# annotation

uniprotID: O75264
geneSymbol: SMIM24
name: Small integral membrane protein 24
length: 130
go: ENSG00000095932;
opentargets: integral component of membrane [GO:0016021]
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Single-pass membrane protein {ECO:0000305}.
sequence:
METLGALLVLEFLLLSPVEAQQATEHRLKPWLVGLAAVVGFLFIVYLVLLANRLWCSKARAEDEEETTFRMESNLYQDQSEDKREKKEAKEKEEKRKKEKKTAKEGESNLGLDLEEKEPGDHERAKSTVM


uniprotID: P57059
geneSymbol: SIK1
reactome: R-HSA-400253;
length: 783
go: ENSG00000142178;
drug: DB08912;
snps: rs3746951 rs45491503 rs786205159 rs34164089 rs430554 rs786205163 rs56386767 rs35596465
name:
Serine/threonine-protein kinase SIK1 (EC 2.7.11.1) (Salt-inducible kinase 1) (SIK-1) (Serine/threonine-protein kinase SNF1-like kinase 1) (Serine/threonine-protein kinase SNF1LK)

sequence:

opentargets:
cytoplasm [GO:0005737]; nucleotide-activated protein kinase complex [GO:0031588]; nucleus [GO:0005634]; 14-3-3 protein binding [GO:0071889]; ATP binding [GO:0005524]; cAMP response element binding protein binding [GO:0008140]; magnesium ion binding [GO:0000287]; protein kinase binding [GO:0019901]; protein serine/threonine kinase activity [GO:0004674]; cardiac muscle cell differentiation [GO:0055007]; cell cycle [GO:0007049]; cellular response to glucose starvation [GO:0042149]; entrainment of circadian clock by photoperiod [GO:0043153]; intracellular signal transduction [GO:0035556]; negative regulation of CREB transcription factor activity [GO:0032792]; negative regulation of gluconeogenesis [GO:0045721]; negative regulation of TOR signaling [GO:0032007]; negative regulation of triglyceride biosynthetic process [GO:0010868]; positive regulation of anoikis [GO:2000210]; protein autophosphorylation [GO:0046777]; protein phosphorylation [GO:0006468]; regulation of cell differentiation [GO:0045595]; regulation of mitotic cell cycle [GO:0007346]; regulation of myotube differentiation [GO:0010830]; regulation of sodium ion transport [GO:0002028]; rhythmic process [GO:0048511]

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:16306228}. Nucleus {ECO:0000269|PubMed:16306228}. Note=Following ACTH (adrenocorticotropic hormone) treatment and subsequent phosphorylation by PKA, translocates to the cytoplasm, where it binds to YWHAZ.


uniprotID: Q9NXA8
geneSymbol: SIRT5
reactome: R-HSA-2151201;
pdb: 2B4Y;2NYR;3RIG;3RIY;4F4U;4F56;4G1C;4HDA;5BWL;5XHS;6EQS;
length: 310
go: ENSG00000124523;
drug: DB03478;DB02059;DB02701;DB04786;
snps: rs9464003 rs34162626
name:
NAD-dependent protein deacylase sirtuin-5, mitochondrial (EC 3.5.1.-) (Regulatory protein SIR2 homolog 5) (SIR2-like protein 5)

sequence:

opentargets:
cytosol [GO:0005829]; mitochondrial inner membrane [GO:0005743]; mitochondrial intermembrane space [GO:0005758]; mitochondrial matrix [GO:0005759]; mitochondrion [GO:0005739]; nucleus [GO:0005634]; NAD+ ADP-ribosyltransferase activity [GO:0003950]; NAD+ binding [GO:0070403]; NAD-dependent protein deacetylase activity [GO:0034979]; protein-glutaryllysine deglutarylase activity [GO:0061697]; protein-malonyllysine demalonylase activity [GO:0036054]; protein-succinyllysine desuccinylase activity [GO:0036055]; zinc ion binding [GO:0008270]; chromatin silencing [GO:0006342]; mitochondrion organization [GO:0007005]; negative regulation of cardiac muscle cell apoptotic process [GO:0010667]; negative regulation of reactive oxygen species metabolic process [GO:2000378]; peptidyl-lysine demalonylation [GO:0036047]; peptidyl-lysine desuccinylation [GO:0036049]; protein ADP-ribosylation [GO:0006471]; protein deacetylation [GO:0006476]; protein deglutarylation [GO:0061698]; protein demalonylation [GO:0036046]; protein desuccinylation [GO:0036048]; regulation of ketone biosynthetic process [GO:0010566]; response to nutrient levels [GO:0031667]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=Q9NXA8-1; Sequence=Displayed; Name=2; IsoId=Q9NXA8-2; Sequence=VSP_008730, VSP_008731; Note=No experimental confirmation available.; Name=3; IsoId=Q9NXA8-3; Sequence=VSP_042292; Note=No experimental confirmation available.; Name=4; IsoId=Q9NXA8-4; Sequence=VSP_042291; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Mitochondrion matrix. Mitochondrion intermembrane space. Cytoplasm, cytosol. Nucleus. Note=Mainly mitochondrial. Also present extramitochondrially, with a fraction present in the cytosol and very small amounts also detected in the nucleus.; SUBCELLULAR LOCATION: Isoform 1: Cytoplasm {ECO:0000269|PubMed:21143562}. Mitochondrion {ECO:0000255|HAMAP-Rule:MF_03160, ECO:0000269|PubMed:21143562}.; SUBCELLULAR LOCATION: Isoform 2: Mitochondrion {ECO:0000255|HAMAP-Rule:MF_03160, ECO:0000269|PubMed:21143562}.


uniprotID: P49591
geneSymbol: SARS
reactome: R-HSA-2408557;R-HSA-379716;
pdb: 3VBB;4L87;4RQE;4RQF;
length: 514
go: ENSG00000031698;
drug: DB00133;
name:
Serine--tRNA ligase, cytoplasmic (EC 6.1.1.11) (Seryl-tRNA synthetase) (SerRS) (Seryl-tRNA(Ser/Sec) synthetase)

sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; extracellular exosome [GO:0070062]; nucleus [GO:0005634]; ATP binding [GO:0005524]; protein homodimerization activity [GO:0042803]; RNA binding [GO:0003723]; RNA polymerase II proximal promoter sequence-specific DNA binding [GO:0000978]; selenocysteine-tRNA ligase activity [GO:0098619]; serine-tRNA ligase activity [GO:0004828]; negative regulation of angiogenesis [GO:0016525]; negative regulation of transcription by RNA polymerase II [GO:0000122]; negative regulation of vascular endothelial growth factor production [GO:1904046]; selenocysteine metabolic process [GO:0016259]; selenocysteinyl-tRNA(Sec) biosynthetic process [GO:0097056]; seryl-tRNA aminoacylation [GO:0006434]; translation [GO:0006412]; tRNA aminoacylation for protein translation [GO:0006418]; tRNA processing [GO:0008033]

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:22353712, ECO:0000269|PubMed:28236339}. Nucleus {ECO:0000269|PubMed:22353712}. Note=Predominantly cytoplasmic, but a minor proportion is also found in the nucleus. {ECO:0000269|PubMed:22353712}.


uniprotID: Q8N6T7
geneSymbol: SIRT6
reactome: R-HSA-1912408;R-HSA-5693607;
pdb: 3K35;3PKI;3PKJ;3ZG6;5MF6;5MFP;5MFZ;5MGN;5X16;
length: 355
go: ENSG00000077463;
snps: rs352493
name:
NAD-dependent protein deacetylase sirtuin-6 (EC 3.5.1.-) (Regulatory protein SIR2 homolog 6) (SIR2-like protein 6)

sequence:

opentargets:
cytoplasm [GO:0005737]; nuclear telomeric heterochromatin [GO:0005724]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; chromatin binding [GO:0003682]; NAD(P)+-protein-arginine ADP-ribosyltransferase activity [GO:0003956]; NAD+ ADP-ribosyltransferase activity [GO:0003950]; NAD+ binding [GO:0070403]; NAD-dependent histone deacetylase activity [GO:0017136]; NAD-dependent histone deacetylase activity (H3-K9 specific) [GO:0046969]; NAD-dependent protein deacetylase activity [GO:0034979]; transcription corepressor activity [GO:0003714]; zinc ion binding [GO:0008270]; base-excision repair [GO:0006284]; glucose homeostasis [GO:0042593]; negative regulation of cell proliferation [GO:0008285]; negative regulation of glucose import [GO:0046325]; negative regulation of glycolytic process [GO:0045820]; negative regulation of transcription, DNA-templated [GO:0045892]; positive regulation blood vessel branching [GO:1905555]; positive regulation of chondrocyte proliferation [GO:1902732]; positive regulation of chromatin silencing at telomere [GO:0031940]; positive regulation of cold-induced thermogenesis [GO:0120162]; positive regulation of fibroblast proliferation [GO:0048146]; positive regulation of stem cell proliferation [GO:2000648]; positive regulation of telomere maintenance [GO:0032206]; positive regulation of telomeric heterochromatin assembly [GO:1905549]; positive regulation of vascular endothelial cell proliferation [GO:1905564]; post-embryonic cardiac muscle cell growth involved in heart morphogenesis [GO:0003247]; protein ADP-ribosylation [GO:0006471]; protein destabilization [GO:0031648]; regulation of double-strand break repair via homologous recombination [GO:0010569]; response to nutrient levels [GO:0031667]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q8N6T7-1; Sequence=Displayed; Name=2; IsoId=Q8N6T7-2; Sequence=VSP_008733; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Nucleus, nucleoplasm {ECO:0000269|PubMed:16079181, ECO:0000269|PubMed:18337721, ECO:0000269|PubMed:19135889}. Note=Predominantly nuclear. Associated with telomeric heterochromatin regions.


uniprotID: Q5TFQ8
geneSymbol: SIRPB1
pdb: 2JJV;
name: Signal-regulatory protein beta-1 isoform 3 (SIRP-beta-1 isoform 3)
length: 398
go: ENSG00000101307;
opentargets: integral component of membrane [GO:0016021]
snps: rs1535882 rs1135196
location: SUBCELLULAR LOCATION: Membrane; Single-pass type I membrane protein.
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=3; IsoId=Q5TFQ8-1; Sequence=Displayed; Name=1; IsoId=O00241-1; Sequence=External; Name=2; IsoId=O00241-2; Sequence=External; Note=No experimental confirmation available.; 


uniprotID: A0A1B0GUA5
geneSymbol: SMIM32
name: Small integral membrane protein 32
length: 103
go: ENSG00000271824;
opentargets: integral component of membrane [GO:0016021]
location: SUBCELLULAR LOCATION: Membrane {ECO:0000255}; Single-pass membrane protein {ECO:0000255}.
sequence:
MYGDIFNATGGPEAAVGSALAPGATVKAEGALPLELATARGMRDGAATKPDLPTYLLLFFLLLLSVALVVLFIGCQLRHSAFAALPHDRSLRDARAPWKTRPV


uniprotID: Q8WVK7
geneSymbol: SKA2
reactome: R-HSA-141444;R-HSA-2467813;R-HSA-2500257;R-HSA-5663220;R-HSA-68877;
pdb: 4AJ5;
name: Spindle and kinetochore-associated protein 2 (Protein FAM33A)
length: 121
go: ENSG00000182628;
sequence:
MEAEVDKLELMFQKAESDLDYIQYRLEYEIKTNHPDSASEKNPVTLLKELSVIKSRYQTLYARFKPVAVEQKESKSRICATVKKTMNMIQKLQKQTDLELSPLTKEEKTAAEQFKFHMPDL

opentargets:
condensed chromosome outer kinetochore [GO:0000940]; cytosol [GO:0005829]; spindle microtubule [GO:0005876]; microtubule binding [GO:0008017]; cell division [GO:0051301]; chromosome segregation [GO:0007059]; mitotic cell cycle [GO:0000278]; regulation of microtubule polymerization or depolymerization [GO:0031110]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q8WVK7-1; Sequence=Displayed; Name=2; IsoId=Q8WVK7-2; Sequence=VSP_047348, VSP_047349; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton, spindle {ECO:0000269|PubMed:17093495, ECO:0000269|PubMed:19289083}. Chromosome, centromere, kinetochore {ECO:0000269|PubMed:17093495, ECO:0000269|PubMed:19289083}. Note=Localizes to the outer kinetochore and spindle microtubules during mitosis in a NDC80 complex-dependent manner. Localizes to both the mitotic spindle and kinetochore-associated proteins. {ECO:0000269|PubMed:17093495, ECO:0000269|PubMed:19289083}.


uniprotID: Q8IX90
geneSymbol: SKA3
pdb: 4AJ5;
name: Spindle and kinetochore-associated protein 3
length: 412
go: ENSG00000165480;
snps: rs11546983 rs17345690 rs17279819
sequence:

opentargets:
condensed chromosome outer kinetochore [GO:0000940]; cytoplasm [GO:0005737]; kinetochore [GO:0000776]; spindle microtubule [GO:0005876]; cell division [GO:0051301]; chromosome segregation [GO:0007059]; mitotic cell cycle [GO:0000278]; regulation of microtubule polymerization or depolymerization [GO:0031110]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q8IX90-1; Sequence=Displayed; Name=2; IsoId=Q8IX90-2; Sequence=VSP_040527, VSP_040528; 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=Q8IX90-3; Sequence=VSP_037245; 

location:
SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton, spindle. Chromosome, centromere, kinetochore {ECO:0000269|PubMed:19289083, ECO:0000269|PubMed:19360002, ECO:0000269|PubMed:20813266}. Note=Localizes to the outer kinetochore and spindle microtubules during mitosis in a NDC80 complex-dependent manner. {ECO:0000269|PubMed:19360002}.


uniprotID: Q9UBY0
geneSymbol: SLC9A2
reactome: R-HSA-425986;
name: Sodium/hydrogen exchanger 2 (Na(+)/H(+) exchanger 2) (NHE-2) (Solute carrier family 9 member 2)
length: 812
go: ENSG00000115616;
snps: rs1386751319
location: SUBCELLULAR LOCATION: Membrane; Multi-pass membrane protein.
sequence:

opentargets:
integral component of membrane [GO:0016021]; plasma membrane [GO:0005886]; potassium:proton antiporter activity [GO:0015386]; sodium:proton antiporter activity [GO:0015385]; ion transport [GO:0006811]; potassium ion transmembrane transport [GO:0071805]; protein localization [GO:0008104]; regulation of intracellular pH [GO:0051453]; sodium ion import across plasma membrane [GO:0098719]


uniprotID: Q96A28
geneSymbol: SLAMF9
name: SLAM family member 9 (CD2 family member 10) (CD2F-10) (CD84 homolog 1) (CD84-H1)
length: 289
go: ENSG00000162723;
opentargets: integral component of membrane [GO:0016021]
snps: rs34540580 rs2789417 rs35438196 rs34884993
location: SUBCELLULAR LOCATION: Membrane; Single-pass type I membrane protein.
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q96A28-1; Sequence=Displayed; Name=2; IsoId=Q96A28-2; Sequence=VSP_015819, VSP_015820; 


uniprotID: Q9H6Q3
geneSymbol: SLA2
pdb: 4M4Z;
length: 261
go: ENSG00000101082;
snps: rs34834764
name:
Src-like-adapter 2 (Modulator of antigen receptor signaling) (MARS) (Src-like adapter protein 2) (SLAP-2)

sequence:

opentargets:
cytoplasm [GO:0005737]; endosome membrane [GO:0010008]; Golgi apparatus [GO:0005794]; intracellular membrane-bounded organelle [GO:0043231]; late endosome [GO:0005770]; nucleoplasm [GO:0005654]; phosphatidylinositol 3-kinase complex [GO:0005942]; plasma membrane [GO:0005886]; 1-phosphatidylinositol-3-kinase regulator activity [GO:0046935]; protein N-terminus binding [GO:0047485]; SH3/SH2 adaptor activity [GO:0005070]; antigen receptor-mediated signaling pathway [GO:0050851]; B cell mediated immunity [GO:0019724]; intracellular receptor signaling pathway [GO:0030522]; negative regulation of B cell activation [GO:0050869]; negative regulation of calcium-mediated signaling [GO:0050849]; negative regulation of insulin receptor signaling pathway [GO:0046627]; negative regulation of transcription by RNA polymerase II [GO:0000122]; phosphatidylinositol phosphorylation [GO:0046854]; regulation of immune response [GO:0050776]; T cell activation [GO:0042110]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing, Alternative initiation; Named isoforms=4;  Name=1; Synonyms=p28; IsoId=Q9H6Q3-1; Sequence=Displayed; Name=2; Synonyms=p23, SLAP-2-v, MARS-v; IsoId=Q9H6Q3-2; Sequence=VSP_007240, VSP_007241; Name=3; Synonyms=p25; IsoId=Q9H6Q3-3; Sequence=VSP_018794; Note=Produced by alternative initiation at Met-28 of isoform 1.; Name=4; Synonyms=p20; IsoId=Q9H6Q3-4; Sequence=VSP_018794, VSP_007240, VSP_007241; Note=Produced by alternative initiation at Met-28 of isoform 2.; 

location:
SUBCELLULAR LOCATION: Cytoplasm.; SUBCELLULAR LOCATION: Isoform 1: Cell membrane. Cytoplasmic vesicle. Note=Localized to the plasma membrane and intracellular vesicles, including late endosomal vesicles.; SUBCELLULAR LOCATION: Isoform 2: Cytoplasm {ECO:0000305}. Note=May be cytoplasmic and is not localized to membranes.


uniprotID: Q86UD5
geneSymbol: SLC9B2
reactome: R-HSA-2672351;
length: 537
go: ENSG00000164038;
snps: rs7672710 rs7672707 rs2276976
name:
Sodium/hydrogen exchanger 9B2 (Na(+)/H(+) exchanger NHA2) (Na(+)/H(+) exchanger-like domain-containing protein 2) (NHE domain-containing protein 2) (Sodium/hydrogen exchanger-like domain-containing protein 2) (Solute carrier family 9 subfamily B member 2)

sequence:

opentargets:
apical plasma membrane [GO:0016324]; basolateral plasma membrane [GO:0016323]; cell junction [GO:0030054]; endosome membrane [GO:0010008]; integral component of membrane [GO:0016021]; mitochondrial inner membrane [GO:0005743]; mitochondrial membrane [GO:0031966]; plasma membrane [GO:0005886]; sperm principal piece [GO:0097228]; synaptic vesicle membrane [GO:0030672]; identical protein binding [GO:0042802]; lithium:proton antiporter activity [GO:0010348]; monovalent cation:proton antiporter activity [GO:0005451]; sodium:proton antiporter activity [GO:0015385]; clathrin-dependent endocytosis [GO:0072583]; flagellated sperm motility [GO:0030317]; ion transmembrane transport [GO:0034220]; positive regulation of osteoclast development [GO:2001206]; regulation of insulin secretion involved in cellular response to glucose stimulus [GO:0061178]; sodium ion transport [GO:0006814]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q86UD5-1; Sequence=Displayed; Name=2; IsoId=Q86UD5-2; Sequence=VSP_033152, VSP_033153; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:18000046}; Multi-pass membrane protein {ECO:0000255}. Mitochondrion membrane {ECO:0000269|PubMed:18508966}; Multi-pass membrane protein {ECO:0000255}. Endosome membrane {ECO:0000250|UniProtKB:Q5BKR2}; Multi-pass membrane protein {ECO:0000255}. Cytoplasmic vesicle, secretory vesicle, synaptic vesicle membrane {ECO:0000250|UniProtKB:Q5BKR2}; Multi-pass membrane protein {ECO:0000250|UniProtKB:Q5BKR2}. Cell projection, cilium, flagellum membrane {ECO:0000250|UniProtKB:Q5BKR2}; Multi-pass membrane protein {ECO:0000255}. Basolateral cell membrane {ECO:0000250|UniProtKB:Q5BKR2}; Multi-pass membrane protein {ECO:0000255}. Apical cell membrane {ECO:0000250|UniProtKB:Q5BKR2}; Multi-pass membrane protein {ECO:0000255}. Note=Strong colocalization with LAMP1 and TCIRG1 in osteoclasts. In beta-cells colocalizes with RAB4A and SYP. Localizes to the basolateral membrane of polarized osteoclasts. {ECO:0000250|UniProtKB:Q5BKR2}.


uniprotID: Q9BRT9
geneSymbol: GINS4
reactome: R-HSA-176974;
pdb: 2E9X;2EHO;2Q9Q;
length: 223
go: ENSG00000147536;
location: SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250}. Nucleus {ECO:0000250}.
name:
DNA replication complex GINS protein SLD5 (GINS complex subunit 4) [Cleaved into: DNA replication complex GINS protein SLD5, N-terminally processed]

sequence:

opentargets:
cytoplasm [GO:0005737]; GINS complex [GO:0000811]; nucleoplasm [GO:0005654]; replication fork protection complex [GO:0031298]; DNA duplex unwinding [GO:0032508]; DNA strand elongation involved in DNA replication [GO:0006271]; double-strand break repair via break-induced replication [GO:0000727]; inner cell mass cell proliferation [GO:0001833]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9BRT9-1; Sequence=Displayed; Name=2; IsoId=Q9BRT9-2; Sequence=VSP_032738, VSP_032739; 


uniprotID: Q96PX8
geneSymbol: SLITRK1
reactome: R-HSA-388844;
pdb: 4RCA;4RCW;
name: SLIT and NTRK-like protein 1 (Leucine-rich repeat-containing protein 12)
length: 696
go: ENSG00000178235;
snps: rs150504822 rs7491932 rs1035448844
sequence:

opentargets:
cell junction [GO:0030054]; extracellular region [GO:0005576]; GABA-ergic synapse [GO:0098982]; glutamatergic synapse [GO:0098978]; integral component of postsynaptic density membrane [GO:0099061]; plasma membrane [GO:0005886]; synapse [GO:0045202]; adult behavior [GO:0030534]; axonogenesis [GO:0007409]; homeostatic process [GO:0042592]; multicellular organism growth [GO:0035264]; positive regulation of axonogenesis [GO:0050772]; positive regulation of synapse assembly [GO:0051965]; regulation of presynapse assembly [GO:1905606]; synapse assembly [GO:0007416]; synaptic membrane adhesion [GO:0099560]

location:
SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Single-pass type I membrane protein {ECO:0000305}. Secreted {ECO:0000269|PubMed:19640509}. Cell junction, synapse {ECO:0000250|UniProtKB:Q810C1}.


uniprotID: Q9H2G2
geneSymbol: SLK
pdb: 2J51;2JFL;2JFM;2UV2;4USF;
length: 1235
go: ENSG00000065613;
snps: rs805657 rs190220654 rs56400929 rs7071400 rs34326537 rs35389916 rs3740469
location: SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250}.
name:
STE20-like serine/threonine-protein kinase (STE20-like kinase) (hSLK) (EC 2.7.11.1) (CTCL tumor antigen se20-9) (STE20-related serine/threonine-protein kinase) (STE20-related kinase) (Serine/threonine-protein kinase 2)

sequence:

opentargets:
cell leading edge [GO:0031252]; cytoplasm [GO:0005737]; extracellular exosome [GO:0070062]; perinuclear region of cytoplasm [GO:0048471]; ATP binding [GO:0005524]; cadherin binding [GO:0045296]; identical protein binding [GO:0042802]; protein homodimerization activity [GO:0042803]; protein serine/threonine kinase activity [GO:0004674]; activation of protein kinase activity [GO:0032147]; apoptotic process [GO:0006915]; cytoplasmic microtubule organization [GO:0031122]; protein autophosphorylation [GO:0046777]; regulation of apoptotic process [GO:0042981]; regulation of cell migration [GO:0030334]; regulation of focal adhesion assembly [GO:0051893]; signal transduction by protein phosphorylation [GO:0023014]; stress-activated protein kinase signaling cascade [GO:0031098]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9H2G2-1; Sequence=Displayed; Name=2; IsoId=Q9H2G2-2; Sequence=VSP_018100; 


uniprotID: Q8IW52
geneSymbol: SLITRK4
reactome: R-HSA-388844;
name: SLIT and NTRK-like protein 4
length: 837
go: ENSG00000179542;
snps: rs143575705 rs781863874
sequence:

opentargets:
glutamatergic synapse [GO:0098978]; integral component of membrane [GO:0016021]; plasma membrane [GO:0005886]; axonogenesis [GO:0007409]; positive regulation of synapse assembly [GO:0051965]; regulation of synapse organization [GO:0050807]

location:
SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Single-pass type I membrane protein {ECO:0000305}. Cell membrane {ECO:0000269|PubMed:27812321}.


uniprotID: O94813
geneSymbol: SLIT2
pdb: 2V70;2V9S;2V9T;2WFH;
length: 1529
go: ENSG00000145147;
snps: rs771375896
reactome:
R-HSA-373752;R-HSA-376176;R-HSA-428540;R-HSA-428542;R-HSA-428543;R-HSA-428890;R-HSA-8985586;R-HSA-9010553;

name:
Slit homolog 2 protein (Slit-2) [Cleaved into: Slit homolog 2 protein N-product; Slit homolog 2 protein C-product]

sequence:

opentargets:
cell surface [GO:0009986]; cytoplasm [GO:0005737]; extracellular exosome [GO:0070062]; extracellular region [GO:0005576]; extracellular space [GO:0005615]; membrane [GO:0016020]; plasma membrane [GO:0005886]; calcium ion binding [GO:0005509]; GTPase inhibitor activity [GO:0005095]; heparin binding [GO:0008201]; identical protein binding [GO:0042802]; laminin-1 binding [GO:0043237]; protein homodimerization activity [GO:0042803]; proteoglycan binding [GO:0043394]; Roundabout binding [GO:0048495]; aortic valve morphogenesis [GO:0003180]; apoptotic process involved in luteolysis [GO:0061364]; axon extension involved in axon guidance [GO:0048846]; axon guidance [GO:0007411]; branching morphogenesis of an epithelial tube [GO:0048754]; cell migration involved in sprouting angiogenesis [GO:0002042]; cellular response to heparin [GO:0071504]; cellular response to hormone stimulus [GO:0032870]; chemorepulsion involved in postnatal olfactory bulb interneuron migration [GO:0021836]; corticospinal neuron axon guidance through spinal cord [GO:0021972]; induction of negative chemotaxis [GO:0050929]; motor neuron axon guidance [GO:0008045]; negative chemotaxis [GO:0050919]; negative regulation of actin filament polymerization [GO:0030837]; negative regulation of cell growth [GO:0030308]; negative regulation of cell migration [GO:0030336]; negative regulation of cellular response to growth factor stimulus [GO:0090288]; negative regulation of chemokine-mediated signaling pathway [GO:0070100]; negative regulation of endothelial cell migration [GO:0010596]; negative regulation of lamellipodium assembly [GO:0010593]; negative regulation of leukocyte chemotaxis [GO:0002689]; negative regulation of monocyte chemotaxis [GO:0090027]; negative regulation of mononuclear cell migration [GO:0071676]; negative regulation of neutrophil chemotaxis [GO:0090024]; negative regulation of protein phosphorylation [GO:0001933]; negative regulation of retinal ganglion cell axon guidance [GO:0090260]; negative regulation of small GTPase mediated signal transduction [GO:0051058]; negative regulation of smooth muscle cell chemotaxis [GO:0071672]; negative regulation of smooth muscle cell migration [GO:0014912]; negative regulation of vascular permeability [GO:0043116]; positive regulation of apoptotic process [GO:0043065]; positive regulation of axonogenesis [GO:0050772]; pulmonary valve morphogenesis [GO:0003184]; response to cortisol [GO:0051414]; retinal ganglion cell axon guidance [GO:0031290]; Roundabout signaling pathway [GO:0035385]; ureteric bud development [GO:0001657]; ventricular septum morphogenesis [GO:0060412]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1 {ECO:0000305}; IsoId=O94813-1; Sequence=Displayed; Name=2 {ECO:0000305}; IsoId=O94813-2; Sequence=VSP_050035, VSP_050036; Name=3 {ECO:0000305}; IsoId=O94813-3; Sequence=VSP_050036; 

location:
SUBCELLULAR LOCATION: Secreted {ECO:0000269|PubMed:10102268}. Note=The C-terminal cleavage protein is more diffusible than the larger N-terminal protein that is more tightly cell associated.


uniprotID: Q8IYM2
geneSymbol: SLFN12
name: Schlafen family member 12
length: 578
go: ENSG00000172123;
opentargets: ATP binding [GO:0005524]
snps: rs1849733 rs2586514 rs12946189
sequence:


uniprotID: Q68D06
geneSymbol: SLFN13
name: Schlafen family member 13 (EC 3.1.-.-) (Schlafen-13) (hSLFN13)
length: 897
go: ENSG00000154760;
snps: rs12943866 rs7216628 rs16970912 rs11657183 rs3744371
location: SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:29563550}.
sequence:

opentargets:
cytoplasm [GO:0005737]; intracellular [GO:0005622]; ATP binding [GO:0005524]; endoribonuclease activity [GO:0004521]; tRNA binding [GO:0000049]; zinc ion binding [GO:0008270]; defense response to virus [GO:0051607]; rRNA catabolic process [GO:0016075]; tRNA catabolic process [GO:0016078]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q68D06-1; Sequence=Displayed; Name=2; IsoId=Q68D06-2; Sequence=VSP_024273; 


uniprotID: Q499Z3
geneSymbol: SLFNL1
name: Schlafen-like protein 1
length: 407
go: ENSG00000171790;
opentargets: ATP binding [GO:0005524]
snps: rs1138293 rs17851964 rs3738368
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=Q499Z3-1; Sequence=Displayed; Name=2; IsoId=Q499Z3-2; Sequence=VSP_024276; Note=No experimental confirmation available.; Name=3; IsoId=Q499Z3-3; Sequence=VSP_024278; Name=4; IsoId=Q499Z3-4; Sequence=VSP_024275, VSP_024277; Note=No experimental confirmation available.; 


uniprotID: P55000
geneSymbol: SLURP1
pdb: 2MUO;2MUP;
length: 103
go: ENSG00000126233;
snps: rs121908318 rs121908319 rs1181208026 rs28937888 rs772388665 rs121908320
name:
Secreted Ly-6/uPAR-related protein 1 (SLURP-1) (ARS component B) (ARS(component B)-81/S) (Anti-neoplastic urinary protein) (ANUP)

sequence:
MASRWAVQLLLVAAWSMGCGEALKCYTCKEPMTSASCRTITRCKPEDTACMTTLVTVEAEYPFNQSPVVTRSCSSSCVATDPDSIGAAHLIFCCFRDLCNSEL

opentargets:
extracellular exosome [GO:0070062]; extracellular region [GO:0005576]; extracellular space [GO:0005615]; acetylcholine receptor activator activity [GO:0030549]; cytokine activity [GO:0005125]; cell activation [GO:0001775]; cell adhesion [GO:0007155]; locomotory behavior [GO:0007626]; negative regulation of cell migration [GO:0030336]; negative regulation of cell proliferation [GO:0008285]; negative regulation of keratinocyte proliferation [GO:0010839]; neuromuscular process controlling posture [GO:0050884]; urokinase plasminogen activator signaling pathway [GO:0038195]

location:
SUBCELLULAR LOCATION: Secreted {ECO:0000269|PubMed:14506129, ECO:0000269|PubMed:25919322, ECO:0000269|PubMed:26905431}.


uniprotID: P0DP57
geneSymbol: SLURP2
pdb: 2N99;
sequence: MQLGTGLLLAAVLSLQLAAAEAIWCHQCTGFGGCSHGSRCLRDSTHCVTTATRVLSNTEDLPLVTKMCHIGCPDIPSLGLGPYVSIACCQTSLCNHD
length: 97
location: SUBCELLULAR LOCATION: Secreted {ECO:0000269|PubMed:16575903}.
name:
Secreted Ly-6/uPAR domain-containing protein 2 (Secreted LY6/PLAUR domain-containing protein 2) (Secreted Ly-6/uPAR-related protein 2) (SLURP-2)

opentargets:
extracellular space [GO:0005615]; acetylcholine receptor binding [GO:0033130]; acetylcholine receptor regulator activity [GO:0030548]; acetylcholine receptor signaling pathway [GO:0095500]; regulation of neurotransmitter receptor activity [GO:0099601]


uniprotID: P03973
geneSymbol: SLPI
reactome: R-HSA-6798695;
pdb: 2Z7F;4DOQ;
length: 132
go: ENSG00000124107;
name:
Antileukoproteinase (ALP) (BLPI) (HUSI-1) (Mucus proteinase inhibitor) (MPI) (Protease inhibitor WAP4) (Secretory leukocyte protease inhibitor) (Seminal proteinase inhibitor) (WAP four-disulfide core domain protein 4)

sequence:
MKSSGLFPFLVLLALGTLAPWAVEGSGKSFKAGVCPPKKSAQCLRYKKPECQSDWQCPGKKRCCPDTCGIKCLDPVDTPNPTRRKPGKCPVTYGQCLMLNPPNFCEMDGQCKRDLKCCMGMCGKSCVSPVKA

opentargets:
collagen-containing extracellular matrix [GO:0062023]; extracellular exosome [GO:0070062]; extracellular region [GO:0005576]; extracellular space [GO:0005615]; specific granule lumen [GO:0035580]; DNA binding [GO:0003677]; endopeptidase inhibitor activity [GO:0004866]; enzyme binding [GO:0019899]; mRNA binding [GO:0003729]; serine-type endopeptidase inhibitor activity [GO:0004867]; antibacterial humoral response [GO:0019731]; immune response [GO:0006955]; innate immune response [GO:0045087]; modification of morphology or physiology of other organism [GO:0035821]; negative regulation of protein binding [GO:0032091]; negative regulation of viral genome replication [GO:0045071]; neutrophil degranulation [GO:0043312]; response to lipopolysaccharide [GO:0032496]

location:
SUBCELLULAR LOCATION: Secreted {ECO:0000269|PubMed:2039600, ECO:0000269|PubMed:24352879, ECO:0000269|PubMed:3462719, ECO:0000269|PubMed:3485543}.


uniprotID: Q8IY92
geneSymbol: SLX4
reactome: R-HSA-5693568;R-HSA-6783310;
pdb: 4M7C;4UYI;4ZOU;
name: Structure-specific endonuclease subunit SLX4 (BTB/POZ domain-containing protein 12)
length: 1834
go: ENSG00000188827;
sequence:

opentargets:
cell junction [GO:0030054]; chromosome, telomeric region [GO:0000781]; cytosol [GO:0005829]; nucleoplasm [GO:0005654]; Slx1-Slx4 complex [GO:0033557]; 5'-flap endonuclease activity [GO:0017108]; endodeoxyribonuclease activity [GO:0004520]; enzyme activator activity [GO:0008047]; DNA double-strand break processing involved in repair via single-strand annealing [GO:0010792]; DNA repair [GO:0006281]; DNA replication [GO:0006260]; double-strand break repair via homologous recombination [GO:0000724]; interstrand cross-link repair [GO:0036297]; meiotic DNA double-strand break processing [GO:0000706]; negative regulation of telomere maintenance via telomere lengthening [GO:1904357]; nucleotide-excision repair [GO:0006289]; positive regulation of t-circle formation [GO:1904431]; resolution of meiotic recombination intermediates [GO:0000712]; response to intra-S DNA damage checkpoint signaling [GO:0072429]; t-circle formation [GO:0090656]; telomeric D-loop disassembly [GO:0061820]

snps:
rs141167501 rs137976282 rs147826749 rs79842542 rs138615800 rs115694169 rs113490934 rs551823420 rs74319927 rs149126845 rs371825444 rs772504776 rs77985244 rs140600202 rs149584080 rs145137472 rs117707719 rs114014006 rs863224277 rs114472821 rs138798067 rs144273492 rs714181 rs144647122 rs3827530 rs3810813 rs149011965 rs140051968 rs17136464 rs141567438 rs372321470 rs77021998 rs7196345 rs761226343 rs767720336 rs111738042 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q8IY92-1; Sequence=Displayed; Name=2; IsoId=Q8IY92-2; Sequence=VSP_035295, VSP_035296; 

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:19596235, ECO:0000269|PubMed:19596236}. Note=Localizes to sites of DNA damage.


uniprotID: Q9Y6J3
geneSymbol: SMAD5-AS1
sequence: MHKQPKLLPPPATPPPPPQSSSWSGNIVFTIKINIWLRVFSHSSPTGLPKPHSPMPSPPEPEHSVGKPANVQIPQVSSPEFCNQKSVLATEHAQT
length: 95
opentargets: signal transduction [GO:0007165]
snps: rs3764941
name:
SMAD5 antisense gene protein 1 (10.3 kDa proline-rich protein DAMS) (SMAD5 antisense RNA 1) (SMAD5 opposite strand protein)


uniprotID: O00193
geneSymbol: SMAP
name: Small acidic protein
length: 183
go: ENSG00000110696;
sequence:
MSAARESHPHGVKRSASPDDDLGSSNWEAADLGNEERKQKFLRLMGAGKKEHTGRLVIGDHKSTSHFRTGEEDKKINEELESQYQQSMDSKLSGRYRRHCGLGFSEVEDHDGEGDVAGDDDDDDDDSPDPESPDDSESDSESEKEESAEELQAAEHPDEVEDPKNKKDAKSNYKMMFVKSSGS


uniprotID: P38935
geneSymbol: IGHMBP2
pdb: 1MSZ;2LRR;4B3F;4B3G;
length: 993
go: ENSG00000132740;
name:
DNA-binding protein SMUBP-2 (EC 3.6.4.12) (EC 3.6.4.13) (ATP-dependent helicase IGHMBP2) (Glial factor 1) (GF-1) (Immunoglobulin mu-binding protein 2)

sequence:

opentargets:
axon [GO:0030424]; cytoplasm [GO:0005737]; growth cone [GO:0030426]; membrane [GO:0016020]; nucleus [GO:0005634]; ribonucleoprotein complex [GO:1990904]; ATP binding [GO:0005524]; ATP-dependent 5'-3' DNA helicase activity [GO:0043141]; ATP-dependent 5'-3' RNA helicase activity [GO:0032575]; DNA binding [GO:0003677]; DNA helicase activity [GO:0003678]; DNA-dependent ATPase activity [GO:0008094]; ribosome binding [GO:0043022]; RNA binding [GO:0003723]; RNA-dependent ATPase activity [GO:0008186]; single-stranded DNA binding [GO:0003697]; transcription factor binding [GO:0008134]; tRNA binding [GO:0000049]; zinc ion binding [GO:0008270]; DNA recombination [GO:0006310]; DNA repair [GO:0006281]; DNA replication [GO:0006260]; protein homooligomerization [GO:0051260]; translation [GO:0006412]

snps:
rs2228206 rs560096 rs724159958 rs137852666 rs10896380 rs201060167 rs137852670 rs724159959 rs776730737 rs759641927 rs571142182 rs780594709 rs137852665 rs724159960 rs7122089 rs770111639 rs137852667 rs151079750 rs201563456 rs622082 rs2236654 rs17612126 rs2275996 rs147674615 

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:19299493}. Cytoplasm {ECO:0000269|PubMed:19299493}. Cell projection, axon {ECO:0000250}. Note=Colocalizes with the translation initiation factor EIF4G2. {ECO:0000250}.


uniprotID: Q9UHJ3
geneSymbol: SFMBT1
name: Scm-like with four MBT domains protein 1 (hSFMBT) (Renal ubiquitous protein 1)
length: 866
go: ENSG00000163935;
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:17599839}.
sequence:

opentargets:
nucleoplasm [GO:0005654]; nucleus [GO:0005634]; histone binding [GO:0042393]; transcription corepressor activity [GO:0003714]; cell differentiation [GO:0030154]; chromatin organization [GO:0006325]; negative regulation of muscle organ development [GO:0048635]; negative regulation of transcription, DNA-templated [GO:0045892]; spermatogenesis [GO:0007283]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9UHJ3-1; Sequence=Displayed; Name=2; IsoId=Q9UHJ3-2; Sequence=VSP_013857; 


uniprotID: Q99717
geneSymbol: SMAD5
reactome: R-HSA-201451;
length: 465
go: ENSG00000113658;
name:
Mothers against decapentaplegic homolog 5 (MAD homolog 5) (Mothers against DPP homolog 5) (JV5-1) (SMAD family member 5) (SMAD 5) (Smad5) (hSmad5)

sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; intracellular [GO:0005622]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; protein-containing complex [GO:0032991]; SMAD protein complex [GO:0071141]; transcription factor complex [GO:0005667]; DEAD/H-box RNA helicase binding [GO:0017151]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; metal ion binding [GO:0046872]; RNA polymerase II proximal promoter sequence-specific DNA binding [GO:0000978]; transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity [GO:0030618]; ubiquitin protein ligase binding [GO:0031625]; BMP signaling pathway [GO:0030509]; bone development [GO:0060348]; cardiac muscle contraction [GO:0060048]; cartilage development [GO:0051216]; cellular response to organic cyclic compound [GO:0071407]; embryonic pattern specification [GO:0009880]; erythrocyte differentiation [GO:0030218]; germ cell development [GO:0007281]; Mullerian duct regression [GO:0001880]; negative regulation of transcription by RNA polymerase II [GO:0000122]; osteoblast fate commitment [GO:0002051]; positive regulation of osteoblast differentiation [GO:0045669]; positive regulation of transcription from RNA polymerase II promoter involved in cellular response to chemical stimulus [GO:1901522]; positive regulation of transcription, DNA-templated [GO:0045893]; protein phosphorylation [GO:0006468]; signal transduction [GO:0007165]; SMAD protein signal transduction [GO:0060395]; transforming growth factor beta receptor signaling pathway [GO:0007179]; ureteric bud development [GO:0001657]

location:
SUBCELLULAR LOCATION: Cytoplasm. Nucleus. Note=Cytoplasmic in the absence of ligand. Migrates to the nucleus when complexed with SMAD4.


uniprotID: Q8IY18
geneSymbol: SMC5
reactome: R-HSA-3108214;
name: Structural maintenance of chromosomes protein 5 (SMC protein 5) (SMC-5) (hSMC5)
length: 1101
go: ENSG00000198887;
snps: rs1180116 rs1180117 rs11142365
sequence:

opentargets:
cell junction [GO:0030054]; chromosome, telomeric region [GO:0000781]; interchromatin granule [GO:0035061]; nuclear speck [GO:0016607]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; PML body [GO:0016605]; sex chromosome [GO:0000803]; site of double-strand break [GO:0035861]; Smc5-Smc6 complex [GO:0030915]; ATP binding [GO:0005524]; cell division [GO:0051301]; cellular response to DNA damage stimulus [GO:0006974]; cellular senescence [GO:0090398]; double-strand break repair via homologous recombination [GO:0000724]; positive regulation of chromosome segregation [GO:0051984]; positive regulation of maintenance of mitotic sister chromatid cohesion [GO:0034184]; sister chromatid cohesion [GO:0007062]; telomere maintenance via recombination [GO:0000722]

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:11408570, ECO:0000269|PubMed:25931565}. Chromosome {ECO:0000250|UniProtKB:Q8CG46}. Nucleus, PML body {ECO:0000269|PubMed:17589526}. Chromosome, telomere {ECO:0000269|PubMed:17589526}. Note=Associates with chromatin (PubMed:25931565). Colocalizes with SMC6 on the X-Y chromosome pair within the sex vesicle during late pachytene/diplotene (By similarity). Localizes to PML nuclear bodies in ALT cell lines (PubMed:17589526). Accumulates with RAD18 and the SLF1-SLF2 complex at replication-coupled DNA interstrand repair and DNA double-strand breaks (DSBs) sites on chromatin in a ubiquitin-dependent manner (PubMed:25931565). {ECO:0000250|UniProtKB:Q8CG46, ECO:0000269|PubMed:25931565}.


uniprotID: P62316
geneSymbol: SNRPD2
reactome: R-HSA-191859;R-HSA-72163;R-HSA-72165;
name: Small nuclear ribonucleoprotein Sm D2 (Sm-D2) (snRNP core protein D2)
length: 118
go: ENSG00000125743;
pdb:
1B34;3CW1;3JCR;3PGW;4F7U;4PJO;4V98;4WZJ;5MQF;5O9Z;5XJC;5XJL;5XJQ;5XJR;5XJS;5XJT;5XJU;5YZG;5Z56;5Z57;5Z58;

sequence:
MSLLNKPKSEMTPEELQKREEEEFNTGPLSVLTQSVKNNTQVLINCRNNKKLLGRVKAFDRHCNMVLENVKEMWTEVPKSGKGKKKSKPVNKDRYISKMFLRGDSVIVVLRNPLIAGK

opentargets:
catalytic step 2 spliceosome [GO:0071013]; cytosol [GO:0005829]; extracellular exosome [GO:0070062]; methylosome [GO:0034709]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; pICln-Sm protein complex [GO:0034715]; small nuclear ribonucleoprotein complex [GO:0030532]; SMN-Sm protein complex [GO:0034719]; spliceosomal complex [GO:0005681]; U1 snRNP [GO:0005685]; U12-type spliceosomal complex [GO:0005689]; U2 snRNP [GO:0005686]; U2-type catalytic step 2 spliceosome [GO:0071007]; U2-type precatalytic spliceosome [GO:0071005]; U4 snRNP [GO:0005687]; U4/U6 x U5 tri-snRNP complex [GO:0046540]; U5 snRNP [GO:0005682]; RNA binding [GO:0003723]; import into nucleus [GO:0051170]; mRNA splicing, via spliceosome [GO:0000398]; RNA splicing [GO:0008380]; spliceosomal complex assembly [GO:0000245]; spliceosomal snRNP assembly [GO:0000387]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P62316-1; Sequence=Displayed; Name=2; IsoId=P62316-2; Sequence=VSP_045371; Note=No experimental confirmation available.; 

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


uniprotID: P51532
geneSymbol: SMARCA4
reactome: R-HSA-1266695;R-HSA-201722;R-HSA-3214858;R-HSA-3247509;R-HSA-8939243;
pdb: 2GRC;2H60;3UVD;5DKD;5EA1;6BGH;
length: 1647
go: ENSG00000127616;
snps: rs1804579 rs281875226 rs281875227 rs281875228 rs281875229 rs1801514 rs281875230
name:
Transcription activator BRG1 (EC 3.6.4.-) (ATP-dependent helicase SMARCA4) (BRG1-associated factor 190A) (BAF190A) (Mitotic growth and transcription activator) (Protein BRG-1) (Protein brahma homolog 1) (SNF2-beta) (SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily A member 4)

sequence:

opentargets:
extracellular space [GO:0005615]; membrane [GO:0016020]; nBAF complex [GO:0071565]; npBAF complex [GO:0071564]; nuclear chromatin [GO:0000790]; nucleolus [GO:0005730]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; protein-containing complex [GO:0032991]; SWI/SNF complex [GO:0016514]; androgen receptor binding [GO:0050681]; ATP binding [GO:0005524]; DNA polymerase binding [GO:0070182]; DNA-dependent ATPase activity [GO:0008094]; helicase activity [GO:0004386]; lysine-acetylated histone binding [GO:0070577]; p53 binding [GO:0002039]; protein N-terminus binding [GO:0047485]; RNA binding [GO:0003723]; RNA polymerase I CORE element sequence-specific DNA binding [GO:0001164]; Tat protein binding [GO:0030957]; transcription coactivator activity [GO:0003713]; transcription corepressor activity [GO:0003714]; transcription factor binding [GO:0008134]; ATP-dependent chromatin remodeling [GO:0043044]; beta-catenin-TCF complex assembly [GO:1904837]; chromatin organization [GO:0006325]; chromatin remodeling [GO:0006338]; interleukin-7-mediated signaling pathway [GO:0038111]; negative regulation of androgen receptor signaling pathway [GO:0060766]; negative regulation of cell growth [GO:0030308]; negative regulation of transcription by RNA polymerase II [GO:0000122]; negative regulation of transcription, DNA-templated [GO:0045892]; nervous system development [GO:0007399]; neural retina development [GO:0003407]; nucleosome disassembly [GO:0006337]; positive regulation by host of viral transcription [GO:0043923]; positive regulation of DNA-binding transcription factor activity [GO:0051091]; positive regulation of glucose mediated signaling pathway [GO:1902661]; positive regulation of pri-miRNA transcription by RNA polymerase II [GO:1902895]; positive regulation of transcription by RNA polymerase II [GO:0045944]; positive regulation of transcription of nucleolar large rRNA by RNA polymerase I [GO:1901838]; positive regulation of transcription, DNA-templated [GO:0045893]; positive regulation of Wnt signaling pathway [GO:0030177]; regulation of transcription by RNA polymerase II [GO:0006357]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=5;  Name=1; IsoId=P51532-1; Sequence=Displayed; Name=2; IsoId=P51532-2; Sequence=VSP_043137; Note=No experimental confirmation available.; Name=3; IsoId=P51532-3; Sequence=VSP_043137, VSP_043677, VSP_043678; Name=4; IsoId=P51532-4; Sequence=VSP_043137, VSP_043677; Name=5; IsoId=P51532-5; Sequence=VSP_043137, VSP_043678; 

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000255|PROSITE-ProRule:PRU00549, ECO:0000269|PubMed:20418909}. Note=Colocalizes with long non-coding RNA Evf2 in nuclear RNA clouds. {ECO:0000250|UniProtKB:Q3TKT4}.


uniprotID: Q9NPB0
geneSymbol: SAYSD1
name: SAYSvFN domain-containing protein 1
length: 183
go: ENSG00000112167;
sequence:
MEQRLAEFRAARKRAGLAAQPPAASQGAQTPGEKAEAAATLKAAPGWLKRFLVWKPRPASARAQPGLVQEAAQPQGSTSETPWNTAIPLPSCWDQSFLTNITFLKVLLWLVLLGLFVELEFGLAYFVLSLFYWMYVGTRGPEEKKEGEKSAYSVFNPGCEAIQGTLTAEQLERELQLRPLAGR

opentargets:
cytoplasmic vesicle membrane [GO:0030659]; integral component of membrane [GO:0016021]; intracellular membrane-bounded organelle [GO:0043231]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9NPB0-1; Sequence=Displayed; Name=2; IsoId=Q9NPB0-2; Sequence=VSP_014597, VSP_014598; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasmic vesicle membrane {ECO:0000269|PubMed:22361696}; Single-pass membrane protein {ECO:0000269|PubMed:22361696}.


uniprotID: Q96Q15
geneSymbol: SMG1
reactome: R-HSA-975957;
length: 3661
go: ENSG00000157106;
name:
Serine/threonine-protein kinase SMG1 (SMG-1) (hSMG-1) (EC 2.7.11.1) (61E3.4) (Lambda/iota protein kinase C-interacting protein) (Lambda-interacting protein)

sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; ATP binding [GO:0005524]; metal ion binding [GO:0046872]; protein kinase activity [GO:0004672]; protein serine/threonine kinase activity [GO:0004674]; RNA binding [GO:0003723]; telomeric DNA binding [GO:0042162]; DNA repair [GO:0006281]; mRNA export from nucleus [GO:0006406]; nuclear-transcribed mRNA catabolic process, nonsense-mediated decay [GO:0000184]; peptidyl-serine phosphorylation [GO:0018105]; phosphatidylinositol phosphorylation [GO:0046854]; protein autophosphorylation [GO:0046777]; regulation of response to DNA damage stimulus [GO:2001020]; regulation of telomere maintenance [GO:0032204]

snps:
rs12051350 rs752796432 rs766737607 rs750788715 rs200419100 rs376234691 rs750840136 rs17842615 rs569679854 rs919788709 rs80176913 rs555078480 rs45516593 rs563883658 rs949474935 rs17731779 rs35572280 rs56276814 rs34960798 rs35952340 rs55782217 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=Q96Q15-1; Sequence=Displayed; Name=2; IsoId=Q96Q15-2; Sequence=VSP_017748; Name=3; IsoId=Q96Q15-3; Sequence=VSP_017747; Name=4; Synonyms=BLIP; IsoId=Q96Q15-4; Sequence=VSP_017746; 

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:15175154}. Cytoplasm {ECO:0000269|PubMed:15175154}.


uniprotID: Q92540
geneSymbol: SMG7
reactome: R-HSA-975957;
pdb: 1YA0;
name: Protein SMG7 (EST1-like protein C) (SMG-7 homolog) (hSMG-7)
length: 1137
go: ENSG00000116698;
snps: rs34221194 rs2298083
sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; intermediate filament cytoskeleton [GO:0045111]; nucleus [GO:0005634]; telomerase holoenzyme complex [GO:0005697]; protein phosphatase 2A binding [GO:0051721]; ribonuclease activity [GO:0004540]; ribonucleoprotein complex binding [GO:0043021]; telomerase RNA binding [GO:0070034]; telomeric DNA binding [GO:0042162]; mRNA export from nucleus [GO:0006406]; nuclear-transcribed mRNA catabolic process, nonsense-mediated decay [GO:0000184]; regulation of dephosphorylation [GO:0035303]; regulation of RNA stability [GO:0043487]; telomere maintenance via telomerase [GO:0007004]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=Q92540-1; Sequence=Displayed; Name=2; IsoId=Q92540-2; Sequence=VSP_016574; Name=4; IsoId=Q92540-4; Sequence=VSP_016574, VSP_016575, VSP_016576; Name=5; IsoId=Q92540-5; Sequence=VSP_047130, VSP_016575; 

location:
SUBCELLULAR LOCATION: Cytoplasm. Nucleus. Note=Predominantly cytoplasmic, and nuclear. Shuttles between nucleus and cytoplasm.


uniprotID: Q9H0W8
geneSymbol: SMG9
reactome: R-HSA-975957;
name: Protein SMG9 (Protein SMG-9)
length: 520
go: ENSG00000105771;
sequence:

opentargets:
cytosol [GO:0005829]; intracellular [GO:0005622]; identical protein binding [GO:0042802]; brain development [GO:0007420]; eye development [GO:0001654]; heart development [GO:0007507]; nuclear-transcribed mRNA catabolic process, nonsense-mediated decay [GO:0000184]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9H0W8-1; Sequence=Displayed; Name=2; IsoId=Q9H0W8-2; Sequence=VSP_025946; Note=No experimental confirmation available.; 


uniprotID: Q99954
geneSymbol: SMR3A
length: 134
go: ENSG00000109208;
snps: rs10031844 rs10024123 rs6853742
location: SUBCELLULAR LOCATION: Secreted {ECO:0000305}.
name:
Submaxillary gland androgen-regulated protein 3A (Proline-rich protein 5) (Proline-rich protein PBI)

sequence:
MKSLTWILGLWALAACFTPGESQRGPRGPYPPGPLAPPPPPCFPFGTGFVPPPHPPPYGPGRFPPPLSPPYGPGRIPPSPPPPYGPGRIQSHSLPPPYGPGYPQPPSQPRPYPPGPPFFPVNSPTDPALPTPAP

opentargets:
extracellular region [GO:0005576]; endopeptidase inhibitor activity [GO:0004866]; regulation of sensory perception of pain [GO:0051930]


uniprotID: Q92922
geneSymbol: SMARCC1
reactome: R-HSA-3214858;R-HSA-8939243;
pdb: 2YUS;5GJK;
length: 1105
go: ENSG00000173473;
snps: rs3772406
name:
SWI/SNF complex subunit SMARCC1 (BRG1-associated factor 155) (BAF155) (SWI/SNF complex 155 kDa subunit) (SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily C member 1)

sequence:

opentargets:
cytoplasm [GO:0005737]; nBAF complex [GO:0071565]; npBAF complex [GO:0071564]; nuclear chromatin [GO:0000790]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; protein-containing complex [GO:0032991]; SWI/SNF complex [GO:0016514]; XY body [GO:0001741]; chromatin binding [GO:0003682]; DNA binding [GO:0003677]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; protein N-terminus binding [GO:0047485]; transcription coactivator activity [GO:0003713]; animal organ morphogenesis [GO:0009887]; ATP-dependent chromatin remodeling [GO:0043044]; chromatin remodeling [GO:0006338]; insulin receptor signaling pathway [GO:0008286]; negative regulation of proteasomal ubiquitin-dependent protein catabolic process [GO:0032435]; nervous system development [GO:0007399]; nucleosome disassembly [GO:0006337]; positive regulation of transcription by RNA polymerase II [GO:0045944]; positive regulation of transcription, DNA-templated [GO:0045893]; prostate gland development [GO:0030850]; regulation of transcription by RNA polymerase II [GO:0006357]

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:28753627}. Cytoplasm {ECO:0000269|PubMed:28753627}.


uniprotID: Q8NB59
geneSymbol: SYT14
name: Synaptotagmin-14 (Synaptotagmin XIV) (SytXIV)
length: 555
go: ENSG00000143469;
opentargets: integral component of membrane [GO:0016021]
snps: rs759296305 rs387907033
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=7;  Name=1; IsoId=Q8NB59-1; Sequence=Displayed; Name=2; IsoId=Q8NB59-2; Sequence=VSP_011605, VSP_011606; Name=3; IsoId=Q8NB59-3; Sequence=VSP_011602; Name=4; IsoId=Q8NB59-4; Sequence=VSP_011602, VSP_011603, VSP_011604; Name=5; IsoId=Q8NB59-5; Sequence=VSP_011607; Name=6; IsoId=Q8NB59-6; Sequence=VSP_011608; Name=7; IsoId=Q8NB59-7; Sequence=VSP_046124, VSP_011608; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Membrane {ECO:0000269|PubMed:21835308}; Single-pass type III membrane protein {ECO:0000269|PubMed:21835308}. Note=Localized in perinuclear and submembranous regions.


uniprotID: P53814
geneSymbol: SMTN
pdb: 2D87;
name: Smoothelin
length: 917
go: ENSG00000183963;
snps: rs1064178 rs3205187 rs5997872 rs12158015 rs777851029 rs34292278
location: SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton. Note=Exhibits a filamentous organization.
sequence:

opentargets:
actin cytoskeleton [GO:0015629]; cytoplasm [GO:0005737]; cytoskeleton [GO:0005856]; filamentous actin [GO:0031941]; microtubule organizing center [GO:0005815]; actin binding [GO:0003779]; structural constituent of muscle [GO:0008307]; actin cytoskeleton organization [GO:0030036]; muscle organ development [GO:0007517]; smooth muscle contraction [GO:0006939]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative promoter usage, Alternative splicing; Named isoforms=4;  Comment=Additional isoforms seem to exist.; Name=B; Synonyms=Long, B1, L1; IsoId=P53814-1; Sequence=Displayed; Name=A; Synonyms=Short; IsoId=P53814-2; Sequence=VSP_004398; Note=Produced by alternative promoter usage.; Name=B2; Synonyms=L2; IsoId=P53814-5; Sequence=VSP_007020; Name=B3; IsoId=P53814-6; Sequence=VSP_031242; 


uniprotID: Q8TAD8
geneSymbol: SNIP1
pdb: 5Z56;5Z57;5Z58;
name: Smad nuclear-interacting protein 1 (FHA domain-containing protein SNIP1)
length: 396
go: ENSG00000163877;
snps: rs387906986
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:10887155}.
sequence:

opentargets:
cytosol [GO:0005829]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; mRNA binding [GO:0003729]; RNA binding [GO:0003723]; I-kappaB kinase/NF-kappaB signaling [GO:0007249]; production of miRNAs involved in gene silencing by miRNA [GO:0035196]; regulation of transcription, DNA-templated [GO:0006355]


uniprotID: Q9HBX3
geneSymbol: SND1-IT1
length: 110
snps: rs17151639
name:
Uncharacterized protein encoded by SND1-IT1 (Brain and nasopharyngeal carcinoma susceptibility protein NSG-x) (Nasopharyngeal carcinoma-associated gene 8 protein) (SND1 intronic transcript 1)

sequence:
MSHHPHSLRNSCLIRMDLLYWQFTIYTITFCFSHLSGRLTLSAQHISHRPCLLSYSLLFWKVHHLFLEGFPCSPRLDEMSFHQFPQHPVHVSVVHLPIVYKGSMTQVSPH


uniprotID: Q9HCE7
geneSymbol: SMURF1
pdb: 2LAZ;2LB0;2LB1;2LTX;3PYC;
length: 757
go: ENSG00000198742;
snps: rs13246077
reactome:
R-HSA-201451;R-HSA-2173788;R-HSA-2173791;R-HSA-4608870;R-HSA-5632684;R-HSA-8939902;R-HSA-8941858;R-HSA-983168;

name:
E3 ubiquitin-protein ligase SMURF1 (hSMURF1) (EC 2.3.2.26) (HECT-type E3 ubiquitin transferase SMURF1) (SMAD ubiquitination regulatory factor 1) (SMAD-specific E3 ubiquitin-protein ligase 1)

sequence:

opentargets:
axon [GO:0030424]; cytoplasm [GO:0005737]; cytosol [GO:0005829]; extracellular exosome [GO:0070062]; neuronal cell body [GO:0043025]; nucleoplasm [GO:0005654]; plasma membrane [GO:0005886]; activin binding [GO:0048185]; I-SMAD binding [GO:0070411]; phospholipid binding [GO:0005543]; R-SMAD binding [GO:0070412]; ubiquitin protein ligase activity [GO:0061630]; ubiquitin-protein transferase activity [GO:0004842]; BMP signaling pathway [GO:0030509]; cell differentiation [GO:0030154]; ectoderm development [GO:0007398]; engulfment of target by autophagosome [GO:0061736]; negative regulation of BMP signaling pathway [GO:0030514]; negative regulation of ossification [GO:0030279]; negative regulation of transforming growth factor beta receptor signaling pathway [GO:0030512]; parkin-mediated stimulation of mitophagy in response to mitochondrial depolarization [GO:0061734]; positive regulation of dendrite extension [GO:1903861]; positive regulation of protein catabolic process [GO:0045732]; positive regulation of ubiquitin-dependent protein catabolic process [GO:2000060]; proteasome-mediated ubiquitin-dependent protein catabolic process [GO:0043161]; protein export from nucleus [GO:0006611]; protein localization to cell surface [GO:0034394]; protein localization to plasma membrane [GO:0072659]; protein polyubiquitination [GO:0000209]; protein targeting to vacuole involved in autophagy [GO:0071211]; protein ubiquitination [GO:0016567]; receptor catabolic process [GO:0032801]; substrate localization to autophagosome [GO:0061753]; transforming growth factor beta receptor signaling pathway [GO:0007179]; ubiquitin-dependent protein catabolic process [GO:0006511]; ubiquitin-dependent SMAD protein catabolic process [GO:0030579]; Wnt signaling pathway, planar cell polarity pathway [GO:0060071]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=Long; IsoId=Q9HCE7-1; Sequence=Displayed; Name=Short; IsoId=Q9HCE7-2; Sequence=VSP_006812; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:21572392}. Cell membrane {ECO:0000269|PubMed:21572392}; Peripheral membrane protein {ECO:0000269|PubMed:21572392}; Cytoplasmic side {ECO:0000269|PubMed:21572392}.


uniprotID: O43760
geneSymbol: SYNGR2
name: Synaptogyrin-2 (Cellugyrin)
length: 224
go: ENSG00000108639;
sequence:

opentargets:
cell junction [GO:0030054]; extracellular exosome [GO:0070062]; integral component of membrane [GO:0016021]; lipid droplet [GO:0005811]; synaptic vesicle membrane [GO:0030672]; regulated exocytosis [GO:0045055]; synaptic vesicle membrane organization [GO:0048499]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=O43760-1; Sequence=Displayed; Name=2; IsoId=O43760-2; Sequence=VSP_056179; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasmic vesicle membrane {ECO:0000250|UniProtKB:O54980}; Multi-pass membrane protein {ECO:0000255}. Cytoplasmic vesicle, secretory vesicle, synaptic vesicle membrane {ECO:0000250|UniProtKB:O54980}; Multi-pass membrane protein {ECO:0000255}. Note=Localizes to cytoplasmic vesicles associated with the recycling endosomes. {ECO:0000250|UniProtKB:O54980}.; SUBCELLULAR LOCATION: Lipid droplet. Note=(Microbial infection) Upon SFTS phlebovirus infection, the protein localizes in lipid droplets and inclusion bodies. {ECO:0000269|PubMed:27226560}.


uniprotID: Q6UX34
geneSymbol: SNORC
length: 121
go: ENSG00000182600;
name:
Protein SNORC (Secondary ossification center-associated regulator of chondrocyte maturation protein)

sequence:
MASCLALRMALLLVSGVLAPAVLTDDVPQEPVPTLWNEPAELPSGEGPVESTSPGREPVDTGPPAPTVAPGPEDSTAQERLDQGGGSLGPGAIAAIVIAALLATCVVLALVVVALRKFSAS

opentargets:
cell periphery [GO:0071944]; collagen-containing extracellular matrix [GO:0062023]; cytoplasm [GO:0005737]; integral component of membrane [GO:0016021]; cartilage development [GO:0051216]

location:
SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Single-pass membrane protein {ECO:0000305}. Cytoplasm {ECO:0000250|UniProtKB:Q9CXL7}. Secreted, extracellular space, extracellular matrix {ECO:0000250|UniProtKB:Q9CXL7}. Note=Appears as reticular-like structures throughout the cytoplasm and adjacent to the plasma membrane. In proliferation and hypertrophic chondrocytes, detected intracellulary and in the pericellular extracellular matrix. In primary spongiosa, detected only in the extracellular matrix. {ECO:0000250|UniProtKB:Q9CXL7}.


uniprotID: Q02446
geneSymbol: SP4
name: Transcription factor Sp4 (SPR-1)
length: 784
go: ENSG00000105866;
snps: rs1042848
location: SUBCELLULAR LOCATION: Nucleus.
sequence:

opentargets:
cytosol [GO:0005829]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; metal ion binding [GO:0046872]; sequence-specific DNA binding [GO:0043565]; transcription coactivator activity [GO:0003713]; regulation of transcription by RNA polymerase II [GO:0006357]


uniprotID: Q3ZLR7
geneSymbol: SUPT20HL1
name: Transcription factor SPT20 homolog-like 1
length: 823
sequence:

opentargets:
SAGA complex [GO:0000124]; transcription coregulator activity [GO:0003712]; positive regulation of gluconeogenesis by positive regulation of transcription from RNA polymerase II promoter [GO:0035948]; regulation of transcription by RNA polymerase II [GO:0006357]


uniprotID: P0C7V6
geneSymbol: SUPT20HL2
name: Putative transcription factor SPT20 homolog-like 2
length: 817
sequence:

opentargets:
extracellular space [GO:0005615]; SAGA complex [GO:0000124]; transcription coregulator activity [GO:0003712]; positive regulation of gluconeogenesis by positive regulation of transcription from RNA polymerase II promoter [GO:0035948]; regulation of transcription by RNA polymerase II [GO:0006357]


uniprotID: Q8NEM7
geneSymbol: SUPT20H
reactome: R-HSA-3214847;
name: Transcription factor SPT20 homolog (p38-interacting protein) (p38IP)
length: 779
go: ENSG00000102710;
snps: rs7324275 rs9469
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:19893488}.
sequence:

opentargets:
fibrillar center [GO:0001650]; SAGA complex [GO:0000124]; SAGA-type complex [GO:0070461]; transcription coregulator activity [GO:0003712]; autophagy [GO:0006914]; gastrulation [GO:0007369]; positive regulation of gluconeogenesis by positive regulation of transcription from RNA polymerase II promoter [GO:0035948]; regulation of transcription by RNA polymerase II [GO:0006357]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q8NEM7-1; Sequence=Displayed; Name=2; IsoId=Q8NEM7-2; Sequence=VSP_014877, VSP_014878, VSP_014879; Name=3; IsoId=Q8NEM7-3; Sequence=VSP_055621, VSP_014878, VSP_014879; Note=No experimental confirmation available.; 


uniprotID: Q02447
geneSymbol: SP3
reactome: R-HSA-3232118;
name: Transcription factor Sp3 (SPR-2)
length: 781
go: ENSG00000172845;
snps: rs1047640
sequence:

opentargets:
nucleoplasm [GO:0005654]; nucleus [GO:0005634]; PML body [GO:0016605]; protein-DNA complex [GO:0032993]; transcriptional repressor complex [GO:0017053]; chromatin binding [GO:0003682]; 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]; proximal promoter sequence-specific DNA binding [GO:0000987]; RNA polymerase II proximal promoter sequence-specific DNA binding [GO:0000978]; RNA polymerase II regulatory region sequence-specific DNA binding [GO:0000977]; B cell differentiation [GO:0030183]; definitive hemopoiesis [GO:0060216]; embryonic camera-type eye morphogenesis [GO:0048596]; embryonic placenta development [GO:0001892]; embryonic process involved in female pregnancy [GO:0060136]; embryonic skeletal system development [GO:0048706]; enucleate erythrocyte differentiation [GO:0043353]; granulocyte differentiation [GO:0030851]; liver development [GO:0001889]; lung development [GO:0030324]; megakaryocyte differentiation [GO:0030219]; monocyte differentiation [GO:0030224]; natural killer cell differentiation [GO:0001779]; negative regulation of transcription, DNA-templated [GO:0045892]; ossification [GO:0001503]; positive regulation of transcription by RNA polymerase II [GO:0045944]; positive regulation of transcription, DNA-templated [GO:0045893]; regulation of transcription by RNA polymerase II [GO:0006357]; regulation of transcription, DNA-templated [GO:0006355]; T cell differentiation [GO:0030217]; trophectodermal cell differentiation [GO:0001829]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing, Alternative initiation; Named isoforms=6;  Name=1; Synonyms=Large, L-Sp3; IsoId=Q02447-1; Sequence=Displayed; Name=2; IsoId=Q02447-2; Sequence=VSP_026701; Note=Produced by alternative initiation at Met-13 of isoform 1. No experimental confirmation available.; Name=3; Synonyms=M1-Sp3; IsoId=Q02447-3; Sequence=VSP_026699; Note=Produced by alternative initiation at Met-286 of isoform 1. No experimental confirmation available.; Name=4; Synonyms=M2-Sp3; IsoId=Q02447-4; Sequence=VSP_026698; Note=Produced by alternative initiation at Met-303 of isoform 1. No experimental confirmation available.; Name=5; IsoId=Q02447-5; Sequence=VSP_026700; Note=Produced by alternative splicing. An AUA codon is translated into Met and used as a translation initiation site (in vitro).; Name=6; IsoId=Q02447-6; Sequence=VSP_026701, VSP_026702; Note=Produced by alternative splicing.; 

location:
SUBCELLULAR LOCATION: Nucleus. Nucleus, PML body. Note=Localizes to the nuclear periphery and in nuclear dots when sumoylated. Some localization in PML nuclear bodies.


uniprotID: Q9Y5J6
geneSymbol: TIMM10B
reactome: R-HSA-1268020;
length: 103
go: ENSG00000132286;
snps: rs60702727 rs17850713
name:
Mitochondrial import inner membrane translocase subunit Tim10 B (Fracture callus protein 1) (FxC1) (Mitochondrial import inner membrane translocase subunit Tim9 B) (TIMM10B) (Tim10b)

sequence:
MERQQQQQQQLRNLRDFLLVYNRMTELCFQRCVPSLHHRALDAEEEACLHSCAGKLIHSNHRLMAAYVQLMPALVQRRIADYEAASAVPGVAAEQPGVSPSGS

opentargets:
mitochondrial inner membrane [GO:0005743]; mitochondrial intermembrane space [GO:0005758]; mitochondrial intermembrane space protein transporter complex [GO:0042719]; TIM22 mitochondrial import inner membrane insertion complex [GO:0042721]; metal ion binding [GO:0046872]; cell-matrix adhesion [GO:0007160]; protein targeting to mitochondrion [GO:0006626]

location:
SUBCELLULAR LOCATION: Mitochondrion inner membrane {ECO:0000269|PubMed:11489896, ECO:0000269|PubMed:14726512}; Peripheral membrane protein {ECO:0000269|PubMed:11489896, ECO:0000269|PubMed:14726512}.


uniprotID: Q8TDD2
geneSymbol: SP7
reactome: R-HSA-8940973;
name: Transcription factor Sp7 (Zinc finger protein osterix)
length: 431
go: ENSG00000170374;
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000250|UniProtKB:Q8VI67}.
sequence:

opentargets:
cytoplasm [GO:0005737]; nucleus [GO:0005634]; DEAD/H-box RNA helicase binding [GO:0017151]; DNA binding [GO:0003677]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; metal ion binding [GO:0046872]; proximal promoter DNA-binding transcription activator activity, RNA polymerase II-specific [GO:0001077]; RNA polymerase II proximal promoter sequence-specific DNA binding [GO:0000978]; hematopoietic stem cell differentiation [GO:0060218]; osteoblast differentiation [GO:0001649]; positive regulation of stem cell differentiation [GO:2000738]; positive regulation of transcription by RNA polymerase II [GO:0045944]; regulation of transcription by RNA polymerase II [GO:0006357]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; Synonyms=alpha, long; IsoId=Q8TDD2-1; Sequence=Displayed; Name=2; Synonyms=beta, short; IsoId=Q8TDD2-2; Sequence=VSP_047639; Note=Generally expressed at much higher level than isoform 1.; 


uniprotID: Q96KW9
geneSymbol: SPACA7
name: Sperm acrosome-associated protein 7
length: 195
go: ENSG00000153498;
snps: rs376712879 rs10816
sequence:
MAVSQGDGTLCFVLLLCCWQETELRPRTVIPGSPTEIPFSSKQEDMSELLDEILVQEILDLNKTTPSEMPSTASTLSTPLHAGIDENYQAGGSENYHELLENLQFSPGIEVKISNDEANANANLHGDPSENYRGPQVSPGSEKSVSSKEKNSKNTQYENLSILDQILQNIGRSSGNIFHKEQQRTSAQRRSQGSQ

opentargets:
acrosomal lumen [GO:0043160]; acrosomal vesicle [GO:0001669]; extracellular region [GO:0005576]; single fertilization [GO:0007338]

location:
SUBCELLULAR LOCATION: Secreted {ECO:0000250|UniProtKB:Q9D2S4}. Cytoplasmic vesicle, secretory vesicle, acrosome {ECO:0000269|PubMed:22495889}. Cytoplasmic vesicle, secretory vesicle, acrosome lumen {ECO:0000250|UniProtKB:Q9D2S4}. Note=Localized in perinuclear pro-acrosomal granules in round spermatides. Localized between the inner and outer acrosomal membranes (matrix or lumen) in spermatozoa. Secreted during acrosome exocytosis. {ECO:0000250|UniProtKB:Q9D2S4}.


uniprotID: Q9BXJ8
geneSymbol: TMEM120A
name: Transmembrane protein 120A (Transmembrane protein induced by tumor necrosis factor alpha)
length: 343
go: ENSG00000189077;
snps: rs17852664 rs17855697
sequence:

opentargets:
integral component of membrane [GO:0016021]; nuclear inner membrane [GO:0005637]; fat cell differentiation [GO:0045444]; protein heterooligomerization [GO:0051291]; protein homooligomerization [GO:0051260]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9BXJ8-1; Sequence=Displayed; Name=2; IsoId=Q9BXJ8-2; Sequence=VSP_029148; 

location:
SUBCELLULAR LOCATION: Nucleus inner membrane {ECO:0000250|UniProtKB:Q8C1E7}; Multi-pass membrane protein {ECO:0000255}.


uniprotID: O75602
geneSymbol: SPAG6
name: Sperm-associated antigen 6 (Protein PF16 homolog) (Repro-SA-1) (Sperm flagellar protein)
length: 509
go: ENSG00000077327;
snps: rs7074847
sequence:

opentargets:
axoneme [GO:0005930]; microtubule [GO:0005874]; microtubule cytoskeleton [GO:0015630]; motile cilium [GO:0031514]; nucleus [GO:0005634]; cell projection organization [GO:0030030]; spermatid development [GO:0007286]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=5;  Name=1; IsoId=O75602-1; Sequence=Displayed; Name=2; IsoId=O75602-2; Sequence=VSP_013444, VSP_013445; Name=3; IsoId=O75602-3; Sequence=VSP_013442; Note=Derived from EST data. No experimental confirmation available.; Name=4; IsoId=O75602-4; Sequence=VSP_013443; Note=Derived from EST data. No experimental confirmation available.; Name=5; IsoId=O75602-5; Sequence=VSP_045337; 

location:
SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton {ECO:0000269|PubMed:10493827}. Cell projection, cilium, flagellum {ECO:0000269|PubMed:10493827}. Note=Associated with microtubules. Detected on the sperm flagellum.


uniprotID: Q6RVD6
geneSymbol: SPATA8
name: Spermatogenesis-associated protein 8 (Spermatogenesis-related protein 8)
length: 105
go: ENSG00000185594;
sequence:
MAPAGMSGAQDNSCLYQEIAPSFQRLPCPRTSSRHFSEAMTCPCGWRPFKGGPGGLKGPVWPAKEENSCSHGRIQRVQRRRVPSASPLIQKINRRSVLFHPYCWS

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q6RVD6-1; Sequence=Displayed; Name=2; IsoId=Q6RVD6-2; Sequence=VSP_023281; Note=No experimental confirmation available.; 


uniprotID: Q99932
geneSymbol: SPAG8
length: 426
go: ENSG00000137098;
snps: rs13299596 rs17851728
name:
Sperm-associated antigen 8 (HSD-1) (Sperm membrane protein 1) (SMP-1) (Sperm membrane protein BS-84)

sequence:

opentargets:
acrosomal vesicle [GO:0001669]; cytoplasm [GO:0005737]; membrane [GO:0016020]; nucleus [GO:0005634]; spindle [GO:0005819]; microtubule binding [GO:0008017]; cell cycle [GO:0007049]; cell differentiation [GO:0030154]; positive regulation of transcription by RNA polymerase II [GO:0045944]; single fertilization [GO:0007338]; spermatogenesis [GO:0007283]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q99932-1; Sequence=Displayed; Name=2; IsoId=Q99932-2; Sequence=VSP_013274; Note=No experimental confirmation available.; Name=3; IsoId=Q99932-3; Sequence=VSP_046325; Note=No experimental confirmation available. {ECO:0000305}; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250|UniProtKB:Q3V0Q6}. Nucleus {ECO:0000250|UniProtKB:Q3V0Q6}. Cytoplasmic vesicle, secretory vesicle, acrosome {ECO:0000269|PubMed:15014887, ECO:0000269|PubMed:17187156, ECO:0000269|PubMed:8788182}. Cytoplasm, cytoskeleton, microtubule organizing center {ECO:0000269|PubMed:19548270}. Cytoplasm, cytoskeleton, spindle {ECO:0000269|PubMed:19548270}. Note=In mature sperm cells, detected in the acrosomal region of the head and in the middle piece of the tail (By similarity). Localized to the nucleus and cytoplasm of spermatocytes and round spermatids while, in elongating spermatids, expressed in the cytoplasm but not in the nucleus (By similarity). During the cell cycle, localized on the microtubule-organizing center (MTOC) during prophase. In metaphase, extends along spindle microtubules. In anaphase, detected on the astral microtubules and mid-zone. In telophase, remains at the mid-zone. After cytokinesis, returns to the MTOC (PubMed:19548270). {ECO:0000250|UniProtKB:Q3V0Q6, ECO:0000269|PubMed:19548270}.


uniprotID: Q9H9C1
geneSymbol: VIPAS39
length: 493
go: ENSG00000151445;
name:
Spermatogenesis-defective protein 39 homolog (hSPE-39) (VPS33B-interacting protein in apical-basolateral polarity regulator) (VPS33B-interacting protein in polarity and apical restriction)

sequence:

opentargets:
cytoplasm [GO:0005737]; early endosome [GO:0005769]; Golgi apparatus [GO:0005794]; late endosome [GO:0005770]; recycling endosome [GO:0055037]; protein-containing complex binding [GO:0044877]; cell differentiation [GO:0030154]; collagen fibril organization [GO:0030199]; collagen metabolic process [GO:0032963]; endosome to lysosome transport [GO:0008333]; intracellular protein transport [GO:0006886]; peptidyl-lysine hydroxylation [GO:0017185]; post-translational protein modification [GO:0043687]; spermatogenesis [GO:0007283]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9H9C1-1; Sequence=Displayed; Name=2; IsoId=Q9H9C1-2; Sequence=VSP_043055; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250}. Cytoplasmic vesicle {ECO:0000250}. Early endosome {ECO:0000269|PubMed:19109425}. Recycling endosome {ECO:0000269|PubMed:19109425, ECO:0000269|PubMed:22753090}. Late endosome {ECO:0000269|PubMed:19109425}. Note=Colocalizes in clusters with VPS33B at cytoplasmic organelles (PubMed:19109425).


uniprotID: P48594
geneSymbol: SERPINB4
name: Serpin B4 (Leupin) (Peptidase inhibitor 11) (PI-11) (Squamous cell carcinoma antigen 2) (SCCA-2)
length: 390
go: ENSG00000206073;
sequence:

opentargets:
cytoplasm [GO:0005737]; extracellular space [GO:0005615]; intracellular [GO:0005622]; enzyme binding [GO:0019899]; protease binding [GO:0002020]; serine-type endopeptidase inhibitor activity [GO:0004867]; negative regulation of endopeptidase activity [GO:0010951]; negative regulation of peptidase activity [GO:0010466]; protection from natural killer cell mediated cytotoxicity [GO:0042270]; regulation of proteolysis [GO:0030162]

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:10956412}. Note=Seems to also be secreted in plasma by cancerous cells but at a low level.


uniprotID: Q8N3T6
geneSymbol: TMEM132C
name: Transmembrane protein 132C
length: 1108
go: ENSG00000181234;
opentargets: integral component of membrane [GO:0016021]
snps: rs11059681 rs12307622 rs1683723 rs4272850 rs12426596 rs12301587 rs12424159
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Single-pass type I membrane protein {ECO:0000305}.
sequence:


uniprotID: A6NC51
geneSymbol: TMEM150B
length: 233
go: ENSG00000180061;
snps: rs7246479
name:
Modulator of macroautophagy TMEM150B (Protein DRAM-3) (Transmembrane protein 150B) (Transmembrane protein 224)

sequence:

opentargets:
autophagosome membrane [GO:0000421]; endosome membrane [GO:0010008]; integral component of plasma membrane [GO:0005887]; lysosome [GO:0005764]; autophagy [GO:0006914]; regulation of autophagy [GO:0010506]

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:25608530, ECO:0000269|PubMed:25929859}; Multi-pass membrane protein {ECO:0000269|PubMed:25608530}. Endosome membrane {ECO:0000269|PubMed:25929859}; Multi-pass membrane protein {ECO:0000255}. Cytoplasmic vesicle, autophagosome membrane {ECO:0000269|PubMed:25929859}; Multi-pass membrane protein {ECO:0000255}. Note=Localizes mainly at the plasma membrane where it concentrates at actin-rich focal adhesions (PubMed:25608530, PubMed:25929859). {ECO:0000269|PubMed:25608530, ECO:0000269|PubMed:25929859}.


uniprotID: Q8N4L1
geneSymbol: TMEM151A
name: Transmembrane protein 151A
length: 468
go: ENSG00000179292;
opentargets: integral component of membrane [GO:0016021]
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Multi-pass membrane protein {ECO:0000305}.
sequence:


uniprotID: A6NHP3
geneSymbol: SPDYE2B
name: Speedy protein E2B
length: 402
go: ENSG00000205238;
opentargets: protein kinase binding [GO:0019901]
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=A6NHP3-1; Sequence=Displayed; Note=No experimental confirmation available.; Name=2; IsoId=A6NHP3-2; Sequence=VSP_039852; Note=No experimental confirmation available.; 


uniprotID: Q8NDZ6
geneSymbol: TMEM161B
name: Transmembrane protein 161B
length: 487
go: ENSG00000164180;
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=3;  Name=1; IsoId=Q8NDZ6-1; Sequence=Displayed; Name=2; IsoId=Q8NDZ6-2; Sequence=VSP_025649, VSP_025650; Name=3; IsoId=Q8NDZ6-3; Sequence=VSP_025647, VSP_025648; Note=No experimental confirmation available.; 


uniprotID: Q86W54
geneSymbol: SPATA24
name: Spermatogenesis-associated protein 24 (Testis protein T6441 homolog)
length: 205
go: ENSG00000170469;
sequence:

opentargets:
cytosol [GO:0005829]; nucleolus [GO:0005730]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; DNA binding [GO:0003677]; protein homodimerization activity [GO:0042803]; cell differentiation [GO:0030154]; multicellular organism development [GO:0007275]; spermatogenesis [GO:0007283]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q86W54-1; Sequence=Displayed; Name=2; IsoId=Q86W54-2; Sequence=VSP_032867; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:19515240}. Nucleus, nucleolus {ECO:0000269|PubMed:19515240}. Nucleus, nucleoplasm {ECO:0000269|PubMed:19515240}. Note=Associated with chromatin. {ECO:0000250}.


uniprotID: Q8TEC5
geneSymbol: SH3RF2
length: 729
go: ENSG00000156463;
snps: rs34739859 rs34942619 rs758037 rs35165046 rs2962525 rs11435 rs1056149
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:24130170}.
name:
E3 ubiquitin-protein ligase SH3RF2 (EC 2.3.2.27) (Heart protein phosphatase 1-binding protein) (HEPP1) (POSH-eliminating RING protein) (Protein phosphatase 1 regulatory subunit 39) (RING finger protein 158) (RING-type E3 ubiquitin transferase SH3RF2) (SH3 domain-containing RING finger protein 2)

sequence:

opentargets:
nucleoplasm [GO:0005654]; nucleus [GO:0005634]; metal ion binding [GO:0046872]; phosphatase binding [GO:0019902]; protein phosphatase 1 binding [GO:0008157]; protein phosphatase inhibitor activity [GO:0004864]; ubiquitin protein ligase activity [GO:0061630]; negative regulation of apoptotic process [GO:0043066]; negative regulation of JNK cascade [GO:0046329]; negative regulation of phosphatase activity [GO:0010923]; negative regulation of protein ubiquitination [GO:0031397]; positive regulation of cell migration [GO:0030335]; positive regulation of JNK cascade [GO:0046330]; positive regulation of proteasomal ubiquitin-dependent protein catabolic process [GO:0032436]; protein autoubiquitination [GO:0051865]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q8TEC5-1; Sequence=Displayed; Name=2; IsoId=Q8TEC5-2; Sequence=VSP_022058, VSP_022059; Name=3; IsoId=Q8TEC5-3; Sequence=VSP_040662; 


uniprotID: P55822
geneSymbol: SH3BGR
length: 239
go: ENSG00000185437;
snps: rs11575939 rs6517549 rs9974333
name:
SH3 domain-binding glutamic acid-rich protein (SH3BGR protein) (21-glutamic acid-rich protein) (21-GARP)

sequence:

opentargets:
cytosol [GO:0005829]; SH3 domain binding [GO:0017124]; SH3/SH2 adaptor activity [GO:0005070]; protein-containing complex assembly [GO:0065003]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P55822-1; Sequence=Displayed; Name=2; IsoId=P55822-2; Sequence=VSP_045788; Note=No experimental confirmation available.; 


uniprotID: Q562F6
geneSymbol: SGO2
reactome: R-HSA-141444;R-HSA-2467813;R-HSA-2500257;R-HSA-5663220;R-HSA-68877;
name: Shugoshin 2 (Shugoshin-2) (Shugoshin-like 2) (Tripin)
length: 1265
go: ENSG00000163535;
snps: rs1036533 rs13417812 rs17448235 rs17532665 rs11896759 rs16833776
sequence:

opentargets:
chromosome, centromeric region [GO:0000775]; condensed chromosome kinetochore [GO:0000777]; cytosol [GO:0005829]; mitotic cohesin complex [GO:0030892]; nuclear body [GO:0016604]; nucleoplasm [GO:0005654]; cell division [GO:0051301]; meiotic sister chromatid cohesion, centromeric [GO:0051754]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q562F6-1; Sequence=Displayed; Name=2; IsoId=Q562F6-2; Sequence=VSP_016800; Note=No experimental confirmation available.; Name=3; IsoId=Q562F6-3; Sequence=VSP_016798, VSP_016799; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000305|PubMed:17485487}. Chromosome, centromere {ECO:0000269|PubMed:17485487}. Chromosome, centromere, kinetochore {ECO:0000250|UniProtKB:Q7TSY8}. Note=During meiosis I, accumulates at centromeres during diplotene, and colocalizes differentially with the cohesin subunits RAD21 and REC8 at metaphase I centromeres (By similarity). SGO2 and RAD21 change their relative distributions during telophase I when sister-kinetochore association is lost (By similarity). During meiosis II, it shows a striking tension-dependent redistribution within centromeres throughout chromosome congression during prometaphase II, as it does during mitosis (By similarity). In Hela cells, localizes at centromeres throughout prophase until metaphase and disappears at anaphase (PubMed:17485487). Centromeric localization requires the presence of BUB1 and AUKRB (PubMed:17485487). {ECO:0000250|UniProtKB:Q7TSY8, ECO:0000269|PubMed:17485487}.


uniprotID: Q8NEM2
geneSymbol: SHCBP1
name: SHC SH2 domain-binding protein 1
length: 672
go: ENSG00000171241;
snps: rs6598679 rs11545690
sequence:

opentargets:
cytoplasm [GO:0005737]; midbody [GO:0030496]; spindle [GO:0005819]; SH2 domain binding [GO:0042169]; fibroblast growth factor receptor signaling pathway [GO:0008543]; regulation of neural precursor cell proliferation [GO:2000177]

location:
SUBCELLULAR LOCATION: Midbody {ECO:0000269|PubMed:21187330}. Cytoplasm, cytoskeleton, spindle {ECO:0000269|PubMed:21187330}. Note=Displays weak localization to the spindle midzone in some early telophase cells and is concentrated at the midbody in late cytokinesis. {ECO:0000269|PubMed:21187330}.


uniprotID: A6NKW6
geneSymbol: SHISAL2B
name: Protein shisa-like-2B
length: 160
go: ENSG00000145642;
opentargets: integral component of membrane [GO:0016021]
snps: rs16893053 rs2305962
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Single-pass membrane protein {ECO:0000305}.
sequence:
MSEASRLCSGYYSLNQSFVEPFQCPRRGEGAALQYCCGFADLKYCCSEPGSYFPYKHSYMWSLSIGALIGLGIAALVLLAFVISVCVLCYLFLYTKPQRLDTGLKLQHLEASSTQEGKSNGKTKALNSNAASNATNETYYEADDIIQEKTMDATQIHIAY


uniprotID: Q9BRG2
geneSymbol: SH2D3A
name: SH2 domain-containing protein 3A (Novel SH2-containing protein 1)
length: 576
go: ENSG00000125731;
snps: rs7258236 rs12608960
sequence:

opentargets:
intracellular [GO:0005622]; guanyl-nucleotide exchange factor activity [GO:0005085]; SH3/SH2 adaptor activity [GO:0005070]; JNK cascade [GO:0007254]; positive regulation of peptidyl-serine phosphorylation [GO:0033138]; small GTPase mediated signal transduction [GO:0007264]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9BRG2-1; Sequence=Displayed; Name=2; IsoId=Q9BRG2-2; Sequence=VSP_056268, VSP_056269, VSP_056270; Note=No experimental confirmation available.; 


uniprotID: Q9H788
geneSymbol: SH2D4A
name: SH2 domain-containing protein 4A (Protein SH(2)A) (Protein phosphatase 1 regulatory subunit 38)
length: 454
go: ENSG00000104611;
snps: rs35647122 rs4921637 rs877386 rs34608771
sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; phosphatase binding [GO:0019902]; negative regulation of phosphatase activity [GO:0010923]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9H788-1; Sequence=Displayed; Name=2; IsoId=Q9H788-2; Sequence=VSP_042784; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:18641339}. Note=Located at podocyte foot processes. {ECO:0000250}.


uniprotID: Q9H299
geneSymbol: SH3BGRL3
pdb: 1SJ6;
name: SH3 domain-binding glutamic acid-rich-like protein 3 (SH3 domain-binding protein 1) (SH3BP-1)
sequence: MSGLRVYSTSVTGSREIKSQQSEVTRILDGKRIQYQLVDISQDNALRDEMRALAGNPKATPPQIVNGDQYCGDYELFVEAVEQNTLQEFLKLA
length: 93
go: ENSG00000142669;
location: SUBCELLULAR LOCATION: Cytoplasm. Nucleus.
opentargets:
cytoplasm [GO:0005737]; extracellular exosome [GO:0070062]; nuclear body [GO:0016604]; electron transfer activity [GO:0009055]; protein disulfide oxidoreductase activity [GO:0015035]; cell redox homeostasis [GO:0045454]


uniprotID: Q5SQS7
geneSymbol: SH2D4B
name: SH2 domain-containing protein 4B
length: 431
go: ENSG00000178217;
opentargets: cytoplasm [GO:0005737]
snps: rs7075840 rs11817391
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q5SQS7-1; Sequence=Displayed; Note=No experimental confirmation available. Gene prediction based on similarity to orthologs and cDNA data. {ECO:0000305}; Name=2; IsoId=Q5SQS7-2; Sequence=VSP_029010, VSP_029012; Note=No experimental confirmation available. {ECO:0000305}; Name=3; IsoId=Q5SQS7-3; Sequence=VSP_029009, VSP_029011, VSP_029012; Note=No experimental confirmation available. {ECO:0000305}; 


uniprotID: O60902
geneSymbol: SHOX2
name: Short stature homeobox protein 2 (Homeobox protein Og12X) (Paired-related homeobox protein SHOT)
length: 331
go: ENSG00000168779;
location: SUBCELLULAR LOCATION: Nucleus.
sequence:

opentargets:
nucleus [GO:0005634]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; sequence-specific DNA binding [GO:0043565]; cardiac atrium morphogenesis [GO:0003209]; cartilage development involved in endochondral bone morphogenesis [GO:0060351]; chondrocyte development [GO:0002063]; embryonic digestive tract morphogenesis [GO:0048557]; embryonic forelimb morphogenesis [GO:0035115]; embryonic skeletal joint morphogenesis [GO:0060272]; heart development [GO:0007507]; heart valve development [GO:0003170]; muscle tissue morphogenesis [GO:0060415]; nervous system development [GO:0007399]; osteoblast differentiation [GO:0001649]; positive regulation of axonogenesis [GO:0050772]; positive regulation of mesenchymal cell proliferation [GO:0002053]; positive regulation of skeletal muscle fiber development [GO:0048743]; positive regulation of smoothened signaling pathway [GO:0045880]; regulation of branching morphogenesis of a nerve [GO:2000172]; regulation of chondrocyte differentiation [GO:0032330]; skeletal system development [GO:0001501]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; Synonyms=SHOX2A, SHOTA; IsoId=O60902-1; Sequence=Displayed; Note=May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.; Name=2; Synonyms=SHOX2B, SHOTB, OG12XB; IsoId=O60902-2; Sequence=VSP_002288; Name=3; IsoId=O60902-3; Sequence=VSP_024427; Note=No experimental confirmation available.; 


uniprotID: A0PJX4
geneSymbol: SHISA3
name: Protein shisa-3 homolog
length: 238
go: ENSG00000178343;
snps: rs11733156
sequence:

opentargets:
endoplasmic reticulum membrane [GO:0005789]; integral component of membrane [GO:0016021]; multicellular organism development [GO:0007275]

location:
SUBCELLULAR LOCATION: Endoplasmic reticulum membrane {ECO:0000250, ECO:0000250|UniProtKB:Q7T0Z7}; Single-pass type I membrane protein {ECO:0000250|UniProtKB:Q7T0Z7}.


uniprotID: Q96DD7
geneSymbol: SHISA4
name: Protein shisa-4 (Transmembrane protein 58)
length: 197
go: ENSG00000198892;
opentargets: integral component of membrane [GO:0016021]
snps: rs2250377
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Single-pass type I membrane protein {ECO:0000305}.
sequence:
MPPAGLRRAAPLTAIALLVLGAPLVLAGEDCLWYLDRNGSWHPGFNCEFFTFCCGTCYHRYCCRDLTLLITERQQKHCLAFSPKTIAGIASAVILFVAVVATTICCFLCSCCYLYRRRQQLQSPFEGQEIPMTGIPVQPVYPYPQDPKAGPAPPQPGFIYPPSGPAPQYPLYPAGPPVYNPAAPPPYMPPQPSYPGA


uniprotID: Q92835
geneSymbol: INPP5D
reactome: R-HSA-1660499;R-HSA-1855204;R-HSA-202424;R-HSA-210990;R-HSA-912526;
pdb: 2YSX;
length: 1189
go: ENSG00000168918;
snps: rs9247
name:
Phosphatidylinositol 3,4,5-trisphosphate 5-phosphatase 1 (EC 3.1.3.86) (Inositol polyphosphate-5-phosphatase of 145 kDa) (SIP-145) (SH2 domain-containing inositol 5'-phosphatase 1) (SH2 domain-containing inositol phosphatase 1) (SHIP-1) (p150Ship) (hp51CN)

sequence:

opentargets:
cytoskeleton [GO:0005856]; cytosol [GO:0005829]; membrane raft [GO:0045121]; plasma membrane [GO:0005886]; inositol-1,3,4,5-tetrakisphosphate 5-phosphatase activity [GO:0052659]; inositol-polyphosphate 5-phosphatase activity [GO:0004445]; phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity [GO:0016314]; phosphatidylinositol-3,4,5-trisphosphate 5-phosphatase activity [GO:0034485]; SH3 domain binding [GO:0017124]; apoptotic process [GO:0006915]; cytokine-mediated signaling pathway [GO:0019221]; determination of adult lifespan [GO:0008340]; immunoglobulin mediated immune response [GO:0016064]; inositol phosphate metabolic process [GO:0043647]; intracellular signal transduction [GO:0035556]; leukocyte migration [GO:0050900]; negative regulation of B cell proliferation [GO:0030889]; negative regulation of bone resorption [GO:0045779]; negative regulation of immune response [GO:0050777]; negative regulation of interleukin-6 biosynthetic process [GO:0045409]; negative regulation of monocyte differentiation [GO:0045656]; negative regulation of neutrophil differentiation [GO:0045659]; negative regulation of osteoclast differentiation [GO:0045671]; negative regulation of signal transduction [GO:0009968]; phosphate-containing compound metabolic process [GO:0006796]; phosphatidylinositol biosynthetic process [GO:0006661]; phosphatidylinositol dephosphorylation [GO:0046856]; positive regulation of apoptotic process [GO:0043065]; positive regulation of B cell differentiation [GO:0045579]; positive regulation of erythrocyte differentiation [GO:0045648]; signal transduction [GO:0007165]; T cell receptor signaling pathway [GO:0050852]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q92835-1; Sequence=Displayed; Name=2; IsoId=Q92835-2; Sequence=VSP_027978; Name=3; Synonyms=SIP-110; IsoId=Q92835-3; Sequence=VSP_027977, VSP_027979; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:10822173}. Cell membrane {ECO:0000250|UniProtKB:Q9ES52}; Peripheral membrane protein {ECO:0000250|UniProtKB:Q9ES52}. Membrane raft {ECO:0000250|UniProtKB:Q9ES52}. Cytoplasm, cytoskeleton {ECO:0000250|UniProtKB:Q9ES52}. Membrane {ECO:0000269|PubMed:10822173}; Peripheral membrane protein {ECO:0000269|PubMed:10822173}. Note=Translocates to the plasma membrane when activated, translocation is probably due to different mechanisms depending on the stimulus and cell type. Translocates from the cytoplasm to membrane ruffles in a FCGR3/CD16-dependent manner. Colocalizes with FC-gamma-RIIB receptor (FCGR2B) or FCGR3/CD16 at membrane ruffles. Tyrosine phosphorylation may also participate in membrane localization. {ECO:0000250|UniProtKB:Q9ES52}.


uniprotID: Q6ZSJ9
geneSymbol: SHISA6
name: Protein shisa-6
length: 500
go: ENSG00000188803;
sequence:

opentargets:
AMPA glutamate receptor complex [GO:0032281]; asymmetric, glutamatergic, excitatory synapse [GO:0098985]; cell junction [GO:0030054]; dendritic spine membrane [GO:0032591]; integral component of postsynaptic density membrane [GO:0099061]; postsynaptic density [GO:0014069]; postsynaptic membrane [GO:0045211]; synapse [GO:0045202]; ionotropic glutamate receptor binding [GO:0035255]; PDZ domain binding [GO:0030165]; excitatory chemical synaptic transmission [GO:0098976]; negative regulation of canonical Wnt signaling pathway [GO:0090090]; postsynaptic neurotransmitter receptor diffusion trapping [GO:0098970]; regulation of AMPA glutamate receptor clustering [GO:1904717]; regulation of AMPA receptor activity [GO:2000311]; regulation of postsynaptic neurotransmitter receptor activity [GO:0098962]; regulation of short-term neuronal synaptic plasticity [GO:0048172]; spermatogenesis [GO:0007283]; Wnt signaling pathway [GO:0016055]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q6ZSJ9-1; Sequence=Displayed; Name=2; IsoId=Q6ZSJ9-2; Sequence=VSP_032565; Note=No experimental confirmation available.; Name=3; IsoId=Q6ZSJ9-3; Sequence=VSP_040558; 

location:
SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Single-pass type I membrane protein {ECO:0000250|UniProtKB:Q3UH99}. Cell junction, synapse, postsynaptic cell membrane, postsynaptic density {ECO:0000250|UniProtKB:Q3UH99}.


uniprotID: Q9UQ13
geneSymbol: SHOC2
name: Leucine-rich repeat protein SHOC-2 (Protein soc-2 homolog) (Protein sur-8 homolog)
length: 582
go: ENSG00000108061;
snps: rs267607048 rs730881020
sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; photoreceptor inner segment [GO:0001917]; photoreceptor outer segment membrane [GO:0042622]; protein phosphatase type 1 complex [GO:0000164]; protein phosphatase 1 binding [GO:0008157]; protein phosphatase binding [GO:0019903]; protein phosphatase regulator activity [GO:0019888]; protein serine/threonine phosphatase activity [GO:0004722]; fibroblast growth factor receptor signaling pathway [GO:0008543]; positive regulation of Ras protein signal transduction [GO:0046579]; protein dephosphorylation [GO:0006470]; Ras protein signal transduction [GO:0007265]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9UQ13-1; Sequence=Displayed; Name=2; IsoId=Q9UQ13-2; Sequence=VSP_038188; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:19684605, ECO:0000269|PubMed:25137548}. Nucleus {ECO:0000269|PubMed:19684605, ECO:0000269|PubMed:25137548}. Note=Translocates from cytoplasm to nucleus upon growth factor stimulation.


uniprotID: Q11203
geneSymbol: ST3GAL3
reactome: R-HSA-1912420;R-HSA-2022854;R-HSA-3656243;R-HSA-4085001;R-HSA-977068;
length: 375
go: ENSG00000126091;
snps: rs387906943
name:
CMP-N-acetylneuraminate-beta-1,4-galactoside alpha-2,3-sialyltransferase (EC 2.4.99.6) (Beta-galactoside alpha-2,3-sialyltransferase 3) (Alpha 2,3-ST 3) (Gal beta-1,3(4) GlcNAc alpha-2,3 sialyltransferase) (N-acetyllactosaminide alpha-2,3-sialyltransferase) (ST3Gal III) (ST3GalIII) (ST3N) (Sialyltransferase 6)

sequence:

opentargets:
extracellular region [GO:0005576]; Golgi cisterna membrane [GO:0032580]; Golgi membrane [GO:0000139]; integral component of membrane [GO:0016021]; beta-galactoside (CMP) alpha-2,3-sialyltransferase activity [GO:0003836]; N-acetyllactosaminide alpha-2,3-sialyltransferase activity [GO:0008118]; sialyltransferase activity [GO:0008373]; keratan sulfate biosynthetic process [GO:0018146]; O-glycan processing [GO:0016266]; protein glycosylation [GO:0006486]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=26;  Name=B1; IsoId=Q11203-1; Sequence=Displayed; Name=A1; IsoId=Q11203-2; Sequence=VSP_010591; Name=A7; IsoId=Q11203-3; Sequence=VSP_010591, VSP_010607, VSP_010609; Name=A8; IsoId=Q11203-4; Sequence=VSP_010591, VSP_010597; Name=B1-90; IsoId=Q11203-5; Sequence=VSP_010617; Name=B1+32; IsoId=Q11203-6; Sequence=VSP_010611, VSP_010614; Note=May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.; Name=B3; IsoId=Q11203-7; Sequence=VSP_010598; Name=B4; IsoId=Q11203-8; Sequence=VSP_010618; Name=B4+173; IsoId=Q11203-9; Sequence=VSP_010600, VSP_010603; Note=May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.; Name=B5+26; IsoId=Q11203-10; Sequence=VSP_010613; Name=B5+173; IsoId=Q11203-11; Sequence=VSP_010602, VSP_010605; Note=May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.; Name=B7; IsoId=Q11203-12; Sequence=VSP_010607, VSP_010609; Name=B8; IsoId=Q11203-13; Sequence=VSP_010597; Name=B10; IsoId=Q11203-14; Sequence=VSP_010606, VSP_010608; Note=May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.; Name=C1; IsoId=Q11203-15; Sequence=VSP_010594; Name=C4; IsoId=Q11203-16; Sequence=VSP_010594, VSP_010618; Name=C5; IsoId=Q11203-17; Sequence=VSP_010594, VSP_010610, VSP_010615; Name=C7; IsoId=Q11203-18; Sequence=VSP_010594, VSP_010607, VSP_010609; Name=C8; IsoId=Q11203-19; Sequence=VSP_010594, VSP_010597; Name=C9; IsoId=Q11203-20; Sequence=VSP_010594, VSP_010612, VSP_010616; Note=May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.; Name=C11; IsoId=Q11203-21; Sequence=VSP_010594, VSP_010598, VSP_010618; Name=C12; IsoId=Q11203-22; Sequence=VSP_010594, VSP_010601, VSP_010604; Name=D2+26; IsoId=Q11203-23; Sequence=VSP_010593, VSP_010613; Name=D5; IsoId=Q11203-24; Sequence=VSP_010593, VSP_010610, VSP_010615; Name=E1; IsoId=Q11203-25; Sequence=VSP_010592, VSP_010596; Note=May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.; Name=E3+32; IsoId=Q11203-26; Sequence=VSP_010595, VSP_010599; Note=May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.; 


uniprotID: Q9H4F1
geneSymbol: ST6GALNAC4
reactome: R-HSA-4085001;R-HSA-977068;
length: 302
go: ENSG00000136840;
name:
Alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3-N-acetyl-galactosaminide alpha-2,6-sialyltransferase (EC 2.4.99.7) (NeuAc-alpha-2,3-Gal-beta-1,3-GalNAc-alpha-2,6-sialyltransferase) (ST6GalNAc IV) (ST6GalNAcIV) (Sialyltransferase 3C) (SIAT3-C) (Sialyltransferase 7D) (SIAT7-D)

sequence:

opentargets:
Golgi membrane [GO:0000139]; integral component of membrane [GO:0016021]; (alpha-N-acetylneuraminyl-2,3-beta-galactosyl-1,3)-N-acetyl-galactosaminide 6-alpha-sialyltransferase activity [GO:0047290]; alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase activity [GO:0001665]; sialyltransferase activity [GO:0008373]; glycolipid metabolic process [GO:0006664]; O-glycan processing [GO:0016266]


uniprotID: Q9NXL6
geneSymbol: SIDT1
name: SID1 transmembrane family member 1
length: 827
go: ENSG00000072858;
snps: rs9879313 rs2271496 rs33990195
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Multi-pass membrane protein {ECO:0000305}.
sequence:

opentargets:
integral component of membrane [GO:0016021]; RNA binding [GO:0003723]; RNA transmembrane transporter activity [GO:0051033]; dsRNA transport [GO:0033227]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9NXL6-1; Sequence=Displayed; Name=2; IsoId=Q9NXL6-2; Sequence=VSP_039174; Note=No experimental confirmation available.; 


uniprotID: Q9H115
geneSymbol: NAPB
reactome: R-HSA-204005;R-HSA-6807878;R-HSA-6811434;R-HSA-6811438;R-HSA-6811440;
length: 298
go: ENSG00000125814;
snps: rs6036399
location: SUBCELLULAR LOCATION: Membrane {ECO:0000250}; Peripheral membrane protein {ECO:0000250}.
name:
Beta-soluble NSF attachment protein (SNAP-beta) (N-ethylmaleimide-sensitive factor attachment protein beta)

sequence:

opentargets:
extracellular exosome [GO:0070062]; SNARE complex [GO:0031201]; synaptobrevin 2-SNAP-25-syntaxin-1a complex [GO:0070044]; vacuolar membrane [GO:0005774]; soluble NSF attachment protein activity [GO:0005483]; syntaxin binding [GO:0019905]; intracellular protein transport [GO:0006886]; regulation of synaptic vesicle priming [GO:0010807]; SNARE complex disassembly [GO:0035494]; synaptic transmission, glutamatergic [GO:0035249]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q9H115-1; Sequence=Displayed; Name=2; IsoId=Q9H115-2; Sequence=VSP_055278; Note=No experimental confirmation available.; Name=3; IsoId=Q9H115-3; Sequence=VSP_055276, VSP_055277; Note=No experimental confirmation available.; 


uniprotID: Q9BQG1
geneSymbol: SYT3
name: Synaptotagmin-3 (Synaptotagmin III) (SytIII)
length: 590
go: ENSG00000213023;
sequence:

opentargets:
endosome [GO:0005768]; exocytic vesicle [GO:0070382]; integral component of membrane [GO:0016021]; plasma membrane [GO:0005886]; presynapse [GO:0098793]; transport vesicle membrane [GO:0030658]; calcium ion binding [GO:0005509]; calcium-dependent phospholipid binding [GO:0005544]; clathrin binding [GO:0030276]; phosphatidylserine binding [GO:0001786]; SNARE binding [GO:0000149]; syntaxin binding [GO:0019905]; calcium ion regulated exocytosis [GO:0017156]; cellular response to calcium ion [GO:0071277]; positive regulation of dendrite extension [GO:1903861]; regulation of dopamine secretion [GO:0014059]; synaptic vesicle exocytosis [GO:0016079]; vesicle-mediated transport [GO:0016192]

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000250|UniProtKB:P40748}; Single-pass membrane protein {ECO:0000255}. Cytoplasmic vesicle, secretory vesicle membrane {ECO:0000305}; Single-pass membrane protein {ECO:0000255}.


uniprotID: Q9H2B2
geneSymbol: SYT4
pdb: 1UGK;
name: Synaptotagmin-4 (Synaptotagmin IV) (SytIV)
length: 425
go: ENSG00000132872;
snps: rs16977447
sequence:

opentargets:
astrocyte projection [GO:0097449]; axon [GO:0030424]; cell junction [GO:0030054]; dendrite [GO:0030425]; dense core granule membrane [GO:0032127]; exocytic vesicle [GO:0070382]; glutamatergic synapse [GO:0098978]; integral component of Golgi membrane [GO:0030173]; integral component of neuronal dense core vesicle membrane [GO:0099066]; integral component of synaptic vesicle membrane [GO:0030285]; intracellular membrane-bounded organelle [GO:0043231]; microvesicle [GO:1990742]; neuron projection [GO:0043005]; neuron projection terminus [GO:0044306]; neuronal cell body [GO:0043025]; perinuclear region of cytoplasm [GO:0048471]; plasma membrane [GO:0005886]; calcium ion binding [GO:0005509]; calcium-dependent phospholipid binding [GO:0005544]; clathrin binding [GO:0030276]; phosphatidylserine binding [GO:0001786]; protein heterodimerization activity [GO:0046982]; protein homodimerization activity [GO:0042803]; SNARE binding [GO:0000149]; syntaxin-1 binding [GO:0017075]; syntaxin-3 binding [GO:0030348]; brain development [GO:0007420]; calcium ion regulated exocytosis [GO:0017156]; calcium ion-regulated exocytosis of neurotransmitter [GO:0048791]; cellular response to calcium ion [GO:0071277]; memory [GO:0007613]; negative regulation of calcium ion-dependent exocytosis [GO:0045955]; negative regulation of catecholamine secretion [GO:0033604]; negative regulation of dense core granule exocytosis [GO:1905414]; negative regulation of protein secretion [GO:0050709]; negative regulation of retrograde trans-synaptic signaling by neuropeptide [GO:1905433]; negative regulation of short-term neuronal synaptic plasticity [GO:0048174]; negative regulation of synaptic vesicle exocytosis [GO:2000301]; negative regulation of vesicle fusion [GO:0031339]; positive regulation of calcium ion-dependent exocytosis [GO:0045956]; positive regulation of dendrite extension [GO:1903861]; positive regulation of dense core granule exocytosis [GO:1905415]; positive regulation of glutamate secretion [GO:0014049]; regulation of dopamine secretion [GO:0014059]; regulation of endocytosis [GO:0030100]; regulation of presynaptic dense core granule exocytosis [GO:0099161]; secretory granule maturation [GO:0061792]; trans-synaptic signaling by BDNF, modulating synaptic transmission [GO:0099183]; vesicle fusion with vesicle [GO:0061782]; vesicle-mediated transport [GO:0016192]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9H2B2-1; Sequence=Displayed; Name=2; IsoId=Q9H2B2-2; Sequence=VSP_056643; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasmic vesicle, secretory vesicle, synaptic vesicle membrane; Single-pass membrane protein.


uniprotID: Q6IEE8
geneSymbol: SLFN12L
name: Schlafen family member 12-like
length: 588
go: ENSG00000205045;
opentargets: integral component of membrane [GO:0016021]; ATP binding [GO:0005524]
snps: rs12451679 rs2304967 rs777316634 rs3744372
location: SUBCELLULAR LOCATION: Membrane; Single-pass membrane protein.
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q6IEE8-1; Sequence=Displayed; Note=Gene prediction based on similarity to Pongo abelii ortholog.; Name=2; IsoId=Q6IEE8-2; Sequence=VSP_040137; 


uniprotID: O43623
geneSymbol: SNAI2
reactome: R-HSA-8943724;
name: Zinc finger protein SNAI2 (Neural crest transcription factor Slug) (Protein snail homolog 2)
length: 268
go: ENSG00000019549;
snps: rs11544360 rs748917911 rs13280993
sequence:

opentargets:
cytoplasm [GO:0005737]; nuclear chromatin [GO:0000790]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; chromatin binding [GO:0003682]; DNA binding [GO:0003677]; DNA-binding transcription factor activity [GO:0003700]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; DNA-binding transcription repressor activity, RNA polymerase II-specific [GO:0001227]; E-box binding [GO:0070888]; metal ion binding [GO:0046872]; proximal promoter DNA-binding transcription repressor activity, RNA polymerase II-specific [GO:0001078]; RNA polymerase II regulatory region sequence-specific DNA binding [GO:0000977]; sequence-specific DNA binding [GO:0043565]; transcription factor activity, RNA polymerase II distal enhancer sequence-specific binding [GO:0003705]; aortic valve morphogenesis [GO:0003180]; cartilage morphogenesis [GO:0060536]; cell migration involved in endocardial cushion formation [GO:0003273]; cellular response to epidermal growth factor stimulus [GO:0071364]; cellular response to ionizing radiation [GO:0071479]; desmosome disassembly [GO:0035921]; epithelial to mesenchymal transition [GO:0001837]; epithelial to mesenchymal transition involved in endocardial cushion formation [GO:0003198]; epithelium development [GO:0060429]; negative regulation of anoikis [GO:2000811]; negative regulation of canonical Wnt signaling pathway [GO:0090090]; negative regulation of cell adhesion involved in substrate-bound cell migration [GO:0006933]; negative regulation of cell adhesion mediated by integrin [GO:0033629]; negative regulation of cell-cell adhesion by negative regulation of transcription from RNA polymerase II promoter [GO:1900387]; negative regulation of chondrocyte differentiation [GO:0032331]; negative regulation of DNA damage response, signal transduction by p53 class mediator [GO:0043518]; negative regulation of extrinsic apoptotic signaling pathway in absence of ligand [GO:2001240]; negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage [GO:1902230]; negative regulation of keratinocyte proliferation [GO:0010839]; negative regulation of stem cell proliferation [GO:2000647]; negative regulation of transcription by RNA polymerase II [GO:0000122]; negative regulation of vitamin D biosynthetic process [GO:0010957]; negative regulation of vitamin D receptor signaling pathway [GO:0070563]; neural crest cell development [GO:0014032]; Notch signaling pathway [GO:0007219]; osteoblast differentiation [GO:0001649]; pigmentation [GO:0043473]; positive regulation of cell migration [GO:0030335]; positive regulation of fat cell differentiation [GO:0045600]; positive regulation of histone acetylation [GO:0035066]; regulation of bicellular tight junction assembly [GO:2000810]; regulation of branching involved in salivary gland morphogenesis [GO:0060693]; regulation of chemokine production [GO:0032642]; regulation of osteoblast differentiation [GO:0045667]; regulation of transcription, DNA-templated [GO:0006355]; roof of mouth development [GO:0060021]; sensory perception of sound [GO:0007605]; white fat cell differentiation [GO:0050872]

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:25893292}. Cytoplasm. Note=Observed in discrete foci in interphase nuclei. These nuclear foci do not overlap with the nucleoli, the SP100 and the HP1 heterochromatin or the coiled body, suggesting SNAI2 is associated with active transcription or active splicing regions.


uniprotID: O95295
geneSymbol: SNAPIN
reactome: R-HSA-432722;
length: 136
go: ENSG00000143553;
snps: rs1802461
name:
SNARE-associated protein Snapin (Biogenesis of lysosome-related organelles complex 1 subunit 7) (BLOC-1 subunit 7) (Synaptosomal-associated protein 25-binding protein) (SNAP-associated protein)

sequence:
MAGAGSAAVSGAGTPVAGPTGRDLFAEGLLEFLRPAVQQLDSHVHAVRESQVELREQIDNLATELCRINEDQKVALDLDPYVKKLLNARRRVVLVNNILQNAQERLRRLNHSVAKETARRRAMLDSGIYPPGSPGK

opentargets:
axon cytoplasm [GO:1904115]; BLOC-1 complex [GO:0031083]; BORC complex [GO:0099078]; cell junction [GO:0030054]; Golgi membrane [GO:0000139]; lysosomal membrane [GO:0005765]; perinuclear region of cytoplasm [GO:0048471]; secretory granule [GO:0030141]; synapse [GO:0045202]; synaptic vesicle [GO:0008021]; synaptic vesicle membrane [GO:0030672]; SNARE binding [GO:0000149]; anterograde axonal transport [GO:0008089]; anterograde synaptic vesicle transport [GO:0048490]; autophagosome maturation [GO:0097352]; cellular protein-containing complex localization [GO:0034629]; endosome to lysosome transport [GO:0008333]; intracellular protein transport [GO:0006886]; late endosome to lysosome transport [GO:1902774]; lysosomal lumen acidification [GO:0007042]; lysosome localization [GO:0032418]; melanosome organization [GO:0032438]; negative regulation of neuron projection development [GO:0010977]; neuron projection development [GO:0031175]; neurotransmitter secretion [GO:0007269]; positive regulation of late endosome to lysosome transport [GO:1902824]; protein maturation [GO:0051604]; regulation of protein binding [GO:0043393]; regulation of synaptic vesicle exocytosis [GO:2000300]; retrograde axonal transport [GO:0008090]; synaptic vesicle exocytosis [GO:0016079]; synaptic vesicle fusion to presynaptic active zone membrane [GO:0031629]; synaptic vesicle maturation [GO:0016188]; synaptic vesicle transport [GO:0048489]; terminal button organization [GO:0072553]; viral process [GO:0016032]

location:
SUBCELLULAR LOCATION: Membrane {ECO:0000250|UniProtKB:Q9Z266}; Peripheral membrane protein {ECO:0000250|UniProtKB:Q9Z266}; Cytoplasmic side {ECO:0000250|UniProtKB:Q9Z266}. Cytoplasm, cytosol {ECO:0000250|UniProtKB:Q9Z266}. Cytoplasm, perinuclear region {ECO:0000269|PubMed:18167355, ECO:0000269|PubMed:19168546, ECO:0000269|PubMed:21102408}. Golgi apparatus membrane {ECO:0000250|UniProtKB:Q9Z266}. Lysosome membrane {ECO:0000305|PubMed:25898167}. Cytoplasmic vesicle, secretory vesicle, synaptic vesicle membrane {ECO:0000305|PubMed:21102408}. Note=Colocalizes with NANOS1 and PUM2 in the perinuclear region of germ cells. {ECO:0000269|PubMed:19168546}.


uniprotID: Q12824
geneSymbol: SMARCB1
reactome: R-HSA-3214858;R-HSA-8939243;
pdb: 5AJ1;5GJK;5L7A;5L7B;6AX5;
length: 385
go: ENSG00000099956;
snps: rs398122368 rs886039520 rs1057517825 rs387906812
location: SUBCELLULAR LOCATION: Nucleus.
name:
SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily B member 1 (BRG1-associated factor 47) (BAF47) (Integrase interactor 1 protein) (SNF5 homolog) (hSNF5)

sequence:

opentargets:
fibrillar center [GO:0001650]; intracellular membrane-bounded organelle [GO:0043231]; nBAF complex [GO:0071565]; npBAF complex [GO:0071564]; nuclear chromatin [GO:0000790]; nucleolus [GO:0005730]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; protein-containing complex [GO:0032991]; SWI/SNF complex [GO:0016514]; DNA binding [GO:0003677]; p53 binding [GO:0002039]; RNA polymerase I CORE element sequence-specific DNA binding [GO:0001164]; Tat protein binding [GO:0030957]; transcription coactivator activity [GO:0003713]; ATP-dependent chromatin remodeling [GO:0043044]; cell cycle [GO:0007049]; cell differentiation [GO:0030154]; chromatin remodeling [GO:0006338]; DNA integration [GO:0015074]; negative regulation of cell proliferation [GO:0008285]; negative regulation of histone H3-K9 dimethylation [GO:1900110]; negative regulation of histone H3-K9 trimethylation [GO:1900113]; nervous system development [GO:0007399]; nucleosome disassembly [GO:0006337]; positive regulation by host of viral transcription [GO:0043923]; positive regulation of DNA-binding transcription factor activity [GO:0051091]; positive regulation of glucose mediated signaling pathway [GO:1902661]; positive regulation of histone H3-K9 acetylation [GO:2000617]; positive regulation of histone H4 acetylation [GO:0090240]; positive regulation of transcription by RNA polymerase II [GO:0045944]; positive regulation of transcription of nucleolar large rRNA by RNA polymerase I [GO:1901838]; regulation of transcription by RNA polymerase II [GO:0006357]; single stranded viral RNA replication via double stranded DNA intermediate [GO:0039692]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=A; Synonyms=INI1A; IsoId=Q12824-1; Sequence=Displayed; Name=B; Synonyms=INI1B; IsoId=Q12824-2; Sequence=VSP_004399; 


uniprotID: Q8TER0
geneSymbol: SNED1
length: 1413
go: ENSG00000162804;
snps: rs17440466 rs6721345 rs6708120 rs2108485
location: SUBCELLULAR LOCATION: Secreted {ECO:0000305}.
name:
Sushi, nidogen and EGF-like domain-containing protein 1 (Insulin-responsive sequence DNA-binding protein 1) (IRE-BP1)

sequence:

opentargets:
extracellular region [GO:0005576]; calcium ion binding [GO:0005509]; cell-matrix adhesion [GO:0007160]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=Q8TER0-1; Sequence=Displayed; Name=2; IsoId=Q8TER0-3; Sequence=VSP_027749, VSP_027752; Note=No experimental confirmation available.; Name=3; IsoId=Q8TER0-4; Sequence=VSP_027749, VSP_027753, VSP_027754; Note=No experimental confirmation available.; Name=4; IsoId=Q8TER0-5; Sequence=VSP_027750, VSP_027751; Note=No experimental confirmation available.; 


uniprotID: Q96C24
geneSymbol: SYTL4
reactome: R-HSA-114608;
pdb: 2CSZ;3FDW;5X6T;
name: Synaptotagmin-like protein 4 (Exophilin-2) (Granuphilin)
length: 671
go: ENSG00000102362;
drug: DB00030;DB00071;
snps: rs2022039
sequence:

opentargets:
cytosol [GO:0005829]; endosome [GO:0005768]; exocytic vesicle [GO:0070382]; extrinsic component of membrane [GO:0019898]; microtubule organizing center [GO:0005815]; nucleoplasm [GO:0005654]; plasma membrane [GO:0005886]; platelet alpha granule membrane [GO:0031092]; transport vesicle membrane [GO:0030658]; metal ion binding [GO:0046872]; neurexin family protein binding [GO:0042043]; phospholipid binding [GO:0005543]; Rab GTPase binding [GO:0017137]; intracellular protein transport [GO:0006886]; multivesicular body sorting pathway [GO:0071985]; negative regulation of insulin secretion [GO:0046676]; platelet degranulation [GO:0002576]; positive regulation of exocytosis [GO:0045921]; positive regulation of protein secretion [GO:0050714]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q96C24-1; Sequence=Displayed; Name=2; IsoId=Q96C24-2; Sequence=VSP_015237, VSP_015238; Note=May be due to an intron retention. No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Membrane {ECO:0000250}; Peripheral membrane protein {ECO:0000250}. Cell membrane {ECO:0000250}; Peripheral membrane protein {ECO:0000250}. Cytoplasmic vesicle, secretory vesicle membrane {ECO:0000250}; Peripheral membrane protein {ECO:0000250}. Note=Detected close to the plasma membrane and on secretory granules. In pancreas, interacts with insulin-containing vesicles (By similarity). {ECO:0000250}.


uniprotID: O43759
geneSymbol: SYNGR1
reactome: R-HSA-6798695;
name: Synaptogyrin-1
length: 233
go: ENSG00000100321;
sequence:

opentargets:
azurophil granule membrane [GO:0035577]; cell junction [GO:0030054]; integral component of membrane [GO:0016021]; integral component of synaptic vesicle membrane [GO:0030285]; melanosome [GO:0042470]; plasma membrane [GO:0005886]; synaptic vesicle membrane [GO:0030672]; cellular response to leukemia inhibitory factor [GO:1990830]; neutrophil degranulation [GO:0043312]; protein targeting [GO:0006605]; regulated exocytosis [GO:0045055]; regulation of long-term neuronal synaptic plasticity [GO:0048169]; regulation of short-term neuronal synaptic plasticity [GO:0048172]; synaptic vesicle membrane organization [GO:0048499]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1A; IsoId=O43759-1; Sequence=Displayed; Name=1B; IsoId=O43759-2; Sequence=VSP_006332; Name=1C; IsoId=O43759-3; Sequence=VSP_006331, VSP_006332; 

location:
SUBCELLULAR LOCATION: Cytoplasmic vesicle, secretory vesicle, synaptic vesicle membrane {ECO:0000250|UniProtKB:Q62876}; Multi-pass membrane protein {ECO:0000250|UniProtKB:Q62876}. Melanosome {ECO:0000269|PubMed:17081065}. Note=Identified by mass spectrometry in melanosome fractions from stage I to stage IV. {ECO:0000269|PubMed:17081065}.


uniprotID: O95473
geneSymbol: SYNGR4
name: Synaptogyrin-4
length: 234
go: ENSG00000105467;
opentargets: integral component of membrane [GO:0016021]; synaptic vesicle membrane [GO:0030672]
snps: rs919804
location: SUBCELLULAR LOCATION: Membrane; Multi-pass membrane protein.
sequence:


uniprotID: Q53HV7
geneSymbol: SMUG1
reactome: R-HSA-110328;R-HSA-110329;R-HSA-110357;
name: Single-strand selective monofunctional uracil DNA glycosylase (EC 3.2.2.-)
length: 270
go: ENSG00000123415;
snps: rs2233920 rs3136389
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:10074426, ECO:0000269|PubMed:12161446}.
sequence:

opentargets:
nucleolus [GO:0005730]; nucleoplasm [GO:0005654]; DNA binding [GO:0003677]; DNA N-glycosylase activity [GO:0019104]; oxidized pyrimidine nucleobase lesion DNA N-glycosylase activity [GO:0000703]; single-strand selective uracil DNA N-glycosylase activity [GO:0017065]; uracil DNA N-glycosylase activity [GO:0004844]; base-excision repair [GO:0006284]; depyrimidination [GO:0045008]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q53HV7-1; Sequence=Displayed; Name=2; IsoId=Q53HV7-2; Sequence=VSP_015150, VSP_015151; Note=No experimental confirmation available.; 


uniprotID: O75324
geneSymbol: SNN
pdb: 1ZZA;
name: Stannin (AG8_1)
sequence: MSIMDHSPTTGVVTVIVILIAIAALGALILGCWCYLRLQRISQSEDEESIVGDGETKEPFLLVQYSAKGPCVERKAKLMTPNGPEVHG
length: 88
go: ENSG00000184602;
snps: rs8191328 rs8191329
opentargets:
cytoplasm [GO:0005737]; integral component of membrane [GO:0016021]; mitochondrial outer membrane [GO:0005741]; metal ion binding [GO:0046872]; response to toxic substance [GO:0009636]

location:
SUBCELLULAR LOCATION: Mitochondrion outer membrane {ECO:0000269|PubMed:15269288, ECO:0000269|PubMed:16246365}; Single-pass membrane protein {ECO:0000269|PubMed:16246365}.


uniprotID: Q9BV90
geneSymbol: SNRNP25
reactome: R-HSA-72165;
length: 132
go: ENSG00000161981;
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:15146077}.
name:
U11/U12 small nuclear ribonucleoprotein 25 kDa protein (U11/U12 snRNP 25 kDa protein) (U11/U12-25K) (Minus-99 protein)

sequence:
MDVFQEGLAMVVQDPLLCDLPIQVTLEEVNSQIALEYGQAMTVRVCKMDGEVMPVVVVQSATVLDLKKAIQRYVQLKQEREGGIQHISWSYVWRTYHLTSAGEKLTEDRKKLRDYGIRNRDEVSFIKKLRQK

opentargets:
cytosol [GO:0005829]; intercellular bridge [GO:0045171]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; U12-type spliceosomal complex [GO:0005689]; mRNA splicing, via spliceosome [GO:0000398]; RNA splicing [GO:0008380]


uniprotID: B1AK76
geneSymbol: SNURFL
name: Putative SNURF-like protein
length: 121
opentargets: nuclear speck [GO:0016607]
sequence:
MEQARDHLHLRWTTEQHMPEVEVQVKYRTAALSNQECQLYLRHSQQQQVLVVDFQAKLRQVFITETPRCGKKPYWNNEEAESKQNPGSIYCLLLLIRGGMSDSLIKREISNFEIVSKNKKN


uniprotID: Q53GS9
geneSymbol: USP39
reactome: R-HSA-72163;
pdb: 3JCR;
length: 565
go: ENSG00000168883;
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:11350945, ECO:0000269|PubMed:26912367}.
name:
U4/U6.U5 tri-snRNP-associated protein 2 (Inactive ubiquitin-specific peptidase 39) (SAD1 homolog) (U4/U6.U5 tri-snRNP-associated 65 kDa protein) (65K)

sequence:

opentargets:
nucleoplasm [GO:0005654]; nucleus [GO:0005634]; spliceosomal complex [GO:0005681]; U4/U6 x U5 tri-snRNP complex [GO:0046540]; thiol-dependent ubiquitinyl hydrolase activity [GO:0036459]; zinc ion binding [GO:0008270]; cell cycle [GO:0007049]; cell division [GO:0051301]; mRNA processing [GO:0006397]; mRNA splicing, via spliceosome [GO:0000398]; protein deubiquitination [GO:0016579]; RNA splicing [GO:0008380]; spliceosomal complex assembly [GO:0000245]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q53GS9-1; Sequence=Displayed; Name=2; IsoId=Q53GS9-2; Sequence=VSP_045167, VSP_045168; Name=3; IsoId=Q53GS9-3; Sequence=VSP_046822; 


uniprotID: Q5SXM2
geneSymbol: SNAPC4
reactome: R-HSA-6807505;R-HSA-749476;R-HSA-76071;
length: 1469
go: ENSG00000165684;
snps: rs7031489 rs3812571 rs3812561
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000255|PROSITE-ProRule:PRU00625}.
name:
snRNA-activating protein complex subunit 4 (SNAPc subunit 4) (Proximal sequence element-binding transcription factor subunit alpha) (PSE-binding factor subunit alpha) (PTF subunit alpha) (snRNA-activating protein complex 190 kDa subunit) (SNAPc 190 kDa subunit)

sequence:

opentargets:
nucleoplasm [GO:0005654]; nucleus [GO:0005634]; snRNA-activating protein complex [GO:0019185]; DNA binding [GO:0003677]; DNA-binding transcription factor activity [GO:0003700]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; snRNA transcription [GO:0009301]; snRNA transcription by RNA polymerase II [GO:0042795]; snRNA transcription by RNA polymerase III [GO:0042796]; transcription by RNA polymerase II [GO:0006366]; transcription by RNA polymerase III [GO:0006383]


uniprotID: O75971
geneSymbol: SNAPC5
reactome: R-HSA-6807505;R-HSA-749476;R-HSA-76071;
sequence: MLSRLQELRKEEETLLRLKAALHDQLNRLKVEELALQSMISSRRGDEMLSSHTVPEQSHDMLVHVDNEASINQTTLELSTKSHVTEEEEEEEEEESDS
length: 98
go: ENSG00000174446;
location: SUBCELLULAR LOCATION: Nucleus.
name:
snRNA-activating protein complex subunit 5 (SNAPc subunit 5) (Small nuclear RNA-activating complex polypeptide 5) (snRNA-activating protein complex 19 kDa subunit) (SNAPc 19 kDa subunit)

opentargets:
nuclear body [GO:0016604]; nucleolus [GO:0005730]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; DNA-binding transcription factor activity [GO:0003700]; snRNA transcription by RNA polymerase II [GO:0042795]; transcription by RNA polymerase II [GO:0006366]; transcription initiation from RNA polymerase III promoter [GO:0006384]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=O75971-1; Sequence=Displayed; Name=2; IsoId=O75971-2; Sequence=VSP_012785; 


uniprotID: Q9Y5X0
geneSymbol: SNX10
pdb: 4ON3;4PZG;
name: Sorting nexin-10
length: 201
go: ENSG00000086300;
snps: rs779298714 rs771038257 rs398123011 rs1053042
sequence:

opentargets:
apical cytoplasm [GO:0090651]; endoplasmic reticulum [GO:0005783]; extrinsic component of endosome membrane [GO:0031313]; microtubule organizing center [GO:0005815]; nucleus [GO:0005634]; secretory granule [GO:0030141]; 1-phosphatidylinositol binding [GO:0005545]; ATPase binding [GO:0051117]; bone mineralization [GO:0030282]; bone resorption [GO:0045453]; calcium ion homeostasis [GO:0055074]; cellular response to leukemia inhibitory factor [GO:1990830]; cilium assembly [GO:0060271]; endocytosis [GO:0006897]; endosome organization [GO:0007032]; gastric acid secretion [GO:0001696]; osteoclast differentiation [GO:0030316]; protein localization to centrosome [GO:0071539]; protein localization to cilium [GO:0061512]; protein transport [GO:0015031]; ruffle assembly [GO:0097178]; tooth eruption [GO:0044691]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9Y5X0-1; Sequence=Displayed; Name=2; IsoId=Q9Y5X0-2; Sequence=VSP_045920; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasm. Endosome membrane; Peripheral membrane protein; Cytoplasmic side. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome. Note=May also localize to nucleus and endoplasmic reticulum.


uniprotID: Q9UMY4
geneSymbol: SNX12
pdb: 2CSK;
name: Sorting nexin-12
length: 172
go: ENSG00000147164;
sequence:
MSDTAVADTRRLNSKPQDLTDAYGPPSNFLEIDIFNPQTVGVGRARFTTYEVRMRTNLPIFKLKESCVRRRYSDFEWLKNELERDSKIVVPPLPGKALKRQLPFRGDEGIFEESFIEERRQGLEQFINKIAGHPLAQNERCLHMFLQEEAIDRNYVPGKSLAVSCPGWSAVA

opentargets:
early endosome [GO:0005769]; membrane [GO:0016020]; enzyme binding [GO:0019899]; phosphatidylinositol binding [GO:0035091]; negative regulation of early endosome to late endosome transport [GO:2000642]; negative regulation of gene expression [GO:0010629]; negative regulation of protein catabolic process [GO:0042177]; negative regulation of protein processing [GO:0010955]; negative regulation of protein transport [GO:0051224]; protein transport [GO:0015031]; regulation of endocytosis [GO:0030100]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q9UMY4-1; Sequence=Displayed; Name=2; IsoId=Q9UMY4-2; Sequence=VSP_011038; Name=3; IsoId=Q9UMY4-3; Sequence=VSP_046830, VSP_011038; Note=Gene prediction based on EST data.; 

location:
SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Peripheral membrane protein {ECO:0000305}; Cytoplasmic side {ECO:0000305}.


uniprotID: Q9Y5W8
geneSymbol: SNX13
name: Sorting nexin-13 (RGS domain- and PHOX domain-containing protein) (RGS-PX1)
length: 968
go: ENSG00000071189;
snps: rs35113148
sequence:

opentargets:
early endosome [GO:0005769]; early endosome membrane [GO:0031901]; phosphatidylinositol binding [GO:0035091]; phosphatidylinositol-3-phosphate binding [GO:0032266]; intracellular protein transport [GO:0006886]; negative regulation of signal transduction [GO:0009968]; positive regulation of GTPase activity [GO:0043547]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9Y5W8-1; Sequence=Displayed; Name=2; IsoId=Q9Y5W8-2; Sequence=VSP_006192; Note=May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay. No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Early endosome membrane {ECO:0000269|PubMed:11729322}; Peripheral membrane protein {ECO:0000269|PubMed:11729322}; Cytoplasmic side {ECO:0000269|PubMed:11729322}.


uniprotID: Q5VWJ9
geneSymbol: SNX30
name: Sorting nexin-30
length: 437
go: ENSG00000148158;
opentargets: cytoplasm [GO:0005737]; phosphatidylinositol binding [GO:0035091]; protein transport [GO:0015031]
snps: rs2796036 rs10117709
sequence:


uniprotID: Q96RF0
geneSymbol: SNX18
reactome: R-HSA-8856828;
length: 628
go: ENSG00000178996;
snps: rs2548612 rs13162502
name:
Sorting nexin-18 (SH3 and PX domain-containing protein 3B) (Sorting nexin-associated Golgi protein 1)

sequence:

opentargets:
cytoplasmic vesicle [GO:0031410]; cytoplasmic vesicle membrane [GO:0030659]; endosome membrane [GO:0010008]; extracellular exosome [GO:0070062]; extrinsic component of cytoplasmic side of plasma membrane [GO:0031234]; phosphatidylinositol-4,5-bisphosphate binding [GO:0005546]; cleavage furrow formation [GO:0036089]; endocytosis [GO:0006897]; endosomal transport [GO:0016197]; mitotic cytokinesis [GO:0000281]; positive regulation of GTPase activity [GO:0043547]; protein transport [GO:0015031]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q96RF0-1; Sequence=Displayed; Name=2; IsoId=Q96RF0-2; Sequence=VSP_035839; Name=3; IsoId=Q96RF0-3; Sequence=VSP_045476; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Endomembrane system; Peripheral membrane protein; Cytoplasmic side. Endosome membrane; Peripheral membrane protein; Cytoplasmic side. Cell membrane; Peripheral membrane protein; Cytoplasmic side. Cytoplasmic vesicle membrane; Peripheral membrane protein; Cytoplasmic side. Note=Localized at sites of endocytosis at the cell membrane. Detected on newly formed macropinosomes. Partially colocalized with clathrin and dynamin at the cell membrane. Transiently recruited to clathrin-coated pits at a late stage of clathrin-coated vesicle formation.


uniprotID: Q92543
geneSymbol: SNX19
name: Sorting nexin-19
length: 992
go: ENSG00000120451;
snps: rs3751037 rs1050081 rs3190345 rs681982 rs4414223 rs2298566
sequence:

opentargets:
cytoplasm [GO:0005737]; cytoplasmic vesicle membrane [GO:0030659]; early endosome membrane [GO:0031901]; phosphatidylinositol-3-phosphate binding [GO:0032266]; chondrocyte differentiation [GO:0002062]; dense core granule maturation [GO:1990502]; exocytosis [GO:0006887]; insulin secretion [GO:0030073]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q92543-1; Sequence=Displayed; Name=2; IsoId=Q92543-2; Sequence=VSP_057153, VSP_057154, VSP_057155; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Early endosome membrane {ECO:0000250|UniProtKB:Q6P4T1}; Peripheral membrane protein {ECO:0000250|UniProtKB:Q6P4T1}; Cytoplasmic side {ECO:0000250|UniProtKB:Q6P4T1}. Cytoplasmic vesicle membrane {ECO:0000305}; Peripheral membrane protein {ECO:0000305}; Cytoplasmic side {ECO:0000305}.


uniprotID: Q96L94
geneSymbol: SNX22
pdb: 2ETT;
name: Sorting nexin-22
length: 193
go: ENSG00000157734;
sequence:
MLEVHIPSVGPEAEGPRQSPEKSHMVFRVEVLCSGRRHTVPRRYSEFHALHKRIKKLYKVPDFPSKRLPNWRTRGLEQRRQGLEAYIQGILYLNQEVPKELLEFLRLRHFPTDPKASNWGTLREFLPGDSSSQQHQRPVLSFHVDPYVCNPSPESLPNVVVNGVLQGLYSFSISPDKAQPKAACHPAPLPPMP

opentargets:
cytoplasmic vesicle membrane [GO:0030659]; phosphatidylinositol binding [GO:0035091]; protein transport [GO:0015031]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q96L94-1; Sequence=Displayed; Name=2; IsoId=Q96L94-2; Sequence=VSP_056595; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasmic vesicle membrane {ECO:0000250}; Peripheral membrane protein {ECO:0000250}; Cytoplasmic side {ECO:0000250}.


uniprotID: Q96L92
geneSymbol: SNX27
pdb: 4HAS;
name: Sorting nexin-27
length: 541
go: ENSG00000143376;
snps: rs11204871
sequence:

opentargets:
cytosol [GO:0005829]; early endosome [GO:0005769]; early endosome membrane [GO:0031901]; endosome [GO:0005768]; immunological synapse [GO:0001772]; nucleoplasm [GO:0005654]; phosphatidylinositol binding [GO:0035091]; phosphatidylinositol-3-phosphate binding [GO:0032266]; endosomal transport [GO:0016197]; endosome to lysosome transport [GO:0008333]; establishment of natural killer cell polarity [GO:0001770]; intracellular protein transport [GO:0006886]; retrograde transport, endosome to plasma membrane [GO:1990126]; signal transduction [GO:0007165]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; Synonyms=SNX27a; IsoId=Q96L92-1; Sequence=Displayed; Name=2; Synonyms=SNX27b; IsoId=Q96L92-3; Sequence=VSP_030539; Name=3; IsoId=Q96L92-2; Sequence=VSP_030537, VSP_030538, VSP_030539; Note=May be due to intron retention.; 

location:
SUBCELLULAR LOCATION: Early endosome membrane; Peripheral membrane protein. Cytoplasm, cytosol. Note=Localizes to immunological synapse in T-cells. In T-cells, recruited from the cytosol to sorting endosomes by phosphoinositide-3-kinase products.


uniprotID: O60749
geneSymbol: SNX2
reactome: R-HSA-432722;
name: Sorting nexin-2 (Transformation-related gene 9 protein) (TRG-9)
length: 519
go: ENSG00000205302;
sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; early endosome membrane [GO:0031901]; endosome [GO:0005768]; endosome membrane [GO:0010008]; lamellipodium [GO:0030027]; lysosome [GO:0005764]; membrane [GO:0016020]; protein-containing complex [GO:0032991]; retromer complex [GO:0030904]; retromer, tubulation complex [GO:0030905]; cadherin binding [GO:0045296]; epidermal growth factor receptor binding [GO:0005154]; insulin receptor binding [GO:0005158]; leptin receptor binding [GO:1990460]; phosphatidylinositol binding [GO:0035091]; protein heterodimerization activity [GO:0046982]; protein homodimerization activity [GO:0042803]; transferrin receptor binding [GO:1990459]; early endosome to Golgi transport [GO:0034498]; endocytosis [GO:0006897]; intracellular protein transport [GO:0006886]; lamellipodium morphogenesis [GO:0072673]; protein complex oligomerization [GO:0051259]; retrograde transport, endosome to Golgi [GO:0042147]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=O60749-1; Sequence=Displayed; Name=2; IsoId=O60749-2; Sequence=VSP_054785; 

location:
SUBCELLULAR LOCATION: Early endosome membrane {ECO:0000269|PubMed:16179610, ECO:0000269|PubMed:17101778}; Peripheral membrane protein {ECO:0000269|PubMed:16179610, ECO:0000269|PubMed:17101778}; Cytoplasmic side {ECO:0000269|PubMed:16179610, ECO:0000269|PubMed:17101778}. Cell projection, lamellipodium {ECO:0000269|PubMed:20604901}. Note=Colocalized with SORT1 to tubular endosomal membrane structures called endosome-to-TGN transport carriers (ETCs) which are budding from early endosome vacuoles just before maturing into late endosome vacuoles (PubMed:18088323). Colocalized with F-actin at the leading edge of lamellipodia in cells in a KALRN-dependent manner (PubMed:20604901). {ECO:0000269|PubMed:18088323, ECO:0000269|PubMed:20604901}.


uniprotID: Q9UIG8
geneSymbol: SLCO3A1
reactome: R-HSA-879518;
length: 710
go: ENSG00000176463;
drug: DB00770;DB00345;DB01053;DB00286;DB01160;DB00917;DB01088;DB00563;DB06654;DB04348;
snps: rs1517618
location: SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein.
name:
Solute carrier organic anion transporter family member 3A1 (OATP3A1) (Organic anion transporter polypeptide-related protein 3) (OATP-RP3) (OATPRP3) (Organic anion-transporting polypeptide D) (OATP-D) (PGE1 transporter) (Sodium-independent organic anion transporter D) (Solute carrier family 21 member 11)

sequence:

opentargets:
integral component of plasma membrane [GO:0005887]; plasma membrane [GO:0005886]; sodium-independent organic anion transmembrane transporter activity [GO:0015347]; prostaglandin transport [GO:0015732]; sodium-independent organic anion transport [GO:0043252]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; Synonyms=OATP3A1-v1; IsoId=Q9UIG8-1; Sequence=Displayed; Name=2; Synonyms=OATP3A1-v2; IsoId=Q9UIG8-2; Sequence=VSP_036837, VSP_036838; Name=3; IsoId=Q9UIG8-3; Sequence=VSP_036834, VSP_036835, VSP_036836; Note=No experimental confirmation available.; Name=4; IsoId=Q9UIG8-4; Sequence=VSP_036833; Note=No experimental confirmation available.; 


uniprotID: Q9UNH6
geneSymbol: SNX7
pdb: 3IQ2;
name: Sorting nexin-7
length: 387
go: ENSG00000162627;
snps: rs35391040 rs12033678
sequence:

opentargets:
cytoplasmic vesicle membrane [GO:0030659]; phosphatidylinositol binding [GO:0035091]; protein transport [GO:0015031]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q9UNH6-1; Sequence=Displayed; Name=2; IsoId=Q9UNH6-2; Sequence=VSP_006191; Name=3; IsoId=Q9UNH6-3; Sequence=VSP_039044; 

location:
SUBCELLULAR LOCATION: Cytoplasmic vesicle membrane {ECO:0000250}; Peripheral membrane protein {ECO:0000250}; Cytoplasmic side {ECO:0000250}.


uniprotID: Q6ZQN7
geneSymbol: SLCO4C1
reactome: R-HSA-6798695;R-HSA-879518;
length: 724
go: ENSG00000173930;
drug: DB00509;DB01396;DB00390;DB00451;DB00279;DB01583;DB00563;DB01092;DB06335;
name:
Solute carrier organic anion transporter family member 4C1 (OATP-H) (Organic anion transporter M1) (OATP-M1) (Solute carrier family 21 member 20)

sequence:

opentargets:
azurophil granule membrane [GO:0035577]; basolateral plasma membrane [GO:0016323]; extracellular exosome [GO:0070062]; integral component of plasma membrane [GO:0005887]; plasma membrane [GO:0005886]; specific granule membrane [GO:0035579]; sodium-independent organic anion transmembrane transporter activity [GO:0015347]; cell differentiation [GO:0030154]; multicellular organism development [GO:0007275]; neutrophil degranulation [GO:0043312]; sodium-independent organic anion transport [GO:0043252]; spermatogenesis [GO:0007283]

location:
SUBCELLULAR LOCATION: Basolateral cell membrane {ECO:0000250|UniProtKB:Q71MB6}; Multi-pass membrane protein {ECO:0000250|UniProtKB:Q71MB6}. Note=Detected at the basolateral membrane of the proximal tubule cell in the kidney. {ECO:0000250|UniProtKB:Q71MB6}.


uniprotID: Q9NYB5
geneSymbol: SLCO1C1
reactome: R-HSA-879518;
length: 712
go: ENSG00000139155;
name:
Solute carrier organic anion transporter family member 1C1 (Organic anion transporter F) (OATP-F) (Organic anion transporter polypeptide-related protein 5) (OAT-RP-5) (OATPRP5) (Organic anion-transporting polypeptide 14) (OATP-14) (Solute carrier family 21 member 14) (Thyroxine transporter)

sequence:

opentargets:
integral component of plasma membrane [GO:0005887]; plasma membrane [GO:0005886]; bile acid transmembrane transporter activity [GO:0015125]; sodium-independent organic anion transmembrane transporter activity [GO:0015347]; thyroid hormone transmembrane transporter activity [GO:0015349]; bile acid and bile salt transport [GO:0015721]; sodium-independent organic anion transport [GO:0043252]

drug:
DB00286;DB00509;DB00586;DB00390;DB00917;DB00783;DB00451;DB00279;DB01583;DB00939;DB00563;DB01092;DB00252;DB01032;DB04348;

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=Q9NYB5-1; Sequence=Displayed; Name=2; IsoId=Q9NYB5-2; Sequence=VSP_042882; Note=No experimental confirmation available.; Name=3; IsoId=Q9NYB5-3; Sequence=VSP_045279; Name=4; IsoId=Q9NYB5-4; Sequence=VSP_045278, VSP_045279; Note=No experimental confirmation available. {ECO:0000305}; 

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:18687783}; Multi-pass membrane protein {ECO:0000269|PubMed:18687783}. Note=Expressed in both luminal and abluminal membranes of brain capillary endothelial cells. Localized to the apical membrane and basal surfaces of choroid plexus (By similarity). {ECO:0000250}.


uniprotID: Q92959
geneSymbol: SLCO2A1
reactome: R-HSA-5619095;R-HSA-879518;
pdb: 3MRR;
length: 643
go: ENSG00000174640;
drug: DB00770;DB04557;DB01160;DB00917;DB00695;DB03581;DB02263;DB01088;DB04398;DB01174;DB01819;DB00119;
snps: rs387907296 rs555934769 rs774795340 rs387906806 rs34550074 rs387907295 rs146970901
location: SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein.
name:
Solute carrier organic anion transporter family member 2A1 (Prostaglandin transporter) (PGT) (Solute carrier family 21 member 2)

sequence:

opentargets:
integral component of plasma membrane [GO:0005887]; membrane [GO:0016020]; plasma membrane [GO:0005886]; lipid transporter activity [GO:0005319]; prostaglandin transmembrane transporter activity [GO:0015132]; sodium-independent organic anion transmembrane transporter activity [GO:0015347]; lipid transport [GO:0006869]; prostaglandin transport [GO:0015732]; sodium-independent organic anion transport [GO:0043252]


uniprotID: P00441
geneSymbol: SOD1
reactome: R-HSA-114608;R-HSA-3299685;R-HSA-8950505;
name: Superoxide dismutase [Cu-Zn] (EC 1.15.1.1) (Superoxide dismutase 1) (hSod1)
length: 154
go: ENSG00000142168;
drug: DB05025;DB00958;DB00515;DB00526;DB03382;DB00163;
pdb:
1AZV;1BA9;1DSW;1FUN;1HL4;1HL5;1KMG;1L3N;1MFM;1N18;1N19;1OEZ;1OZT;1OZU;1P1V;1PTZ;1PU0;1RK7;1SOS;1SPD;1UXL;1UXM;2AF2;2C9S;2C9U;2C9V;2GBT;2GBU;2GBV;2LU5;2MP3;2NAM;2NNX;2R27;2V0A;2VR6;2VR7;2VR8;2WKO;2WYT;2WYZ;2WZ0;2WZ5;2WZ6;2XJK;2XJL;2ZKW;2ZKX;2ZKY;3CQP;3CQQ;3ECU;3ECV;3ECW;3GQF;3GTV;3GZO;3GZP;3GZQ;3H2P;3H2Q;3HFF;3K91;3KH3;3KH4;3LTV;3QQD;3RE0;3T5W;4A7G;4A7Q;4A7S;4A7T;4A7U;4A7V;4B3E;4BCY;4BCZ;4BD4;4FF9;4MCM;4MCN;4NIN;4NIO;4NIP;4OH2;4SOD;4XCR;5DLI;5IIW;5J07;5J0C;5J0F;5J0G;5K02;5O3Y;5O40;5U9M;5WMJ;5WOR;6B79;

sequence:
MATKAVCVLKGDGPVQGIINFEQKESNGPVKVWGSIKGLTEGLHGFHVHEFGDNTAGCTSAGPHFNPLSRKHGGPKDEERHVGDLGNVTADKDGVADVSIEDSVISLSGDHCIIGRTLVVHEKADDLGKGGNEESTKTGNAGSRLACGVIGIAQ

opentargets:
axon cytoplasm [GO:1904115]; collagen-containing extracellular matrix [GO:0062023]; cytoplasm [GO:0005737]; cytoplasmic vesicle [GO:0031410]; cytosol [GO:0005829]; dendrite cytoplasm [GO:0032839]; dense core granule [GO:0031045]; extracellular exosome [GO:0070062]; extracellular region [GO:0005576]; extracellular space [GO:0005615]; lysosome [GO:0005764]; mitochondrial intermembrane space [GO:0005758]; mitochondrial matrix [GO:0005759]; mitochondrion [GO:0005739]; myelin sheath [GO:0043209]; neuronal cell body [GO:0043025]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; peroxisome [GO:0005777]; protein-containing complex [GO:0032991]; chaperone binding [GO:0051087]; copper ion binding [GO:0005507]; identical protein binding [GO:0042802]; protein homodimerization activity [GO:0042803]; protein phosphatase 2B binding [GO:0030346]; Rac GTPase binding [GO:0048365]; superoxide dismutase activity [GO:0004784]; superoxide dismutase copper chaperone activity [GO:0016532]; zinc ion binding [GO:0008270]; activation of MAPK activity [GO:0000187]; anterograde axonal transport [GO:0008089]; auditory receptor cell stereocilium organization [GO:0060088]; cell aging [GO:0007569]; cellular iron ion homeostasis [GO:0006879]; cellular response to ATP [GO:0071318]; cellular response to cadmium ion [GO:0071276]; cellular response to oxidative stress [GO:0034599]; cellular response to potassium ion [GO:0035865]; embryo implantation [GO:0007566]; glutathione metabolic process [GO:0006749]; heart contraction [GO:0060047]; hydrogen peroxide biosynthetic process [GO:0050665]; interleukin-12-mediated signaling pathway [GO:0035722]; locomotory behavior [GO:0007626]; muscle cell cellular homeostasis [GO:0046716]; myeloid cell homeostasis [GO:0002262]; negative regulation of cholesterol biosynthetic process [GO:0045541]; negative regulation of neuron apoptotic process [GO:0043524]; neurofilament cytoskeleton organization [GO:0060052]; ovarian follicle development [GO:0001541]; peripheral nervous system myelin maintenance [GO:0032287]; placenta development [GO:0001890]; platelet degranulation [GO:0002576]; positive regulation of apoptotic process [GO:0043065]; positive regulation of catalytic activity [GO:0043085]; positive regulation of cytokine production [GO:0001819]; positive regulation of oxidative stress-induced intrinsic apoptotic signaling pathway [GO:1902177]; positive regulation of superoxide anion generation [GO:0032930]; reactive oxygen species metabolic process [GO:0072593]; regulation of blood pressure [GO:0008217]; regulation of GTPase activity [GO:0043087]; regulation of mitochondrial membrane potential [GO:0051881]; regulation of multicellular organism growth [GO:0040014]; regulation of organ growth [GO:0046620]; regulation of protein kinase activity [GO:0045859]; regulation of T cell differentiation in thymus [GO:0033081]; relaxation of vascular smooth muscle [GO:0060087]; removal of superoxide radicals [GO:0019430]; response to amphetamine [GO:0001975]; response to antipsychotic drug [GO:0097332]; response to axon injury [GO:0048678]; response to carbon monoxide [GO:0034465]; response to copper ion [GO:0046688]; response to drug [GO:0042493]; response to ethanol [GO:0045471]; response to heat [GO:0009408]; response to hydrogen peroxide [GO:0042542]; response to organic substance [GO:0010033]; response to superoxide [GO:0000303]; retina homeostasis [GO:0001895]; retrograde axonal transport [GO:0008090]; sensory perception of sound [GO:0007605]; spermatogenesis [GO:0007283]; superoxide anion generation [GO:0042554]; superoxide metabolic process [GO:0006801]; thymus development [GO:0048538]; transmission of nerve impulse [GO:0019226]

snps:
rs121912444 rs121912442 rs121912448 rs121912456 rs121912453 rs121912450 rs121912431 rs121912432 rs121912434 rs121912433 rs121912435 rs121912457 rs121912443 rs986277034 rs121912455 rs121912452 rs121912436 rs11556620 rs80265967 rs121912438 rs121912437 rs121912437 rs121912439 rs121912445 rs121912440 rs74315452 rs121912441 rs121912451 rs121912446 rs121912447 rs567511139 rs121912449 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:19741096}. Mitochondrion {ECO:0000269|PubMed:19741096}. Nucleus {ECO:0000269|PubMed:22496122}. Note=Predominantly cytoplasmic; the pathogenic variants ALS1 Arg-86 and Ala-94 gradually aggregates and accumulates in mitochondria. {ECO:0000269|PubMed:19741096}.


uniprotID: P18583
geneSymbol: SON
length: 2426
go: ENSG00000159140;
snps: rs35622138 rs13049658 rs11908823 rs13433428 rs13047599
name:
Protein SON (Bax antagonist selected in saccharomyces 1) (BASS1) (Negative regulatory element-binding protein) (NRE-binding protein) (Protein DBP-5) (SON3)

sequence:

opentargets:
nuclear speck [GO:0016607]; DNA binding [GO:0003677]; RNA binding [GO:0003723]; RS domain binding [GO:0050733]; microtubule cytoskeleton organization [GO:0000226]; mitotic cytokinesis [GO:0000281]; mRNA processing [GO:0006397]; negative regulation of apoptotic process [GO:0043066]; regulation of cell cycle [GO:0051726]; regulation of mRNA splicing, via spliceosome [GO:0048024]; regulation of RNA splicing [GO:0043484]; RNA splicing [GO:0008380]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=10;  Comment=Experimental confirmation may be lacking for some isoforms.; Name=F; IsoId=P18583-1; Sequence=Displayed; Name=A; IsoId=P18583-2; Sequence=VSP_004401, VSP_004402, VSP_004403; Name=B; IsoId=P18583-3; Sequence=VSP_004404, VSP_004405; Name=C; IsoId=P18583-4; Sequence=VSP_004406, VSP_004407; Note=May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.; Name=D; IsoId=P18583-5; Sequence=VSP_004403; Name=E; IsoId=P18583-6; Sequence=VSP_004408, VSP_004409; Note=May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.; Name=G; IsoId=P18583-7; Sequence=VSP_004410; Name=H; IsoId=P18583-8; Sequence=VSP_004411, VSP_004412; Name=I; IsoId=P18583-9; Sequence=VSP_004413; Name=J; IsoId=P18583-10; Sequence=VSP_004414, VSP_004415; 

location:
SUBCELLULAR LOCATION: Nucleus speckle {ECO:0000269|PubMed:1424986, ECO:0000269|PubMed:21504830}. Note=Colocalizes with the pre-mRNA splicing factor SRSF2.


uniprotID: Q8WY21
geneSymbol: SORCS1
name: VPS10 domain-containing receptor SorCS1 (hSorCS)
length: 1168
go: ENSG00000108018;
location: SUBCELLULAR LOCATION: Membrane; Single-pass type I membrane protein.
sequence:

opentargets:
integral component of membrane [GO:0016021]; membrane [GO:0016020]; neuropeptide receptor activity [GO:0008188]; neuropeptide signaling pathway [GO:0007218]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; Synonyms=B; IsoId=Q8WY21-1; Sequence=Displayed; Name=2; IsoId=Q8WY21-2; Sequence=VSP_006204; Note=Gene prediction based on EST data.; Name=3; Synonyms=C; IsoId=Q8WY21-3; Sequence=VSP_015140; Name=4; Synonyms=A; IsoId=Q8WY21-4; Sequence=VSP_015141; Note=No experimental confirmation available.; 


uniprotID: Q96PQ0
geneSymbol: SORCS2
pdb: 1WGO;
name: VPS10 domain-containing receptor SorCS2
length: 1159
go: ENSG00000184985;
snps: rs34058821 rs16840892 rs16840899
location: SUBCELLULAR LOCATION: Membrane; Single-pass type I membrane protein.
sequence:

opentargets:
integral component of membrane [GO:0016021]; membrane [GO:0016020]; neuropeptide receptor activity [GO:0008188]; neuropeptide signaling pathway [GO:0007218]


uniprotID: Q9NRY2
geneSymbol: INIP
pdb: 4OWT;4OWW;
length: 104
go: ENSG00000148153;
name:
SOSS complex subunit C (INTS3- and NABP-interacting protein) (Sensor of single-strand DNA complex subunit C) (Sensor of ssDNA subunit C) (SOSS-C) (Single-stranded DNA-binding protein-interacting protein 1) (SSB-interacting protein 1) (hSSBIP1)

sequence:
MAANSSGQGFQNKNRVAILAELDKEKRKLLMQNQSSTNHPGASIALSRPSLNKDFRDHAEQQHIAAQQKAALQHAHAHSSGYFITQDSAFGNLILPVLPRLDPE

opentargets:
nucleoplasm [GO:0005654]; nucleus [GO:0005634]; SOSS complex [GO:0070876]; cellular response to DNA damage stimulus [GO:0006974]; DNA repair [GO:0006281]; response to ionizing radiation [GO:0010212]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9NRY2-1; Sequence=Displayed; Name=2; IsoId=Q9NRY2-2; Sequence=VSP_023423, VSP_023424; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:19605351, ECO:0000269|PubMed:19683501}. Note=Localizes to nuclear foci following DNA damage.


uniprotID: Q99523
geneSymbol: SORT1
reactome: R-HSA-432722;
pdb: 3F6K;3G2U;3G2V;4MSL;4N7E;4PO7;5MRH;5MRI;6EHO;
name: Sortilin (100 kDa NT receptor) (Glycoprotein 95) (Gp95) (Neurotensin receptor 3) (NT3) (NTR3)
length: 831
go: ENSG00000134243;
snps: rs2228605
sequence:

opentargets:
cell surface [GO:0009986]; clathrin-coated pit [GO:0005905]; clathrin-coated vesicle [GO:0030136]; cytoplasmic vesicle [GO:0031410]; cytoplasmic vesicle membrane [GO:0030659]; cytosol [GO:0005829]; dendrite [GO:0030425]; early endosome [GO:0005769]; endoplasmic reticulum membrane [GO:0005789]; endosome membrane [GO:0010008]; Golgi apparatus [GO:0005794]; Golgi cisterna membrane [GO:0032580]; integral component of membrane [GO:0016021]; lysosomal membrane [GO:0005765]; neuronal cell body [GO:0043025]; nuclear membrane [GO:0031965]; perinuclear region of cytoplasm [GO:0048471]; plasma membrane [GO:0005886]; trans-Golgi network transport vesicle [GO:0030140]; enzyme binding [GO:0019899]; nerve growth factor binding [GO:0048406]; nerve growth factor receptor activity [GO:0010465]; neurotensin receptor activity, non-G protein-coupled [GO:0030379]; endocytosis [GO:0006897]; endosome to lysosome transport [GO:0008333]; endosome transport via multivesicular body sorting pathway [GO:0032509]; extrinsic apoptotic signaling pathway via death domain receptors [GO:0008625]; G protein-coupled receptor signaling pathway [GO:0007186]; glucose import [GO:0046323]; Golgi to endosome transport [GO:0006895]; multicellular organism development [GO:0007275]; myotube differentiation [GO:0014902]; negative regulation of fat cell differentiation [GO:0045599]; negative regulation of lipoprotein lipase activity [GO:0051005]; neuropeptide signaling pathway [GO:0007218]; neurotrophin TRK receptor signaling pathway [GO:0048011]; ossification [GO:0001503]; plasma membrane to endosome transport [GO:0048227]; positive regulation of epithelial cell apoptotic process [GO:1904037]; regulation of gene expression [GO:0010468]; response to insulin [GO:0032868]; vesicle organization [GO:0016050]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q99523-1; Sequence=Displayed; Name=2; IsoId=Q99523-2; Sequence=VSP_046239, VSP_046240; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Membrane; Single-pass type I membrane protein. Endoplasmic reticulum membrane {ECO:0000305}; Single-pass type I membrane protein {ECO:0000305}. Endosome membrane {ECO:0000305}; Single-pass type I membrane protein {ECO:0000305}. Golgi apparatus, Golgi stack membrane {ECO:0000305}; Single-pass type I membrane protein {ECO:0000305}. Nucleus membrane {ECO:0000305}; Single-pass type I membrane protein {ECO:0000305}. Cell membrane; Single-pass type I membrane protein; Extracellular side. Lysosome membrane {ECO:0000305}; Single-pass type I membrane protein {ECO:0000305}. Note=Localized to membranes of the endoplasmic reticulum, endosomes, Golgi stack, lysosomes and nucleus. A small fraction of the protein is also localized to the plasma membrane. May also be found in SLC2A4/GLUT4 storage vesicles (GSVs) in adipocytes. Localization to the plasma membrane in adipocytes may be enhanced by insulin.


uniprotID: O95416
geneSymbol: SOX14
name: Transcription factor SOX-14 (Protein SOX-28)
length: 240
go: ENSG00000168875;
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000255|PROSITE-ProRule:PRU00267}.
sequence:

opentargets:
nuclear transcription factor complex [GO:0044798]; nucleus [GO:0005634]; chromatin binding [GO:0003682]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; protein heterodimerization activity [GO:0046982]; sequence-specific DNA binding [GO:0043565]; cell differentiation [GO:0030154]; entrainment of circadian clock [GO:0009649]; negative regulation of transcription by RNA polymerase II [GO:0000122]; negative regulation of transcription, DNA-templated [GO:0045892]; nervous system development [GO:0007399]; regulation of neuron migration [GO:2001222]; regulation of transcription, DNA-templated [GO:0006355]; visual perception [GO:0007601]


uniprotID: P35716
geneSymbol: SOX11
name: Transcription factor SOX-11
length: 441
go: ENSG00000176887;
snps: rs587777480 rs587777479
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000255|PROSITE-ProRule:PRU00267, ECO:0000269|PubMed:24886874}.
sequence:

opentargets:
cytoplasm [GO:0005737]; nuclear transcription factor complex [GO:0044798]; nucleus [GO:0005634]; DNA-binding transcription factor activity [GO:0003700]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; enhancer sequence-specific DNA binding [GO:0001158]; proximal promoter DNA-binding transcription activator activity, RNA polymerase II-specific [GO:0001077]; RNA polymerase II proximal promoter sequence-specific DNA binding [GO:0000978]; transcription coactivator activity [GO:0003713]; transcription regulatory region sequence-specific DNA binding [GO:0000976]; translation factor activity, RNA binding [GO:0008135]; cardiac ventricle formation [GO:0003211]; cell differentiation [GO:0030154]; closure of optic fissure [GO:0061386]; cornea development in camera-type eye [GO:0061303]; embryonic digestive tract morphogenesis [GO:0048557]; embryonic skeletal system morphogenesis [GO:0048704]; eyelid development in camera-type eye [GO:0061029]; glial cell development [GO:0021782]; glial cell proliferation [GO:0014009]; hard palate development [GO:0060022]; kidney development [GO:0001822]; lens morphogenesis in camera-type eye [GO:0002089]; limb bud formation [GO:0060174]; lung morphogenesis [GO:0060425]; negative regulation of cell death [GO:0060548]; negative regulation of gene expression [GO:0010629]; negative regulation of glial cell proliferation [GO:0060253]; negative regulation of lymphocyte proliferation [GO:0050672]; negative regulation of transcription by RNA polymerase II [GO:0000122]; negative regulation of transcription regulatory region DNA binding [GO:2000678]; neural crest cell development [GO:0014032]; neural tube formation [GO:0001841]; neuroepithelial cell differentiation [GO:0060563]; neuron differentiation [GO:0030182]; noradrenergic neuron differentiation [GO:0003357]; oligodendrocyte development [GO:0014003]; outflow tract morphogenesis [GO:0003151]; positive regulation of BMP signaling pathway [GO:0030513]; positive regulation of cell proliferation [GO:0008284]; positive regulation of gene expression [GO:0010628]; positive regulation of hippo signaling [GO:0035332]; positive regulation of hormone secretion [GO:0046887]; positive regulation of lens epithelial cell proliferation [GO:2001111]; positive regulation of neurogenesis [GO:0050769]; positive regulation of neuron differentiation [GO:0045666]; positive regulation of ossification [GO:0045778]; positive regulation of osteoblast differentiation [GO:0045669]; positive regulation of stem cell proliferation [GO:2000648]; positive regulation of transcription by RNA polymerase II [GO:0045944]; positive regulation of transcription, DNA-templated [GO:0045893]; regulation of transcription, DNA-templated [GO:0006355]; regulation of transforming growth factor beta receptor signaling pathway [GO:0017015]; signal transduction involved in cell cycle checkpoint [GO:0072395]; skeletal muscle cell differentiation [GO:0035914]; skeletal system development [GO:0001501]; soft palate development [GO:0060023]; somite development [GO:0061053]; spinal cord development [GO:0021510]; sympathetic nervous system development [GO:0048485]; ventricular septum morphogenesis [GO:0060412]


uniprotID: O15370
geneSymbol: SOX12
name: Transcription factor SOX-12 (Protein SOX-22)
length: 315
go: ENSG00000177732;
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000255|PROSITE-ProRule:PRU00267, ECO:0000269|PubMed:9215677}.
sequence:

opentargets:
nuclear transcription factor complex [GO:0044798]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; protein-DNA complex [GO:0032993]; DNA binding [GO:0003677]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; proximal promoter DNA-binding transcription activator activity, RNA polymerase II-specific [GO:0001077]; transcription coactivator activity [GO:0003713]; transcription regulatory region sequence-specific DNA binding [GO:0000976]; cell differentiation [GO:0030154]; cell fate commitment [GO:0045165]; positive regulation of transcription by RNA polymerase II [GO:0045944]; protein-DNA complex assembly [GO:0065004]; regulation of transcription by RNA polymerase II [GO:0006357]; regulation of transcription, DNA-templated [GO:0006355]; spinal cord development [GO:0021510]


uniprotID: O00570
geneSymbol: SOX1
name: Transcription factor SOX-1
length: 391
go: ENSG00000182968;
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000305}.
sequence:

opentargets:
nuclear transcription factor complex [GO:0044798]; nucleus [GO:0005634]; DNA binding [GO:0003677]; DNA-binding transcription factor activity [GO:0003700]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; proximal promoter DNA-binding transcription activator activity, RNA polymerase II-specific [GO:0001077]; RNA polymerase II proximal promoter sequence-specific DNA binding [GO:0000978]; cell differentiation [GO:0030154]; cellular response to leukemia inhibitory factor [GO:1990830]; chromatin organization [GO:0006325]; forebrain neuron development [GO:0021884]; lens morphogenesis in camera-type eye [GO:0002089]; neuron migration [GO:0001764]; regulation of transcription, DNA-templated [GO:0006355]; ventral spinal cord interneuron specification [GO:0021521]


uniprotID: P41225
geneSymbol: SOX3
reactome: R-HSA-3769402;
name: Transcription factor SOX-3
length: 446
go: ENSG00000134595;
snps: rs73637709
location: SUBCELLULAR LOCATION: Nucleus.
sequence:

opentargets:
nuclear transcription factor complex [GO:0044798]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; DNA binding [GO:0003677]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; RNA polymerase II core promoter sequence-specific DNA binding [GO:0000979]; transcription corepressor activity [GO:0003714]; cell differentiation [GO:0030154]; central nervous system development [GO:0007417]; face development [GO:0060324]; hypothalamus development [GO:0021854]; negative regulation of neuron differentiation [GO:0045665]; pituitary gland development [GO:0021983]; regulation of transcription, DNA-templated [GO:0006355]; sensory organ development [GO:0007423]; sex determination [GO:0007530]


uniprotID: Q06945
geneSymbol: SOX4
reactome: R-HSA-3769402;
name: Transcription factor SOX-4
length: 474
go: ENSG00000124766;
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000255|PROSITE-ProRule:PRU00267, ECO:0000269|PubMed:16631117}.
sequence:

opentargets:
cytoplasm [GO:0005737]; mitochondrion [GO:0005739]; nuclear transcription factor complex [GO:0044798]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; DNA-binding transcription factor activity [GO:0003700]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; protein heterodimerization activity [GO:0046982]; proximal promoter DNA-binding transcription activator activity, RNA polymerase II-specific [GO:0001077]; RNA polymerase II proximal promoter sequence-specific DNA binding [GO:0000978]; transcription coactivator activity [GO:0003713]; transcription regulatory region sequence-specific DNA binding [GO:0000976]; ascending aorta morphogenesis [GO:0035910]; atrial septum primum morphogenesis [GO:0003289]; cardiac right ventricle morphogenesis [GO:0003215]; cardiac ventricle formation [GO:0003211]; cell differentiation [GO:0030154]; cellular response to glucose stimulus [GO:0071333]; DNA damage response, detection of DNA damage [GO:0042769]; DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest [GO:0006977]; endocrine pancreas development [GO:0031018]; glial cell development [GO:0021782]; glial cell proliferation [GO:0014009]; glucose homeostasis [GO:0042593]; heart development [GO:0007507]; kidney morphogenesis [GO:0060993]; limb bud formation [GO:0060174]; mitral valve morphogenesis [GO:0003183]; negative regulation of cell death [GO:0060548]; negative regulation of cell proliferation [GO:0008285]; negative regulation of protein ubiquitination [GO:0031397]; neural tube formation [GO:0001841]; neuroepithelial cell differentiation [GO:0060563]; noradrenergic neuron differentiation [GO:0003357]; positive regulation of apoptotic process [GO:0043065]; positive regulation of canonical Wnt signaling pathway [GO:0090263]; positive regulation of cell proliferation [GO:0008284]; positive regulation of insulin secretion [GO:0032024]; positive regulation of N-terminal peptidyl-lysine acetylation [GO:2000761]; positive regulation of transcription by RNA polymerase II [GO:0045944]; positive regulation of transcription, DNA-templated [GO:0045893]; positive regulation of translation [GO:0045727]; pro-B cell differentiation [GO:0002328]; protein stabilization [GO:0050821]; regulation of protein stability [GO:0031647]; regulation of transcription, DNA-templated [GO:0006355]; skeletal system development [GO:0001501]; somatic stem cell population maintenance [GO:0035019]; spinal cord development [GO:0021510]; spinal cord motor neuron differentiation [GO:0021522]; sympathetic nervous system development [GO:0048485]; T cell differentiation [GO:0030217]; ventricular septum morphogenesis [GO:0060412]


uniprotID: P35711
geneSymbol: SOX5
name: Transcription factor SOX-5
length: 763
go: ENSG00000134532;
snps: rs144670919
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000255|PROSITE-ProRule:PRU00267}.
sequence:

opentargets:
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]; asymmetric neuroblast division [GO:0055059]; cell fate commitment [GO:0045165]; cellular response to transforming growth factor beta stimulus [GO:0071560]; negative regulation of transcription, DNA-templated [GO:0045892]; positive regulation of cartilage development [GO:0061036]; positive regulation of chondrocyte differentiation [GO:0032332]; positive regulation of mesenchymal stem cell differentiation [GO:2000741]; positive regulation of transcription by RNA polymerase II [GO:0045944]; transcription by RNA polymerase II [GO:0006366]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=5;  Name=1; Synonyms=L-SOX5A; IsoId=P35711-1; Sequence=Displayed; Name=2; Synonyms=L-SOX5B; IsoId=P35711-2; Sequence=VSP_007261; Name=3; IsoId=P35711-3; Sequence=VSP_007262, VSP_007263; Note=No experimental confirmation available.; Name=4; IsoId=P35711-4; Sequence=VSP_007261, VSP_007264; Note=No experimental confirmation available.; Name=5; IsoId=P35711-5; Sequence=VSP_045997; Note=No experimental confirmation available.; 


uniprotID: Q9BT81
geneSymbol: SOX7
reactome: R-HSA-3769402;
name: Transcription factor SOX-7
length: 388
go: ENSG00000171056;ENSG00000258724;
sequence:

opentargets:
cytoplasm [GO:0005737]; nuclear transcription factor complex [GO:0044798]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; DNA-binding transcription factor activity [GO:0003700]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; sequence-specific DNA binding [GO:0043565]; transcription factor activity, RNA polymerase II distal enhancer sequence-specific binding [GO:0003705]; transcription regulatory region DNA binding [GO:0044212]; cell differentiation [GO:0030154]; endoderm formation [GO:0001706]; negative regulation of cell proliferation [GO:0008285]; negative regulation of transcription by RNA polymerase II [GO:0000122]; negative regulation of transcription, DNA-templated [GO:0045892]; positive regulation of cysteine-type endopeptidase activity involved in apoptotic process [GO:0043280]; positive regulation of transcription, DNA-templated [GO:0045893]; regulation of canonical Wnt signaling pathway [GO:0060828]; regulation of transcription, DNA-templated [GO:0006355]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9BT81-1; Sequence=Displayed; Name=2; IsoId=Q9BT81-2; Sequence=VSP_056667; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000255|PROSITE-ProRule:PRU00267}. Cytoplasm {ECO:0000269|PubMed:18819930}.


uniprotID: P57073
geneSymbol: SOX8
name: Transcription factor SOX-8
length: 446
go: ENSG00000005513;
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000255|PROSITE-ProRule:PRU00267}.
sequence:

opentargets:
cytoplasm [GO:0005737]; nuclear transcription factor complex [GO:0044798]; nucleus [GO:0005634]; DNA binding [GO:0003677]; DNA-binding transcription activator activity, RNA polymerase II-specific [GO:0001228]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; protein heterodimerization activity [GO:0046982]; RNA polymerase II core promoter sequence-specific DNA binding [GO:0000979]; transcription factor binding [GO:0008134]; adipose tissue development [GO:0060612]; astrocyte fate commitment [GO:0060018]; cell fate commitment [GO:0045165]; cell maturation [GO:0048469]; central nervous system development [GO:0007417]; enteric nervous system development [GO:0048484]; fat cell differentiation [GO:0045444]; in utero embryonic development [GO:0001701]; male gonad development [GO:0008584]; metanephric nephron tubule formation [GO:0072289]; morphogenesis of a branching epithelium [GO:0061138]; morphogenesis of an epithelium [GO:0002009]; negative regulation of apoptotic process [GO:0043066]; negative regulation of myoblast differentiation [GO:0045662]; negative regulation of photoreceptor cell differentiation [GO:0046533]; negative regulation of transcription, DNA-templated [GO:0045892]; neural crest cell migration [GO:0001755]; oligodendrocyte differentiation [GO:0048709]; osteoblast differentiation [GO:0001649]; peripheral nervous system development [GO:0007422]; positive regulation of branching involved in ureteric bud morphogenesis [GO:0090190]; positive regulation of gliogenesis [GO:0014015]; positive regulation of kidney development [GO:0090184]; positive regulation of osteoblast proliferation [GO:0033690]; positive regulation of transcription by RNA polymerase II [GO:0045944]; positive regulation of transcription, DNA-templated [GO:0045893]; regulation of hormone levels [GO:0010817]; renal vesicle induction [GO:0072034]; retina development in camera-type eye [GO:0060041]; retinal rod cell differentiation [GO:0060221]; Sertoli cell development [GO:0060009]; signal transduction [GO:0007165]; skeletal muscle cell differentiation [GO:0035914]; spermatogenesis [GO:0007283]; ureter morphogenesis [GO:0072197]


uniprotID: O76070
geneSymbol: SNCG
name: Gamma-synuclein (Breast cancer-specific gene 1 protein) (Persyn) (Synoretin) (SR)
length: 127
go: ENSG00000173267;
snps: rs9864
sequence:
MDVFKKGFSIAKEGVVGAVEKTKQGVTEAAEKTKEGVMYVGAKTKENVVQSVTSVAEKTKEQANAVSEAVVSSVNTVATKTVEEAENIAVTSGVVRKEDLRPSAPQQEGEASKEKEEVAEEAQSGGD

opentargets:
axon [GO:0030424]; cytoplasm [GO:0005737]; extracellular exosome [GO:0070062]; microtubule organizing center [GO:0005815]; neuronal cell body [GO:0043025]; perinuclear region of cytoplasm [GO:0048471]; spindle [GO:0005819]; adult locomotory behavior [GO:0008344]; chemical synaptic transmission [GO:0007268]; protein secretion [GO:0009306]; regulation of dopamine secretion [GO:0014059]; regulation of neurotransmitter secretion [GO:0046928]; synapse organization [GO:0050808]

location:
SUBCELLULAR LOCATION: Cytoplasm, perinuclear region {ECO:0000269|PubMed:11746666}. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome {ECO:0000269|PubMed:11746666}. Cytoplasm, cytoskeleton, spindle {ECO:0000269|PubMed:11746666}. Note=Associated with centrosomes in several interphase cells. In mitotic cells, localized to the poles of the spindle.


uniprotID: P26640
geneSymbol: VARS
reactome: R-HSA-379716;
name: Valine--tRNA ligase (EC 6.1.1.9) (Protein G7a) (Valyl-tRNA synthetase) (ValRS)
length: 1264
go: ENSG00000204394;
drug: DB00161;
snps: rs2607015 rs2753960 rs35196751 rs11531 rs1076827 rs769369302
sequence:

opentargets:
cytosol [GO:0005829]; aminoacyl-tRNA editing activity [GO:0002161]; ATP binding [GO:0005524]; valine-tRNA ligase activity [GO:0004832]; tRNA aminoacylation for protein translation [GO:0006418]; valyl-tRNA aminoacylation [GO:0006438]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P26640-1; Sequence=Displayed; Name=2; IsoId=P26640-2; Sequence=VSP_056480, VSP_056481, VSP_056482; Note=No experimental confirmation available.; 


uniprotID: Q9HB58
geneSymbol: SP110
length: 689
go: ENSG00000135899;
name:
Sp110 nuclear body protein (Interferon-induced protein 41/75) (Speckled 110 kDa) (Transcriptional coactivator Sp110)

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]; viral process [GO:0016032]

snps:
rs200067258 rs1129411 rs11556887 rs41552315 rs28930679 rs9061 rs1063154 rs1047254 rs3769838 rs1129425 rs1365776 rs59573011 rs3948464 rs1135791 rs3948463 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=7;  Name=1; IsoId=Q9HB58-1; Sequence=Displayed; Name=2; Synonyms=IFI75, 75; IsoId=Q9HB58-2; Sequence=VSP_005992, VSP_006001, VSP_006002; Name=3; Synonyms=Sp110b; IsoId=Q9HB58-3; Sequence=VSP_005997, VSP_006000; Name=4; Synonyms=IFI41, 41; IsoId=Q9HB58-4; Sequence=VSP_005991, VSP_005994, VSP_005995, VSP_005997, VSP_006000; Name=5; IsoId=Q9HB58-5; Sequence=VSP_005996, VSP_005997, VSP_006000; Name=6; IsoId=Q9HB58-6; Sequence=VSP_035593; Name=7; IsoId=Q9HB58-7; Sequence=VSP_046079, VSP_005997, VSP_006000; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000255|PROSITE-ProRule:PRU00185, ECO:0000255|PROSITE-ProRule:PRU00747, ECO:0000269|PubMed:10913195}. Note=Found in the nuclear body.


uniprotID: Q13342
geneSymbol: SP140
pdb: 2MD7;2MD8;6G8R;
length: 867
go: ENSG00000079263;
snps: rs3820975 rs4972945 rs4972946 rs11887179
name:
Nuclear body protein SP140 (Lymphoid-restricted homolog of Sp100) (LYSp100) (Nuclear autoantigen Sp-140) (Speckled 140 kDa)

sequence:

opentargets:
fibrillar center [GO:0001650]; mitochondrion [GO:0005739]; nuclear envelope [GO:0005635]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; PML body [GO:0016605]; DNA binding [GO:0003677]; DNA-binding transcription factor activity [GO:0003700]; metal ion binding [GO:0046872]; defense response [GO:0006952]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=6;  Name=LYSp100-B {ECO:0000303|PubMed:8695863}; IsoId=Q13342-1; Sequence=Displayed; Name=LYSp100-A {ECO:0000303|PubMed:8695863}; IsoId=Q13342-2; Sequence=VSP_000560, VSP_000561, VSP_000562; Name=Sp140 {ECO:0000303|PubMed:8695863}; IsoId=Q13342-3; Sequence=VSP_055922, VSP_000558, VSP_000559; Name=4; IsoId=Q13342-4; Sequence=VSP_043235, VSP_043236; Note=No experimental confirmation available.; Name=5; IsoId=Q13342-5; Sequence=VSP_055924; Note=No experimental confirmation available.; Name=6; IsoId=Q13342-6; Sequence=VSP_055923, VSP_000560; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:8695863, ECO:0000269|PubMed:8910577}. Nucleus, PML body {ECO:0000269|PubMed:8695863, ECO:0000269|PubMed:8910577}. Cytoplasm {ECO:0000269|PubMed:8695863}. Note=Localized to nuclear structures termed LANDS, for LYSp100-associated nuclear domains. LANDS are globular, electron-dense structures most often found in the nucleoplasm, but also found at the nuclear membrane and in the cytoplasm, suggesting that these structures may traffic between the cytoplasm and the nucleus (PubMed:8695863). Also colocalizes with PML in a subset of PML nuclear bodies (PubMed:8910577). {ECO:0000269|PubMed:8695863, ECO:0000269|PubMed:8910577}.


uniprotID: Q9H930
geneSymbol: SP140L
name: Nuclear body protein SP140-like protein
length: 580
go: ENSG00000185404;
snps: rs4973318 rs28497362 rs7590429
sequence:

opentargets:
nuclear body [GO:0016604]; DNA binding [GO:0003677]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; metal ion binding [GO:0046872]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=4; IsoId=Q9H930-4; Sequence=Displayed; Name=1; IsoId=Q9H930-1; Sequence=VSP_040889; Name=2; IsoId=Q9H930-2; Sequence=VSP_031833; Note=No experimental confirmation available.; Name=3; IsoId=Q9H930-3; Sequence=VSP_031830, VSP_031831, VSP_031832; Note=No experimental confirmation available.; 


uniprotID: Q9UGM6
geneSymbol: WARS2
reactome: R-HSA-379726;
pdb: 5EKD;
length: 360
go: ENSG00000116874;
drug: DB00150;
snps: rs139548132 rs11552864 rs766501807 rs3790549 rs145867327 rs563341344 rs17023101
location: SUBCELLULAR LOCATION: Mitochondrion matrix {ECO:0000269|PubMed:28236339}.
name:
Tryptophan--tRNA ligase, mitochondrial (EC 6.1.1.2) ((Mt)TrpRS) (Tryptophanyl-tRNA synthetase) (TrpRS)

sequence:

opentargets:
mitochondrial matrix [GO:0005759]; mitochondrion [GO:0005739]; plasma membrane [GO:0005886]; ATP binding [GO:0005524]; tryptophan-tRNA ligase activity [GO:0004830]; mitochondrial tryptophanyl-tRNA aminoacylation [GO:0070183]; tRNA aminoacylation for protein translation [GO:0006418]; tryptophanyl-tRNA aminoacylation [GO:0006436]; vasculogenesis [GO:0001570]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9UGM6-1; Sequence=Displayed; Name=2; IsoId=Q9UGM6-2; Sequence=VSP_041414, VSP_041415; 


uniprotID: Q6BEB4
geneSymbol: SP5
name: Transcription factor Sp5
length: 398
go: ENSG00000204335;
snps: rs3749036
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000250}.
sequence:

opentargets:
nucleus [GO:0005634]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; metal ion binding [GO:0046872]; RNA polymerase II regulatory region sequence-specific DNA binding [GO:0000977]; bone morphogenesis [GO:0060349]; cellular response to organic cyclic compound [GO:0071407]; negative regulation of transcription by RNA polymerase II [GO:0000122]; post-anal tail morphogenesis [GO:0036342]; regulation of transcription by RNA polymerase II [GO:0006357]


uniprotID: Q3SY00
geneSymbol: TSGA10IP
name: Testis-specific protein 10-interacting protein (Tsga10-interacting protein)
length: 556
go: ENSG00000175513;
opentargets: photoreceptor connecting cilium [GO:0032391]; cilium organization [GO:0044782]
snps: rs565921 rs7927388 rs7927826 rs7927841 rs491973
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q3SY00-1; Sequence=Displayed; Name=2; IsoId=Q3SY00-2; Sequence=VSP_033196, VSP_033197; Note=No experimental confirmation available.; 


uniprotID: Q9NUJ3
geneSymbol: TCP11L1
name: T-complex protein 11-like protein 1
length: 509
go: ENSG00000176148;
opentargets: microtubule [GO:0005874]
snps: rs16923785 rs2273549
sequence:


uniprotID: Q8N4U5
geneSymbol: TCP11L2
name: T-complex protein 11-like protein 2
length: 519
go: ENSG00000166046;
snps: rs4964460 rs11837375 rs17218950
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q8N4U5-1; Sequence=Displayed; Name=2; IsoId=Q8N4U5-2; Sequence=VSP_055736, VSP_055737; Note=Gene prediction based on EST data.; 


uniprotID: Q07617
geneSymbol: SPAG1
name: Sperm-associated antigen 1 (HSD-3.8) (Infertility-related sperm protein Spag-1)
length: 926
go: ENSG00000104450;
snps: rs17335870 rs6511 rs6510
sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; GTP binding [GO:0005525]; hydrolase activity [GO:0016787]; axonemal dynein complex assembly [GO:0070286]; single fertilization [GO:0007338]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q07617-1; Sequence=Displayed; Name=2; IsoId=Q07617-2; Sequence=VSP_054290, VSP_054291; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:11517287, ECO:0000269|PubMed:16983343}. Note=Colocalizes with tubulin.


uniprotID: Q9NPE6
geneSymbol: SPAG4
length: 437
go: ENSG00000061656;
name:
Sperm-associated antigen 4 protein (Outer dense fiber-associated protein SPAG4) (SUN domain-containing protein 4)

sequence:

opentargets:
cytoplasm [GO:0005737]; cytoskeleton [GO:0005856]; integral component of membrane [GO:0016021]; meiotic nuclear membrane microtubule tethering complex [GO:0034993]; motile cilium [GO:0031514]; nuclear envelope [GO:0005635]; nuclear inner membrane [GO:0005637]; protein membrane anchor [GO:0043495]; structural molecule activity [GO:0005198]; cell differentiation [GO:0030154]; cytoskeletal anchoring at nuclear membrane [GO:0090286]; nuclear envelope organization [GO:0006998]; spermatogenesis [GO:0007283]

location:
SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Multi-pass membrane protein {ECO:0000305}. Cytoplasm, cytoskeleton {ECO:0000250|UniProtKB:O55034}. Cytoplasm, cytoskeleton, flagellum axoneme {ECO:0000250|UniProtKB:O55034}. Nucleus envelope {ECO:0000250|UniProtKB:Q9JJF2}. Nucleus inner membrane {ECO:0000250|UniProtKB:Q9JJF2}. Note=In spermatids, it is localized in the transient manchette and in the axoneme of elongating spermatids and epididymal sperm (By similarity). Colocalized with SEPT12 at the nuclear periphery in round spermatids, at sperm neck in elongated spermatids and at midpiece regions in ejaculated spermatozoa (PubMed:25775403). {ECO:0000250|UniProtKB:O55034, ECO:0000269|PubMed:25775403}.


uniprotID: Q96R06
geneSymbol: SPAG5
name: Sperm-associated antigen 5 (Astrin) (Deepest) (Mitotic spindle-associated protein p126) (MAP126)
length: 1193
go: ENSG00000076382;
sequence:

opentargets:
centriolar satellite [GO:0034451]; condensed chromosome kinetochore [GO:0000777]; cytoplasm [GO:0005737]; kinetochore [GO:0000776]; microtubule plus-end [GO:0035371]; midbody [GO:0030496]; mitotic spindle [GO:0072686]; mitotic spindle pole [GO:0097431]; microtubule binding [GO:0008017]; cell division [GO:0051301]; chromosome segregation [GO:0007059]; mitotic sister chromatid segregation [GO:0000070]; positive regulation of intracellular transport [GO:0032388]; positive regulation of spindle assembly [GO:1905832]; protein localization to centrosome [GO:0071539]; regulation of attachment of spindle microtubules to kinetochore [GO:0051988]; regulation of metaphase plate congression [GO:0090235]; spindle organization [GO:0007051]

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:27462074}. Cytoplasm, cytoskeleton {ECO:0000269|PubMed:27462074}. Cytoplasm, cytoskeleton, spindle {ECO:0000269|PubMed:27462074}. Cytoplasm, cytoskeleton, spindle pole {ECO:0000269|PubMed:27462074}. Chromosome, centromere, kinetochore {ECO:0000269|PubMed:27462074}. Midbody. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome. Cytoplasmic granule. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome, centriolar satellite {ECO:0000269|PubMed:26297806}. Note=Colocalizes with PCM1 at centriolar satellites throughout the cell cycle (PubMed:26297806). In a punctate pattern in interphase cells. During mitosis, detected at spindle poles during prophase, throughout the spindle in metaphase and anaphase, and at midzone microtubules in anaphase and telophase (PubMed:27462074). Efficient targeting to the mitotic spindle may depend upon phosphorylation by GSK3B. Detected on kinetochores of chromosomes that have congressed. The astrin (SPAG5)-kinastrin (SKAP) complex localizes to the microtubule plus ends (By similarity). In non-mitotic non-stressed cells, shows a microtubuli pattern. In arsenite-stressed cells, accumulates in stress granules. {ECO:0000250, ECO:0000269|PubMed:26297806, ECO:0000269|PubMed:27462074}.


uniprotID: A0PK00
geneSymbol: TMEM120B
name: Transmembrane protein 120B
length: 339
go: ENSG00000188735;
sequence:

opentargets:
integral component of membrane [GO:0016021]; nuclear inner membrane [GO:0005637]; fat cell differentiation [GO:0045444]; protein heterooligomerization [GO:0051291]

location:
SUBCELLULAR LOCATION: Nucleus inner membrane {ECO:0000250|UniProtKB:Q3TA38}; Multi-pass membrane protein {ECO:0000255}.


uniprotID: Q9BXQ6
geneSymbol: TMEM121B
name: Transmembrane protein 121B (Cat eye syndrome critical region protein 6)
length: 578
go: ENSG00000183307;
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9BXQ6-1; Sequence=Displayed; Name=2; IsoId=Q9BXQ6-2; Sequence=VSP_045398; Note=No experimental confirmation available.; 


uniprotID: Q8N0X7
geneSymbol: SPART
pdb: 2DL1;4U7I;
name: Spartin (Spastic paraplegia 20 protein) (Trans-activated by hepatitis C virus core protein 1)
length: 666
go: ENSG00000133104;
sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; lipid droplet [GO:0005811]; midbody [GO:0030496]; mitochondrial outer membrane [GO:0005741]; plasma membrane [GO:0005886]; synapse [GO:0045202]; ubiquitin protein ligase binding [GO:0031625]; abscission [GO:0009838]; adipose tissue development [GO:0060612]; cell division [GO:0051301]; lipid droplet organization [GO:0034389]; negative regulation of BMP signaling pathway [GO:0030514]; negative regulation of collateral sprouting in absence of injury [GO:0048698]; neuromuscular process [GO:0050905]; regulation of mitochondrial membrane potential [GO:0051881]

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:19580544}. Midbody {ECO:0000269|PubMed:20719964}. Note=Transiently associated with endosomes (PubMed:19580544). Colocalized with IST1 to the ends of Flemming bodies during cytokinesis (PubMed:20719964). {ECO:0000269|PubMed:19580544, ECO:0000269|PubMed:20719964}.


uniprotID: A6NKU9
geneSymbol: SPDYE3
name: Speedy protein E3
length: 549
opentargets: protein kinase binding [GO:0019901]
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=A6NKU9-1; Sequence=Displayed; Name=2; IsoId=A6NKU9-2; Sequence=VSP_040737; 


uniprotID: O95238
geneSymbol: SPDEF
pdb: 1YO5;2DKX;
length: 335
go: ENSG00000124664;
snps: rs2233639
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000305}.
name:
SAM pointed domain-containing Ets transcription factor (Prostate epithelium-specific Ets transcription factor) (Prostate-specific Ets) (Prostate-derived Ets factor)

sequence:

opentargets:
nucleus [GO:0005634]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; DNA-binding transcription repressor activity, RNA polymerase II-specific [GO:0001227]; sequence-specific DNA binding [GO:0043565]; cell differentiation [GO:0030154]; intestinal epithelial cell development [GO:0060576]; lung goblet cell differentiation [GO:0060480]; multicellular organism development [GO:0007275]; negative regulation of cell fate commitment [GO:0010454]; negative regulation of transcription by RNA polymerase II [GO:0000122]; positive regulation of apoptotic process [GO:0043065]; positive regulation of cell fate commitment [GO:0010455]; positive regulation of transcription by RNA polymerase II [GO:0045944]; regulation of transcription by RNA polymerase II [GO:0006357]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=O95238-1; Sequence=Displayed; Name=2; IsoId=O95238-2; Sequence=VSP_044722; Note=No experimental confirmation available.; 


uniprotID: Q9UIV8
geneSymbol: SERPINB13
reactome: R-HSA-8939242;
length: 391
go: ENSG00000197641;
snps: rs1020694
location: SUBCELLULAR LOCATION: Cytoplasm.
name:
Serpin B13 (HaCaT UV-repressible serpin) (Hurpin) (Headpin) (Peptidase inhibitor 13) (PI-13) (Proteinase inhibitor 13)

sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; extracellular exosome [GO:0070062]; extracellular space [GO:0005615]; lysosomal lumen [GO:0043202]; nuclear speck [GO:0016607]; nucleoplasm [GO:0005654]; cysteine-type endopeptidase inhibitor activity [GO:0004869]; protease binding [GO:0002020]; serine-type endopeptidase inhibitor activity [GO:0004867]; negative regulation of endopeptidase activity [GO:0010951]; negative regulation of keratinocyte apoptotic process [GO:1902173]; regulation of keratinocyte differentiation [GO:0045616]; regulation of proteolysis [GO:0030162]; response to UV [GO:0009411]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9UIV8-1; Sequence=Displayed; Name=2; IsoId=Q9UIV8-2; Sequence=VSP_006058; 


uniprotID: Q6IEE7
geneSymbol: TMEM132E
name: Transmembrane protein 132E
length: 984
go: ENSG00000181291;
opentargets: integral component of membrane [GO:0016021]
snps: rs139895222
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Single-pass type I membrane protein {ECO:0000305}.
sequence:


uniprotID: Q9BQI5
geneSymbol: SGIP1
reactome: R-HSA-8856825;R-HSA-8856828;
pdb: 5AWR;5AWS;5AWT;5AWU;6A9Y;
name: SH3-containing GRB2-like protein 3-interacting protein 1 (Endophilin-3-interacting protein)
length: 828
go: ENSG00000118473;
snps: rs17490057 rs7526812 rs17855645 rs17854026
sequence:

opentargets:
AP-2 adaptor complex [GO:0030122]; clathrin-coated pit [GO:0005905]; clathrin-coated vesicle [GO:0030136]; cytoplasm [GO:0005737]; cytoskeleton [GO:0005856]; cytosol [GO:0005829]; plasma membrane [GO:0005886]; cytoskeletal protein binding [GO:0008092]; microtubule binding [GO:0008017]; phospholipid binding [GO:0005543]; SH3 domain binding [GO:0017124]; tubulin binding [GO:0015631]; clathrin coat assembly [GO:0048268]; clathrin-dependent endocytosis [GO:0072583]; energy homeostasis [GO:0097009]; membrane organization [GO:0061024]; plasma membrane tubulation [GO:0097320]; positive regulation of feeding behavior [GO:2000253]; positive regulation of receptor-mediated endocytosis [GO:0048260]; response to dietary excess [GO:0002021]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=5;  Name=1; IsoId=Q9BQI5-1; Sequence=Displayed; Name=2; IsoId=Q9BQI5-2; Sequence=VSP_020274; Name=3; IsoId=Q9BQI5-3; Sequence=VSP_020274, VSP_020277; Note=No experimental confirmation available.; Name=4; IsoId=Q9BQI5-4; Sequence=VSP_020273, VSP_020275, VSP_020276; Name=5; IsoId=Q9BQI5-5; Sequence=VSP_020273, VSP_020275, VSP_020276, VSP_020278; 

location:
SUBCELLULAR LOCATION: Membrane, clathrin-coated pit {ECO:0000305|PubMed:20946875}; Peripheral membrane protein {ECO:0000305|PubMed:20946875}; Cytoplasmic side {ECO:0000305|PubMed:20946875}.


uniprotID: Q96LD1
geneSymbol: SGCZ
name: Zeta-sarcoglycan (Zeta-SG) (ZSG1)
length: 299
go: ENSG00000185053;
sequence:

opentargets:
cytoplasm [GO:0005737]; cytoskeleton [GO:0005856]; integral component of membrane [GO:0016021]; sarcoglycan complex [GO:0016012]; sarcolemma [GO:0042383]; heart contraction [GO:0060047]; membrane organization [GO:0061024]; muscle cell cellular homeostasis [GO:0046716]; muscle cell development [GO:0055001]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q96LD1-1; Sequence=Displayed; Name=2; IsoId=Q96LD1-2; Sequence=VSP_037410; Note=No experimental confirmation available.; 

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


uniprotID: Q6P4A7
geneSymbol: SFXN4
name: Sideroflexin-4 (Breast cancer resistance marker 1)
length: 337
go: ENSG00000183605;
sequence:

opentargets:
integral component of membrane [GO:0016021]; intracellular membrane-bounded organelle [GO:0043231]; mitochondrial inner membrane [GO:0005743]; ion transmembrane transporter activity [GO:0015075]; iron ion homeostasis [GO:0055072]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q6P4A7-1; Sequence=Displayed; Name=2; IsoId=Q6P4A7-2; Sequence=VSP_014609, VSP_014610; Note=No experimental confirmation available.; Name=3; IsoId=Q6P4A7-3; Sequence=VSP_014608; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Mitochondrion inner membrane {ECO:0000269|PubMed:24119684}; Multi-pass membrane protein {ECO:0000269|PubMed:24119684}.


uniprotID: Q16585
geneSymbol: SGCB
name: Beta-sarcoglycan (Beta-SG) (43 kDa dystrophin-associated glycoprotein) (43DAG) (A3b)
length: 318
go: ENSG00000163069;
sequence:

opentargets:
cytoplasm [GO:0005737]; cytoskeleton [GO:0005856]; dystrophin-associated glycoprotein complex [GO:0016010]; integral component of plasma membrane [GO:0005887]; sarcoglycan complex [GO:0016012]; sarcolemma [GO:0042383]; cardiac muscle cell development [GO:0055013]; muscle fiber development [GO:0048747]; muscle organ development [GO:0007517]; vascular smooth muscle cell development [GO:0097084]

snps:
rs752492870 rs555514820 rs104893869 rs104893869 rs104893871 rs104893870 rs150518260 rs762412447 rs28936383 rs779516489 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q16585-1; Sequence=Displayed; Name=2; IsoId=Q16585-2; Sequence=VSP_056894; Note=No experimental confirmation available.; 

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


uniprotID: Q6PDA7
geneSymbol: SPAG11A
length: 123
go: ENSG00000178287;
opentargets: extracellular region [GO:0005576]; defense response to bacterium [GO:0042742]
snps: rs3177011
location: SUBCELLULAR LOCATION: Secreted.
name:
Sperm-associated antigen 11A (Human epididymis-specific protein 2) (He2) (Protein EP2) (Sperm antigen HE2)

sequence:
MRQRLLPSVTSLLLVALLFPGSSQARHVNHSATEALGELRERAPGQGTNGFQLLRHAVKRDLLPPRTPPYQVHISHQEARGPSFKICVGFLGPRWARGCSTGNEKYHLPYAARDLQTFFLPFW

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; Synonyms=HE2 alpha1; IsoId=Q6PDA7-1; Sequence=Displayed; Name=2; Synonyms=EP2G, HE2 beta2; IsoId=Q6PDA7-2; Sequence=VSP_030220; Name=3; Synonyms=EP2H, HE2 gamma1; IsoId=Q6PDA7-3; Sequence=VSP_030221; Name=4; Synonyms=EP2I, HE2 gamma2; IsoId=Q6PDA7-4; Sequence=VSP_030222, VSP_030223; 


uniprotID: Q92629
geneSymbol: SGCD
name: Delta-sarcoglycan (Delta-SG) (35 kDa dystrophin-associated glycoprotein) (35DAG)
length: 289
go: ENSG00000170624;
snps: rs45559835 rs121909298 rs121909297
sequence:

opentargets:
cytoplasm [GO:0005737]; cytoskeleton [GO:0005856]; dystrophin-associated glycoprotein complex [GO:0016010]; integral component of membrane [GO:0016021]; plasma membrane [GO:0005886]; sarcoglycan complex [GO:0016012]; sarcolemma [GO:0042383]; heart contraction [GO:0060047]; muscle organ development [GO:0007517]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q92629-1; Sequence=Displayed; Name=2; IsoId=Q92629-2; Sequence=VSP_039245; Name=3; IsoId=Q92629-3; Sequence=VSP_039245, VSP_039246, VSP_039247; 

location:
SUBCELLULAR LOCATION: Cell membrane, sarcolemma; Single-pass type II membrane protein. Cytoplasm, cytoskeleton.


uniprotID: O43765
geneSymbol: SGTA
pdb: 2VYI;4CPG;4GOD;4GOE;4GOF;
length: 313
go: ENSG00000104969;
name:
Small glutamine-rich tetratricopeptide repeat-containing protein alpha (Alpha-SGT) (Vpu-binding protein) (UBP)

sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; extrinsic component of synaptic vesicle membrane [GO:0098850]; membrane [GO:0016020]; nucleus [GO:0005634]; TRC complex [GO:0072380]; BAT3 complex binding [GO:1904288]; identical protein binding [GO:0042802]; protein self-association [GO:0043621]; protein-containing complex scaffold activity [GO:0032947]; chaperone-mediated protein folding [GO:0061077]; negative regulation of ER-associated ubiquitin-dependent protein catabolic process [GO:1903070]; negative regulation of ubiquitin-dependent protein catabolic process [GO:2000059]; positive regulation of chaperone-mediated protein folding [GO:1903646]; positive regulation of ER-associated ubiquitin-dependent protein catabolic process [GO:1903071]; posttranslational protein targeting to endoplasmic reticulum membrane [GO:0006620]; tail-anchored membrane protein insertion into ER membrane [GO:0071816]; ubiquitin-dependent ERAD pathway [GO:0030433]; viral process [GO:0016032]

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:16580629}. Nucleus {ECO:0000269|PubMed:16580629}. Note=Co-localizes with HSP90AB1 in the cytoplasm. Increased nuclear accumulation seen during cell apoptosis. {ECO:0000269|PubMed:16580629}.


uniprotID: Q7M4L6
geneSymbol: SHF
name: SH2 domain-containing adapter protein F
length: 423
go: ENSG00000138606;
opentargets: phosphotyrosine residue binding [GO:0001784]; apoptotic process [GO:0006915]
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1 {ECO:0000269|PubMed:11095946}; IsoId=Q7M4L6-1; Sequence=Displayed; Name=2 {ECO:0000269|PubMed:15489334}; IsoId=Q7M4L6-2; Sequence=VSP_052699; Note=No experimental confirmation available. {ECO:0000305}; 


uniprotID: Q9UPX8
geneSymbol: SHANK2
reactome: R-HSA-6794361;
length: 1470
go: ENSG00000162105;
name:
SH3 and multiple ankyrin repeat domains protein 2 (Shank2) (Cortactin-binding protein 1) (CortBP1) (Proline-rich synapse-associated protein 1)

sequence:

opentargets:
apical plasma membrane [GO:0016324]; brush border membrane [GO:0031526]; cell junction [GO:0030054]; ciliary membrane [GO:0060170]; cytosol [GO:0005829]; dendrite [GO:0030425]; dendritic spine [GO:0043197]; growth cone [GO:0030426]; neuron projection [GO:0043005]; neuron spine [GO:0044309]; neuronal cell body [GO:0043025]; photoreceptor inner segment [GO:0001917]; photoreceptor outer segment [GO:0001750]; plasma membrane [GO:0005886]; postsynaptic density [GO:0014069]; postsynaptic membrane [GO:0045211]; GKAP/Homer scaffold activity [GO:0030160]; ionotropic glutamate receptor binding [GO:0035255]; receptor signaling complex scaffold activity [GO:0030159]; SH3 domain binding [GO:0017124]; adult behavior [GO:0030534]; brain morphogenesis [GO:0048854]; dendritic spine morphogenesis [GO:0060997]; learning [GO:0007612]; long-term synaptic depression [GO:0060292]; long-term synaptic potentiation [GO:0060291]; positive regulation of dendritic spine development [GO:0060999]; positive regulation of excitatory postsynaptic potential [GO:2000463]; positive regulation of synaptic transmission, glutamatergic [GO:0051968]; postsynaptic density assembly [GO:0097107]; regulation of AMPA receptor activity [GO:2000311]; social behavior [GO:0035176]; synapse assembly [GO:0007416]; synaptic growth at neuromuscular junction [GO:0051124]; vocalization behavior [GO:0071625]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Comment=Additional isoforms seem to exist.; Name=1; Synonyms=A; IsoId=Q9UPX8-1; Sequence=Displayed; Name=2; Synonyms=C; IsoId=Q9UPX8-2; Sequence=VSP_037793, VSP_037795, VSP_037797, VSP_037798; Name=3; Synonyms=E; IsoId=Q9UPX8-3; Sequence=VSP_037794; Note=Contains 6 ANK repeats at positions 196-226, 230-259, 263-293, 297-326, 330-359, 363-393.; Name=4; Synonyms=B; IsoId=Q9UPX8-4; Sequence=VSP_037793, VSP_037795, VSP_037796; 

location:
SUBCELLULAR LOCATION: Apical cell membrane {ECO:0000250}. Cytoplasm {ECO:0000250}. Cell junction, synapse {ECO:0000250}. Cell junction, synapse, postsynaptic cell membrane, postsynaptic density {ECO:0000250}. Cell projection, growth cone {ECO:0000250}. Cell projection, dendritic spine {ECO:0000250}. Note=Colocalizes with cortactin in growth cones in differentiating hippocampal neurons. Colocalized with PDE4D to the apical membrane of colonic crypt cells (By similarity). {ECO:0000250}.


uniprotID: Q9Y371
geneSymbol: SH3GLB1
name: Endophilin-B1 (Bax-interacting factor 1) (Bif-1) (SH3 domain-containing GRB2-like protein B1)
length: 365
go: ENSG00000097033;
sequence:

opentargets:
autophagosome membrane [GO:0000421]; cytoplasm [GO:0005737]; cytoplasmic vesicle [GO:0031410]; cytosol [GO:0005829]; Golgi membrane [GO:0000139]; midbody [GO:0030496]; mitochondrial outer membrane [GO:0005741]; cadherin binding [GO:0045296]; identical protein binding [GO:0042802]; lipid binding [GO:0008289]; protein homodimerization activity [GO:0042803]; apoptotic process [GO:0006915]; autophagic cell death [GO:0048102]; autophagy [GO:0006914]; cellular response to amino acid starvation [GO:0034198]; cellular response to glucose starvation [GO:0042149]; membrane fission [GO:0090148]; positive regulation of autophagosome assembly [GO:2000786]; positive regulation of autophagy [GO:0010508]; positive regulation of membrane tubulation [GO:1903527]; positive regulation of protein oligomerization [GO:0032461]; positive regulation of protein targeting to mitochondrion [GO:1903955]; protein complex oligomerization [GO:0051259]; protein localization to vacuolar membrane [GO:1903778]; receptor catabolic process [GO:0032801]; regulation of cytokinesis [GO:0032465]; regulation of macroautophagy [GO:0016241]; regulation of protein stability [GO:0031647]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Comment=Additional isoforms seem to exist.; Name=1; IsoId=Q9Y371-1; Sequence=Displayed; Name=2; IsoId=Q9Y371-2; Sequence=VSP_009276; Name=3; IsoId=Q9Y371-3; Sequence=VSP_044895; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:15452144}. Golgi apparatus membrane {ECO:0000269|PubMed:21068542}; Peripheral membrane protein {ECO:0000250}. Mitochondrion outer membrane {ECO:0000269|PubMed:15452144}; Peripheral membrane protein {ECO:0000269|PubMed:15452144}. Cytoplasmic vesicle, autophagosome membrane {ECO:0000269|PubMed:17891140}. Midbody {ECO:0000269|PubMed:20643123}. Note=Association with the Golgi apparatus depends on the cell type (By similarity). Following starvation colocalizes with ATG5 and LC3 autophagy-related protein(s)on autophagosomal membranes (PubMed:17891140). {ECO:0000250, ECO:0000269|PubMed:17891140}.


uniprotID: Q9BTD1
geneSymbol: SHANK2-AS3
name: Putative uncharacterized protein SHANK2-AS3
length: 123
sequence:
MAQLPSAQMPAPRTQPDLILVHPVLALSGRAPSILCSVPWDACELLATAMWWKTRILWGVFLISRTRPPAPMQILILTLDPSEGEVCCKKRKPGQTGRNRVRMTTATCKPGGEASGETSPGTP


uniprotID: P04278
geneSymbol: SHBG
pdb: 1D2S;1F5F;1KDK;1KDM;1LHN;1LHO;1LHU;1LHV;1LHW;
length: 402
go: ENSG00000129214;
snps: rs9282845 rs6260 rs6258 rs6259
name:
Sex hormone-binding globulin (SHBG) (Sex steroid-binding protein) (SBP) (Testis-specific androgen-binding protein) (ABP) (Testosterone-estradiol-binding globulin) (TeBG) (Testosterone-estrogen-binding globulin)

sequence:

opentargets:
extracellular exosome [GO:0070062]; extracellular region [GO:0005576]; androgen binding [GO:0005497]; steroid binding [GO:0005496]

drug:
DB02342;DB01406;DB02901;DB00858;DB00783;DB04574;DB01185;DB00741;DB06710;DB00648;DB00717;DB06412;DB00421;DB00624;

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=5;  Comment=Additional isoforms seem to exist.; Name=1; Synonyms=SHBG, SHBGr-1; IsoId=P04278-1; Sequence=Displayed; Name=2; Synonyms=Sex hormone binding globulin-gene-related protein (SHBGgrp), SHBGr-2; IsoId=P04278-2; Sequence=VSP_006090, VSP_006091, VSP_006092; Note=Incomplete sequence.; Name=3; IsoId=P04278-3; Sequence=VSP_006091, VSP_006092; Note=No experimental confirmation available.; Name=4; IsoId=P04278-4; Sequence=VSP_045358; Name=5; IsoId=P04278-5; Sequence=VSP_045376; 

location:
SUBCELLULAR LOCATION: Secreted {ECO:0000250}. Note=In testis, it is synthesized by the Sertoli cells, secreted into the lumen of the seminiferous tubule and transported to the epididymis. {ECO:0000250}.


uniprotID: Q7Z6J0
geneSymbol: SH3RF1
reactome: R-HSA-983168;
length: 888
go: ENSG00000154447;
snps: rs3811813
name:
E3 ubiquitin-protein ligase SH3RF1 (EC 2.3.2.27) (Plenty of SH3s) (Protein POSH) (RING finger protein 142) (RING-type E3 ubiquitin transferase SH3RF1) (SH3 domain-containing RING finger protein 1) (SH3 multiple domains protein 2)

sequence:

opentargets:
cytosol [GO:0005829]; Golgi apparatus [GO:0005794]; lamellipodium [GO:0030027]; perinuclear region of cytoplasm [GO:0048471]; MAP-kinase scaffold activity [GO:0005078]; metal ion binding [GO:0046872]; ubiquitin protein ligase activity [GO:0061630]; apoptotic process [GO:0006915]; negative regulation of apoptotic process [GO:0043066]; negative regulation of cysteine-type endopeptidase activity involved in apoptotic process [GO:0043154]; negative regulation of extrinsic apoptotic signaling pathway [GO:2001237]; neuron migration [GO:0001764]; positive regulation of JNK cascade [GO:0046330]; protein autoubiquitination [GO:0051865]; regulation of CD4-positive, alpha-beta T cell differentiation [GO:0043370]; regulation of CD8-positive, alpha-beta T cell proliferation [GO:2000564]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q7Z6J0-1; Sequence=Displayed; Name=2; IsoId=Q7Z6J0-3; Sequence=VSP_033622, VSP_033623; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasm, perinuclear region {ECO:0000250|UniProtKB:Q71F54}. Cell projection, lamellipodium {ECO:0000250|UniProtKB:Q69ZI1}. Golgi apparatus, trans-Golgi network {ECO:0000269|PubMed:15659549, ECO:0000269|PubMed:17420289}. Note=Colocalizes, with AKT2, in lamellipodia (By similarity). Colocalizes, with HERP1, in trans-Golgi network. {ECO:0000250|UniProtKB:Q69ZI1, ECO:0000269|PubMed:17420289}.


uniprotID: Q6UWI4
geneSymbol: SHISA2
name: Protein shisa-2 homolog (Transmembrane protein 46)
length: 295
go: ENSG00000180730;
sequence:

opentargets:
endoplasmic reticulum [GO:0005783]; endoplasmic reticulum membrane [GO:0005789]; integral component of membrane [GO:0016021]; multicellular organism development [GO:0007275]; negative regulation of fibroblast growth factor receptor signaling pathway [GO:0040037]; negative regulation of Wnt signaling pathway [GO:0030178]

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


uniprotID: P29353
geneSymbol: SHC1
pdb: 1MIL;1N3H;1OY2;1QG1;1SHC;1TCE;1WCP;2L1C;4JMH;4XWX;5CZI;
length: 583
go: ENSG00000160691;
snps: rs8191981 rs8191979
reactome:
R-HSA-1236382;R-HSA-1250196;R-HSA-1250347;R-HSA-167044;R-HSA-180336;R-HSA-210993;R-HSA-2424491;R-HSA-2428933;R-HSA-2730905;R-HSA-2871796;R-HSA-2871809;R-HSA-354192;R-HSA-381038;R-HSA-512988;R-HSA-5637810;R-HSA-5654688;R-HSA-5654699;R-HSA-5654704;R-HSA-5654719;R-HSA-5673001;R-HSA-74749;R-HSA-74751;R-HSA-8851805;R-HSA-8853659;R-HSA-8983432;R-HSA-9020558;R-HSA-9026519;R-HSA-9034864;R-HSA-912526;R-HSA-983695;

name:
SHC-transforming protein 1 (SHC-transforming protein 3) (SHC-transforming protein A) (Src homology 2 domain-containing-transforming protein C1) (SH2 domain protein C1)

sequence:

opentargets:
cytosol [GO:0005829]; mitochondrial matrix [GO:0005759]; plasma membrane [GO:0005886]; Shc-EGFR complex [GO:0070435]; ephrin receptor binding [GO:0046875]; epidermal growth factor binding [GO:0048408]; epidermal growth factor receptor binding [GO:0005154]; insulin receptor binding [GO:0005158]; insulin-like growth factor receptor binding [GO:0005159]; neurotrophin TRKA receptor binding [GO:0005168]; phospholipid binding [GO:0005543]; phosphotyrosine residue binding [GO:0001784]; Ras guanyl-nucleotide exchange factor activity [GO:0005088]; receptor tyrosine kinase binding [GO:0030971]; transmembrane receptor protein tyrosine kinase adaptor activity [GO:0005068]; actin cytoskeleton reorganization [GO:0031532]; activation of MAPK activity [GO:0000187]; angiogenesis [GO:0001525]; axon guidance [GO:0007411]; cell-cell adhesion [GO:0098609]; cellular response to growth factor stimulus [GO:0071363]; cytokine-mediated signaling pathway [GO:0019221]; defense response to bacterium [GO:0042742]; epidermal growth factor receptor signaling pathway [GO:0007173]; ERBB2 signaling pathway [GO:0038128]; Fc-epsilon receptor signaling pathway [GO:0038095]; heart development [GO:0007507]; insulin receptor signaling pathway [GO:0008286]; interleukin-15-mediated signaling pathway [GO:0035723]; interleukin-2-mediated signaling pathway [GO:0038110]; IRE1-mediated unfolded protein response [GO:0036498]; leukocyte migration [GO:0050900]; MAPK cascade [GO:0000165]; negative regulation of angiogenesis [GO:0016525]; negative regulation of apoptotic process [GO:0043066]; negative regulation of transcription, DNA-templated [GO:0045892]; positive regulation of cell proliferation [GO:0008284]; positive regulation of cell proliferation in bone marrow [GO:0071864]; positive regulation of ERK1 and ERK2 cascade [GO:0070374]; positive regulation of MAPK cascade [GO:0043410]; positive regulation of transcription, DNA-templated [GO:0045893]; Ras protein signal transduction [GO:0007265]; regulation of epidermal growth factor-activated receptor activity [GO:0007176]; regulation of growth [GO:0040008]; regulation of superoxide metabolic process [GO:0090322]; viral process [GO:0016032]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative promoter usage, Alternative splicing; Named isoforms=6;  Name=p66Shc; IsoId=P29353-1; Sequence=Displayed; Note=Regulated by epigenetic modifications of its promoter region.; Name=p52Shc; IsoId=P29353-2; Sequence=VSP_016108; Name=p46Shc; IsoId=P29353-3; Sequence=VSP_016107; Name=5; IsoId=P29353-5; Sequence=VSP_040090, VSP_040091; Note=Produced by alternative splicing.; Name=6; IsoId=P29353-6; Sequence=VSP_040092; Note=Produced by alternative splicing.; Name=7; IsoId=P29353-7; Sequence=VSP_016108, VSP_040092; Note=Produced by alternative splicing. {ECO:0000244|PubMed:22814378}; 

location:
SUBCELLULAR LOCATION: Cytoplasm.; SUBCELLULAR LOCATION: Isoform p46Shc: Mitochondrion matrix {ECO:0000269|PubMed:14573619}. Note=Localized to the mitochondria matrix. Targeting of isoform p46Shc to mitochondria is mediated by its first 32 amino acids, which behave as a bona fide mitochondrial targeting sequence. Isoform p52Shc and isoform p66Shc, that contain the same sequence but more internally located, display a different subcellular localization.; SUBCELLULAR LOCATION: Isoform p66Shc: Mitochondrion {ECO:0000250}. Note=In case of oxidative conditions, phosphorylation at 'Ser-36' of isoform p66Shc, leads to mitochondrial accumulation. {ECO:0000250}.


uniprotID: A6NL88
geneSymbol: SHISA7
name: Protein shisa-7 (Protein shisa-6-like)
length: 538
go: ENSG00000187902;
sequence:

opentargets:
AMPA glutamate receptor complex [GO:0032281]; asymmetric, glutamatergic, excitatory synapse [GO:0098985]; cell junction [GO:0030054]; dendritic spine membrane [GO:0032591]; integral component of postsynaptic specialization membrane [GO:0099060]; postsynaptic density [GO:0014069]; postsynaptic membrane [GO:0045211]; synapse [GO:0045202]; ionotropic glutamate receptor binding [GO:0035255]; memory [GO:0007613]; positive regulation of long-term synaptic potentiation [GO:1900273]; regulation of AMPA glutamate receptor clustering [GO:1904717]; regulation of AMPA receptor activity [GO:2000311]; regulation of postsynaptic neurotransmitter receptor activity [GO:0098962]; regulation of short-term neuronal synaptic plasticity [GO:0048172]

location:
SUBCELLULAR LOCATION: Cell junction, synapse, postsynaptic cell membrane, postsynaptic density {ECO:0000250|UniProtKB:Q8C3Q5}; Single-pass type I membrane protein {ECO:0000250|UniProtKB:Q8C3Q5}.


uniprotID: Q6PI26
geneSymbol: SHQ1
pdb: 2MNW;4PBD;4PCK;
name: Protein SHQ1 homolog
length: 577
go: ENSG00000144736;
snps: rs17855677 rs35178407
sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; nucleoplasm [GO:0005654]; unfolded protein binding [GO:0051082]; box H/ACA snoRNP assembly [GO:0000493]; negative regulation of rRNA processing [GO:2000233]; positive regulation of apoptotic process [GO:0043065]; positive regulation of telomerase RNA localization to Cajal body [GO:1904874]; ribonucleoprotein complex assembly [GO:0022618]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q6PI26-1; Sequence=Displayed; Name=2; IsoId=Q6PI26-2; Sequence=VSP_056105; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasm, cytosol {ECO:0000269|PubMed:19383767}. Nucleus, nucleoplasm {ECO:0000269|PubMed:19383767}. Note=May at least partially shuttle between cytosol and nucleoplasm. In the nucleoplasm, exhibits a granular pattern, but is excluded from nucleoli and Cajal bodies. Absent from most H/ACA-box RNA transcription sites.


uniprotID: Q3SXP7
geneSymbol: SHISAL1
name: Protein shisa-like-1
length: 199
go: ENSG00000138944;
opentargets: integral component of membrane [GO:0016021]
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Single-pass type I membrane protein {ECO:0000305}.
sequence:
MTSCGQQSLNVLAVLFSLLFSAVLSAHFRVCEPYTDHKGRYHFGFHCPRLSDNKTFILCCHHNNTVFKYCCNETEFQAVMQANLTASSEGYMHNNYTALLGVWIYGFFVLMLLVLDLLYYSAMNYDICKVYLARWGIQGRWMKQDPRRWGNPARAPRPGQRAPQPQPPPGPLPQAPQAVHTLRGDAHSPPLMTFQSSSA


uniprotID: Q969X2
geneSymbol: ST6GALNAC6
reactome: R-HSA-4085001;
length: 333
go: ENSG00000160408;ENSG00000257524;
name:
Alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase 6 (EC 2.4.99.-) (GalNAc alpha-2,6-sialyltransferase VI) (ST6GalNAc VI) (ST6GalNAcVI) (hST6GalNAc VI) (Sialyltransferase 7F) (SIAT7-F)

sequence:

opentargets:
cytoplasm [GO:0005737]; Golgi membrane [GO:0000139]; integral component of membrane [GO:0016021]; plasma membrane [GO:0005886]; alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase activity [GO:0001665]; sialyltransferase activity [GO:0008373]; cell-cell recognition [GO:0009988]; ganglioside biosynthetic process [GO:0001574]; glycoprotein metabolic process [GO:0009100]; glycosphingolipid metabolic process [GO:0006687]; glycosylceramide metabolic process [GO:0006677]; oligosaccharide biosynthetic process [GO:0009312]; protein glycosylation [GO:0006486]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q969X2-1; Sequence=Displayed; Name=2; IsoId=Q969X2-2; Sequence=VSP_030359; Name=3; IsoId=Q969X2-3; Sequence=VSP_055722; 


uniprotID: Q9P2F8
geneSymbol: SIPA1L2
name: Signal-induced proliferation-associated 1-like protein 2 (SIPA1-like protein 2)
length: 1722
go: ENSG00000116991;
snps: rs16857502 rs2275307 rs1547742 rs3210731 rs2275303
sequence:

opentargets:
GTPase activator activity [GO:0005096]; regulation of small GTPase mediated signal transduction [GO:0051056]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9P2F8-1; Sequence=Displayed; Name=2; IsoId=Q9P2F8-2; Sequence=VSP_010920, VSP_010921, VSP_010922; 


uniprotID: O60292
geneSymbol: SIPA1L3
length: 1781
go: ENSG00000105738;
snps: rs138476311 rs2304133 rs3745945
name:
Signal-induced proliferation-associated 1-like protein 3 (SIPA1-like protein 3) (SPA-1-like protein 3)

sequence:

opentargets:
apical part of cell [GO:0045177]; apical plasma membrane [GO:0016324]; extracellular space [GO:0005615]; stress fiber [GO:0001725]; tricellular tight junction [GO:0061689]; GTPase activator activity [GO:0005096]; cytoskeleton organization [GO:0007010]; epithelial cell morphogenesis [GO:0003382]; establishment of epithelial cell polarity [GO:0090162]; eye development [GO:0001654]; hematopoietic progenitor cell differentiation [GO:0002244]; regulation of small GTPase mediated signal transduction [GO:0051056]

location:
SUBCELLULAR LOCATION: Apical cell membrane {ECO:0000269|PubMed:26231217}. Note=Detected in tricellular junctions. Colocalizes with apical F-actin. {ECO:0000269|PubMed:26231217}.


uniprotID: Q9H0F6
geneSymbol: SHARPIN
reactome: R-HSA-5357905;R-HSA-5357956;R-HSA-6794361;
pdb: 4EMO;5X0W;
length: 387
go: ENSG00000179526;
snps: rs11541804 rs34674752 rs35844464
name:
Sharpin (Shank-associated RH domain-interacting protein) (Shank-interacting protein-like 1) (hSIPL1)

sequence:

opentargets:
cell junction [GO:0030054]; cytosol [GO:0005829]; dendrite [GO:0030425]; LUBAC complex [GO:0071797]; postsynaptic density [GO:0014069]; identical protein binding [GO:0042802]; metal ion binding [GO:0046872]; polyubiquitin modification-dependent protein binding [GO:0031593]; protein-containing complex binding [GO:0044877]; ubiquitin binding [GO:0043130]; ubiquitin-protein transferase activity [GO:0004842]; apoptotic nuclear changes [GO:0030262]; brain development [GO:0007420]; I-kappaB kinase/NF-kappaB signaling [GO:0007249]; keratinization [GO:0031424]; mitochondrion organization [GO:0007005]; negative regulation of inflammatory response [GO:0050728]; positive regulation of I-kappaB kinase/NF-kappaB signaling [GO:0043123]; proteasome-mediated ubiquitin-dependent protein catabolic process [GO:0043161]; protein homooligomerization [GO:0051260]; protein linear polyubiquitination [GO:0097039]; regulation of CD40 signaling pathway [GO:2000348]; regulation of tumor necrosis factor-mediated signaling pathway [GO:0010803]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9H0F6-1; Sequence=Displayed; Name=2; Synonyms=hSIPL1A; IsoId=Q9H0F6-2; Sequence=VSP_023837, VSP_023838; 

location:
SUBCELLULAR LOCATION: Cytoplasm, cytosol {ECO:0000269|PubMed:20179993}. Cell junction, synapse {ECO:0000250|UniProtKB:Q9EQL9}. Note=Enriched at synaptic sites in mature neurons where it colocalizes with SHANK1. {ECO:0000250|UniProtKB:Q9EQL9}.


uniprotID: Q92187
geneSymbol: ST8SIA4
reactome: R-HSA-4085001;R-HSA-419037;
pdb: 5Y22;5Y3U;
length: 359
go: ENSG00000113532;
snps: rs199768560
name:
CMP-N-acetylneuraminate-poly-alpha-2,8-sialyltransferase (EC 2.4.99.-) (Alpha-2,8-sialyltransferase 8D) (Polysialyltransferase-1) (Sialyltransferase 8D) (SIAT8-D) (Sialyltransferase St8Sia IV) (ST8SiaIV)

sequence:

opentargets:
Golgi membrane [GO:0000139]; integral component of membrane [GO:0016021]; alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity [GO:0003828]; sialic acid binding [GO:0033691]; cellular protein modification process [GO:0006464]; ganglioside biosynthetic process [GO:0001574]; N-glycan processing [GO:0006491]; nervous system development [GO:0007399]; oligosaccharide metabolic process [GO:0009311]; protein glycosylation [GO:0006486]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q92187-1; Sequence=Displayed; Name=2; IsoId=Q92187-2; Sequence=VSP_044867; Note=No experimental confirmation available.; 


uniprotID: Q16842
geneSymbol: ST3GAL2
reactome: R-HSA-2022854;R-HSA-4085001;R-HSA-977068;
length: 350
go: ENSG00000157350;
name:
CMP-N-acetylneuraminate-beta-galactosamide-alpha-2,3-sialyltransferase 2 (Alpha 2,3-ST 2) (Beta-galactoside alpha-2,3-sialyltransferase 2) (EC 2.4.99.4) (Gal-NAc6S) (Gal-beta-1,3-GalNAc-alpha-2,3-sialyltransferase) (ST3Gal II) (ST3GalII) (ST3GalA.2) (Sialyltransferase 4B) (SIAT4-B)

sequence:

opentargets:
extracellular region [GO:0005576]; Golgi cisterna membrane [GO:0032580]; Golgi membrane [GO:0000139]; integral component of membrane [GO:0016021]; beta-galactoside (CMP) alpha-2,3-sialyltransferase activity [GO:0003836]; monosialoganglioside sialyltransferase activity [GO:0047288]; glycolipid biosynthetic process [GO:0009247]; glycoprotein biosynthetic process [GO:0009101]; keratan sulfate biosynthetic process [GO:0018146]; lipid glycosylation [GO:0030259]; O-glycan processing [GO:0016266]; oligosaccharide biosynthetic process [GO:0009312]; protein glycosylation [GO:0006486]; protein sialylation [GO:1990743]; sialylation [GO:0097503]

location:
SUBCELLULAR LOCATION: Golgi apparatus, Golgi stack membrane {ECO:0000250}; Single-pass type II membrane protein {ECO:0000250}. Secreted {ECO:0000250}. Note=Membrane-bound form in trans cisternae of Golgi. Secreted into the body fluid. {ECO:0000250}.


uniprotID: P61647
geneSymbol: ST8SIA6
reactome: R-HSA-4085001;R-HSA-975577;
length: 398
go: ENSG00000148488;
name:
Alpha-2,8-sialyltransferase 8F (EC 2.4.99.-) (Sialyltransferase 8F) (SIAT8-F) (Sialyltransferase St8Sia VI) (ST8SiaVI)

sequence:

opentargets:
Golgi membrane [GO:0000139]; integral component of membrane [GO:0016021]; alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity [GO:0003828]; sialyltransferase activity [GO:0008373]; blastocyst hatching [GO:0001835]; carbohydrate biosynthetic process [GO:0016051]; ganglioside biosynthetic process [GO:0001574]; glycolipid biosynthetic process [GO:0009247]; glycoprotein metabolic process [GO:0009100]; oligosaccharide metabolic process [GO:0009311]; protein O-linked glycosylation [GO:0006493]


uniprotID: Q8IW03
geneSymbol: SIAH3
name: Seven in absentia homolog 3 (Siah-3)
length: 269
go: ENSG00000215475;
location: SUBCELLULAR LOCATION: Mitochondrion {ECO:0000269|PubMed:24270810}.
sequence:

opentargets:
mitochondrion [GO:0005739]; nucleus [GO:0005634]; metal ion binding [GO:0046872]; ubiquitin conjugating enzyme binding [GO:0031624]; ubiquitin protein ligase activity [GO:0061630]; multicellular organism development [GO:0007275]; negative regulation of protein targeting to mitochondrion [GO:1903215]; proteasome-mediated ubiquitin-dependent protein catabolic process [GO:0043161]; regulation of protein stability [GO:0031647]; ubiquitin-dependent protein catabolic process [GO:0006511]


uniprotID: Q6IA17
geneSymbol: SIGIRR
reactome: R-HSA-166058;R-HSA-9008059;
length: 410
go: ENSG00000185187;
snps: rs117739035 rs111819059 rs3210908
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Single-pass type III membrane protein {ECO:0000305}.
name:
Single Ig IL-1-related receptor (Single Ig IL-1R-related molecule) (Single immunoglobulin domain-containing IL1R-related protein) (Toll/interleukin-1 receptor 8) (TIR8)

sequence:

opentargets:
integral component of membrane [GO:0016021]; membrane [GO:0016020]; plasma membrane [GO:0005886]; acute-phase response [GO:0006953]; cellular response to cytokine stimulus [GO:0071345]; negative regulation of chemokine biosynthetic process [GO:0045079]; negative regulation of cytokine-mediated signaling pathway [GO:0001960]; negative regulation of DNA-binding transcription factor activity [GO:0043433]; negative regulation of lipopolysaccharide-mediated signaling pathway [GO:0031665]; signal transduction [GO:0007165]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q6IA17-1; Sequence=Displayed; Name=2; IsoId=Q6IA17-2; Sequence=VSP_015717; Note=No experimental confirmation available.; 


uniprotID: Q8N5G0
geneSymbol: SMIM20
sequence: MSRNLRTALIFGGFISLIGAAFYPIYFRPLMRLEEYKKEQAINRAGIVQEDVQPPGLKVWSDPFGRK
length: 67
go: ENSG00000250317;
snps: rs4521339 rs2305669 rs6448414 rs2305670
name:
Small integral membrane protein 20 (Mitochondrial translation regulation assembly intermediate of cytochrome c oxidase protein of 7 kDa) (MITRAC7)

opentargets:
integral component of membrane [GO:0016021]; mitochondrial inner membrane [GO:0005743]; mitochondrial respiratory chain complex IV assembly [GO:0033617]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q8N5G0-1; Sequence=Displayed; Name=2; IsoId=Q8N5G0-2; Sequence=VSP_038831; Note=Gene prediction. {ECO:0000305}; 

location:
SUBCELLULAR LOCATION: Mitochondrion inner membrane {ECO:0000269|PubMed:26321642}; Single-pass membrane protein {ECO:0000305}.


uniprotID: Q96ST3
geneSymbol: SIN3A
reactome: R-HSA-3899300;R-HSA-400206;R-HSA-427413;R-HSA-8936459;R-HSA-983231;
pdb: 1PO4;
length: 1273
go: ENSG00000169375;
snps: rs60213317
name:
Paired amphipathic helix protein Sin3a (Histone deacetylase complex subunit Sin3a) (Transcriptional corepressor Sin3a)

sequence:

opentargets:
chromatin [GO:0000785]; kinetochore [GO:0000776]; nucleolus [GO:0005730]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; Sin3 complex [GO:0016580]; transcription factor complex [GO:0005667]; transcriptional repressor complex [GO:0017053]; chromatin binding [GO:0003682]; DNA-binding transcription factor activity [GO:0003700]; protein deacetylase activity [GO:0033558]; protein-containing complex binding [GO:0044877]; RNA binding [GO:0003723]; RNA polymerase II activating transcription factor binding [GO:0001102]; RNA polymerase II repressing transcription factor binding [GO:0001103]; transcription corepressor activity [GO:0003714]; transcription regulatory region sequence-specific DNA binding [GO:0000976]; activation of innate immune response [GO:0002218]; aging [GO:0007568]; cellular protein localization [GO:0034613]; cellular response to dopamine [GO:1903351]; cellular response to glucose stimulus [GO:0071333]; DNA replication [GO:0006260]; hematopoietic progenitor cell differentiation [GO:0002244]; histone deacetylation [GO:0016575]; in utero embryonic development [GO:0001701]; negative regulation of apoptotic process [GO:0043066]; negative regulation of circadian rhythm [GO:0042754]; negative regulation of histone H3-K27 acetylation [GO:1901675]; negative regulation of protein localization to nucleus [GO:1900181]; negative regulation of transcription by RNA polymerase II [GO:0000122]; negative regulation of transcription regulatory region DNA binding [GO:2000678]; negative regulation of transcription, DNA-templated [GO:0045892]; positive regulation of chromatin silencing [GO:0031937]; positive regulation of defense response to virus by host [GO:0002230]; positive regulation of G2/M transition of mitotic cell cycle [GO:0010971]; positive regulation of transcription by RNA polymerase II [GO:0045944]; protein deacetylation [GO:0006476]; regulation of hormone levels [GO:0010817]; regulation of lipid metabolic process [GO:0019216]; regulation of megakaryocyte differentiation [GO:0045652]; regulation of transcription from RNA polymerase II promoter in response to oxidative stress [GO:0043619]; response to methylglyoxal [GO:0051595]; rhythmic process [GO:0048511]

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000255|PROSITE-ProRule:PRU00810, ECO:0000269|PubMed:16820529}. Nucleus, nucleolus {ECO:0000269|PubMed:16820529}. Note=Recruited to the nucleolus by SAP30L.


uniprotID: A0A1B0GU29
geneSymbol: SMIM28
name: Small integral membrane protein 28
length: 152
go: ENSG00000262543;
opentargets: integral component of membrane [GO:0016021]
location: SUBCELLULAR LOCATION: Membrane {ECO:0000255}; Single-pass membrane protein {ECO:0000255}.
sequence:
MRGLLGSSWKKFGHAGRGTYEWLTSEPGLPLLETQLQGTQGVSSTQEDVEPFLCILLPATILLFLAFLLLFLYRRCKSPPPQGQVFSIDLPEHPPAGEVTDLLPGLAWSSEDFPYSPLPPEATLPSQCLPPSYEEATRNPPGEEAQGCSPSV


uniprotID: Q1XH10
geneSymbol: SKIDA1
name: SKI/DACH domain-containing protein 1 (Protein DLN-1)
length: 908
go: ENSG00000180592;
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative initiation; Named isoforms=2;  Name=1; IsoId=Q1XH10-1; Sequence=Displayed; Name=2; IsoId=Q1XH10-2; Sequence=VSP_059383; 


uniprotID: P63208
geneSymbol: SKP1
length: 163
go: ENSG00000113558;
drug: DB06980;DB06981;DB06982;DB07950;DB01750;
reactome:
R-HSA-1169091;R-HSA-1170546;R-HSA-174113;R-HSA-180534;R-HSA-187577;R-HSA-195253;R-HSA-202424;R-HSA-2122947;R-HSA-2565942;R-HSA-2644606;R-HSA-2644607;R-HSA-2871837;R-HSA-2894862;R-HSA-400253;R-HSA-5607761;R-HSA-5607764;R-HSA-5610780;R-HSA-5610783;R-HSA-5610785;R-HSA-5676590;R-HSA-5684264;R-HSA-68949;R-HSA-69231;R-HSA-8854050;R-HSA-8939902;R-HSA-8951664;R-HSA-9020702;R-HSA-917937;R-HSA-9604323;R-HSA-983168;

pdb:
1FQV;1FS1;1FS2;1LDK;1P22;2ASS;2AST;2E31;2E32;2OVP;2OVQ;2OVR;3L2O;3WSO;4I6J;5IBK;5JH5;5K35;5V4B;5VZT;5VZU;5XYL;6BVA;6BYH;6C16;

name:
S-phase kinase-associated protein 1 (Cyclin-A/CDK2-associated protein p19) (p19A) (Organ of Corti protein 2) (OCP-2) (Organ of Corti protein II) (OCP-II) (RNA polymerase II elongation factor-like protein) (SIII) (Transcription elongation factor B polypeptide 1-like) (p19skp1)

sequence:
MPSIKLQSSDGEIFEVDVEIAKQSVTIKTMLEDLGMDDEGDDDPVPLPNVNAAILKKVIQWCTHHKDDPPPPEDDENKEKRTDDIPVWDQEFLKVDQGTLFELILAANYLDIKGLLDVTCKTVANMIKGKTPEEIRKTFNIKNDFTEEEEAQVRKENQWCEEK

opentargets:
centrosome [GO:0005813]; Cul7-RING ubiquitin ligase complex [GO:0031467]; cytoplasm [GO:0005737]; cytosol [GO:0005829]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; SCF ubiquitin ligase complex [GO:0019005]; beta-catenin binding [GO:0008013]; cullin family protein binding [GO:0097602]; protein domain specific binding [GO:0019904]; ubiquitin-protein transferase activity [GO:0004842]; cellular iron ion homeostasis [GO:0006879]; G2/M transition of mitotic cell cycle [GO:0000086]; histone H2A monoubiquitination [GO:0035518]; interleukin-1-mediated signaling pathway [GO:0070498]; maintenance of protein location in nucleus [GO:0051457]; negative regulation of G2/M transition of mitotic cell cycle [GO:0010972]; NIK/NF-kappaB signaling [GO:0038061]; post-translational protein modification [GO:0043687]; protein polyubiquitination [GO:0000209]; protein ubiquitination [GO:0016567]; SCF complex assembly [GO:0010265]; SCF-dependent proteasomal ubiquitin-dependent protein catabolic process [GO:0031146]; stress-activated MAPK cascade [GO:0051403]; viral process [GO:0016032]; Wnt signaling pathway [GO:0016055]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P63208-1, P34991-1; Sequence=Displayed; Name=2; IsoId=P63208-2, P34991-2; Sequence=VSP_007555; Note=No experimental confirmation available.; 


uniprotID: Q15477
geneSymbol: SKIV2L
reactome: R-HSA-390471;R-HSA-429958;
name: Helicase SKI2W (Ski2) (EC 3.6.4.-) (Helicase-like protein) (HLP)
length: 1246
go: ENSG00000204351;
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000305}. Cytoplasm {ECO:0000305}.
sequence:

opentargets:
cytosol [GO:0005829]; nucleus [GO:0005634]; Ski complex [GO:0055087]; ATP binding [GO:0005524]; ATP-dependent RNA helicase activity [GO:0004004]; RNA binding [GO:0003723]; exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay [GO:0043928]; nuclear-transcribed mRNA catabolic process, 3'-5' exonucleolytic nonsense-mediated decay [GO:0070478]; RNA catabolic process [GO:0006401]

snps:
rs438999 rs437179 rs36038685 rs281875237 rs557829269 rs3911893 rs106287 rs449643 rs2734329 rs2746400 


uniprotID: Q2VWA4
geneSymbol: SKOR2
length: 1001
go: ENSG00000215474;
snps: rs7235231
name:
SKI family transcriptional corepressor 2 (Functional Smad-suppressing element on chromosome 18) (Fussel-18) (LBX1 corepressor 1-like protein) (Ladybird homeobox corepressor 1-like protein)

sequence:

opentargets:
cytoplasm [GO:0005737]; nucleus [GO:0005634]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; SMAD binding [GO:0046332]; transcription corepressor activity [GO:0003714]; negative regulation of BMP signaling pathway [GO:0030514]; negative regulation of cell differentiation [GO:0045596]; negative regulation of transforming growth factor beta receptor signaling pathway [GO:0030512]; neuron development [GO:0048666]; regulation of transcription, DNA-templated [GO:0006355]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q2VWA4-1; Sequence=Displayed; Name=2; IsoId=Q2VWA4-2; Sequence=VSP_033691, VSP_033692; 

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:16200078}. Cytoplasm {ECO:0000269|PubMed:16200078}.


uniprotID: Q9P0V8
geneSymbol: SLAMF8
length: 285
go: ENSG00000158714;
snps: rs2494514 rs34687326 rs3795331
location: SUBCELLULAR LOCATION: Membrane; Single-pass type I membrane protein.
name:
SLAM family member 8 (B-lymphocyte activator macrophage expressed) (BCM-like membrane protein) (CD antigen CD353)

sequence:

opentargets:
cell surface [GO:0009986]; integral component of membrane [GO:0016021]; identical protein binding [GO:0042802]; signaling receptor activity [GO:0038023]; B-1 B cell lineage commitment [GO:0002336]; cellular response to drug [GO:0035690]; defense response to bacterium [GO:0042742]; leukocyte chemotaxis involved in inflammatory response [GO:0002232]; negative regulation of dendritic cell chemotaxis [GO:2000509]; negative regulation of macrophage chemotaxis [GO:0010760]; negative regulation of monocyte chemotaxis [GO:0090027]; negative regulation of neutrophil migration [GO:1902623]; negative regulation of respiratory burst involved in inflammatory response [GO:0060266]; phagosome acidification [GO:0090383]; regulation of B cell differentiation [GO:0045577]; regulation of kinase activity [GO:0043549]; regulation of NAD(P)H oxidase activity [GO:0033860]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9P0V8-1; Sequence=Displayed; Name=2; IsoId=Q9P0V8-2; Sequence=VSP_013896; Note=No experimental confirmation available.; 


uniprotID: Q9P270
geneSymbol: SLAIN2
pdb: 3RDV;
name: SLAIN motif-containing protein 2
length: 581
go: ENSG00000109171;
sequence:

opentargets:
centrosome [GO:0005813]; cytosol [GO:0005829]; microtubule cytoskeleton [GO:0015630]; cytoplasmic microtubule organization [GO:0031122]; microtubule nucleation [GO:0007020]; positive regulation of microtubule polymerization [GO:0031116]

location:
SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton. Note=Colocalizes with microtubules. Detected at the plus end of growing microtubules.


uniprotID: Q13291
geneSymbol: SLAMF1
pdb: 1D4T;1D4W;1I3Z;1KA6;1KA7;1M27;2DZF;2IE9;2IFL;2IG5;
length: 335
go: ENSG00000117090;
snps: rs2295612 rs3796504
name:
Signaling lymphocytic activation molecule (CDw150) (IPO-3) (SLAM family member 1) (CD antigen CD150)

sequence:

opentargets:
cell surface [GO:0009986]; extracellular exosome [GO:0070062]; integral component of membrane [GO:0016021]; plasma membrane [GO:0005886]; antigen binding [GO:0003823]; identical protein binding [GO:0042802]; transmembrane signaling receptor activity [GO:0004888]; virus receptor activity [GO:0001618]; adaptive immune response [GO:0002250]; cell adhesion [GO:0007155]; innate immune response [GO:0045087]; lymphocyte activation [GO:0046649]; myeloid dendritic cell activation involved in immune response [GO:0002277]; negative regulation of CD40 signaling pathway [GO:2000349]; negative regulation of interleukin-12 production [GO:0032695]; negative regulation of interleukin-6 production [GO:0032715]; negative regulation of tumor necrosis factor production [GO:0032720]; phagocytosis [GO:0006909]; positive regulation of cell proliferation [GO:0008284]; positive regulation of ERK1 and ERK2 cascade [GO:0070374]; positive regulation of JNK cascade [GO:0046330]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Comment=Additional isoforms seem to exist.; Name=1; Synonyms=Long, mCD150; IsoId=Q13291-1; Sequence=Displayed; Name=2; Synonyms=Short, SURslam2, vmSLAM; IsoId=Q13291-2; Sequence=VSP_002568, VSP_002569; Name=3; Synonyms=Secreted, SECslam, sSLAM; IsoId=Q13291-3; Sequence=VSP_002567; Name=4; Synonyms=nCD150; IsoId=Q13291-4; Sequence=VSP_058033; 

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:11806999}; Single-pass type I membrane protein. Note=Present on the surface of B-cells and T-cells. Located at the plasma membrane contacts between neighboring T-cells (PubMed:11806999). {ECO:0000269|PubMed:11806999}.; SUBCELLULAR LOCATION: Isoform 3: Secreted {ECO:0000305|PubMed:7617038}.; SUBCELLULAR LOCATION: Isoform 4: Cell membrane {ECO:0000305|PubMed:25710480}. Note=Overexpressed isoform 4 is detected on the cell surface. In glioma cell lines endogenuous isoform 4 is detetced predominantly in the cytoplasm and colocalized with endoplasmic reticulum and Golgi markers. {ECO:0000269|PubMed:25710480}.


uniprotID: Q5TAH2
geneSymbol: SLC9C2
reactome: R-HSA-2672351;
length: 1124
go: ENSG00000162753;
snps: rs7551131 rs16846206 rs17854214
location: SUBCELLULAR LOCATION: Membrane; Multi-pass membrane protein.
name:
Sodium/hydrogen exchanger 11 (Na(+)/H(+) exchanger 11) (NHE-11) (Solute carrier family 9 member 11) (Solute carrier family 9 member C2)

sequence:

opentargets:
integral component of membrane [GO:0016021]; plasma membrane [GO:0005886]; potassium:proton antiporter activity [GO:0015386]; sodium:proton antiporter activity [GO:0015385]; potassium ion transmembrane transport [GO:0071805]; regulation of intracellular pH [GO:0051453]; sodium ion import across plasma membrane [GO:0098719]


uniprotID: A8MWL6
name: Putative synaptogyrin-2 like protein
length: 223
opentargets: integral component of membrane [GO:0016021]; synaptic vesicle membrane [GO:0030672]
location: SUBCELLULAR LOCATION: Membrane; Multi-pass membrane protein.
sequence:


uniprotID: Q6IEG0
geneSymbol: SNRNP48
reactome: R-HSA-72165;
pdb: 2VY4;2VY5;
name: U11/U12 small nuclear ribonucleoprotein 48 kDa protein (U11/U12 snRNP 48 kDa protein) (U11/U12-48K)
length: 339
go: ENSG00000168566;
snps: rs2757594 rs3823184
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:15146077}.
sequence:

opentargets:
cytosol [GO:0005829]; nucleoplasm [GO:0005654]; U12-type spliceosomal complex [GO:0005689]; metal ion binding [GO:0046872]; mRNA splicing, via spliceosome [GO:0000398]; RNA splicing [GO:0008380]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q6IEG0-1; Sequence=Displayed; Name=2; IsoId=Q6IEG0-2; Sequence=VSP_014640, VSP_014641; Note=No experimental confirmation available.; 


uniprotID: Q16533
geneSymbol: SNAPC1
reactome: R-HSA-6807505;R-HSA-749476;R-HSA-76071;
length: 368
go: ENSG00000023608;
location: SUBCELLULAR LOCATION: Nucleus.
name:
snRNA-activating protein complex subunit 1 (SNAPc subunit 1) (Proximal sequence element-binding transcription factor subunit gamma) (PSE-binding factor subunit gamma) (PTF subunit gamma) (Small nuclear RNA-activating complex polypeptide 1) (snRNA-activating protein complex 43 kDa subunit) (SNAPc 43 kDa subunit)

sequence:

opentargets:
nucleolus [GO:0005730]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; snRNA-activating protein complex [GO:0019185]; sequence-specific DNA binding [GO:0043565]; snRNA transcription by RNA polymerase II [GO:0042795]; snRNA transcription by RNA polymerase III [GO:0042796]


uniprotID: Q13487
geneSymbol: SNAPC2
reactome: R-HSA-6807505;R-HSA-749476;R-HSA-76071;
length: 334
go: ENSG00000104976;
snps: rs475002
location: SUBCELLULAR LOCATION: Nucleus.
name:
snRNA-activating protein complex subunit 2 (SNAPc subunit 2) (Proximal sequence element-binding transcription factor subunit delta) (PSE-binding factor subunit delta) (PTF subunit delta) (Small nuclear RNA-activating complex polypeptide 2) (snRNA-activating protein complex 45 kDa subunit) (SNAPc 45 kDa subunit)

sequence:

opentargets:
cytosol [GO:0005829]; nuclear body [GO:0016604]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; DNA-binding transcription factor activity [GO:0003700]; snRNA transcription [GO:0009301]; snRNA transcription by RNA polymerase II [GO:0042795]; transcription by RNA polymerase II [GO:0006366]; transcription by RNA polymerase III [GO:0006383]


uniprotID: Q13424
geneSymbol: SNTA1
length: 505
go: ENSG00000101400;
snps: rs56157422 rs1046815 rs121434500
name:
Alpha-1-syntrophin (59 kDa dystrophin-associated protein A1 acidic component 1) (Pro-TGF-alpha cytoplasmic domain-interacting protein 1) (TACIP1) (Syntrophin-1)

sequence:

opentargets:
cell junction [GO:0030054]; cytoplasm [GO:0005737]; cytoskeleton [GO:0005856]; dystrophin-associated glycoprotein complex [GO:0016010]; intracellular [GO:0005622]; neuromuscular junction [GO:0031594]; protein-containing complex [GO:0032991]; sarcolemma [GO:0042383]; synapse [GO:0045202]; syntrophin complex [GO:0016013]; actin binding [GO:0003779]; ATPase binding [GO:0051117]; calmodulin binding [GO:0005516]; ion channel binding [GO:0044325]; nitric-oxide synthase binding [GO:0050998]; PDZ domain binding [GO:0030165]; structural molecule activity [GO:0005198]; muscle contraction [GO:0006936]; negative regulation of peptidyl-cysteine S-nitrosylation [GO:1902083]; regulation of heart rate [GO:0002027]; regulation of sodium ion transmembrane transport [GO:1902305]; regulation of ventricular cardiac muscle cell membrane repolarization [GO:0060307]; ventricular cardiac muscle cell action potential [GO:0086005]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q13424-1; Sequence=Displayed; Name=2; IsoId=Q13424-2; Sequence=VSP_056827; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cell membrane, sarcolemma {ECO:0000250}; Peripheral membrane protein {ECO:0000250}; Cytoplasmic side {ECO:0000250}. Cell junction {ECO:0000250}. Cytoplasm, cytoskeleton {ECO:0000250}. Note=In skeletal muscle, it localizes at the cytoplasmic side of the sarcolemmal membrane and at neuromuscular junctions. {ECO:0000250}.


uniprotID: O75159
geneSymbol: SOCS5
reactome: R-HSA-6785807;R-HSA-8951664;
length: 536
go: ENSG00000171150;
name:
Suppressor of cytokine signaling 5 (SOCS-5) (Cytokine-inducible SH2 protein 6) (CIS-6) (Cytokine-inducible SH2-containing protein 5)

sequence:

opentargets:
cytosol [GO:0005829]; phosphatidylinositol 3-kinase complex [GO:0005942]; 1-phosphatidylinositol-3-kinase regulator activity [GO:0046935]; epidermal growth factor receptor binding [GO:0005154]; receptor tyrosine kinase binding [GO:0030971]; cellular response to low-density lipoprotein particle stimulus [GO:0071404]; cytokine-mediated signaling pathway [GO:0019221]; epidermal growth factor receptor signaling pathway [GO:0007173]; JAK-STAT cascade [GO:0007259]; negative regulation of epidermal growth factor-activated receptor activity [GO:0007175]; negative regulation of inflammatory response [GO:0050728]; negative regulation of interleukin-6 production [GO:0032715]; negative regulation of monocyte chemotactic protein-1 production [GO:0071638]; negative regulation of signal transduction [GO:0009968]; negative regulation of T-helper 2 cell differentiation [GO:0045629]; phosphatidylinositol phosphorylation [GO:0046854]; positive regulation of proteasomal ubiquitin-dependent protein catabolic process [GO:0032436]; positive regulation of T-helper 1 cell differentiation [GO:0045627]; post-translational protein modification [GO:0043687]; protein ubiquitination [GO:0016567]; regulation of growth [GO:0040008]; vascular endothelial cell response to fluid shear stress [GO:0097699]


uniprotID: O14543
geneSymbol: SOCS3
length: 225
go: ENSG00000184557;
snps: rs1061489
reactome:
R-HSA-1059683;R-HSA-2586552;R-HSA-6785807;R-HSA-877300;R-HSA-877312;R-HSA-8849474;R-HSA-8939242;R-HSA-8951664;R-HSA-909733;R-HSA-912694;R-HSA-982772;R-HSA-983168;

name:
Suppressor of cytokine signaling 3 (SOCS-3) (Cytokine-inducible SH2 protein 3) (CIS-3) (STAT-induced STAT inhibitor 3) (SSI-3)

sequence:

opentargets:
cytosol [GO:0005829]; phosphatidylinositol 3-kinase complex [GO:0005942]; 1-phosphatidylinositol-3-kinase regulator activity [GO:0046935]; phosphotyrosine residue binding [GO:0001784]; protein kinase inhibitor activity [GO:0004860]; branching involved in labyrinthine layer morphogenesis [GO:0060670]; cellular response to leukemia inhibitory factor [GO:1990830]; cytokine-mediated signaling pathway [GO:0019221]; interleukin-6-mediated signaling pathway [GO:0070102]; JAK-STAT cascade [GO:0007259]; negative regulation of apoptotic process [GO:0043066]; negative regulation of inflammatory response [GO:0050728]; negative regulation of insulin receptor signaling pathway [GO:0046627]; negative regulation of JAK-STAT cascade [GO:0046426]; negative regulation of tyrosine phosphorylation of STAT protein [GO:0042532]; phosphatidylinositol phosphorylation [GO:0046854]; placenta blood vessel development [GO:0060674]; positive regulation of cell differentiation [GO:0045597]; positive regulation of tyrosine phosphorylation of STAT protein [GO:0042531]; post-translational protein modification [GO:0043687]; protein ubiquitination [GO:0016567]; regulation of growth [GO:0040008]; regulation of interferon-gamma-mediated signaling pathway [GO:0060334]; spongiotrophoblast differentiation [GO:0060708]; trophoblast giant cell differentiation [GO:0060707]


uniprotID: Q5TF21
geneSymbol: SOGA3
name: Protein SOGA3
length: 947
go: ENSG00000214338;ENSG00000255330;
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Single-pass membrane protein {ECO:0000305}.
sequence:

opentargets:
extracellular space [GO:0005615]; integral component of membrane [GO:0016021]; regulation of autophagy [GO:0010506]


uniprotID: Q15506
geneSymbol: SPA17
length: 151
go: ENSG00000064199;
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Peripheral membrane protein {ECO:0000305}.
name:
Sperm surface protein Sp17 (Cancer/testis antigen 22) (CT22) (Sp17-1) (Sperm autoantigenic protein 17) (Sperm protein 17)

sequence:
MSIPFSNTHYRIPQGFGNLLEGLTREILREQPDNIPAFAAAYFESLLEKREKTNFDPAEWGSKVEDRFYNNHAFEEQEPPEKSDPKQEESQISGKEEETSVTILDSSEEDKEKEEVAAVKIQAAFRGHIAREEAKKMKTNSLQNEEKEENK

opentargets:
cilium [GO:0005929]; cytoplasm [GO:0005737]; external side of plasma membrane [GO:0009897]; motile cilium [GO:0031514]; sperm fibrous sheath [GO:0035686]; sperm principal piece [GO:0097228]; calmodulin binding [GO:0005516]; binding of sperm to zona pellucida [GO:0007339]; epithelial cilium movement [GO:0003351]; single fertilization [GO:0007338]; spermatogenesis [GO:0007283]


uniprotID: Q02086
geneSymbol: SP2
name: Transcription factor Sp2
length: 613
go: ENSG00000167182;
location: SUBCELLULAR LOCATION: Nucleus.
sequence:

opentargets:
nucleus [GO:0005634]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; histone deacetylase binding [GO:0042826]; 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]; immune response [GO:0006955]; multicellular organism growth [GO:0035264]; negative regulation of transcription by RNA polymerase II [GO:0000122]; regulation of transcription by RNA polymerase II [GO:0006357]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q02086-1; Sequence=Displayed; Name=2; IsoId=Q02086-2; Sequence=VSP_022021; 


uniprotID: P08047
geneSymbol: SP1
reactome: R-HSA-1989781;R-HSA-2173796;R-HSA-2426168;R-HSA-2559585;R-HSA-6807505;R-HSA-9018519;
pdb: 1SP1;1SP2;1VA1;1VA2;1VA3;
name: Transcription factor Sp1
length: 785
go: ENSG00000185591;
snps: rs3741665
sequence:

opentargets:
cytoplasm [GO:0005737]; nuclear chromatin [GO:0000790]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; protein-DNA complex [GO:0032993]; transcriptional repressor complex [GO:0017053]; bHLH transcription factor binding [GO:0043425]; DNA binding [GO:0003677]; DNA-binding transcription factor activity [GO:0003700]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; double-stranded DNA binding [GO:0003690]; histone acetyltransferase binding [GO:0035035]; histone deacetylase binding [GO:0042826]; HMG box domain binding [GO:0071837]; metal ion binding [GO:0046872]; protein C-terminus binding [GO:0008022]; protein homodimerization activity [GO:0042803]; proximal promoter DNA-binding transcription activator activity, RNA polymerase II-specific [GO:0001077]; proximal promoter sequence-specific DNA binding [GO:0000987]; repressing transcription factor binding [GO:0070491]; RNA polymerase II proximal promoter sequence-specific DNA binding [GO:0000978]; RNA polymerase II regulatory region sequence-specific DNA binding [GO:0000977]; RNA polymerase II repressing transcription factor binding [GO:0001103]; sequence-specific DNA binding [GO:0043565]; transcription factor activity, RNA polymerase II proximal promoter sequence-specific DNA binding [GO:0000982]; transcription factor binding [GO:0008134]; transcription regulatory region DNA binding [GO:0044212]; cellular response to insulin stimulus [GO:0032869]; positive regulation by host of viral transcription [GO:0043923]; positive regulation of angiogenesis [GO:0045766]; positive regulation of blood vessel endothelial cell migration [GO:0043536]; positive regulation of gene expression [GO:0010628]; positive regulation of hydrogen sulfide biosynthetic process [GO:1904828]; positive regulation of transcription by RNA polymerase II [GO:0045944]; positive regulation of transcription, DNA-templated [GO:0045893]; positive regulation of vascular endothelial cell proliferation [GO:1905564]; regulation of cholesterol biosynthetic process [GO:0045540]; regulation of phenotypic switching by transcription from RNA polymerase II promoter [GO:0100057]; regulation of transcription by RNA polymerase II [GO:0006357]; regulation of transcription, DNA-templated [GO:0006355]; response to hydroperoxide [GO:0033194]; rhythmic process [GO:0048511]; snRNA transcription by RNA polymerase II [GO:0042795]; viral process [GO:0016032]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; Synonyms=Sp1a; IsoId=P08047-1; Sequence=Displayed; Name=2; Synonyms=Sp1b; IsoId=P08047-2; Sequence=VSP_053934; Name=3; Synonyms=Sp1c; IsoId=P08047-3; Sequence=VSP_053935; 

location:
SUBCELLULAR LOCATION: Nucleus. Cytoplasm. Note=Nuclear location is governed by glycosylated/phosphorylated states. Insulin promotes nuclear location, while glucagon favors cytoplasmic location.


uniprotID: Q86XZ4
geneSymbol: SPATS2
length: 545
go: ENSG00000123352;
opentargets: cytoplasm [GO:0005737]; cytosol [GO:0005829]; RNA binding [GO:0003723]
location: SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250}.
name:
Spermatogenesis-associated serine-rich protein 2 (Serine-rich spermatocytes and round spermatid 59 kDa protein) (p59scr)

sequence:


uniprotID: B4DZS4
geneSymbol: TCP11X1
name: T-complex protein 11 X-linked protein 1
length: 312
sequence:


uniprotID: Q5H9J9
geneSymbol: TCP11X2
name: T-complex protein 11 X-linked protein 2
length: 407
sequence:


uniprotID: Q8NBT2
geneSymbol: SPC24
reactome: R-HSA-141444;R-HSA-2467813;R-HSA-2500257;R-HSA-5663220;R-HSA-68877;
pdb: 2VE7;3IZ0;
name: Kinetochore protein Spc24 (hSpc24)
length: 197
sequence:
MAAFRDIEEVSQGLLSLLGANRAEAQQRRLLGRHEQVVERLLETQDGAEKQLREILTMEKEVAQSLLNAKEQVHQGGVELQQLEAGLQEAGEEDTRLKASLLYLTRELEELKEIEADLERQEKEVDEDTTVTIPSAVYVAQLYHQVSKIEWDYECEPGMVKGIHHGPSVAQPIHLDSTQLSRKFISDYLWSLVDTEW

opentargets:
condensed chromosome kinetochore [GO:0000777]; cytosol [GO:0005829]; Ndc80 complex [GO:0031262]; nucleolus [GO:0005730]; nucleus [GO:0005634]; cell cycle [GO:0007049]; cell division [GO:0051301]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q8NBT2-1; Sequence=Displayed; Name=2; IsoId=Q8NBT2-2; Sequence=VSP_054243; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:14738735, ECO:0000269|PubMed:15561729, ECO:0000269|PubMed:15961401, ECO:0000269|PubMed:15964272}. Chromosome, centromere, kinetochore {ECO:0000269|PubMed:14738735, ECO:0000269|PubMed:15561729, ECO:0000269|PubMed:15961401, ECO:0000269|PubMed:15964272}. Note=Localizes to kinetochores from late prophase to anaphase. Localizes specifically to the outer plate of the kinetochore. {ECO:0000269|PubMed:14738735}.


uniprotID: A2VDJ0
geneSymbol: TMEM131L
name: Transmembrane protein 131-like
length: 1609
go: ENSG00000121210;
snps: rs7669418 rs17370297 rs755078 rs35018723 rs35543386
sequence:

opentargets:
cytoplasm [GO:0005737]; endoplasmic reticulum [GO:0005783]; integral component of membrane [GO:0016021]; plasma membrane [GO:0005886]; negative regulation of canonical Wnt signaling pathway [GO:0090090]; negative regulation of immature T cell proliferation in thymus [GO:0033088]; Wnt signaling pathway [GO:0016055]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=5;  Name=1; Synonyms=L {ECO:0000303|PubMed:23690469}; IsoId=A2VDJ0-1; Sequence=Displayed; Name=2; IsoId=A2VDJ0-2; Sequence=VSP_032826, VSP_032828; Note=No experimental confirmation available.; Name=3; IsoId=A2VDJ0-3; Sequence=VSP_032827, VSP_032829; Note=No experimental confirmation available.; Name=4; IsoId=A2VDJ0-5; Sequence=VSP_032827; Note=No experimental confirmation available.; Name=5; Synonyms=S {ECO:0000303|PubMed:23690469}; IsoId=A2VDJ0-6; Sequence=VSP_057633, VSP_032827; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:23690469}; Single-pass type I membrane protein {ECO:0000305}. Cytoplasm {ECO:0000269|PubMed:23690469}. Note=During intrathymic development, resides in punctate cytoplasmic structures in DN1 and DN2 cells. In DN3 cells, found in large crescent-shaped membrane structures, which preferentially localize in cell-to-cell contact zones. {ECO:0000269|PubMed:23690469}.; SUBCELLULAR LOCATION: Isoform 1: Endoplasmic reticulum {ECO:0000269|PubMed:23690469}. Note=Transmembrane localization is essential for Wnt signaling inhibition. {ECO:0000269|PubMed:23690469}.; SUBCELLULAR LOCATION: Isoform 5: Cytoplasm {ECO:0000269|PubMed:23690469}. Note=Scattered throughout the cytoplasm in small-sized punctate structures. {ECO:0000269|PubMed:23690469}.


uniprotID: Q15005
geneSymbol: SPCS2
reactome: R-HSA-1799339;R-HSA-381771;R-HSA-400511;R-HSA-422085;
length: 226
go: ENSG00000118363;
name:
Signal peptidase complex subunit 2 (EC 3.4.-.-) (Microsomal signal peptidase 25 kDa subunit) (SPase 25 kDa subunit)

sequence:

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

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


uniprotID: Q14C87
geneSymbol: TMEM132D
length: 1099
go: ENSG00000151952;
snps: rs12816729 rs12816538 rs555131
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Single-pass type I membrane protein {ECO:0000305}.
name:
Transmembrane protein 132D (Mature oligodendrocytes transmembrane protein) (Mature OL transmembrane protein)

sequence:

opentargets:
integral component of membrane [GO:0016021]; negative regulation of phosphatase activity [GO:0010923]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q14C87-1; Sequence=Displayed; Name=2; IsoId=Q14C87-2; Sequence=VSP_025307, VSP_025308; Note=No experimental confirmation available.; 


uniprotID: A6NJR5
name: Putative speedy protein-like protein 3
length: 290
opentargets: protein kinase binding [GO:0019901]
sequence:


uniprotID: Q96EA4
geneSymbol: SPDL1
reactome: R-HSA-141444;R-HSA-2467813;R-HSA-2500257;R-HSA-5663220;R-HSA-68877;
length: 605
go: ENSG00000040275;
snps: rs3797713 rs3777084
name:
Protein Spindly (hSpindly) (Arsenite-related gene 1 protein) (Coiled-coil domain-containing protein 99) (Rhabdomyosarcoma antigen MU-RMS-40.4A) (Spindle apparatus coiled-coil domain-containing protein 1)

sequence:

opentargets:
condensed chromosome outer kinetochore [GO:0000940]; cytosol [GO:0005829]; microtubule organizing center [GO:0005815]; nucleus [GO:0005634]; spindle pole [GO:0000922]; enzyme binding [GO:0019899]; kinetochore binding [GO:0043515]; cell division [GO:0051301]; establishment of mitotic spindle orientation [GO:0000132]; mitotic metaphase plate congression [GO:0007080]; mitotic spindle assembly checkpoint [GO:0007094]; protein localization to kinetochore [GO:0034501]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q96EA4-1; Sequence=Displayed; Name=2; IsoId=Q96EA4-2; Sequence=VSP_022777; Name=3; IsoId=Q96EA4-3; Sequence=VSP_054244; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton, microtubule organizing center, centrosome. Chromosome, centromere, kinetochore. Nucleus. Cytoplasm, cytoskeleton, spindle pole. Note=Localizes to the nucleus in interphase and to the kinetochore in early prometaphase. Relocalizes to the mitotic spindle pole before metaphase and is subsequently lost from the spindle poles after chromosome congression is completed. Removal of this protein from the kinetochore requires the dynein/dynactin complex.


uniprotID: Q86TG1
geneSymbol: TMEM150A
name: Transmembrane protein 150A (Transmembrane protein 150)
length: 271
go: ENSG00000168890;
sequence:

opentargets:
integral component of plasma membrane [GO:0005887]; lysosome [GO:0005764]; catabolic process [GO:0009056]; phosphatidylinositol phosphorylation [GO:0046854]; protein localization to plasma membrane [GO:0072659]; regulation of autophagy [GO:0010506]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q86TG1-1; Sequence=Displayed; Name=2; IsoId=Q86TG1-2; Sequence=VSP_022874, VSP_022875; 

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:25608530}; Multi-pass membrane protein {ECO:0000269|PubMed:25608530}. Note=Localizes mainly at the plasma membrane; only a minor fraction localizes on intracellular structures (PubMed:25608530). {ECO:0000269|PubMed:25608530}.


uniprotID: Q5MJ70
geneSymbol: SPDYA
pdb: 5UQ1;5UQ2;5UQ3;
length: 313
go: ENSG00000163806;
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:11980914, ECO:0000269|PubMed:12972555}.
name:
Speedy protein A (Rapid inducer of G2/M progression in oocytes A) (RINGO A) (hSpy/Ringo A) (Speedy-1) (Spy1)

sequence:

opentargets:
nucleoplasm [GO:0005654]; nucleus [GO:0005634]; protein kinase activator activity [GO:0030295]; protein kinase binding [GO:0019901]; cellular response to DNA damage stimulus [GO:0006974]; G1/S transition of mitotic cell cycle [GO:0000082]; male meiotic nuclear division [GO:0007140]; multicellular organism development [GO:0007275]; positive regulation of cell proliferation [GO:0008284]; positive regulation of cyclin-dependent protein serine/threonine kinase activity [GO:0045737]; positive regulation of protein kinase activity [GO:0045860]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=2 {ECO:0000269|PubMed:15611625, ECO:0000269|PubMed:15815621}; Synonyms=A2 {ECO:0000269|PubMed:15611625}; IsoId=Q5MJ70-2; Sequence=Displayed; Name=1 {ECO:0000269|PubMed:15611625}; Synonyms=A1 {ECO:0000269|PubMed:15611625}; IsoId=Q5MJ70-1; Sequence=VSP_052027, VSP_052028; 


uniprotID: P0CG40
geneSymbol: SP9
name: Transcription factor Sp9
length: 484
go: ENSG00000217236;
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]; embryonic limb morphogenesis [GO:0030326]; regulation of transcription by RNA polymerase II [GO:0006357]


uniprotID: Q8WVE7
geneSymbol: TMEM170A
name: Transmembrane protein 170A
length: 144
go: ENSG00000166822;
sequence:
MEREGSGGSGGSAGLLQQILSLKVVPRVGNGTLCPNSTSLCSFPEMWYGVFLWALVSSLFFHVPAGLLALFTLRHHKYGRFMSVSILLMGIVGPITAGILTSAAIAGVYRAAGKEMIPFEALTLGTGQTFCVLVVSFLRILATL

opentargets:
endoplasmic reticulum membrane [GO:0005789]; integral component of membrane [GO:0016021]; nuclear envelope [GO:0005635]; endoplasmic reticulum tubular network organization [GO:0071786]; nuclear envelope organization [GO:0006998]; nuclear pore complex assembly [GO:0051292]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q8WVE7-1; Sequence=Displayed; Name=2; IsoId=Q8WVE7-2; Sequence=VSP_026229; 

location:
SUBCELLULAR LOCATION: Endoplasmic reticulum membrane {ECO:0000269|PubMed:26906412}; Multi-pass membrane protein {ECO:0000255}. Nucleus envelope {ECO:0000269|PubMed:26906412}.


uniprotID: Q9BUD6
geneSymbol: SPON2
reactome: R-HSA-5083635;R-HSA-5173214;
pdb: 3D34;
name: Spondin-2 (Differentially expressed in cancerous and non-cancerous lung cells 1) (DIL-1) (Mindin)
length: 331
snps: rs6836335 rs922697 rs11247975 rs2279279
location: SUBCELLULAR LOCATION: Secreted, extracellular space, extracellular matrix {ECO:0000250}.
sequence:

opentargets:
extracellular exosome [GO:0070062]; extracellular matrix [GO:0031012]; antigen binding [GO:0003823]; lipopolysaccharide binding [GO:0001530]; metal ion binding [GO:0046872]; axon guidance [GO:0007411]; cell adhesion [GO:0007155]; cellular response to lipopolysaccharide [GO:0071222]; defense response to fungus [GO:0050832]; defense response to virus [GO:0051607]; induction of bacterial agglutination [GO:0043152]; innate immune response [GO:0045087]; mast cell mediated immunity [GO:0002448]; opsonization [GO:0008228]; positive regulation of interleukin-6 production [GO:0032755]; positive regulation of macrophage cytokine production [GO:0060907]; positive regulation of tumor necrosis factor production [GO:0032760]


uniprotID: Q9NRA0
geneSymbol: SPHK2
reactome: R-HSA-1660661;
name: Sphingosine kinase 2 (SK 2) (SPK 2) (EC 2.7.1.91)
length: 654
go: ENSG00000063176;
snps: rs11881285
sequence:

opentargets:
cytosol [GO:0005829]; intracellular membrane-bounded organelle [GO:0043231]; lysosomal membrane [GO:0005765]; membrane [GO:0016020]; ATP binding [GO:0005524]; D-erythro-sphingosine kinase activity [GO:0017050]; NAD+ kinase activity [GO:0003951]; Ras GTPase binding [GO:0017016]; sphinganine kinase activity [GO:0008481]; sphingosine-1-phosphate receptor activity [GO:0038036]; blood vessel development [GO:0001568]; brain development [GO:0007420]; cell proliferation [GO:0008283]; female pregnancy [GO:0007565]; negative regulation of apoptotic process [GO:0043066]; positive regulation of cell proliferation [GO:0008284]; sphinganine-1-phosphate biosynthetic process [GO:0006669]; sphingolipid biosynthetic process [GO:0030148]; sphingosine biosynthetic process [GO:0046512]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=5;  Comment=Experimental confirmation may be lacking for some isoforms.; Name=1; IsoId=Q9NRA0-1; Sequence=Displayed; Name=2; IsoId=Q9NRA0-2; Sequence=VSP_006217; Name=3; IsoId=Q9NRA0-3; Sequence=VSP_006217, VSP_006218; Name=4; IsoId=Q9NRA0-4; Sequence=VSP_046910; Note=No experimental confirmation available.; Name=5; IsoId=Q9NRA0-5; Sequence=VSP_047721, VSP_047722; 

location:
SUBCELLULAR LOCATION: Isoform 1: Cytoplasm. Membrane.; SUBCELLULAR LOCATION: Isoform 2: Lysosome membrane.


uniprotID: P51688
geneSymbol: SGSH
reactome: R-HSA-2024096;R-HSA-2206307;
pdb: 4MHX;4MIV;
name: N-sulphoglucosamine sulphohydrolase (EC 3.10.1.1) (Sulfoglucosamine sulfamidase) (Sulphamidase)
length: 502
go: ENSG00000181523;
location: SUBCELLULAR LOCATION: Lysosome {ECO:0000269|PubMed:15146460}.
sequence:

opentargets:
extracellular exosome [GO:0070062]; lysosomal lumen [GO:0043202]; lysosome [GO:0005764]; metal ion binding [GO:0046872]; N-sulfoglucosamine sulfohydrolase activity [GO:0016250]; sulfuric ester hydrolase activity [GO:0008484]; glycosaminoglycan catabolic process [GO:0006027]; heparan sulfate proteoglycan catabolic process [GO:0030200]

snps:
rs139850991 rs1057521146 rs104894637 rs104894636 rs778336949 rs779703983 rs1299601360 rs774010006 rs761607612 rs104894642 rs370636303 rs775112689 rs749358773 rs104894638 rs774773010 rs529855742 rs753666460 rs104894643 rs774602372 rs113641837 rs753472891 rs763800418 rs104894635 rs144461610 rs1046551417 rs143947056 rs138504221 rs745884647 rs758756630 rs766938111 rs9894254 rs104894640 rs58786455 rs772311757 rs746037899 rs144143780 rs62620232 rs764057581 rs34297805 rs104894641 rs777267343 rs104894639 rs7503034 rs1064795109 


uniprotID: O60880
geneSymbol: SH2D1A
reactome: R-HSA-198933;
pdb: 1D1Z;1D4T;1D4W;1KA6;1KA7;1M27;
length: 128
go: ENSG00000183918;
snps: rs111033624 rs111033630 rs111033627 rs111033626
location: SUBCELLULAR LOCATION: Cytoplasm {ECO:0000305}.
name:
SH2 domain-containing protein 1A (Duncan disease SH2-protein) (Signaling lymphocytic activation molecule-associated protein) (SLAM-associated protein) (T-cell signal transduction molecule SAP)

sequence:
MDAVAVYHGKISRETGEKLLLATGLDGSYLLRDSESVPGVYCLCVLYHGYIYTYRVSQTETGSWSAETAPGVHKRYFRKIKNLISAFQKPDQGIVIPLQYPVEKKSSARSTQGTTGIREDPDVCLKAP

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; SH3/SH2 adaptor activity [GO:0005070]; adaptive immune response [GO:0002250]; cell-cell signaling [GO:0007267]; cellular defense response [GO:0006968]; humoral immune response [GO:0006959]; innate immune response [GO:0045087]; positive regulation of natural killer cell mediated cytotoxicity [GO:0045954]; regulation of immune response [GO:0050776]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=6;  Name=A; IsoId=O60880-1; Sequence=Displayed; Name=B; IsoId=O60880-2; Sequence=VSP_004386; Name=C; IsoId=O60880-3; Sequence=VSP_004387; Name=D; IsoId=O60880-4; Sequence=VSP_004390; Name=E; IsoId=O60880-5; Sequence=VSP_004388; Name=F; IsoId=O60880-6; Sequence=VSP_004389; 


uniprotID: Q96B97
geneSymbol: SH3KBP1
reactome: R-HSA-182971;R-HSA-6807004;R-HSA-8856825;R-HSA-8856828;R-HSA-8866376;R-HSA-8875360;R-HSA-983695;
pdb: 2BZ8;2K6D;2K9G;2N64;2O2O;2YDL;5ABS;
length: 665
go: ENSG00000147010;
snps: rs1310665369
name:
SH3 domain-containing kinase-binding protein 1 (CD2-binding protein 3) (CD2BP3) (Cbl-interacting protein of 85 kDa) (Human Src family kinase-binding protein 1) (HSB-1)

sequence:

opentargets:
cell-cell junction [GO:0005911]; cytoplasm [GO:0005737]; cytoplasmic vesicle membrane [GO:0030659]; cytoskeleton [GO:0005856]; cytosol [GO:0005829]; endocytic vesicle [GO:0030139]; focal adhesion [GO:0005925]; neuron projection [GO:0043005]; plasma membrane [GO:0005886]; synapse [GO:0045202]; SH3 domain binding [GO:0017124]; apoptotic process [GO:0006915]; axon guidance [GO:0007411]; cell migration [GO:0016477]; cell-cell signaling [GO:0007267]; cytoskeleton organization [GO:0007010]; endocytosis [GO:0006897]; membrane organization [GO:0061024]; negative regulation of epidermal growth factor receptor signaling pathway [GO:0042059]; regulation of cell shape [GO:0008360]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q96B97-1; Sequence=Displayed; Note=Interacts with CBL.; Name=2; IsoId=Q96B97-2; Sequence=VSP_007504; Note=Interacts with CD2 cytoplasmic tail and does not interact with F-actin.; Name=3; IsoId=Q96B97-3; Sequence=VSP_044655, VSP_044656; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:20221403}. Cytoplasm, cytoskeleton. Cytoplasmic vesicle membrane; Peripheral membrane protein. Cell junction, synapse, synaptosome. Cell junction, focal adhesion {ECO:0000250}. Note=Localized in endocytic vesicles containing clustered receptors. Colocalizes with ASAP1 in vesicular structures. Colocalized with actin microfilaments and focal adhesions (By similarity). Colocalized with MAGI2 in synaptosomes. Translocation to EGFR containing vesicles upon EGF stimulation is inhibited in the presence of SH3KBP1 (By similarity). Colocalizes with ZFP36 in the cytoplasm (PubMed:20221403). {ECO:0000250|UniProtKB:Q8R550, ECO:0000269|PubMed:20221403}.


uniprotID: Q9NP31
geneSymbol: SH2D2A
reactome: R-HSA-4420097;
length: 389
go: ENSG00000027869;
snps: rs926103 rs12072861
location: SUBCELLULAR LOCATION: Cytoplasm.
name:
SH2 domain-containing protein 2A (SH2 domain-containing adapter protein) (T cell-specific adapter protein) (TSAd) (VEGF receptor-associated protein)

sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; SH3 domain binding [GO:0017124]; SH3/SH2 adaptor activity [GO:0005070]; angiogenesis [GO:0001525]; cell differentiation [GO:0030154]; cell proliferation [GO:0008283]; signal transduction [GO:0007165]; vascular endothelial growth factor receptor signaling pathway [GO:0048010]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=2; IsoId=Q9NP31-1; Sequence=Displayed; Name=1; IsoId=Q9NP31-2; Sequence=VSP_003966; Name=3; IsoId=Q9NP31-3; Sequence=VSP_003965; Name=4; IsoId=Q9NP31-4; Sequence=VSP_046378; 


uniprotID: Q9UJC5
geneSymbol: SH3BGRL2
pdb: 2CT6;
name: SH3 domain-binding glutamic acid-rich-like protein 2 (Fovea-associated SH3 domain-binding protein)
length: 107
go: ENSG00000198478;
opentargets: nuclear membrane [GO:0031965]; nucleoplasm [GO:0005654]; SH3 domain binding [GO:0017124]
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:12095696}.
sequence:
MVIRVFIASSSGFVAIKKKQQDVVRFLEANKIEFEEVDITMSEEQRQWMYKNVPPEKKPTQGNPLPPQIFNGDRYCGDYDSFFESKESNTVFSFLGLKPRLASKAEP


uniprotID: Q8N2H4
geneSymbol: SYS1
reactome: R-HSA-6811440;
name: Protein SYS1 homolog
length: 156
go: ENSG00000204070;
sequence:
MAGQFRSYVWDPLLILSQIVLMQTVYYGSLGLWLALVDGLVRSSPSLDQMFDAEILGFSTPPGRLSMMSFILNALTCALGLLYFIRRGKQCLDFTVTVHFFHLLGCWFYSSRFPSALTWWLVQAVCIALMAVIGEYLCMRTELKEIPLNSAPKSNV

opentargets:
cytosol [GO:0005829]; integral component of Golgi membrane [GO:0030173]; trans-Golgi network [GO:0005802]; trans-Golgi network membrane [GO:0032588]; Golgi to endosome transport [GO:0006895]; Golgi to plasma membrane protein transport [GO:0043001]; protein localization to Golgi apparatus [GO:0034067]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q8N2H4-1; Sequence=Displayed; Name=2; IsoId=Q8N2H4-2; Sequence=VSP_044540; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Golgi apparatus membrane {ECO:0000269|PubMed:15077113}; Multi-pass membrane protein {ECO:0000269|PubMed:15077113}.


uniprotID: Q96EB6
geneSymbol: SIRT1
reactome: R-HSA-3371453;R-HSA-400253;R-HSA-427359;
pdb: 4I5I;4IF6;4IG9;4KXQ;4ZZH;4ZZI;4ZZJ;5BTR;
length: 747
go: ENSG00000096717;
drug: DB05073;
snps: rs35671182 rs1063111
name:
NAD-dependent protein deacetylase sirtuin-1 (hSIRT1) (EC 3.5.1.-) (Regulatory protein SIR2 homolog 1) (SIR2-like protein 1) (hSIR2) [Cleaved into: SirtT1 75 kDa fragment (75SirT1)]

sequence:

opentargets:
chromatin silencing complex [GO:0005677]; cytoplasm [GO:0005737]; cytosol [GO:0005829]; mitochondrion [GO:0005739]; nuclear chromatin [GO:0000790]; nuclear envelope [GO:0005635]; nuclear euchromatin [GO:0005719]; nuclear heterochromatin [GO:0005720]; nuclear inner membrane [GO:0005637]; nucleolus [GO:0005730]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; PML body [GO:0016605]; rDNA heterochromatin [GO:0033553]; bHLH transcription factor binding [GO:0043425]; deacetylase activity [GO:0019213]; enzyme binding [GO:0019899]; histone binding [GO:0042393]; histone deacetylase activity [GO:0004407]; HLH domain binding [GO:0043398]; identical protein binding [GO:0042802]; keratin filament binding [GO:1990254]; metal ion binding [GO:0046872]; mitogen-activated protein kinase binding [GO:0051019]; NAD+ binding [GO:0070403]; NAD-dependent histone deacetylase activity [GO:0017136]; NAD-dependent histone deacetylase activity (H3-K9 specific) [GO:0046969]; NAD-dependent protein deacetylase activity [GO:0034979]; nuclear hormone receptor binding [GO:0035257]; p53 binding [GO:0002039]; protein C-terminus binding [GO:0008022]; protein deacetylase activity [GO:0033558]; protein domain specific binding [GO:0019904]; proximal promoter DNA-binding transcription activator activity, RNA polymerase II-specific [GO:0001077]; RNA polymerase II distal enhancer sequence-specific DNA binding [GO:0000980]; transcription corepressor activity [GO:0003714]; transcription factor binding [GO:0008134]; angiogenesis [GO:0001525]; behavioral response to starvation [GO:0042595]; cell aging [GO:0007569]; cellular glucose homeostasis [GO:0001678]; cellular response to DNA damage stimulus [GO:0006974]; cellular response to hydrogen peroxide [GO:0070301]; cellular response to hypoxia [GO:0071456]; cellular response to ionizing radiation [GO:0071479]; cellular response to leukemia inhibitory factor [GO:1990830]; cellular response to starvation [GO:0009267]; cellular response to tumor necrosis factor [GO:0071356]; cellular triglyceride homeostasis [GO:0035356]; cholesterol homeostasis [GO:0042632]; chromatin organization [GO:0006325]; chromatin silencing [GO:0006342]; chromatin silencing at rDNA [GO:0000183]; circadian regulation of gene expression [GO:0032922]; DNA synthesis involved in DNA repair [GO:0000731]; establishment of chromatin silencing [GO:0006343]; fatty acid homeostasis [GO:0055089]; histone deacetylation [GO:0016575]; histone H3 deacetylation [GO:0070932]; intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator [GO:0042771]; leptin-mediated signaling pathway [GO:0033210]; macrophage cytokine production [GO:0010934]; macrophage differentiation [GO:0030225]; maintenance of chromatin silencing [GO:0006344]; methylation-dependent chromatin silencing [GO:0006346]; muscle organ development [GO:0007517]; negative regulation of androgen receptor signaling pathway [GO:0060766]; negative regulation of apoptotic process [GO:0043066]; negative regulation of cAMP-dependent protein kinase activity [GO:2000480]; negative regulation of cell growth [GO:0030308]; negative regulation of cellular response to testosterone stimulus [GO:2000655]; negative regulation of cellular senescence [GO:2000773]; negative regulation of DNA damage response, signal transduction by p53 class mediator [GO:0043518]; negative regulation of DNA-binding transcription factor activity [GO:0043433]; negative regulation of fat cell differentiation [GO:0045599]; negative regulation of gene expression [GO:0010629]; negative regulation of helicase activity [GO:0051097]; negative regulation of histone H3-K14 acetylation [GO:0071441]; negative regulation of histone H3-K9 trimethylation [GO:1900113]; negative regulation of histone H4-K16 acetylation [GO:2000619]; negative regulation of I-kappaB kinase/NF-kappaB signaling [GO:0043124]; negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator [GO:1902166]; negative regulation of neuron death [GO:1901215]; negative regulation of NF-kappaB transcription factor activity [GO:0032088]; negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway [GO:1902176]; negative regulation of peptidyl-lysine acetylation [GO:2000757]; negative regulation of phosphorylation [GO:0042326]; negative regulation of prostaglandin biosynthetic process [GO:0031393]; negative regulation of protein acetylation [GO:1901984]; negative regulation of protein kinase B signaling [GO:0051898]; negative regulation of TOR signaling [GO:0032007]; negative regulation of transcription by RNA polymerase II [GO:0000122]; negative regulation of transcription, DNA-templated [GO:0045892]; negative regulation of transforming growth factor beta receptor signaling pathway [GO:0030512]; ovulation from ovarian follicle [GO:0001542]; peptidyl-lysine acetylation [GO:0018394]; peptidyl-lysine deacetylation [GO:0034983]; positive regulation of adaptive immune response [GO:0002821]; positive regulation of adipose tissue development [GO:1904179]; positive regulation of angiogenesis [GO:0045766]; positive regulation of apoptotic process [GO:0043065]; positive regulation of blood vessel endothelial cell migration [GO:0043536]; positive regulation of cAMP-dependent protein kinase activity [GO:2000481]; positive regulation of cell proliferation [GO:0008284]; positive regulation of cellular senescence [GO:2000774]; positive regulation of cholesterol efflux [GO:0010875]; positive regulation of chromatin silencing [GO:0031937]; positive regulation of cysteine-type endopeptidase activity involved in apoptotic process [GO:0043280]; positive regulation of DNA repair [GO:0045739]; positive regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway [GO:1902237]; positive regulation of endothelial cell proliferation [GO:0001938]; positive regulation of histone H3-K9 methylation [GO:0051574]; positive regulation of insulin receptor signaling pathway [GO:0046628]; positive regulation of macroautophagy [GO:0016239]; positive regulation of macrophage apoptotic process [GO:2000111]; positive regulation of MHC class II biosynthetic process [GO:0045348]; positive regulation of phosphatidylinositol 3-kinase signaling [GO:0014068]; positive regulation of protein phosphorylation [GO:0001934]; positive regulation of smooth muscle cell differentiation [GO:0051152]; positive regulation of transcription by RNA polymerase II [GO:0045944]; proteasome-mediated ubiquitin-dependent protein catabolic process [GO:0043161]; protein deacetylation [GO:0006476]; protein destabilization [GO:0031648]; protein ubiquitination [GO:0016567]; pyrimidine dimer repair by nucleotide-excision repair [GO:0000720]; regulation of apoptotic process [GO:0042981]; regulation of bile acid biosynthetic process [GO:0070857]; regulation of brown fat cell differentiation [GO:0090335]; regulation of cell proliferation [GO:0042127]; regulation of cellular response to heat [GO:1900034]; regulation of endodeoxyribonuclease activity [GO:0032071]; regulation of glucose metabolic process [GO:0010906]; regulation of lipid storage [GO:0010883]; regulation of mitotic cell cycle [GO:0007346]; regulation of peroxisome proliferator activated receptor signaling pathway [GO:0035358]; regulation of protein import into nucleus, translocation [GO:0033158]; regulation of protein serine/threonine kinase activity [GO:0071900]; regulation of smooth muscle cell apoptotic process [GO:0034391]; response to hydrogen peroxide [GO:0042542]; response to insulin [GO:0032868]; response to leptin [GO:0044321]; response to oxidative stress [GO:0006979]; rRNA processing [GO:0006364]; single strand break repair [GO:0000012]; spermatogenesis [GO:0007283]; stress-induced premature senescence [GO:0090400]; transforming growth factor beta receptor signaling pathway [GO:0007179]; triglyceride mobilization [GO:0006642]; UV-damage excision repair [GO:0070914]; viral process [GO:0016032]; white fat cell differentiation [GO:0050872]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q96EB6-1; Sequence=Displayed; Name=2; Synonyms=delta-exon8; IsoId=Q96EB6-2; Sequence=VSP_042189; 

location:
SUBCELLULAR LOCATION: Nucleus, PML body {ECO:0000269|PubMed:12006491}. Cytoplasm {ECO:0000269|PubMed:20027304}. Nucleus {ECO:0000269|PubMed:11672523, ECO:0000269|PubMed:15469825, ECO:0000269|PubMed:16079181, ECO:0000269|PubMed:19934257, ECO:0000269|PubMed:20027304, ECO:0000269|PubMed:20167603, ECO:0000269|PubMed:20955178}. Note=Recruited to the nuclear bodies via its interaction with PML (PubMed:12006491). Colocalized with APEX1 in the nucleus (PubMed:19934257). May be found in nucleolus, nuclear euchromatin, heterochromatin and inner membrane (PubMed:15469825). Shuttles between nucleus and cytoplasm (By similarity). Colocalizes in the nucleus with XBP1 isoform 2 (PubMed:20955178). {ECO:0000250|UniProtKB:Q923E4, ECO:0000269|PubMed:12006491, ECO:0000269|PubMed:15469825, ECO:0000269|PubMed:19934257, ECO:0000269|PubMed:20955178}.; SUBCELLULAR LOCATION: SirtT1 75 kDa fragment: Cytoplasm {ECO:0000269|PubMed:21987377}. Mitochondrion {ECO:0000269|PubMed:21987377}.


uniprotID: Q9H106
geneSymbol: SIRPD
length: 197
go: ENSG00000125900;
opentargets: extracellular region [GO:0005576]; plasma membrane [GO:0005886]
snps: rs2249317
location: SUBCELLULAR LOCATION: Secreted {ECO:0000305}.
name:
Signal-regulatory protein delta (SIRP-delta) (Protein tyrosine phosphatase non-receptor type substrate 1-like 2)

sequence:
MPIPASPLHPPLPSLLLYLLLELAGVTHVFHVQQTEMSQTVSTGESIILSCSVPNTLPNGPVLWFKGTGPNRKLIYNFKQGNFPRVKEIGDTTKPGNTDFSTRIREISLADAGTYYCVKFIKGRAIKEYQSGRGTQVFVTEQNPRPPKNRPAGRAGSRAHHDAHTCLSALPERNSTNYFVQPCCCLRLLGLTGLLSK


uniprotID: Q9NP81
geneSymbol: SARS2
reactome: R-HSA-379726;
length: 518
go: ENSG00000104835;
snps: rs34264048 rs34050897 rs727502784
location: SUBCELLULAR LOCATION: Mitochondrion matrix {ECO:0000250|UniProtKB:Q9N0F3}.
name:
Serine--tRNA ligase, mitochondrial (EC 6.1.1.11) (SerRSmt) (Seryl-tRNA synthetase) (SerRS) (Seryl-tRNA(Ser/Sec) synthetase)

sequence:

opentargets:
cytoplasm [GO:0005737]; mitochondrial matrix [GO:0005759]; mitochondrion [GO:0005739]; ATP binding [GO:0005524]; RNA binding [GO:0003723]; serine-tRNA ligase activity [GO:0004828]; selenocysteinyl-tRNA(Sec) biosynthetic process [GO:0097056]; seryl-tRNA aminoacylation [GO:0006434]; tRNA aminoacylation for protein translation [GO:0006418]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9NP81-1; Sequence=Displayed; Name=2; IsoId=Q9NP81-2; Sequence=VSP_043020; Note=No experimental confirmation available.; 


uniprotID: Q9Y3P8
geneSymbol: SIT1
length: 196
go: ENSG00000137078;
name:
Signaling threshold-regulating transmembrane adapter 1 (SHP2-interacting transmembrane adapter protein) (Suppression-inducing transmembrane adapter 1) (gp30/40)

sequence:
MNQADPRLRAVCLWTLTSAAMSRGDNCTDLLALGIPSITQAWGLWVLLGAVTLLFLISLAAHLSQWTRGRSRSHPGQGRSGESVEEVPLYGNLHYLQTGRLSQDPEPDQQDPTLGGPARAAEEVMCYTSLQLRPPQGRIPGPGTPVKYSEVVLDSEPKSQASGPEPELYASVCAQTRRARASFPDQAYANSQPAAS

opentargets:
extracellular exosome [GO:0070062]; integral component of plasma membrane [GO:0005887]; plasma membrane [GO:0005886]; kinase binding [GO:0019900]; SH2 domain binding [GO:0042169]; adaptive immune response [GO:0002250]; regulation of T cell activation [GO:0050863]; signal transduction [GO:0007165]; T cell homeostasis [GO:0043029]

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:10209036}; Single-pass type I membrane protein {ECO:0000269|PubMed:10209036}.


uniprotID: Q15475
geneSymbol: SIX1
pdb: 4EGC;
name: Homeobox protein SIX1 (Sine oculis homeobox homolog 1)
length: 284
go: ENSG00000126778;
sequence:

opentargets:
cytoplasm [GO:0005737]; nucleolus [GO:0005730]; nucleus [GO:0005634]; transcription factor complex [GO:0005667]; chromatin binding [GO:0003682]; distal enhancer DNA-binding transcription activator activity, RNA polymerase II-specific [GO:0001205]; DNA binding [GO:0003677]; DNA-binding transcription factor activity [GO:0003700]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; proximal promoter DNA-binding transcription activator activity, RNA polymerase II-specific [GO:0001077]; RNA polymerase II proximal promoter sequence-specific DNA binding [GO:0000978]; sequence-specific DNA binding [GO:0043565]; transcription coactivator binding [GO:0001223]; transcription regulatory region DNA binding [GO:0044212]; transcription regulatory region sequence-specific DNA binding [GO:0000976]; anatomical structure development [GO:0048856]; aorta morphogenesis [GO:0035909]; apoptotic process [GO:0006915]; branching involved in ureteric bud morphogenesis [GO:0001658]; cell proliferation [GO:0008283]; cellular response to 3,3',5-triiodo-L-thyronine [GO:1905243]; cochlea morphogenesis [GO:0090103]; embryonic cranial skeleton morphogenesis [GO:0048701]; embryonic skeletal system morphogenesis [GO:0048704]; epithelial cell differentiation [GO:0030855]; facial nerve morphogenesis [GO:0021610]; fungiform papilla morphogenesis [GO:0061197]; generation of neurons [GO:0048699]; inner ear development [GO:0048839]; inner ear morphogenesis [GO:0042472]; kidney development [GO:0001822]; mesonephric tubule formation [GO:0072172]; metanephric mesenchyme development [GO:0072075]; middle ear morphogenesis [GO:0042474]; myoblast migration [GO:0051451]; myotome development [GO:0061055]; negative regulation of branching involved in ureteric bud morphogenesis [GO:0090191]; negative regulation of neuron apoptotic process [GO:0043524]; negative regulation of transcription by RNA polymerase II [GO:0000122]; negative regulation of transcription, DNA-templated [GO:0045892]; neuron fate specification [GO:0048665]; olfactory placode formation [GO:0030910]; organ induction [GO:0001759]; otic vesicle development [GO:0071599]; outflow tract morphogenesis [GO:0003151]; pattern specification process [GO:0007389]; pharyngeal system development [GO:0060037]; positive regulation of branching involved in ureteric bud morphogenesis [GO:0090190]; positive regulation of mesenchymal cell proliferation involved in ureter development [GO:2000729]; positive regulation of secondary heart field cardioblast proliferation [GO:0072513]; positive regulation of transcription by RNA polymerase II [GO:0045944]; positive regulation of transcription, DNA-templated [GO:0045893]; positive regulation of ureteric bud formation [GO:0072107]; protein localization to nucleus [GO:0034504]; regulation of branch elongation involved in ureteric bud branching [GO:0072095]; regulation of epithelial cell proliferation [GO:0050678]; regulation of neuron differentiation [GO:0045664]; regulation of protein localization [GO:0032880]; regulation of skeletal muscle cell differentiation [GO:2001014]; regulation of skeletal muscle satellite cell proliferation [GO:0014842]; regulation of synaptic growth at neuromuscular junction [GO:0008582]; regulation of transcription, DNA-templated [GO:0006355]; sensory perception of sound [GO:0007605]; skeletal muscle tissue development [GO:0007519]; thymus development [GO:0048538]; thyroid gland development [GO:0030878]; trigeminal ganglion development [GO:0061551]; ureter smooth muscle cell differentiation [GO:0072193]; ureteric bud development [GO:0001657]

snps:
rs397515562 rs17850414 rs397515560 rs1064794308 rs80356459 rs397515561 rs121909770 rs104894478 rs368974927 

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:10801845, ECO:0000269|PubMed:17130831, ECO:0000269|PubMed:19497856}. Cytoplasm.


