasma membrane [GO:0016323]; caveola [GO:0005901]; extracellular exosome [GO:0070062]; integral component of plasma membrane [GO:0005887]; plasma membrane [GO:0005886]; protein-containing complex [GO:0032991]; anion:anion antiporter activity [GO:0015301]; chloride ion binding [GO:0031404]; inorganic anion exchanger activity [GO:0005452]; organic anion transmembrane transporter activity [GO:0008514]; protein homodimerization activity [GO:0042803]; sodium-independent organic anion transmembrane transporter activity [GO:0015347]; alpha-ketoglutarate transport [GO:0015742]; organic anion transport [GO:0015711]; protein homooligomerization [GO:0051260]; renal tubular secretion [GO:0097254]; response to methotrexate [GO:0031427]; sodium-independent organic anion transport [GO:0043252]

drug:
DB00316;DB00819;DB06151;DB00945;DB00787;DB00718;DB00345;DB01424;DB01060;DB01435;DB00168;DB01053;DB01237;DB00887;DB04519;DB01197;DB00578;DB00821;DB00520;DB01414;DB01140;DB00456;DB01326;DB01327;DB01329;DB00493;DB00229;DB01333;DB00438;DB01212;DB00567;DB00446;DB00880;DB00672;DB00369;DB01597;DB00501;DB00827;DB01147;DB00286;DB02527;DB02315;DB00091;DB00606;DB08912;DB04133;DB00586;DB00900;DB00861;DB01160;DB00917;DB00254;DB08846;DB00584;DB00903;DB00311;DB00749;DB02266;DB00693;DB00712;DB00158;DB00529;DB00695;DB01004;DB00798;DB03553;DB01016;DB00365;DB00999;DB01050;DB00328;DB01009;DB00709;DB01137;DB00678;DB00939;DB00703;DB00563;DB01017;DB00607;DB00779;DB00788;DB00731;DB01059;DB01051;DB01165;DB03585;DB00595;DB03783;DB00812;DB00319;DB00554;DB00175;DB01032;DB00140;DB00936;DB00649;DB01082;DB00605;DB04348;DB00300;DB00759;DB01124;DB00500;DB00432;DB08844;DB00577;DB00313;DB00512;DB00943;DB00495;

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; Synonyms=OAT1-1; IsoId=Q4U2R8-1; Sequence=Displayed; Name=2; Synonyms=OAT1-2; IsoId=Q4U2R8-2; Sequence=VSP_032169; Name=3; Synonyms=OAT1-3; IsoId=Q4U2R8-3; Sequence=VSP_032168, VSP_032169; Note=No experimental confirmation available.; Name=4; Synonyms=OAT1-4; IsoId=Q4U2R8-4; Sequence=VSP_032168; Note=No experimental confirmation available.; 


uniprotID: Q9Y694
geneSymbol: SLC22A7
reactome: R-HSA-561048;
name: Solute carrier family 22 member 7 (Novel liver transporter) (Organic anion transporter 2) (hOAT2)
length: 548
go: ENSG00000137204;
snps: rs70953684 rs36040909 rs70953693
sequence:

opentargets:
basolateral plasma membrane [GO:0016323]; integral component of plasma membrane [GO:0005887]; membrane [GO:0016020]; plasma membrane [GO:0005886]; anion:anion antiporter activity [GO:0015301]; sodium-independent organic anion transmembrane transporter activity [GO:0015347]; organic anion transport [GO:0015711]

drug:
DB00945;DB00437;DB00345;DB00887;DB00456;DB01326;DB01329;DB00493;DB02659;DB00501;DB01211;DB02527;DB01160;DB00917;DB01248;DB00584;DB00544;DB01004;DB03553;DB01016;DB00328;DB01009;DB00563;DB01017;DB01303;DB00595;DB00175;DB01032;DB01045;DB00936;DB00624;DB00759;DB00277;DB00313;DB00943;DB00495;

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=Q9Y694-1; Sequence=Displayed; Name=2; IsoId=Q9Y694-2; Sequence=VSP_030992; Name=3; IsoId=Q9Y694-3; Sequence=VSP_030992, VSP_030994; Name=4; IsoId=Q9Y694-4; Sequence=VSP_030991, VSP_030993; 

location:
SUBCELLULAR LOCATION: Basolateral cell membrane {ECO:0000269|PubMed:11907186, ECO:0000269|PubMed:12023506}; Multi-pass membrane protein {ECO:0000269|PubMed:11907186, ECO:0000269|PubMed:12023506}. Note=Apical side of the renal tubule.


uniprotID: A1A5C7
geneSymbol: SLC22A23
name: Solute carrier family 22 member 23
length: 686
go: ENSG00000137266;
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Multi-pass membrane protein {ECO:0000305}.
sequence:

opentargets:
integral component of membrane [GO:0016021]; transmembrane transporter activity [GO:0022857]; ion transport [GO:0006811]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=A1A5C7-1; Sequence=Displayed; Name=2; IsoId=A1A5C7-2; Sequence=VSP_028954; Name=3; IsoId=A1A5C7-3; Sequence=VSP_028955; Note=No experimental confirmation available.; Name=4; IsoId=A1A5C7-4; Sequence=VSP_028956; Note=No experimental confirmation available.; 


uniprotID: Q9NSA0
geneSymbol: SLC22A11
reactome: R-HSA-561048;
name: Solute carrier family 22 member 11 (Organic anion transporter 4)
length: 550
go: ENSG00000168065;
snps: rs12785832
sequence:

opentargets:
apical plasma membrane [GO:0016324]; external side of plasma membrane [GO:0009897]; extracellular exosome [GO:0070062]; integral component of plasma membrane [GO:0005887]; plasma membrane [GO:0005886]; inorganic anion exchanger activity [GO:0005452]; organic anion transmembrane transporter activity [GO:0008514]; sodium-independent organic anion transmembrane transporter activity [GO:0015347]; organic anion transport [GO:0015711]; urate metabolic process [GO:0046415]

drug:
DB00345;DB00168;DB01053;DB00887;DB04519;DB00456;DB01326;DB01327;DB01329;DB00493;DB01212;DB00501;DB00286;DB04133;DB00586;DB01160;DB00917;DB00254;DB08846;DB00783;DB00695;DB03553;DB01050;DB00328;DB01009;DB11560;DB00563;DB01017;DB01051;DB00595;DB00812;DB00554;DB00175;DB01032;DB00936;DB00759;DB00495;

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9NSA0-1; Sequence=Displayed; Name=2; IsoId=Q9NSA0-2; Sequence=VSP_018319; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:15291761, ECO:0000269|PubMed:15576633}; Multi-pass membrane protein {ECO:0000269|PubMed:15291761, ECO:0000269|PubMed:15576633}.


uniprotID: Q96S37
geneSymbol: SLC22A12
reactome: R-HSA-561048;R-HSA-5619071;
length: 553
go: ENSG00000197891;
drug: DB11560;DB00678;DB01032;
name:
Solute carrier family 22 member 12 (Organic anion transporter 4-like protein) (Renal-specific transporter) (RST) (Urate anion exchanger 1)

sequence:

opentargets:
apical plasma membrane [GO:0016324]; brush border membrane [GO:0031526]; extracellular exosome [GO:0070062]; integral component of membrane [GO:0016021]; plasma membrane [GO:0005886]; PDZ domain binding [GO:0030165]; urate transmembrane transporter activity [GO:0015143]; cellular homeostasis [GO:0019725]; response to drug [GO:0042493]; urate metabolic process [GO:0046415]; urate transport [GO:0015747]

snps:
rs12800450 rs121907896 rs144328876 rs149722479 rs201181059 rs121907893 rs145738825 rs121907894 rs1047976958 rs765990518 rs121907895 rs773677616 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=Q96S37-1; Sequence=Displayed; Name=2; IsoId=Q96S37-2; Sequence=VSP_028879; Name=3; IsoId=Q96S37-3; Sequence=VSP_054054; Name=4; IsoId=Q96S37-4; Sequence=VSP_054055; 

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:12024214}; Multi-pass membrane protein {ECO:0000269|PubMed:12024214}. Note=Detected in the luminal membrane of the epithelium of renal proximal tubules.


uniprotID: Q9UHI7
geneSymbol: SLC23A1
reactome: R-HSA-196836;
length: 598
drug: DB00126;
snps: rs34521685 rs35817838 rs33972313 rs6596474
name:
Solute carrier family 23 member 1 (Na(+)/L-ascorbic acid transporter 1) (Sodium-dependent vitamin C transporter 1) (hSVCT1) (Yolk sac permease-like molecule 3)

sequence:

opentargets:
apical plasma membrane [GO:0016324]; basal plasma membrane [GO:0009925]; brush border [GO:0005903]; cytoplasm [GO:0005737]; extracellular exosome [GO:0070062]; integral component of plasma membrane [GO:0005887]; intracellular organelle [GO:0043229]; membrane [GO:0016020]; plasma membrane [GO:0005886]; dehydroascorbic acid transmembrane transporter activity [GO:0033300]; L-ascorbate:sodium symporter activity [GO:0008520]; L-ascorbic acid transmembrane transporter activity [GO:0015229]; nucleobase transmembrane transporter activity [GO:0015205]; sodium ion transmembrane transporter activity [GO:0015081]; sodium-dependent L-ascorbate transmembrane transporter activity [GO:0070890]; brain development [GO:0007420]; dehydroascorbic acid transport [GO:0070837]; L-ascorbic acid metabolic process [GO:0019852]; L-ascorbic acid transmembrane transport [GO:0015882]; lung development [GO:0030324]; nucleobase transport [GO:0015851]; nucleobase-containing compound metabolic process [GO:0006139]; response to toxic substance [GO:0009636]; sodium ion transport [GO:0006814]; transepithelial L-ascorbic acid transport [GO:0070904]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Comment=Experimental confirmation may be lacking for some isoforms.; Name=1; IsoId=Q9UHI7-1; Sequence=Displayed; Name=2; IsoId=Q9UHI7-2; Sequence=VSP_006814; Note=Inactive.; Name=3; IsoId=Q9UHI7-3; Sequence=VSP_006813; 

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:19379732}; Multi-pass membrane protein {ECO:0000269|PubMed:19379732}.


uniprotID: Q9UGH3
geneSymbol: SLC23A2
reactome: R-HSA-196836;
length: 650
go: ENSG00000089057;
name:
Solute carrier family 23 member 2 (Na(+)/L-ascorbic acid transporter 2) (Nucleobase transporter-like 1 protein) (Sodium-dependent vitamin C transporter 2) (hSVCT2) (Yolk sac permease-like molecule 2)

sequence:

opentargets:
apical plasma membrane [GO:0016324]; basal plasma membrane [GO:0009925]; basolateral plasma membrane [GO:0016323]; contractile fiber [GO:0043292]; cytoplasm [GO:0005737]; integral component of membrane [GO:0016021]; integral component of plasma membrane [GO:0005887]; membrane [GO:0016020]; plasma membrane [GO:0005886]; L-ascorbate:sodium symporter activity [GO:0008520]; L-ascorbic acid transmembrane transporter activity [GO:0015229]; nucleobase transmembrane transporter activity [GO:0015205]; sodium-dependent L-ascorbate transmembrane transporter activity [GO:0070890]; L-ascorbic acid metabolic process [GO:0019852]; L-ascorbic acid transmembrane transport [GO:0015882]; nucleobase transport [GO:0015851]; nucleobase-containing compound metabolic process [GO:0006139]; response to oxidative stress [GO:0006979]; transepithelial L-ascorbic acid transport [GO:0070904]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9UGH3-1; Sequence=Displayed; Name=2; IsoId=Q9UGH3-2; Sequence=VSP_056485; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:19379732}; Multi-pass membrane protein {ECO:0000269|PubMed:19379732}.


uniprotID: Q6PIS1
geneSymbol: SLC23A3
length: 610
go: ENSG00000213901;
opentargets: integral component of membrane [GO:0016021]; transmembrane transporter activity [GO:0022857]
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Multi-pass membrane protein {ECO:0000305}.
name:
Solute carrier family 23 member 3 (HPC E2-binding protein 3) (Na(+)/L-ascorbic acid transporter 3) (Sodium-dependent vitamin C transporter 3)

sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q6PIS1-1; Sequence=Displayed; Name=2; IsoId=Q6PIS1-2; Sequence=VSP_033970; Note=No experimental confirmation available.; Name=3; IsoId=Q6PIS1-5; Sequence=VSP_043670; Note=No experimental confirmation available.; 


uniprotID: Q9Y6Y8
geneSymbol: SEC23IP
reactome: R-HSA-204005;
name: SEC23-interacting protein (p125)
length: 1000
go: ENSG00000107651;
snps: rs2475298
sequence:

opentargets:
COPII-coated ER to Golgi transport vesicle [GO:0030134]; cytoplasm [GO:0005737]; cytosol [GO:0005829]; endoplasmic reticulum [GO:0005783]; endoplasmic reticulum-Golgi intermediate compartment [GO:0005793]; ER to Golgi transport vesicle membrane [GO:0012507]; Golgi apparatus [GO:0005794]; Golgi membrane [GO:0000139]; intracellular membrane-bounded organelle [GO:0043231]; metal ion binding [GO:0046872]; phospholipase activity [GO:0004620]; RNA binding [GO:0003723]; COPII vesicle coating [GO:0048208]; ER to Golgi vesicle-mediated transport [GO:0006888]; Golgi organization [GO:0007030]; intracellular protein transport [GO:0006886]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9Y6Y8-1; Sequence=Displayed; Name=2; IsoId=Q9Y6Y8-2; Sequence=VSP_011831, VSP_011832; Note=No experimental confirmation available.; 

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


uniprotID: Q9BSK2
geneSymbol: SLC25A33
length: 321
go: ENSG00000171612;
snps: rs35819756
name:
Solute carrier family 25 member 33 (Bone marrow stromal cell mitochondrial carrier protein) (BMSC-MCP) (HuBMSC-MCP) (Protein PNC1)

sequence:

opentargets:
integral component of membrane [GO:0016021]; mitochondrial inner membrane [GO:0005743]; mitochondrial membrane [GO:0031966]; pyrimidine nucleotide transmembrane transporter activity [GO:0015218]; cellular response to insulin stimulus [GO:0032869]; cellular response to insulin-like growth factor stimulus [GO:1990314]; mitochondria-nucleus signaling pathway [GO:0031930]; mitochondrial genome maintenance [GO:0000002]; mitochondrial respiratory chain complex III assembly [GO:0034551]; mitochondrial transcription [GO:0006390]; mitochondrion organization [GO:0007005]; positive regulation of cell growth [GO:0030307]; positive regulation of cell proliferation [GO:0008284]; pyrimidine nucleotide import into mitochondrion [GO:1990519]; pyrimidine nucleotide transport [GO:0006864]; regulation of cell cycle arrest [GO:0071156]; regulation of mitochondrial membrane potential [GO:0051881]; regulation of oxidative phosphorylation [GO:0002082]; regulation of reactive oxygen species biosynthetic process [GO:1903426]

location:
SUBCELLULAR LOCATION: Mitochondrion inner membrane {ECO:0000305|PubMed:14715278}; Multi-pass membrane protein {ECO:0000255}.


uniprotID: Q9H1U9
geneSymbol: SLC25A51
name: Solute carrier family 25 member 51 (Mitochondrial carrier triple repeat protein 1)
length: 297
go: ENSG00000122696;
opentargets: integral component of membrane [GO:0016021]; mitochondrial inner membrane [GO:0005743]
snps: rs780199922
sequence:

location:
SUBCELLULAR LOCATION: Mitochondrion inner membrane {ECO:0000305}; Multi-pass membrane protein {ECO:0000305}.


uniprotID: Q5H9E4
geneSymbol: SLC25A53
name: Solute carrier family 25 member 53 (Mitochondrial carrier triple repeat protein 6)
length: 307
go: ENSG00000269743;
opentargets: integral component of membrane [GO:0016021]; mitochondrial inner membrane [GO:0005743]
sequence:

location:
SUBCELLULAR LOCATION: Mitochondrion inner membrane {ECO:0000305}; Multi-pass membrane protein {ECO:0000305}.


uniprotID: Q5VYP0
geneSymbol: SPATA31A3
name: Spermatogenesis-associated protein 31A3 (Protein FAM75A3)
length: 1347
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Single-pass membrane protein {ECO:0000305}.
sequence:

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


uniprotID: Q5VVP1
geneSymbol: SPATA31A6
name: Spermatogenesis-associated protein 31A6 (Protein FAM75A6)
length: 1343
go: ENSG00000185775;
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Single-pass membrane protein {ECO:0000305}.
sequence:

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


uniprotID: Q8IWB4
geneSymbol: SPATA31A7
name: Spermatogenesis-associated protein 31A7 (Protein FAM75A7)
length: 1347
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Single-pass membrane protein {ECO:0000305}.
sequence:

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


uniprotID: P0DKV0
geneSymbol: SPATA31C1
name: Putative spermatogenesis-associated protein 31C1 (Protein FAM75C1)
length: 1188
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Single-pass membrane protein {ECO:0000305}.
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P0DKV0-1; Sequence=Displayed; Note=No experimental confirmation available.; Name=2; IsoId=P0DKV0-2; Sequence=VSP_044951, VSP_044952; 


uniprotID: Q6ZQQ2
geneSymbol: SPATA31D1
name: Spermatogenesis-associated protein 31D1 (Protein FAM75D1)
length: 1576
go: ENSG00000214929;
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Single-pass membrane protein {ECO:0000305}.
sequence:


uniprotID: Q9Y2D2
geneSymbol: SLC35A3
reactome: R-HSA-5619083;R-HSA-727802;
length: 325
go: ENSG00000117620;
name:
UDP-N-acetylglucosamine transporter (Golgi UDP-GlcNAc transporter) (Solute carrier family 35 member A3)

sequence:

opentargets:
Golgi apparatus [GO:0005794]; Golgi membrane [GO:0000139]; integral component of Golgi membrane [GO:0030173]; UDP-N-acetylglucosamine transmembrane transporter activity [GO:0005462]; carbohydrate transport [GO:0008643]; UDP-N-acetylglucosamine metabolic process [GO:0006047]; UDP-N-acetylglucosamine transmembrane transport [GO:1990569]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q9Y2D2-1; Sequence=Displayed; Name=2; IsoId=Q9Y2D2-2; Sequence=VSP_012786; Note=No experimental confirmation available.; Name=3; IsoId=Q9Y2D2-3; Sequence=VSP_054232, VSP_054233; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Golgi apparatus membrane {ECO:0000269|PubMed:10393322}; Multi-pass membrane protein {ECO:0000269|PubMed:10393322}.


uniprotID: Q9BS91
geneSymbol: SLC35A5
name: Probable UDP-sugar transporter protein SLC35A5 (Solute carrier family 35 member A5)
length: 424
go: ENSG00000138459;
snps: rs17849939
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Multi-pass membrane protein {ECO:0000305}.
sequence:

opentargets:
Golgi apparatus [GO:0005794]; integral component of Golgi membrane [GO:0030173]; pyrimidine nucleotide-sugar transmembrane transporter activity [GO:0015165]; sialic acid transmembrane transporter activity [GO:0015136]; carbohydrate transport [GO:0008643]


uniprotID: Q9Y2P5
geneSymbol: SLC27A5
reactome: R-HSA-159418;R-HSA-193368;R-HSA-193775;
length: 690
go: ENSG00000083807;
snps: rs35350976 rs34415062
name:
Bile acyl-CoA synthetase (BACS) (EC 6.2.1.7) (Bile acid-CoA ligase) (BA-CoA ligase) (BAL) (Cholate--CoA ligase) (Fatty acid transport protein 5) (FATP-5) (Fatty-acid-coenzyme A ligase, very long-chain 3) (Solute carrier family 27 member 5) (Very long-chain acyl-CoA synthetase homolog 2) (VLCS-H2) (VLCSH2) (Very long-chain acyl-CoA synthetase-related protein) (VLACS-related) (VLACSR)

sequence:

opentargets:
basal plasma membrane [GO:0009925]; endoplasmic reticulum [GO:0005783]; endoplasmic reticulum membrane [GO:0005789]; integral component of endoplasmic reticulum membrane [GO:0030176]; protein-containing complex [GO:0032991]; ATP binding [GO:0005524]; cholate-CoA ligase activity [GO:0047747]; fatty acid transmembrane transporter activity [GO:0015245]; long-chain fatty acid transporter activity [GO:0005324]; long-chain fatty acid-CoA ligase activity [GO:0004467]; protein-containing complex binding [GO:0044877]; very long-chain fatty acid-CoA ligase activity [GO:0031957]; bile acid and bile salt transport [GO:0015721]; bile acid biosynthetic process [GO:0006699]; bile acid metabolic process [GO:0008206]; ketone body biosynthetic process [GO:0046951]; plasma membrane long-chain fatty acid transport [GO:0015911]; triglyceride mobilization [GO:0006642]; very long-chain fatty acid metabolic process [GO:0000038]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9Y2P5-1; Sequence=Displayed; Name=2; IsoId=Q9Y2P5-2; Sequence=VSP_055810; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Endoplasmic reticulum membrane {ECO:0000269|PubMed:10479480}; Multi-pass membrane protein {ECO:0000269|PubMed:10479480}.


uniprotID: P78383
geneSymbol: SLC35B1
length: 322
go: ENSG00000121073;
snps: rs1135034
name:
Solute carrier family 35 member B1 (UDP-galactose transporter-related protein 1) (UGTrel1) (hUGTrel1)

sequence:

opentargets:
integral component of endoplasmic reticulum membrane [GO:0030176]; integral component of Golgi membrane [GO:0030173]; intracellular membrane-bounded organelle [GO:0043231]; UDP-galactose transmembrane transporter activity [GO:0005459]; carbohydrate transport [GO:0008643]; UDP-galactose transmembrane transport [GO:0072334]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P78383-1; Sequence=Displayed; Name=2; IsoId=P78383-2; Sequence=VSP_054234; Note=No experimental confirmation available. {ECO:0000244|PubMed:20068231, ECO:0000305}; 


uniprotID: Q2M3R5
geneSymbol: SLC35G1
name: Solute carrier family 35 member G1 (Partner of STIM1) (Transmembrane protein 20)
length: 365
go: ENSG00000176273;
sequence:

opentargets:
endoplasmic reticulum membrane [GO:0005789]; integral component of membrane [GO:0016021]; plasma membrane [GO:0005886]; calcium ion export across plasma membrane [GO:1990034]; regulation of cytosolic calcium ion concentration [GO:0051480]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q2M3R5-1; Sequence=Displayed; Name=2; IsoId=Q2M3R5-2; Sequence=VSP_019566; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:22084111}; Multi-pass membrane protein {ECO:0000269|PubMed:22084111}. Endoplasmic reticulum membrane {ECO:0000269|PubMed:22084111}; Multi-pass membrane protein {ECO:0000269|PubMed:22084111}. Note=Translocates from the endoplasmic reticulum to the cell membrane in response to a depletion of intracellular calcium and is detected at punctae corresponding to junctions between the endoplasmic reticulum and the cell membrane.


uniprotID: Q7Z2H8
geneSymbol: SLC36A1
reactome: R-HSA-352230;R-HSA-428559;
length: 476
go: ENSG00000123643;
drug: DB00659;DB02853;DB06554;DB00145;DB08847;DB00160;DB08835;DB01080;
snps: rs9687945
name:
Proton-coupled amino acid transporter 1 (Proton/amino acid transporter 1) (hPAT1) (Solute carrier family 36 member 1)

sequence:

opentargets:
endoplasmic reticulum [GO:0005783]; integral component of membrane [GO:0016021]; lysosomal membrane [GO:0005765]; plasma membrane [GO:0005886]; amino acid transmembrane transporter activity [GO:0015171]; amino acid:proton symporter activity [GO:0005280]; glycine transmembrane transporter activity [GO:0015187]; L-alanine transmembrane transporter activity [GO:0015180]; L-proline transmembrane transporter activity [GO:0015193]; proton transmembrane transporter activity [GO:0015078]; amino acid transmembrane transport [GO:0003333]; amino acid transport [GO:0006865]; glycine transport [GO:0015816]; ion transport [GO:0006811]; L-alanine transport [GO:0015808]; proline transmembrane transport [GO:0035524]; proton transmembrane transport [GO:1902600]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q7Z2H8-1; Sequence=Displayed; Name=2; IsoId=Q7Z2H8-3; Sequence=VSP_044392; Name=3; IsoId=Q7Z2H8-4; Sequence=VSP_044390, VSP_044391; 

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000250|UniProtKB:Q924A5}; Multi-pass membrane protein {ECO:0000255}. Lysosome membrane {ECO:0000269|PubMed:17897319}; Multi-pass membrane protein {ECO:0000269|PubMed:17897319}. Note=In neurons, colocalizes with the exocyst complex in the axonal processes. {ECO:0000250|UniProtKB:Q924A5}.


uniprotID: Q8IUI4
geneSymbol: SNX29P2
name: Putative protein SNX29P2 (RUN domain-containing protein 2C) (Sorting nexin 29 protein pseudogene 2)
length: 249
sequence:


uniprotID: Q495M3
geneSymbol: SLC36A2
reactome: R-HSA-352230;R-HSA-428559;R-HSA-5619041;
length: 483
go: ENSG00000186335;
drug: DB00260;
snps: rs77010315 rs10042608
location: SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein. Cytoplasm {ECO:0000250}.
name:
Proton-coupled amino acid transporter 2 (Proton/amino acid transporter 2) (Solute carrier family 36 member 2) (Tramdorin-1)

sequence:

opentargets:
cytoplasm [GO:0005737]; extracellular exosome [GO:0070062]; integral component of membrane [GO:0016021]; plasma membrane [GO:0005886]; amino acid transmembrane transporter activity [GO:0015171]; amino acid:proton symporter activity [GO:0005280]; glycine transmembrane transporter activity [GO:0015187]; L-alanine transmembrane transporter activity [GO:0015180]; L-proline transmembrane transporter activity [GO:0015193]; proton transmembrane transporter activity [GO:0015078]; amino acid transmembrane transport [GO:0003333]; amino acid transport [GO:0006865]; glycine transport [GO:0015816]; ion transport [GO:0006811]; L-alanine transport [GO:0015808]; proline transmembrane transport [GO:0035524]; proton transmembrane transport [GO:1902600]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q495M3-1; Sequence=Displayed; Name=2; IsoId=Q495M3-2; Sequence=VSP_032372; Note=No experimental confirmation available.; Name=3; IsoId=Q495M3-3; Sequence=VSP_032371, VSP_032373; Note=No experimental confirmation available.; 


uniprotID: P0CK97
geneSymbol: SLC35E2A
name: Solute carrier family 35 member E2A
length: 266
go: ENSG00000215790;
opentargets: integral component of membrane [GO:0016021]
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Multi-pass membrane protein {ECO:0000305}.
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P0CK97-1; Sequence=Displayed; Name=2; IsoId=P0CK97-2; Sequence=VSP_040665; 


uniprotID: Q7Z769
geneSymbol: SLC35E3
name: Solute carrier family 35 member E3 (Bladder cancer-overexpressed gene 1 protein)
length: 313
go: ENSG00000175782;
opentargets: integral component of membrane [GO:0016021]
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Multi-pass membrane protein {ECO:0000305}.
sequence:


uniprotID: Q99624
geneSymbol: SLC38A3
reactome: R-HSA-352230;
length: 504
go: ENSG00000188338;
drug: DB00174;DB00130;DB00117;
location: SUBCELLULAR LOCATION: Cell membrane {ECO:0000250}; Multi-pass membrane protein {ECO:0000250}.
name:
Sodium-coupled neutral amino acid transporter 3 (N-system amino acid transporter 1) (Na(+)-coupled neutral amino acid transporter 3) (Solute carrier family 38 member 3) (System N amino acid transporter 1)

sequence:

opentargets:
basolateral plasma membrane [GO:0016323]; integral component of plasma membrane [GO:0005887]; plasma membrane [GO:0005886]; amino acid transmembrane transporter activity [GO:0015171]; antiporter activity [GO:0015297]; L-alanine transmembrane transporter activity [GO:0015180]; L-asparagine transmembrane transporter activity [GO:0015182]; L-glutamine transmembrane transporter activity [GO:0015186]; L-histidine transmembrane transporter activity [GO:0005290]; symporter activity [GO:0015293]; amino acid transmembrane transport [GO:0003333]; amino acid transport [GO:0006865]; asparagine transport [GO:0006867]; brain development [GO:0007420]; cellular response to potassium ion starvation [GO:0051365]; female pregnancy [GO:0007565]; glutamine transport [GO:0006868]; histidine transport [GO:0015817]; L-alanine transport [GO:0015808]; positive regulation of glutamine transport [GO:2000487]; positive regulation of transcription from RNA polymerase II promoter in response to acidic pH [GO:0061402]; sodium ion transport [GO:0006814]


uniprotID: Q08AI6
geneSymbol: SLC38A11
name: Putative sodium-coupled neutral amino acid transporter 11 (Solute carrier family 38 member 11)
length: 406
go: ENSG00000169507;
snps: rs4564790
location: SUBCELLULAR LOCATION: Membrane {ECO:0000255}; Multi-pass membrane protein {ECO:0000255}.
sequence:

opentargets:
integral component of membrane [GO:0016021]; amino acid transmembrane transporter activity [GO:0015171]; amino acid transmembrane transport [GO:0003333]; sodium ion transport [GO:0006814]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q08AI6-1; Sequence=Displayed; Name=2; IsoId=Q08AI6-2; Sequence=VSP_032529; 


uniprotID: Q9NY26
geneSymbol: SLC39A1
reactome: R-HSA-442380;
length: 324
go: ENSG00000143570;
name:
Zinc transporter ZIP1 (Solute carrier family 39 member 1) (Zinc-iron-regulated transporter-like) (Zrt- and Irt-like protein 1) (ZIP-1) (hZIP1)

sequence:

opentargets:
endoplasmic reticulum membrane [GO:0005789]; integral component of membrane [GO:0016021]; membrane [GO:0016020]; plasma membrane [GO:0005886]; inorganic cation transmembrane transporter activity [GO:0022890]; signaling receptor binding [GO:0005102]; zinc ion transmembrane transporter activity [GO:0005385]; cation transport [GO:0006812]; embryonic cranial skeleton morphogenesis [GO:0048701]; in utero embryonic development [GO:0001701]; limb development [GO:0060173]; zinc ion transmembrane transport [GO:0071577]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9NY26-1; Sequence=Displayed; Name=2; IsoId=Q9NY26-2; Sequence=VSP_056522; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:11696349}; Multi-pass membrane protein {ECO:0000269|PubMed:11696349}. Endoplasmic reticulum membrane {ECO:0000269|PubMed:11696349}; Multi-pass membrane protein {ECO:0000269|PubMed:11696349}. Note=Shows a vesicular localization corresponding partially to the endoplasmic reticulum in several epithelial cell lines.


uniprotID: Q6P5W5
geneSymbol: SLC39A4
reactome: R-HSA-442380;R-HSA-5619088;
name: Zinc transporter ZIP4 (Solute carrier family 39 member 4) (Zrt- and Irt-like protein 4) (ZIP-4)
length: 647
go: ENSG00000147804;
sequence:

opentargets:
apical plasma membrane [GO:0016324]; cytoplasmic vesicle [GO:0031410]; integral component of plasma membrane [GO:0005887]; plasma membrane [GO:0005886]; recycling endosome membrane [GO:0055038]; zinc ion transmembrane transporter activity [GO:0005385]; cellular response to zinc ion starvation [GO:0034224]; cellular zinc ion homeostasis [GO:0006882]; signal transduction [GO:0007165]; zinc ion import across plasma membrane [GO:0071578]

snps:
rs2280839 rs2280838 rs117535951 rs121434292 rs121434290 rs17855765 rs886062750 rs912659693 rs121434287 rs2977838 rs7823979 rs121434293 rs782110796 rs121434291 rs2272662 rs886062748 rs1001827527 rs121434289 rs121434288 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q6P5W5-1; Sequence=Displayed; Name=2; IsoId=Q6P5W5-2; Sequence=VSP_015911, VSP_015912; 

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:14612438}; Multi-pass membrane protein {ECO:0000269|PubMed:14612438}. Recycling endosome membrane {ECO:0000269|PubMed:14612438}; Multi-pass membrane protein {ECO:0000269|PubMed:14612438}. Note=Colocalized with TFRC in the recycling endosomes. Cycles between endosomal compartments and the plasma membrane in response to zinc availability.


uniprotID: Q8IXU6
geneSymbol: SLC35F2
name: Solute carrier family 35 member F2
length: 374
go: ENSG00000110660;
opentargets: integral component of membrane [GO:0016021]; transmembrane transporter activity [GO:0022857]
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Multi-pass membrane protein {ECO:0000305}.
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q8IXU6-1; Sequence=Displayed; Name=2; IsoId=Q8IXU6-2; Sequence=VSP_028700, VSP_028701; Note=No experimental confirmation available.; Name=3; IsoId=Q8IXU6-3; Sequence=VSP_028699; Note=No experimental confirmation available.; 


uniprotID: Q96GZ6
geneSymbol: SLC41A3
name: Solute carrier family 41 member 3
length: 507
go: ENSG00000114544;
snps: rs4234270 rs11543283
location: SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein.
sequence:

opentargets:
integral component of membrane [GO:0016021]; plasma membrane [GO:0005886]; cation transmembrane transporter activity [GO:0008324]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=9;  Name=1; IsoId=Q96GZ6-1; Sequence=Displayed; Name=2; IsoId=Q96GZ6-2; Sequence=VSP_026938; Name=3; IsoId=Q96GZ6-3; Sequence=VSP_026935; Name=4; IsoId=Q96GZ6-4; Sequence=VSP_026935, VSP_026938; Name=5; IsoId=Q96GZ6-5; Sequence=VSP_026934, VSP_026937; Name=6; IsoId=Q96GZ6-6; Sequence=VSP_026936, VSP_026937; Name=7; IsoId=Q96GZ6-7; Sequence=VSP_035505, VSP_035506, VSP_026937; Name=8; IsoId=Q96GZ6-8; Sequence=VSP_043676, VSP_026937; Note=No experimental confirmation available.; Name=9; IsoId=Q96GZ6-9; Sequence=VSP_054059, VSP_054060; Note=No experimental confirmation available.; 


uniprotID: Q8NBI5
geneSymbol: SLC43A3
name: Solute carrier family 43 member 3 (Protein FOAP-13)
length: 491
go: ENSG00000134802;
opentargets: integral component of membrane [GO:0016021]; transmembrane transport [GO:0055085]
snps: rs34799622
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Multi-pass membrane protein {ECO:0000305}.
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q8NBI5-1; Sequence=Displayed; Name=2; IsoId=Q8NBI5-2; Sequence=VSP_055620; Note=No experimental confirmation available.; 


uniprotID: Q8WV83
geneSymbol: SLC35F5
length: 523
go: ENSG00000115084;
opentargets: integral component of membrane [GO:0016021]
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Multi-pass membrane protein {ECO:0000305}.
name:
Solute carrier family 35 member F5 (Hepatitis C virus NS5A-transactivated protein 3) (HCV NS5A-transactivated protein 3)

sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q8WV83-1; Sequence=Displayed; Name=2; IsoId=Q8WV83-2; Sequence=VSP_029665, VSP_029666, VSP_029667, VSP_029668; Note=No experimental confirmation available.; 


uniprotID: Q96JT2
geneSymbol: SLC45A3
reactome: R-HSA-189200;
name: Solute carrier family 45 member 3 (Prostate cancer-associated protein 6) (Prostein)
length: 553
go: ENSG00000158715;
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Multi-pass membrane protein {ECO:0000305}.
sequence:

opentargets:
integral component of membrane [GO:0016021]; plasma membrane [GO:0005886]; sucrose:proton symporter activity [GO:0008506]; sugar transmembrane transporter activity [GO:0051119]; hexose transmembrane transport [GO:0008645]; positive regulation of fatty acid biosynthetic process [GO:0045723]; positive regulation of glucose metabolic process [GO:0010907]; regulation of oligodendrocyte differentiation [GO:0048713]; sucrose transport [GO:0015770]


uniprotID: Q6UXD7
geneSymbol: SLC49A3
length: 560
go: ENSG00000169026;
opentargets: integral component of membrane [GO:0016021]; transmembrane transport [GO:0055085]
snps: rs11558585
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Multi-pass membrane protein {ECO:0000305}.
name:
Solute carrier family 49 member A3 (Major facilitator superfamily domain-containing protein 7) (Myosin light polypeptide 5 regulatory protein) (MYL5)

sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q6UXD7-1; Sequence=Displayed; Name=2; IsoId=Q6UXD7-2; Sequence=VSP_022549; Name=3; IsoId=Q6UXD7-3; Sequence=VSP_022547, VSP_022548; Note=No experimental confirmation available.; 


uniprotID: Q2Y0W8
geneSymbol: SLC4A8
reactome: R-HSA-425381;
pdb: 5JHO;
length: 1093
go: ENSG00000050438;
drug: DB01390;
snps: rs35966334 rs12318785
name:
Electroneutral sodium bicarbonate exchanger 1 (Electroneutral Na(+)-driven Cl-HCO3 exchanger) (Solute carrier family 4 member 8) (k-NBC3)

sequence:

opentargets:
integral component of plasma membrane [GO:0005887]; neuron projection [GO:0043005]; neuronal cell body membrane [GO:0032809]; plasma membrane [GO:0005886]; anion:anion antiporter activity [GO:0015301]; inorganic anion exchanger activity [GO:0005452]; sodium:bicarbonate symporter activity [GO:0008510]; bicarbonate transport [GO:0015701]; regulation of intracellular pH [GO:0051453]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=8;  Name=1 {ECO:0000269|Ref.2}; IsoId=Q2Y0W8-1; Sequence=Displayed; Name=2 {ECO:0000269|PubMed:9872452}; IsoId=Q2Y0W8-2; Sequence=VSP_052760, VSP_052765; Note=No experimental confirmation available. {ECO:0000305}; Name=3 {ECO:0000269|PubMed:11133997}; IsoId=Q2Y0W8-3; Sequence=VSP_052765; Note=May be due to an intron retention.; Name=4 {ECO:0000269|Ref.2}; IsoId=Q2Y0W8-4; Sequence=VSP_052759, VSP_052765; Note=May be due to an intron retention.; Name=5 {ECO:0000269|Ref.2}; IsoId=Q2Y0W8-5; Sequence=VSP_052759; Name=6 {ECO:0000269|PubMed:15489334}; IsoId=Q2Y0W8-6; Sequence=VSP_052761, VSP_052762; Name=7; IsoId=Q2Y0W8-7; Sequence=VSP_052759, VSP_052763, VSP_052764; Note=No experimental confirmation available. {ECO:0000305}; Name=8; IsoId=Q2Y0W8-8; Sequence=VSP_052759, VSP_052761, VSP_052762; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Membrane {ECO:0000269|PubMed:17715183}; Multi-pass membrane protein {ECO:0000269|PubMed:17715183}.


uniprotID: Q9HAB3
geneSymbol: SLC52A2
reactome: R-HSA-196843;
length: 445
go: ENSG00000185803;
drug: DB01440;
name:
Solute carrier family 52, riboflavin transporter, member 2 (Porcine endogenous retrovirus A receptor 1) (PERV-A receptor 1) (Protein GPR172A) (Riboflavin transporter 3) (hRFT3)

sequence:

opentargets:
integral component of plasma membrane [GO:0005887]; plasma membrane [GO:0005886]; riboflavin transmembrane transporter activity [GO:0032217]; virus receptor activity [GO:0001618]; riboflavin metabolic process [GO:0006771]; riboflavin transport [GO:0032218]

snps:
rs797045199 rs397514657 rs397514538 rs377740960 rs398123067 rs398123068 rs398124641 rs754320812 rs148234606 rs397514658 

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:20463145, ECO:0000269|PubMed:24253200, ECO:0000269|PubMed:27702554}; Multi-pass membrane protein {ECO:0000269|PubMed:20463145}.


uniprotID: Q9H1V8
geneSymbol: SLC6A17
length: 727
go: ENSG00000197106;
snps: rs12737742 rs775085213 rs375380880
name:
Sodium-dependent neutral amino acid transporter SLC6A17 (Sodium-dependent neurotransmitter transporter NTT4) (Solute carrier family 6 member 17)

sequence:

opentargets:
cell junction [GO:0030054]; GABA-ergic synapse [GO:0098982]; glutamatergic synapse [GO:0098978]; integral component of plasma membrane [GO:0005887]; integral component of synaptic vesicle membrane [GO:0030285]; synaptic vesicle [GO:0008021]; neurotransmitter:sodium symporter activity [GO:0005328]; alanine transport [GO:0032328]; brain development [GO:0007420]; glycine transport [GO:0015816]; leucine transport [GO:0015820]; neutral amino acid transport [GO:0015804]; proline transport [GO:0015824]

location:
SUBCELLULAR LOCATION: Cytoplasmic vesicle, secretory vesicle, synaptic vesicle membrane {ECO:0000250|UniProtKB:P31662}; Multi-pass membrane protein {ECO:0000250|UniProtKB:P31662}. Note=Localizes at synaptic junctions - at both pre- and post-synaptic sites - particularly in excitatory glutamatergic terminals. {ECO:0000250|UniProtKB:Q8BJI1}.


uniprotID: Q695T7
geneSymbol: SLC6A19
reactome: R-HSA-352230;R-HSA-442660;R-HSA-5619044;R-HSA-5659735;
length: 634
go: ENSG00000174358;
snps: rs762989809 rs121434346 rs758492838 rs200745023 rs7732589
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Multi-pass membrane protein {ECO:0000305}.
name:
Sodium-dependent neutral amino acid transporter B(0)AT1 (Solute carrier family 6 member 19) (System B(0) neutral amino acid transporter AT1)

sequence:

opentargets:
apical plasma membrane [GO:0016324]; brush border membrane [GO:0031526]; extracellular exosome [GO:0070062]; integral component of plasma membrane [GO:0005887]; plasma membrane [GO:0005886]; amino acid transmembrane transporter activity [GO:0015171]; neurotransmitter:sodium symporter activity [GO:0005328]; neutral amino acid transmembrane transporter activity [GO:0015175]; amino acid transport [GO:0006865]; response to nutrient [GO:0007584]


uniprotID: Q8TBB6
geneSymbol: SLC7A14
name: Probable cationic amino acid transporter (Solute carrier family 7 member 14)
length: 771
go: ENSG00000013293;
snps: rs587777273 rs765054383 rs2276717 rs375705180 rs79668755 rs181011740 rs587777272
sequence:

opentargets:
integral component of membrane [GO:0016021]; lysosomal membrane [GO:0005765]; transmembrane transporter activity [GO:0022857]; amino acid transport [GO:0006865]; negative regulation of phosphatase activity [GO:0010923]

location:
SUBCELLULAR LOCATION: Lysosome membrane {ECO:0000269|PubMed:22787143, ECO:0000269|PubMed:24670872}; Multi-pass membrane protein {ECO:0000269|PubMed:22787143, ECO:0000269|PubMed:24670872}. Note=Exhibits a punctated pattern in the cytoplasm, which partially ovelaps with lysosomes.


uniprotID: P0DJI8
geneSymbol: SAA1
pdb: 4IP8;4IP9;
length: 122
drug: DB00062;DB00064;
snps: rs712021 rs1059559
location: SUBCELLULAR LOCATION: Secreted {ECO:0000269|PubMed:7115671}.
reactome:
R-HSA-3000471;R-HSA-416476;R-HSA-418594;R-HSA-444473;R-HSA-445989;R-HSA-6785807;R-HSA-879415;R-HSA-933542;R-HSA-977225;

name:
Serum amyloid A-1 protein (SAA) [Cleaved into: Amyloid protein A (Amyloid fibril protein AA); Serum amyloid protein A(2-104); Serum amyloid protein A(3-104); Serum amyloid protein A(2-103); Serum amyloid protein A(2-102); Serum amyloid protein A(4-101)]

sequence:
MKLLTGLVFCSLVLGVSSRSFFSFLGEAFDGARDMWRAYSDMREANYIGSDKYFHARGNYDAAKRGPGGVWAAEAISDARENIQRFFGHGAEDSLADQAANEWGRSGKDPNHFRPAGLPEKY

opentargets:
cytoplasmic microtubule [GO:0005881]; endocytic vesicle lumen [GO:0071682]; extracellular exosome [GO:0070062]; extracellular region [GO:0005576]; extracellular space [GO:0005615]; high-density lipoprotein particle [GO:0034364]; chemoattractant activity [GO:0042056]; G protein-coupled receptor binding [GO:0001664]; heparin binding [GO:0008201]; activation of MAPK activity [GO:0000187]; acute-phase response [GO:0006953]; cell chemotaxis [GO:0060326]; cellular protein metabolic process [GO:0044267]; cytokine-mediated signaling pathway [GO:0019221]; G protein-coupled receptor signaling pathway [GO:0007186]; innate immune response [GO:0045087]; lymphocyte chemotaxis [GO:0048247]; macrophage chemotaxis [GO:0048246]; negative regulation of inflammatory response [GO:0050728]; neutrophil chemotaxis [GO:0030593]; platelet activation [GO:0030168]; positive regulation of cell adhesion [GO:0045785]; positive regulation of cytokine secretion [GO:0050715]; positive regulation of cytosolic calcium ion concentration [GO:0007204]; positive regulation of interleukin-1 secretion [GO:0050716]; receptor-mediated endocytosis [GO:0006898]; regulation of protein secretion [GO:0050708]


uniprotID: P0DJI9
geneSymbol: SAA2
name: Serum amyloid A-2 protein (SAA2)
length: 122
go: ENSG00000134339;
snps: rs2229338
location: SUBCELLULAR LOCATION: Secreted.
sequence:
MKLLTGLVFCSLVLSVSSRSFFSFLGEAFDGARDMWRAYSDMREANYIGSDKYFHARGNYDAAKRGPGGAWAAEVISNARENIQRLTGRGAEDSLADQAANKWGRSGRDPNHFRPAGLPEKY

opentargets:
extracellular exosome [GO:0070062]; extracellular space [GO:0005615]; high-density lipoprotein particle [GO:0034364]; chemoattractant activity [GO:0042056]; acute-phase response [GO:0006953]; cell chemotaxis [GO:0060326]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P0DJI9-1; Sequence=Displayed; Name=2; IsoId=P0DJI9-2; Sequence=VSP_045626; Note=No experimental confirmation available.; 


uniprotID: Q9Y2H2
geneSymbol: INPP5F
reactome: R-HSA-1660516;
pdb: 4XUU;
length: 1132
go: ENSG00000198825;
snps: rs3736822 rs3188055
name:
Phosphatidylinositide phosphatase SAC2 (EC 3.1.3.25) (Inositol polyphosphate 5-phosphatase F) (Sac domain-containing inositol phosphatase 2) (Sac domain-containing phosphoinositide 4-phosphatase 2) (hSAC2)

sequence:

opentargets:
axon [GO:0030424]; clathrin-coated endocytic vesicle [GO:0045334]; clathrin-coated pit [GO:0005905]; dendrite [GO:0030425]; early endosome [GO:0005769]; early endosome membrane [GO:0031901]; neuronal cell body [GO:0043025]; recycling endosome [GO:0055037]; inositol monophosphate 1-phosphatase activity [GO:0008934]; inositol monophosphate 3-phosphatase activity [GO:0052832]; inositol monophosphate 4-phosphatase activity [GO:0052833]; phosphatidylinositol phosphate 4-phosphatase activity [GO:0034596]; phosphatidylinositol phosphate 5-phosphatase activity [GO:0034595]; phosphatidylinositol-4-phosphate phosphatase activity [GO:0043812]; protein homodimerization activity [GO:0042803]; adult locomotory behavior [GO:0008344]; cardiac muscle hypertrophy in response to stress [GO:0014898]; clathrin-dependent endocytosis [GO:0072583]; negative regulation of axon regeneration [GO:0048681]; negative regulation of peptidyl-serine phosphorylation [GO:0033137]; negative regulation of tyrosine phosphorylation of STAT protein [GO:0042532]; phosphatidylinositol biosynthetic process [GO:0006661]; phosphatidylinositol catabolic process [GO:0031161]; phosphatidylinositol dephosphorylation [GO:0046856]; phosphatidylinositol-mediated signaling [GO:0048015]; positive regulation of receptor recycling [GO:0001921]; regulation of cell motility [GO:2000145]; regulation of endocytic recycling [GO:2001135]; regulation of protein kinase B signaling [GO:0051896]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=Q9Y2H2-1; Sequence=Displayed; Name=2; IsoId=Q9Y2H2-2; Sequence=VSP_033268, VSP_033269; Name=3; IsoId=Q9Y2H2-3; Sequence=VSP_033266, VSP_033267; Name=4; IsoId=Q9Y2H2-4; Sequence=VSP_046366, VSP_046367; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Membrane, clathrin-coated pit {ECO:0000269|PubMed:25869669}. Early endosome {ECO:0000269|PubMed:25869669}. Recycling endosome {ECO:0000269|PubMed:25869669}. Note=Also found on macropinosomes. {ECO:0000250|UniProtKB:Q8CDA1}.


uniprotID: A6NKF1
geneSymbol: SAC3D1
name: SAC3 domain-containing protein 1 (SAC3 homology domain-containing protein 1)
length: 404
snps: rs10160811 rs12271134 rs3741390
sequence:

opentargets:
cytoplasm [GO:0005737]; microtubule organizing center [GO:0005815]; spindle [GO:0005819]; cell cycle [GO:0007049]; cell division [GO:0051301]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=A6NKF1-1; Sequence=Displayed; Name=2; IsoId=A6NKF1-2; Sequence=VSP_036589; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton, microtubule organizing center, centrosome {ECO:0000250}. Cytoplasm, cytoskeleton, spindle {ECO:0000250}. Note=Localizes on centrosomes in interphase cells and at spindles in mitosis. {ECO:0000250}.


uniprotID: W5XKT8
geneSymbol: SPACA6
name: Sperm acrosome membrane-associated protein 6 (BACHELOR-like protein)
length: 324
go: ENSG00000182310;
location: SUBCELLULAR LOCATION: Membrane {ECO:0000255}; Single-pass type I membrane protein {ECO:0000255}.
sequence:

opentargets:
integral component of membrane [GO:0016021]; fusion of sperm to egg plasma membrane involved in single fertilization [GO:0007342]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=W5XKT8-1; Sequence=Displayed; Name=2; IsoId=W5XKT8-2; Sequence=VSP_057868, VSP_057871; Note=Due to intron retention. No experimental confirmation available.; Name=3; IsoId=W5XKT8-3; Sequence=VSP_057869, VSP_057870; Note=Due to intron retention. No experimental confirmation available.; 


uniprotID: Q9UBT2
geneSymbol: UBA2
reactome: R-HSA-3065676;R-HSA-3065678;
pdb: 1Y8Q;1Y8R;2PX9;3KYC;3KYD;4W5V;5FQ2;
length: 640
go: ENSG00000126261;
snps: rs1043062
name:
SUMO-activating enzyme subunit 2 (EC 2.3.2.-) (Anthracycline-associated resistance ARX) (Ubiquitin-like 1-activating enzyme E1B) (Ubiquitin-like modifier-activating enzyme 2)

sequence:

opentargets:
cytoplasm [GO:0005737]; nucleoplasm [GO:0005654]; SUMO activating enzyme complex [GO:0031510]; acid-amino acid ligase activity [GO:0016881]; ATP binding [GO:0005524]; enzyme activator activity [GO:0008047]; magnesium ion binding [GO:0000287]; protein heterodimerization activity [GO:0046982]; small protein activating enzyme binding [GO:0044388]; SUMO activating enzyme activity [GO:0019948]; SUMO binding [GO:0032183]; transcription factor binding [GO:0008134]; transferase activity [GO:0016740]; ubiquitin-like protein conjugating enzyme binding [GO:0044390]; protein sumoylation [GO:0016925]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9UBT2-1; Sequence=Displayed; Name=2; IsoId=Q9UBT2-2; Sequence=VSP_056164; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasm. Nucleus. Note=Shuttles between the cytoplasm and the nucleus, sumoylation is required either for nuclear translocation or nuclear retention.


uniprotID: Q9NXZ1
geneSymbol: SAGE1
name: Sarcoma antigen 1 (Cancer/testis antigen 14) (CT14)
length: 904
go: ENSG00000181433;
snps: rs35470903 rs4829799
sequence:

opentargets:
integrator complex [GO:0032039]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; snRNA 3'-end processing [GO:0034472]


uniprotID: O43865
geneSymbol: AHCYL1
pdb: 3MTG;
length: 530
go: ENSG00000168710;
reactome:
R-HSA-112043;R-HSA-1489509;R-HSA-2029485;R-HSA-2871809;R-HSA-422356;R-HSA-5218921;R-HSA-5578775;R-HSA-5607763;R-HSA-983695;

name:
S-adenosylhomocysteine hydrolase-like protein 1 (DC-expressed AHCY-like molecule) (IP(3)Rs binding protein released with IP(3)) (IRBIT) (Putative adenosylhomocysteinase 2) (S-adenosyl-L-homocysteine hydrolase 2) (AdoHcyase 2)

sequence:

opentargets:
apical plasma membrane [GO:0016324]; cytoplasm [GO:0005737]; cytosol [GO:0005829]; endoplasmic reticulum membrane [GO:0005789]; extracellular exosome [GO:0070062]; identical protein binding [GO:0042802]; RNA binding [GO:0003723]; angiotensin-activated signaling pathway [GO:0038166]; epithelial fluid transport [GO:0042045]; mRNA polyadenylation [GO:0006378]; one-carbon metabolic process [GO:0006730]; positive regulation of sodium ion transport [GO:0010765]; protein export from nucleus [GO:0006611]; regulation of anion transport [GO:0044070]; regulation of cardiac conduction [GO:1903779]; regulation of ion transmembrane transporter activity [GO:0032412]; regulation of mRNA 3'-end processing [GO:0031440]; response to calcium ion [GO:0051592]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=O43865-1; Sequence=Displayed; Name=2; IsoId=O43865-2; Sequence=VSP_021751; Note=Derived from EST data. {ECO:0000244|PubMed:22814378}; 

location:
SUBCELLULAR LOCATION: Endoplasmic reticulum {ECO:0000250|UniProtKB:Q80SW1}. Cytoplasm, cytosol {ECO:0000250|UniProtKB:Q80SW1}. Microsome {ECO:0000250|UniProtKB:Q80SW1}. Apical cell membrane {ECO:0000250|UniProtKB:B5DFN2}. Note=Associates with membranes when phosphorylated, probably through interaction with ITPR1. {ECO:0000250|UniProtKB:Q80SW1}.


uniprotID: P23526
geneSymbol: AHCY
reactome: R-HSA-156581;R-HSA-1614635;R-HSA-2408508;R-HSA-5578997;
pdb: 1A7A;1LI4;3NJ4;4PFJ;4PGF;4YVF;5W49;5W4B;
name: Adenosylhomocysteinase (AdoHcyase) (EC 3.3.1.1) (S-adenosyl-L-homocysteine hydrolase)
length: 432
go: ENSG00000101444;
drug: DB03273;DB03769;DB02325;
snps: rs13043752 rs369428934 rs773162208 rs755222515 rs121918608
sequence:

opentargets:
cytosol [GO:0005829]; extracellular exosome [GO:0070062]; melanosome [GO:0042470]; neuron projection [GO:0043005]; nucleus [GO:0005634]; adenosylhomocysteinase activity [GO:0004013]; adenyl nucleotide binding [GO:0030554]; identical protein binding [GO:0042802]; NAD binding [GO:0051287]; chronic inflammatory response to antigenic stimulus [GO:0002439]; circadian sleep/wake cycle [GO:0042745]; methylation [GO:0032259]; one-carbon metabolic process [GO:0006730]; response to hypoxia [GO:0001666]; response to nutrient [GO:0007584]; S-adenosylhomocysteine catabolic process [GO:0019510]; sulfur amino acid metabolic process [GO:0000096]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P23526-1; Sequence=Displayed; Name=2; IsoId=P23526-2; Sequence=VSP_045404; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:17081065}. Melanosome {ECO:0000269|PubMed:17081065}. Note=Identified by mass spectrometry in melanosome fractions from stage I to stage IV.


uniprotID: Q9NSC2
geneSymbol: SALL1
reactome: R-HSA-2892247;
length: 1324
go: ENSG00000103449;
snps: rs13336129 rs149302006
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000250}.
name:
Sal-like protein 1 (Spalt-like transcription factor 1) (Zinc finger protein 794) (Zinc finger protein SALL1) (Zinc finger protein Spalt-1) (HSal1) (Sal-1)

sequence:

opentargets:
chromocenter [GO:0010369]; cytoplasm [GO:0005737]; heterochromatin [GO:0000792]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; beta-catenin binding [GO:0008013]; DNA binding [GO:0003677]; DNA-binding transcription factor activity [GO:0003700]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; metal ion binding [GO:0046872]; proximal promoter DNA-binding transcription repressor activity, RNA polymerase II-specific [GO:0001078]; RNA polymerase II proximal promoter sequence-specific DNA binding [GO:0000978]; adrenal gland development [GO:0030325]; branching involved in ureteric bud morphogenesis [GO:0001658]; embryonic digestive tract development [GO:0048566]; embryonic digit morphogenesis [GO:0042733]; gonad development [GO:0008406]; heart development [GO:0007507]; histone deacetylation [GO:0016575]; inductive cell-cell signaling [GO:0031129]; kidney development [GO:0001822]; kidney epithelium development [GO:0072073]; limb development [GO:0060173]; mesenchymal to epithelial transition involved in metanephros morphogenesis [GO:0003337]; negative regulation of transcription by RNA polymerase II [GO:0000122]; negative regulation of transcription, DNA-templated [GO:0045892]; olfactory bulb interneuron differentiation [GO:0021889]; olfactory bulb mitral cell layer development [GO:0061034]; olfactory nerve development [GO:0021553]; outer ear morphogenesis [GO:0042473]; pituitary gland development [GO:0021983]; positive regulation of transcription by RNA polymerase II [GO:0045944]; positive regulation of transcription, DNA-templated [GO:0045893]; positive regulation of Wnt signaling pathway [GO:0030177]; regulation of transcription, DNA-templated [GO:0006355]; somatic stem cell population maintenance [GO:0035019]; ureteric bud development [GO:0001657]; ureteric bud invasion [GO:0072092]; ventricular septum development [GO:0003281]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9NSC2-1; Sequence=Displayed; Name=2; IsoId=Q9NSC2-2; Sequence=VSP_040502; 


uniprotID: Q9BXA9
geneSymbol: SALL3
name: Sal-like protein 3 (Zinc finger protein 796) (Zinc finger protein SALL3) (hSALL3)
length: 1300
go: ENSG00000256463;
snps: rs7240860 rs2447437
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000305}.
sequence:

opentargets:
nucleus [GO:0005634]; DNA binding [GO:0003677]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; metal ion binding [GO:0046872]; forelimb morphogenesis [GO:0035136]; hindlimb morphogenesis [GO:0035137]; negative regulation of smoothened signaling pathway [GO:0045879]; olfactory bulb interneuron development [GO:0021891]; regulation of transcription, DNA-templated [GO:0006355]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=3; IsoId=Q9BXA9-1; Sequence=Displayed; Name=1; IsoId=Q9BXA9-2; Sequence=VSP_006833; Note=Lacks two zinc finger domains. Major isoform with isoform 2.; Name=2; IsoId=Q9BXA9-3; Sequence=VSP_006832, VSP_006833; Note=Lacks two zinc finger domains. Major isoform with isoform 1.; Name=4; IsoId=Q9BXA9-4; Sequence=VSP_006832; 


uniprotID: Q96NU1
geneSymbol: SAMD11
name: Sterile alpha motif domain-containing protein 11 (SAM domain-containing protein 11)
length: 681
go: ENSG00000187634;
opentargets: nucleus [GO:0005634]
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000250}.
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative promoter usage, Alternative splicing; Named isoforms=6;  Comment=Many additional isoforms seem to exist.; Name=3; Synonyms=FL-SAMD11; IsoId=Q96NU1-3; Sequence=Displayed; Name=1; Synonyms=SAMD11-ASV; IsoId=Q96NU1-1; Sequence=VSP_053647, VSP_053649; Note=Produced by alternative promoter usage.; Name=2; Synonyms=AP-SAMD11-ASV; IsoId=Q96NU1-2; Sequence=VSP_053647, VSP_053650; Note=Produced by alternative promoter usage and alternative splicing.; Name=4; Synonyms=SAMD11-ASV5; IsoId=Q96NU1-4; Sequence=VSP_053648, VSP_053649; Note=Produced by alternative splicing.; Name=5; Synonyms=SAMD11-ASV1; IsoId=Q96NU1-5; Sequence=VSP_053648, VSP_053649, VSP_053650; Note=Produced by alternative splicing.; Name=6; Synonyms=SAMD11-ASV6; IsoId=Q96NU1-6; Sequence=VSP_053649; Note=Produced by alternative splicing.; 


uniprotID: Q9NSD9
geneSymbol: FARSB
reactome: R-HSA-379716;
pdb: 3L4G;
length: 589
go: ENSG00000116120;
drug: DB00120;
snps: rs7185
location: SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250}.
name:
Phenylalanine--tRNA ligase beta subunit (EC 6.1.1.20) (Phenylalanyl-tRNA synthetase beta subunit) (PheRS)

sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; membrane [GO:0016020]; phenylalanine-tRNA ligase complex [GO:0009328]; ATP binding [GO:0005524]; magnesium ion binding [GO:0000287]; phenylalanine-tRNA ligase activity [GO:0004826]; RNA binding [GO:0003723]; phenylalanyl-tRNA aminoacylation [GO:0006432]; protein heterotetramerization [GO:0051290]; translation [GO:0006412]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9NSD9-1; Sequence=Displayed; Name=2; IsoId=Q9NSD9-2; Sequence=VSP_056866; Note=No experimental confirmation available.; 


uniprotID: Q1RMZ1
geneSymbol: BMT2
length: 405
go: ENSG00000164603;
name:
S-adenosylmethionine sensor upstream of mTORC1 (Probable methyltransferase BMT2 homolog) (EC 2.1.1.-)

sequence:

opentargets:
nucleolus [GO:0005730]; rRNA (adenine) methyltransferase activity [GO:0016433]; S-adenosyl-L-methionine binding [GO:1904047]; cellular response to amino acid starvation [GO:0034198]; negative regulation of TORC1 signaling [GO:1904262]


uniprotID: Q5K651
geneSymbol: SAMD9
name: Sterile alpha motif domain-containing protein 9 (SAM domain-containing protein 9)
length: 1589
go: ENSG00000205413;
snps: rs6969691 rs10239435 rs10279499 rs121918554
location: SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:16960814, ECO:0000269|PubMed:17407603}.
sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; intracellular membrane-bounded organelle [GO:0043231]; endosomal vesicle fusion [GO:0034058]


uniprotID: Q9Y512
geneSymbol: SAMM50
reactome: R-HSA-1268020;R-HSA-8949613;
name: Sorting and assembly machinery component 50 homolog (Transformation-related gene 3 protein) (TRG-3)
length: 469
go: ENSG00000100347;
snps: rs3761472 rs8418
sequence:

opentargets:
extracellular exosome [GO:0070062]; integral component of membrane [GO:0016021]; mitochondrial outer membrane [GO:0005741]; mitochondrial sorting and assembly machinery complex [GO:0001401]; mitochondrion [GO:0005739]; cristae formation [GO:0042407]; mitochondrial respiratory chain complex assembly [GO:0033108]; protein import into mitochondrial outer membrane [GO:0045040]

location:
SUBCELLULAR LOCATION: Mitochondrion outer membrane {ECO:0000269|PubMed:15644312}; Multi-pass membrane protein. Cytoplasm {ECO:0000250|UniProtKB:Q6AXV4}. Mitochondrion {ECO:0000269|PubMed:25781180}.


uniprotID: O00422
geneSymbol: SAP18
reactome: R-HSA-3214815;R-HSA-427413;
pdb: 2HDE;
length: 153
go: ENSG00000150459;
name:
Histone deacetylase complex subunit SAP18 (18 kDa Sin3-associated polypeptide) (2HOR0202) (Cell growth-inhibiting gene 38 protein) (Sin3-associated polypeptide p18)

sequence:
MAVESRVTQEEIKKEPEKPIDREKTCPLLLRVFTTNNGRHHRMDEFSRGNVPSSELQIYTWMDATLKELTSLVKEVYPEARKKGTHFNFAIVFTDVKRPGYRVKEIGSTMSGRKGTDDSMTLQSQKFQIGDYLDIAITPPNRAPPPSGRMRPY

opentargets:
ASAP complex [GO:0061574]; cytosol [GO:0005829]; histone deacetylase complex [GO:0000118]; nuclear body [GO:0016604]; nuclear speck [GO:0016607]; nucleoplasm [GO:0005654]; histone deacetylase activity [GO:0004407]; RNA binding [GO:0003723]; transcription corepressor activity [GO:0003714]; mRNA processing [GO:0006397]; negative regulation of mRNA splicing, via spliceosome [GO:0048025]; positive regulation of apoptotic process [GO:0043065]; regulation of alternative mRNA splicing, via spliceosome [GO:0000381]; regulation of transcription by RNA polymerase II [GO:0006357]; RNA splicing [GO:0008380]

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:16314458}. Cytoplasm {ECO:0000269|PubMed:16314458}. Nucleus speckle {ECO:0000269|PubMed:20966198}. Note=Shuttles between the nucleus and the cytoplasm (PubMed:16314458). Colocalizes with ACIN1 and SRSF2 in nuclear speckles (PubMed:20966198). {ECO:0000269|PubMed:16314458, ECO:0000269|PubMed:20966198}.


uniprotID: Q9Y3Z3
geneSymbol: SAMHD1
reactome: R-HSA-8956319;R-HSA-909733;
length: 626
go: ENSG00000101347;
pdb:
2E8O;3U1N;4BZB;4BZC;4CC9;4MZ7;4Q7H;4QFX;4QFY;4QFZ;4QG0;4QG1;4QG2;4QG4;4RXO;4RXP;4RXQ;4RXR;4RXS;4TNP;4TNQ;4TNR;4TNX;4TNY;4TNZ;4TO0;4TO1;4TO2;4TO3;4TO4;4TO5;4TO6;4ZWE;4ZWG;5AO0;5AO1;5AO2;5AO3;5AO4;

name:
Deoxynucleoside triphosphate triphosphohydrolase SAMHD1 (dNTPase) (EC 3.1.5.-) (Dendritic cell-derived IFNG-induced protein) (DCIP) (Monocyte protein 5) (MOP-5) (SAM domain and HD domain-containing protein 1) (hSAMHD1)

sequence:

opentargets:
intracellular [GO:0005622]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; plasma membrane [GO:0005886]; site of double-strand break [GO:0035861]; dGTP binding [GO:0032567]; dGTPase activity [GO:0008832]; GTP binding [GO:0005525]; identical protein binding [GO:0042802]; nucleic acid binding [GO:0003676]; ribonuclease activity [GO:0004540]; RNA binding [GO:0003723]; single-stranded DNA binding [GO:0003697]; triphosphoric monoester hydrolase activity [GO:0016793]; zinc ion binding [GO:0008270]; cellular response to DNA damage stimulus [GO:0006974]; dATP catabolic process [GO:0046061]; defense response to virus [GO:0051607]; deoxyribonucleotide catabolic process [GO:0009264]; dGTP catabolic process [GO:0006203]; DNA strand resection involved in replication fork processing [GO:0110025]; double-strand break repair via homologous recombination [GO:0000724]; immune response [GO:0006955]; negative regulation of type I interferon-mediated signaling pathway [GO:0060339]; protein homotetramerization [GO:0051289]; regulation of innate immune response [GO:0045088]; somatic hypermutation of immunoglobulin genes [GO:0016446]; type I interferon signaling pathway [GO:0060337]

snps:
rs121434520 rs387906948 rs369035155 rs515726145 rs138603088 rs121434516 rs121434521 rs559553527 rs515726139 rs515726140 rs774964432 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q9Y3Z3-1; Sequence=Displayed; Name=3; Synonyms=delta8-9; IsoId=Q9Y3Z3-3; Sequence=VSP_046561; Note=Catalytically inactive.; Name=4; Synonyms=delta14; IsoId=Q9Y3Z3-4; Sequence=VSP_046562; Note=Catalytically inactive.; 

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:19525956, ECO:0000269|PubMed:23092512, ECO:0000269|PubMed:23858451, ECO:0000269|PubMed:24035396, ECO:0000269|PubMed:28229507}. Chromosome {ECO:0000269|PubMed:28834754}. Note=Localizes to sites of DNA double-strand breaks in response to DNA damage. {ECO:0000269|PubMed:28834754}.


uniprotID: Q96BY9
geneSymbol: SARAF
length: 339
go: ENSG00000133872;
snps: rs11538828
name:
Store-operated calcium entry-associated regulatory factor (SARAF) (SOCE-associated regulatory factor) (HBV X-transactivated gene 3 protein) (HBV XAg-transactivated protein 3) (Protein FOAP-7) (Transmembrane protein 66)

sequence:

opentargets:
endoplasmic reticulum [GO:0005783]; integral component of endoplasmic reticulum membrane [GO:0030176]; calcium ion transport [GO:0006816]; regulation of store-operated calcium entry [GO:2001256]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q96BY9-1; Sequence=Displayed; Name=2; Synonyms=Short; IsoId=Q96BY9-2; Sequence=VSP_043773; 

location:
SUBCELLULAR LOCATION: Endoplasmic reticulum membrane {ECO:0000269|PubMed:22464749}; Single-pass type I membrane protein {ECO:0000269|PubMed:22464749}. Note=Translocates to the endoplasmic reticulum-plasma membrane (ER-PM) region in a STIM1-dependent manner following cytosolic Ca(2+) elevation.; SUBCELLULAR LOCATION: Isoform 2: Endoplasmic reticulum membrane; Single-pass type I membrane protein.


uniprotID: P43007
geneSymbol: SLC1A4
reactome: R-HSA-352230;
length: 532
go: ENSG00000115902;
drug: DB00160;
snps: rs1064512 rs201278558 rs759458 rs761533681
name:
Neutral amino acid transporter A (Alanine/serine/cysteine/threonine transporter 1) (ASCT-1) (SATT) (Solute carrier family 1 member 4)

sequence:

opentargets:
cell surface [GO:0009986]; centrosome [GO:0005813]; dendrite [GO:0030425]; extracellular exosome [GO:0070062]; integral component of membrane [GO:0016021]; integral component of plasma membrane [GO:0005887]; intermediate filament [GO:0005882]; melanosome [GO:0042470]; membrane [GO:0016020]; microtubule organizing center [GO:0005815]; neuronal cell body [GO:0043025]; plasma membrane [GO:0005886]; amino acid transmembrane transporter activity [GO:0015171]; chloride channel activity [GO:0005254]; L-alanine transmembrane transporter activity [GO:0015180]; L-cystine transmembrane transporter activity [GO:0015184]; L-glutamine transmembrane transporter activity [GO:0015186]; L-hydroxyproline transmembrane transporter activity [GO:0034590]; L-proline transmembrane transporter activity [GO:0015193]; L-serine transmembrane transporter activity [GO:0015194]; L-threonine transmembrane transporter activity [GO:0015195]; symporter activity [GO:0015293]; amino acid transport [GO:0006865]; cognition [GO:0050890]; glutamine transport [GO:0006868]; hydroxyproline transport [GO:0034589]; L-alanine transport [GO:0015808]; L-cystine transport [GO:0015811]; L-serine transport [GO:0015825]; proline transport [GO:0015824]; synaptic transmission, glutamatergic [GO:0035249]; threonine transport [GO:0015826]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P43007-1; Sequence=Displayed; Name=2; IsoId=P43007-2; Sequence=VSP_042880, VSP_042881; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Membrane {ECO:0000269|PubMed:17081065}; Multi-pass membrane protein {ECO:0000269|PubMed:17081065}. Melanosome {ECO:0000269|PubMed:17081065}. Note=Identified by mass spectrometry in melanosome fractions from stage I to stage IV.


uniprotID: Q9NV23
geneSymbol: OLAH
reactome: R-HSA-75105;
pdb: 4XJV;
length: 265
go: ENSG00000152463;
location: SUBCELLULAR LOCATION: Cytoplasm, cytosol {ECO:0000250|UniProtKB:P08635}.
name:
S-acyl fatty acid synthase thioesterase, medium chain (EC 3.1.2.14) (Augmented in rheumatoid arthritis 1) (AURA1) (Oleoyl-ACP hydrolase) (Thioesterase 2) (TE2) (Thioesterase II) (Thioesterase domain-containing protein 1)

sequence:

opentargets:
cytosol [GO:0005829]; dodecanoyl-[acyl-carrier-protein] hydrolase activity [GO:0047381]; myristoyl-[acyl-carrier-protein] hydrolase activity [GO:0016295]; oleoyl-[acyl-carrier-protein] hydrolase activity [GO:0004320]; palmitoyl-[acyl-carrier-protein] hydrolase activity [GO:0016296]; lipid biosynthetic process [GO:0008610]; medium-chain fatty acid biosynthetic process [GO:0051792]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9NV23-1; Sequence=Displayed; Name=2; IsoId=Q9NV23-2; Sequence=VSP_040022; 


uniprotID: Q9H4B6
geneSymbol: SAV1
reactome: R-HSA-2028269;
pdb: 6AO5;
name: Protein salvador homolog 1 (45 kDa WW domain protein) (hWW45)
length: 383
go: ENSG00000151748;
sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; nucleus [GO:0005634]; identical protein binding [GO:0042802]; protein-containing complex scaffold activity [GO:0032947]; apoptotic process [GO:0006915]; hair follicle development [GO:0001942]; hippo signaling [GO:0035329]; intestinal epithelial cell differentiation [GO:0060575]; keratinocyte differentiation [GO:0030216]; lung epithelial cell differentiation [GO:0060487]; negative regulation of cardiac muscle cell proliferation [GO:0060044]; negative regulation of epithelial cell proliferation [GO:0050680]; positive regulation of apoptotic process [GO:0043065]; positive regulation of DNA-binding transcription factor activity [GO:0051091]; positive regulation of fat cell differentiation [GO:0045600]; protein stabilization [GO:0050821]; regulation of stem cell population maintenance [GO:2000036]; ventricular septum morphogenesis [GO:0060412]

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:19212654}. Cytoplasm {ECO:0000269|PubMed:19212654}.


uniprotID: Q9Y3A5
geneSymbol: SBDS
pdb: 2KDO;2L9N;5AN9;5ANB;5ANC;
name: Ribosome maturation protein SBDS (Shwachman-Bodian-Diamond syndrome protein)
length: 250
go: ENSG00000126524;
snps: rs28942099 rs373730800 rs113993995 rs113993996 rs79344818
sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; nucleolus [GO:0005730]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; spindle pole [GO:0000922]; microtubule binding [GO:0008017]; ribosome binding [GO:0043022]; RNA binding [GO:0003723]; rRNA binding [GO:0019843]; bone marrow development [GO:0048539]; bone mineralization [GO:0030282]; cell proliferation [GO:0008283]; inner cell mass cell proliferation [GO:0001833]; leukocyte chemotaxis [GO:0030595]; mature ribosome assembly [GO:0042256]; mitotic spindle organization [GO:0007052]; rRNA processing [GO:0006364]

location:
SUBCELLULAR LOCATION: Cytoplasm. Nucleus, nucleolus. Nucleus, nucleoplasm. Cytoplasm, cytoskeleton, spindle. Note=Primarily detected in the cytoplasm, and at low levels in nucleus and nucleolus (PubMed:19602484 and PubMed:17475909). Detected in the nucleolus during G1 and G2 phase of the cell cycle, and diffusely distributed in the nucleus during S phase. Detected at the mitotic spindle. Colocalizes with the microtubule organizing center during interphase (PubMed:19759903). {ECO:0000269|PubMed:19759903}.


uniprotID: Q9Y2G9
geneSymbol: SBNO2
name: Protein strawberry notch homolog 2
length: 1366
go: ENSG00000064932;
sequence:

opentargets:
nucleus [GO:0005634]; bone mineralization [GO:0030282]; bone trabecula morphogenesis [GO:0061430]; cellular response to interleukin-11 [GO:0071348]; cellular response to interleukin-6 [GO:0071354]; cellular response to leukemia inhibitory factor [GO:1990830]; cellular response to lipopolysaccharide [GO:0071222]; macrophage activation involved in immune response [GO:0002281]; negative regulation of transcription, DNA-templated [GO:0045892]; osteoclast differentiation [GO:0030316]; osteoclast fusion [GO:0072675]; positive regulation of transcription by RNA polymerase II [GO:0045944]; regulation of inflammatory response [GO:0050727]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9Y2G9-1; Sequence=Displayed; Name=2; IsoId=Q9Y2G9-3; Sequence=VSP_041216; 


uniprotID: Q6UWP8
geneSymbol: SBSN
name: Suprabasin
length: 590
go: ENSG00000189001;
opentargets: extracellular exosome [GO:0070062]
snps: rs10775583
location: SUBCELLULAR LOCATION: Secreted {ECO:0000250}.
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q6UWP8-1; Sequence=Displayed; Name=2; IsoId=Q6UWP8-2; Sequence=VSP_044973; 


uniprotID: Q96JE7
geneSymbol: SEC16B
reactome: R-HSA-204005;
length: 1060
go: ENSG00000120341;
snps: rs12040910 rs943762 rs7522194 rs591120 rs3813649
name:
Protein transport protein Sec16B (Leucine zipper transcription regulator 2) (Regucalcin gene promoter region-related protein p117) (RGPR-p117) (SEC16 homolog B)

sequence:

opentargets:
cytosol [GO:0005829]; endoplasmic reticulum exit site [GO:0070971]; endoplasmic reticulum membrane [GO:0005789]; ER to Golgi transport vesicle membrane [GO:0012507]; Golgi membrane [GO:0000139]; intracellular membrane-bounded organelle [GO:0043231]; COPII vesicle coating [GO:0048208]; endoplasmic reticulum organization [GO:0007029]; Golgi organization [GO:0007030]; peroxisome fission [GO:0016559]; peroxisome organization [GO:0007031]; positive regulation of gene expression [GO:0010628]; positive regulation of protein exit from endoplasmic reticulum [GO:0070863]; protein localization to endoplasmic reticulum exit site [GO:0070973]; protein transport [GO:0015031]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q96JE7-1; Sequence=Displayed; Name=2; IsoId=Q96JE7-2; Sequence=VSP_034373, VSP_034374; Name=3; IsoId=Q96JE7-3; Sequence=VSP_034371, VSP_034372, VSP_034375, VSP_034376; 

location:
SUBCELLULAR LOCATION: Endoplasmic reticulum membrane {ECO:0000250}; Peripheral membrane protein {ECO:0000250}. Golgi apparatus membrane {ECO:0000250}; Peripheral membrane protein {ECO:0000250}.


uniprotID: Q96IW7
geneSymbol: SEC22A
reactome: R-HSA-204005;
length: 307
go: ENSG00000121542;
name:
Vesicle-trafficking protein SEC22a (SEC22 vesicle-trafficking protein homolog A) (SEC22 vesicle-trafficking protein-like 2)

sequence:

opentargets:
endoplasmic reticulum membrane [GO:0005789]; integral component of membrane [GO:0016021]; transporter activity [GO:0005215]; ER to Golgi vesicle-mediated transport [GO:0006888]; protein transport [GO:0015031]


uniprotID: A0PJK1
geneSymbol: SLC5A10
reactome: R-HSA-189200;
name: Sodium/glucose cotransporter 5 (Na(+)/glucose cotransporter 5) (Solute carrier family 5 member 10)
length: 596
go: ENSG00000154025;
snps: rs12604020
sequence:

opentargets:
extracellular exosome [GO:0070062]; integral component of membrane [GO:0016021]; plasma membrane [GO:0005886]; solute:sodium symporter activity [GO:0015370]; hexose transmembrane transport [GO:0008645]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=5;  Name=1; Synonyms=IF2; IsoId=A0PJK1-1; Sequence=Displayed; Name=2; Synonyms=IF3; IsoId=A0PJK1-2; Sequence=VSP_029417; Name=3; IsoId=A0PJK1-3; Sequence=VSP_029416, VSP_029417, VSP_029418, VSP_029419; Note=No experimental confirmation available.; Name=4; Synonyms=IF1; IsoId=A0PJK1-4; Sequence=VSP_029418; Name=5; Synonyms=IF4; IsoId=A0PJK1-5; Sequence=VSP_045061; 

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:22212718}; Multi-pass membrane protein {ECO:0000269|PubMed:22212718}.


uniprotID: P60468
geneSymbol: SEC61B
reactome: R-HSA-1236974;R-HSA-1799339;R-HSA-381038;
name: Protein transport protein Sec61 subunit beta
sequence: MPGPTPSGTNVGSSGRSPSKAVAARAAGSTVRQRKNASCGTRSAGRTTSAGTGGMWRFYTEDSPGLKVGPVPVLVMSLLFIASVFMLHIWGKYTRS
length: 96
go: ENSG00000106803;
location: SUBCELLULAR LOCATION: Endoplasmic reticulum membrane; Single-pass membrane protein.
opentargets:
cytosol [GO:0005829]; endoplasmic reticulum [GO:0005783]; endoplasmic reticulum membrane [GO:0005789]; endoplasmic reticulum Sec complex [GO:0031205]; integral component of membrane [GO:0016021]; membrane [GO:0016020]; Sec61 translocon complex [GO:0005784]; ARF guanyl-nucleotide exchange factor activity [GO:0005086]; epidermal growth factor binding [GO:0048408]; RNA binding [GO:0003723]; posttranslational protein targeting to membrane, translocation [GO:0031204]; protein import into nucleus, translocation [GO:0000060]; retrograde protein transport, ER to cytosol [GO:0030970]; SRP-dependent cotranslational protein targeting to membrane, translocation [GO:0006616]; ubiquitin-dependent ERAD pathway [GO:0030433]


uniprotID: Q9UPN6
geneSymbol: SCAF8
pdb: 2DIW;3D9I;3D9J;3D9K;3D9L;3D9M;3D9N;3D9O;3D9P;
length: 1271
go: ENSG00000213079;
snps: rs34802160
name:
Protein SCAF8 (CDC5L complex-associated protein 7) (RNA-binding motif protein 16) (SR-related and CTD-associated factor 8)

sequence:

opentargets:
cytoplasm [GO:0005737]; mRNA cleavage factor complex [GO:0005849]; nuclear matrix [GO:0016363]; nucleoplasm [GO:0005654]; spliceosomal complex [GO:0005681]; mRNA binding [GO:0003729]; RNA polymerase core enzyme binding [GO:0043175]; RNA polymerase II complex binding [GO:0000993]; mRNA polyadenylation [GO:0006378]; RNA splicing [GO:0008380]; termination of RNA polymerase II transcription [GO:0006369]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9UPN6-1; Sequence=Displayed; Name=2; IsoId=Q9UPN6-2; Sequence=VSP_056149, VSP_056150; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Nucleus. Nucleus matrix. Note=Detected in granular nuclear foci which correspond to sites of active transcription. {ECO:0000250}.


