# annotation

uniprotID: Q2M3G4
geneSymbol: SHROOM1
name: Protein Shroom1 (Apical protein 2)
length: 852
go: ENSG00000164403;
snps: rs2292030
location: SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton {ECO:0000250}.
sequence:

opentargets:
adherens junction [GO:0005912]; apical junction complex [GO:0043296]; apical plasma membrane [GO:0016324]; cortical actin cytoskeleton [GO:0030864]; microtubule [GO:0005874]; actin filament binding [GO:0051015]; myosin II binding [GO:0045159]; actin cytoskeleton organization [GO:0030036]; actin filament bundle assembly [GO:0051017]; actin filament organization [GO:0007015]; cell morphogenesis [GO:0000902]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q2M3G4-1; Sequence=Displayed; Name=2; IsoId=Q2M3G4-2; Sequence=VSP_024962; 


uniprotID: Q13796
geneSymbol: SHROOM2
pdb: 5F4Y;5F5P;
name: Protein Shroom2 (Apical-like protein) (Protein APXL)
length: 1616
go: ENSG00000146950;
snps: rs16985780 rs1033602309 rs12012202 rs2073942
sequence:

opentargets:
adherens junction [GO:0005912]; apical junction complex [GO:0043296]; apical plasma membrane [GO:0016324]; bicellular tight junction [GO:0005923]; cell-cell adherens junction [GO:0005913]; cortical actin cytoskeleton [GO:0030864]; cytoskeleton [GO:0005856]; extracellular exosome [GO:0070062]; microtubule [GO:0005874]; plasma membrane [GO:0005886]; actin binding [GO:0003779]; actin filament binding [GO:0051015]; beta-catenin binding [GO:0008013]; ligand-gated sodium channel activity [GO:0015280]; actin cytoskeleton organization [GO:0030036]; actin filament organization [GO:0007015]; apical protein localization [GO:0045176]; brain development [GO:0007420]; camera-type eye development [GO:0043010]; camera-type eye morphogenesis [GO:0048593]; cell migration [GO:0016477]; cellular pigment accumulation [GO:0043482]; ear development [GO:0043583]; establishment of melanosome localization [GO:0032401]; eye pigment granule organization [GO:0008057]; lens morphogenesis in camera-type eye [GO:0002089]; melanosome organization [GO:0032438]

location:
SUBCELLULAR LOCATION: Apical cell membrane {ECO:0000250}. Cell junction, tight junction {ECO:0000250}. Cytoplasm, cytoskeleton {ECO:0000250}. Note=Associates with cortical F-actin. {ECO:0000250}.


uniprotID: O43166
geneSymbol: SIPA1L1
reactome: R-HSA-6794361;
length: 1804
go: ENSG00000197555;
snps: rs12884638
name:
Signal-induced proliferation-associated 1-like protein 1 (SIPA1-like protein 1) (High-risk human papilloma viruses E6 oncoproteins targeted protein 1) (E6-targeted protein 1)

sequence:

opentargets:
cell junction [GO:0030054]; cytoplasm [GO:0005737]; cytoskeleton [GO:0005856]; dendritic spine [GO:0043197]; postsynaptic density [GO:0014069]; postsynaptic membrane [GO:0045211]; ephrin receptor binding [GO:0046875]; GTPase activator activity [GO:0005096]; actin cytoskeleton reorganization [GO:0031532]; activation of GTPase activity [GO:0090630]; ephrin receptor signaling pathway [GO:0048013]; regulation of axonogenesis [GO:0050770]; regulation of dendritic spine morphogenesis [GO:0061001]; regulation of GTPase activity [GO:0043087]; regulation of small GTPase mediated signal transduction [GO:0051056]; regulation of synaptic plasticity [GO:0048167]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; Synonyms=E6TP1 beta; IsoId=O43166-1; Sequence=Displayed; Name=2; Synonyms=E6TP1 alpha; IsoId=O43166-2; Sequence=VSP_010917; Name=3; IsoId=O43166-3; Sequence=VSP_010917, VSP_054774; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton {ECO:0000250}. Cell junction, synapse, postsynaptic cell membrane, postsynaptic density {ECO:0000250}. Cell junction, synapse, synaptosome {ECO:0000250}. Note=Associated with the actin cytoskeleton. Detected at synapses and dendritic spines of cultured hippocampal neurons (By similarity). {ECO:0000250}.


uniprotID: Q9ULL8
geneSymbol: SHROOM4
pdb: 2EDP;
name: Protein Shroom4 (Second homolog of apical protein)
length: 1493
go: ENSG00000158352;
snps: rs189694750 rs150861758 rs3761506 rs3761505 rs2281571 rs121434620 rs28362302
sequence:

opentargets:
actin filament [GO:0005884]; adherens junction [GO:0005912]; apical junction complex [GO:0043296]; apical plasma membrane [GO:0016324]; basal plasma membrane [GO:0009925]; cortical actin cytoskeleton [GO:0030864]; cytoplasm [GO:0005737]; cytoplasmic side of plasma membrane [GO:0009898]; stress fiber [GO:0001725]; actin filament binding [GO:0051015]; myosin II binding [GO:0045159]; actin cytoskeleton organization [GO:0030036]; actin filament organization [GO:0007015]; brain development [GO:0007420]; cognition [GO:0050890]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; Synonyms=SHAP-B; IsoId=Q9ULL8-1; Sequence=Displayed; Name=2; Synonyms=SHAP-A; IsoId=Q9ULL8-2; Sequence=VSP_025290; 

location:
SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton {ECO:0000269|PubMed:16249884, ECO:0000269|PubMed:16684770}. Note=Shows partial colocalization with the cytoplasmic pool of F-actin.


uniprotID: O15466
geneSymbol: ST8SIA5
reactome: R-HSA-4085001;
length: 376
go: ENSG00000101638;
name:
Alpha-2,8-sialyltransferase 8E (EC 2.4.99.-) (Sialyltransferase 8E) (SIAT8-E) (Sialyltransferase St8Sia V) (ST8SiaV)

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]; carbohydrate metabolic process [GO:0005975]; glycosphingolipid biosynthetic process [GO:0006688]; protein glycosylation [GO:0006486]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=O15466-1; Sequence=Displayed; Name=2; IsoId=O15466-2; Sequence=VSP_056664; Note=No experimental confirmation available.; 


uniprotID: Q08ET2
geneSymbol: SIGLEC14
reactome: R-HSA-2172127;R-HSA-6798695;
name: Sialic acid-binding Ig-like lectin 14 (Siglec-14)
length: 396
go: ENSG00000254415;
sequence:

opentargets:
ficolin-1-rich granule membrane [GO:0101003]; integral component of membrane [GO:0016021]; plasma membrane [GO:0005886]; tertiary granule membrane [GO:0070821]; carbohydrate binding [GO:0030246]; cell adhesion [GO:0007155]; innate immune response [GO:0045087]; neutrophil degranulation [GO:0043312]

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:17012248}; Single-pass type I membrane protein {ECO:0000269|PubMed:17012248}.


uniprotID: A6NMB1
geneSymbol: SIGLEC16
reactome: R-HSA-2172127;
name: Sialic acid-binding Ig-like lectin 16 (Siglec-16) (Siglec-P16)
length: 481
sequence:

opentargets:
plasma membrane [GO:0005886]; spanning component of membrane [GO:0089717]; carbohydrate binding [GO:0030246]; innate immune response [GO:0045087]; multi organism cell adhesion [GO:0098740]; positive regulation of defense response to bacterium [GO:1900426]; positive regulation of interleukin-6 production [GO:0032755]

location:
SUBCELLULAR LOCATION: Membrane {ECO:0000269|PubMed:18629938}; Single-pass type I membrane protein {ECO:0000269|PubMed:18629938}.


uniprotID: Q96JF0
geneSymbol: ST6GAL2
reactome: R-HSA-4085001;
length: 529
go: ENSG00000144057;
snps: rs3796110 rs12615112
name:
Beta-galactoside alpha-2,6-sialyltransferase 2 (Alpha 2,6-ST 2) (EC 2.4.99.1) (CMP-N-acetylneuraminate-beta-galactosamide-alpha-2,6-sialyltransferase 2) (ST6Gal II) (ST6GalII) (hST6Gal II) (Sialyltransferase 2)

sequence:

opentargets:
Golgi cisterna membrane [GO:0032580]; Golgi membrane [GO:0000139]; integral component of membrane [GO:0016021]; beta-galactoside alpha-2,6-sialyltransferase activity [GO:0003835]; oligosaccharide metabolic process [GO:0009311]; protein glycosylation [GO:0006486]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q96JF0-1; Sequence=Displayed; Name=2; IsoId=Q96JF0-2; Sequence=VSP_030356; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Golgi apparatus, Golgi stack membrane {ECO:0000250}; Single-pass type II membrane protein {ECO:0000250}.


uniprotID: Q8IUQ4
geneSymbol: SIAH1
reactome: R-HSA-373752;R-HSA-977225;R-HSA-983168;
pdb: 2A25;4C9Z;4CA1;4I7B;4I7C;4I7D;4X3G;5WZZ;
length: 282
go: ENSG00000196470;
location: SUBCELLULAR LOCATION: Cytoplasm. Nucleus. Note=Predominantly cytoplasmic. Partially nuclear.
name:
E3 ubiquitin-protein ligase SIAH1 (EC 2.3.2.27) (RING-type E3 ubiquitin transferase SIAH1) (Seven in absentia homolog 1) (Siah-1) (Siah-1a)

sequence:

opentargets:
beta-catenin destruction complex [GO:0030877]; cytoplasm [GO:0005737]; cytosol [GO:0005829]; early endosome [GO:0005769]; nucleus [GO:0005634]; plasma membrane [GO:0005886]; identical protein binding [GO:0042802]; protein C-terminus binding [GO:0008022]; ubiquitin conjugating enzyme binding [GO:0031624]; ubiquitin protein ligase activity [GO:0061630]; ubiquitin-protein transferase activity [GO:0004842]; zinc ion binding [GO:0008270]; anatomical structure morphogenesis [GO:0009653]; apoptotic process [GO:0006915]; axon guidance [GO:0007411]; cell cycle [GO:0007049]; cellular protein metabolic process [GO:0044267]; negative regulation of netrin-activated signaling pathway [GO:1902842]; nervous system development [GO:0007399]; neuron apoptotic process [GO:0051402]; positive regulation of apoptotic process [GO:0043065]; positive regulation of intrinsic apoptotic signaling pathway [GO:2001244]; proteasome-mediated ubiquitin-dependent protein catabolic process [GO:0043161]; protein catabolic process [GO:0030163]; protein destabilization [GO:0031648]; protein polyubiquitination [GO:0000209]; spermatogenesis [GO:0007283]; ubiquitin-dependent protein catabolic process [GO:0006511]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q8IUQ4-1; Sequence=Displayed; Name=2; IsoId=Q8IUQ4-2; Sequence=VSP_010166; Name=3; Synonyms=Siah-1S; IsoId=Q8IUQ4-3; Sequence=VSP_029210, VSP_029211; 


uniprotID: O75094
geneSymbol: SLIT3
reactome: R-HSA-373752;R-HSA-376176;R-HSA-428542;
length: 1523
go: ENSG00000184347;
snps: rs891921 rs2288792 rs10036727 rs36052924 rs2305993 rs10072243
location: SUBCELLULAR LOCATION: Secreted {ECO:0000250}.
name:
Slit homolog 3 protein (Slit-3) (Multiple epidermal growth factor-like domains protein 5) (Multiple EGF-like domains protein 5)

sequence:

opentargets:
extracellular space [GO:0005615]; mitochondrion [GO:0005739]; calcium ion binding [GO:0005509]; Roundabout binding [GO:0048495]; aortic valve morphogenesis [GO:0003180]; apoptotic process involved in luteolysis [GO:0061364]; atrioventricular valve morphogenesis [GO:0003181]; axon extension involved in axon guidance [GO:0048846]; axon guidance [GO:0007411]; cellular response to hormone stimulus [GO:0032870]; negative chemotaxis [GO:0050919]; negative regulation of cell growth [GO:0030308]; negative regulation of cell proliferation [GO:0008285]; negative regulation of chemokine-mediated signaling pathway [GO:0070100]; negative regulation of gene expression [GO:0010629]; response to cortisol [GO:0051414]; Roundabout signaling pathway [GO:0035385]; ventricular septum morphogenesis [GO:0060412]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=O75094-1; Sequence=Displayed; Name=2; IsoId=O75094-2; Sequence=VSP_009714; Name=3; IsoId=O75094-3; Sequence=VSP_009715; Name=4; IsoId=O75094-4; Sequence=VSP_054798; Note=No experimental confirmation available.; 


uniprotID: P0C7P3
geneSymbol: SLFN14
length: 912
go: ENSG00000236320;
name:
Protein SLFN14 [Cleaved into: C-terminally truncated SLFN14 endoribonuclease (EC 3.1.-.-) (Schlafen family member 14)]

sequence:

opentargets:
cytoplasm [GO:0005737]; nucleus [GO:0005634]; ATP binding [GO:0005524]; endoribonuclease activity [GO:0004521]; ribosome binding [GO:0043022]; cellular response to magnesium ion [GO:0071286]; cellular response to manganese ion [GO:0071287]; mRNA catabolic process [GO:0006402]; platelet maturation [GO:0036345]; RNA phosphodiester bond hydrolysis, endonucleolytic [GO:0090502]; rRNA catabolic process [GO:0016075]

snps:
rs10512472 rs869320716 rs869320715 rs869320714 rs757188030 rs321612 rs1350011 rs1350010 rs9907259 rs8073060 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P0C7P3-1; Sequence=Displayed; Name=2; IsoId=P0C7P3-2; Sequence=VSP_034414; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Protein SLFN14: Nucleus {ECO:0000269|PubMed:25996083, ECO:0000269|PubMed:26280575}.


uniprotID: Q9NWH9
geneSymbol: SLTM
name: SAFB-like transcription modulator (Modulator of estrogen-induced transcription)
length: 1034
go: ENSG00000137776;
snps: rs7175939
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000250}. Note=Detected in punctate structures. {ECO:0000250}.
sequence:

opentargets:
nuclear body [GO:0016604]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; RNA binding [GO:0003723]; sequence-specific DNA binding [GO:0043565]; apoptotic process [GO:0006915]; regulation of mRNA processing [GO:0050684]; regulation of transcription by RNA polymerase II [GO:0006357]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9NWH9-1; Sequence=Displayed; Name=2; IsoId=Q9NWH9-3; Sequence=VSP_056051; Note=No experimental confirmation available.; 


uniprotID: Q9BQ83
geneSymbol: SLX1A; SLX1B
reactome: R-HSA-5693568;R-HSA-6783310;
name: Structure-specific endonuclease subunit SLX1 (EC 3.1.-.-) (GIY-YIG domain-containing protein 1)
length: 275
go: ENSG00000132207;
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000255|HAMAP-Rule:MF_03100, ECO:0000269|PubMed:19596236}.
sequence:

opentargets:
nucleoplasm [GO:0005654]; Slx1-Slx4 complex [GO:0033557]; 5'-flap endonuclease activity [GO:0017108]; crossover junction endodeoxyribonuclease activity [GO:0008821]; endodeoxyribonuclease activity [GO:0004520]; metal ion binding [GO:0046872]; DNA double-strand break processing involved in repair via single-strand annealing [GO:0010792]; DNA repair [GO:0006281]; double-strand break repair via homologous recombination [GO:0000724]; interstrand cross-link repair [GO:0036297]; negative regulation of telomere maintenance via telomere lengthening [GO:1904357]; positive regulation of t-circle formation [GO:1904431]; t-circle formation [GO:0090656]; telomere maintenance via telomere lengthening [GO:0010833]; telomeric D-loop disassembly [GO:0061820]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9BQ83-1; Sequence=Displayed; Name=2; IsoId=Q9BQ83-2; Sequence=VSP_033331; 


uniprotID: O95347
geneSymbol: SMC2
reactome: R-HSA-2299718;R-HSA-2514853;
pdb: 4U4P;
length: 1197
go: ENSG00000136824;
snps: rs4562395
name:
Structural maintenance of chromosomes protein 2 (SMC protein 2) (SMC-2) (Chromosome-associated protein E) (hCAP-E) (XCAP-E homolog)

sequence:

opentargets:
condensed chromosome [GO:0000793]; condensin complex [GO:0000796]; cytoplasm [GO:0005737]; cytosol [GO:0005829]; extracellular exosome [GO:0070062]; nuclear chromosome [GO:0000228]; nucleolus [GO:0005730]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; ATP binding [GO:0005524]; protein heterodimerization activity [GO:0046982]; single-stranded DNA binding [GO:0003697]; cell division [GO:0051301]; kinetochore organization [GO:0051383]; meiotic chromosome condensation [GO:0010032]; meiotic chromosome segregation [GO:0045132]; mitotic chromosome condensation [GO:0007076]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=O95347-1; Sequence=Displayed; Name=2; IsoId=O95347-2; Sequence=VSP_007243, VSP_007244; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:10958694}. Cytoplasm {ECO:0000269|PubMed:10958694}. Chromosome {ECO:0000269|PubMed:10958694}. Note=In interphase cells, the majority of the condensin complex is found in the cytoplasm, while a minority of the complex is associated with chromatin. A subpopulation of the complex however remains associated with chromosome foci in interphase cells. During mitosis, most of the condensin complex is associated with the chromatin. At the onset of prophase, the regulatory subunits of the complex are phosphorylated by CDC2, leading to condensin's association with chromosome arms and to chromosome condensation. Dissociation from chromosomes is observed in late telophase.


uniprotID: Q9BSF0
geneSymbol: C2orf88
pdb: 5HVZ;
name: Small membrane A-kinase anchor protein (Small membrane AKAP) (smAKAP)
sequence: MGCMKSKQTFPFPTIYEGEKQHESEEPFMPEERCLPRMASPVNVKEEVKEPPGTNTVILEYAHRLSQDILCDALQQWACNNIKYHDIPYIESEGP
length: 95
go: ENSG00000187699;
opentargets: plasma membrane [GO:0005886]; protein kinase A regulatory subunit binding [GO:0034237]
snps: rs6753459
location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:23115245}. Note=The GFP-tagged protein has been detected at the plasma membrane, enriched in filopodia and cell-cell junctions. {ECO:0000269|PubMed:23115245}.


uniprotID: A6NFE2
geneSymbol: SMCO2
name: Single-pass membrane and coiled-coil domain-containing protein 2
length: 343
go: ENSG00000165935;
opentargets: integral component of membrane [GO:0016021]
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Single-pass membrane protein {ECO:0000305}.
sequence:


uniprotID: Q9NZC9
geneSymbol: SMARCAL1
pdb: 4MQV;
length: 954
go: ENSG00000138375;
name:
SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily A-like protein 1 (EC 3.6.4.-) (HepA-related protein) (hHARP) (Sucrose nonfermenting protein 2-like 1)

sequence:

opentargets:
nuclear replication fork [GO:0043596]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; site of double-strand break [GO:0035861]; annealing helicase activity [GO:0036310]; ATP binding [GO:0005524]; DNA-dependent ATPase activity [GO:0008094]; helicase activity [GO:0004386]; cellular response to DNA damage stimulus [GO:0006974]; DNA metabolic process [GO:0006259]; DNA repair [GO:0006281]; DNA rewinding [GO:0036292]; regulation of transcription by RNA polymerase II [GO:0006357]; replication fork processing [GO:0031297]; replication fork protection [GO:0048478]; t-circle formation [GO:0090656]

snps:
rs17851400 rs2066524 rs11555797 rs6734114 rs2066522 rs2066518 rs2066520 rs119473036 rs119473038 rs119473037 rs2066523 rs200644381 rs2271336 rs267607071 rs200666300 

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:19793862, ECO:0000269|PubMed:19793863}. Note=Recruited to damaged DNA regions.


uniprotID: O60264
geneSymbol: SMARCA5
reactome: R-HSA-427413;R-HSA-5250924;R-HSA-5693565;R-HSA-606279;
length: 1052
go: ENSG00000153147;
drug: DB02670;DB02379;
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000255|PROSITE-ProRule:PRU00624, ECO:0000269|PubMed:12434153}.
name:
SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily A member 5 (SWI/SNF-related matrix-associated actin-dependent regulator of chromatin A5) (EC 3.6.4.-) (Sucrose nonfermenting protein 2 homolog) (hSNF2H)

sequence:

opentargets:
chromatin silencing complex [GO:0005677]; condensed chromosome [GO:0000793]; fibrillar center [GO:0001650]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; NURF complex [GO:0016589]; RSF complex [GO:0031213]; ATP binding [GO:0005524]; ATPase activity [GO:0016887]; DNA binding [GO:0003677]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; helicase activity [GO:0004386]; nucleosome binding [GO:0031491]; ATP-dependent chromatin remodeling [GO:0043044]; cellular response to leukemia inhibitory factor [GO:1990830]; CENP-A containing nucleosome assembly [GO:0034080]; chromatin remodeling [GO:0006338]; chromatin silencing at rDNA [GO:0000183]; DNA-templated transcription, initiation [GO:0006352]; nucleosome assembly [GO:0006334]; nucleosome positioning [GO:0016584]; positive regulation of gene expression, epigenetic [GO:0045815]; positive regulation of transcription, DNA-templated [GO:0045893]; regulation of transcription by RNA polymerase II [GO:0006357]


uniprotID: Q6P435
name: Putative uncharacterized SMG1-like protein
length: 159
sequence:
MSRRAPGSRLSSGGTNYSRSWNDWQPRTDSASADPGNLKYSSSRDRGGSSSYGLQPSNSAVVSRQRHDDTRVHADIQNDEKGGYSVNGGSGENTYGRKSLGQELRVNNVTSPEFTSVQHGSRALATKDMRKSQERSMSYCDESRLSNLLRRITREDDRD


uniprotID: Q8ND04
geneSymbol: SMG8
reactome: R-HSA-975957;
name: Protein SMG8 (Amplified in breast cancer gene 2 protein) (Protein smg-8 homolog)
length: 991
go: ENSG00000167447;
snps: rs8068240
sequence:

opentargets:
cytosol [GO:0005829]; nuclear-transcribed mRNA catabolic process, nonsense-mediated decay [GO:0000184]; regulation of protein kinase activity [GO:0045859]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q8ND04-1; Sequence=Displayed; Name=2; Synonyms=ABC2; IsoId=Q8ND04-2; Sequence=VSP_028166; Name=3; IsoId=Q8ND04-3; Sequence=VSP_028164, VSP_028165; Note=No experimental confirmation available.; 


uniprotID: A6NHR9
geneSymbol: SMCHD1
length: 2005
go: ENSG00000101596;
name:
Structural maintenance of chromosomes flexible hinge domain-containing protein 1 (SMC hinge domain-containing protein 1) (EC 3.6.1.-)

sequence:

opentargets:
Barr body [GO:0001740]; site of double-strand break [GO:0035861]; ATP binding [GO:0005524]; ATPase activity [GO:0016887]; DNA binding [GO:0003677]; protein homodimerization activity [GO:0042803]; dosage compensation by inactivation of X chromosome [GO:0009048]; double-strand break repair [GO:0006302]; heterochromatin organization involved in chromatin silencing [GO:0070868]; inactivation of X chromosome by DNA methylation [GO:0060821]; inactivation of X chromosome by heterochromatin assembly [GO:0060820]; negative regulation of double-strand break repair via homologous recombination [GO:2000042]; nose development [GO:0043584]; positive regulation of DNA repair [GO:0045739]; positive regulation of double-strand break repair via nonhomologous end joining [GO:2001034]

snps:
rs1135402737 rs1135402738 rs1057519645 rs1057519646 rs1057519643 rs1057519644 rs1135402739 rs1057519641 rs1135402740 rs1135402741 rs886041921 rs1057519639 rs1057519640 rs1057519642 rs1135402742 rs1135402743 rs1135402744 rs1135402745 rs397518422 rs886042392 rs397514623 rs2276092 rs633422 rs9961682 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=A6NHR9-1; Sequence=Displayed; Name=2; IsoId=A6NHR9-2; Sequence=VSP_033347, VSP_033348; Note=No experimental confirmation available.; Name=3; IsoId=A6NHR9-3; Sequence=VSP_033344, VSP_033345, VSP_033346; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Chromosome {ECO:0000269|PubMed:24790221, ECO:0000269|PubMed:25294876}. Note=Recruited to inactivated chromosome X in females by Xist RNA (By similarity). Localizes at sites of DNA damage at double-strand breaks (DSBs) (PubMed:25294876, PubMed:24790221). {ECO:0000250|UniProtKB:Q6P5D8, ECO:0000269|PubMed:24790221, ECO:0000269|PubMed:25294876}.


uniprotID: Q96E16
geneSymbol: SMIM19
name: Small integral membrane protein 19
length: 107
go: ENSG00000176209;
opentargets: integral component of membrane [GO:0016021]
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Single-pass membrane protein {ECO:0000305}.
sequence:
MAGGYGVMGDDGSIDYTVHEAWNEATNVYLIVILVSFGLFMYAKRNKRRIMRIFSVPPTEETLSEPNFYDTISKIRLRQQLEMYSISRKYDYQQPQNQADSVQLSLE


uniprotID: B2RUZ4
geneSymbol: SMIM1
name: Small integral membrane protein 1 (Vel blood group antigen)
sequence: MQPQESHVHYSRWEDGSRDGVSLGAVSSTEEASRCRRISQRLCTGKLGIAMKVLGGVALFWIIFILGYLTGYYVHKCK
length: 78
go: ENSG00000235169;
opentargets: integral component of membrane [GO:0016021]; plasma membrane [GO:0005886]
location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:26452714}; Single-pass type II membrane protein {ECO:0000269|PubMed:26452714}.


uniprotID: Q9H3U7
geneSymbol: SMOC2
length: 446
go: ENSG00000112562;
name:
SPARC-related modular calcium-binding protein 2 (Secreted modular calcium-binding protein 2) (SMOC-2) (Smooth muscle-associated protein 2) (SMAP-2)

sequence:

opentargets:
basement membrane [GO:0005604]; cell periphery [GO:0071944]; extracellular space [GO:0005615]; interstitial matrix [GO:0005614]; calcium ion binding [GO:0005509]; heparin binding [GO:0008201]; extracellular matrix organization [GO:0030198]; positive regulation of angiogenesis [GO:0045766]; positive regulation of cell-substrate adhesion [GO:0010811]; positive regulation of DNA biosynthetic process [GO:2000573]; positive regulation of endothelial cell chemotaxis [GO:2001028]; positive regulation of endothelial cell migration [GO:0010595]; positive regulation of mitotic cell cycle [GO:0045931]; positive regulation of vascular endothelial growth factor signaling pathway [GO:1900748]; positive regulation of vascular wound healing [GO:0035470]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; Synonyms=Smap2; IsoId=Q9H3U7-1; Sequence=Displayed; Name=2; Synonyms=Smap2b; IsoId=Q9H3U7-2; Sequence=VSP_008722; 

location:
SUBCELLULAR LOCATION: Secreted, extracellular space, extracellular matrix, basement membrane {ECO:0000250}.


uniprotID: H3BR10
geneSymbol: SMLR1
name: Small leucine-rich protein 1
length: 107
go: ENSG00000256162;
opentargets: integral component of membrane [GO:0016021]
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Multi-pass membrane protein {ECO:0000305}.
sequence:
MLSKGRSPRRKQVQTQRKAALVLSVTPMVPVGSVWLAMSSVLSAFMRELPGWFLFFGVFLPVTLLLLLLIAYFRIKLIEVNEELSQNCDRQHNPKDGSSLYQRMKWT


uniprotID: P02814
geneSymbol: SMR3B
sequence: MKSLTWILGLWALAACFTPGESQRGPRGPYPPGPLAPPQPFGPGFVPPPPPPPYGPGRIPPPPPAPYGPGIFPPPPPQP
length: 79
go: ENSG00000171201;
location: SUBCELLULAR LOCATION: Secreted.
name:
Submaxillary gland androgen-regulated protein 3B (Proline-rich peptide P-B) (Proline-rich protein 3) [Cleaved into: Peptide P-A; Peptide D1A]

opentargets:
extracellular exosome [GO:0070062]; extracellular region [GO:0005576]; extracellular space [GO:0005615]; endopeptidase inhibitor activity [GO:0004866]; regulation of sensory perception of pain [GO:0051930]


uniprotID: Q9H4F8
geneSymbol: SMOC1
length: 434
go: ENSG00000198732;
snps: rs10150925 rs776638586
name:
SPARC-related modular calcium-binding protein 1 (Secreted modular calcium-binding protein 1) (SMOC-1)

sequence:

opentargets:
basement membrane [GO:0005604]; calcium ion binding [GO:0005509]; extracellular matrix binding [GO:0050840]; cell differentiation [GO:0030154]; eye development [GO:0001654]; limb development [GO:0060173]; regulation of osteoblast differentiation [GO:0045667]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9H4F8-1; Sequence=Displayed; Name=2; IsoId=Q9H4F8-2; Sequence=VSP_008720; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Secreted, extracellular space, extracellular matrix, basement membrane {ECO:0000269|PubMed:12130637, ECO:0000269|PubMed:20359165}. Note=In or around the basement membrane.


uniprotID: Q6XYQ8
geneSymbol: SYT10
reactome: R-HSA-6794361;
name: Synaptotagmin-10 (Synaptotagmin X) (SytX)
length: 523
go: ENSG00000110975;
snps: rs12317722 rs35190376 rs34190017 rs34361405
sequence:

opentargets:
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]; phosphatidylinositol-4,5-bisphosphate binding [GO:0005546]; phosphatidylserine binding [GO:0001786]; protein heterodimerization activity [GO:0046982]; protein homodimerization activity [GO:0042803]; SNARE binding [GO:0000149]; syntaxin binding [GO:0019905]; calcium ion regulated exocytosis [GO:0017156]; cellular response to calcium ion [GO:0071277]; chemical synaptic transmission [GO:0007268]; positive regulation of calcium ion-dependent exocytosis [GO:0045956]; regulation of dopamine secretion [GO:0014059]; sensory perception of smell [GO:0007608]; synaptic vesicle exocytosis [GO:0016079]; vesicle-mediated transport [GO:0016192]

location:
SUBCELLULAR LOCATION: Cytoplasmic vesicle, secretory vesicle membrane {ECO:0000250|UniProtKB:Q9R0N4}; Single-pass membrane protein {ECO:0000255}. Note=Localizes to neuronal vesicles containing IGF1 that are not enriched at synapses. Does not colocalize with synaptic vesicles or with the Golgi apparatus. {ECO:0000250|UniProtKB:Q9R0N4}.


uniprotID: Q9H4L7
geneSymbol: SMARCAD1
length: 1026
go: ENSG00000163104;
snps: rs11723410 rs2664891 rs2632398 rs3103117 rs11722476 rs7439869 rs17854344 rs17857297
name:
SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily A containing DEAD/H box 1 (EC 3.6.4.12) (ATP-dependent helicase 1) (hHEL1)

sequence:

opentargets:
heterochromatin [GO:0000792]; nuclear matrix [GO:0016363]; nuclear replication fork [GO:0043596]; nucleoplasm [GO:0005654]; site of double-strand break [GO:0035861]; ATP binding [GO:0005524]; DNA binding [GO:0003677]; helicase activity [GO:0004386]; nucleic acid binding [GO:0003676]; ATP-dependent chromatin remodeling [GO:0043044]; chromatin organization [GO:0006325]; chromatin remodeling [GO:0006338]; chromosome separation [GO:0051304]; DNA double-strand break processing [GO:0000729]; histone H3 deacetylation [GO:0070932]; histone H4 deacetylation [GO:0070933]; nucleotide metabolic process [GO:0009117]; positive regulation of transcription, DNA-templated [GO:0045893]; protein homooligomerization [GO:0051260]; regulation of DNA recombination [GO:0000018]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; Synonyms=Long; IsoId=Q9H4L7-1; Sequence=Displayed; Name=2; IsoId=Q9H4L7-2; Sequence=VSP_007104; Name=3; Synonyms=Short; IsoId=Q9H4L7-3; Sequence=VSP_043110; Note=Skin-specific.; 

location:
SUBCELLULAR LOCATION: Nucleus. Chromosome. Note=Colocalizes with PCNA at replication forks during S phase. Recruited to double-strand breaks (DSBs) sites of DNA damage.


uniprotID: Q96GM5
geneSymbol: SMARCD1
reactome: R-HSA-3214858;R-HSA-8939243;
length: 515
go: ENSG00000066117;
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:8804307, ECO:0000305}.
name:
SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily D member 1 (60 kDa BRG-1/Brm-associated factor subunit A) (BRG1-associated factor 60A) (BAF60A) (SWI/SNF complex 60 kDa subunit)

sequence:

opentargets:
intracellular membrane-bounded organelle [GO:0043231]; nBAF complex [GO:0071565]; npBAF complex [GO:0071564]; nucleoplasm [GO:0005654]; SWI/SNF complex [GO:0016514]; chromatin binding [GO:0003682]; protein-containing complex scaffold activity [GO:0032947]; signaling receptor binding [GO:0005102]; transcription coactivator activity [GO:0003713]; cellular response to fatty acid [GO:0071398]; chromatin remodeling [GO:0006338]; chromatin-mediated maintenance of transcription [GO:0048096]; nervous system development [GO:0007399]; nucleosome disassembly [GO:0006337]; regulation of transcription by RNA polymerase II [GO:0006357]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1 {ECO:0000269|PubMed:8804307}; IsoId=Q96GM5-1; Sequence=Displayed; Name=2 {ECO:0000269|PubMed:8804307}; IsoId=Q96GM5-2; Sequence=VSP_004179; Note=No experimental confirmation available.; 


uniprotID: Q92925
geneSymbol: SMARCD2
reactome: R-HSA-3214858;R-HSA-8939243;
length: 531
go: ENSG00000108604;
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000305}.
name:
SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily D member 2 (60 kDa BRG-1/Brm-associated factor subunit B) (BRG1-associated factor 60B) (BAF60B)

sequence:

opentargets:
nuclear chromatin [GO:0000790]; nucleoplasm [GO:0005654]; protein-containing complex [GO:0032991]; SWI/SNF complex [GO:0016514]; transcription coactivator activity [GO:0003713]; ATP-dependent chromatin remodeling [GO:0043044]; chromatin remodeling [GO:0006338]; nucleosome disassembly [GO:0006337]; regulation of transcription by RNA polymerase II [GO:0006357]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q92925-1; Sequence=Displayed; Note=No experimental confirmation available.; Name=2; IsoId=Q92925-2; Sequence=VSP_040531, VSP_040532; Note=Produced by aberrant splicing sites.; Name=3; IsoId=Q92925-3; Sequence=VSP_040530; 


uniprotID: Q9BQS2
geneSymbol: SYT15
name: Synaptotagmin-15 (Chr10Syt) (Synaptotagmin XV) (SytXV)
length: 421
go: ENSG00000204176;ENSG00000277758;
sequence:

opentargets:
exocytic vesicle [GO:0070382]; integral component of membrane [GO:0016021]; plasma membrane [GO:0005886]; calcium ion binding [GO:0005509]; calcium-dependent phospholipid binding [GO:0005544]; clathrin binding [GO:0030276]; phosphatidylserine binding [GO:0001786]; SNARE binding [GO:0000149]; calcium ion regulated exocytosis [GO:0017156]; cellular response to calcium ion [GO:0071277]; regulation of dopamine secretion [GO:0014059]; vesicle-mediated transport [GO:0016192]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; Synonyms=Syt XV-a; IsoId=Q9BQS2-1; Sequence=Displayed; Name=2; Synonyms=Syt XV-b; IsoId=Q9BQS2-2; Sequence=VSP_008646; Name=3; IsoId=Q9BQS2-3; Sequence=VSP_008643; Name=4; IsoId=Q9BQS2-4; Sequence=VSP_008644, VSP_008645; 

location:
SUBCELLULAR LOCATION: Isoform 1: Cell membrane {ECO:0000250}; Single-pass type III membrane protein {ECO:0000250}.; SUBCELLULAR LOCATION: Isoform 2: Cell membrane {ECO:0000250}; Single-pass type III membrane protein {ECO:0000250}.; SUBCELLULAR LOCATION: Isoform 4: Cell membrane {ECO:0000250}; Single-pass type III membrane protein {ECO:0000250}.


uniprotID: Q17RD7
geneSymbol: SYT16
name: Synaptotagmin-16 (Chr14Syt) (Synaptotagmin 14-like protein) (Synaptotagmin XIV-related protein)
length: 645
go: ENSG00000139973;
snps: rs8019076 rs17099370
sequence:

opentargets:
phospholipid binding [GO:0005543]; protein heterodimerization activity [GO:0046982]; protein homodimerization activity [GO:0042803]; exocytosis [GO:0006887]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=Q17RD7-1; Sequence=Displayed; Name=2; IsoId=Q17RD7-2; Sequence=VSP_021379; Name=3; IsoId=Q17RD7-3; Sequence=VSP_021378; Note=No experimental confirmation available.; Name=4; IsoId=Q17RD7-4; Sequence=VSP_057225, VSP_057226; Note=No experimental confirmation available.; 


uniprotID: Q2TAL5
geneSymbol: SMTNL2
name: Smoothelin-like protein 2
length: 461
go: ENSG00000188176;
snps: rs12449695 rs9916524
sequence:

opentargets:
filamentous actin [GO:0031941]; microtubule organizing center [GO:0005815]; actin cytoskeleton organization [GO:0030036]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q2TAL5-1; Sequence=Displayed; Name=2; IsoId=Q2TAL5-2; Sequence=VSP_030931; 


uniprotID: P61278
geneSymbol: SST
reactome: R-HSA-375276;R-HSA-418594;
pdb: 1P2W;2MI1;
length: 116
go: ENSG00000157005;
drug: DB00847;
snps: rs35603672 rs33934967
location: SUBCELLULAR LOCATION: Secreted.
name:
Somatostatin (Growth hormone release-inhibiting factor) [Cleaved into: Somatostatin-28; Somatostatin-14]

sequence:
MLSCRLQCALAALSIVLALGCVTGAPSDPRLRQFLQKSLAAAAGKQELAKYFLAELLSEPNQTENDALEPEDLSQAAEQDEMRLELQRSANSNPAMAPRERKAGCKNFFWKTFTSC

opentargets:
extracellular region [GO:0005576]; extracellular space [GO:0005615]; neuronal cell body [GO:0043025]; hormone activity [GO:0005179]; cell surface receptor signaling pathway [GO:0007166]; cell-cell signaling [GO:0007267]; chemical synaptic transmission [GO:0007268]; digestion [GO:0007586]; G protein-coupled receptor signaling pathway [GO:0007186]; hormone-mediated apoptotic signaling pathway [GO:0008628]; hyperosmotic response [GO:0006972]; negative regulation of cell proliferation [GO:0008285]; regulation of cell migration [GO:0030334]; response to acidic pH [GO:0010447]; response to amino acid [GO:0043200]; response to drug [GO:0042493]; response to heat [GO:0009408]; response to nutrient [GO:0007584]; response to steroid hormone [GO:0048545]


uniprotID: P54920
geneSymbol: NAPA
reactome: R-HSA-204005;R-HSA-432722;R-HSA-6807878;R-HSA-6811434;R-HSA-6811438;R-HSA-6811440;
length: 295
go: ENSG00000105402;
name:
Alpha-soluble NSF attachment protein (SNAP-alpha) (N-ethylmaleimide-sensitive factor attachment protein alpha)

sequence:

opentargets:
cytosol [GO:0005829]; extracellular exosome [GO:0070062]; glutamatergic synapse [GO:0098978]; Golgi membrane [GO:0000139]; membrane [GO:0016020]; myelin sheath [GO:0043209]; plasma membrane [GO:0005886]; postsynapse [GO:0098794]; presynapse [GO:0098793]; SNARE complex [GO:0031201]; synaptobrevin 2-SNAP-25-syntaxin-1a complex [GO:0070044]; vacuolar membrane [GO:0005774]; protein-containing complex binding [GO:0044877]; SNARE binding [GO:0000149]; soluble NSF attachment protein activity [GO:0005483]; syntaxin binding [GO:0019905]; apical protein localization [GO:0045176]; brain development [GO:0007420]; COPII vesicle coating [GO:0048208]; ER to Golgi vesicle-mediated transport [GO:0006888]; intra-Golgi vesicle-mediated transport [GO:0006891]; intracellular protein transport [GO:0006886]; membrane fusion [GO:0061025]; neuron differentiation [GO:0030182]; positive regulation of ATPase activity [GO:0032781]; regulation of synaptic vesicle priming [GO:0010807]; retrograde vesicle-mediated transport, Golgi to ER [GO:0006890]; SNARE complex disassembly [GO:0035494]; synaptic transmission, glutamatergic [GO:0035249]; synaptic vesicle priming [GO:0016082]

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:15980433}; Peripheral membrane protein {ECO:0000305|PubMed:15029241}.


uniprotID: Q9H7B4
geneSymbol: SMYD3
reactome: R-HSA-3214841;
pdb: 3MEK;3OXF;3OXG;3OXL;3PDN;3QWP;3RU0;5CCL;5CCM;5EX0;5EX3;5HI7;5HQ8;5V37;
length: 428
go: ENSG00000185420;
name:
Histone-lysine N-methyltransferase SMYD3 (EC 2.1.1.43) (SET and MYND domain-containing protein 3) (Zinc finger MYND domain-containing protein 1)

sequence:

opentargets:
cytosol [GO:0005829]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; histone-lysine N-methyltransferase activity [GO:0018024]; metal ion binding [GO:0046872]; RNA polymerase II complex binding [GO:0000993]; RNA polymerase II intronic transcription regulatory region sequence-specific DNA binding [GO:0001162]; RNA polymerase II proximal promoter sequence-specific DNA binding [GO:0000978]; cellular response to dexamethasone stimulus [GO:0071549]; establishment of protein localization [GO:0045184]; myotube cell development [GO:0014904]; negative regulation of protein kinase activity [GO:0006469]; nucleosome assembly [GO:0006334]; positive regulation of peptidyl-serine phosphorylation [GO:0033138]; positive regulation of transcription by RNA polymerase II [GO:0045944]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q9H7B4-1; Sequence=Displayed; Name=2; IsoId=Q9H7B4-2; Sequence=VSP_012416, VSP_012417; Note=No experimental confirmation available.; Name=3; IsoId=Q9H7B4-3; Sequence=VSP_035601; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:15235609}. Nucleus {ECO:0000269|PubMed:15235609, ECO:0000269|PubMed:25738358}. Note=Mainly cytoplasmic when cells are arrested at G0/G1. Accumulates in the nucleus at S phase and G2/M. {ECO:0000269|PubMed:15235609}.


uniprotID: Q8IYR2
geneSymbol: SMYD4
name: SET and MYND domain-containing protein 4 (EC 2.1.1.-)
length: 804
go: ENSG00000186532;
opentargets: metal ion binding [GO:0046872]; methyltransferase activity [GO:0008168]
snps: rs9907701 rs7224496 rs9913923 rs9890631 rs3809875 rs11549830 rs9902398
sequence:


uniprotID: Q6GMV2
geneSymbol: SMYD5
length: 418
go: ENSG00000135632;
opentargets: metal ion binding [GO:0046872]; methyltransferase activity [GO:0008168]
name:
SET and MYND domain-containing protein 5 (EC 2.1.1.-) (Protein NN8-4AG) (Retinoic acid-induced protein 15)

sequence:


uniprotID: Q5T7P8
geneSymbol: SYT6
name: Synaptotagmin-6 (Synaptotagmin VI) (SytVI)
length: 510
go: ENSG00000134207;
sequence:

opentargets:
cell junction [GO:0030054]; cytosol [GO:0005829]; exocytic vesicle [GO:0070382]; extrinsic component of membrane [GO:0019898]; glutamatergic synapse [GO:0098978]; integral component of membrane [GO:0016021]; integral component of synaptic membrane [GO:0099699]; perinuclear endoplasmic reticulum [GO:0097038]; plasma membrane [GO:0005886]; synaptic vesicle membrane [GO:0030672]; calcium ion binding [GO:0005509]; calcium-dependent phospholipid binding [GO:0005544]; calcium-dependent protein binding [GO:0048306]; clathrin binding [GO:0030276]; phosphatidylserine binding [GO:0001786]; protein homodimerization activity [GO:0042803]; SNARE binding [GO:0000149]; syntaxin binding [GO:0019905]; acrosomal vesicle exocytosis [GO:0060478]; calcium ion regulated exocytosis [GO:0017156]; cellular response to calcium ion [GO:0071277]; presynaptic dense core vesicle exocytosis [GO:0099525]; regulation of dopamine secretion [GO:0014059]; synaptic vesicle exocytosis [GO:0016079]; vesicle-mediated transport [GO:0016192]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q5T7P8-1; Sequence=Displayed; Note=No experimental confirmation available.; Name=2; IsoId=Q5T7P8-2; Sequence=VSP_036619; 

location:
SUBCELLULAR LOCATION: Cytoplasmic vesicle, secretory vesicle, synaptic vesicle membrane {ECO:0000250|UniProtKB:Q9R0N8}; Single-pass membrane protein {ECO:0000250|UniProtKB:Q9R0N8}.; SUBCELLULAR LOCATION: Isoform 1: Membrane {ECO:0000250|UniProtKB:Q9R0N8}; Single-pass membrane protein {ECO:0000250}. Note=Localized predominantly to endoplasmic reticulum (ER) and/or Golgi-like perinuclear compartment (By similarity). {ECO:0000250|UniProtKB:Q9R0N8}.; SUBCELLULAR LOCATION: Isoform 2: Cytoplasm, cytosol {ECO:0000250|UniProtKB:Q9R0N8}. Cell membrane {ECO:0000250|UniProtKB:Q9R0N8}; Peripheral membrane protein {ECO:0000250|UniProtKB:Q9R0N8}.


uniprotID: O43581
geneSymbol: SYT7
reactome: R-HSA-6794361;
pdb: 2D8K;
name: Synaptotagmin-7 (IPCA-7) (Prostate cancer-associated protein 7) (Synaptotagmin VII) (SytVII)
length: 403
go: ENSG00000011347;
snps: rs407740
sequence:

opentargets:
axon [GO:0030424]; axon terminus [GO:0043679]; cell junction [GO:0030054]; cytosol [GO:0005829]; dendrite [GO:0030425]; dense core granule [GO:0031045]; early phagosome [GO:0032009]; exocytic vesicle [GO:0070382]; extracellular exosome [GO:0070062]; GABA-ergic synapse [GO:0098982]; glutamatergic synapse [GO:0098978]; hippocampal mossy fiber to CA3 synapse [GO:0098686]; integral component of presynaptic membrane [GO:0099056]; lysosomal membrane [GO:0005765]; lysosome [GO:0005764]; neuron projection [GO:0043005]; neuronal cell body [GO:0043025]; peroxisomal membrane [GO:0005778]; peroxisome [GO:0005777]; phagocytic vesicle membrane [GO:0030670]; plasma membrane [GO:0005886]; synaptic vesicle [GO:0008021]; synaptic vesicle membrane [GO:0030672]; calcium ion binding [GO:0005509]; calcium-dependent phospholipid binding [GO:0005544]; calmodulin binding [GO:0005516]; clathrin binding [GO:0030276]; phosphatidylinositol-4,5-bisphosphate binding [GO:0005546]; phosphatidylserine binding [GO:0001786]; SNARE binding [GO:0000149]; syntaxin binding [GO:0019905]; calcium ion regulated exocytosis [GO:0017156]; calcium ion regulated lysosome exocytosis [GO:1990927]; calcium ion-regulated exocytosis of neurotransmitter [GO:0048791]; calcium-dependent activation of synaptic vesicle fusion [GO:0099502]; cellular response to calcium ion [GO:0071277]; phagocytosis [GO:0006909]; phagosome-lysosome fusion [GO:0090385]; plasma membrane repair [GO:0001778]; regulation of bone remodeling [GO:0046850]; regulation of dopamine secretion [GO:0014059]; regulation of glucagon secretion [GO:0070092]; regulation of insulin secretion [GO:0050796]; regulation of phagocytosis [GO:0050764]; regulation of synaptic vesicle endocytosis [GO:1900242]; short-term synaptic potentiation [GO:1990926]; synaptic vesicle recycling [GO:0036465]; vesicle-mediated cholesterol transport [GO:0090119]; vesicle-mediated transport [GO:0016192]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=6;  Name=1; IsoId=O43581-1; Sequence=Displayed; Note=Major isoform. {ECO:0000269|PubMed:12071850}; Name=2; IsoId=O43581-2; Sequence=VSP_045991; Note=No experimental confirmation available.; Name=3; IsoId=O43581-3; Sequence=VSP_058233; Name=4; IsoId=O43581-4; Sequence=VSP_058234; Name=5; IsoId=O43581-5; Sequence=VSP_058231; Name=6; Synonyms=Synaptotagmin VIIbeta {ECO:0000303|PubMed:12071850}, Syt7beta {ECO:0000305}; IsoId=O43581-6; Sequence=VSP_058232; 

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000250|UniProtKB:Q62747}; Single-pass membrane protein {ECO:0000255}. Cell junction, synapse, presynaptic cell membrane {ECO:0000250|UniProtKB:Q9R0N7}; Single-pass membrane protein {ECO:0000255}. Cytoplasmic vesicle, secretory vesicle, synaptic vesicle membrane {ECO:0000250|UniProtKB:Q9R0N7}; Single-pass membrane protein {ECO:0000255}. Lysosome membrane {ECO:0000250|UniProtKB:Q9R0N7}; Single-pass membrane protein {ECO:0000255}. Cytoplasmic vesicle, phagosome membrane {ECO:0000250|UniProtKB:Q9R0N7}; Single-pass membrane protein {ECO:0000255}. Peroxisome membrane {ECO:0000250|UniProtKB:Q9R0N7}; Single-pass membrane protein {ECO:0000255}. Cytoplasmic vesicle, secretory vesicle membrane {ECO:0000250|UniProtKB:Q62747}; Single-pass membrane protein {ECO:0000255}. Note=Localization to lysosomes is dependent on N-terminal palmitoylation and interaction with CD63. {ECO:0000250|UniProtKB:Q9R0N7}.


uniprotID: Q8NBV8
geneSymbol: SYT8
reactome: R-HSA-8856825;R-HSA-8856828;
name: Synaptotagmin-8 (Synaptotagmin VIII) (SytVIII)
length: 401
go: ENSG00000149043;
snps: rs57344881 rs564271 rs34141314 rs907608 rs907609
sequence:

opentargets:
acrosomal vesicle [GO:0001669]; axon [GO:0030424]; dense core granule [GO:0031045]; exocytic vesicle [GO:0070382]; integral component of membrane [GO:0016021]; plasma membrane [GO:0005886]; synaptic vesicle membrane [GO:0030672]; calcium ion binding [GO:0005509]; calcium-dependent phospholipid binding [GO:0005544]; calcium-dependent protein binding [GO:0048306]; clathrin binding [GO:0030276]; phosphatidylserine binding [GO:0001786]; SNARE binding [GO:0000149]; syntaxin binding [GO:0019905]; acrosome reaction [GO:0007340]; calcium ion regulated exocytosis [GO:0017156]; calcium ion-regulated exocytosis of neurotransmitter [GO:0048791]; cellular response to calcium ion [GO:0071277]; regulation of dopamine secretion [GO:0014059]; synaptic vesicle endocytosis [GO:0048488]; synaptic vesicle exocytosis [GO:0016079]; vesicle-mediated transport [GO:0016192]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=4; IsoId=Q8NBV8-4; Sequence=Displayed; Note=No experimental confirmation available.; Name=1; IsoId=Q8NBV8-1; Sequence=VSP_040846, VSP_040847; 

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000250}; Single-pass type III membrane protein {ECO:0000250}. Cytoplasmic vesicle, secretory vesicle, acrosome {ECO:0000250}.


uniprotID: Q86SS6
geneSymbol: SYT9
reactome: R-HSA-6794361;R-HSA-8856825;R-HSA-8856828;
name: Synaptotagmin-9 (Synaptotagmin IX) (SytIX)
length: 491
go: ENSG00000170743;
snps: rs78477754 rs1001166978 rs117876446
sequence:

opentargets:
cell junction [GO:0030054]; clathrin-coated vesicle membrane [GO:0030665]; dense core granule [GO:0031045]; exocytic vesicle [GO:0070382]; hippocampal mossy fiber to CA3 synapse [GO:0098686]; integral component of synaptic vesicle membrane [GO:0030285]; plasma membrane [GO:0005886]; secretory granule membrane [GO:0030667]; calcium ion binding [GO:0005509]; calcium-dependent phospholipid binding [GO:0005544]; clathrin binding [GO:0030276]; identical protein binding [GO:0042802]; phosphatidylinositol-4,5-bisphosphate binding [GO:0005546]; phosphatidylserine binding [GO:0001786]; SNARE binding [GO:0000149]; syntaxin binding [GO:0019905]; calcium ion regulated exocytosis [GO:0017156]; calcium-dependent activation of synaptic vesicle fusion [GO:0099502]; cellular response to calcium ion [GO:0071277]; membrane organization [GO:0061024]; regulation of dopamine secretion [GO:0014059]; regulation of insulin secretion [GO:0050796]; synaptic vesicle exocytosis [GO:0016079]; vesicle-mediated transport [GO:0016192]

location:
SUBCELLULAR LOCATION: Cytoplasmic vesicle, secretory vesicle, synaptic vesicle membrane {ECO:0000250}; Single-pass membrane protein {ECO:0000250}.


uniprotID: A2RTX5
geneSymbol: TARSL2
length: 802
go: ENSG00000185418;
name:
Threonine--tRNA ligase 2, cytoplasmic (EC 6.1.1.3) (Threonyl-tRNA synthetase) (ThrRS) (Threonyl-tRNA synthetase-like protein 2)

sequence:

opentargets:
cytoplasm [GO:0005737]; nucleus [GO:0005634]; ATP binding [GO:0005524]; threonine-tRNA ligase activity [GO:0004829]; threonyl-tRNA aminoacylation [GO:0006435]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=A2RTX5-1; Sequence=Displayed; Name=2; IsoId=A2RTX5-2; Sequence=VSP_033562; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250|UniProtKB:Q8BLY2}. Nucleus {ECO:0000250|UniProtKB:Q8BLY2}. Note=Primarily cytoplasmic. Also detected at lower levels in the nucleus. {ECO:0000250|UniProtKB:Q8BLY2}.


uniprotID: Q9Y6H5
geneSymbol: SNCAIP
reactome: R-HSA-977225;
pdb: 2KES;
name: Synphilin-1 (Sph1) (Alpha-synuclein-interacting protein)
length: 919
go: ENSG00000064692;
snps: rs56285021 rs6867105 rs28937592
sequence:

opentargets:
cytoplasm [GO:0005737]; cytoplasmic ribonucleoprotein granule [GO:0036464]; cytosol [GO:0005829]; neuronal cell body [GO:0043025]; nucleoplasm [GO:0005654]; presynaptic membrane [GO:0042734]; synaptic vesicle [GO:0008021]; identical protein binding [GO:0042802]; ubiquitin protein ligase binding [GO:0031625]; cell death [GO:0008219]; cellular protein metabolic process [GO:0044267]; dopamine metabolic process [GO:0042417]; regulation of inclusion body assembly [GO:0090083]; regulation of neurotransmitter secretion [GO:0046928]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=6;  Name=1; Synonyms=1a; IsoId=Q9Y6H5-1; Sequence=Displayed; Name=2; Synonyms=Synphilin-1A; IsoId=Q9Y6H5-2; Sequence=VSP_038839, VSP_038842, VSP_038845; Name=3; IsoId=Q9Y6H5-3; Sequence=VSP_038840, VSP_038845; Name=4; Synonyms=1b; IsoId=Q9Y6H5-4; Sequence=VSP_038841; Name=5; IsoId=Q9Y6H5-5; Sequence=VSP_038839, VSP_038842; Name=6; Synonyms=1c; IsoId=Q9Y6H5-6; Sequence=VSP_038840, VSP_038843, VSP_038844; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:10319874, ECO:0000269|PubMed:15064394, ECO:0000269|PubMed:16595633, ECO:0000269|PubMed:19762560}. Note=Detected in cytoplasmic inclusion bodies, together with SNCA.


uniprotID: Q9HCH5
geneSymbol: SYTL2
pdb: 3BC1;
name: Synaptotagmin-like protein 2 (Breast cancer-associated antigen SGA-72M) (Exophilin-4)
length: 934
go: ENSG00000137501;
snps: rs556669 rs641393
sequence:

opentargets:
cytoplasm [GO:0005737]; exocytic vesicle [GO:0070382]; extrinsic component of plasma membrane [GO:0019897]; melanosome [GO:0042470]; membrane [GO:0016020]; plasma membrane [GO:0005886]; neurexin family protein binding [GO:0042043]; phosphatase binding [GO:0019902]; phosphatidylinositol-4,5-bisphosphate binding [GO:0005546]; phosphatidylserine binding [GO:0001786]; Rab GTPase binding [GO:0017137]; exocytosis [GO:0006887]; intracellular protein transport [GO:0006886]; negative regulation of phosphatase activity [GO:0010923]; positive regulation of mucus secretion [GO:0070257]; protein localization to plasma membrane [GO:0072659]; vesicle docking involved in exocytosis [GO:0006904]; vesicle-mediated transport [GO:0016192]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=12;  Name=1; Synonyms=Hematopoietic form of Slp2a, Slp2a-hem; IsoId=Q9HCH5-1; Sequence=Displayed; Name=2; IsoId=Q9HCH5-2; Sequence=VSP_007885; Note=No experimental confirmation available.; Name=3; IsoId=Q9HCH5-4; Sequence=VSP_007885, VSP_019004; Name=4; IsoId=Q9HCH5-6; Sequence=VSP_037905, VSP_019004; Name=5; IsoId=Q9HCH5-7; Sequence=VSP_037900; Note=No experimental confirmation available.; Name=6; IsoId=Q9HCH5-8; Sequence=VSP_037900, VSP_037905; Note=No experimental confirmation available.; Name=7; IsoId=Q9HCH5-9; Sequence=VSP_037896, VSP_037906; Note=No experimental confirmation available.; Name=8; IsoId=Q9HCH5-11; Sequence=VSP_037900, VSP_037905, VSP_019004; Note=No experimental confirmation available.; Name=9; IsoId=Q9HCH5-12; Sequence=VSP_037899; Note=No experimental confirmation available.; Name=10; IsoId=Q9HCH5-13; Sequence=VSP_037904; Note=No experimental confirmation available.; Name=11; IsoId=Q9HCH5-14; Sequence=VSP_037902, VSP_037905; Note=No experimental confirmation available.; Name=12; IsoId=Q9HCH5-15; Sequence=VSP_037901, VSP_019004; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Isoform 1: Cytoplasm {ECO:0000269|PubMed:18812475}. Cell membrane {ECO:0000269|PubMed:18266782, ECO:0000269|PubMed:18812475}. Note=Recruited on vesicular structures in cytotoxic T-lymphocytes (CTL) by RAB27A. {ECO:0000269|PubMed:18812475}.; SUBCELLULAR LOCATION: Isoform 4: Cell membrane {ECO:0000269|PubMed:17182843}. Note=In the pancreatic alpha cells distributed in both peripheral and anterior regions. Localizes on the glucagon granules in the cell periphery. {ECO:0000269|PubMed:17182843}.


uniprotID: Q96H20
geneSymbol: SNF8
reactome: R-HSA-917729;
pdb: 2ZME;3CUQ;
length: 258
go: ENSG00000159210;
name:
Vacuolar-sorting protein SNF8 (ELL-associated protein of 30 kDa) (ESCRT-II complex subunit VPS22) (hVps22)

sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; endosome membrane [GO:0010008]; ESCRT II complex [GO:0000814]; extracellular exosome [GO:0070062]; late endosome membrane [GO:0031902]; membrane [GO:0016020]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; perinuclear region of cytoplasm [GO:0048471]; plasma membrane [GO:0005886]; recycling endosome [GO:0055037]; transcription factor complex [GO:0005667]; channel regulator activity [GO:0016247]; protein C-terminus binding [GO:0008022]; protein homodimerization activity [GO:0042803]; protein N-terminus binding [GO:0047485]; transcription factor binding [GO:0008134]; early endosome to late endosome transport [GO:0045022]; endocytic recycling [GO:0032456]; endosomal transport [GO:0016197]; macroautophagy [GO:0016236]; multivesicular body assembly [GO:0036258]; multivesicular body sorting pathway [GO:0071985]; positive regulation of exosomal secretion [GO:1903543]; positive regulation of gene expression [GO:0010628]; positive regulation of protein catabolic process [GO:0045732]; protein transport to vacuole involved in ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway [GO:0043328]; regulation of multivesicular body size involved in endosome transport [GO:0010797]; regulation of protein catabolic process [GO:0042176]; regulation of protein complex stability [GO:0061635]; regulation of transcription by RNA polymerase II [GO:0006357]; regulation of viral budding via host ESCRT complex [GO:1903772]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q96H20-1; Sequence=Displayed; Name=2; IsoId=Q96H20-2; Sequence=VSP_015340; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasm. Endosome membrane. Nucleus {ECO:0000305}. Late endosome membrane. Note=Recruited to the endosome membrane to participate in vesicle formation.


uniprotID: Q9BW92
geneSymbol: TARS2
reactome: R-HSA-379726;
length: 718
go: ENSG00000143374;
drug: DB00156;
snps: rs587777593
location: SUBCELLULAR LOCATION: Mitochondrion matrix {ECO:0000250}.
name:
Threonine--tRNA ligase, mitochondrial (EC 6.1.1.3) (Threonyl-tRNA synthetase) (ThrRS) (Threonyl-tRNA synthetase-like 1)

sequence:

opentargets:
cytoplasm [GO:0005737]; mitochondrial matrix [GO:0005759]; aminoacyl-tRNA editing activity [GO:0002161]; ATP binding [GO:0005524]; protein homodimerization activity [GO:0042803]; threonine-tRNA ligase activity [GO:0004829]; mitochondrial threonyl-tRNA aminoacylation [GO:0070159]; threonyl-tRNA aminoacylation [GO:0006435]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9BW92-1; Sequence=Displayed; Name=2; IsoId=Q9BW92-2; Sequence=VSP_054537; Note=No experimental confirmation available.; 


uniprotID: Q9HAU4
geneSymbol: SMURF2
pdb: 1ZVD;2DJY;2JQZ;2KXQ;2LTZ;6FX4;
length: 748
go: ENSG00000108854;
reactome:
R-HSA-201451;R-HSA-2173788;R-HSA-2173795;R-HSA-4608870;R-HSA-4641257;R-HSA-5632684;R-HSA-5689880;R-HSA-8941858;R-HSA-983168;

name:
E3 ubiquitin-protein ligase SMURF2 (hSMURF2) (EC 2.3.2.26) (HECT-type E3 ubiquitin transferase SMURF2) (SMAD ubiquitination regulatory factor 2) (SMAD-specific E3 ubiquitin-protein ligase 2)

sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; membrane raft [GO:0045121]; nuclear speck [GO:0016607]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; plasma membrane [GO:0005886]; ubiquitin ligase complex [GO:0000151]; identical protein binding [GO:0042802]; SMAD binding [GO:0046332]; transforming growth factor beta receptor binding [GO:0005160]; ubiquitin protein ligase activity [GO:0061630]; ubiquitin-protein transferase activity [GO:0004842]; BMP signaling pathway [GO:0030509]; negative regulation of BMP signaling pathway [GO:0030514]; 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]; positive regulation of canonical Wnt signaling pathway [GO:0090263]; positive regulation of protein catabolic process [GO:0045732]; positive regulation of trophoblast cell migration [GO:1901165]; proteasome-mediated ubiquitin-dependent protein catabolic process [GO:0043161]; protein deubiquitination [GO:0016579]; protein polyubiquitination [GO:0000209]; protein ubiquitination [GO:0016567]; regulation of transforming growth factor beta receptor signaling pathway [GO:0017015]; ubiquitin-dependent protein catabolic process [GO:0006511]; ubiquitin-dependent SMAD protein catabolic process [GO:0030579]; Wnt signaling pathway, planar cell polarity pathway [GO:0060071]

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:12717440}. Cytoplasm {ECO:0000269|PubMed:12717440}. Cell membrane {ECO:0000269|PubMed:12717440}. Membrane raft {ECO:0000269|PubMed:12717440}. Note=Cytoplasmic in the presence of SMAD7. Colocalizes with CAV1, SMAD7 and TGF-beta receptor in membrane rafts.


uniprotID: O43761
geneSymbol: SYNGR3
name: Synaptogyrin-3
length: 229
go: ENSG00000127561;
sequence:

opentargets:
cell junction [GO:0030054]; integral component of membrane [GO:0016021]; neuromuscular junction [GO:0031594]; synaptic vesicle [GO:0008021]; synaptic vesicle membrane [GO:0030672]; protein N-terminus binding [GO:0047485]; SH2 domain binding [GO:0042169]; positive regulation of transporter activity [GO:0032411]; regulated exocytosis [GO:0045055]; substantia nigra development [GO:0021762]

location:
SUBCELLULAR LOCATION: Cytoplasmic vesicle, secretory vesicle, synaptic vesicle membrane {ECO:0000250|UniProtKB:Q8R191}; Multi-pass membrane protein {ECO:0000255}. Cell junction, synapse {ECO:0000250|UniProtKB:Q8R191}. Note=Found at the neuromuscular synapses. {ECO:0000250|UniProtKB:Q8R191}.


uniprotID: P0DPA3
geneSymbol: SNHG28
length: 235
opentargets: RNA binding [GO:0003723]
name:
Putative uncharacterized protein SNHG28 (Small nucleolar RNA host gene 2) (VSIG8 overlapping transcript protein) (VSIG8-OT1)

sequence:


uniprotID: O15079
geneSymbol: SNPH
name: Syntaphilin
length: 494
go: ENSG00000101298;
sequence:

opentargets:
cell junction [GO:0030054]; cytoplasm [GO:0005737]; cytoplasmic microtubule [GO:0005881]; integral component of membrane [GO:0016021]; mitochondrial membrane [GO:0031966]; neuron projection [GO:0043005]; neuronal cell body [GO:0043025]; presynaptic membrane [GO:0042734]; syntaxin-1 binding [GO:0017075]; brain development [GO:0007420]; neuron differentiation [GO:0030182]; neurotransmitter secretion [GO:0007269]; synaptic vesicle docking [GO:0016081]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=O15079-1; Sequence=Displayed; Name=2; IsoId=O15079-2; Sequence=VSP_037438; 

location:
SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Single-pass membrane protein {ECO:0000305}. Cell junction, synapse, synaptosome.


uniprotID: P60880
geneSymbol: SNAP25
pdb: 1KIL;1XTG;2N1T;3DDA;3DDB;3RK2;3RK3;3RL0;3ZUR;5W7I;5W7J;
length: 206
go: ENSG00000132639;
drug: DB00083;
reactome:
R-HSA-181429;R-HSA-181430;R-HSA-210500;R-HSA-212676;R-HSA-264642;R-HSA-422356;R-HSA-449836;R-HSA-5250968;R-HSA-5250971;R-HSA-5250992;R-HSA-6798695;R-HSA-888590;

name:
Synaptosomal-associated protein 25 (SNAP-25) (Super protein) (SUP) (Synaptosomal-associated 25 kDa protein)

sequence:

opentargets:
cell junction [GO:0030054]; cytoplasm [GO:0005737]; cytoskeleton [GO:0005856]; cytosol [GO:0005829]; extrinsic component of cytoplasmic side of plasma membrane [GO:0031234]; glutamatergic synapse [GO:0098978]; growth cone [GO:0030426]; membrane [GO:0016020]; myelin sheath [GO:0043209]; neuron projection [GO:0043005]; perinuclear region of cytoplasm [GO:0048471]; plasma membrane [GO:0005886]; postsynapse [GO:0098794]; presynaptic membrane [GO:0042734]; SNARE complex [GO:0031201]; somatodendritic compartment [GO:0036477]; specific granule membrane [GO:0035579]; synaptic vesicle [GO:0008021]; synaptobrevin 2-SNAP-25-syntaxin-1a-complexin I complex [GO:0070032]; tertiary granule membrane [GO:0070821]; trans-Golgi network [GO:0005802]; calcium-dependent protein binding [GO:0048306]; SNAP receptor activity [GO:0005484]; syntaxin binding [GO:0019905]; syntaxin-1 binding [GO:0017075]; voltage-gated potassium channel activity [GO:0005249]; associative learning [GO:0008306]; chemical synaptic transmission [GO:0007268]; exocytic insertion of neurotransmitter receptor to postsynaptic membrane [GO:0098967]; exocytosis [GO:0006887]; locomotory behavior [GO:0007626]; long-term synaptic potentiation [GO:0060291]; neurotransmitter receptor internalization [GO:0099590]; neurotransmitter uptake [GO:0001504]; neutrophil degranulation [GO:0043312]; regulation of insulin secretion [GO:0050796]; regulation of neuron projection development [GO:0010975]; synaptic vesicle docking [GO:0016081]; synaptic vesicle exocytosis [GO:0016079]; synaptic vesicle fusion to presynaptic active zone membrane [GO:0031629]; synaptic vesicle priming [GO:0016082]; vesicle fusion [GO:0006906]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Comment=Isoforms differ by the usage of two alternative homologous exons (5a and 5b) which code for positions 56 to 94 and differ only in 9 positions out of 39.; Name=1; Synonyms=SNAP-25b; IsoId=P60880-1, P13795-1; Sequence=Displayed; Name=2; Synonyms=SNAP-25a; IsoId=P60880-2, P13795-2; Sequence=VSP_006186; 

location:
SUBCELLULAR LOCATION: Cytoplasm, perinuclear region {ECO:0000250|UniProtKB:P60879}. Cell membrane {ECO:0000250|UniProtKB:P60881}; Lipid-anchor {ECO:0000250|UniProtKB:P60879}. Cell junction, synapse, synaptosome {ECO:0000250|UniProtKB:P60879}. Note=Membrane association requires palmitoylation. Expressed throughout cytoplasm, concentrating at the perinuclear region. Colocalizes with KCNB1 at the cell membrane. {ECO:0000250|UniProtKB:P60879, ECO:0000250|UniProtKB:P60881}.


uniprotID: Q8WVK2
geneSymbol: SNRNP27
reactome: R-HSA-72163;
length: 155
go: ENSG00000124380;
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000305}.
name:
U4/U6.U5 small nuclear ribonucleoprotein 27 kDa protein (U4/U6.U5 snRNP 27 kDa protein) (U4/U6.U5-27K) (Nucleic acid-binding protein RY-1) (U4/U6.U5 tri-snRNP-associated 27 kDa protein) (27K) (U4/U6.U5 tri-snRNP-associated protein 3)

sequence:
MGRSRSRSPRRERRRSRSTSRERERRRRERSRSRERDRRRSRSRSPHRRRSRSPRRHRSTSPSPSRLKERRDEEKKETKETKSKERQITEEDLEGKTEEEIEMMKLMGFASFDSTKGKKVDGSVNAYAINVSQKRKYRQYMNRKGGFNRPLDFIA

opentargets:
nucleoplasm [GO:0005654]; nucleic acid binding [GO:0003676]; mRNA splicing, via spliceosome [GO:0000398]


uniprotID: Q5SQN1
geneSymbol: SNAP47
length: 464
go: ENSG00000143740;
snps: rs2236359 rs12239037 rs2236358 rs17851681
name:
Synaptosomal-associated protein 47 (SNAP-47) (Epididymis luminal protein 170) (Synaptosomal-associated 47 kDa protein)

sequence:

opentargets:
dendrite [GO:0030425]; glutamatergic synapse [GO:0098978]; neuronal cell body [GO:0043025]; perinuclear region of cytoplasm [GO:0048471]; plasma membrane [GO:0005886]; SNARE complex [GO:0031201]; synaptic vesicle membrane [GO:0030672]; SNAP receptor activity [GO:0005484]; syntaxin binding [GO:0019905]; exocytic insertion of neurotransmitter receptor to postsynaptic membrane [GO:0098967]; exocytosis [GO:0006887]; long-term synaptic potentiation [GO:0060291]; synaptic vesicle fusion to presynaptic active zone membrane [GO:0031629]; synaptic vesicle priming [GO:0016082]; vesicle fusion [GO:0006906]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=Q5SQN1-1; Sequence=Displayed; Name=2; IsoId=Q5SQN1-2; Sequence=VSP_028614; Name=3; IsoId=Q5SQN1-3; Sequence=VSP_028613, VSP_028614; Name=4; IsoId=Q5SQN1-4; Sequence=VSP_028613; 

location:
SUBCELLULAR LOCATION: Endomembrane system {ECO:0000250}. Cytoplasm, perinuclear region {ECO:0000250}. Note=Appears to be exclusively membrane-bound. {ECO:0000250}.


uniprotID: O43290
geneSymbol: SART1
reactome: R-HSA-72163;
pdb: 4PYU;5O9Z;
length: 800
go: ENSG00000175467;
snps: rs688862 rs35036096 rs660118
name:
U4/U6.U5 tri-snRNP-associated protein 1 (SNU66 homolog) (hSnu66) (Squamous cell carcinoma antigen recognized by T-cells 1) (SART-1) (hSART-1) (U4/U6.U5 tri-snRNP-associated 110 kDa protein) (allergen Hom s 1)

sequence:

opentargets:
Cajal body [GO:0015030]; catalytic step 2 spliceosome [GO:0071013]; cytoplasm [GO:0005737]; cytosol [GO:0005829]; Golgi apparatus [GO:0005794]; nuclear speck [GO:0016607]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; U2-type precatalytic spliceosome [GO:0071005]; U4/U6 x U5 tri-snRNP complex [GO:0046540]; RNA binding [GO:0003723]; maturation of 5S rRNA [GO:0000481]; mRNA cis splicing, via spliceosome [GO:0045292]; mRNA splicing, via spliceosome [GO:0000398]; positive regulation of cytotoxic T cell differentiation [GO:0045585]; spliceosomal snRNP assembly [GO:0000387]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=1;  Comment=A number of isoforms may be produced.; Name=1; Synonyms=125 kDa; IsoId=O43290-1; Sequence=Displayed; 

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:11350945, ECO:0000269|PubMed:9449708}. Note=Found in the nucleus of mitogen-activated peripheral blood mononuclear cells (PBMCs), tumor cells, or normal cell lines, but not in normal tissues except testis and fetal liver or in unstimulated PBMCs, suggesting preferential expression in proliferating cells.


uniprotID: A6NMZ2
geneSymbol: SNTN
name: Sentan (Protein S100-A1-like) (S100 calcium-binding protein A1-like)
length: 147
go: ENSG00000188817;
opentargets: cilium [GO:0005929]; transition metal ion binding [GO:0046914]
sequence:
MGGCMHSTQDKSLHLEGDPNPSAAPTSTCAPRKMPKRISISKQLASVKALRKCSDLEKAIATTALIFRNSSDSDGKLEKAIAKDLLQTQFRNFAEGQETKPKYREILSELDEHTENKLDFEDFMILLLSITVMSDLLQNIRNVKIMK

location:
SUBCELLULAR LOCATION: Cell projection, cilium {ECO:0000250}. Note=Expressed exclusively at the cilium tip where it localizes between the cell membrane and peripheral A-subfibers. {ECO:0000250}.


uniprotID: Q13425
geneSymbol: SNTB2
pdb: 2VRF;
length: 540
go: ENSG00000168807;
snps: rs1058482
name:
Beta-2-syntrophin (59 kDa dystrophin-associated protein A1 basic component 2) (Syntrophin-3) (SNT3) (Syntrophin-like) (SNTL)

sequence:

opentargets:
cytoplasm [GO:0005737]; dystrophin-associated glycoprotein complex [GO:0016010]; focal adhesion [GO:0005925]; intracellular [GO:0005622]; membrane [GO:0016020]; microtubule [GO:0005874]; protein-containing complex [GO:0032991]; synapse [GO:0045202]; transport vesicle membrane [GO:0030658]; actin binding [GO:0003779]; calmodulin binding [GO:0005516]; RNA binding [GO:0003723]; structural molecule activity [GO:0005198]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; Synonyms=Beta2-syntrophin58; IsoId=Q13425-1; Sequence=Displayed; Name=2; Synonyms=Beta2-syntrophin28; IsoId=Q13425-2; Sequence=VSP_006358, VSP_006359; Note=Lacks domains required for interaction with dystrophin related proteins. May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.; 

location:
SUBCELLULAR LOCATION: Membrane. Cytoplasmic vesicle, secretory vesicle membrane; Peripheral membrane protein. Cell junction {ECO:0000250}. Cytoplasm, cytoskeleton. Note=Membrane-associated. In muscle, it is exclusively localized at the neuromuscular junction (By similarity). In insulinoma cell line, it is enriched in secretory granules. {ECO:0000250}.


uniprotID: Q9NSN8
geneSymbol: SNTG1
name: Gamma-1-syntrophin (G1SYN) (Syntrophin-4) (SYN4)
length: 517
go: ENSG00000147481;
location: SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton. Nucleus. Note=Mainly cytoplasmic and weakly nuclear.
sequence:

opentargets:
cytoplasm [GO:0005737]; cytoskeleton [GO:0005856]; dystrophin-associated glycoprotein complex [GO:0016010]; intracellular [GO:0005622]; nucleus [GO:0005634]; ruffle membrane [GO:0032587]; syntrophin complex [GO:0016013]; actin binding [GO:0003779]; protein C-terminus binding [GO:0008022]; structural molecule activity [GO:0005198]; cell communication [GO:0007154]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9NSN8-1; Sequence=Displayed; Name=2; IsoId=Q9NSN8-2; Sequence=VSP_006360; 


uniprotID: Q9NY99
geneSymbol: SNTG2
name: Gamma-2-syntrophin (G2SYN) (Syntrophin-5) (SYN5)
length: 539
go: ENSG00000172554;
snps: rs28505970 rs6751090 rs13023962
sequence:

opentargets:
cytoplasm [GO:0005737]; cytoskeleton [GO:0005856]; dystrophin-associated glycoprotein complex [GO:0016010]; intracellular [GO:0005622]; sarcolemma [GO:0042383]; syntrophin complex [GO:0016013]; actin binding [GO:0003779]; neuroligin family protein binding [GO:0097109]; PDZ domain binding [GO:0030165]; structural molecule activity [GO:0005198]; central nervous system development [GO:0007417]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9NY99-1; Sequence=Displayed; Name=2; IsoId=Q9NY99-2; Sequence=VSP_039175; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cell membrane, sarcolemma; Peripheral membrane protein; Cytoplasmic side. Cytoplasm, cytoskeleton. Note=In skeletal muscle, it localizes at the cytoplasmic side of the sarcolemmal membrane.


uniprotID: Q9NRS6
geneSymbol: SNX15
pdb: 6ECM;6MBI;
name: Sorting nexin-15
length: 342
go: ENSG00000110025;
snps: rs495820
sequence:

opentargets:
cytoplasmic vesicle membrane [GO:0030659]; cytosol [GO:0005829]; membrane [GO:0016020]; nucleolus [GO:0005730]; phosphatidylinositol binding [GO:0035091]; intracellular protein transport [GO:0006886]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9NRS6-1; Sequence=Displayed; Name=2; Synonyms=SNX15A; IsoId=Q9NRS6-2; Sequence=VSP_006193; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:11085978}. Membrane {ECO:0000269|PubMed:11085978}; Peripheral membrane protein {ECO:0000269|PubMed:11085978}; Cytoplasmic side {ECO:0000269|PubMed:11085978}. Cytoplasmic vesicle membrane {ECO:0000269|PubMed:11085978}; Peripheral membrane protein {ECO:0000269|PubMed:11085978}; Cytoplasmic side {ECO:0000269|PubMed:11085978}.


uniprotID: Q9Y5W9
geneSymbol: SNX11
pdb: 4IKB;4IKD;
name: Sorting nexin-11
length: 270
go: ENSG00000002919;
sequence:

opentargets:
endosome [GO:0005768]; membrane [GO:0016020]; phosphatidylinositol phosphate binding [GO:1901981]; intracellular protein transport [GO:0006886]; vesicle organization [GO:0016050]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9Y5W9-1; Sequence=Displayed; Name=2; IsoId=Q9Y5W9-2; Sequence=VSP_056594; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Peripheral membrane protein {ECO:0000305}; Cytoplasmic side {ECO:0000305}. Endosome {ECO:0000269|PubMed:23615901}.


uniprotID: Q15036
geneSymbol: SNX17
pdb: 3FOG;3LUI;4GXB;4TKN;
name: Sorting nexin-17
length: 470
go: ENSG00000115234;
sequence:

opentargets:
cytoplasmic vesicle [GO:0031410]; cytoplasmic vesicle membrane [GO:0030659]; cytosol [GO:0005829]; early endosome [GO:0005769]; endosome [GO:0005768]; endosome membrane [GO:0010008]; Golgi apparatus [GO:0005794]; intracellular membrane-bounded organelle [GO:0043231]; membrane [GO:0016020]; protein-containing complex [GO:0032991]; low-density lipoprotein particle receptor binding [GO:0050750]; phosphatidylinositol binding [GO:0035091]; protein C-terminus binding [GO:0008022]; signaling receptor binding [GO:0005102]; aorta development [GO:0035904]; cardiac septum development [GO:0003279]; cholesterol catabolic process [GO:0006707]; coronary vasculature development [GO:0060976]; endosomal transport [GO:0016197]; intracellular protein transport [GO:0006886]; receptor-mediated endocytosis [GO:0006898]; regulation of endocytosis [GO:0030100]; retrograde transport, endosome to plasma membrane [GO:1990126]; signal transduction [GO:0007165]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q15036-1; Sequence=Displayed; Name=2; IsoId=Q15036-2; Sequence=VSP_044935; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasm. Early endosome. Cytoplasmic vesicle membrane; Peripheral membrane protein; Cytoplasmic side.


uniprotID: Q86XE0
geneSymbol: SNX32
pdb: 6E8R;
name: Sorting nexin-32 (Sorting nexin-6B)
length: 403
go: ENSG00000172803;
snps: rs17854065 rs17855647 rs17857243
sequence:

opentargets:
phosphatidylinositol binding [GO:0035091]; protein transport [GO:0015031]; regulation of macroautophagy [GO:0016241]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q86XE0-1; Sequence=Displayed; Name=2; IsoId=Q86XE0-2; Sequence=VSP_031742, VSP_031743; Note=No experimental confirmation available.; 


uniprotID: O60493
geneSymbol: SNX3
reactome: R-HSA-3238698;R-HSA-5689880;
pdb: 2MXC;2YPS;5F0J;5F0L;5F0M;5F0P;
name: Sorting nexin-3 (Protein SDP3)
length: 162
go: ENSG00000112335;
sequence:
MAETVADTRRLITKPQNLNDAYGPPSNFLEIDVSNPQTVGVGRGRFTTYEIRVKTNLPIFKLKESTVRRRYSDFEWLRSELERESKVVVPPLPGKAFLRQLPFRGDDGIFDDNFIEERKQGLEQFINKVAGHPLAQNERCLHMFLQDEIIDKSYTPSKIRHA

opentargets:
clathrin-coated vesicle [GO:0030136]; cytoplasm [GO:0005737]; cytosol [GO:0005829]; early endosome [GO:0005769]; early endosome membrane [GO:0031901]; early phagosome [GO:0032009]; endosome membrane [GO:0010008]; extracellular exosome [GO:0070062]; phosphatidylinositol-3,5-bisphosphate binding [GO:0080025]; phosphatidylinositol-3-phosphate binding [GO:0032266]; phosphatidylinositol-4-phosphate binding [GO:0070273]; phosphatidylinositol-5-phosphate binding [GO:0010314]; protein phosphatase binding [GO:0019903]; intralumenal vesicle formation [GO:0070676]; membrane invagination [GO:0010324]; negative regulation of early endosome to late endosome transport [GO:2000642]; negative regulation of phagocytosis [GO:0050765]; negative regulation of protein catabolic process [GO:0042177]; negative regulation of protein transport [GO:0051224]; negative regulation of viral entry into host cell [GO:0046597]; positive regulation of neuron projection development [GO:0010976]; protein deubiquitination [GO:0016579]; protein to membrane docking [GO:0022615]; protein transport [GO:0015031]; regulation of Wnt signaling pathway [GO:0030111]; response to bacterium [GO:0009617]; Wnt signaling pathway [GO:0016055]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=O60493-1; Sequence=Displayed; Name=2; Synonyms=SNX 3A; IsoId=O60493-2; Sequence=VSP_006190; Name=3; IsoId=O60493-3; Sequence=VSP_012928; Note=No experimental confirmation available.; Name=4; IsoId=O60493-4; Sequence=VSP_014694; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Early endosome {ECO:0000269|PubMed:11433298, ECO:0000269|PubMed:21725319}. Cytoplasmic vesicle, phagosome {ECO:0000269|PubMed:23237080}. Note=Colocalizes to clathrin-coated endosomal vesicles morphologically distinct from retromer-decorated non-branched endosomal tubule structures (PubMed:21725319) Colocalizes with EEA1 on nascent phagosomes in dendritic cells but competes with EEA1 for binding to phagosomal membrane (PubMed:23237080). In the case of Salmonella enterica infection localizes to Salmonella-containing vacuoles (SCVs) from which SNX3-containing tubules form 30-60 min after infection (PubMed:20482551). {ECO:0000269|PubMed:20482551, ECO:0000269|PubMed:21725319, ECO:0000269|PubMed:23237080}.


uniprotID: Q969T3
geneSymbol: SNX21
name: Sorting nexin-21 (Sorting nexin L) (SNX-L)
length: 373
go: ENSG00000124104;
snps: rs4638862
sequence:

opentargets:
cytoplasmic vesicle membrane [GO:0030659]; early endosome membrane [GO:0031901]; phosphatidylinositol-3-phosphate binding [GO:0032266]; phosphatidylinositol-4,5-bisphosphate binding [GO:0005546]; protein transport [GO:0015031]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q969T3-1; Sequence=Displayed; Name=2; IsoId=Q969T3-2; Sequence=VSP_045048, VSP_045049; Note=No experimental confirmation available.; Name=3; IsoId=Q969T3-3; Sequence=VSP_047115; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasmic vesicle membrane {ECO:0000250|UniProtKB:Q3UR97}; Peripheral membrane protein {ECO:0000250}; Cytoplasmic side {ECO:0000250}. Early endosome membrane {ECO:0000250|UniProtKB:Q3UR97}; Peripheral membrane protein {ECO:0000250|UniProtKB:Q3UR97}; Cytoplasmic side {ECO:0000250|UniProtKB:Q3UR97}.


uniprotID: Q9H3E2
geneSymbol: SNX25
pdb: 5WOE;
name: Sorting nexin-25
length: 840
go: ENSG00000109762;
snps: rs35700132 rs3756275 rs34120554
sequence:

opentargets:
endosome membrane [GO:0010008]; intracellular membrane-bounded organelle [GO:0043231]; phosphatidylinositol binding [GO:0035091]; type I transforming growth factor beta receptor binding [GO:0034713]; negative regulation of pathway-restricted SMAD protein phosphorylation [GO:0060394]; negative regulation of transforming growth factor beta receptor signaling pathway [GO:0030512]; protein transport [GO:0015031]; receptor catabolic process [GO:0032801]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9H3E2-1; Sequence=Displayed; Name=2; IsoId=Q9H3E2-2; Sequence=VSP_057156, VSP_057157; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Endosome membrane {ECO:0000269|PubMed:14975938}; Peripheral membrane protein {ECO:0000269|PubMed:14975938}. Note=Detected in endosome-derived secreted vesicles (exosomes) from malignant pleural effusions.


uniprotID: Q8TEQ0
geneSymbol: SNX29
name: Sorting nexin-29 (RUN domain-containing protein 2A)
length: 813
go: ENSG00000048471;
opentargets: phosphatidylinositol binding [GO:0035091]
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q8TEQ0-1; Sequence=Displayed; Name=2; IsoId=Q8TEQ0-2; Sequence=VSP_027281; Note=No experimental confirmation available.; 


uniprotID: Q9Y5X3
geneSymbol: SNX5
reactome: R-HSA-432722;
pdb: 1SYS;5TGH;5TGI;5TGJ;5WY2;
name: Sorting nexin-5
length: 404
go: ENSG00000089006;
sequence:

opentargets:
brush border [GO:0005903]; cytoplasmic vesicle membrane [GO:0030659]; cytosol [GO:0005829]; early endosome membrane [GO:0031901]; extrinsic component of cytoplasmic side of plasma membrane [GO:0031234]; extrinsic component of endosome membrane [GO:0031313]; macropinocytic cup [GO:0070685]; phagocytic cup [GO:0001891]; retromer complex [GO:0030904]; retromer, tubulation complex [GO:0030905]; ruffle [GO:0001726]; tubular endosome [GO:0097422]; cadherin binding [GO:0045296]; D1 dopamine receptor binding [GO:0031748]; dynactin binding [GO:0034452]; phosphatidylinositol binding [GO:0035091]; phosphatidylinositol-3,5-bisphosphate binding [GO:0080025]; phosphatidylinositol-4-phosphate binding [GO:0070273]; phosphatidylinositol-5-phosphate binding [GO:0010314]; protein heterodimerization activity [GO:0046982]; epidermal growth factor catabolic process [GO:0007174]; intracellular protein transport [GO:0006886]; negative regulation of blood pressure [GO:0045776]; pinocytosis [GO:0006907]; positive regulation of renal sodium excretion [GO:0035815]; regulation of macroautophagy [GO:0016241]; retrograde transport, endosome to Golgi [GO:0042147]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9Y5X3-1; Sequence=Displayed; Name=2; IsoId=Q9Y5X3-2; Sequence=VSP_056386, VSP_056387; 

location:
SUBCELLULAR LOCATION: Endosome {ECO:0000269|PubMed:11485546}. Early endosome {ECO:0000269|PubMed:17148574, ECO:0000269|PubMed:24610942}. Early endosome membrane {ECO:0000269|PubMed:15561769}; Peripheral membrane protein; Cytoplasmic side. Cell membrane {ECO:0000269|PubMed:15561769}; Peripheral membrane protein; Cytoplasmic side {ECO:0000269|PubMed:18854019}. Cytoplasmic vesicle membrane; Peripheral membrane protein; Cytoplasmic side. Cytoplasm. Cell projection, phagocytic cup. Cell projection, ruffle. Note=Recruited to the plasma membrane after EGF stimulation, which leads to increased levels of phosphatidylinositol 3,4-bisphosphate (PdtIns(3,4)P2) (PubMed:15561769). Detected on macropinosomes (PubMed:16968745, PubMed:21048941). Targeted to membrane ruffles in response to EGFR stimulation. {ECO:0000269|PubMed:15561769, ECO:0000269|PubMed:16968745, ECO:0000269|PubMed:21048941}.


uniprotID: Q9Y5X2
geneSymbol: SNX8
name: Sorting nexin-8
length: 465
go: ENSG00000106266;
sequence:

opentargets:
cytosol [GO:0005829]; early endosome membrane [GO:0031901]; intracellular membrane-bounded organelle [GO:0043231]; identical protein binding [GO:0042802]; phosphatidylinositol binding [GO:0035091]; early endosome to Golgi transport [GO:0034498]; intracellular protein transport [GO:0006886]

location:
SUBCELLULAR LOCATION: Early endosome membrane {ECO:0000269|PubMed:19782049}; Peripheral membrane protein {ECO:0000269|PubMed:19782049}; Cytoplasmic side {ECO:0000269|PubMed:19782049}. Note=Colocalizes with retromer components.


uniprotID: Q9H2Y9
geneSymbol: SLCO5A1
length: 848
go: ENSG00000137571;
snps: rs3750266
location: SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein.
name:
Solute carrier organic anion transporter family member 5A1 (Organic anion transporter polypeptide-related protein 4) (OATP-RP4) (OATPRP4) (Solute carrier family 21 member 15)

sequence:

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

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q9H2Y9-1; Sequence=Displayed; Name=2; IsoId=Q9H2Y9-2; Sequence=VSP_045498; Note=No experimental confirmation available.; Name=3; IsoId=Q9H2Y9-3; Sequence=VSP_045499, VSP_045500; Note=No experimental confirmation available.; 


uniprotID: Q9BZZ2
geneSymbol: SIGLEC1
reactome: R-HSA-198933;
name: Sialoadhesin (Sialic acid-binding Ig-like lectin 1) (Siglec-1) (CD antigen CD169)
length: 1709
go: ENSG00000088827;
drug: DB02379;DB03721;
snps: rs35953127 rs6037651 rs625372 rs34924243 rs709012 rs3746638 rs3746636 rs16988873 rs2853217
sequence:

opentargets:
extracellular region [GO:0005576]; integral component of membrane [GO:0016021]; plasma membrane [GO:0005886]; carbohydrate binding [GO:0030246]; cell-cell adhesion [GO:0098609]; cell-matrix adhesion [GO:0007160]; endocytosis [GO:0006897]; inflammatory response [GO:0006954]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Comment=Additional isoforms seem to exist.; Name=1; IsoId=Q9BZZ2-1; Sequence=Displayed; Name=2; IsoId=Q9BZZ2-2; Sequence=VSP_002571; Name=3; IsoId=Q9BZZ2-3; Sequence=VSP_002572; Note=No experimental confirmation available.; 


uniprotID: O75908
geneSymbol: SOAT2
reactome: R-HSA-8964038;
length: 522
go: ENSG00000167780;
drug: DB01094;
snps: rs9658625 rs2272296
location: SUBCELLULAR LOCATION: Endoplasmic reticulum membrane; Multi-pass membrane protein.
name:
Sterol O-acyltransferase 2 (EC 2.3.1.26) (Acyl-coenzyme A:cholesterol acyltransferase 2) (ACAT-2) (Cholesterol acyltransferase 2)

sequence:

opentargets:
brush border [GO:0005903]; endoplasmic reticulum [GO:0005783]; endoplasmic reticulum membrane [GO:0005789]; integral component of membrane [GO:0016021]; cholesterol binding [GO:0015485]; cholesterol O-acyltransferase activity [GO:0034736]; fatty-acyl-CoA binding [GO:0000062]; transferase activity, transferring acyl groups [GO:0016746]; cholesterol efflux [GO:0033344]; cholesterol esterification [GO:0034435]; cholesterol homeostasis [GO:0042632]; cholesterol metabolic process [GO:0008203]; intestinal cholesterol absorption [GO:0030299]; low-density lipoprotein particle clearance [GO:0034383]; macrophage derived foam cell differentiation [GO:0010742]; very-low-density lipoprotein particle assembly [GO:0034379]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; Synonyms=ACAD2a; IsoId=O75908-1; Sequence=Displayed; Name=2; Synonyms=ACAD2b; IsoId=O75908-2; Sequence=VSP_057159; Note=Lower enzymatic activity.; Name=3; Synonyms=ACAD2c; IsoId=O75908-3; Sequence=VSP_057158, VSP_057160; Note=Lower enzymatic activity.; Name=4; IsoId=O75908-4; Sequence=VSP_057161, VSP_057162; Note=No experimental confirmation available.; 


uniprotID: A7XYQ1
geneSymbol: SOBP
name: Sine oculis-binding protein homolog (Jackson circler protein 1)
length: 873
go: ENSG00000112320;
snps: rs9486659
sequence:

opentargets:
nucleus [GO:0005634]; metal ion binding [GO:0046872]; SUMO polymer binding [GO:0032184]; cochlea development [GO:0090102]; cognition [GO:0050890]; inner ear morphogenesis [GO:0042472]; locomotory behavior [GO:0007626]; sensory perception of sound [GO:0007605]


uniprotID: O94956
geneSymbol: SLCO2B1
reactome: R-HSA-879518;
length: 709
snps: rs35199625 rs12422149 rs1621378 rs2306168
location: SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein.
name:
Solute carrier organic anion transporter family member 2B1 (Organic anion transporter B) (OATP-B) (Organic anion transporter polypeptide-related protein 2) (OATP-RP2) (OATPRP2) (Solute carrier family 21 member 9)

sequence:

opentargets:
integral component of plasma membrane [GO:0005887]; plasma membrane [GO:0005886]; bile acid transmembrane transporter activity [GO:0015125]; organic anion transmembrane transporter activity [GO:0008514]; sodium-independent organic anion transmembrane transporter activity [GO:0015347]; bile acid and bile salt transport [GO:0015721]; sodium-independent organic anion transport [GO:0043252]

drug:
DB03166;DB00770;DB01076;DB03793;DB01053;DB04272;DB00286;DB05804;DB00390;DB00917;DB01049;DB00783;DB00655;DB00950;DB01095;DB01016;DB01050;DB01088;DB04398;DB00654;DB00471;DB03467;DB00627;DB03902;DB02746;DB08860;DB00175;DB04216;DB01045;DB01098;DB00936;DB04348;DB01124;

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative promoter usage, Alternative splicing; Named isoforms=4;  Name=1; Synonyms=1b, FL; IsoId=O94956-1; Sequence=Displayed; Name=2; IsoId=O94956-2; Sequence=VSP_006147, VSP_006148; Note=No experimental confirmation available.; Name=3; Synonyms=1e, Short; IsoId=O94956-3; Sequence=VSP_054109; Note=Functional transporter. Predominant isoform in liver, expression at promoter is regulated by HNF4alpha.; Name=4; IsoId=O94956-4; Sequence=VSP_054110; Note=No experimental confirmation available.; 


uniprotID: O14512
geneSymbol: SOCS7
length: 581
go: ENSG00000274211;
name:
Suppressor of cytokine signaling 7 (SOCS-7) (Nck, Ash and phospholipase C gamma-binding protein) (Nck-associated protein 4) (NAP-4)

sequence:

opentargets:
cytosol [GO:0005829]; nucleus [GO:0005634]; phosphatidylinositol 3-kinase complex [GO:0005942]; plasma membrane [GO:0005886]; 1-phosphatidylinositol-3-kinase regulator activity [GO:0046935]; SH3 domain binding [GO:0017124]; fat cell differentiation [GO:0045444]; insulin receptor signaling pathway [GO:0008286]; intracellular signal transduction [GO:0035556]; layer formation in cerebral cortex [GO:0021819]; negative regulation of signal transduction [GO:0009968]; phosphatidylinositol phosphorylation [GO:0046854]; protein ubiquitination [GO:0016567]; radial glia guided migration of Purkinje cell [GO:0021942]; regulation of growth [GO:0040008]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=O14512-1; Sequence=Displayed; Name=2; IsoId=O14512-2; Sequence=VSP_021645; 

location:
SUBCELLULAR LOCATION: Cytoplasm. Cell membrane; Peripheral membrane protein; Cytoplasmic side. Nucleus. Note=Mostly cytoplasmic, but shuttles between the cytoplasm and the nucleus. Rapidly relocalizes to the nucleus after UV irradiation. Cytoplasmic location depends upon SEPT7 presence.


uniprotID: P01242
geneSymbol: GH2
reactome: R-HSA-1170546;R-HSA-982772;
name: Growth hormone variant (GH-V) (Growth hormone 2) (Placenta-specific growth hormone)
length: 217
go: ENSG00000136487;
snps: rs5389
location: SUBCELLULAR LOCATION: Secreted.
sequence:

opentargets:
endosome lumen [GO:0031904]; extracellular region [GO:0005576]; extracellular space [GO:0005615]; growth factor activity [GO:0008083]; growth hormone receptor binding [GO:0005131]; hormone activity [GO:0005179]; animal organ development [GO:0048513]; growth hormone receptor signaling pathway [GO:0060396]; JAK-STAT cascade involved in growth hormone signaling pathway [GO:0060397]; positive regulation of growth [GO:0045927]; positive regulation of JAK-STAT cascade [GO:0046427]; positive regulation of peptidyl-tyrosine phosphorylation [GO:0050731]; positive regulation of tyrosine phosphorylation of STAT protein [GO:0042531]; response to nutrient levels [GO:0031667]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; Synonyms=GH-V1; IsoId=P01242-1; Sequence=Displayed; Name=2; Synonyms=GH-V2; IsoId=P01242-2; Sequence=VSP_006203; Note=No experimental confirmation available.; Name=3; IsoId=P01242-3; Sequence=VSP_043206; Name=4; IsoId=P01242-4; Sequence=VSP_043480; Note=No experimental confirmation available.; 


uniprotID: Q9NX45
geneSymbol: SOHLH2
name: Spermatogenesis- and oogenesis-specific basic helix-loop-helix-containing protein 2
length: 425
go: ENSG00000120669;ENSG00000250709;
snps: rs12873478 rs2296968
sequence:

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

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q9NX45-1; Sequence=Displayed; Name=2; IsoId=Q9NX45-2; Sequence=VSP_030652, VSP_030653; Note=No experimental confirmation available.; Name=3; IsoId=Q9NX45-3; Sequence=VSP_042423; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000250|UniProtKB:Q9D489, ECO:0000255|PROSITE-ProRule:PRU00981}. Cytoplasm {ECO:0000250|UniProtKB:Q9D489}. Note=Translocates from the cytoplasm into the nucleus and the translocation is dependent on SOHLH1 expression. {ECO:0000250|UniProtKB:Q9D489}.


uniprotID: Q07889
geneSymbol: SOS1
name: Son of sevenless homolog 1 (SOS-1)
length: 1333
go: ENSG00000115904;
reactome:
R-HSA-112412;R-HSA-1236382;R-HSA-1250196;R-HSA-1250347;R-HSA-1433557;R-HSA-1433559;R-HSA-167044;R-HSA-179812;R-HSA-180336;R-HSA-186763;R-HSA-193648;R-HSA-194840;R-HSA-1963640;R-HSA-210993;R-HSA-2179392;R-HSA-2424491;R-HSA-2428933;R-HSA-2730905;R-HSA-2871796;R-HSA-2871809;R-HSA-354194;R-HSA-375165;R-HSA-416482;R-HSA-428540;R-HSA-5637810;R-HSA-5654688;R-HSA-5654693;R-HSA-5654699;R-HSA-5654700;R-HSA-5654704;R-HSA-5654706;R-HSA-5654712;R-HSA-5654719;R-HSA-5655253;R-HSA-5655291;R-HSA-5655302;R-HSA-5673001;R-HSA-74749;R-HSA-74751;R-HSA-8851805;R-HSA-8853334;R-HSA-8853338;R-HSA-8853659;R-HSA-8983432;R-HSA-9026519;R-HSA-9028731;R-HSA-9034864;R-HSA-912526;R-HSA-983695;

pdb:
1AWE;1BKD;1DBH;1NVU;1NVV;1NVW;1NVX;1Q9C;1XD2;1XD4;1XDV;2II0;3KSY;4NYI;4NYJ;4NYM;4URU;4URV;4URW;4URX;4URY;4URZ;4US0;4US1;4US2;5WFO;5WFP;5WFQ;5WFR;6D55;6D56;6D59;6D5E;6D5G;6D5H;6D5J;6D5L;6D5M;6D5V;6F08;

sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; neuronal cell body [GO:0043025]; nucleosome [GO:0000786]; plasma membrane [GO:0005886]; postsynaptic density [GO:0014069]; DNA binding [GO:0003677]; GTPase activator activity [GO:0005096]; guanyl-nucleotide exchange factor activity [GO:0005085]; protein heterodimerization activity [GO:0046982]; Ras guanyl-nucleotide exchange factor activity [GO:0005088]; Rho guanyl-nucleotide exchange factor activity [GO:0005089]; SH3 domain binding [GO:0017124]; axon guidance [GO:0007411]; B cell homeostasis [GO:0001782]; blood vessel morphogenesis [GO:0048514]; cardiac atrium morphogenesis [GO:0003209]; cytokine-mediated signaling pathway [GO:0019221]; epidermal growth factor receptor signaling pathway [GO:0007173]; ERBB2 signaling pathway [GO:0038128]; eyelid development in camera-type eye [GO:0061029]; Fc-epsilon receptor signaling pathway [GO:0038095]; G protein-coupled receptor signaling pathway [GO:0007186]; hair follicle development [GO:0001942]; heart trabecula morphogenesis [GO:0061384]; insulin receptor signaling pathway [GO:0008286]; leukocyte migration [GO:0050900]; MAPK cascade [GO:0000165]; midbrain morphogenesis [GO:1904693]; multicellular organism growth [GO:0035264]; neurotrophin TRK receptor signaling pathway [GO:0048011]; pericardium morphogenesis [GO:0003344]; positive regulation of apoptotic process [GO:0043065]; positive regulation of epidermal growth factor receptor signaling pathway [GO:0045742]; positive regulation of small GTPase mediated signal transduction [GO:0051057]; Ras protein signal transduction [GO:0007265]; regulation of pro-B cell differentiation [GO:2000973]; regulation of Rho protein signal transduction [GO:0035023]; regulation of small GTPase mediated signal transduction [GO:0051056]; regulation of T cell differentiation in thymus [GO:0033081]; regulation of T cell proliferation [GO:0042129]; roof of mouth development [GO:0060021]; signal transduction [GO:0007165]; vitellogenesis [GO:0007296]

snps:
rs150565592 rs397517164 rs397517166 rs397517172 rs142094234 rs137852812 rs137852813 rs137852813 rs397517180 rs724160007 rs397517146 rs730881041 rs267607080 rs397517147 rs730881048 rs397517148 rs397517150 rs727504295 rs730881044 rs1431574387 rs371314838 rs397517149 rs730881046 rs397517153 rs137852814 rs397517154 rs267607079 rs397517154 rs200786705 rs56219475 rs727505381 rs140811086 rs574088829 rs1335137808 rs397517159 rs1367714753 rs8192671 rs768113420 rs375550588 rs553805862 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q07889-1; Sequence=Displayed; Name=2; IsoId=Q07889-2; Sequence=VSP_056463, VSP_056464, VSP_056465; Note=No experimental confirmation available.; 


uniprotID: Q07890
geneSymbol: SOS2
reactome: R-HSA-193648;R-HSA-194840;R-HSA-416482;R-HSA-428540;R-HSA-8983432;
name: Son of sevenless homolog 2 (SOS-2)
length: 1332
go: ENSG00000100485;
sequence:

opentargets:
cytosol [GO:0005829]; nucleosome [GO:0000786]; DNA binding [GO:0003677]; guanyl-nucleotide exchange factor activity [GO:0005085]; protein heterodimerization activity [GO:0046982]; Rho guanyl-nucleotide exchange factor activity [GO:0005089]; G protein-coupled receptor signaling pathway [GO:0007186]; positive regulation of apoptotic process [GO:0043065]; positive regulation of small GTPase mediated signal transduction [GO:0051057]; regulation of Rho protein signal transduction [GO:0035023]; regulation of small GTPase mediated signal transduction [GO:0051056]; small GTPase mediated signal transduction [GO:0007264]

snps:
rs797045167 rs373233749 rs869320687 rs768547025 rs17122201 rs8010237 rs34139502 rs200387871 rs1442962879 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q07890-1; Sequence=Displayed; Name=2; IsoId=Q07890-2; Sequence=VSP_054492; Note=No experimental confirmation available.; 


uniprotID: Q9BQ15
geneSymbol: NABP2
reactome: R-HSA-6807505;
pdb: 4OWT;4OWW;4OWX;5D8E;5D8F;
length: 211
go: ENSG00000139579;
name:
SOSS complex subunit B1 (Nucleic acid-binding protein 2) (Oligonucleotide/oligosaccharide-binding fold-containing protein 2B) (Sensor of single-strand DNA complex subunit B1) (Sensor of ssDNA subunit B1) (SOSS-B1) (Single-stranded DNA-binding protein 1) (hSSB1)

sequence:

opentargets:
cytosol [GO:0005829]; nuclear chromosome, telomeric region [GO:0000784]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; SOSS complex [GO:0070876]; DNA polymerase binding [GO:0070182]; G-rich strand telomeric DNA binding [GO:0098505]; single-stranded DNA binding [GO:0003697]; cellular response to DNA damage stimulus [GO:0006974]; DNA repair [GO:0006281]; double-strand break repair via homologous recombination [GO:0000724]; establishment of protein localization to telomere [GO:0070200]; mitotic cell cycle checkpoint [GO:0007093]; positive regulation of telomere capping [GO:1904355]; response to ionizing radiation [GO:0010212]; snRNA transcription by RNA polymerase II [GO:0042795]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9BQ15-1; Sequence=Displayed; Name=2; IsoId=Q9BQ15-2; Sequence=VSP_033604; 

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:18449195, ECO:0000269|PubMed:19605351, ECO:0000269|PubMed:19683501}. Note=Localizes to nuclear foci following DNA damage. Foci formation is not cell-cycle dependent. Partial colocalization with RAD51 after ionizing radiation treatment.


uniprotID: Q96AH0
geneSymbol: NABP1
reactome: R-HSA-6807505;
length: 204
go: ENSG00000173559;
snps: rs12612256
name:
SOSS complex subunit B2 (Nucleic acid-binding protein 1) (Oligonucleotide/oligosaccharide-binding fold-containing protein 2A) (Sensor of single-strand DNA complex subunit B2) (Sensor of ssDNA subunit B2) (SOSS-B2) (Single-stranded DNA-binding protein 2) (hSSB2)

sequence:

opentargets:
cytosol [GO:0005829]; nuclear chromosome, telomeric region [GO:0000784]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; SOSS complex [GO:0070876]; RNA binding [GO:0003723]; single-stranded DNA binding [GO:0003697]; cellular response to DNA damage stimulus [GO:0006974]; DNA repair [GO:0006281]; double-strand break repair via homologous recombination [GO:0000724]; mitotic cell cycle checkpoint [GO:0007093]; response to ionizing radiation [GO:0010212]; snRNA transcription by RNA polymerase II [GO:0042795]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q96AH0-1; Sequence=Displayed; Name=2; IsoId=Q96AH0-2; Sequence=VSP_033600; Name=3; IsoId=Q96AH0-3; Sequence=VSP_033601, VSP_033602; 

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


uniprotID: Q92673
geneSymbol: SORL1
reactome: R-HSA-977225;
pdb: 2DM4;3G2S;3G2T;3WSX;3WSY;3WSZ;
length: 2214
go: ENSG00000137642;
snps: rs2298813 rs377498269 rs1699107 rs747306346 rs1792120 rs766895956
name:
Sortilin-related receptor (Low-density lipoprotein receptor relative with 11 ligand-binding repeats) (LDLR relative with 11 ligand-binding repeats) (LR11) (SorLA-1) (Sorting protein-related receptor containing LDLR class A repeats) (SorLA)

sequence:

opentargets:
early endosome [GO:0005769]; endoplasmic reticulum [GO:0005783]; endosome [GO:0005768]; endosome membrane [GO:0010008]; extracellular exosome [GO:0070062]; extracellular space [GO:0005615]; Golgi apparatus [GO:0005794]; Golgi cisterna [GO:0031985]; Golgi membrane [GO:0000139]; integral component of plasma membrane [GO:0005887]; low-density lipoprotein particle [GO:0034362]; membrane [GO:0016020]; nuclear envelope lumen [GO:0005641]; recycling endosome [GO:0055037]; trans-Golgi network [GO:0005802]; ADP-ribosylation factor binding [GO:0030306]; amyloid-beta binding [GO:0001540]; low-density lipoprotein particle binding [GO:0030169]; low-density lipoprotein particle receptor activity [GO:0005041]; transmembrane signaling receptor activity [GO:0004888]; cellular protein metabolic process [GO:0044267]; cholesterol metabolic process [GO:0008203]; lipid transport [GO:0006869]; negative regulation of amyloid-beta formation [GO:1902430]; negative regulation of aspartic-type endopeptidase activity involved in amyloid precursor protein catabolic process [GO:1902960]; negative regulation of MAP kinase activity [GO:0043407]; negative regulation of metalloendopeptidase activity involved in amyloid precursor protein catabolic process [GO:1902963]; negative regulation of neurofibrillary tangle assembly [GO:1902997]; negative regulation of neurogenesis [GO:0050768]; negative regulation of neuron death [GO:1901215]; negative regulation of protein binding [GO:0032091]; negative regulation of protein oligomerization [GO:0032460]; negative regulation of tau-protein kinase activity [GO:1902948]; positive regulation of choline O-acetyltransferase activity [GO:1902771]; positive regulation of early endosome to recycling endosome transport [GO:1902955]; positive regulation of endocytic recycling [GO:2001137]; positive regulation of ER to Golgi vesicle-mediated transport [GO:1902953]; positive regulation of protein catabolic process [GO:0045732]; positive regulation of protein exit from endoplasmic reticulum [GO:0070863]; positive regulation of protein localization to early endosome [GO:1902966]; post-Golgi vesicle-mediated transport [GO:0006892]; protein localization to Golgi apparatus [GO:0034067]; protein maturation [GO:0051604]; protein retention in Golgi apparatus [GO:0045053]; protein targeting [GO:0006605]; protein targeting to lysosome [GO:0006622]; receptor-mediated endocytosis [GO:0006898]; regulation of smooth muscle cell migration [GO:0014910]

location:
SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Single-pass type I membrane protein {ECO:0000305}. Golgi apparatus. Endosome. Secreted.


uniprotID: Q9BQB4
geneSymbol: SOST
reactome: R-HSA-201681;R-HSA-3772470;
pdb: 2K8P;3SOV;
name: Sclerostin
length: 213
go: ENSG00000167941;
snps: rs387907169
sequence:

opentargets:
extracellular region [GO:0005576]; extracellular space [GO:0005615]; Golgi apparatus [GO:0005794]; protein-containing complex [GO:0032991]; heparin binding [GO:0008201]; transcription factor binding [GO:0008134]; cellular response to parathyroid hormone stimulus [GO:0071374]; negative regulation of BMP signaling pathway [GO:0030514]; negative regulation of canonical Wnt signaling pathway [GO:0090090]; negative regulation of ossification [GO:0030279]; negative regulation of protein complex assembly [GO:0031333]; ossification [GO:0001503]; positive regulation of transcription, DNA-templated [GO:0045893]; response to mechanical stimulus [GO:0009612]; Wnt signaling pathway [GO:0016055]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9BQB4-1; Sequence=Displayed; Name=2; IsoId=Q9BQB4-2; Sequence=VSP_010189; Note=No experimental confirmation available.; 

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


uniprotID: Q9UN79
geneSymbol: SOX13
reactome: R-HSA-3769402;
length: 622
go: ENSG00000143842;
snps: rs34758764
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000255|PROSITE-ProRule:PRU00267}.
name:
Transcription factor SOX-13 (Islet cell antigen 12) (SRY (Sex determining region Y)-box 13) (Type 1 diabetes autoantigen ICA12)

sequence:

opentargets:
nucleoplasm [GO:0005654]; nucleus [GO:0005634]; DNA-binding transcription factor activity [GO:0003700]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; RNA polymerase II regulatory region sequence-specific DNA binding [GO:0000977]; sequence-specific DNA binding [GO:0043565]; anatomical structure morphogenesis [GO:0009653]; cell fate commitment [GO:0045165]; negative regulation of transcription, DNA-templated [GO:0045892]; positive regulation of transcription by RNA polymerase II [GO:0045944]; regulation of gamma-delta T cell differentiation [GO:0045586]


uniprotID: P23497
geneSymbol: SP100
reactome: R-HSA-3108214;R-HSA-877300;
name: Nuclear autoantigen Sp-100 (Nuclear dot-associated Sp100 protein) (Speckled 100 kDa)
length: 879
go: ENSG00000067066;
snps: rs12724 rs34700604
pdb:
1H5P;4PTB;5FB0;5FB1;5PWE;5PWF;5PWG;5PWH;5PWI;5PWJ;5PWK;5PWL;5PWM;5PWN;5PWO;5PWP;5PWQ;5PWR;5PWS;5PWT;5PWU;5PWV;5PWW;5PWX;5PWY;5PWZ;5PX0;5PX1;5PX2;5PX3;5PX4;5PX5;5PX6;5PX7;5PX8;5PX9;5PXA;5PXB;5PXC;5PXD;5PXE;5PXF;5PXG;5PXH;5PXI;5PXJ;5PXK;5PXL;5PXM;5PXN;5PXO;5PXP;5PXQ;5PXR;5PXS;5PXT;5PXU;5PXV;5PXW;5PXX;5PXY;5PXZ;5PY0;5PY1;5PY2;5PY3;5PY4;5PY5;5PY6;5PY7;5PY8;5PY9;5PYA;5PYB;5PYC;5PYD;5PYE;5PYF;5PYG;5PYH;5PYI;5PYJ;5PYK;5PYL;5PYM;5PYN;5PYO;5PYP;5PYQ;5PYR;5PYS;5PYT;5PYU;5PYV;5PYW;5PYX;5PYY;5PYZ;5PZ0;5PZ1;5PZ2;5PZ3;5PZ4;5PZ5;5PZ6;5PZ7;5PZ8;5PZ9;5PZA;5PZB;5PZC;5PZD;5PZE;5PZF;5PZG;5PZH;5PZI;5PZJ;6G5N;6G5P;

sequence:

opentargets:
cytoplasm [GO:0005737]; nuclear body [GO:0016604]; nuclear chromosome, telomeric region [GO:0000784]; nuclear periphery [GO:0034399]; nucleolus [GO:0005730]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; PML body [GO:0016605]; chromo shadow domain binding [GO:0070087]; DNA binding [GO:0003677]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; identical protein binding [GO:0042802]; kinase binding [GO:0019900]; protein domain specific binding [GO:0019904]; protein homodimerization activity [GO:0042803]; transcription coactivator activity [GO:0003713]; transcription corepressor activity [GO:0003714]; transcription factor binding [GO:0008134]; DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator [GO:0006978]; interferon-gamma-mediated signaling pathway [GO:0060333]; maintenance of protein location [GO:0045185]; negative regulation of cellular component movement [GO:0051271]; negative regulation of DNA binding [GO:0043392]; negative regulation of DNA-binding transcription factor activity [GO:0043433]; negative regulation of endothelial cell migration [GO:0010596]; negative regulation of protein export from nucleus [GO:0046826]; negative regulation of transcription by RNA polymerase II [GO:0000122]; negative regulation of transcription, DNA-templated [GO:0045892]; negative regulation of viral transcription [GO:0032897]; positive regulation of DNA-binding transcription factor activity [GO:0051091]; positive regulation of transcription, DNA-templated [GO:0045893]; regulation of angiogenesis [GO:0045765]; regulation of extrinsic apoptotic signaling pathway via death domain receptors [GO:1902041]; regulation of Fas signaling pathway [GO:1902044]; response to cytokine [GO:0034097]; response to interferon-gamma [GO:0034341]; response to retinoic acid [GO:0032526]; response to type I interferon [GO:0034340]; retinoic acid receptor signaling pathway [GO:0048384]; telomere maintenance [GO:0000723]; type I interferon signaling pathway [GO:0060337]; viral process [GO:0016032]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=7;  Name=Sp100-HMG; Synonyms=SP100HMG, SpAlt-HMG; IsoId=P23497-1; Sequence=Displayed; Name=Sp100-A; Synonyms=SP100A, SP100; IsoId=P23497-2; Sequence=VSP_005978, VSP_005979; Note=Major isoform.; Name=Sp100-B; Synonyms=SP100B, SpAlt-212; IsoId=P23497-3; Sequence=VSP_005980, VSP_005981; Name=Sp100-C; Synonyms=SP100C; IsoId=P23497-4; Sequence=VSP_005984; Name=SpAlt-C; IsoId=P23497-5; Sequence=VSP_005982, VSP_005983; Name=6; IsoId=P23497-6; Sequence=VSP_045869, VSP_045870, VSP_005978, VSP_005979; Note=No experimental confirmation available.; Name=7; IsoId=P23497-7; Sequence=VSP_045868, VSP_005978, VSP_005979; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Nucleus. Nucleus, PML body {ECO:0000269|PubMed:27211601}. Cytoplasm. Note=Differences in the subnuclear localization of the different isoforms seem to exist and may also be cell cycle- and interferon-dependent. Accumulates in the cytoplasm upon FAS activation.; SUBCELLULAR LOCATION: Isoform Sp100-C: Nucleus {ECO:0000269|PubMed:11313457}. Note=Forms a reticulate or track-like nuclear pattern with denser concentrations at the nuclear lamina and surrounding the nucleoli, a pattern reminiscent of heterochromatin-rich regions according to PubMed:11313457.


uniprotID: P23381
geneSymbol: WARS
reactome: R-HSA-379716;
pdb: 1O5T;1R6T;1R6U;1ULH;2AKE;2AZX;2DR2;2QUH;2QUI;2QUJ;2QUK;5UJI;5UJJ;
length: 471
go: ENSG00000140105;
drug: DB00150;DB04537;DB01831;
snps: rs2234521 rs139914390
location: SUBCELLULAR LOCATION: Cytoplasm.
name:
Tryptophan--tRNA ligase, cytoplasmic (EC 6.1.1.2) (Interferon-induced protein 53) (IFP53) (Tryptophanyl-tRNA synthetase) (TrpRS) (hWRS) [Cleaved into: T1-TrpRS; T2-TrpRS]

sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; extracellular exosome [GO:0070062]; nucleus [GO:0005634]; protein-containing complex [GO:0032991]; ATP binding [GO:0005524]; kinase inhibitor activity [GO:0019210]; protein domain specific binding [GO:0019904]; protein homodimerization activity [GO:0042803]; protein kinase binding [GO:0019901]; tryptophan-tRNA ligase activity [GO:0004830]; angiogenesis [GO:0001525]; negative regulation of cell proliferation [GO:0008285]; negative regulation of protein kinase activity [GO:0006469]; negative regulation of protein phosphorylation [GO:0001933]; positive regulation of gene expression [GO:0010628]; positive regulation of protein complex assembly [GO:0031334]; regulation of angiogenesis [GO:0045765]; regulation of protein ADP-ribosylation [GO:0010835]; translation [GO:0006412]; tRNA aminoacylation for protein translation [GO:0006418]; tryptophanyl-tRNA aminoacylation [GO:0006436]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P23381-1; Sequence=Displayed; Name=2; Synonyms=mini TrpRS; IsoId=P23381-2; Sequence=VSP_038221; 


uniprotID: Q9HAJ7
geneSymbol: SAP30L
reactome: R-HSA-3214815;R-HSA-427413;
pdb: 2N1U;
length: 183
go: ENSG00000164576;
name:
Histone deacetylase complex subunit SAP30L (HCV non-structural protein 4A-transactivated protein 2) (Sin3 corepressor complex subunit SAP30L) (Sin3-associated protein p30-like)

sequence:
MNGFSTEEDSREGPPAAPAAAAPGYGQSCCLIEDGERCVRPAGNASFSKRVQKSISQKKLKLDIDKSVRHLYICDFHKNFIQSVRNKRKRKTSDDGGDSPEHDTDIPEVDLFQLQVNTLRRYKRHYKLQTRPGFNKAQLAETVSRHFRNIPVNEKETLAYFIYMVKSNKSRLDQKSEGGKQLE

opentargets:
histone deacetylase complex [GO:0000118]; nucleolus [GO:0005730]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; DNA binding [GO:0003677]; histone binding [GO:0042393]; histone deacetylase activity [GO:0004407]; non-sequence-specific DNA binding, bending [GO:0044378]; nucleosome binding [GO:0031491]; phosphatidylinositol-3-phosphate binding [GO:0032266]; phosphatidylinositol-4-phosphate binding [GO:0070273]; phosphatidylinositol-5-phosphate binding [GO:0010314]; zinc ion binding [GO:0008270]; negative regulation of transcription by RNA polymerase II [GO:0000122]; regulation of transcription, DNA-templated [GO:0006355]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q9HAJ7-1; Sequence=Displayed; Name=2; IsoId=Q9HAJ7-2; Sequence=VSP_046221; Name=3; IsoId=Q9HAJ7-3; Sequence=VSP_046860; 

location:
SUBCELLULAR LOCATION: Isoform 1: Nucleus, nucleolus {ECO:0000269|PubMed:14680513, ECO:0000269|PubMed:16820529, ECO:0000269|PubMed:18070604, ECO:0000269|PubMed:19015240}.; SUBCELLULAR LOCATION: Isoform 2: Nucleus, nucleolus {ECO:0000269|PubMed:18070604}.; SUBCELLULAR LOCATION: Isoform 3: Nucleus, nucleolus {ECO:0000269|PubMed:18070604}.


uniprotID: Q3SY56
geneSymbol: SP6
name: Transcription factor Sp6 (Krueppel-like factor 14)
length: 376
go: ENSG00000189120;
snps: rs34309518
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000250}.
sequence:

opentargets:
cytosol [GO:0005829]; nucleus [GO:0005634]; DNA binding [GO:0003677]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; metal ion binding [GO:0046872]; regulation of odontogenesis [GO:0042481]; regulation of transcription by RNA polymerase II [GO:0006357]


uniprotID: Q9NP50
geneSymbol: SINHCAF
name: SIN3-HDAC complex-associated factor (Protein FAM60A) (Tera protein homolog)
length: 221
go: ENSG00000139146;
snps: rs2304459
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000250|UniProtKB:Q8C8M1}.
sequence:

opentargets:
Sin3 complex [GO:0016580]; negative regulation of cell differentiation [GO:0045596]; negative regulation of cell migration [GO:0030336]; positive regulation of cell proliferation [GO:0008284]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9NP50-1; Sequence=Displayed; Name=2; IsoId=Q9NP50-2; Sequence=VSP_014705; 


uniprotID: Q8TEJ3
geneSymbol: SH3RF3
length: 882
go: ENSG00000172985;
name:
E3 ubiquitin-protein ligase SH3RF3 (EC 2.3.2.27) (Plenty of SH3s 2) (SH3 domain-containing RING finger protein 3) (SH3 multiple domains protein 4)

sequence:

opentargets:
metal ion binding [GO:0046872]; ubiquitin protein ligase activity [GO:0061630]; positive regulation of JNK cascade [GO:0046330]; protein autoubiquitination [GO:0051865]


uniprotID: Q96HL8
geneSymbol: SH3YL1
pdb: 2D8H;
name: SH3 domain-containing YSC84-like protein 1
length: 342
go: ENSG00000035115;
sequence:

opentargets:
ruffle membrane [GO:0032587]; phosphatase binding [GO:0019902]; phosphatidylinositol binding [GO:0035091]; phosphatidylinositol biosynthetic process [GO:0006661]; regulation of ruffle assembly [GO:1900027]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=5;  Name=1; IsoId=Q96HL8-1; Sequence=Displayed; Name=2; IsoId=Q96HL8-2; Sequence=VSP_034335; Name=3; IsoId=Q96HL8-3; Sequence=VSP_034332, VSP_034333; Name=4; IsoId=Q96HL8-4; Sequence=VSP_034332, VSP_034333, VSP_034335; Name=5; IsoId=Q96HL8-5; Sequence=VSP_034334; Note=No experimental confirmation available.; 


uniprotID: Q9BYB0
geneSymbol: SHANK3
reactome: R-HSA-6794361;R-HSA-8853659;
pdb: 6CPK;
length: 1731
name:
SH3 and multiple ankyrin repeat domains protein 3 (Shank3) (Proline-rich synapse-associated protein 2) (ProSAP2)

sequence:

opentargets:
cell junction [GO:0030054]; ciliary membrane [GO:0060170]; cytosol [GO:0005829]; dendrite [GO:0030425]; dendritic spine [GO:0043197]; extrinsic component of cytoplasmic side of plasma membrane [GO:0031234]; neuron projection [GO:0043005]; neuron spine [GO:0044309]; postsynaptic density [GO:0014069]; postsynaptic membrane [GO:0045211]; actin binding [GO:0003779]; GKAP/Homer scaffold activity [GO:0030160]; ionotropic glutamate receptor binding [GO:0035255]; protein C-terminus binding [GO:0008022]; protein self-association [GO:0043621]; receptor signaling complex scaffold activity [GO:0030159]; scaffold protein binding [GO:0097110]; SH3 domain binding [GO:0017124]; zinc ion binding [GO:0008270]; adult behavior [GO:0030534]; AMPA glutamate receptor clustering [GO:0097113]; axon guidance [GO:0007411]; brain morphogenesis [GO:0048854]; dendritic spine morphogenesis [GO:0060997]; guanylate kinase-associated protein clustering [GO:0097117]; learning [GO:0007612]; long-term synaptic potentiation [GO:0060291]; MAPK cascade [GO:0000165]; memory [GO:0007613]; negative regulation of actin filament bundle assembly [GO:0032232]; negative regulation of cell volume [GO:0045794]; NMDA glutamate receptor clustering [GO:0097114]; positive regulation of AMPA receptor activity [GO:2000969]; positive regulation of dendritic spine development [GO:0060999]; positive regulation of excitatory postsynaptic potential [GO:2000463]; positive regulation of glutamate receptor signaling pathway [GO:1900451]; positive regulation of long-term neuronal synaptic plasticity [GO:0048170]; positive regulation of long-term synaptic potentiation [GO:1900273]; positive regulation of synapse structural plasticity [GO:0051835]; positive regulation of synaptic transmission, glutamatergic [GO:0051968]; postsynaptic density assembly [GO:0097107]; regulation of AMPA receptor activity [GO:2000311]; regulation of dendritic spine morphogenesis [GO:0061001]; regulation of long-term synaptic depression [GO:1900452]; regulation of long-term synaptic potentiation [GO:1900271]; social behavior [GO:0035176]; striatal medium spiny neuron differentiation [GO:0021773]; synapse assembly [GO:0007416]; synaptic growth at neuromuscular junction [GO:0051124]; vocal learning [GO:0042297]; vocalization behavior [GO:0071625]

snps:
rs397514705 rs766856815 rs9616915 rs376862893 rs387906933 rs530255181 rs767058690 rs769454362 rs139686326 rs750186589 rs757572910 rs201483867 rs200087210 rs201973139 rs773395828 rs749130556 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative promoter usage; Named isoforms=2;  Comment=Additional isoforms seem to exist. These isoforms may be the product of multiple intragenic promoter and/or alternative splicing.; Name=1; Synonyms=A; IsoId=Q9BYB0-1; Sequence=Displayed; Note=Primarily expressed in neurons.; Name=2; Synonyms=B; IsoId=Q9BYB0-3; Sequence=VSP_053605; Note=Produced by alternative promoter usage.; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:24132240}. Cell junction, synapse, postsynaptic cell membrane, postsynaptic density {ECO:0000269|PubMed:24132240}. Cell projection, dendritic spine {ECO:0000250}. Note=In neuronal cells, extends into the region subjacent to the postsynaptic density (PSD). {ECO:0000250}.


uniprotID: Q15465
geneSymbol: SHH
pdb: 3HO5;3M1N;3MXW;6D4J;6DMY;6E1H;
length: 462
go: ENSG00000164690;
reactome:
R-HSA-373080;R-HSA-5358346;R-HSA-5362768;R-HSA-5362798;R-HSA-5632681;R-HSA-5632684;R-HSA-5635838;R-HSA-5658034;

name:
Sonic hedgehog protein (SHH) (HHG-1) (Shh unprocessed N-terminal signaling and C-terminal autoprocessing domains) (ShhNC) [Cleaved into: Sonic hedgehog protein N-product (ShhN) (Shh N-terminal processed signaling domains) (ShhNp)]

sequence:

opentargets:
cell surface [GO:0009986]; collagen-containing extracellular matrix [GO:0062023]; cytosol [GO:0005829]; endoplasmic reticulum lumen [GO:0005788]; extracellular region [GO:0005576]; extracellular space [GO:0005615]; membrane raft [GO:0045121]; plasma membrane [GO:0005886]; calcium ion binding [GO:0005509]; endopeptidase activity [GO:0004175]; glycosaminoglycan binding [GO:0005539]; laminin-1 binding [GO:0043237]; morphogen activity [GO:0016015]; patched binding [GO:0005113]; zinc ion binding [GO:0008270]; androgen metabolic process [GO:0008209]; animal organ formation [GO:0048645]; apoptotic signaling pathway [GO:0097190]; artery development [GO:0060840]; axon guidance [GO:0007411]; Bergmann glial cell differentiation [GO:0060020]; blood coagulation [GO:0007596]; branching involved in blood vessel morphogenesis [GO:0001569]; branching involved in salivary gland morphogenesis [GO:0060445]; branching involved in ureteric bud morphogenesis [GO:0001658]; branching morphogenesis of an epithelial tube [GO:0048754]; bud outgrowth involved in lung branching [GO:0060447]; camera-type eye development [GO:0043010]; canonical Wnt signaling pathway [GO:0060070]; CD4-positive or CD8-positive, alpha-beta T cell lineage commitment [GO:0043369]; cell development [GO:0048468]; cell fate specification [GO:0001708]; cell-cell signaling [GO:0007267]; cellular response to lithium ion [GO:0071285]; central nervous system development [GO:0007417]; cerebellar granule cell precursor proliferation [GO:0021930]; determination of left/right asymmetry in lateral mesoderm [GO:0003140]; dopaminergic neuron differentiation [GO:0071542]; dorsal/ventral neural tube patterning [GO:0021904]; dorsal/ventral pattern formation [GO:0009953]; ectoderm development [GO:0007398]; embryonic digestive tract morphogenesis [GO:0048557]; embryonic digit morphogenesis [GO:0042733]; embryonic foregut morphogenesis [GO:0048617]; embryonic forelimb morphogenesis [GO:0035115]; embryonic hindlimb morphogenesis [GO:0035116]; embryonic limb morphogenesis [GO:0030326]; embryonic pattern specification [GO:0009880]; embryonic skeletal system development [GO:0048706]; endocytosis [GO:0006897]; epithelial cell proliferation involved in salivary gland morphogenesis [GO:0060664]; epithelial-mesenchymal signaling involved in prostate gland development [GO:0060738]; establishment of cell polarity [GO:0030010]; forebrain development [GO:0030900]; formation of anatomical boundary [GO:0048859]; hair follicle morphogenesis [GO:0031069]; heart development [GO:0007507]; heart looping [GO:0001947]; hindbrain development [GO:0030902]; hindgut morphogenesis [GO:0007442]; inner ear development [GO:0048839]; intein-mediated protein splicing [GO:0016539]; intermediate filament organization [GO:0045109]; left lung development [GO:0060459]; limb bud formation [GO:0060174]; lung development [GO:0030324]; lung epithelium development [GO:0060428]; lung lobe morphogenesis [GO:0060463]; lung-associated mesenchyme development [GO:0060484]; lymphoid progenitor cell differentiation [GO:0002320]; male genitalia development [GO:0030539]; mesenchymal cell proliferation involved in lung development [GO:0060916]; mesenchymal smoothened signaling pathway involved in prostate gland development [GO:0060783]; metanephric mesenchymal cell proliferation involved in metanephros development [GO:0072136]; metanephros development [GO:0001656]; midbrain development [GO:0030901]; myoblast differentiation [GO:0045445]; myotube differentiation [GO:0014902]; negative regulation of alpha-beta T cell differentiation [GO:0046639]; negative regulation of apoptotic process [GO:0043066]; negative regulation of canonical Wnt signaling pathway [GO:0090090]; negative regulation of cell differentiation [GO:0045596]; negative regulation of cell migration [GO:0030336]; negative regulation of cholesterol efflux [GO:0090370]; negative regulation of dopaminergic neuron differentiation [GO:1904339]; negative regulation of kidney smooth muscle cell differentiation [GO:2000357]; negative regulation of mesenchymal cell apoptotic process [GO:2001054]; negative regulation of proteasomal ubiquitin-dependent protein catabolic process [GO:0032435]; negative regulation of T cell proliferation [GO:0042130]; negative regulation of transcription by RNA polymerase II [GO:0000122]; negative regulation of transcription elongation from RNA polymerase II promoter [GO:0034244]; negative regulation of ureter smooth muscle cell differentiation [GO:2000062]; negative thymic T cell selection [GO:0045060]; neural crest cell migration [GO:0001755]; neuroblast proliferation [GO:0007405]; neuron fate commitment [GO:0048663]; odontogenesis of dentin-containing tooth [GO:0042475]; oligodendrocyte development [GO:0014003]; osteoblast development [GO:0002076]; pancreas development [GO:0031016]; pattern specification process [GO:0007389]; polarity specification of anterior/posterior axis [GO:0009949]; positive regulation of alpha-beta T cell differentiation [GO:0046638]; positive regulation of cell division [GO:0051781]; positive regulation of cell proliferation [GO:0008284]; positive regulation of epithelial cell proliferation involved in prostate gland development [GO:0060769]; positive regulation of hh target transcription factor activity [GO:0007228]; positive regulation of immature T cell proliferation in thymus [GO:0033092]; positive regulation of kidney smooth muscle cell differentiation [GO:2000358]; positive regulation of mesenchymal cell proliferation involved in ureter development [GO:2000729]; positive regulation of neuroblast proliferation [GO:0002052]; positive regulation of oligodendrocyte differentiation [GO:0048714]; positive regulation of protein import into nucleus [GO:0042307]; positive regulation of sclerotome development [GO:0061189]; positive regulation of skeletal muscle cell proliferation [GO:0014858]; positive regulation of skeletal muscle tissue development [GO:0048643]; positive regulation of smoothened signaling pathway [GO:0045880]; positive regulation of striated muscle cell differentiation [GO:0051155]; positive regulation of T cell differentiation in thymus [GO:0033089]; positive regulation of transcription by RNA polymerase II [GO:0045944]; positive regulation of transcription, DNA-templated [GO:0045893]; positive regulation of ureter smooth muscle cell differentiation [GO:2000063]; positive regulation of Wnt signaling pathway [GO:0030177]; positive thymic T cell selection [GO:0045059]; primary prostatic bud elongation [GO:0060516]; prostate epithelial cord elongation [GO:0060523]; prostate gland development [GO:0030850]; protein localization to nucleus [GO:0034504]; regulation of cell proliferation [GO:0042127]; regulation of mesenchymal cell proliferation involved in prostate gland development [GO:0060782]; regulation of nodal signaling pathway involved in determination of lateral mesoderm left/right asymmetry [GO:1900175]; regulation of odontogenesis [GO:0042481]; regulation of prostatic bud formation [GO:0060685]; regulation of protein localization to nucleus [GO:1900180]; regulation of proteolysis [GO:0030162]; renal system development [GO:0072001]; right lung development [GO:0060458]; roof of mouth development [GO:0060021]; salivary gland cavitation [GO:0060662]; smoothened signaling pathway [GO:0007224]; smoothened signaling pathway involved in regulation of cerebellar granule cell precursor cell proliferation [GO:0021938]; somite development [GO:0061053]; spinal cord dorsal/ventral patterning [GO:0021513]; spinal cord motor neuron differentiation [GO:0021522]; stem cell development [GO:0048864]; striated muscle tissue development [GO:0014706]; T cell differentiation in thymus [GO:0033077]; telencephalon regionalization [GO:0021978]; thalamus development [GO:0021794]; thymus development [GO:0048538]; thyroid gland development [GO:0030878]; trachea morphogenesis [GO:0060439]; tracheoesophageal septum formation [GO:1905327]; vasculogenesis [GO:0001570]; ventral midline development [GO:0007418]

snps:
rs28936675 rs104894050 rs587778792 rs104894049 rs267607047 rs104894040 rs104894040 rs587778799 rs752650571 rs587778805 rs104894042 rs104894043 rs1347054935 rs587778806 rs556192490 rs104894047 rs955894039 rs104894052 rs886042458 rs137853341 rs1131692264 rs104894048 

location:
SUBCELLULAR LOCATION: Sonic hedgehog protein N-product: Cell membrane {ECO:0000250|UniProtKB:Q62226}; Lipid-anchor {ECO:0000250|UniProtKB:Q62226}. Note=The dual-lipidated sonic hedgehog protein N-product (ShhNp) is firmly tethered to the cell membrane where it forms multimers (PubMed:24522195). Further solubilization and release from the cell surface seem to be achieved through different mechanisms, including the interaction with DISP1 and SCUBE2, movement by lipoprotein particles, transport by cellular extensions called cytonemes or by the proteolytic removal of both terminal lipidated peptides (PubMed:26875496, PubMed:24522195). {ECO:0000305|PubMed:24522195, ECO:0000305|PubMed:26875496}.


uniprotID: Q8N5H7
geneSymbol: SH2D3C
pdb: 3T6G;
length: 860
go: ENSG00000095370;
snps: rs10760500
name:
SH2 domain-containing protein 3C (Novel SH2-containing protein 3) (SH2 domain-containing Eph receptor-binding protein 1) (SHEP1)

sequence:

opentargets:
cytoplasm [GO:0005737]; membrane [GO:0016020]; 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=6;  Name=1; IsoId=Q8N5H7-1; Sequence=Displayed; Name=2; IsoId=Q8N5H7-2; Sequence=VSP_017707; Name=3; IsoId=Q8N5H7-3; Sequence=VSP_017706; Name=4; IsoId=Q8N5H7-4; Sequence=VSP_017708; Note=No experimental confirmation available.; Name=5; IsoId=Q8N5H7-5; Sequence=VSP_044581, VSP_044582; Note=No experimental confirmation available.; Name=6; IsoId=Q8N5H7-6; Sequence=VSP_044581; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250}. Membrane {ECO:0000250}; Peripheral membrane protein {ECO:0000250}. Note=Associated with the membrane when EGF-stimulated. Found at ruffling membranes (By similarity). {ECO:0000250}.


uniprotID: Q149N8
geneSymbol: SHPRH
reactome: R-HSA-8866654;
pdb: 2M85;4QN1;
length: 1683
go: ENSG00000146414;
snps: rs1411096648
name:
E3 ubiquitin-protein ligase SHPRH (EC 2.3.2.27) (EC 3.6.4.-) (RING-type E3 ubiquitin transferase SHPRH) (SNF2, histone-linker, PHD and RING finger domain-containing helicase)

sequence:

opentargets:
nucleoplasm [GO:0005654]; nucleosome [GO:0000786]; ATP binding [GO:0005524]; DNA binding [GO:0003677]; helicase activity [GO:0004386]; metal ion binding [GO:0046872]; ubiquitin protein ligase activity [GO:0061630]; ubiquitin protein ligase binding [GO:0031625]; ubiquitin-protein transferase activity [GO:0004842]; cellular response to DNA damage stimulus [GO:0006974]; DNA repair [GO:0006281]; nucleosome assembly [GO:0006334]; protein polyubiquitination [GO:0000209]; protein ubiquitination [GO:0016567]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=Q149N8-1; Sequence=Displayed; Name=2; IsoId=Q149N8-2; Sequence=VSP_024753, VSP_024757, VSP_024758; Note=No experimental confirmation available. May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.; Name=3; IsoId=Q149N8-4; Sequence=VSP_024756, VSP_024759, VSP_024762, VSP_024763; Note=No experimental confirmation available.; Name=4; IsoId=Q149N8-5; Sequence=VSP_024760, VSP_024761; Note=No experimental confirmation available. May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.; 


uniprotID: Q5VXU9
geneSymbol: SHOC1
name: Protein shortage in chiasmata 1 ortholog (EC 3.6.-.-)
length: 1444
go: ENSG00000165181;
sequence:

opentargets:
condensed nuclear chromosome [GO:0000794]; ATPase activity [GO:0016887]; single-stranded DNA binding [GO:0003697]; resolution of meiotic recombination intermediates [GO:0000712]

snps:
rs10981047 rs7470491 rs1322257 rs11791445 rs7868266 rs7036568 rs1407390 rs6477845 rs1475110 rs7869279 rs1322254 rs10981009 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q5VXU9-1; Sequence=Displayed; Note=Gene prediction confirmed by EST data.; Name=2; IsoId=Q5VXU9-2; Sequence=VSP_014747, VSP_014748, VSP_014749; Name=3; IsoId=Q5VXU9-3; Sequence=VSP_046641; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Chromosome {ECO:0000250|UniProtKB:A2ALV5}. Note=Localizes to meiotic chromosomes; associates with mid-stage meiotic recombination intermediates. Localization requires meiotic double-strand breaks (DSBs) recombination intermediates catalyzed by DMC1. {ECO:0000250|UniProtKB:A2ALV5}.


uniprotID: B8ZZ34
geneSymbol: SHISA8
name: Protein shisa-8 (Shisa family member 8)
length: 397
go: ENSG00000234965;
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Single-pass type I membrane protein {ECO:0000305}.
sequence:

opentargets:
AMPA glutamate receptor complex [GO:0032281]; dendritic spine membrane [GO:0032591]; postsynaptic density [GO:0014069]; postsynaptic membrane [GO:0045211]; synapse [GO:0045202]; regulation of AMPA receptor activity [GO:2000311]; regulation of short-term neuronal synaptic plasticity [GO:0048172]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=2; IsoId=B8ZZ34-1; Sequence=Displayed; Name=1; IsoId=B8ZZ34-3; Sequence=VSP_059385; 


uniprotID: Q9NSC7
geneSymbol: ST6GALNAC1
reactome: R-HSA-4085001;
length: 600
go: ENSG00000070526;
snps: rs8077382 rs35948039
name:
Alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase 1 (EC 2.4.99.3) (GalNAc alpha-2,6-sialyltransferase I) (ST6GalNAc I) (ST6GalNAcI) (Sialyltransferase 7A) (SIAT7-A)

sequence:

opentargets:
Golgi membrane [GO:0000139]; integral component of membrane [GO:0016021]; alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase activity [GO:0001665]; sialyltransferase activity [GO:0008373]; oligosaccharide biosynthetic process [GO:0009312]; protein glycosylation [GO:0006486]


uniprotID: Q9NR46
geneSymbol: SH3GLB2
name: Endophilin-B2 (SH3 domain-containing GRB2-like protein B2)
length: 395
go: ENSG00000148341;
snps: rs17455482 rs17455475
location: SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:11161816}.
sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; nucleoplasm [GO:0005654]; cadherin binding [GO:0045296]; identical protein binding [GO:0042802]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9NR46-1; Sequence=Displayed; Name=2; IsoId=Q9NR46-2; Sequence=VSP_009278, VSP_009279; Note=No experimental confirmation available.; 


uniprotID: Q9UNP4
geneSymbol: ST3GAL5
reactome: R-HSA-4085001;
length: 418
go: ENSG00000115525;
drug: DB05867;
snps: rs1138484
name:
Lactosylceramide alpha-2,3-sialyltransferase (EC 2.4.99.9) (CMP-NeuAc:lactosylceramide alpha-2,3-sialyltransferase) (Ganglioside GM3 synthase) (ST3Gal V) (ST3GalV) (Sialyltransferase 9)

sequence:

opentargets:
Golgi membrane [GO:0000139]; integral component of membrane [GO:0016021]; integral component of plasma membrane [GO:0005887]; beta-galactoside (CMP) alpha-2,3-sialyltransferase activity [GO:0003836]; lactosylceramide alpha-2,3-sialyltransferase activity [GO:0047291]; neolactotetraosylceramide alpha-2,3-sialyltransferase activity [GO:0004513]; sialyltransferase activity [GO:0008373]; carbohydrate metabolic process [GO:0005975]; ganglioside biosynthetic process [GO:0001574]; glycosphingolipid biosynthetic process [GO:0006688]; protein glycosylation [GO:0006486]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q9UNP4-1; Sequence=Displayed; Name=2; IsoId=Q9UNP4-2; Sequence=VSP_033686; Name=3; IsoId=Q9UNP4-3; Sequence=VSP_033687, VSP_033688; 


uniprotID: Q8NBJ9
geneSymbol: SIDT2
name: SID1 transmembrane family member 2
length: 832
go: ENSG00000149577;
snps: rs12285035 rs17120425
sequence:

opentargets:
integral component of membrane [GO:0016021]; lysosomal membrane [GO:0005765]; lysosome [GO:0005764]; plasma membrane [GO:0005886]; AP-1 adaptor complex binding [GO:0035650]; AP-2 adaptor complex binding [GO:0035612]; DNA binding [GO:0003677]; double-stranded RNA binding [GO:0003725]; nucleic acid transmembrane transporter activity [GO:0051032]; RNA transmembrane transporter activity [GO:0051033]; cell morphogenesis [GO:0000902]; dsRNA transport [GO:0033227]; glucose homeostasis [GO:0042593]; regulation of insulin secretion involved in cellular response to glucose stimulus [GO:0061178]; response to glucose [GO:0009749]; RNA catabolic process [GO:0006401]; RNA transport [GO:0050658]; type B pancreatic cell development [GO:0003323]; type B pancreatic cell proliferation [GO:0044342]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q8NBJ9-1; Sequence=Displayed; Name=2; IsoId=Q8NBJ9-2; Sequence=VSP_013523, VSP_013524; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Lysosome membrane {ECO:0000269|PubMed:17897319, ECO:0000269|PubMed:28277980}; Multi-pass membrane protein {ECO:0000269|PubMed:17897319}. Cell membrane {ECO:0000269|PubMed:28277980}. Note=Mainly localizes to lysosomes and only partly to the plasma membrane (PubMed:28277980). Lysosomal localization is required for SIDT2-mediated intracellular degradation of endogenous RNA (By similarity). {ECO:0000250|UniProtKB:Q8CIF6, ECO:0000269|PubMed:28277980}.


uniprotID: Q9BPZ7
geneSymbol: MAPKAP1
reactome: R-HSA-1257604;R-HSA-389357;R-HSA-5218920;R-HSA-5674400;R-HSA-6804757;
pdb: 3VOQ;5ZCS;
length: 522
go: ENSG00000119487;
location: SUBCELLULAR LOCATION: Cell membrane; Peripheral membrane protein. Cytoplasmic vesicle. Nucleus.
name:
Target of rapamycin complex 2 subunit MAPKAP1 (TORC2 subunit MAPKAP1) (Mitogen-activated protein kinase 2-associated protein 1) (Stress-activated map kinase-interacting protein 1) (SAPK-interacting protein 1) (mSIN1)

sequence:

opentargets:
cytoplasm [GO:0005737]; cytoplasmic vesicle [GO:0031410]; cytosol [GO:0005829]; Golgi apparatus [GO:0005794]; nucleoplasm [GO:0005654]; plasma membrane [GO:0005886]; TORC2 complex [GO:0031932]; phosphatidic acid binding [GO:0070300]; phosphatidylinositol-3,4,5-trisphosphate binding [GO:0005547]; phosphatidylinositol-3,4-bisphosphate binding [GO:0043325]; phosphatidylinositol-3,5-bisphosphate binding [GO:0080025]; phosphatidylinositol-4,5-bisphosphate binding [GO:0005546]; protein kinase binding [GO:0019901]; Ras GTPase binding [GO:0017016]; activation of protein kinase B activity [GO:0032148]; establishment or maintenance of actin cytoskeleton polarity [GO:0030950]; negative regulation of Ras protein signal transduction [GO:0046580]; positive regulation of peptidyl-serine phosphorylation [GO:0033138]; regulation of cellular response to oxidative stress [GO:1900407]; substantia nigra development [GO:0021762]; TORC2 signaling [GO:0038203]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=6;  Name=1; Synonyms=beta, gamma; IsoId=Q9BPZ7-1; Sequence=Displayed; Name=2; Synonyms=alpha, beta; IsoId=Q9BPZ7-2; Sequence=VSP_006098; Name=3; IsoId=Q9BPZ7-3; Sequence=VSP_033204; Name=4; IsoId=Q9BPZ7-4; Sequence=VSP_033202; Note=Not involved in a TORC2 complex.; Name=5; Synonyms=alpha; IsoId=Q9BPZ7-5; Sequence=VSP_033203, VSP_033207; Name=6; Synonyms=gamma; IsoId=Q9BPZ7-6; Sequence=VSP_033205, VSP_033206; 


uniprotID: A6NLE4
geneSymbol: SMIM23
name: Small integral membrane protein 23
length: 172
go: ENSG00000185662;
opentargets: integral component of membrane [GO:0016021]; plasma membrane [GO:0005886]
snps: rs10037031
sequence:
MATQQVDSRRQVAAEQVAAQLLERRRGSHCDDEKQTLLALLILVLYLSTEIWGSSWEVSERIRECNYYQNLAVPQGLEYQTNEPSEEPIKTIRNWLKEKLHVFSEKLEEEVQQLEQLAWDLELWLDALLGEPHQEEHCSTYKSHLWEWAWALGREHKGGEGLLEISLSGAEL

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


uniprotID: Q9H173
geneSymbol: SIL1
name: Nucleotide exchange factor SIL1 (BiP-associated protein) (BAP)
length: 461
go: ENSG00000120725;
snps: rs35581768
sequence:

opentargets:
cytoplasm [GO:0005737]; endoplasmic reticulum [GO:0005783]; endoplasmic reticulum lumen [GO:0005788]; extracellular space [GO:0005615]; adenyl-nucleotide exchange factor activity [GO:0000774]; unfolded protein binding [GO:0051082]; intracellular protein transport [GO:0006886]; protein folding [GO:0006457]

location:
SUBCELLULAR LOCATION: Endoplasmic reticulum lumen {ECO:0000269|PubMed:12356756, ECO:0000269|PubMed:16282978}.


uniprotID: Q86T20
geneSymbol: SMIM29
name: Small integral membrane protein 29 (Protein LBH)
length: 102
go: ENSG00000186577;
opentargets: integral component of membrane [GO:0016021]
location: SUBCELLULAR LOCATION: Membrane {ECO:0000255}; Single-pass membrane protein {ECO:0000255}.
sequence:
MSNTTVPNAPQANSDSMVGYVLGPFFLITLVGVVVAVVMYVQKKKRVDRLRHHLLPMYSYDPAEELHEAEQELLSDMGDPKVVHGWQSGYQHKRMPLLDVKT

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q86T20-1; Sequence=Displayed; Name=2; IsoId=Q86T20-2; Sequence=VSP_059576; 


uniprotID: Q9P1W8
geneSymbol: SIRPG
reactome: R-HSA-202733;R-HSA-391160;
pdb: 2JJW;4I2X;
length: 387
go: ENSG00000089012;
snps: rs6043409 rs6034239
name:
Signal-regulatory protein gamma (SIRP-gamma) (CD172 antigen-like family member B) (Signal-regulatory protein beta-2) (SIRP-b2) (SIRP-beta-2) (CD antigen CD172g)

sequence:

opentargets:
integral component of membrane [GO:0016021]; intracellular [GO:0005622]; membrane [GO:0016020]; plasma membrane [GO:0005886]; cell adhesion [GO:0007155]; cell-cell signaling [GO:0007267]; intracellular signal transduction [GO:0035556]; leukocyte migration [GO:0050900]; negative regulation of cell proliferation [GO:0008285]; positive regulation of cell proliferation [GO:0008284]; positive regulation of cell-cell adhesion [GO:0022409]; positive regulation of phagocytosis [GO:0050766]; positive regulation of T cell activation [GO:0050870]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=Q9P1W8-1; Sequence=Displayed; Name=2; IsoId=Q9P1W8-2; Sequence=VSP_007027; Note=No experimental confirmation available.; Name=3; IsoId=Q9P1W8-3; Sequence=VSP_007028; Note=No experimental confirmation available.; Name=4; IsoId=Q9P1W8-4; Sequence=VSP_026960; 

location:
SUBCELLULAR LOCATION: Membrane {ECO:0000269|PubMed:15383453}; Single-pass type I membrane protein {ECO:0000269|PubMed:15383453}.


uniprotID: Q9NRC8
geneSymbol: SIRT7
pdb: 5IQZ;
length: 400
go: ENSG00000187531;
name:
NAD-dependent protein deacetylase sirtuin-7 (EC 3.5.1.-) (Regulatory protein SIR2 homolog 7) (SIR2-like protein 7)

sequence:

opentargets:
cytoplasm [GO:0005737]; nucleolus [GO:0005730]; nucleolus organizer region [GO:0005731]; chromatin binding [GO:0003682]; metal ion binding [GO:0046872]; NAD+ binding [GO:0070403]; NAD-dependent histone deacetylase activity (H3-K18 specific) [GO:0097372]; histone H3 deacetylation [GO:0070932]; negative regulation of transcription by RNA polymerase II [GO:0000122]; positive regulation of transcription involved in exit from mitosis [GO:0007072]; rRNA transcription [GO:0009303]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q9NRC8-1; Sequence=Displayed; Name=2; IsoId=Q9NRC8-2; Sequence=VSP_008736, VSP_008737; Note=No experimental confirmation available.; Name=3; IsoId=Q9NRC8-3; Sequence=VSP_044396, VSP_044397; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasm. Nucleus, nucleolus. Note=Located close to the nuclear membrane when in the cytoplasm. Associated with chromatin. Associated with rDNA promoter and transcribed region. Associated with nucleolar organizer regions during mitosis.


uniprotID: O00241
geneSymbol: SIRPB1
reactome: R-HSA-2172127;R-HSA-391160;R-HSA-6798695;
pdb: 2D9C;2JJU;
length: 398
go: ENSG00000101307;
snps: rs1535882 rs2746603 rs2253427 rs2243603
location: SUBCELLULAR LOCATION: Membrane; Single-pass type I membrane protein.
name:
Signal-regulatory protein beta-1 (SIRP-beta-1) (CD172 antigen-like family member B) (CD antigen CD172b)

sequence:

opentargets:
cell surface [GO:0009986]; integral component of plasma membrane [GO:0005887]; plasma membrane [GO:0005886]; secretory granule membrane [GO:0030667]; cell surface receptor signaling pathway [GO:0007166]; innate immune response [GO:0045087]; neutrophil degranulation [GO:0043312]; positive regulation of cell-cell adhesion [GO:0022409]; positive regulation of phagocytosis [GO:0050766]; positive regulation of T cell activation [GO:0050870]; signal transduction [GO:0007165]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=O00241-1; Sequence=Displayed; Name=2; IsoId=O00241-2; Sequence=VSP_007026; Note=No experimental confirmation available.; Name=3; IsoId=Q5TFQ8-1; Sequence=External; 


uniprotID: Q5JXA9
geneSymbol: SIRPB2
length: 342
go: ENSG00000196209;
opentargets: integral component of membrane [GO:0016021]; plasma membrane [GO:0005886]
snps: rs6033876 rs6042507 rs8119290
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Single-pass type I membrane protein {ECO:0000305}.
name:
Signal-regulatory protein beta-2 (SIRP-beta-2) (Protein tyrosine phosphatase non-receptor type substrate 1-like 3) (Protein tyrosine phosphatase non-receptor type substrate protein)

sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q5JXA9-1; Sequence=Displayed; Name=2; IsoId=Q5JXA9-2; Sequence=VSP_034065, VSP_034066; Note=No experimental confirmation available.; Name=3; IsoId=Q5JXA9-3; Sequence=VSP_034065; Note=No experimental confirmation available.; 


uniprotID: Q86WV1
geneSymbol: SKAP1
pdb: 1U5D;
length: 359
go: ENSG00000141293;
snps: rs2278868 rs35288886
name:
Src kinase-associated phosphoprotein 1 (Src family-associated phosphoprotein 1) (Src kinase-associated phosphoprotein of 55 kDa) (SKAP-55) (pp55)

sequence:

opentargets:
cell-cell junction [GO:0005911]; cytoplasm [GO:0005737]; cytosol [GO:0005829]; immunological synapse [GO:0001772]; microtubule plus-end [GO:0035371]; nucleus [GO:0005634]; plasma membrane [GO:0005886]; plasma membrane raft [GO:0044853]; ruffle [GO:0001726]; T cell receptor complex [GO:0042101]; microtubule plus-end binding [GO:0051010]; protein homodimerization activity [GO:0042803]; protein kinase binding [GO:0019901]; protein phosphatase binding [GO:0019903]; protein-containing complex binding [GO:0044877]; SH2 domain binding [GO:0042169]; SH3 domain binding [GO:0017124]; SH3/SH2 adaptor activity [GO:0005070]; adaptive immune response [GO:0002250]; cell migration [GO:0016477]; cellular response to epidermal growth factor stimulus [GO:0071364]; microtubule cytoskeleton organization [GO:0000226]; positive regulation of adaptive immune response [GO:0002821]; positive regulation of cell-cell adhesion mediated by integrin [GO:0033634]; positive regulation of cell-matrix adhesion [GO:0001954]; positive regulation of heterotypic cell-cell adhesion [GO:0034116]; positive regulation of integrin activation [GO:0033625]; positive regulation of leukocyte cell-cell adhesion [GO:1903039]; positive regulation of transcription by RNA polymerase II [GO:0045944]; positive regulation of transcription, DNA-templated [GO:0045893]; protein localization to plasma membrane [GO:0072659]; T cell receptor signaling pathway [GO:0050852]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q86WV1-1; Sequence=Displayed; Name=2; IsoId=Q86WV1-2; Sequence=VSP_022179; 

location:
SUBCELLULAR LOCATION: Cytoplasm. Nucleus. Cell membrane. Note=Upon T-cell stimulation, translocates to lipid rafts at the cell membrane.


uniprotID: P12755
geneSymbol: SKI
reactome: R-HSA-201451;R-HSA-2173795;
pdb: 1MR1;1SBX;5XOD;
name: Ski oncogene (Proto-oncogene c-Ski)
length: 728
go: ENSG00000157933;
location: SUBCELLULAR LOCATION: Nucleus.
sequence:

opentargets:
centrosome [GO:0005813]; cytoplasm [GO:0005737]; nuclear body [GO:0016604]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; PML body [GO:0016605]; protein-containing complex [GO:0032991]; transcription factor complex [GO:0005667]; transcriptional repressor complex [GO:0017053]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; histone deacetylase inhibitor activity [GO:0046811]; protein domain specific binding [GO:0019904]; protein kinase binding [GO:0019901]; repressing transcription factor binding [GO:0070491]; SMAD binding [GO:0046332]; transcription corepressor activity [GO:0003714]; ubiquitin protein ligase binding [GO:0031625]; zinc ion binding [GO:0008270]; anterior/posterior axis specification [GO:0009948]; BMP signaling pathway [GO:0030509]; bone morphogenesis [GO:0060349]; camera-type eye development [GO:0043010]; camera-type eye morphogenesis [GO:0048593]; cell motility [GO:0048870]; cell proliferation [GO:0008283]; embryonic limb morphogenesis [GO:0030326]; face morphogenesis [GO:0060325]; lens morphogenesis in camera-type eye [GO:0002089]; myelination in peripheral nervous system [GO:0022011]; myotube differentiation [GO:0014902]; negative regulation of activin receptor signaling pathway [GO:0032926]; negative regulation of BMP signaling pathway [GO:0030514]; negative regulation of cell differentiation [GO:0045596]; negative regulation of cell proliferation [GO:0008285]; negative regulation of fibroblast proliferation [GO:0048147]; negative regulation of osteoblast differentiation [GO:0045668]; negative regulation of Schwann cell proliferation [GO:0010626]; negative regulation of transcription by RNA polymerase II [GO:0000122]; negative regulation of transforming growth factor beta receptor signaling pathway [GO:0030512]; neural tube closure [GO:0001843]; neuron development [GO:0048666]; nose morphogenesis [GO:0043585]; olfactory bulb development [GO:0021772]; positive regulation of DNA binding [GO:0043388]; positive regulation of transcription by RNA polymerase II [GO:0045944]; positive regulation of Wnt signaling pathway [GO:0030177]; protein homotrimerization [GO:0070207]; retina development in camera-type eye [GO:0060041]; roof of mouth development [GO:0060021]; skeletal muscle fiber development [GO:0048741]; SMAD protein signal transduction [GO:0060395]; somatic stem cell population maintenance [GO:0035019]; transcription, DNA-templated [GO:0006351]; transforming growth factor beta receptor signaling pathway [GO:0007179]

snps:
rs869312902 rs387907304 rs387907306 rs387907305 rs387907306 rs387907305 rs397514589 rs397514590 rs387907303 rs869312901 


uniprotID: Q13309
geneSymbol: SKP2
pdb: 1FQV;1FS1;1FS2;1LDK;2ASS;2AST;
length: 424
go: ENSG00000145604;
snps: rs3913486 rs3913487
reactome:
R-HSA-174178;R-HSA-187577;R-HSA-5689880;R-HSA-68949;R-HSA-69231;R-HSA-8939902;R-HSA-8951664;R-HSA-983168;

name:
S-phase kinase-associated protein 2 (Cyclin-A/CDK2-associated protein p45) (F-box protein Skp2) (F-box/LRR-repeat protein 1) (p45skp2)

sequence:

opentargets:
cytosol [GO:0005829]; nucleolus [GO:0005730]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; SCF ubiquitin ligase complex [GO:0019005]; identical protein binding [GO:0042802]; ubiquitin protein ligase activity [GO:0061630]; ubiquitin-protein transferase activity [GO:0004842]; cell proliferation [GO:0008283]; cellular response to cell-matrix adhesion [GO:0071460]; defense response to virus [GO:0051607]; G1/S transition of mitotic cell cycle [GO:0000082]; G2/M transition of mitotic cell cycle [GO:0000086]; innate immune response [GO:0045087]; positive regulation of intracellular estrogen receptor signaling pathway [GO:0033148]; positive regulation of protein polyubiquitination [GO:1902916]; positive regulation of smooth muscle cell proliferation [GO:0048661]; post-translational protein modification [GO:0043687]; proteasome-mediated ubiquitin-dependent protein catabolic process [GO:0043161]; protein deubiquitination [GO:0016579]; protein K48-linked ubiquitination [GO:0070936]; protein polyubiquitination [GO:0000209]; regulation of apoptotic process [GO:0042981]; regulation of cell cycle [GO:0051726]; SCF-dependent proteasomal ubiquitin-dependent protein catabolic process [GO:0031146]; viral process [GO:0016032]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; Synonyms=SKP2-alpha; IsoId=Q13309-1; Sequence=Displayed; Name=2; Synonyms=SKP2-beta; IsoId=Q13309-2; Sequence=VSP_008432; Name=3; IsoId=Q13309-4; Sequence=VSP_044931, VSP_044932; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:22770219}. Nucleus {ECO:0000269|PubMed:22770219}.


uniprotID: P84550
geneSymbol: SKOR1
length: 965
go: ENSG00000188779;
snps: rs776369126
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000250}.
name:
SKI family transcriptional corepressor 1 (Functional Smad-suppressing element on chromosome 15) (Fussel-15) (LBX1 corepressor 1) (Ladybird homeobox corepressor 1)

sequence:

opentargets:
dendrite [GO:0030425]; neuronal cell body [GO:0043025]; nucleus [GO:0005634]; transcription factor complex [GO:0005667]; 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 transcription, DNA-templated [GO:0045892]; 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=3;  Name=1; IsoId=P84550-1; Sequence=Displayed; Name=2; IsoId=P84550-2; Sequence=VSP_033678, VSP_033679, VSP_033680, VSP_033681; Name=3; IsoId=P84550-3; Sequence=VSP_040199, VSP_040200; Note=No experimental confirmation available.; 


uniprotID: Q8ND83
geneSymbol: SLAIN1
name: SLAIN motif-containing protein 1
length: 568
go: ENSG00000139737;
opentargets: cytoplasm [GO:0005737]; cytoskeleton [GO:0005856]
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=Q8ND83-1; Sequence=Displayed; Name=2; IsoId=Q8ND83-2; Sequence=VSP_030832; Name=3; IsoId=Q8ND83-3; Sequence=VSP_030832, VSP_043256, VSP_043257; Name=4; IsoId=Q8ND83-4; Sequence=VSP_054118; 

location:
SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton {ECO:0000269|PubMed:21646404}. Note=Colocalizes with microtubules. Detected at the plus end of growing microtubules. {ECO:0000269|PubMed:21646404}.


uniprotID: Q96DU3
geneSymbol: SLAMF6
reactome: R-HSA-198933;
pdb: 2IF7;
name: SLAM family member 6 (Activating NK receptor) (NK-T-B-antigen) (NTB-A) (CD antigen CD352)
length: 332
go: ENSG00000162739;
sequence:

opentargets:
extracellular exosome [GO:0070062]; integral component of membrane [GO:0016021]; plasma membrane [GO:0005886]; innate immune response [GO:0045087]; positive regulation of interferon-gamma production [GO:0032729]; positive regulation of interleukin-17 production [GO:0032740]; positive regulation of natural killer cell mediated cytotoxicity [GO:0045954]; regulation of immune response [GO:0050776]; T-helper 17 cell lineage commitment [GO:0072540]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q96DU3-1; Sequence=Displayed; Name=2; IsoId=Q96DU3-2; Sequence=VSP_034620; Name=3; IsoId=Q96DU3-3; Sequence=VSP_043230; Note=No experimental confirmation available.; 


uniprotID: A6NJY1
geneSymbol: SLC9B1P1
name: Putative SLC9B1-like protein SLC9B1P1 (Solute carrier family 9 subfamily B member 1 pseudogene 1)
length: 282
opentargets: integral component of membrane [GO:0016021]; solute:proton antiporter activity [GO:0015299]
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Multi-pass membrane protein {ECO:0000305}.
sequence:


uniprotID: Q9NQ25
geneSymbol: SLAMF7
reactome: R-HSA-198933;
length: 335
go: ENSG00000026751;
drug: DB06317;
snps: rs35325048 rs2295617
location: SUBCELLULAR LOCATION: Membrane; Single-pass type I membrane protein.
name:
SLAM family member 7 (CD2 subset 1) (CD2-like receptor-activating cytotoxic cells) (CRACC) (Membrane protein FOAP-12) (Novel Ly9) (Protein 19A) (CD antigen CD319)

sequence:

opentargets:
integral component of membrane [GO:0016021]; plasma membrane [GO:0005886]; identical protein binding [GO:0042802]; adaptive immune response [GO:0002250]; cell adhesion [GO:0007155]; natural killer cell activation [GO:0030101]; natural killer cell mediated cytotoxicity [GO:0042267]; regulation of immune response [GO:0050776]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=7;  Name=1; Synonyms=19A, CS1-L; IsoId=Q9NQ25-1; Sequence=Displayed; Name=2; IsoId=Q9NQ25-2; Sequence=VSP_013781; Note=No experimental confirmation available.; Name=3; Synonyms=19A24, CS1-S; IsoId=Q9NQ25-3; Sequence=VSP_013782; Name=4; IsoId=Q9NQ25-4; Sequence=VSP_054540, VSP_054541; Note=No experimental confirmation available.; Name=5; IsoId=Q9NQ25-5; Sequence=VSP_054542; Note=No experimental confirmation available.; Name=6; IsoId=Q9NQ25-6; Sequence=VSP_055292; Note=No experimental confirmation available.; Name=7; IsoId=Q9NQ25-7; Sequence=VSP_013781, VSP_055293; Note=No experimental confirmation available.; 


uniprotID: Q8IX21
geneSymbol: SLF2
name: SMC5-SMC6 complex localization factor protein 2 (Smc5/6 localization factor 1)
length: 1173
go: ENSG00000119906;
snps: rs10883563
sequence:

opentargets:
chromatin [GO:0000785]; extracellular space [GO:0005615]; intracellular membrane-bounded organelle [GO:0043231]; nucleus [GO:0005634]; site of double-strand break [GO:0035861]; protein-containing complex binding [GO:0044877]; ubiquitin protein ligase binding [GO:0031625]; cellular response to DNA damage stimulus [GO:0006974]; DNA repair [GO:0006281]; positive regulation of double-strand break repair [GO:2000781]; positive regulation of maintenance of mitotic sister chromatid cohesion [GO:0034184]; positive regulation of protein complex assembly [GO:0031334]; protein localization to site of double-strand break [GO:1990166]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q8IX21-1; Sequence=Displayed; Name=2; IsoId=Q8IX21-2; Sequence=VSP_045621; Note=No experimental confirmation available.; Name=3; IsoId=Q8IX21-3; Sequence=VSP_054914, VSP_054915; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:24561620, ECO:0000269|PubMed:25931565}. Note=Mainly localizes in the nucleus (PubMed:24561620). Colocalizes with PCNA on replication sites (PubMed:24561620). Associates with chromatin (PubMed:25931565). Accumulates with RAD18 and the SMC5-SMC6 complex at replication-coupled DNA interstrand repair and DNA double-strand breaks (DSBs) sites on chromatin in a ubiquitin-dependent manner (PubMed:25931565). {ECO:0000269|PubMed:24561620, ECO:0000269|PubMed:25931565}.


uniprotID: Q15796
geneSymbol: SMAD2
pdb: 1DEV;1KHX;1U7V;2LB3;5XOD;
length: 467
go: ENSG00000175387;
drug: DB04522;
reactome:
R-HSA-1181150;R-HSA-1502540;R-HSA-2173788;R-HSA-2173789;R-HSA-2173795;R-HSA-2173796;R-HSA-3304356;R-HSA-3311021;R-HSA-3315487;R-HSA-3656532;R-HSA-452723;R-HSA-5689880;

name:
Mothers against decapentaplegic homolog 2 (MAD homolog 2) (Mothers against DPP homolog 2) (JV18-1) (Mad-related protein 2) (hMAD-2) (SMAD family member 2) (SMAD 2) (Smad2) (hSMAD2)

sequence:

opentargets:
activin responsive factor complex [GO:0032444]; cytoplasm [GO:0005737]; cytosol [GO:0005829]; heteromeric SMAD protein complex [GO:0071144]; nuclear chromatin [GO:0000790]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; protein-containing complex [GO:0032991]; SMAD protein complex [GO:0071141]; transcription factor complex [GO:0005667]; activating transcription factor binding [GO:0033613]; chromatin binding [GO:0003682]; co-SMAD binding [GO:0070410]; disordered domain specific binding [GO:0097718]; DNA-binding transcription activator activity, RNA polymerase II-specific [GO:0001228]; DNA-binding transcription factor activity [GO:0003700]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; double-stranded DNA binding [GO:0003690]; enhancer binding [GO:0035326]; I-SMAD binding [GO:0070411]; metal ion binding [GO:0046872]; phosphatase binding [GO:0019902]; primary miRNA binding [GO:0070878]; protein heterodimerization activity [GO:0046982]; protein homodimerization activity [GO:0042803]; proximal promoter DNA-binding transcription activator activity, RNA polymerase II-specific [GO:0001077]; R-SMAD binding [GO:0070412]; RNA polymerase II proximal promoter sequence-specific DNA binding [GO:0000978]; SMAD binding [GO:0046332]; tau protein binding [GO:0048156]; transcription factor binding [GO:0008134]; transforming growth factor beta receptor binding [GO:0005160]; transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity [GO:0030618]; type I transforming growth factor beta receptor binding [GO:0034713]; ubiquitin protein ligase binding [GO:0031625]; activin receptor signaling pathway [GO:0032924]; adrenal gland development [GO:0030325]; anterior/posterior pattern specification [GO:0009952]; cell fate commitment [GO:0045165]; common-partner SMAD protein phosphorylation [GO:0007182]; embryonic cranial skeleton morphogenesis [GO:0048701]; embryonic foregut morphogenesis [GO:0048617]; endoderm formation [GO:0001706]; gastrulation [GO:0007369]; in utero embryonic development [GO:0001701]; insulin secretion [GO:0030073]; intracellular signal transduction [GO:0035556]; lung development [GO:0030324]; mesoderm formation [GO:0001707]; 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]; negative regulation of transforming growth factor beta receptor signaling pathway [GO:0030512]; nodal signaling pathway [GO:0038092]; organ growth [GO:0035265]; pancreas development [GO:0031016]; paraxial mesoderm morphogenesis [GO:0048340]; pericardium development [GO:0060039]; positive regulation of BMP signaling pathway [GO:0030513]; positive regulation of epithelial to mesenchymal transition [GO:0010718]; positive regulation of nodal signaling pathway involved in determination of lateral mesoderm left/right asymmetry [GO:1900224]; positive regulation of transcription by RNA polymerase II [GO:0045944]; positive regulation of transcription, DNA-templated [GO:0045893]; post-embryonic development [GO:0009791]; primary miRNA processing [GO:0031053]; protein deubiquitination [GO:0016579]; regulation of binding [GO:0051098]; regulation of transforming growth factor beta receptor signaling pathway [GO:0017015]; response to cholesterol [GO:0070723]; response to glucose [GO:0009749]; secondary palate development [GO:0062009]; signal transduction involved in regulation of gene expression [GO:0023019]; SMAD protein complex assembly [GO:0007183]; SMAD protein signal transduction [GO:0060395]; somatic stem cell population maintenance [GO:0035019]; transforming growth factor beta receptor signaling pathway [GO:0007179]; ureteric bud development [GO:0001657]; wound healing [GO:0042060]; zygotic specification of dorsal/ventral axis [GO:0007352]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=Long; IsoId=Q15796-1; Sequence=Displayed; Name=Short; Synonyms=Smad2Deltaexon3; IsoId=Q15796-2; Sequence=VSP_006178; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:16751101, ECO:0000269|PubMed:19289081, ECO:0000269|PubMed:9865696}. Nucleus {ECO:0000269|PubMed:16751101, ECO:0000269|PubMed:19289081, ECO:0000269|PubMed:21599657, ECO:0000269|PubMed:22781750, ECO:0000269|PubMed:9865696}. Note=Cytoplasmic and nuclear in the absence of TGF-beta. On TGF-beta stimulation, migrates to the nucleus when complexed with SMAD4 (PubMed:9865696). On dephosphorylation by phosphatase PPM1A, released from the SMAD2/SMAD4 complex, and exported out of the nucleus by interaction with RANBP1 (PubMed:16751101, PubMed:19289081). {ECO:0000269|PubMed:16751101, ECO:0000269|PubMed:19289081, ECO:0000269|PubMed:9865696}.


uniprotID: Q8IYB5
geneSymbol: SMAP1
pdb: 2CRR;
name: Stromal membrane-associated protein 1
length: 467
go: ENSG00000112305;
snps: rs2273566
sequence:

opentargets:
cytoplasm [GO:0005737]; plasma membrane [GO:0005886]; clathrin binding [GO:0030276]; GTPase activator activity [GO:0005096]; metal ion binding [GO:0046872]; positive regulation of erythrocyte differentiation [GO:0045648]; regulation of clathrin-dependent endocytosis [GO:2000369]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; Synonyms=SMAP1A; IsoId=Q8IYB5-1; Sequence=Displayed; Name=2; Synonyms=SMAP1B; IsoId=Q8IYB5-2; Sequence=VSP_018502; Name=3; IsoId=Q8IYB5-3; Sequence=VSP_018502, VSP_018503; 

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


uniprotID: Q8WU79
geneSymbol: SMAP2
pdb: 2IQJ;
name: Stromal membrane-associated protein 2 (Stromal membrane-associated protein 1-like)
length: 429
go: ENSG00000084070;
opentargets: cytoplasm [GO:0005737]; GTPase activator activity [GO:0005096]; metal ion binding [GO:0046872]
snps: rs34845213
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q8WU79-1; Sequence=Displayed; Name=2; IsoId=Q8WU79-2; Sequence=VSP_018504; Name=3; IsoId=Q8WU79-3; Sequence=VSP_043789; 

location:
SUBCELLULAR LOCATION: Cytoplasm. Note=Detected in multiple foci throughout the cytoplasm and in juxtanuclear structures. {ECO:0000250}.


uniprotID: Q13485
geneSymbol: SMAD4
pdb: 1DD1;1G88;1MR1;1U7F;1U7V;1YGS;5C4V;5MEY;5MEZ;5MF0;5UWU;
length: 552
go: ENSG00000141646;
reactome:
R-HSA-1181150;R-HSA-1502540;R-HSA-201451;R-HSA-2173789;R-HSA-2173795;R-HSA-2173796;R-HSA-3311021;R-HSA-3315487;R-HSA-452723;R-HSA-5689880;R-HSA-8941326;R-HSA-8941855;R-HSA-8952158;

name:
Mothers against decapentaplegic homolog 4 (MAD homolog 4) (Mothers against DPP homolog 4) (Deletion target in pancreatic carcinoma 4) (SMAD family member 4) (SMAD 4) (Smad4) (hSMAD4)

sequence:

opentargets:
activin responsive factor complex [GO:0032444]; centrosome [GO:0005813]; cytoplasm [GO:0005737]; cytosol [GO:0005829]; nuclear chromatin [GO:0000790]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; SMAD protein complex [GO:0071141]; transcription factor complex [GO:0005667]; chromatin binding [GO:0003682]; collagen binding [GO:0005518]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; I-SMAD binding [GO:0070411]; identical protein binding [GO:0042802]; metal ion binding [GO:0046872]; protein heterodimerization activity [GO:0046982]; 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]; R-SMAD binding [GO:0070412]; RNA polymerase II proximal promoter sequence-specific DNA binding [GO:0000978]; RNA polymerase II transcription factor binding [GO:0001085]; sulfate binding [GO:0043199]; transcription coregulator activity [GO:0003712]; transcription regulatory region DNA binding [GO:0044212]; transforming growth factor beta receptor, common-partner cytoplasmic mediator activity [GO:0030616]; atrioventricular canal development [GO:0036302]; atrioventricular valve formation [GO:0003190]; axon guidance [GO:0007411]; BMP signaling pathway [GO:0030509]; brainstem development [GO:0003360]; branching involved in ureteric bud morphogenesis [GO:0001658]; cell proliferation [GO:0008283]; cellular iron ion homeostasis [GO:0006879]; cellular response to BMP stimulus [GO:0071773]; developmental growth [GO:0048589]; embryonic digit morphogenesis [GO:0042733]; endocardial cell differentiation [GO:0060956]; endoderm development [GO:0007492]; endothelial cell activation [GO:0042118]; epithelial to mesenchymal transition involved in endocardial cushion formation [GO:0003198]; female gonad morphogenesis [GO:0061040]; formation of anatomical boundary [GO:0048859]; gastrulation with mouth forming second [GO:0001702]; in utero embryonic development [GO:0001701]; interleukin-6-mediated signaling pathway [GO:0070102]; intracellular signal transduction [GO:0035556]; left ventricular cardiac muscle tissue morphogenesis [GO:0003220]; mesoderm development [GO:0007498]; metanephric mesenchyme morphogenesis [GO:0072133]; negative regulation of cardiac muscle hypertrophy [GO:0010614]; negative regulation of cardiac myofibril assembly [GO:1905305]; negative regulation of cell death [GO:0060548]; negative regulation of cell growth [GO:0030308]; negative regulation of cell proliferation [GO:0008285]; negative regulation of ERK1 and ERK2 cascade [GO:0070373]; negative regulation of transcription by RNA polymerase II [GO:0000122]; negative regulation of transcription, DNA-templated [GO:0045892]; nephrogenic mesenchyme morphogenesis [GO:0072134]; neural crest cell differentiation [GO:0014033]; neuron fate commitment [GO:0048663]; outflow tract septum morphogenesis [GO:0003148]; ovarian follicle development [GO:0001541]; positive regulation of BMP signaling pathway [GO:0030513]; positive regulation of cell proliferation involved in heart valve morphogenesis [GO:0003251]; positive regulation of epithelial to mesenchymal transition [GO:0010718]; positive regulation of follicle-stimulating hormone secretion [GO:0046881]; positive regulation of histone H3-K4 methylation [GO:0051571]; positive regulation of histone H3-K9 acetylation [GO:2000617]; positive regulation of luteinizing hormone secretion [GO:0033686]; positive regulation of pathway-restricted SMAD protein phosphorylation [GO:0010862]; positive regulation of SMAD protein signal transduction [GO:0060391]; positive regulation of transcription by RNA polymerase II [GO:0045944]; 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]; positive regulation of transforming growth factor beta receptor signaling pathway [GO:0030511]; pri-miRNA transcription by RNA polymerase II [GO:0061614]; protein deubiquitination [GO:0016579]; protein homotrimerization [GO:0070207]; regulation of binding [GO:0051098]; regulation of hair follicle development [GO:0051797]; regulation of transforming growth factor beta receptor signaling pathway [GO:0017015]; regulation of transforming growth factor beta2 production [GO:0032909]; response to hypoxia [GO:0001666]; response to transforming growth factor beta [GO:0071559]; sebaceous gland development [GO:0048733]; secondary palate development [GO:0062009]; seminiferous tubule development [GO:0072520]; single fertilization [GO:0007338]; SMAD protein complex assembly [GO:0007183]; SMAD protein signal transduction [GO:0060395]; somatic stem cell population maintenance [GO:0035019]; somite rostral/caudal axis specification [GO:0032525]; spermatogenesis [GO:0007283]; transforming growth factor beta receptor signaling pathway [GO:0007179]; uterus development [GO:0060065]; ventricular septum morphogenesis [GO:0060412]

snps:
rs281875323 rs281875324 rs121912581 rs80338963 rs377767347 rs121912580 rs121912578 rs281875320 rs281875321 rs281875322 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:15799969, ECO:0000269|PubMed:17327236}. Nucleus {ECO:0000269|PubMed:15799969}. Note=Cytoplasmic in the absence of ligand. Migrates to the nucleus when complexed with R-SMAD (PubMed:15799969). PDPK1 prevents its nuclear translocation in response to TGF-beta (PubMed:17327236). {ECO:0000269|PubMed:15799969, ECO:0000269|PubMed:17327236}.


uniprotID: Q5VUG0
geneSymbol: SFMBT2
pdb: 1WJR;
name: Scm-like with four MBT domains protein 2 (Scm-like with 4 MBT domains protein 2)
length: 894
go: ENSG00000198879;
snps: rs3740212
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:23385818}.
sequence:

opentargets:
aggresome [GO:0016235]; intracellular membrane-bounded organelle [GO:0043231]; nuclear speck [GO:0016607]; nucleus [GO:0005634]; histone binding [GO:0042393]; transcription corepressor activity [GO:0003714]; negative regulation of gene expression [GO:0010629]; regulation of transcription, DNA-templated [GO:0006355]


uniprotID: Q9UPU9
geneSymbol: SAMD4A
length: 718
go: ENSG00000020577;
name:
Protein Smaug homolog 1 (Smaug 1) (hSmaug1) (Sterile alpha motif domain-containing protein 4A) (SAM domain-containing protein 4A)

sequence:

opentargets:
cell junction [GO:0030054]; cytosol [GO:0005829]; dendrite [GO:0030425]; fibrillar center [GO:0001650]; P-body [GO:0000932]; synapse [GO:0045202]; mRNA binding [GO:0003729]; RNA binding [GO:0003723]; translation repressor activity [GO:0030371]; negative regulation of translation [GO:0017148]; nuclear-transcribed mRNA poly(A) tail shortening [GO:0000289]; positive regulation of translation [GO:0045727]; regulation of mRNA stability [GO:0043488]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q9UPU9-1; Sequence=Displayed; Name=2; IsoId=Q9UPU9-2; Sequence=VSP_037778; Name=3; IsoId=Q9UPU9-3; Sequence=VSP_037779; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:16221671}. Cell projection, dendrite {ECO:0000250}. Cell junction, synapse, synaptosome {ECO:0000250}. Note=Enriched in synaptoneurosomes (By similarity). Shuttles between the nucleus and the cytoplasm in a CRM1-dependent manner. Colocalizes throughout the cytoplasm in granules with polyadenylated RNAs, PABPC1 and STAU1. Also frequently colocalizes in cytoplasmic stress granule-like foci with ELAVL1, TIA1 and TIAL1. {ECO:0000250}.


uniprotID: Q9UQE7
geneSymbol: SMC3
reactome: R-HSA-1221632;R-HSA-2467813;R-HSA-2468052;R-HSA-2470946;R-HSA-2500257;R-HSA-3108214;R-HSA-9018519;
length: 1217
go: ENSG00000108055;
name:
Structural maintenance of chromosomes protein 3 (SMC protein 3) (SMC-3) (Basement membrane-associated chondroitin proteoglycan) (Bamacan) (Chondroitin sulfate proteoglycan 6) (Chromosome-associated polypeptide) (hCAP)

sequence:

opentargets:
basement membrane [GO:0005604]; chromatin [GO:0000785]; chromosome [GO:0005694]; chromosome, centromeric region [GO:0000775]; cohesin complex [GO:0008278]; cytosol [GO:0005829]; intracellular [GO:0005622]; lateral element [GO:0000800]; meiotic cohesin complex [GO:0030893]; mitotic spindle pole [GO:0097431]; nuclear matrix [GO:0016363]; nuclear meiotic cohesin complex [GO:0034991]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; ATP binding [GO:0005524]; beta-tubulin binding [GO:0048487]; chromatin binding [GO:0003682]; dynein complex binding [GO:0070840]; mediator complex binding [GO:0036033]; microtubule motor activity [GO:0003777]; protein heterodimerization activity [GO:0046982]; cell division [GO:0051301]; DNA repair [GO:0006281]; interaction with symbiont [GO:0051702]; meiotic cell cycle [GO:0051321]; mitotic cell cycle [GO:0000278]; negative regulation of DNA endoreduplication [GO:0032876]; positive regulation by host of viral release from host cell [GO:0044791]; regulation of DNA replication [GO:0006275]; regulation of mitotic spindle assembly [GO:1901673]; sister chromatid cohesion [GO:0007062]; stem cell population maintenance [GO:0019827]

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000250|UniProtKB:Q9CW03}. Chromosome {ECO:0000250|UniProtKB:Q9CW03}. Chromosome, centromere {ECO:0000250|UniProtKB:Q9CW03}. Note=Associates with chromatin. Before prophase it is scattered along chromosome arms. During prophase, most of cohesin complexes dissociate from chromatin probably because of phosphorylation by PLK, except at centromeres, where cohesin complexes remain. At anaphase, the RAD21 subunit of the cohesin complex is cleaved, leading to the dissociation of the complex from chromosomes, allowing chromosome separation. The phosphorylated form at Ser-1083 is preferentially associated with unsynapsed chromosomal regions (By similarity). {ECO:0000250|UniProtKB:Q9CW03}.


uniprotID: Q5PRF9
geneSymbol: SAMD4B
length: 694
go: ENSG00000179134;
name:
Protein Smaug homolog 2 (Smaug 2) (hSmaug2) (Sterile alpha motif domain-containing protein 4B) (SAM domain-containing protein 4B)

sequence:

opentargets:
cytosol [GO:0005829]; nucleus [GO:0005634]; P-body [GO:0000932]; mRNA binding [GO:0003729]; RNA binding [GO:0003723]; translation repressor activity [GO:0030371]; negative regulation of translation [GO:0017148]; nuclear-transcribed mRNA poly(A) tail shortening [GO:0000289]; regulation of mRNA stability [GO:0043488]

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:20510020}. Nucleus {ECO:0000269|PubMed:20510020}.


uniprotID: Q0VAQ4
geneSymbol: SMAGP
name: Small cell adhesion glycoprotein (Small transmembrane and glycosylated protein)
sequence: MTSLLTTPSPREELMTTPILQPTEALSPEDGASTALIAVVITVVFLTLLSVVILIFFYLYKNKGSYVTYEPTEGEPSAIVQMESDLAKGSEKEEYFI
length: 97
go: ENSG00000170545;
opentargets:
cell junction [GO:0030054]; cytoplasmic vesicle membrane [GO:0030659]; integral component of membrane [GO:0016021]; nucleoplasm [GO:0005654]; plasma membrane [GO:0005886]

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:15021913}; Single-pass type III membrane protein {ECO:0000255}. Cytoplasmic vesicle membrane {ECO:0000269|PubMed:15986429}; Single-pass type III membrane protein {ECO:0000255}. Note=Predominantly on lateral parts of the membrane, at cell-cell epithelial junctions (PubMed:15021913). Detected on cytoplasmic membranes in undifferentiated tumors (PubMed:15986429). {ECO:0000269|PubMed:15021913, ECO:0000269|PubMed:15986429}.


uniprotID: Q9NTJ3
geneSymbol: SMC4
reactome: R-HSA-2299718;R-HSA-2514853;
pdb: 4U4P;
length: 1288
go: ENSG00000113810;
snps: rs35214835 rs33999879 rs2164675
name:
Structural maintenance of chromosomes protein 4 (SMC protein 4) (SMC-4) (Chromosome-associated polypeptide C) (hCAP-C) (XCAP-C homolog)

sequence:

opentargets:
condensin complex [GO:0000796]; cytosol [GO:0005829]; nuclear speck [GO:0016607]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; ATP binding [GO:0005524]; protein heterodimerization activity [GO:0046982]; single-stranded DNA binding [GO:0003697]; cell division [GO:0051301]; kinetochore organization [GO:0051383]; meiotic chromosome condensation [GO:0010032]; meiotic chromosome segregation [GO:0045132]; mitotic chromosome condensation [GO:0007076]; mitotic sister chromatid segregation [GO:0000070]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9NTJ3-1; Sequence=Displayed; Name=2; IsoId=Q9NTJ3-2; Sequence=VSP_007245; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:10958694}. Cytoplasm {ECO:0000269|PubMed:10958694}. Chromosome {ECO:0000269|PubMed:10958694}. Note=In interphase cells, the majority of the condensin complex is found in the cytoplasm, while a minority of the complex is associated with chromatin. A subpopulation of the complex however remains associated with chromosome foci in interphase cells. During mitosis, most of the condensin complex is associated with the chromatin. At the onset of prophase, the regulatory subunits of the complex are phosphorylated by CDC2, leading to condensin's association with chromosome arms and to chromosome condensation. Dissociation from chromosomes is observed in late telophase.


uniprotID: A2RU48
geneSymbol: SMCO3
name: Single-pass membrane and coiled-coil domain-containing protein 3
length: 225
go: ENSG00000179256;
opentargets: integral component of membrane [GO:0016021]
snps: rs11609202 rs2241221
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Single-pass membrane protein {ECO:0000305}.
sequence:


uniprotID: Q8TEV9
geneSymbol: SMCR8
length: 937
go: ENSG00000176994;
snps: rs8080966 rs1563632 rs12449313
name:
Guanine nucleotide exchange protein SMCR8 (Smith-Magenis syndrome chromosomal region candidate gene 8 protein)

sequence:

opentargets:
Atg1/ULK1 kinase complex [GO:1990316]; chromatin [GO:0000785]; cytoplasm [GO:0005737]; guanyl-nucleotide exchange factor complex [GO:0032045]; nucleoplasm [GO:0005654]; guanyl-nucleotide exchange factor activity [GO:0005085]; protein kinase binding [GO:0019901]; protein kinase inhibitor activity [GO:0004860]; autophagy [GO:0006914]; negative regulation of autophagosome assembly [GO:1902902]; negative regulation of gene expression [GO:0010629]; negative regulation of macroautophagy [GO:0016242]; negative regulation of protein kinase activity [GO:0006469]; positive regulation of autophagosome maturation [GO:1901098]; positive regulation of TOR signaling [GO:0032008]; regulation of autophagy [GO:0010506]; regulation of TORC1 signaling [GO:1903432]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q8TEV9-1; Sequence=Displayed; Name=2; IsoId=Q8TEV9-2; Sequence=VSP_025487; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:27193190, ECO:0000269|PubMed:28195531}. Nucleus {ECO:0000269|PubMed:28195531}. Note=Localizes mainly in the cytoplasm. {ECO:0000269|PubMed:28195531}.


uniprotID: P62314
geneSymbol: SNRPD1
reactome: R-HSA-191859;R-HSA-72163;R-HSA-72165;
name: Small nuclear ribonucleoprotein Sm D1 (Sm-D1) (Sm-D autoantigen) (snRNP core protein D1)
length: 119
go: ENSG00000167088;
pdb:
1B34;3CW1;3JCR;3PGW;4F7U;4PJO;4V98;4WZJ;5MQF;5O9Z;5XJC;5XJL;5XJQ;5XJR;5XJS;5XJT;5XJU;5YZG;5Z56;5Z57;5Z58;

sequence:
MKLVRFLMKLSHETVTIELKNGTQVHGTITGVDVSMNTHLKAVKMTLKNREPVQLETLSIRGNNIRYFILPDSLPLDTLLVDVEPKVKSKKREAVAGRGRGRGRGRGRGRGRGRGGPRR

opentargets:
catalytic step 2 spliceosome [GO:0071013]; commitment complex [GO:0000243]; cytosol [GO:0005829]; methylosome [GO:0034709]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; pICln-Sm protein complex [GO:0034715]; small nuclear ribonucleoprotein complex [GO:0030532]; SMN-Sm protein complex [GO:0034719]; 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]; U1 snRNP binding [GO:1990446]; 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]

location:
SUBCELLULAR LOCATION: Cytoplasm, cytosol {ECO:0000269|PubMed:18984161}. Nucleus {ECO:0000269|PubMed:11991638, ECO:0000269|PubMed:21113136, 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: Q96SB8
geneSymbol: SMC6
reactome: R-HSA-3108214;
name: Structural maintenance of chromosomes protein 6 (SMC protein 6) (SMC-6) (hSMC6)
length: 1091
go: ENSG00000163029;
snps: rs35195207 rs1065381 rs35257753 rs10221907
sequence:

opentargets:
chromosome, telomeric region [GO:0000781]; interchromatin granule [GO:0035061]; intracellular [GO:0005622]; 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]; ubiquitin protein ligase binding [GO:0031625]; 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]; telomere maintenance via recombination [GO:0000722]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q96SB8-1; Sequence=Displayed; Name=2; IsoId=Q96SB8-2; Sequence=VSP_022253; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:11408570, ECO:0000269|PubMed:25931565}. Nucleus speckle {ECO:0000269|PubMed:11408570}. Chromosome {ECO:0000250|UniProtKB:Q924W5}. Nucleus, PML body {ECO:0000269|PubMed:17589526}. Chromosome, telomere {ECO:0000269|PubMed:17589526}. Note=Colocalizes with SMC5 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). Associates with chromatin (PubMed:25931565). 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). Localizes in interchromatin granule clusters (PubMed:11408570). {ECO:0000250|UniProtKB:Q924W5, ECO:0000269|PubMed:11408570, ECO:0000269|PubMed:17589526, ECO:0000269|PubMed:25931565}.


uniprotID: P28370
geneSymbol: SMARCA1
length: 1054
go: ENSG00000102038;
snps: rs1134838
location: SUBCELLULAR LOCATION: Nucleus.
name:
Probable global transcription activator SNF2L1 (EC 3.6.4.-) (ATP-dependent helicase SMARCA1) (Nucleosome-remodeling factor subunit SNF2L) (SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily A member 1)

sequence:

opentargets:
CERF complex [GO:0090537]; intracellular membrane-bounded organelle [GO:0043231]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; NURF complex [GO:0016589]; annealing helicase activity [GO:0036310]; ATP binding [GO:0005524]; ATPase activity [GO:0016887]; DNA binding [GO:0003677]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; helicase activity [GO:0004386]; nucleosome binding [GO:0031491]; transcription factor binding [GO:0008134]; ATP-dependent chromatin remodeling [GO:0043044]; brain development [GO:0007420]; chromatin remodeling [GO:0006338]; neuron differentiation [GO:0030182]; positive regulation of transcription by RNA polymerase II [GO:0045944]; positive regulation of transcription, DNA-templated [GO:0045893]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P28370-1; Sequence=Displayed; Note=Inactive as an ATPase and a chromatin remodeler due to the presence of exon 13, but retains its ability to incorporate into the NURF complex. Predominant in non neuronal tissues.; Name=2; IsoId=P28370-2; Sequence=VSP_020406; 


uniprotID: P51531
geneSymbol: SMARCA2
reactome: R-HSA-3214858;R-HSA-8939243;
pdb: 2DAT;4QY4;5DKC;5DKH;
length: 1590
go: ENSG00000080503;
location: SUBCELLULAR LOCATION: Nucleus.
name:
Probable global transcription activator SNF2L2 (EC 3.6.4.-) (ATP-dependent helicase SMARCA2) (BRG1-associated factor 190B) (BAF190B) (Protein brahma homolog) (hBRM) (SNF2-alpha) (SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily A member 2)

sequence:

opentargets:
intermediate filament cytoskeleton [GO:0045111]; intracellular membrane-bounded organelle [GO:0043231]; nBAF complex [GO:0071565]; npBAF complex [GO:0071564]; nuclear chromatin [GO:0000790]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; SWI/SNF complex [GO:0016514]; ATP binding [GO:0005524]; chromatin binding [GO:0003682]; DNA-dependent ATPase activity [GO:0008094]; helicase activity [GO:0004386]; histone binding [GO:0042393]; transcription coactivator activity [GO:0003713]; transcription regulatory region DNA binding [GO:0044212]; chromatin remodeling [GO:0006338]; negative regulation of cell growth [GO:0030308]; 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]; nervous system development [GO:0007399]; 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]; spermatid development [GO:0007286]

snps:
rs281875198 rs281875203 rs281875191 rs281875206 rs281875193 rs281875199 rs281875202 rs281875207 rs281875194 rs281875185 rs281875188 rs281875190 rs281875205 rs281875200 rs281875192 rs281875197 rs281875195 rs281875204 rs281875240 rs281875184 rs281875187 rs281875187 rs281875186 rs281875196 rs281875189 rs281875239 rs281875201 rs281875238 rs3793510 rs2296212 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=Long; IsoId=P51531-1; Sequence=Displayed; Name=Short; IsoId=P51531-2; Sequence=VSP_000577; 


uniprotID: P62318
geneSymbol: SNRPD3
reactome: R-HSA-109688;R-HSA-111367;R-HSA-191859;R-HSA-72163;R-HSA-72165;R-HSA-77588;
pdb: 1D3B;3CW1;3JCR;3PGW;3VRI;4PJO;4WZJ;5MQF;5O9Z;5XJC;5YZG;5Z56;5Z57;5Z58;
name: Small nuclear ribonucleoprotein Sm D3 (Sm-D3) (snRNP core protein D3)
length: 126
go: ENSG00000100028;
sequence:
MSIGVPIKVLHEAEGHIVTCETNTGEVYRGKLIEAEDNMNCQMSNITVTYRDGRVAQLEQVYIRGSKIRFLILPDMLKNAPMLKSMKNKNQGSGAGRGKAAILKAQVAARGRGRGMGRGNIFQKRR

opentargets:
catalytic step 2 spliceosome [GO:0071013]; commitment complex [GO:0000243]; cytosol [GO:0005829]; methylosome [GO:0034709]; nuclear body [GO:0016604]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; pICln-Sm protein complex [GO:0034715]; small nuclear ribonucleoprotein complex [GO:0030532]; SMN-Sm protein complex [GO:0034719]; spliceosomal complex [GO:0005681]; telomerase holoenzyme complex [GO:0005697]; U1 snRNP [GO:0005685]; U12-type spliceosomal complex [GO:0005689]; U2 snRNP [GO:0005686]; U2-type catalytic step 2 spliceosome [GO:0071007]; U2-type precatalytic spliceosome [GO:0071005]; U4 snRNP [GO:0005687]; U4/U6 x U5 tri-snRNP complex [GO:0046540]; U5 snRNP [GO:0005682]; U7 snRNP [GO:0005683]; enzyme binding [GO:0019899]; histone pre-mRNA DCP binding [GO:0071208]; RNA binding [GO:0003723]; telomerase RNA binding [GO:0070034]; U1 snRNP binding [GO:1990446]; U2 snRNA binding [GO:0030620]; U7 snRNA binding [GO:0071209]; histone mRNA metabolic process [GO:0008334]; import into nucleus [GO:0051170]; mRNA splicing, via spliceosome [GO:0000398]; protein methylation [GO:0006479]; RNA splicing [GO:0008380]; spliceosomal snRNP assembly [GO:0000387]; termination of RNA polymerase II transcription [GO:0006369]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P62318-1; Sequence=Displayed; Name=2; IsoId=P62318-2; Sequence=VSP_056478; Note=No experimental confirmation available.; 

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


uniprotID: Q969G3
geneSymbol: SMARCE1
reactome: R-HSA-3214858;R-HSA-8939243;
length: 411
go: ENSG00000073584;
snps: rs387906857 rs387906857
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000255|PROSITE-ProRule:PRU00267, ECO:0000269|PubMed:12192000}.
name:
SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily E member 1 (BRG1-associated factor 57) (BAF57)

sequence:

opentargets:
nBAF complex [GO:0071565]; npBAF complex [GO:0071564]; nuclear chromatin [GO:0000790]; nuclear chromosome [GO:0000228]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; protein-containing complex [GO:0032991]; SWI/SNF complex [GO:0016514]; chromatin binding [GO:0003682]; DNA binding [GO:0003677]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; N-acetyltransferase activity [GO:0008080]; nuclear receptor binding [GO:0016922]; protein N-terminus binding [GO:0047485]; RNA binding [GO:0003723]; transcription coactivator activity [GO:0003713]; ATP-dependent chromatin remodeling [GO:0043044]; chromatin remodeling [GO:0006338]; negative regulation of transcription, DNA-templated [GO:0045892]; neurogenesis [GO:0022008]; nucleosome disassembly [GO:0006337]; regulation of transcription by RNA polymerase II [GO:0006357]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=6;  Name=1; Synonyms=BAF57; IsoId=Q969G3-1; Sequence=Displayed; Name=2; Synonyms=BAF57v; IsoId=Q969G3-2; Sequence=VSP_011801, VSP_011802; Name=3; IsoId=Q969G3-3; Sequence=VSP_047604; Name=4; IsoId=Q969G3-4; Sequence=VSP_047825; Name=5; IsoId=Q969G3-5; Sequence=VSP_047825, VSP_047826; Name=6; IsoId=Q969G3-6; Sequence=VSP_047604, VSP_047826; 


uniprotID: Q9UPR3
geneSymbol: SMG5
reactome: R-HSA-975957;
pdb: 2HWY;
name: Protein SMG5 (EST1-like protein B) (LPTS-RP1) (LPTS-interacting protein) (SMG-5 homolog) (hSMG-5)
length: 1016
go: ENSG00000198952;
snps: rs17853821
sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; nucleus [GO:0005634]; telomerase holoenzyme complex [GO:0005697]; histone deacetylase binding [GO:0042826]; 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]; ubiquitin protein ligase binding [GO:0031625]; 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]; regulation of telomere maintenance [GO:0032204]; regulation of telomere maintenance via telomerase [GO:0032210]; telomere maintenance via telomerase [GO:0007004]

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:14636577}. Nucleus {ECO:0000269|PubMed:14636577}. Note=Predominantly cytoplasmic, and nuclear. Shuttles between nucleus and cytoplasm. Detected in cytoplasmic mRNA decay bodies.


uniprotID: Q3B7S5
geneSymbol: SMIM21
name: Small integral membrane protein 21
length: 101
go: ENSG00000206026;
opentargets: integral component of membrane [GO:0016021]
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Single-pass membrane protein {ECO:0000305}.
sequence:
MDQYVSTAPPRFPIAQLGTFKQDSAGMGRIFKGNLLQKKALTTFENEHHIRFFTLLVLFHVMVLLRNHSRIQGVSEDWKRANSIFRNFLRLKSSRNTAEAE


uniprotID: Q9BZL3
geneSymbol: SMIM3
sequence: MDAVSQVPMEVVLPKHILDIWVIVLIILATIVIMTSLLLCPATAVIIYRMRTHPILSGAV
length: 60
go: ENSG00000256235;
opentargets: integral component of membrane [GO:0016021]
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Single-pass membrane protein {ECO:0000305}.
name:
Small integral membrane protein 3 (NGF-induced differentiation clone 67 protein) (Small membrane protein NID67)


uniprotID: Q9NWM0
geneSymbol: SMOX
reactome: R-HSA-141334;R-HSA-351200;
name: Spermine oxidase (EC 1.5.3.16) (Polyamine oxidase 1) (PAO-1) (PAOh1)
length: 555
go: ENSG00000088826;
drug: DB00127;
snps: rs6084654
sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; intracellular membrane-bounded organelle [GO:0043231]; nuclear membrane [GO:0031965]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; N1-acetylspermine:oxygen oxidoreductase (N1-acetylspermidine-forming) activity [GO:0052895]; norspermine:oxygen oxidoreductase activity [GO:0052894]; oxidoreductase activity [GO:0016491]; polyamine oxidase activity [GO:0046592]; spermine:oxygen oxidoreductase (spermidine-forming) activity [GO:0052901]; polyamine biosynthetic process [GO:0006596]; polyamine catabolic process [GO:0006598]; spermine catabolic process [GO:0046208]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=6;  Comment=The resultant proteins have different biochemical characteristics and substrate specificity.; Name=1; Synonyms=PAOh1, SMO; IsoId=Q9NWM0-1; Sequence=Displayed; Note=Low affinity for acetylated polyamine.; Name=2; Synonyms=PAOh2; IsoId=Q9NWM0-2; Sequence=VSP_011125; Note=Low affinity for acetylated polyamine.; Name=3; Synonyms=PAOh3; IsoId=Q9NWM0-3; Sequence=VSP_011124; Note=Major isoform. Has the highest affinity for the 3 substrates. Has a greater affinity for spermidine and spermine than for N(1)-acetylspermine.; Name=4; Synonyms=PAOh4; IsoId=Q9NWM0-4; Sequence=VSP_011125, VSP_011126; Note=Has the lowest Km values for the different substrates and has the highest affinity for spermidine.; Name=5; IsoId=Q9NWM0-5; Sequence=VSP_011123, VSP_011126; Note=Does not seem to display oxidase activity towards spermidine or N(1)-acetyl-spermine, but this has to be confirmed. No experimental confirmation available.; Name=6; Synonyms=SMO5, SMOX5; IsoId=Q9NWM0-6; Sequence=VSP_011126; Note=Substrate specificities and affinities comparable to those of isoform 1.; 

location:
SUBCELLULAR LOCATION: Isoform 1: Cytoplasm. Nucleus.; SUBCELLULAR LOCATION: Isoform 4: Cytoplasm. Nucleus.; SUBCELLULAR LOCATION: Isoform 6: Cytoplasm. Nucleus.


uniprotID: Q99835
geneSymbol: SMO
reactome: R-HSA-373080;R-HSA-5610787;R-HSA-5620922;R-HSA-5632684;R-HSA-5635838;
pdb: 4JKV;4N4W;4O9R;4QIM;4QIN;5L7D;5L7I;5V56;5V57;
name: Smoothened homolog (SMO) (Protein Gx)
length: 787
go: ENSG00000128602;
drug: DB01047;DB06786;DB09143;DB08828;
snps: rs879255280 rs17710891 rs121918347 rs121918348
sequence:

opentargets:
ciliary membrane [GO:0060170]; ciliary tip [GO:0097542]; cilium [GO:0005929]; dendrite [GO:0030425]; endocytic vesicle membrane [GO:0030666]; extracellular exosome [GO:0070062]; integral component of membrane [GO:0016021]; intracellular membrane-bounded organelle [GO:0043231]; plasma membrane [GO:0005886]; drug binding [GO:0008144]; G protein-coupled receptor activity [GO:0004930]; patched binding [GO:0005113]; anterior/posterior pattern specification [GO:0009952]; astrocyte activation [GO:0048143]; atrial septum morphogenesis [GO:0060413]; cell fate specification [GO:0001708]; cellular response to cholesterol [GO:0071397]; central nervous system development [GO:0007417]; central nervous system neuron differentiation [GO:0021953]; cerebellar cortex morphogenesis [GO:0021696]; cerebral cortex development [GO:0021987]; commissural neuron axon guidance [GO:0071679]; dentate gyrus development [GO:0021542]; detection of cell density by contact stimulus involved in contact inhibition [GO:0060248]; determination of left/right asymmetry in lateral mesoderm [GO:0003140]; dorsal/ventral neural tube patterning [GO:0021904]; epithelial-mesenchymal cell signaling [GO:0060684]; forebrain morphogenesis [GO:0048853]; hair follicle morphogenesis [GO:0031069]; heart looping [GO:0001947]; homeostasis of number of cells within a tissue [GO:0048873]; in utero embryonic development [GO:0001701]; left/right axis specification [GO:0070986]; mammary gland epithelial cell differentiation [GO:0060644]; mesenchymal to epithelial transition involved in metanephric renal vesicle formation [GO:0072285]; midgut development [GO:0007494]; multicellular organism growth [GO:0035264]; myoblast migration [GO:0051451]; negative regulation of apoptotic process [GO:0043066]; negative regulation of DNA binding [GO:0043392]; negative regulation of epithelial cell differentiation [GO:0030857]; negative regulation of gene expression [GO:0010629]; negative regulation of hair follicle development [GO:0051799]; negative regulation of transcription by RNA polymerase II [GO:0000122]; neural crest cell migration [GO:0001755]; odontogenesis of dentin-containing tooth [GO:0042475]; osteoblast differentiation [GO:0001649]; pancreas morphogenesis [GO:0061113]; positive regulation of branching involved in ureteric bud morphogenesis [GO:0090190]; positive regulation of epithelial cell proliferation [GO:0050679]; positive regulation of gene expression [GO:0010628]; positive regulation of hh target transcription factor activity [GO:0007228]; positive regulation of mesenchymal cell proliferation [GO:0002053]; positive regulation of multicellular organism growth [GO:0040018]; positive regulation of neuroblast proliferation [GO:0002052]; positive regulation of organ growth [GO:0046622]; positive regulation of protein import into nucleus [GO:0042307]; positive regulation of smoothened signaling pathway [GO:0045880]; positive regulation of transcription by RNA polymerase II [GO:0045944]; protein localization to nucleus [GO:0034504]; protein stabilization [GO:0050821]; regulation of heart morphogenesis [GO:2000826]; regulation of stem cell population maintenance [GO:2000036]; renal system development [GO:0072001]; skeletal muscle fiber development [GO:0048741]; smoothened signaling pathway [GO:0007224]; smoothened signaling pathway involved in regulation of cerebellar granule cell precursor cell proliferation [GO:0021938]; smoothened signaling pathway involved in ventral spinal cord patterning [GO:0021910]; somite development [GO:0061053]; thalamus development [GO:0021794]; type B pancreatic cell development [GO:0003323]; vasculogenesis [GO:0001570]; ventral midline determination [GO:0007371]

location:
SUBCELLULAR LOCATION: Membrane {ECO:0000269|PubMed:22072986}; Multi-pass membrane protein {ECO:0000269|PubMed:22072986}. Cell projection, cilium {ECO:0000269|PubMed:22072986}.


uniprotID: Q9UHP9
geneSymbol: SMPX
name: Small muscular protein (Stretch-responsive skeletal muscle protein)
sequence: MNMSKQPVSNVRAIQANINIPMGAFRPGAGQPPRRKECTPEVEEGVPPTSDEEKKPIPGAKKLPGPAVNLSEIQNIKSELKYVPKAEQ
length: 88
go: ENSG00000091482;
opentargets:
costamere [GO:0043034]; M band [GO:0031430]; muscle tendon junction [GO:0005927]; nucleus [GO:0005634]; striated muscle contraction [GO:0006941]


uniprotID: Q8TAQ2
geneSymbol: SMARCC2
reactome: R-HSA-3214858;R-HSA-8939243;
length: 1214
go: ENSG00000139613;
location: SUBCELLULAR LOCATION: Nucleus.
name:
SWI/SNF complex subunit SMARCC2 (BRG1-associated factor 170) (BAF170) (SWI/SNF complex 170 kDa subunit) (SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily C member 2)

sequence:

opentargets:
nBAF complex [GO:0071565]; npBAF complex [GO:0071564]; nuclear chromatin [GO:0000790]; nucleoplasm [GO:0005654]; protein-containing complex [GO:0032991]; SWI/SNF complex [GO:0016514]; DNA binding [GO:0003677]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; transcription coactivator activity [GO:0003713]; ATP-dependent chromatin remodeling [GO:0043044]; chromatin remodeling [GO:0006338]; negative regulation of transcription, DNA-templated [GO:0045892]; nervous system development [GO:0007399]; nucleosome disassembly [GO:0006337]; positive regulation of transcription, DNA-templated [GO:0045893]; regulation of transcription by RNA polymerase II [GO:0006357]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; Synonyms=SMARCC2a; IsoId=Q8TAQ2-1; Sequence=Displayed; Name=2; Synonyms=SMARCC2b; IsoId=Q8TAQ2-2; Sequence=VSP_012490, VSP_012491; Name=3; IsoId=Q8TAQ2-3; Sequence=VSP_012490, VSP_044647; Note=No experimental confirmation available.; 


uniprotID: Q8NCR6
geneSymbol: SMRP1
length: 262
go: ENSG00000164972;
snps: rs17852663
name:
Spermatid-specific manchette-related protein 1 (Ciliated bronchial epithelial protein 1) (Testis development protein NYD-SP22)

sequence:

opentargets:
manchette [GO:0002177]; nucleus [GO:0005634]; perinuclear region of cytoplasm [GO:0048471]; alpha-tubulin binding [GO:0043014]; cell differentiation [GO:0030154]; cellular protein-containing complex assembly [GO:0034622]; spermatogenesis [GO:0007283]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=5;  Name=1; Synonyms=NYD-SP22 v1; IsoId=Q8NCR6-1; Sequence=Displayed; Name=2; IsoId=Q8NCR6-2; Sequence=VSP_027169, VSP_027171; Note=No experimental confirmation available.; Name=3; Synonyms=NYD-SP22 v3; IsoId=Q8NCR6-3; Sequence=VSP_027169, VSP_027170; Note=No experimental confirmation available. {ECO:0000305}; Name=4; Synonyms=CBE1 ORF2; IsoId=Q8NCR6-4; Sequence=VSP_027169, VSP_042861; Name=5; Synonyms=CBE1 ORF1, NYD-SP22 v2; IsoId=Q8NCR6-5; Sequence=VSP_027169; 

location:
SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton {ECO:0000250}. Nucleus {ECO:0000269|PubMed:15242845}. Cytoplasm {ECO:0000269|PubMed:15242845}. Note=Localizes to the manchette in elongating spermatids (By similarity). Predominantly perinuclear in bronchial epithelial cells but also detected in the nucleus in some primary epithelial cells and in a number of cell lines. {ECO:0000250}.


uniprotID: Q9BT88
geneSymbol: SYT11
reactome: R-HSA-8856825;R-HSA-8856828;
name: Synaptotagmin-11 (Synaptotagmin XI) (SytXI)
length: 431
go: ENSG00000132718;
snps: rs822522 rs17853892
sequence:

opentargets:
axon [GO:0030424]; cell body [GO:0044297]; cell junction [GO:0030054]; dendritic spine [GO:0043197]; early phagosome [GO:0032009]; excitatory synapse [GO:0060076]; exocytic vesicle [GO:0070382]; inhibitory synapse [GO:0060077]; integral component of presynaptic active zone membrane [GO:0099059]; integral component of synaptic vesicle membrane [GO:0030285]; lysosome [GO:0005764]; neuron projection [GO:0043005]; perinuclear region of cytoplasm [GO:0048471]; phagocytic cup [GO:0001891]; phagocytic vesicle [GO:0045335]; plasma membrane [GO:0005886]; postsynaptic density [GO:0014069]; presynapse [GO:0098793]; presynaptic active zone membrane [GO:0048787]; recycling endosome [GO:0055037]; Schaffer collateral - CA1 synapse [GO:0098685]; synaptic vesicle [GO:0008021]; terminal bouton [GO:0043195]; beta-tubulin binding [GO:0048487]; clathrin binding [GO:0030276]; metal ion binding [GO:0046872]; phosphatidylserine binding [GO:0001786]; protein homodimerization activity [GO:0042803]; SNARE binding [GO:0000149]; translation initiation factor binding [GO:0031369]; ubiquitin protein ligase binding [GO:0031625]; calcium ion regulated exocytosis [GO:0017156]; calcium ion regulated lysosome exocytosis [GO:1990927]; calcium ion-regulated exocytosis of neurotransmitter [GO:0048791]; cellular response to calcium ion [GO:0071277]; negative regulation of clathrin-coated pit assembly [GO:1905469]; negative regulation of clathrin-dependent endocytosis [GO:1900186]; negative regulation of interleukin-6 secretion [GO:1900165]; negative regulation of membrane invagination [GO:1905154]; negative regulation of neurotransmitter secretion [GO:0046929]; negative regulation of phagocytosis [GO:0050765]; negative regulation of synaptic vesicle endocytosis [GO:1900243]; negative regulation of tumor necrosis factor secretion [GO:1904468]; plasma membrane repair [GO:0001778]; positive regulation of protein localization to phagocytic vesicle [GO:1905171]; protein homotetramerization [GO:0051289]; regulation of defense response to bacterium [GO:1900424]; regulation of dopamine secretion [GO:0014059]; regulation of phagosome maturation [GO:1905162]; vesicle-mediated transport [GO:0016192]

location:
SUBCELLULAR LOCATION: Membrane {ECO:0000269|PubMed:12925569}; Single-pass membrane protein {ECO:0000269|PubMed:12925569}. Cell junction, synapse {ECO:0000250}. Cytoplasmic vesicle, secretory vesicle, synaptic vesicle membrane {ECO:0000250}; Single-pass membrane protein {ECO:0000250}. Note=In substantia nigra, observed in neuronal cell bodies and neurites. Found in the core of the Lewy bodies in the brain of sporadic Parkinson disease patients.


uniprotID: Q8IV01
geneSymbol: SYT12
reactome: R-HSA-6794361;
name: Synaptotagmin-12 (Synaptotagmin XII) (SytXII)
length: 421
go: ENSG00000173227;
snps: rs11227664
sequence:

opentargets:
cell junction [GO:0030054]; exocytic vesicle [GO:0070382]; integral component of membrane [GO:0016021]; plasma membrane [GO:0005886]; synaptic vesicle membrane [GO:0030672]; calcium ion binding [GO:0005509]; calcium-dependent phospholipid binding [GO:0005544]; clathrin binding [GO:0030276]; phosphatidylserine binding [GO:0001786]; SNARE binding [GO:0000149]; calcium ion regulated exocytosis [GO:0017156]; cellular response to calcium ion [GO:0071277]; long-term synaptic potentiation [GO:0060291]; regulation of dopamine secretion [GO:0014059]; regulation of neurotransmitter secretion [GO:0046928]; spontaneous exocytosis of neurotransmitter [GO:0048792]; vesicle-mediated transport [GO:0016192]

location:
SUBCELLULAR LOCATION: Cytoplasmic vesicle, secretory vesicle, synaptic vesicle membrane {ECO:0000250}; Single-pass membrane protein {ECO:0000250}.


uniprotID: Q8NHU3
geneSymbol: SGMS2
reactome: R-HSA-1660661;
name: Phosphatidylcholine:ceramide cholinephosphotransferase 2 (EC 2.7.8.27) (Sphingomyelin synthase 2)
length: 365
go: ENSG00000164023;
snps: rs17038204
sequence:

opentargets:
Golgi apparatus [GO:0005794]; integral component of endoplasmic reticulum membrane [GO:0030176]; integral component of Golgi membrane [GO:0030173]; integral component of plasma membrane [GO:0005887]; plasma membrane [GO:0005886]; ceramide cholinephosphotransferase activity [GO:0047493]; ceramide phosphoethanolamine synthase activity [GO:0002950]; kinase activity [GO:0016301]; sphingomyelin synthase activity [GO:0033188]; ceramide biosynthetic process [GO:0046513]; ceramide phosphoethanolamine biosynthetic process [GO:1905373]; sphingolipid biosynthetic process [GO:0030148]; sphingomyelin biosynthetic process [GO:0006686]

location:
SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein. Golgi apparatus membrane; Multi-pass membrane protein. Note=Predominantly plasma membrane, some in Golgi apparatus. Some localization in the perinuclear region where it colocalizes with a sialyltransferase.


uniprotID: A8MU46
geneSymbol: SMTNL1
name: Smoothelin-like protein 1
length: 457
go: ENSG00000214872;
sequence:

opentargets:
contractile fiber [GO:0043292]; cytoplasm [GO:0005737]; filamentous actin [GO:0031941]; I band [GO:0031674]; M band [GO:0031430]; microtubule organizing center [GO:0005815]; nucleus [GO:0005634]; calmodulin binding [GO:0005516]; protein phosphatase 1 binding [GO:0008157]; tropomyosin binding [GO:0005523]; actin cytoskeleton organization [GO:0030036]; negative regulation of blood vessel diameter [GO:0097756]; positive regulation of vasoconstriction [GO:0045907]

location:
SUBCELLULAR LOCATION: Cytoplasm, myofibril {ECO:0000269|PubMed:18310078}. Cytoplasm, myofibril, sarcomere, I band {ECO:0000250}. Cytoplasm, myofibril, sarcomere, M line {ECO:0000250}. Nucleus {ECO:0000250}. Note=Colocalizes with MYH2. In its unphosphorylated state, localizes to the cytoplasm (By similarity). Phosphorylation at Ser-301 promotes translocation to the nucleus (By similarity). {ECO:0000250}.


uniprotID: Q9BSW7
geneSymbol: SYT17
pdb: 2ENP;
name: Synaptotagmin-17 (Protein B/K) (Synaptotagmin XVII) (SytXVII)
length: 474
go: ENSG00000103528;
location: SUBCELLULAR LOCATION: Membrane {ECO:0000250}; Peripheral membrane protein {ECO:0000250}.
sequence:

opentargets:
exocytic vesicle [GO:0070382]; plasma membrane [GO:0005886]; presynapse [GO:0098793]; trans-Golgi network [GO:0005802]; 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]; calcium ion-regulated exocytosis of neurotransmitter [GO:0048791]; cellular response to calcium ion [GO:0071277]; positive regulation of dendrite extension [GO:1903861]; regulation of dopamine secretion [GO:0014059]; synaptic vesicle endocytosis [GO:0048488]; synaptic vesicle exocytosis [GO:0016079]; vesicle-mediated transport [GO:0016192]


uniprotID: Q2TAY7
geneSymbol: SMU1
pdb: 5O9Z;
length: 513
go: ENSG00000122692;
name:
WD40 repeat-containing protein SMU1 (Smu-1 suppressor of mec-8 and unc-52 protein homolog) [Cleaved into: WD40 repeat-containing protein SMU1, N-terminally processed]

sequence:

opentargets:
cytoplasm [GO:0005737]; nuclear speck [GO:0016607]; nucleus [GO:0005634]; U2-type precatalytic spliceosome [GO:0071005]; mRNA splicing, via spliceosome [GO:0000398]; regulation of alternative mRNA splicing, via spliceosome [GO:0000381]; RNA splicing [GO:0008380]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q2TAY7-1; Sequence=Displayed; Name=2; IsoId=Q2TAY7-2; Sequence=VSP_056394; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250|UniProtKB:Q99M63}. Nucleus {ECO:0000269|PubMed:24945353, ECO:0000269|PubMed:28781166}. Nucleus speckle {ECO:0000250|UniProtKB:Q76B40}. Note=Colocalizes with SRSF1 in nuclear speckles. {ECO:0000250|UniProtKB:Q76B40}.


uniprotID: Q8NB12
geneSymbol: SMYD1
name: Histone-lysine N-methyltransferase SMYD1 (EC 2.1.1.43) (SET and MYND domain-containing protein 1)
length: 490
go: ENSG00000115593;
snps: rs1542087
location: SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250}. Nucleus {ECO:0000250}.
sequence:

opentargets:
cytoplasm [GO:0005737]; nucleus [GO:0005634]; DNA binding [GO:0003677]; histone-lysine N-methyltransferase activity [GO:0018024]; metal ion binding [GO:0046872]; transcription corepressor activity [GO:0003714]; chromatin remodeling [GO:0006338]; heart development [GO:0007507]; negative regulation of transcription, DNA-templated [GO:0045892]; positive regulation of myoblast differentiation [GO:0045663]; positive regulation of myotube differentiation [GO:0010831]; skeletal muscle cell differentiation [GO:0035914]


uniprotID: Q9NRG4
geneSymbol: SMYD2
reactome: R-HSA-3214841;R-HSA-6804760;
length: 433
go: ENSG00000143499;
snps: rs1134647 rs11120301
location: SUBCELLULAR LOCATION: Cytoplasm, cytosol {ECO:0000250}. Nucleus {ECO:0000250}.
pdb:
3RIB;3S7B;3S7D;3S7F;3S7J;3TG4;3TG5;4O6F;4WUY;4YND;5ARF;5ARG;5KJK;5KJL;5KJM;5KJN;5V3H;5WCG;6CBX;6CBY;

name:
N-lysine methyltransferase SMYD2 (EC 2.1.1.-) (HSKM-B) (Histone methyltransferase SMYD2) (EC 2.1.1.43) (Lysine N-methyltransferase 3C) (SET and MYND domain-containing protein 2)

sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; histone methyltransferase activity (H3-K36 specific) [GO:0046975]; histone-lysine N-methyltransferase activity [GO:0018024]; lysine N-methyltransferase activity [GO:0016278]; metal ion binding [GO:0046872]; p53 binding [GO:0002039]; protein-lysine N-methyltransferase activity [GO:0016279]; RNA polymerase II complex binding [GO:0000993]; heart development [GO:0007507]; negative regulation of cell proliferation [GO:0008285]; negative regulation of transcription by RNA polymerase II [GO:0000122]; peptidyl-lysine dimethylation [GO:0018027]; peptidyl-lysine monomethylation [GO:0018026]; regulation of DNA damage response, signal transduction by p53 class mediator [GO:0043516]; regulation of signal transduction by p53 class mediator [GO:1901796]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9NRG4-1; Sequence=Displayed; Name=2; IsoId=Q9NRG4-2; Sequence=VSP_056005; Note=No experimental confirmation available.; 


uniprotID: Q8N9I0
geneSymbol: SYT2
reactome: R-HSA-5250958;R-HSA-6794361;R-HSA-8856825;R-HSA-8856828;
name: Synaptotagmin-2 (Synaptotagmin II) (SytII)
length: 419
go: ENSG00000143858;
drug: DB00042;
snps: rs587777781 rs587777782
sequence:

opentargets:
axon [GO:0030424]; cell junction [GO:0030054]; chromaffin granule membrane [GO:0042584]; clathrin-coated vesicle membrane [GO:0030665]; dense core granule [GO:0031045]; exocytic vesicle [GO:0070382]; integral component of membrane [GO:0016021]; plasma membrane [GO:0005886]; synaptic vesicle membrane [GO:0030672]; calcium ion binding [GO:0005509]; calcium-dependent phospholipid binding [GO:0005544]; clathrin binding [GO:0030276]; inositol 1,3,4,5 tetrakisphosphate binding [GO:0043533]; phosphatidylserine binding [GO:0001786]; SNARE binding [GO:0000149]; syntaxin binding [GO:0019905]; calcium ion regulated exocytosis [GO:0017156]; calcium ion-regulated exocytosis of neurotransmitter [GO:0048791]; cellular response to calcium ion [GO:0071277]; membrane organization [GO:0061024]; positive regulation of dendrite extension [GO:1903861]; regulation of dopamine secretion [GO:0014059]; synaptic vesicle endocytosis [GO:0048488]; synaptic vesicle exocytosis [GO:0016079]; vesicle-mediated transport [GO:0016192]

location:
SUBCELLULAR LOCATION: Cytoplasmic vesicle, secretory vesicle, synaptic vesicle membrane {ECO:0000250}; Single-pass membrane protein {ECO:0000250}. Cytoplasmic vesicle, secretory vesicle, chromaffin granule membrane {ECO:0000250}; Single-pass membrane protein {ECO:0000250}. Note=Synaptic vesicles and chromaffin granules. {ECO:0000250}.


uniprotID: Q99747
geneSymbol: NAPG
reactome: R-HSA-204005;R-HSA-6807878;R-HSA-6811434;R-HSA-6811438;R-HSA-6811440;
length: 312
go: ENSG00000134265;
snps: rs2228300 rs2305370
location: SUBCELLULAR LOCATION: Membrane {ECO:0000250}; Peripheral membrane protein {ECO:0000250}.
name:
Gamma-soluble NSF attachment protein (SNAP-gamma) (N-ethylmaleimide-sensitive factor attachment protein gamma)

sequence:

opentargets:
extracellular exosome [GO:0070062]; lysosomal membrane [GO:0005765]; mitochondrion [GO:0005739]; myelin sheath [GO:0043209]; SNARE complex [GO:0031201]; synapse [GO:0045202]; vacuolar membrane [GO:0005774]; soluble NSF attachment protein activity [GO:0005483]; syntaxin binding [GO:0019905]; intra-Golgi vesicle-mediated transport [GO:0006891]; intracellular protein transport [GO:0006886]; membrane fusion [GO:0061025]; protein stabilization [GO:0050821]; protein-containing complex assembly [GO:0065003]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q99747-1; Sequence=Displayed; Name=2; IsoId=Q99747-2; Sequence=VSP_056355; Note=No experimental confirmation available.; 


uniprotID: O95863
geneSymbol: SNAI1
reactome: R-HSA-8943724;
pdb: 2Y48;3W5K;4QLI;
name: Zinc finger protein SNAI1 (Protein snail homolog 1) (Protein sna)
length: 264
go: ENSG00000124216;
snps: rs34261470 rs4647958
sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; pericentric heterochromatin [GO:0005721]; 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]; kinase binding [GO:0019900]; 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]; aortic valve morphogenesis [GO:0003180]; cartilage morphogenesis [GO:0060536]; cell migration [GO:0016477]; epithelial to mesenchymal transition [GO:0001837]; epithelial to mesenchymal transition involved in endocardial cushion formation [GO:0003198]; hair follicle morphogenesis [GO:0031069]; heterochromatin organization [GO:0070828]; left/right pattern formation [GO:0060972]; mesoderm formation [GO:0001707]; negative regulation of cell differentiation involved in embryonic placenta development [GO:0060806]; negative regulation of DNA damage response, signal transduction by p53 class mediator [GO:0043518]; negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage [GO:1902230]; negative regulation of transcription by RNA polymerase II [GO:0000122]; negative regulation of vitamin D biosynthetic process [GO:0010957]; Notch signaling involved in heart development [GO:0061314]; osteoblast differentiation [GO:0001649]; positive regulation of cell migration [GO:0030335]; positive regulation of epithelial to mesenchymal transition [GO:0010718]; positive regulation of transcription, DNA-templated [GO:0045893]; regulation of bicellular tight junction assembly [GO:2000810]; roof of mouth development [GO:0060021]; trophoblast giant cell differentiation [GO:0060707]

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:24699649, ECO:0000269|PubMed:25893292}. Cytoplasm. Note=Once phosphorylated (probably on Ser-107, Ser-111, Ser-115 and Ser-119) it is exported from the nucleus to the cytoplasm where subsequent phosphorylation of the destruction motif and ubiquitination involving BTRC occurs.


uniprotID: O00445
geneSymbol: SYT5
reactome: R-HSA-422356;
pdb: 5H4Y;5H4Z;
name: Synaptotagmin-5 (Synaptotagmin V) (SytV)
length: 386
go: ENSG00000129990;
snps: rs2301279 rs11542503
sequence:

opentargets:
axon [GO:0030424]; cell junction [GO:0030054]; dense core granule [GO:0031045]; exocytic vesicle [GO:0070382]; integral component of neuronal dense core vesicle membrane [GO:0099066]; neuronal cell body [GO:0043025]; perinuclear region of cytoplasm [GO:0048471]; plasma membrane [GO:0005886]; proximal neuron projection [GO:1990769]; recycling endosome membrane [GO:0055038]; synaptic vesicle membrane [GO:0030672]; calcium ion binding [GO:0005509]; calcium-dependent phospholipid binding [GO:0005544]; clathrin binding [GO:0030276]; phosphatidylinositol-4,5-bisphosphate binding [GO:0005546]; phosphatidylserine binding [GO:0001786]; protein heterodimerization activity [GO:0046982]; SNARE binding [GO:0000149]; syntaxin binding [GO:0019905]; calcium ion regulated exocytosis [GO:0017156]; calcium ion-regulated exocytosis of neurotransmitter [GO:0048791]; cellular response to calcium ion [GO:0071277]; chemical synaptic transmission [GO:0007268]; regulation of calcium ion-dependent exocytosis [GO:0017158]; regulation of dopamine secretion [GO:0014059]; synaptic vesicle endocytosis [GO:0048488]; synaptic vesicle exocytosis [GO:0016079]; vesicle-mediated transport [GO:0016192]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=O00445-1; Sequence=Displayed; Name=2; IsoId=O00445-2; Sequence=VSP_057177, VSP_057178; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasmic vesicle, secretory vesicle, synaptic vesicle membrane {ECO:0000250}; Single-pass membrane protein {ECO:0000250}. Recycling endosome membrane {ECO:0000250}; Single-pass membrane protein {ECO:0000250}. Note=In mast cells, localizes to the endocytic recycling compartment. {ECO:0000250}.


uniprotID: Q3KNW1
geneSymbol: SNAI3
name: Zinc finger protein SNAI3 (Protein snail homolog 3) (Zinc finger protein 293)
length: 292
go: ENSG00000185669;
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000250}.
sequence:

opentargets:
nucleus [GO:0005634]; transcription factor complex [GO:0005667]; copper ion binding [GO:0005507]; 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]; RNA polymerase II proximal promoter sequence-specific DNA binding [GO:0000978]; transcription factor activity, RNA polymerase II proximal promoter sequence-specific DNA binding [GO:0000982]; regulation of transcription, DNA-templated [GO:0006355]


uniprotID: Q16613
geneSymbol: AANAT
reactome: R-HSA-209931;
length: 207
go: ENSG00000129673;
drug: DB03341;DB02931;DB01777;
snps: rs34470791 rs28936679
location: SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:11313340}.
name:
Serotonin N-acetyltransferase (Serotonin acetylase) (EC 2.3.1.87) (Aralkylamine N-acetyltransferase) (AA-NAT)

sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; perinuclear region of cytoplasm [GO:0048471]; 14-3-3 protein binding [GO:0071889]; aralkylamine N-acetyltransferase activity [GO:0004059]; arylamine N-acetyltransferase activity [GO:0004060]; cellular response to cAMP [GO:0071320]; circadian rhythm [GO:0007623]; indolalkylamine biosynthetic process [GO:0046219]; melatonin biosynthetic process [GO:0030187]; N-terminal protein amino acid acetylation [GO:0006474]; photoperiodism [GO:0009648]; response to calcium ion [GO:0051592]; response to copper ion [GO:0046688]; response to corticosterone [GO:0051412]; response to cytokine [GO:0034097]; response to insulin [GO:0032868]; response to light stimulus [GO:0009416]; response to prostaglandin E [GO:0034695]; response to zinc ion [GO:0010043]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q16613-1; Sequence=Displayed; Name=2; IsoId=Q16613-2; Sequence=VSP_054108; Note=No experimental confirmation available.; 


uniprotID: P26639
geneSymbol: TARS
reactome: R-HSA-379716;
pdb: 1WWT;4HWT;4P3N;4TTV;
name: Threonine--tRNA ligase, cytoplasmic (EC 6.1.1.3) (Threonyl-tRNA synthetase) (ThrRS)
length: 723
go: ENSG00000113407;
drug: DB00156;
snps: rs34334786
location: SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250|UniProtKB:Q9D0R2}.
sequence:

opentargets:
actin cytoskeleton [GO:0015629]; cytoplasm [GO:0005737]; cytosol [GO:0005829]; extracellular exosome [GO:0070062]; ATP binding [GO:0005524]; protein homodimerization activity [GO:0042803]; threonine-tRNA ligase activity [GO:0004829]; tRNA binding [GO:0000049]; threonyl-tRNA aminoacylation [GO:0006435]; translation [GO:0006412]; tRNA aminoacylation for protein translation [GO:0006418]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P26639-1; Sequence=Displayed; Name=2; IsoId=P26639-2; Sequence=VSP_045114; 


uniprotID: Q7KZF4
geneSymbol: SND1
reactome: R-HSA-6802952;
pdb: 2E6N;2HQE;2HQX;2O4X;3BDL;3OMC;3OMG;4QMG;5M9O;
length: 910
go: ENSG00000197157;
name:
Staphylococcal nuclease domain-containing protein 1 (EC 3.1.31.1) (100 kDa coactivator) (EBNA2 coactivator p100) (Tudor domain-containing protein 11) (p100 co-activator)

sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; dense body [GO:0097433]; extracellular exosome [GO:0070062]; melanosome [GO:0042470]; membrane [GO:0016020]; nucleus [GO:0005634]; RISC complex [GO:0016442]; cadherin binding [GO:0045296]; endonuclease activity [GO:0004519]; endoribonuclease activity [GO:0004521]; nuclease activity [GO:0004518]; RISC complex binding [GO:1905172]; RNA binding [GO:0003723]; transcription coregulator activity [GO:0003712]; gene silencing by RNA [GO:0031047]; miRNA catabolic process [GO:0010587]; osteoblast differentiation [GO:0001649]; regulation of cell cycle process [GO:0010564]; RNA catabolic process [GO:0006401]; viral process [GO:0016032]

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:14508492, ECO:0000269|PubMed:17081065}. Nucleus {ECO:0000269|PubMed:12234934, ECO:0000269|PubMed:14508492, ECO:0000269|PubMed:17081065, ECO:0000269|PubMed:7651391}. Melanosome {ECO:0000269|PubMed:17081065}. Note=In IL-4 stimulated cells colocalizes with STAT6 in the nucleus (PubMed:12234934). Identified by mass spectrometry in melanosome fractions from stage I to stage IV (PubMed:17081065). {ECO:0000269|PubMed:12234934, ECO:0000269|PubMed:17081065}.


uniprotID: Q8IYJ3
geneSymbol: SYTL1
reactome: R-HSA-8854214;
name: Synaptotagmin-like protein 1 (Exophilin-7) (Protein JFC1)
length: 562
go: ENSG00000142765;
sequence:

opentargets:
exocytic vesicle [GO:0070382]; extracellular exosome [GO:0070062]; extrinsic component of plasma membrane [GO:0019897]; melanosome [GO:0042470]; microvillus membrane [GO:0031528]; plasma membrane [GO:0005886]; neurexin family protein binding [GO:0042043]; Rab GTPase binding [GO:0017137]; exocytosis [GO:0006887]; intracellular protein transport [GO:0006886]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q8IYJ3-1; Sequence=Displayed; Name=2; IsoId=Q8IYJ3-2; Sequence=VSP_007883; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:11278853, ECO:0000269|PubMed:18266782}; Peripheral membrane protein {ECO:0000269|PubMed:11278853, ECO:0000269|PubMed:18266782}; Cytoplasmic side {ECO:0000269|PubMed:11278853, ECO:0000269|PubMed:18266782}. Note=Peripheral membrane protein tightly bound to the cytoplasmic side of cellular membranes.


uniprotID: Q4VX76
geneSymbol: SYTL3
name: Synaptotagmin-like protein 3 (Exophilin-6)
length: 610
go: ENSG00000164674;
snps: rs901363 rs2291388 rs3123101
location: SUBCELLULAR LOCATION: Endomembrane system {ECO:0000250}; Peripheral membrane protein {ECO:0000250}.
sequence:

opentargets:
exocytic vesicle [GO:0070382]; extrinsic component of plasma membrane [GO:0019897]; calcium-dependent phospholipid binding [GO:0005544]; neurexin family protein binding [GO:0042043]; Rab GTPase binding [GO:0017137]; exocytosis [GO:0006887]; intracellular protein transport [GO:0006886]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q4VX76-1; Sequence=Displayed; Name=2; IsoId=Q4VX76-2; Sequence=VSP_029403; 


uniprotID: Q8TDW5
geneSymbol: SYTL5
name: Synaptotagmin-like protein 5
length: 730
go: ENSG00000147041;
snps: rs4827331 rs57226394
location: SUBCELLULAR LOCATION: Membrane {ECO:0000250}; Peripheral membrane protein {ECO:0000250}.
sequence:

opentargets:
exocytic vesicle [GO:0070382]; membrane [GO:0016020]; metal ion binding [GO:0046872]; phospholipid binding [GO:0005543]; Rab GTPase binding [GO:0017137]; exocytosis [GO:0006887]; intracellular protein transport [GO:0006886]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q8TDW5-1; Sequence=Displayed; Name=2; IsoId=Q8TDW5-2; Sequence=VSP_042659; Note=No experimental confirmation available.; 


uniprotID: O00161
geneSymbol: SNAP23
reactome: R-HSA-1236974;R-HSA-1445148;R-HSA-421837;R-HSA-6798695;
pdb: 1NHL;3ZUS;
name: Synaptosomal-associated protein 23 (SNAP-23) (Vesicle-membrane fusion protein SNAP-23)
length: 211
go: ENSG00000092531;
sequence:

opentargets:
azurophil granule [GO:0042582]; cell-cell adherens junction [GO:0005913]; cytoplasm [GO:0005737]; extracellular exosome [GO:0070062]; focal adhesion [GO:0005925]; mast cell granule [GO:0042629]; neuron projection [GO:0043005]; nucleoplasm [GO:0005654]; phagocytic vesicle membrane [GO:0030670]; plasma membrane [GO:0005886]; presynapse [GO:0098793]; SNARE complex [GO:0031201]; specific granule [GO:0042581]; specific granule membrane [GO:0035579]; tertiary granule membrane [GO:0070821]; SNAP receptor activity [GO:0005484]; syntaxin binding [GO:0019905]; antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent [GO:0002479]; exocytosis [GO:0006887]; histamine secretion by mast cell [GO:0002553]; membrane fusion [GO:0061025]; neutrophil degranulation [GO:0043312]; post-Golgi vesicle-mediated transport [GO:0006892]; protein transport [GO:0015031]; synaptic vesicle fusion to presynaptic active zone membrane [GO:0031629]; synaptic vesicle priming [GO:0016082]; vesicle fusion [GO:0006906]; vesicle targeting [GO:0006903]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=SNAP-23a; IsoId=O00161-1; Sequence=Displayed; Name=SNAP-23b; IsoId=O00161-2; Sequence=VSP_006187, VSP_006188; 

location:
SUBCELLULAR LOCATION: Cell membrane; Peripheral membrane protein. Cell membrane; Lipid-anchor. Cell junction, synapse, synaptosome. Note=Mainly localized to the plasma membrane.


uniprotID: Q96DI7
geneSymbol: SNRNP40
reactome: R-HSA-72163;R-HSA-72165;
pdb: 3JCR;5MQF;5O9Z;5XJC;5YZG;5Z56;5Z57;5Z58;
length: 357
go: ENSG00000060688;
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:9731529}.
name:
U5 small nuclear ribonucleoprotein 40 kDa protein (U5 snRNP 40 kDa protein) (U5-40K) (38 kDa-splicing factor) (Prp8-binding protein) (hPRP8BP) (U5 snRNP-specific 40 kDa protein) (WD repeat-containing protein 57)

sequence:

opentargets:
catalytic step 2 spliceosome [GO:0071013]; cytosol [GO:0005829]; nuclear speck [GO:0016607]; nucleoplasm [GO:0005654]; small nucleolar ribonucleoprotein complex [GO:0005732]; U2-type catalytic step 2 spliceosome [GO:0071007]; U5 snRNP [GO:0005682]; RNA binding [GO:0003723]; mRNA splicing, via spliceosome [GO:0000398]; RNA processing [GO:0006396]; RNA splicing [GO:0008380]; RNA splicing, via transesterification reactions [GO:0000375]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q96DI7-1; Sequence=Displayed; Name=2; IsoId=Q96DI7-2; Sequence=VSP_056395; Note=No experimental confirmation available.; 


uniprotID: O95721
geneSymbol: SNAP29
reactome: R-HSA-6798695;R-HSA-6811438;
pdb: 4WY4;
length: 258
go: ENSG00000099940;
name:
Synaptosomal-associated protein 29 (SNAP-29) (Soluble 29 kDa NSF attachment protein) (Vesicle-membrane fusion protein SNAP-29)

sequence:

opentargets:
autophagosome [GO:0005776]; autophagosome membrane [GO:0000421]; azurophil granule membrane [GO:0035577]; centrosome [GO:0005813]; ciliary pocket membrane [GO:0020018]; cytoplasm [GO:0005737]; cytosol [GO:0005829]; Golgi membrane [GO:0000139]; nucleoplasm [GO:0005654]; plasma membrane [GO:0005886]; presynapse [GO:0098793]; SNARE complex [GO:0031201]; SNAP receptor activity [GO:0005484]; syntaxin binding [GO:0019905]; autophagosome maturation [GO:0097352]; autophagosome membrane docking [GO:0016240]; cilium assembly [GO:0060271]; exocytosis [GO:0006887]; membrane fusion [GO:0061025]; neutrophil degranulation [GO:0043312]; protein transport [GO:0015031]; synaptic vesicle fusion to presynaptic active zone membrane [GO:0031629]; synaptic vesicle priming [GO:0016082]; vesicle fusion [GO:0006906]; vesicle targeting [GO:0006903]

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:23217709}. Golgi apparatus membrane {ECO:0000250|UniProtKB:Q9Z2P6}; Peripheral membrane protein {ECO:0000305}. Cytoplasmic vesicle, autophagosome membrane {ECO:0000269|PubMed:25686604}; Peripheral membrane protein {ECO:0000305}. Cell projection, cilium membrane {ECO:0000269|PubMed:25686250}; Peripheral membrane protein {ECO:0000305}. Note=Appears to be mostly membrane-bound, probably via interaction with syntaxins, but a significant portion is cytoplasmic. Localizes to the ciliary pocket from where the cilium protrudes. {ECO:0000269|PubMed:23217709, ECO:0000269|PubMed:25686250}.


uniprotID: Q9NRH2
geneSymbol: SNRK
pdb: 5YKS;
name: SNF-related serine/threonine-protein kinase (EC 2.7.11.1) (SNF1-related kinase)
length: 765
go: ENSG00000163788;
snps: rs35624204 rs56104180 rs368877591
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000250}.
sequence:

opentargets:
cytoplasm [GO:0005737]; nucleus [GO:0005634]; ATP binding [GO:0005524]; magnesium ion binding [GO:0000287]; protein serine/threonine kinase activity [GO:0004674]; intracellular signal transduction [GO:0035556]; myeloid cell differentiation [GO:0030099]; protein phosphorylation [GO:0006468]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1 {ECO:0000269|PubMed:12234663, ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:7788527}; IsoId=Q9NRH2-1; Sequence=Displayed; Name=2 {ECO:0000269|PubMed:14702039}; IsoId=Q9NRH2-2; Sequence=VSP_051959, VSP_051960; Note=No experimental confirmation available. {ECO:0000305}; 


uniprotID: P09012
geneSymbol: SNRPA
reactome: R-HSA-72163;
name: U1 small nuclear ribonucleoprotein A (U1 snRNP A) (U1-A) (U1A)
length: 282
go: ENSG00000077312;
drug: DB02175;
location: SUBCELLULAR LOCATION: Nucleus.
pdb:
1AUD;1DRZ;1DZ5;1FHT;1M5K;1M5O;1M5P;1M5V;1NU4;1OIA;1SJ3;1SJ4;1SJF;1U6B;1URN;1VBX;1VBY;1VBZ;1VC0;1VC5;1VC6;1ZZN;2A3J;2NZ4;2OIH;2OJ3;2U1A;3BO2;3BO3;3BO4;3CUL;3CUN;3EGZ;3G8S;3G8T;3G96;3G9C;3HHN;3IIN;3IRW;3IWN;3K0J;3L3C;3MUM;3MUR;3MUT;3MUV;3MXH;3P49;3PGW;3R1H;3R1L;3UCU;3UCZ;3UD3;3UD4;3UTR;4C4W;4PR6;4PRF;4W90;4W92;4YB1;5DDO;5DDP;5DDQ;5DDR;5FJ4;

sequence:

opentargets:
nucleoplasm [GO:0005654]; spliceosomal complex [GO:0005681]; U1 snRNP [GO:0005685]; identical protein binding [GO:0042802]; RNA binding [GO:0003723]; snRNA stem-loop binding [GO:0035614]; U1 snRNA binding [GO:0030619]; U1 snRNP binding [GO:1990446]; mRNA splicing, via spliceosome [GO:0000398]; regulation of mRNA polyadenylation [GO:1900363]


uniprotID: Q92966
geneSymbol: SNAPC3
reactome: R-HSA-6807505;R-HSA-749476;R-HSA-76071;
length: 411
go: ENSG00000164975;
snps: rs3087653
location: SUBCELLULAR LOCATION: Nucleus.
name:
snRNA-activating protein complex subunit 3 (SNAPc subunit 3) (Proximal sequence element-binding transcription factor subunit beta) (PSE-binding factor subunit beta) (PTF subunit beta) (Small nuclear RNA-activating complex polypeptide 3) (snRNA-activating protein complex 50 kDa subunit) (SNAPc 50 kDa subunit)

sequence:

opentargets:
nuclear body [GO:0016604]; nucleolus [GO:0005730]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; DNA binding [GO:0003677]; 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: Q13884
geneSymbol: SNTB1
length: 538
go: ENSG00000172164;
name:
Beta-1-syntrophin (59 kDa dystrophin-associated protein A1 basic component 1) (DAPA1B) (BSYN2) (Syntrophin-2) (Tax interaction protein 43) (TIP-43)

sequence:

opentargets:
cytoplasm [GO:0005737]; cytoskeleton [GO:0005856]; dystrophin-associated glycoprotein complex [GO:0016010]; focal adhesion [GO:0005925]; intracellular [GO:0005622]; protein-containing complex [GO:0032991]; sarcolemma [GO:0042383]; synapse [GO:0045202]; actin binding [GO:0003779]; calmodulin binding [GO:0005516]; PDZ domain binding [GO:0030165]; structural molecule activity [GO:0005198]; muscle contraction [GO:0006936]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q13884-1; Sequence=Displayed; Name=2; IsoId=Q13884-2; Sequence=VSP_006354, VSP_006355; 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: Q13573
geneSymbol: SNW1
pdb: 5MQF;5XJC;5YZG;6FF4;
length: 536
go: ENSG00000100603;
reactome:
R-HSA-1912408;R-HSA-210744;R-HSA-2122947;R-HSA-2173796;R-HSA-2644606;R-HSA-2894862;R-HSA-350054;R-HSA-72163;R-HSA-8941856;R-HSA-9013508;R-HSA-9013695;

name:
SNW domain-containing protein 1 (Nuclear protein SkiP) (Nuclear receptor coactivator NCoA-62) (Ski-interacting protein)

sequence:

opentargets:
catalytic step 2 spliceosome [GO:0071013]; nuclear body [GO:0016604]; nuclear matrix [GO:0016363]; nuclear speck [GO:0016607]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; spliceosomal complex [GO:0005681]; U2-type catalytic step 2 spliceosome [GO:0071007]; androgen receptor binding [GO:0050681]; enzyme binding [GO:0019899]; Notch binding [GO:0005112]; nuclear hormone receptor binding [GO:0035257]; retinoic acid receptor binding [GO:0042974]; RNA binding [GO:0003723]; SMAD binding [GO:0046332]; transcription coactivator activity [GO:0003713]; transcription corepressor activity [GO:0003714]; vitamin D receptor binding [GO:0042809]; cellular response to retinoic acid [GO:0071300]; intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator [GO:0042771]; mRNA splicing, via spliceosome [GO:0000398]; negative regulation of transcription by RNA polymerase II [GO:0000122]; negative regulation of transcription, DNA-templated [GO:0045892]; Notch signaling pathway [GO:0007219]; positive regulation by host of viral transcription [GO:0043923]; positive regulation of histone H3-K4 methylation [GO:0051571]; positive regulation of mRNA splicing, via spliceosome [GO:0048026]; positive regulation of neurogenesis [GO:0050769]; positive regulation of Notch signaling pathway [GO:0045747]; positive regulation of transcription by RNA polymerase II [GO:0045944]; positive regulation of transcription of Notch receptor target [GO:0007221]; positive regulation of transforming growth factor beta receptor signaling pathway [GO:0030511]; positive regulation of vitamin D receptor signaling pathway [GO:0070564]; regulation of retinoic acid receptor signaling pathway [GO:0048385]; regulation of transcription by RNA polymerase II [GO:0006357]; regulation of vitamin D receptor signaling pathway [GO:0070562]; retinoic acid receptor signaling pathway [GO:0048384]; transcription initiation from RNA polymerase II promoter [GO:0006367]; viral process [GO:0016032]

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:11991638, ECO:0000269|PubMed:12840015, ECO:0000269|PubMed:28076346, ECO:0000269|PubMed:28502770}.


uniprotID: Q9Y5W7
geneSymbol: SNX14
pdb: 4BGJ;4PQO;4PQP;
name: Sorting nexin-14
length: 946
go: ENSG00000135317;
sequence:

opentargets:
dendrite [GO:0030425]; integral component of membrane [GO:0016021]; late endosome [GO:0005770]; late endosome membrane [GO:0031902]; lysosomal membrane [GO:0005765]; lysosome [GO:0005764]; phosphatidylinositol-3,5-bisphosphate binding [GO:0080025]; autophagosome maturation [GO:0097352]; protein transport [GO:0015031]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=Q9Y5W7-1; Sequence=Displayed; Name=2; IsoId=Q9Y5W7-2; Sequence=VSP_037776, VSP_037777; Name=3; IsoId=Q9Y5W7-3; Sequence=VSP_037775; Name=4; IsoId=Q9Y5W7-4; Sequence=VSP_037777; 

location:
SUBCELLULAR LOCATION: Lysosome membrane {ECO:0000269|PubMed:25848753}; Multi-pass membrane protein {ECO:0000305}. Late endosome membrane {ECO:0000269|PubMed:25848753}; Multi-pass membrane protein {ECO:0000305}. Cell projection, dendrite {ECO:0000250|UniProtKB:Q8BHY8}.


uniprotID: P57768
geneSymbol: SNX16
pdb: 5GW0;5GW1;
name: Sorting nexin-16
length: 344
go: ENSG00000104497;
snps: rs16919654
sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; early endosome [GO:0005769]; early endosome membrane [GO:0031901]; extrinsic component of endosome membrane [GO:0031313]; intracellular membrane-bounded organelle [GO:0043231]; late endosome [GO:0005770]; late endosome membrane [GO:0031902]; lysosome [GO:0005764]; plasma membrane [GO:0005886]; identical protein binding [GO:0042802]; phosphatidylinositol binding [GO:0035091]; early endosome to late endosome transport [GO:0045022]; endosome to lysosome transport [GO:0008333]; negative regulation of ATPase activity [GO:0032780]; negative regulation of ion transport [GO:0043271]; protein targeting to lysosome [GO:0006622]; regulation of membrane potential [GO:0042391]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P57768-1; Sequence=Displayed; Name=2; IsoId=P57768-2; Sequence=VSP_042944; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Early endosome membrane; Peripheral membrane protein; Cytoplasmic side. Late endosome membrane; Peripheral membrane protein; Cytoplasmic side. Cytoplasm {ECO:0000250}. Lysosome {ECO:0000250}.


uniprotID: Q8N9S9
geneSymbol: SNX31
name: Sorting nexin-31
length: 440
go: ENSG00000174226;
snps: rs2187016 rs2248609 rs2022923
sequence:

opentargets:
early endosome [GO:0005769]; protein-containing complex [GO:0032991]; phosphatidylinositol binding [GO:0035091]; intracellular protein transport [GO:0006886]; retrograde transport, endosome to plasma membrane [GO:1990126]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q8N9S9-1; Sequence=Displayed; Name=2; IsoId=Q8N9S9-2; Sequence=VSP_033261, VSP_033262; Note=No experimental confirmation available.; 


uniprotID: Q8WV41
geneSymbol: SNX33
pdb: 4AKV;
name: Sorting nexin-33 (SH3 and PX domain-containing protein 3)
length: 574
go: ENSG00000173548;
sequence:

opentargets:
cytoplasmic vesicle [GO:0031410]; cytoplasmic vesicle membrane [GO:0030659]; cytosol [GO:0005829]; extrinsic component of membrane [GO:0019898]; membrane [GO:0016020]; identical protein binding [GO:0042802]; phosphatidylinositol binding [GO:0035091]; cleavage furrow formation [GO:0036089]; endocytosis [GO:0006897]; endosomal transport [GO:0016197]; endosome organization [GO:0007032]; intracellular protein transport [GO:0006886]; macropinocytosis [GO:0044351]; mitotic cytokinesis [GO:0000281]; negative regulation of endocytosis [GO:0045806]; negative regulation of protein localization to cell surface [GO:2000009]; plasma membrane tubulation [GO:0097320]; positive regulation of membrane protein ectodomain proteolysis [GO:0051044]; positive regulation of protein localization to cell surface [GO:2000010]; protein import [GO:0017038]

location:
SUBCELLULAR LOCATION: Cytoplasm, cytosol. Membrane; Peripheral membrane protein; Cytoplasmic side. Cytoplasmic vesicle membrane; Peripheral membrane protein; Cytoplasmic side. Note=Primarily cytosolic, but a minor proportion is membrane-bound (PubMed:18353773). Not associated with membranes (PubMed:21048941). {ECO:0000269|PubMed:18353773, ECO:0000269|PubMed:21048941}.


uniprotID: Q13596
geneSymbol: SNX1
pdb: 2I4K;4FZS;
name: Sorting nexin-1
length: 522
go: ENSG00000028528;
snps: rs1049501 rs1802376
sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; early endosome membrane [GO:0031901]; endosome [GO:0005768]; endosome membrane [GO:0010008]; Golgi apparatus [GO:0005794]; intracellular membrane-bounded organelle [GO:0043231]; lamellipodium [GO:0030027]; lysosome [GO:0005764]; membrane [GO:0016020]; protein-containing complex [GO:0032991]; retromer complex [GO:0030904]; retromer, tubulation complex [GO:0030905]; vesicle [GO:0031982]; cadherin binding [GO:0045296]; epidermal growth factor receptor binding [GO:0005154]; identical protein binding [GO:0042802]; 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]; intracellular protein transport [GO:0006886]; lamellipodium morphogenesis [GO:0072673]; positive regulation of protein catabolic process [GO:0045732]; receptor internalization [GO:0031623]; retrograde transport, endosome to Golgi [GO:0042147]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q13596-1; Sequence=Displayed; Name=1A; IsoId=Q13596-2; Sequence=VSP_006189; Name=3; IsoId=Q13596-3; Sequence=VSP_044823; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Endosome membrane {ECO:0000269|PubMed:15498486, ECO:0000269|PubMed:18088323, ECO:0000269|PubMed:22431521}; Peripheral membrane protein; Cytoplasmic side. Golgi apparatus, trans-Golgi network membrane {ECO:0000305}; Peripheral membrane protein {ECO:0000305}; Cytoplasmic side {ECO:0000305}. Early endosome membrane; Peripheral membrane protein; Cytoplasmic side. Cell projection, lamellipodium {ECO:0000269|PubMed:20604901}. Note=Enriched on tubular elements of the early endosome membrane. Binds preferentially to highly curved membranes enriched in phosphatidylinositol 3-phosphate (PtdIns(3P)) or phosphatidylinositol 3,5-bisphosphate (PtdIns(3,5)P2) (PubMed:15498486). 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). Colocalizes with DNAJC13 and Shiginella dysenteria toxin stxB on early endosomes (PubMed:19874558). Colocalized with F-actin at the leading edge of lamellipodia in a KALRN-dependent manner (PubMed:20604901). {ECO:0000269|PubMed:15498486, ECO:0000269|PubMed:18088323, ECO:0000269|PubMed:20604901}.


uniprotID: Q7Z614
geneSymbol: SNX20
name: Sorting nexin-20 (Selectin ligand-interactor cytoplasmic 1) (SLIC-1)
length: 316
go: ENSG00000167208;
snps: rs1131716
sequence:

opentargets:
early endosome membrane [GO:0031901]; nucleoplasm [GO:0005654]; plasma membrane [GO:0005886]; phosphatidylinositol-3-phosphate binding [GO:0032266]; phosphatidylinositol-4,5-bisphosphate binding [GO:0005546]; protein transport [GO:0015031]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=Q7Z614-1; Sequence=Displayed; Name=2; IsoId=Q7Z614-2; Sequence=VSP_032428; Name=3; IsoId=Q7Z614-3; Sequence=VSP_032425, VSP_032429; Name=4; IsoId=Q7Z614-4; Sequence=VSP_032426, VSP_032427; 

location:
SUBCELLULAR LOCATION: Early endosome membrane {ECO:0000269|PubMed:18196517}; Peripheral membrane protein {ECO:0000269|PubMed:18196517}; Cytoplasmic side {ECO:0000269|PubMed:18196517}. Cell membrane {ECO:0000269|PubMed:18196517}. Cytoplasm {ECO:0000269|PubMed:18196517}. Nucleus {ECO:0000269|PubMed:18196517}.


uniprotID: Q9Y343
geneSymbol: SNX24
pdb: 4AZ9;
name: Sorting nexin-24
length: 169
go: ENSG00000064652;
sequence:
MEVYIPSFRYEESDLERGYTVFKIEVLMNGRKHFVEKRYSEFHALHKKLKKCIKTPEIPSKHVRNWVPKVLEQRRQGLETYLQAVILENEELPKLFLDFLNVRHLPSLPKAESCGSFDETESEESSKLSHQPVLLFLRDPYVLPAASDFPNVVIEGVLHGIFYPHLQPR

opentargets:
cytoplasmic vesicle membrane [GO:0030659]; phosphatidylinositol-3-phosphate binding [GO:0032266]; phosphatidylinositol-4-phosphate binding [GO:0070273]; phosphatidylinositol-5-phosphate binding [GO:0010314]; protein transport [GO:0015031]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9Y343-1; Sequence=Displayed; Name=2; IsoId=Q9Y343-2; Sequence=VSP_012034; 

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


uniprotID: O95219
geneSymbol: SNX4
name: Sorting nexin-4
length: 450
go: ENSG00000114520;
sequence:

opentargets:
cytoplasm [GO:0005737]; cytoplasmic dynein complex [GO:0005868]; early endosome membrane [GO:0031901]; membrane [GO:0016020]; plasma membrane [GO:0005886]; protein-containing complex [GO:0032991]; SNARE complex [GO:0031201]; epidermal growth factor receptor binding [GO:0005154]; insulin receptor binding [GO:0005158]; leptin receptor binding [GO:1990460]; phosphatidylinositol binding [GO:0035091]; transferrin receptor binding [GO:1990459]; endocytic recycling [GO:0032456]; positive regulation of histamine secretion by mast cell [GO:1903595]; protein transport [GO:0015031]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=O95219-1; Sequence=Displayed; Name=2; IsoId=O95219-2; Sequence=VSP_056665; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Early endosome membrane {ECO:0000269|PubMed:17994011}; Peripheral membrane protein {ECO:0000269|PubMed:17994011}; Cytoplasmic side {ECO:0000269|PubMed:17994011}. Note=Also detected on a juxtanuclear endocytic recycling compartment (ERC).


uniprotID: Q9UNH7
geneSymbol: SNX6
name: Sorting nexin-6 (TRAF4-associated factor 2) [Cleaved into: Sorting nexin-6, N-terminally processed]
length: 406
go: ENSG00000129515;
sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; early endosome membrane [GO:0031901]; intracellular [GO:0005622]; nucleus [GO:0005634]; retromer complex [GO:0030904]; retromer, tubulation complex [GO:0030905]; tubular endosome [GO:0097422]; dynactin binding [GO:0034452]; phosphatidylinositol binding [GO:0035091]; protein heterodimerization activity [GO:0046982]; protein homodimerization activity [GO:0042803]; intracellular protein transport [GO:0006886]; negative regulation of epidermal growth factor-activated receptor activity [GO:0007175]; negative regulation of transcription, DNA-templated [GO:0045892]; negative regulation of transforming growth factor beta receptor signaling pathway [GO:0030512]; regulation of macroautophagy [GO:0016241]; retrograde transport, endosome to Golgi [GO:0042147]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9UNH7-1; Sequence=Displayed; Name=2; IsoId=Q9UNH7-2; Sequence=VSP_044824; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Early endosome {ECO:0000269|PubMed:11485546, ECO:0000269|PubMed:17148574, ECO:0000269|PubMed:19935774}. Early endosome membrane {ECO:0000269|PubMed:19935774, ECO:0000303|PubMed:11485546}; Peripheral membrane protein {ECO:0000269|PubMed:11485546}; Cytoplasmic side {ECO:0000305}. Cytoplasmic vesicle {ECO:0000269|PubMed:20354142}. Cytoplasm {ECO:0000269|PubMed:20830743}. Nucleus {ECO:0000269|PubMed:11591366, ECO:0000269|PubMed:20830743}. Note=Interaction with SNX1 or SNX2 promotes location at endosome membranes (PubMed:19935774). Only a minor proportion is seen in the nucleus. {ECO:0000269|PubMed:19935774}.


uniprotID: Q96BD0
geneSymbol: SLCO4A1
reactome: R-HSA-879518;
length: 722
go: ENSG00000101187;
drug: DB01053;DB00286;DB00509;DB00390;DB00917;DB00783;DB00451;DB00279;DB01583;DB04348;
snps: rs34419428 rs1047099
location: SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein.
name:
Solute carrier organic anion transporter family member 4A1 (OATP4A1) (Colon organic anion transporter) (Organic anion transporter polypeptide-related protein 1) (OATP-RP1) (OATPRP1) (POAT) (Organic anion-transporting polypeptide E) (OATP-E) (Sodium-independent organic anion transporter E) (Solute carrier family 21 member 12)

sequence:

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

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Comment=Experimental confirmation may be lacking for some isoforms.; Name=1; IsoId=Q96BD0-1; Sequence=Displayed; Name=2; IsoId=Q96BD0-2; Sequence=VSP_006152, VSP_006156; Name=3; IsoId=Q96BD0-3; Sequence=VSP_006153, VSP_006155; Name=4; IsoId=Q96BD0-4; Sequence=VSP_006154; 


uniprotID: Q9Y5X1
geneSymbol: SNX9
reactome: R-HSA-432722;R-HSA-8856828;
pdb: 2RAI;2RAJ;2RAK;3DYT;3DYU;3LGE;
length: 595
go: ENSG00000130340;
name:
Sorting nexin-9 (SH3 and PX domain-containing protein 1) (Protein SDP1) (SH3 and PX domain-containing protein 3A)

sequence:

opentargets:
clathrin-coated vesicle [GO:0030136]; cytoplasm [GO:0005737]; cytoplasmic vesicle [GO:0031410]; cytoplasmic vesicle membrane [GO:0030659]; cytosol [GO:0005829]; extracellular exosome [GO:0070062]; extrinsic component of cytoplasmic side of plasma membrane [GO:0031234]; plasma membrane [GO:0005886]; ruffle [GO:0001726]; trans-Golgi network [GO:0005802]; 1-phosphatidylinositol binding [GO:0005545]; Arp2/3 complex binding [GO:0071933]; cadherin binding [GO:0045296]; identical protein binding [GO:0042802]; phosphatidylinositol binding [GO:0035091]; protein homodimerization activity [GO:0042803]; ubiquitin protein ligase binding [GO:0031625]; cleavage furrow formation [GO:0036089]; endocytosis [GO:0006897]; endosomal transport [GO:0016197]; intracellular protein transport [GO:0006886]; lipid tube assembly [GO:0060988]; membrane organization [GO:0061024]; mitotic cytokinesis [GO:0000281]; plasma membrane tubulation [GO:0097320]; positive regulation of GTPase activity [GO:0043547]; positive regulation of membrane protein ectodomain proteolysis [GO:0051044]; positive regulation of protein kinase activity [GO:0045860]; positive regulation of protein oligomerization [GO:0032461]; receptor-mediated endocytosis [GO:0006898]

location:
SUBCELLULAR LOCATION: Cytoplasmic vesicle membrane; Peripheral membrane protein; Cytoplasmic side. Cell membrane; Peripheral membrane protein; Cytoplasmic side. Cytoplasmic vesicle, clathrin-coated vesicle. Golgi apparatus, trans-Golgi network. Cell projection, ruffle. Cytoplasm. Note=Localized at sites of endocytosis at the cell membrane. Detected on newly formed macropinosomes. Transiently recruited to clathrin-coated pits at a late stage of clathrin-coated vesicle formation. Colocalizes with the actin cytoskeleton at the cell membrane.


uniprotID: Q86UG4
geneSymbol: SLCO6A1
length: 719
go: ENSG00000205359;
snps: rs13190449 rs17150488 rs10073333 rs10055840
location: SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein.
name:
Solute carrier organic anion transporter family member 6A1 (Cancer/testis antigen 48) (CT48) (Gonad-specific transporter) (GST) (Organic anion-transporting polypeptide 6A1) (Organic anion-transporting polypeptide I) (OATP-I) (Solute carrier family 21 member 19)

sequence:

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

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q86UG4-1; Sequence=Displayed; Name=2; IsoId=Q86UG4-2; Sequence=VSP_028753; Note=No experimental confirmation available.; Name=3; IsoId=Q86UG4-3; Sequence=VSP_028753, VSP_028754; Note=No experimental confirmation available.; 


uniprotID: P35610
geneSymbol: SOAT1
reactome: R-HSA-8964038;
length: 550
go: ENSG00000057252;
drug: DB00973;DB01094;
snps: rs13306731
name:
Sterol O-acyltransferase 1 (EC 2.3.1.26) (Acyl-coenzyme A:cholesterol acyltransferase 1) (ACAT-1) (Cholesterol acyltransferase 1)

sequence:

opentargets:
endoplasmic reticulum [GO:0005783]; endoplasmic reticulum membrane [GO:0005789]; integral component of membrane [GO:0016021]; membrane [GO:0016020]; cholesterol binding [GO:0015485]; cholesterol O-acyltransferase activity [GO:0034736]; fatty-acyl-CoA binding [GO:0000062]; sterol O-acyltransferase activity [GO:0004772]; cholesterol efflux [GO:0033344]; cholesterol esterification [GO:0034435]; cholesterol homeostasis [GO:0042632]; cholesterol metabolic process [GO:0008203]; cholesterol storage [GO:0010878]; low-density lipoprotein particle clearance [GO:0034383]; macrophage derived foam cell differentiation [GO:0010742]; positive regulation of amyloid precursor protein biosynthetic process [GO:0042986]; very-low-density lipoprotein particle assembly [GO:0034379]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=P35610-1; Sequence=Displayed; Name=2; IsoId=P35610-2; Sequence=VSP_045331; Name=3; IsoId=P35610-3; Sequence=VSP_045330; 

location:
SUBCELLULAR LOCATION: Endoplasmic reticulum membrane {ECO:0000269|PubMed:16154994}; Multi-pass membrane protein {ECO:0000269|PubMed:16154994}.


uniprotID: Q3KNW5
geneSymbol: SLC10A6
reactome: R-HSA-425366;
name: Solute carrier family 10 member 6 (Sodium-dependent organic anion transporter)
length: 377
go: ENSG00000145283;
drug: DB05804;DB02789;
snps: rs17694522 rs13106574
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Multi-pass membrane protein {ECO:0000305}.
sequence:

opentargets:
integral component of membrane [GO:0016021]; plasma membrane [GO:0005886]; bile acid:sodium symporter activity [GO:0008508]; sodium-dependent organic anion transmembrane transporter activity [GO:0043250]; bile acid and bile salt transport [GO:0015721]; sodium-dependent organic anion transport [GO:0043251]; transmembrane transport [GO:0055085]


uniprotID: P46721
geneSymbol: SLCO1A2
reactome: R-HSA-159418;R-HSA-879518;
length: 670
go: ENSG00000084453;
snps: rs10841795 rs11568567 rs45502302 rs11568563 rs750165758 rs45628437 rs11568557
location: SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein.
name:
Solute carrier organic anion transporter family member 1A2 (OATP-A) (Organic anion-transporting polypeptide 1) (OATP-1) (Sodium-independent organic anion transporter) (Solute carrier family 21 member 3)

sequence:

opentargets:
integral component of plasma membrane [GO:0005887]; plasma membrane [GO:0005886]; bile acid transmembrane transporter activity [GO:0015125]; organic anion transmembrane transporter activity [GO:0008514]; sodium-independent organic anion transmembrane transporter activity [GO:0015347]; bile acid and bile salt transport [GO:0015721]; organic anion transport [GO:0015711]; sodium-independent organic anion transport [GO:0043252]

drug:
DB04630;DB00345;DB01076;DB00887;DB00291;DB02659;DB00286;DB00091;DB05804;DB03619;DB01234;DB01396;DB00390;DB00917;DB00584;DB00199;DB00783;DB04573;DB00655;DB00950;DB01016;DB02123;DB00741;DB01050;DB00224;DB00328;DB01026;DB01009;DB00451;DB00279;DB01583;DB00227;DB00563;DB06710;DB08893;DB02691;DB01183;DB00788;DB00220;DB01092;DB00175;DB00860;DB00635;DB01032;DB00908;DB00468;DB01045;DB00503;DB00728;DB01098;DB01232;DB00641;DB00421;DB00669;DB04348;DB08834;DB08836;DB00624;DB01124;DB01586;DB00661;

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=OATP1a; IsoId=P46721-1; Sequence=Displayed; Name=OATP1b; IsoId=P46721-2; Sequence=VSP_006130, VSP_006131, VSP_006132; 


uniprotID: Q9Y6L6
geneSymbol: SLCO1B1
reactome: R-HSA-159418;R-HSA-5619110;R-HSA-5661182;R-HSA-879518;
length: 691
go: ENSG00000134538;
name:
Solute carrier organic anion transporter family member 1B1 (Liver-specific organic anion transporter 1) (LST-1) (OATP-C) (Sodium-independent organic anion-transporting polypeptide 2) (OATP-2) (Solute carrier family 21 member 6)

sequence:

opentargets:
basolateral plasma membrane [GO:0016323]; integral component of plasma membrane [GO:0005887]; membrane [GO:0016020]; 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]; organic anion transport [GO:0015711]; sodium-independent organic anion transport [GO:0043252]

drug:
DB06151;DB06403;DB00345;DB01076;DB06626;DB01053;DB01393;DB06772;DB00520;DB00439;DB02659;DB01211;DB05239;DB00286;DB00091;DB08912;DB09102;DB05804;DB00509;DB00390;DB00917;DB04881;DB06210;DB09272;DB00783;DB00655;DB00973;DB00950;DB01095;DB08884;DB01241;DB11575;DB01892;DB09054;DB00224;DB00762;DB00583;DB13153;DB13139;DB00451;DB00279;DB01583;DB00227;DB00563;DB00688;DB02691;DB00220;DB00275;DB01092;DB00213;DB13154;DB06589;DB00859;DB01132;DB08860;DB00175;DB00908;DB00912;DB01045;DB08864;DB00503;DB00412;DB01098;DB09292;DB01232;DB11362;DB06290;DB00641;DB00877;DB00669;DB04348;DB09137;DB00197;DB00177;DB00661;

snps:
rs56101265 rs56061388 rs2306283 rs2306282 rs11045819 rs72559745 rs4149056 rs72559746 rs11045852 rs55901008 rs56387224 rs72559748 rs59502379 rs34671512 rs56199088 rs55737008 

location:
SUBCELLULAR LOCATION: Basolateral cell membrane {ECO:0000269|PubMed:12196548}; Multi-pass membrane protein {ECO:0000269|PubMed:12196548}. Note=Detected in basolateral membranes of hepatocytes.


uniprotID: Q9NPD5
geneSymbol: SLCO1B3
reactome: R-HSA-159418;R-HSA-5619058;R-HSA-879518;
length: 702
go: ENSG00000111700;ENSG00000257046;
snps: rs4149117 rs7311358 rs60140950 rs12299012 rs556554798
location: SUBCELLULAR LOCATION: Basolateral cell membrane; Multi-pass membrane protein.
name:
Solute carrier organic anion transporter family member 1B3 (Liver-specific organic anion transporter 2) (LST-2) (Organic anion transporter 8) (Organic anion-transporting polypeptide 8) (OATP-8) (Solute carrier family 21 member 8)

sequence:

opentargets:
basolateral plasma membrane [GO:0016323]; integral component of plasma membrane [GO:0005887]; plasma membrane [GO:0005886]; bile acid transmembrane transporter activity [GO:0015125]; organic anion transmembrane transporter activity [GO:0008514]; sodium-independent organic anion transmembrane transporter activity [GO:0015347]; bile acid and bile salt transport [GO:0015721]; organic anion transport [GO:0015711]; sodium-independent organic anion transport [GO:0043252]

drug:
DB06403;DB01076;DB06772;DB00520;DB08862;DB02659;DB01211;DB05239;DB00286;DB08912;DB09102;DB05804;DB00390;DB01248;DB00783;DB00950;DB01095;DB08884;DB11575;DB09054;DB13153;DB13139;DB00451;DB00279;DB01583;DB00563;DB00688;DB02691;DB00275;DB01092;DB01229;DB13154;DB01132;DB08860;DB00175;DB01045;DB08864;DB06176;DB01098;DB09292;DB11362;DB04348;DB09137;DB00177;

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9NPD5-1; Sequence=Displayed; Name=2; IsoId=Q9NPD5-2; Sequence=VSP_056615, VSP_056616, VSP_056617; 


uniprotID: G3V0H7
geneSymbol: SLCO1B7
length: 640
go: ENSG00000205754;
location: SUBCELLULAR LOCATION: Cell membrane {ECO:0000305}; Multi-pass membrane protein {ECO:0000305}.
name:
Putative solute carrier organic anion transporter family member 1B7 (Liver-specific organic anion transporter 3) (LST-3)

sequence:

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


uniprotID: O15524
geneSymbol: SOCS1
length: 211
go: ENSG00000185338;
snps: rs11549428
reactome:
R-HSA-1266695;R-HSA-1433559;R-HSA-166058;R-HSA-6785807;R-HSA-877300;R-HSA-877312;R-HSA-909733;R-HSA-912694;R-HSA-982772;R-HSA-983168;

name:
Suppressor of cytokine signaling 1 (SOCS-1) (JAK-binding protein) (JAB) (STAT-induced STAT inhibitor 1) (SSI-1) (Tec-interacting protein 3) (TIP-3)

sequence:

opentargets:
cytoplasm [GO:0005737]; cytoplasmic ribonucleoprotein granule [GO:0036464]; cytoplasmic vesicle [GO:0031410]; cytosol [GO:0005829]; nucleoplasm [GO:0005654]; phosphatidylinositol 3-kinase complex [GO:0005942]; 1-phosphatidylinositol-3-kinase regulator activity [GO:0046935]; insulin-like growth factor receptor binding [GO:0005159]; kinase inhibitor activity [GO:0019210]; protein kinase binding [GO:0019901]; protein kinase inhibitor activity [GO:0004860]; cellular response to amino acid stimulus [GO:0071230]; cytokine-mediated signaling pathway [GO:0019221]; fat cell differentiation [GO:0045444]; interleukin-7-mediated signaling pathway [GO:0038111]; JAK-STAT cascade [GO:0007259]; negative regulation of CD8-positive, alpha-beta T cell differentiation [GO:0043377]; 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]; positive regulation of CD4-positive, alpha-beta T cell differentiation [GO:0043372]; positive regulation of regulatory T cell differentiation [GO:0045591]; protein ubiquitination [GO:0016567]; regulation of activation of Janus kinase activity [GO:0010533]; regulation of cytokine secretion [GO:0050707]; regulation of growth [GO:0040008]; regulation of interferon-gamma-mediated signaling pathway [GO:0060334]; regulation of protein phosphorylation [GO:0001932]

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:16410555}. Cytoplasmic vesicle {ECO:0000269|PubMed:16410555}. Note=Detected in perinuclear cytoplasmic vesicles upon interaction with FGFR3.


uniprotID: Q8WXH5
geneSymbol: SOCS4
reactome: R-HSA-8939242;
pdb: 2IZV;
name: Suppressor of cytokine signaling 4 (SOCS-4) (Suppressor of cytokine signaling 7) (SOCS-7)
length: 440
go: ENSG00000180008;
sequence:

opentargets:
intracellular [GO:0005622]; intracellular signal transduction [GO:0035556]; negative regulation of epidermal growth factor-activated receptor activity [GO:0007175]; positive regulation of proteasomal ubiquitin-dependent protein catabolic process [GO:0032436]; protein ubiquitination [GO:0016567]; regulation of growth [GO:0040008]


uniprotID: O14508
geneSymbol: SOCS2
reactome: R-HSA-1266695;R-HSA-8951664;R-HSA-982772;
pdb: 2C9W;4JGH;5BO4;
length: 198
go: ENSG00000120833;
snps: rs3741676
name:
Suppressor of cytokine signaling 2 (SOCS-2) (Cytokine-inducible SH2 protein 2) (CIS-2) (STAT-induced STAT inhibitor 2) (SSI-2)

sequence:
MTLRCLEPSGNGGEGTRSQWGTAGSAEEPSPQAARLAKALRELGQTGWYWGSMTVNEAKEKLKEAPEGTFLIRDSSHSDYLLTISVKTSAGPTNLRIEYQDGKFRLDSIICVKSKLKQFDSVVHLIDYYVQMCKDKRTGPEAPRNGTVHLYLTKPLYTSAPSLQHLCRLTINKCTGAIWGLPLPTRLKDYLEEYKFQV

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; phosphatidylinositol 3-kinase complex [GO:0005942]; 1-phosphatidylinositol-3-kinase regulator activity [GO:0046935]; growth hormone receptor binding [GO:0005131]; insulin-like growth factor receptor binding [GO:0005159]; JAK pathway signal transduction adaptor activity [GO:0008269]; SH3/SH2 adaptor activity [GO:0005070]; cellular response to hormone stimulus [GO:0032870]; growth hormone receptor signaling pathway [GO:0060396]; interleukin-7-mediated signaling pathway [GO:0038111]; JAK-STAT cascade [GO:0007259]; lactation [GO:0007595]; mammary gland alveolus development [GO:0060749]; negative regulation of apoptotic process [GO:0043066]; negative regulation of insulin receptor signaling pathway [GO:0046627]; negative regulation of JAK-STAT cascade [GO:0046426]; negative regulation of multicellular organism growth [GO:0040015]; phosphatidylinositol phosphorylation [GO:0046854]; positive regulation of neuron differentiation [GO:0045666]; post-translational protein modification [GO:0043687]; protein ubiquitination [GO:0016567]; regulation of cell growth [GO:0001558]; regulation of signal transduction [GO:0009966]; response to estradiol [GO:0032355]


uniprotID: O14544
geneSymbol: SOCS6
reactome: R-HSA-1433559;R-HSA-8951664;
pdb: 2VIF;
length: 535
go: ENSG00000170677;
name:
Suppressor of cytokine signaling 6 (SOCS-6) (Cytokine-inducible SH2 protein 4) (CIS-4) (Suppressor of cytokine signaling 4) (SOCS-4)

sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; immunological synapse [GO:0001772]; phosphatidylinositol 3-kinase complex [GO:0005942]; 1-phosphatidylinositol-3-kinase regulator activity [GO:0046935]; defense response [GO:0006952]; JAK-STAT cascade [GO:0007259]; negative regulation of signal transduction [GO:0009968]; negative regulation of T cell activation [GO:0050868]; phosphatidylinositol phosphorylation [GO:0046854]; post-translational protein modification [GO:0043687]; proteasomal protein catabolic process [GO:0010498]; protein ubiquitination [GO:0016567]; regulation of growth [GO:0040008]


uniprotID: P08294
geneSymbol: SOD3
reactome: R-HSA-3299685;
pdb: 2JLP;
name: Extracellular superoxide dismutase [Cu-Zn] (EC-SOD) (EC 1.15.1.1)
length: 240
go: ENSG00000109610;
snps: rs2536512 rs17879876 rs1799895
sequence:

opentargets:
collagen-containing extracellular matrix [GO:0062023]; cytoplasm [GO:0005737]; extracellular exosome [GO:0070062]; extracellular region [GO:0005576]; extracellular space [GO:0005615]; Golgi lumen [GO:0005796]; nucleus [GO:0005634]; copper ion binding [GO:0005507]; heparin binding [GO:0008201]; superoxide dismutase activity [GO:0004784]; superoxide dismutase copper chaperone activity [GO:0016532]; zinc ion binding [GO:0008270]; cellular response to oxidative stress [GO:0034599]; removal of superoxide radicals [GO:0019430]; response to copper ion [GO:0046688]; response to hypoxia [GO:0001666]

location:
SUBCELLULAR LOCATION: Secreted, extracellular space. Note=99% of EC-SOD is anchored to heparan sulfate proteoglycans in the tissue interstitium, and 1% is located in the vasculature in equilibrium between the plasma and the endothelium.


uniprotID: Q99962
geneSymbol: SH3GL2
pdb: 1X03;1X04;2D4C;2DBM;
length: 352
go: ENSG00000107295;
reactome:
R-HSA-177504;R-HSA-182971;R-HSA-2132295;R-HSA-432720;R-HSA-432722;R-HSA-437239;R-HSA-6807004;R-HSA-8856825;R-HSA-8856828;R-HSA-8875360;

name:
Endophilin-A1 (EEN-B1) (Endophilin-1) (SH3 domain protein 2A) (SH3 domain-containing GRB2-like protein 2)

sequence:

opentargets:
basal dendrite [GO:0097441]; clathrin-coated endocytic vesicle membrane [GO:0030669]; cytosol [GO:0005829]; early endosome [GO:0005769]; glutamatergic synapse [GO:0098978]; Golgi membrane [GO:0000139]; hippocampal mossy fiber to CA3 synapse [GO:0098686]; neuronal cell body [GO:0043025]; perinuclear region of cytoplasm [GO:0048471]; photoreceptor ribbon synapse [GO:0098684]; plasma membrane [GO:0005886]; presynaptic cytosol [GO:0099523]; Schaffer collateral - CA1 synapse [GO:0098685]; synaptic vesicle membrane [GO:0030672]; identical protein binding [GO:0042802]; lipid binding [GO:0008289]; protein C-terminus binding [GO:0008022]; protein homodimerization activity [GO:0042803]; protein kinase binding [GO:0019901]; antigen processing and presentation of exogenous peptide antigen via MHC class II [GO:0019886]; cellular response to brain-derived neurotrophic factor stimulus [GO:1990416]; central nervous system development [GO:0007417]; dendrite extension [GO:0097484]; lipid tube assembly [GO:0060988]; membrane bending [GO:0097753]; membrane organization [GO:0061024]; membrane tubulation [GO:0097749]; negative regulation of epidermal growth factor receptor signaling pathway [GO:0042059]; neuron projection development [GO:0031175]; positive regulation of membrane tubulation [GO:1903527]; regulation of clathrin-dependent endocytosis [GO:2000369]; regulation of receptor internalization [GO:0002090]; signal transduction [GO:0007165]; synaptic vesicle uncoating [GO:0016191]; vesicle scission [GO:0099050]

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250|UniProtKB:O35179}. Membrane {ECO:0000250|UniProtKB:O35179}; Peripheral membrane protein {ECO:0000250|UniProtKB:O35179}. Early endosome {ECO:0000250|UniProtKB:Q62420}. Note=Concentrated in presynaptic nerve terminals in neurons.


uniprotID: Q8IWL2
geneSymbol: SFTPA1
reactome: R-HSA-166016;R-HSA-168179;R-HSA-391160;R-HSA-5683826;R-HSA-5686938;R-HSA-5688849;R-HSA-5688890;
length: 248
go: ENSG00000122852;
drug: DB03814;
snps: rs72659389 rs139899873 rs1059047 rs1136450 rs4253527 rs1965708
name:
Pulmonary surfactant-associated protein A1 (PSP-A) (PSPA) (SP-A) (SP-A1) (35 kDa pulmonary surfactant-associated protein) (Alveolar proteinosis protein) (Collectin-4)

sequence:

opentargets:
clathrin-coated endocytic vesicle [GO:0045334]; collagen trimer [GO:0005581]; endoplasmic reticulum membrane [GO:0005789]; extracellular region [GO:0005576]; extracellular space [GO:0005615]; lamellar body [GO:0042599]; multivesicular body [GO:0005771]; rough endoplasmic reticulum [GO:0005791]; lipid transporter activity [GO:0005319]; lipopolysaccharide binding [GO:0001530]; monosaccharide binding [GO:0048029]; cellular protein metabolic process [GO:0044267]; opsonization [GO:0008228]; positive regulation of phagocytosis [GO:0050766]; respiratory gaseous exchange [GO:0007585]; surfactant homeostasis [GO:0043129]; toll-like receptor signaling pathway [GO:0002224]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q8IWL2-1; Sequence=Displayed; Name=2; IsoId=Q8IWL2-2; Sequence=VSP_046802; 

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


uniprotID: Q9BX95
geneSymbol: SGPP1
reactome: R-HSA-1660661;
length: 441
go: ENSG00000126821;
name:
Sphingosine-1-phosphate phosphatase 1 (SPPase1) (Spp1) (hSPP1) (hSPPase1) (EC 3.1.3.-) (Sphingosine-1-phosphatase 1)

sequence:

opentargets:
endoplasmic reticulum membrane [GO:0005789]; integral component of membrane [GO:0016021]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; plasma membrane [GO:0005886]; dihydrosphingosine-1-phosphate phosphatase activity [GO:0070780]; sphingosine-1-phosphate phosphatase activity [GO:0042392]; extrinsic apoptotic signaling pathway [GO:0097191]; intrinsic apoptotic signaling pathway [GO:0097193]; sphinganine-1-phosphate metabolic process [GO:0006668]; sphingolipid biosynthetic process [GO:0030148]; sphingosine metabolic process [GO:0006670]

location:
SUBCELLULAR LOCATION: Endoplasmic reticulum membrane {ECO:0000269|PubMed:12815058}; Multi-pass membrane protein {ECO:0000255}. Cell membrane {ECO:0000250|UniProtKB:Q9JI99}; Multi-pass membrane protein {ECO:0000255}.


uniprotID: O14492
geneSymbol: SH2B2
reactome: R-HSA-1433559;R-HSA-983231;
pdb: 1Q2H;
length: 632
go: ENSG00000160999;
name:
SH2B adapter protein 2 (Adapter protein with pleckstrin homology and Src homology 2 domains) (SH2 and PH domain-containing adapter protein APS)

sequence:

opentargets:
actin filament [GO:0005884]; cytoplasm [GO:0005737]; cytosol [GO:0005829]; plasma membrane [GO:0005886]; ruffle [GO:0001726]; stress fiber [GO:0001725]; identical protein binding [GO:0042802]; JAK pathway signal transduction adaptor activity [GO:0008269]; SH3/SH2 adaptor activity [GO:0005070]; transmembrane receptor protein tyrosine kinase adaptor activity [GO:0005068]; actin cytoskeleton organization [GO:0030036]; antigen receptor-mediated signaling pathway [GO:0050851]; B-1 B cell homeostasis [GO:0001922]; blood coagulation [GO:0007596]; brown fat cell differentiation [GO:0050873]; cytokine-mediated signaling pathway [GO:0019221]; insulin receptor signaling pathway [GO:0008286]; intracellular signal transduction [GO:0035556]; nervous system development [GO:0007399]; regulation of metabolic process [GO:0019222]; regulation of Ras protein signal transduction [GO:0046578]; signal transduction [GO:0007165]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=O14492-1; Sequence=Displayed; Name=2; IsoId=O14492-2; Sequence=VSP_059358; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:9989826}. Cell membrane {ECO:0000269|PubMed:9989826}. Note=Cytoplasmic before PDGF stimulation. After PDGF stimulation, localized at the cell membrane and peripheral region.


uniprotID: Q9UQQ2
geneSymbol: SH2B3
reactome: R-HSA-1433559;R-HSA-983231;
length: 575
go: ENSG00000111252;
drug: DB06589;
snps: rs7972796 rs3184504
name:
SH2B adapter protein 3 (Lymphocyte adapter protein) (Lymphocyte-specific adapter protein Lnk) (Signal transduction protein Lnk)

sequence:

opentargets:
cytosol [GO:0005829]; plasma membrane [GO:0005886]; transmembrane receptor protein tyrosine kinase adaptor activity [GO:0005068]; blood coagulation [GO:0007596]; cell differentiation [GO:0030154]; embryonic hemopoiesis [GO:0035162]; intracellular signal transduction [GO:0035556]


uniprotID: Q6ZNX1
geneSymbol: SHLD3
name: Shieldin complex subunit 3 (REV7-interacting novel NHEJ regulator 1) (Shield complex subunit 3)
length: 250
go: ENSG00000253251;
sequence:

opentargets:
chromosome [GO:0005694]; site of double-strand break [GO:0035861]; DNA repair [GO:0006281]; negative regulation of double-strand break repair via homologous recombination [GO:2000042]; positive regulation of double-strand break repair via nonhomologous end joining [GO:2001034]; positive regulation of isotype switching [GO:0045830]

location:
SUBCELLULAR LOCATION: Chromosome {ECO:0000269|PubMed:29656893}. Note=Recruited to sites of chromosomal double-stranded breaks during G1 and S phase of the cell cycle. {ECO:0000269|PubMed:29656893}.


uniprotID: Q96LC7
geneSymbol: SIGLEC10
reactome: R-HSA-198933;
name: Sialic acid-binding Ig-like lectin 10 (Siglec-10) (Siglec-like protein 2)
length: 697
go: ENSG00000142512;
snps: rs9304711 rs1833785
sequence:

opentargets:
extracellular region [GO:0005576]; integral component of membrane [GO:0016021]; plasma membrane [GO:0005886]; carbohydrate binding [GO:0030246]; phosphatase binding [GO:0019902]; SH2 domain binding [GO:0042169]; adaptive immune response [GO:0002250]; cell adhesion [GO:0007155]; innate immune response [GO:0045087]; negative regulation of inflammatory response to wounding [GO:0106015]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=9;  Name=1; Synonyms=Long; IsoId=Q96LC7-1; Sequence=Displayed; Name=2; Synonyms=Short, Sv1; IsoId=Q96LC7-2; Sequence=VSP_002565; Name=3; Synonyms=Sv3; IsoId=Q96LC7-3; Sequence=VSP_002564; Name=4; Synonyms=Sv4; IsoId=Q96LC7-4; Sequence=VSP_002561; Name=5; Synonyms=Sv2; IsoId=Q96LC7-5; Sequence=VSP_002562, VSP_002563; Name=6; IsoId=Q96LC7-6; Sequence=VSP_002564, VSP_002565; Name=7; IsoId=Q96LC7-7; Sequence=VSP_045365, VSP_002565; Note=No experimental confirmation available.; Name=8; IsoId=Q96LC7-8; Sequence=VSP_002564, VSP_045853, VSP_045854, VSP_002565; Note=No experimental confirmation available.; Name=9; IsoId=Q96LC7-9; Sequence=VSP_045888, VSP_002565; 

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


uniprotID: Q96RL6
geneSymbol: SIGLEC11
reactome: R-HSA-198933;
name: Sialic acid-binding Ig-like lectin 11 (Sialic acid-binding lectin 11) (Siglec-11)
length: 698
go: ENSG00000161640;
location: SUBCELLULAR LOCATION: Membrane; Single-pass type I membrane protein.
sequence:

opentargets:
cell surface [GO:0009986]; integral component of membrane [GO:0016021]; carbohydrate binding [GO:0030246]; phosphatase binding [GO:0019902]; sialic acid binding [GO:0033691]; multi organism cell adhesion [GO:0098740]; negative regulation of defense response to bacterium [GO:1900425]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q96RL6-1; Sequence=Displayed; Name=2; IsoId=Q96RL6-2; Sequence=VSP_008764; 


uniprotID: Q96PQ1
geneSymbol: SIGLEC12
reactome: R-HSA-198933;
length: 595
go: ENSG00000254521;
location: SUBCELLULAR LOCATION: Membrane; Single-pass type I membrane protein.
name:
Sialic acid-binding Ig-like lectin 12 (Siglec-12) (Sialic acid-binding Ig-like lectin-like 1) (Siglec-L1)

sequence:

opentargets:
integral component of membrane [GO:0016021]; carbohydrate binding [GO:0030246]; cell adhesion [GO:0007155]

snps:
rs2034891 rs2034891 rs3810110 rs6509544 rs6509544 rs11668530 rs3829658 rs3752135 rs57043266 rs7245807 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=Long; Synonyms=SLG-L; IsoId=Q96PQ1-1; Sequence=Displayed; Name=Short; Synonyms=SLG-S; IsoId=Q96PQ1-2; Sequence=VSP_002566; 


uniprotID: Q8N7X8
geneSymbol: SIGLECL1
name: SIGLEC family-like protein 1
length: 197
go: ENSG00000179213;
opentargets: integral component of membrane [GO:0016021]
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Single-pass membrane protein {ECO:0000305}.
sequence:
MLPLLQLVPAKLLNSSCSLEKTLQCSCSFHGIPTPSVQWWMGGVPVGVDGMDGSLQVTSTMLGPWANSTISLTEEPEMGMRLLCEGKNQNGTHALSILLMSRKSSLAAQAFVKGLIQGAIYAGIVIALLFLCLLPLIVKHIRKKQAKKAAAIRAKKSSKVRASQELEMSLKPEEPGKPVVATFSESRILEKQDKRAS


uniprotID: Q9Y286
geneSymbol: SIGLEC7
reactome: R-HSA-198933;
pdb: 1NKO;1O7S;1O7V;2DF3;2G5R;2HRL;
length: 467
go: ENSG00000168995;
drug: DB03740;
location: SUBCELLULAR LOCATION: Membrane; Single-pass type I membrane protein.
name:
Sialic acid-binding Ig-like lectin 7 (Siglec-7) (Adhesion inhibitory receptor molecule 1) (AIRM-1) (CDw328) (D-siglec) (QA79 membrane protein) (p75) (CD antigen CD328)

sequence:

opentargets:
integral component of plasma membrane [GO:0005887]; plasma membrane [GO:0005886]; carbohydrate binding [GO:0030246]; signaling receptor activity [GO:0038023]; cell adhesion [GO:0007155]; regulation of immune response [GO:0050776]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; Synonyms=AIRM-1b; IsoId=Q9Y286-1; Sequence=Displayed; Name=2; Synonyms=AIRM-2; IsoId=Q9Y286-2; Sequence=VSP_002555; Name=3; Synonyms=AIRM-3; IsoId=Q9Y286-3; Sequence=VSP_002556, VSP_002558; Note=No experimental confirmation available. May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.; Name=4; IsoId=Q9Y286-4; Sequence=VSP_002557, VSP_002558; Note=No experimental confirmation available.; 


uniprotID: Q9NYZ4
geneSymbol: SIGLEC8
reactome: R-HSA-198933;
pdb: 2N7A;2N7B;
name: Sialic acid-binding Ig-like lectin 8 (Siglec-8) (Sialoadhesin family member 2) (SAF-2)
length: 499
go: ENSG00000105366;
snps: rs10409962 rs3829659
location: SUBCELLULAR LOCATION: Membrane; Single-pass type I membrane protein.
sequence:

opentargets:
integral component of membrane [GO:0016021]; carbohydrate binding [GO:0030246]; transmembrane signaling receptor activity [GO:0004888]; cell adhesion [GO:0007155]; signal transduction [GO:0007165]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; Synonyms=Long; IsoId=Q9NYZ4-1; Sequence=Displayed; Name=2; IsoId=Q9NYZ4-2; Sequence=VSP_002559; Name=3; IsoId=Q9NYZ4-3; Sequence=VSP_002560; Note=May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.; 


