# annotation

uniprotID: O75326
geneSymbol: SEMA7A
reactome: R-HSA-416700;
pdb: 3NVQ;
length: 666
go: ENSG00000138623;
snps: rs16968733 rs55637216 rs56367230 rs387907241 rs56204206 rs56001514
name:
Semaphorin-7A (CDw108) (JMH blood group antigen) (John-Milton-Hargen human blood group Ag) (Semaphorin-K1) (Sema K1) (Semaphorin-L) (Sema L) (CD antigen CD108)

sequence:

opentargets:
anchored component of membrane [GO:0031225]; external side of plasma membrane [GO:0009897]; extracellular space [GO:0005615]; integral component of plasma membrane [GO:0005887]; membrane [GO:0016020]; plasma membrane [GO:0005886]; chemorepellent activity [GO:0045499]; integrin binding [GO:0005178]; neuropilin binding [GO:0038191]; semaphorin receptor binding [GO:0030215]; axon extension [GO:0048675]; immune response [GO:0006955]; inflammatory response [GO:0006954]; integrin-mediated signaling pathway [GO:0007229]; negative chemotaxis [GO:0050919]; negative regulation of axon extension involved in axon guidance [GO:0048843]; neural crest cell migration [GO:0001755]; olfactory lobe development [GO:0021988]; osteoblast differentiation [GO:0001649]; positive regulation of axon extension [GO:0045773]; positive regulation of cell migration [GO:0030335]; positive regulation of ERK1 and ERK2 cascade [GO:0070374]; positive regulation of macrophage cytokine production [GO:0060907]; regulation of inflammatory response [GO:0050727]; semaphorin-plexin signaling pathway [GO:0071526]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=O75326-1; Sequence=Displayed; Name=2; IsoId=O75326-2; Sequence=VSP_045349; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:10201933, ECO:0000269|PubMed:17671519, ECO:0000269|PubMed:9712866}; Lipid-anchor, GPI-anchor {ECO:0000269|PubMed:10201933, ECO:0000269|PubMed:17671519, ECO:0000269|PubMed:9712866}; Extracellular side {ECO:0000269|PubMed:10201933, ECO:0000269|PubMed:17671519, ECO:0000269|PubMed:9712866}. Note=Detected in a punctate pattern on the cell membrane of basal and supra-basal skin keratinocytes.


uniprotID: Q96GW9
geneSymbol: MARS2
reactome: R-HSA-379726;
length: 593
go: ENSG00000247626;
drug: DB00134;
snps: rs794726870
location: SUBCELLULAR LOCATION: Mitochondrion matrix {ECO:0000305}.
name:
Methionine--tRNA ligase, mitochondrial (EC 6.1.1.10) (Methionyl-tRNA synthetase 2) (Mitochondrial methionyl-tRNA synthetase) (MtMetRS)

sequence:

opentargets:
mitochondrial matrix [GO:0005759]; mitochondrion [GO:0005739]; ATP binding [GO:0005524]; methionine-tRNA ligase activity [GO:0004825]; methionyl-tRNA aminoacylation [GO:0006431]; tRNA aminoacylation for protein translation [GO:0006418]


uniprotID: A8MV23
geneSymbol: SERPINE3
name: Serpin E3
length: 424
go: ENSG00000253309;
snps: rs17790811
location: SUBCELLULAR LOCATION: Secreted {ECO:0000305}.
sequence:

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

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=A8MV23-1; Sequence=Displayed; Name=2; IsoId=A8MV23-2; Sequence=VSP_037586; 


uniprotID: Q86VW0
geneSymbol: SESTD1
length: 696
go: ENSG00000187231;
snps: rs17854501 rs1047994
name:
SEC14 domain and spectrin repeat-containing protein 1 (Huntingtin-interacting protein-like protein) (Protein Solo)

sequence:

opentargets:
intermediate filament cytoskeleton [GO:0045111]; phosphatidic acid binding [GO:0070300]; phosphatidylinositol-3,4-bisphosphate binding [GO:0043325]; phosphatidylinositol-3,5-bisphosphate binding [GO:0080025]; phosphatidylinositol-3-phosphate binding [GO:0032266]; phosphatidylinositol-4,5-bisphosphate binding [GO:0005546]; phosphatidylinositol-4-phosphate binding [GO:0070273]; phosphatidylinositol-5-phosphate binding [GO:0010314]; negative regulation of calcium ion transmembrane transport via high voltage-gated calcium channel [GO:1904878]


uniprotID: Q9UPS6
geneSymbol: SETD1B
reactome: R-HSA-3214841;R-HSA-8936459;
pdb: 3UVO;4ES0;
length: 1966
go: ENSG00000139718;
name:
Histone-lysine N-methyltransferase SETD1B (EC 2.1.1.43) (Lysine N-methyltransferase 2G) (SET domain-containing protein 1B) (hSET1B)

sequence:

opentargets:
chromosome [GO:0005694]; cytosol [GO:0005829]; histone methyltransferase complex [GO:0035097]; nuclear speck [GO:0016607]; nucleoplasm [GO:0005654]; Set1C/COMPASS complex [GO:0048188]; histone-lysine N-methyltransferase activity [GO:0018024]; RNA binding [GO:0003723]; histone H3-K4 methylation [GO:0051568]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9UPS6-1; Sequence=Displayed; Name=2; IsoId=Q9UPS6-2; Sequence=VSP_053875, VSP_053876; 

location:
SUBCELLULAR LOCATION: Nucleus speckle {ECO:0000269|PubMed:17355966}. Chromosome {ECO:0000269|PubMed:17355966}. Note=Localizes to a largely non-overlapping set of euchromatic nuclear speckles with SETD1A, suggesting that SETD1A and SET1B each bind to a unique set of target genes.


uniprotID: Q8WTS6
geneSymbol: SETD7
reactome: R-HSA-3214841;
length: 366
go: ENSG00000145391;
drug: DB01752;
location: SUBCELLULAR LOCATION: Nucleus. Chromosome {ECO:0000305}.
pdb:
1H3I;1MT6;1MUF;1N6A;1N6C;1O9S;1XQH;2F69;3CBM;3CBO;3CBP;3M53;3M54;3M55;3M56;3M57;3M58;3M59;3M5A;3OS5;3VUZ;3VV0;4E47;4J7F;4J7I;4J83;4J8O;4JDS;4JLG;5AYF;5EG2;5YLT;

name:
Histone-lysine N-methyltransferase SETD7 (EC 2.1.1.43) (Histone H3-K4 methyltransferase SETD7) (H3-K4-HMTase SETD7) (Lysine N-methyltransferase 7) (SET domain-containing protein 7) (SET7/9)

sequence:

opentargets:
chromosome [GO:0005694]; nucleolus [GO:0005730]; nucleoplasm [GO:0005654]; chromatin binding [GO:0003682]; histone-lysine N-methyltransferase activity [GO:0018024]; p53 binding [GO:0002039]; protein-lysine N-methyltransferase activity [GO:0016279]; cellular response to DNA damage stimulus [GO:0006974]; chromatin organization [GO:0006325]; heterochromatin organization [GO:0070828]; peptidyl-lysine dimethylation [GO:0018027]; peptidyl-lysine monomethylation [GO:0018026]; positive regulation of transcription, DNA-templated [GO:0045893]; regulation of histone H3-K9 methylation [GO:0051570]; response to ethanol [GO:0045471]


uniprotID: P0DME0
geneSymbol: SETSIP
length: 302
go: ENSG00000230667;
name:
Protein SETSIP (SET pseudogene protein 18) (SET similar protein) (Similar to SET translocation protein)

sequence:

opentargets:
cytoplasm [GO:0005737]; lipid droplet [GO:0005811]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; chromatin binding [GO:0003682]; endothelial cell differentiation [GO:0045446]; nucleosome assembly [GO:0006334]; positive regulation of transcription by RNA polymerase II [GO:0045944]

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:22869753}. Nucleus {ECO:0000269|PubMed:22869753}. Note=Translocated from the cytoplasm to the nucleus in protein-induced pluripotent stem (PiPS) endothelial cells.


uniprotID: Q9BYW2
geneSymbol: SETD2
reactome: R-HSA-3214841;
pdb: 2A7O;2MDC;2MDI;2MDJ;4FMU;4H12;5JJY;5JLB;5JLE;5LSS;5LSX;5LSY;5LSZ;5LT6;5LT7;5LT8;5V21;5V22;
length: 2564
go: ENSG00000181555;
name:
Histone-lysine N-methyltransferase SETD2 (EC 2.1.1.43) (HIF-1) (Huntingtin yeast partner B) (Huntingtin-interacting protein 1) (HIP-1) (Huntingtin-interacting protein B) (Lysine N-methyltransferase 3A) (Protein-lysine N-methyltransferase SETD2) (EC 2.1.1.-) (SET domain-containing protein 2) (hSET2) (p231HBP)

sequence:

opentargets:
chromosome [GO:0005694]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; alpha-tubulin binding [GO:0043014]; histone methyltransferase activity (H3-K36 specific) [GO:0046975]; histone-lysine N-methyltransferase activity [GO:0018024]; metal ion binding [GO:0046872]; protein-lysine N-methyltransferase activity [GO:0016279]; angiogenesis [GO:0001525]; cell migration involved in vasculogenesis [GO:0035441]; coronary vasculature morphogenesis [GO:0060977]; defense response to virus [GO:0051607]; embryonic cranial skeleton morphogenesis [GO:0048701]; embryonic placenta morphogenesis [GO:0060669]; endodermal cell differentiation [GO:0035987]; forebrain development [GO:0030900]; histone H3-K36 dimethylation [GO:0097676]; histone H3-K36 trimethylation [GO:0097198]; mesoderm morphogenesis [GO:0048332]; microtubule cytoskeleton organization involved in mitosis [GO:1902850]; mismatch repair [GO:0006298]; morphogenesis of a branching structure [GO:0001763]; neural tube closure [GO:0001843]; nucleosome organization [GO:0034728]; peptidyl-lysine monomethylation [GO:0018026]; peptidyl-lysine trimethylation [GO:0018023]; pericardium development [GO:0060039]; positive regulation of interferon-alpha production [GO:0032727]; regulation of cytokinesis [GO:0032465]; regulation of double-strand break repair via homologous recombination [GO:0010569]; regulation of mRNA export from nucleus [GO:0010793]; regulation of protein localization to chromatin [GO:1905634]; regulation of transcription, DNA-templated [GO:0006355]; response to type I interferon [GO:0034340]; stem cell development [GO:0048864]; stem cell differentiation [GO:0048863]; transcription elongation from RNA polymerase II promoter [GO:0006368]

snps:
rs186148199 rs757781388 rs188887061 rs9311404 rs1169288572 rs58906143 rs540476365 rs754921650 rs1478147351 rs869025570 rs11721074 rs4082155 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q9BYW2-1; Sequence=Displayed; Name=2; IsoId=Q9BYW2-2; Sequence=VSP_020915; Note=No experimental confirmation available.; Name=3; IsoId=Q9BYW2-3; Sequence=VSP_020914; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000250|UniProtKB:E9Q5F9}. Chromosome {ECO:0000250|UniProtKB:E9Q5F9}.


uniprotID: A6NDD5
geneSymbol: SYNDIG1L
length: 238
go: ENSG00000183379;
opentargets: Golgi apparatus [GO:0005794]; integral component of membrane [GO:0016021]
name:
Synapse differentiation-inducing gene protein 1-like (Capucin) (Dispanin subfamily C member 1) (DSPC1) (Transmembrane protein 90A)

sequence:

location:
SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Multi-pass membrane protein {ECO:0000305}. Golgi apparatus, cis-Golgi network {ECO:0000250}.


uniprotID: Q9H7C4
geneSymbol: SYNC
name: Syncoilin (Syncoilin intermediate filament 1) (Syncoilin-1)
length: 482
go: ENSG00000162520;
sequence:

opentargets:
cytosol [GO:0005829]; intermediate filament [GO:0005882]; neuromuscular junction [GO:0031594]; perinuclear region of cytoplasm [GO:0048471]; sarcolemma [GO:0042383]; Z disc [GO:0030018]; structural molecule activity [GO:0005198]; intermediate filament-based process [GO:0045103]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9H7C4-1; Sequence=Displayed; Name=2; IsoId=Q9H7C4-2; Sequence=VSP_039404; 

location:
SUBCELLULAR LOCATION: Cytoplasm, perinuclear region {ECO:0000250|UniProtKB:Q9EPM5}. Note=In skeletal muscle, colocalizes with DES and DTNA, and is localized at the myotendinous and neuromuscular junctions, sarcolemma and Z-lines. In myotubes, detected in a punctate cytoplasmic pattern (By similarity). {ECO:0000250|UniProtKB:Q9EPM5}.


uniprotID: Q8NF91
geneSymbol: SYNE1
reactome: R-HSA-1221632;
pdb: 4DXR;
length: 8797
go: ENSG00000131018;
name:
Nesprin-1 (Enaptin) (KASH domain-containing protein 1) (KASH1) (Myocyte nuclear envelope protein 1) (Myne-1) (Nuclear envelope spectrin repeat protein 1) (Synaptic nuclear envelope protein 1) (Syne-1)

sequence:

opentargets:
cytoplasm [GO:0005737]; cytoskeleton [GO:0005856]; Golgi apparatus [GO:0005794]; integral component of membrane [GO:0016021]; meiotic nuclear membrane microtubule tethering complex [GO:0034993]; nuclear envelope [GO:0005635]; nuclear membrane [GO:0031965]; nuclear outer membrane [GO:0005640]; nucleolus [GO:0005730]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; P-body [GO:0000932]; postsynaptic membrane [GO:0045211]; sarcomere [GO:0030017]; actin binding [GO:0003779]; actin filament binding [GO:0051015]; enzyme binding [GO:0019899]; identical protein binding [GO:0042802]; lamin binding [GO:0005521]; protein homodimerization activity [GO:0042803]; RNA binding [GO:0003723]; cytoskeletal anchoring at nuclear membrane [GO:0090286]; Golgi organization [GO:0007030]; muscle cell differentiation [GO:0042692]; nuclear matrix anchoring at nuclear membrane [GO:0090292]; nucleus organization [GO:0006997]; spermatogenesis [GO:0007283]

snps:
rs9397509 rs17082709 rs214976 rs35763277 rs214950 rs398123005 rs567753957 rs13210127 rs180727534 rs7775119 rs4645434 rs28385621 rs9479297 rs2130262 rs140492158 rs4870093 rs6911096 rs2306916 rs2306916 rs35987150 rs2306914 rs35654757 rs35079654 rs3945783 rs2147377 rs35763277 rs119103246 rs36215251 rs17082236 rs2252755 rs119103247 rs119103248 rs143049227 rs35591210 rs2295190 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=12;  Name=1; Synonyms=Nesprin-1 Giant, Enaptin; IsoId=Q8NF91-1; Sequence=Displayed; Name=2; Synonyms=Beta; IsoId=Q8NF91-2; Sequence=VSP_007130; Name=3; Synonyms=Alpha; IsoId=Q8NF91-3; Sequence=VSP_007132, VSP_007144; Name=4; IsoId=Q8NF91-4; Sequence=VSP_007134, VSP_007139, VSP_007140, VSP_007144; Name=5; IsoId=Q8NF91-5; Sequence=VSP_007135, VSP_007136; Note=No experimental confirmation available.; Name=6; IsoId=Q8NF91-6; Sequence=VSP_007137, VSP_007138; Note=No experimental confirmation available.; Name=7; IsoId=Q8NF91-7; Sequence=VSP_007141, VSP_007142; Note=No experimental confirmation available.; Name=8; Synonyms=Beta 2; IsoId=Q8NF91-8; Sequence=VSP_007131; Name=9; Synonyms=Alpha 2; IsoId=Q8NF91-9; Sequence=VSP_007133, VSP_007143, VSP_007144; Name=10; Synonyms=drop1; IsoId=Q8NF91-10; Sequence=VSP_057478, VSP_057479, VSP_057480; Note=Lost in uterus, cervix, kidney, lung, thyroid and pancreas carcinomas, already at early tumor stages. {ECO:0000269|PubMed:18709643}; Name=11; Synonyms=myne-1, 131kDa; IsoId=Q8NF91-11; Sequence=VSP_057476; Note=Muscle-specific.; Name=GSRP-56; Synonyms=56kDa; IsoId=Q8NF91-12; Sequence=VSP_057477, VSP_057481, VSP_057482; Note=Interacts with TRPV2. {ECO:0000269|PubMed:16875688}; 

location:
SUBCELLULAR LOCATION: Nucleus outer membrane {ECO:0000305}; Single-pass type IV membrane protein {ECO:0000305}; Cytoplasmic side {ECO:0000305}. Nucleus. Nucleus envelope. Cytoplasm, cytoskeleton. Cytoplasm, myofibril, sarcomere. Note=The largest part of the protein is cytoplasmic, while its C-terminal part is associated with the nuclear envelope, most probably the outer nuclear membrane. In skeletal and smooth muscles, a significant amount is found in the sarcomeres. In myoblasts, relocalized from the nuclear envelope to the nucleus and cytoplasm during cell differentiation.; SUBCELLULAR LOCATION: Isoform GSRP-56: Golgi apparatus {ECO:0000269|PubMed:16875688}.


uniprotID: Q8WXH0
geneSymbol: SYNE2
reactome: R-HSA-1221632;
pdb: 4DXS;4FI9;
length: 6885
go: ENSG00000054654;
name:
Nesprin-2 (KASH domain-containing protein 2) (KASH2) (Nuclear envelope spectrin repeat protein 2) (Nucleus and actin connecting element protein) (Protein NUANCE) (Synaptic nuclear envelope protein 2) (Syne-2)

sequence:

opentargets:
aggresome [GO:0016235]; centrosome [GO:0005813]; cytoplasm [GO:0005737]; extracellular exosome [GO:0070062]; filopodium membrane [GO:0031527]; focal adhesion [GO:0005925]; integral component of membrane [GO:0016021]; intermediate filament cytoskeleton [GO:0045111]; lamellipodium membrane [GO:0031258]; meiotic nuclear membrane microtubule tethering complex [GO:0034993]; mitochondrion [GO:0005739]; nuclear envelope [GO:0005635]; nuclear lumen [GO:0031981]; nuclear membrane [GO:0031965]; nuclear outer membrane [GO:0005640]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; sarcoplasmic reticulum [GO:0016529]; sarcoplasmic reticulum membrane [GO:0033017]; Z disc [GO:0030018]; actin binding [GO:0003779]; actin filament binding [GO:0051015]; centriole-centriole cohesion [GO:0010457]; centrosome localization [GO:0051642]; cytoskeletal anchoring at nuclear membrane [GO:0090286]; nuclear migration [GO:0007097]; nuclear migration along microfilament [GO:0031022]; nucleokinesis involved in cell motility in cerebral cortex radial glia guided migration [GO:0021817]; positive regulation of cell migration [GO:0030335]; regulation of cilium assembly [GO:1902017]

snps:
rs2275017 rs35554503 rs9944035 rs17751301 rs4902264 rs4027402 rs34625768 rs4027404 rs7157465 rs4027404 rs4027405 rs4027405 rs34393543 rs11628107 rs1890908 rs1890908 rs3829767 rs34843668 rs11847087 rs8010911 rs8010699 rs35203186 rs10137972 rs17101661 rs17766354 rs12881815 rs2039475 rs10151658 rs17179194 rs2275014 rs36215895 rs35315070 rs35700578 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=13;  Name=1; Synonyms=Nesprin-2 Giant, NUANCE; IsoId=Q8WXH0-1; Sequence=Displayed; Name=2; IsoId=Q8WXH0-2; Sequence=VSP_007164, VSP_007166; Note=No experimental confirmation available.; Name=3; Synonyms=epsilon2, JAM19; IsoId=Q8WXH0-3; Sequence=VSP_007155; Note=Produced by exon skipping that results in a frameshift.; Name=4; Synonyms=beta1; IsoId=Q8WXH0-4; Sequence=VSP_007156; Name=5; Synonyms=alpha1; IsoId=Q8WXH0-5; Sequence=VSP_007157, VSP_007164, VSP_007165; Name=6; Synonyms=alpha2; IsoId=Q8WXH0-6; Sequence=VSP_007158, VSP_007165, VSP_007166; Name=7; Synonyms=Gamma; IsoId=Q8WXH0-7; Sequence=VSP_007154, VSP_007163; Name=8; Synonyms=p32CH; IsoId=Q8WXH0-8; Sequence=VSP_007161, VSP_007162; Note=Lacks the spectrin repeats and KASH domain.; Name=9; Synonyms=NUANCE-N-33; IsoId=Q8WXH0-9; Sequence=VSP_007159, VSP_007160; Name=10; Synonyms=beta2; IsoId=Q8WXH0-10; Sequence=VSP_057484, VSP_007166; Name=11; Synonyms=FLJ56122; IsoId=Q8WXH0-11; Sequence=VSP_057483, VSP_057487; Note=No experimental confirmation available.; Name=12; Synonyms=FLJ55476; IsoId=Q8WXH0-12; Sequence=VSP_007157, VSP_007164; Note=No experimental confirmation available.; Name=13; Synonyms=epsilon1, JAM28; IsoId=Q8WXH0-13; Sequence=VSP_057485, VSP_057486; Note=Detected only in ovary and early embryonic cells. {ECO:0000269|PubMed:24718612}; 

location:
SUBCELLULAR LOCATION: Nucleus outer membrane {ECO:0000305}; Single-pass type IV membrane protein {ECO:0000305}; Cytoplasmic side {ECO:0000305}. Sarcoplasmic reticulum membrane {ECO:0000305|PubMed:15671068}; Single-pass type IV membrane protein {ECO:0000305}. Cell membrane {ECO:0000305}; Single-pass membrane protein {ECO:0000305}. Cytoplasm, cytoskeleton. Mitochondrion. Nucleus, nucleoplasm. Cytoplasm, myofibril, sarcomere, Z line {ECO:0000305|PubMed:15671068}. Note=Different isoform patterns are found in the different compartments of the cell. The isoforms having the C-terminal transmembrane span can be found in several organellar membranes like the nuclear envelope, the sarcoplasmic reticulum of myoblasts, or the lamellipodia and focal adhesions at the cell membrane. The largest part of the outer nuclear membrane-associated protein is cytoplasmic, while its C-terminal part is associated with the nuclear envelope, most probably the outer nuclear membrane. Remains associated with the nuclear envelope during its breakdown in mitotic cells. Shorter soluble isoforms can be found in the cytoplasm and within the nucleus.; SUBCELLULAR LOCATION: Isoform 8: Cell junction, focal adhesion {ECO:0000269|PubMed:22768332}. Note=In U2OS cells. {ECO:0000269|PubMed:22768332}.


uniprotID: O75533
geneSymbol: SF3B1
reactome: R-HSA-5250924;R-HSA-72163;R-HSA-72165;
pdb: 2F9D;2F9J;2FHO;2PEH;3LQV;4OZ1;5IFE;5O9Z;5Z56;5Z57;5Z58;5ZYA;6EN4;6FF4;
length: 1304
go: ENSG00000115524;
name:
Splicing factor 3B subunit 1 (Pre-mRNA-splicing factor SF3b 155 kDa subunit) (SF3b155) (Spliceosome-associated protein 155) (SAP 155)

sequence:

opentargets:
catalytic step 2 spliceosome [GO:0071013]; nuclear speck [GO:0016607]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; spliceosomal complex [GO:0005681]; U11/U12 snRNP [GO:0034693]; U12-type spliceosomal complex [GO:0005689]; U2 snRNP [GO:0005686]; U2-type precatalytic spliceosome [GO:0071005]; U2-type prespliceosome [GO:0071004]; mRNA binding [GO:0003729]; RNA binding [GO:0003723]; mRNA splicing, via spliceosome [GO:0000398]; positive regulation of gene expression, epigenetic [GO:0045815]; RNA splicing, via transesterification reactions [GO:0000375]; spliceosomal complex assembly [GO:0000245]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=O75533-1; Sequence=Displayed; Name=2; IsoId=O75533-2; Sequence=VSP_046182, VSP_046183; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:27720643, ECO:0000269|PubMed:28541300}. Nucleus speckle. Note=During mitosis, transiently dispersed from the nuclear speckles to the cytoplasm.


uniprotID: Q8N205
geneSymbol: SYNE4
name: Nesprin-4 (KASH domain-containing protein 4) (KASH4) (Nuclear envelope spectrin repeat protein 4)
length: 404
go: ENSG00000181392;
snps: rs34818970 rs2285422
sequence:

opentargets:
integral component of nuclear outer membrane [GO:0031309]; meiotic nuclear membrane microtubule tethering complex [GO:0034993]; establishment of epithelial cell apical/basal polarity [GO:0045198]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q8N205-1; Sequence=Displayed; Name=2; IsoId=Q8N205-2; Sequence=VSP_028444; 

location:
SUBCELLULAR LOCATION: Nucleus outer membrane {ECO:0000269|PubMed:23348741}; Single-pass type IV membrane protein {ECO:0000269|PubMed:23348741}. Note=Localization at the nucleus outer membrane requires the presence of SUN1. {ECO:0000250}.


uniprotID: Q15393
geneSymbol: SF3B3
reactome: R-HSA-72163;R-HSA-72165;
pdb: 5IFE;5O9Z;5Z56;5Z57;5Z58;5ZYA;6EN4;6FF4;
length: 1217
go: ENSG00000189091;
snps: rs11551673
name:
Splicing factor 3B subunit 3 (Pre-mRNA-splicing factor SF3b 130 kDa subunit) (SF3b130) (STAF130) (Spliceosome-associated protein 130) (SAP 130)

sequence:

opentargets:
catalytic step 2 spliceosome [GO:0071013]; nucleolus [GO:0005730]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; small nuclear ribonucleoprotein complex [GO:0030532]; spliceosomal complex [GO:0005681]; U12-type spliceosomal complex [GO:0005689]; U2-type precatalytic spliceosome [GO:0071005]; nucleic acid binding [GO:0003676]; protein-containing complex binding [GO:0044877]; mRNA splicing, via spliceosome [GO:0000398]; negative regulation of protein catabolic process [GO:0042177]; RNA splicing, via transesterification reactions [GO:0000375]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q15393-1; Sequence=Displayed; Name=2; IsoId=Q15393-2; Sequence=VSP_022978, VSP_022979; Note=No experimental confirmation available.; Name=3; IsoId=Q15393-3; Sequence=VSP_022977; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:10490618, ECO:0000269|PubMed:11564863, ECO:0000269|PubMed:27720643, ECO:0000269|PubMed:28541300, ECO:0000269|PubMed:28781166}.


uniprotID: Q9Y3B4
geneSymbol: SF3B6
reactome: R-HSA-72163;R-HSA-72165;
pdb: 2F9D;2F9J;2FHO;3LQV;5Z56;5Z57;5Z58;6FF4;
length: 125
go: ENSG00000115128;
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:27720643, ECO:0000269|PubMed:28541300}.
name:
Splicing factor 3B subunit 6 (Pre-mRNA branch site protein p14) (SF3b 14 kDa subunit) (SF3B14a) (Spliceosome-associated protein, 14-kDa) (Splicing factor 3b, subunit 6, 14kDa)

sequence:
MAMQAAKRANIRLPPEVNRILYIRNLPYKITAEEMYDIFGKYGPIRQIRVGNTPETRGTAYVVYEDIFDAKNACDHLSGFNVCNRYLVVLYYNANRAFQKMDTKKKEEQLKLLKEKYGINTDPPK

opentargets:
catalytic step 2 spliceosome [GO:0071013]; nucleoplasm [GO:0005654]; U12-type spliceosomal complex [GO:0005689]; U2 snRNP [GO:0005686]; RNA binding [GO:0003723]; blastocyst formation [GO:0001825]; mRNA splicing, via spliceosome [GO:0000398]


uniprotID: Q8IWL1
geneSymbol: SFTPA2
length: 248
snps: rs1059046 rs192907309 rs17886395 rs1965708
reactome:
R-HSA-166016;R-HSA-168179;R-HSA-391160;R-HSA-5683826;R-HSA-5686938;R-HSA-5687868;R-HSA-5688849;R-HSA-5688890;

name:
Pulmonary surfactant-associated protein A2 (PSP-A) (PSPA) (SP-A) (SP-A2) (35 kDa pulmonary surfactant-associated protein) (Alveolar proteinosis protein) (Collectin-5)

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]; lipopolysaccharide binding [GO:0001530]; monosaccharide binding [GO:0048029]; cellular protein metabolic process [GO:0044267]; positive regulation of phagocytosis [GO:0050766]; respiratory gaseous exchange [GO:0007585]; surfactant homeostasis [GO:0043129]; toll-like receptor signaling pathway [GO:0002224]

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


uniprotID: O95104
geneSymbol: SCAF4
length: 1147
go: ENSG00000156304;
opentargets: nucleoplasm [GO:0005654]; RNA binding [GO:0003723]
snps: rs12152067
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000250}.
name:
Splicing factor, arginine/serine-rich 15 (CTD-binding SR-like protein RA4) (SR-related and CTD-associated factor 4)

sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=O95104-1; Sequence=Displayed; Name=2; IsoId=O95104-2; Sequence=VSP_005879; Note=No experimental confirmation available.; Name=3; IsoId=O95104-3; Sequence=VSP_047351; Note=No experimental confirmation available.; 


uniprotID: Q13296
geneSymbol: SCGB2A2
name: Mammaglobin-A (Mammaglobin-1) (Secretoglobin family 2A member 2)
sequence: MKLLMVLMLAALSQHCYAGSGCPLLENVISKTINPQVSKTEYKELLQEFIDDNATTNAIDELKECFLNQTDETLSNVEVFMQLIYDSSLCDLF
length: 93
go: ENSG00000110484;
opentargets: extracellular region [GO:0005576]
location: SUBCELLULAR LOCATION: Secreted {ECO:0000305}.
isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q13296-1; Sequence=Displayed; Name=2; IsoId=Q13296-2; Sequence=VSP_009122; 


uniprotID: Q96LW2
geneSymbol: SGK494
name: Uncharacterized serine/threonine-protein kinase SgK494 (EC 2.7.11.1) (Sugen kinase 494)
length: 410
go: ENSG00000258472;
opentargets: ATP binding [GO:0005524]; protein serine/threonine kinase activity [GO:0004674]
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q96LW2-1; Sequence=Displayed; Name=2; IsoId=Q96LW2-2; Sequence=VSP_020678, VSP_020679; Name=3; IsoId=Q96LW2-3; Sequence=VSP_059421, VSP_059422; Note=May be due to an intron retention.; 


uniprotID: A6NJ88
geneSymbol: SAGE2P
name: Putative SAGE1-like protein (Sarcoma antigen 2 pseudogene)
length: 616
opentargets: integrator complex [GO:0032039]; snRNA 3'-end processing [GO:0034472]
sequence:


uniprotID: O00141
geneSymbol: SGK1
reactome: R-HSA-2672351;R-HSA-6804757;
pdb: 2R5T;3HDM;3HDN;
name: Serine/threonine-protein kinase Sgk1 (EC 2.7.11.1) (Serum/glucocorticoid-regulated kinase 1)
length: 431
go: ENSG00000118515;
drug: DB03247;
snps: rs34133418 rs55932330
sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; endoplasmic reticulum membrane [GO:0005789]; mitochondrion [GO:0005739]; nuclear speck [GO:0016607]; nucleus [GO:0005634]; plasma membrane [GO:0005886]; ATP binding [GO:0005524]; calcium channel regulator activity [GO:0005246]; chloride channel regulator activity [GO:0017081]; potassium channel regulator activity [GO:0015459]; protein serine/threonine kinase activity [GO:0004674]; protein serine/threonine/tyrosine kinase activity [GO:0004712]; sodium channel regulator activity [GO:0017080]; apoptotic process [GO:0006915]; cellular response to DNA damage stimulus [GO:0006974]; intracellular signal transduction [GO:0035556]; ion transmembrane transport [GO:0034220]; long-term memory [GO:0007616]; neuron projection morphogenesis [GO:0048812]; peptidyl-serine phosphorylation [GO:0018105]; positive regulation of transporter activity [GO:0032411]; protein phosphorylation [GO:0006468]; regulation of apoptotic process [GO:0042981]; regulation of blood pressure [GO:0008217]; regulation of catalytic activity [GO:0050790]; regulation of cell growth [GO:0001558]; regulation of cell migration [GO:0030334]; regulation of cell proliferation [GO:0042127]; regulation of DNA-binding transcription factor activity [GO:0051090]; regulation of gastric acid secretion [GO:0060453]; renal sodium ion absorption [GO:0070294]; sodium ion transport [GO:0006814]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative promoter usage, Alternative splicing; Named isoforms=5;  Name=1; IsoId=O00141-1; Sequence=Displayed; Name=2; Synonyms=Sgk1.1, Sgk1_v2; IsoId=O00141-2; Sequence=VSP_037784; Note=Produced by alternative promoter usage.; Name=3; Synonyms=Sgk1.2; IsoId=O00141-3; Sequence=VSP_037785; Note=Produced by alternative promoter usage.; Name=4; IsoId=O00141-4; Sequence=VSP_037786; Note=Produced by alternative splicing of isoform 1.; Name=5; IsoId=O00141-5; Sequence=VSP_037787; Note=Produced by alternative promoter usage.; 

location:
SUBCELLULAR LOCATION: Cytoplasm. Nucleus. Endoplasmic reticulum membrane. Cell membrane. Mitochondrion. Note=The subcellular localization is controlled by the cell cycle, as well as by exposure to specific hormones and environmental stress stimuli. In proliferating cells, it shuttles between the nucleus and cytoplasm in synchrony with the cell cycle, and in serum/growth factor-stimulated cells it resides in the nucleus. In contrast, after exposure to environmental stress or treatment with glucocorticoids, it is detected in the cytoplasm and with certain stress conditions is associated with the mitochondria. In osmoregulation through the epithelial sodium channel, it can be localized to the cytoplasmic surface of the cell membrane. Nuclear, upon phosphorylation.; SUBCELLULAR LOCATION: Isoform 2: Cell membrane.


uniprotID: Q96BR1
geneSymbol: SGK3
reactome: R-HSA-2672351;
pdb: 6EDX;
length: 496
go: ENSG00000104205;
snps: rs750700898
name:
Serine/threonine-protein kinase Sgk3 (EC 2.7.11.1) (Cytokine-independent survival kinase) (Serum/glucocorticoid-regulated kinase 3) (Serum/glucocorticoid-regulated kinase-like)

sequence:

opentargets:
cytosol [GO:0005829]; early endosome [GO:0005769]; recycling endosome [GO:0055037]; ATP binding [GO:0005524]; calcium channel regulator activity [GO:0005246]; chloride channel regulator activity [GO:0017081]; phosphatidylinositol binding [GO:0035091]; potassium channel regulator activity [GO:0015459]; protein kinase activity [GO:0004672]; protein serine/threonine kinase activity [GO:0004674]; sodium channel regulator activity [GO:0017080]; intracellular signal transduction [GO:0035556]; ion transmembrane transport [GO:0034220]; negative regulation of extrinsic apoptotic signaling pathway in absence of ligand [GO:2001240]; peptidyl-serine phosphorylation [GO:0018105]; protein phosphorylation [GO:0006468]; regulation of cell growth [GO:0001558]; regulation of cell migration [GO:0030334]; regulation of cell proliferation [GO:0042127]; regulation of DNA-binding transcription factor activity [GO:0051090]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q96BR1-1; Sequence=Displayed; Name=2; IsoId=Q96BR1-2; Sequence=VSP_041903; 

location:
SUBCELLULAR LOCATION: Cytoplasmic vesicle {ECO:0000250}. Early endosome. Recycling endosome. Note=Endosomal localization is a prerequisite for complete kinase activity. It is essential for its colocalization with the kinase responsible for phosphorylating Ser-486 thus allowing PDPK1 phosphorylation of Thr-320 resulting in complete activation of SGK3. Localized in vesicle-like structures and in the early endosome. Colocalizes with SLC9A3/NHE3 in the recycling endosomes.


uniprotID: Q5FBB7
geneSymbol: SGO1
reactome: R-HSA-141444;R-HSA-2467813;R-HSA-2500257;R-HSA-5663220;R-HSA-68877;
pdb: 3FGA;3Q6S;4A0I;
name: Shugoshin 1 (Serologically defined breast cancer antigen NY-BR-85) (Shugoshin-like 1)
length: 561
go: ENSG00000129810;
snps: rs199815268 rs6806241 rs9868701
sequence:

opentargets:
centrosome [GO:0005813]; chromosome, centromeric region [GO:0000775]; condensed chromosome kinetochore [GO:0000777]; condensed chromosome, centromeric region [GO:0000779]; cytosol [GO:0005829]; kinetochore [GO:0000776]; nucleoplasm [GO:0005654]; spindle pole [GO:0000922]; kinase binding [GO:0019900]; attachment of spindle microtubules to kinetochore [GO:0008608]; cell division [GO:0051301]; centriole-centriole cohesion [GO:0010457]; chromosome segregation [GO:0007059]; meiotic chromosome segregation [GO:0045132]; mitotic sister chromatid cohesion, centromeric [GO:0071962]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=7;  Name=1; Synonyms=1EF, SgoL1-A2; IsoId=Q5FBB7-1; Sequence=Displayed; Name=2; Synonyms=1GH, SgoL1-B2; IsoId=Q5FBB7-2; Sequence=VSP_016792, VSP_016794; Name=3; Synonyms=1KL, sSGO1, SgoL1-C2; IsoId=Q5FBB7-3; Sequence=VSP_016790, VSP_016791; Name=4; Synonyms=1CD, SgoL1-B1; IsoId=Q5FBB7-4; Sequence=VSP_016792, VSP_016794, VSP_016795; Name=5; Synonyms=1AB, SgoL1-C1; IsoId=Q5FBB7-5; Sequence=VSP_016790, VSP_016791, VSP_016795; Name=6; Synonyms=1AB, SgoL1-A1; IsoId=Q5FBB7-6; Sequence=VSP_016795; Name=7; Synonyms=1J; IsoId=Q5FBB7-7; Sequence=VSP_016793; 

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000305|PubMed:16582621}. Chromosome, centromere {ECO:0000269|PubMed:15604152, ECO:0000269|PubMed:15723797, ECO:0000269|PubMed:16541025, ECO:0000269|PubMed:16580887, ECO:0000269|PubMed:21346195}. Chromosome, centromere, kinetochore {ECO:0000269|PubMed:16582621, ECO:0000269|PubMed:17617734, ECO:0000269|PubMed:17621308}. Cytoplasm, cytoskeleton, spindle pole {ECO:0000269|PubMed:16582621, ECO:0000269|PubMed:18331714}. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome {ECO:0000269|PubMed:18331714}. Note=Localizes to the inner centromere throughout prophase until metaphase and disappears at anaphase (PubMed:16541025). Centromeric localization requires the presence of BUB1 and the interaction with PPP2R1A (PubMed:16580887)(PubMed:16541025)(PubMed:15604152). Colocalizes with NEK2 at the kinetochore (PubMed:17621308). Colocalizes with and SS18L1 at the kinetochore (PubMed:16582621). Phosphorylation by AUKRB and the presence of BUB1 are required for localization to the kinetochore (PubMed:17617734). Isoform 1 primarily localizes to kinetochores during G2 phase and mitotic prophase, metaphase, and anaphase and does not appear to be associated with kinetochores during late mitosis (PubMed:16582621). Isoform 3 is found at the centrosome in interphase and at spindle poles in mitosis and its spindle pole localization is PLK1 dependent (PubMed:16582621). Isoform 3 does not localize to kinetochores during any stages of the cell cycle (PubMed:16582621). {ECO:0000269|PubMed:15604152, ECO:0000269|PubMed:16541025, ECO:0000269|PubMed:16580887, ECO:0000269|PubMed:16582621, ECO:0000269|PubMed:17617734, ECO:0000269|PubMed:17621308}.


uniprotID: Q9P0V3
geneSymbol: SH3BP4
name: SH3 domain-binding protein 4 (EH-binding protein 10) (Transferrin receptor-trafficking protein)
length: 963
go: ENSG00000130147;
snps: rs3731644 rs3731646
sequence:

opentargets:
clathrin-coated pit [GO:0005905]; clathrin-coated vesicle [GO:0030136]; cytoplasm [GO:0005737]; extracellular exosome [GO:0070062]; nucleus [GO:0005634]; GDP-dissociation inhibitor activity [GO:0005092]; identical protein binding [GO:0042802]; Ras GTPase binding [GO:0017016]; cellular response to amino acid stimulus [GO:0071230]; endocytosis [GO:0006897]; negative regulation of cell growth [GO:0030308]; negative regulation of cell proliferation [GO:0008285]; negative regulation of GTPase activity [GO:0034260]; negative regulation of TOR signaling [GO:0032007]; positive regulation of autophagy [GO:0010508]; protein localization to lysosome [GO:0061462]; regulation of catalytic activity [GO:0050790]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9P0V3-1; Sequence=Displayed; Name=2; IsoId=Q9P0V3-2; Sequence=VSP_022823; Note=No experimental confirmation available. Dubious isoform produced through aberrant splice sites.; 

location:
SUBCELLULAR LOCATION: Membrane, clathrin-coated pit. Cytoplasmic vesicle, clathrin-coated vesicle. Nucleus {ECO:0000305}. Note=Specifically associated with transferrin receptor-containing clathrin-coated pits and clathrin-coated vesicles. May also localize to the nucleus.


uniprotID: Q6S5L8
geneSymbol: SHC4
length: 630
go: ENSG00000185634;
snps: rs17856991 rs17856990 rs16961728 rs17856992
name:
SHC-transforming protein 4 (Rai-like protein) (RaLP) (SHC-transforming protein D) (hShcD) (Src homology 2 domain-containing-transforming protein C4) (SH2 domain protein C4)

sequence:

opentargets:
cell junction [GO:0030054]; intracellular [GO:0005622]; plasma membrane [GO:0005886]; postsynaptic membrane [GO:0045211]; protein domain specific binding [GO:0019904]; receptor tyrosine kinase binding [GO:0030971]; apoptotic process [GO:0006915]; intracellular signal transduction [GO:0035556]; positive regulation of cell proliferation [GO:0008284]; regulation of gene expression [GO:0010468]; stem cell differentiation [GO:0048863]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q6S5L8-1; Sequence=Displayed; Name=2; IsoId=Q6S5L8-2; Sequence=VSP_033965, VSP_033966; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cell junction, synapse, postsynaptic cell membrane. Note=Colocalized with MUSK at the neuromuscular junction. {ECO:0000250}.


uniprotID: Q99961
geneSymbol: SH3GL1
reactome: R-HSA-182971;R-HSA-6807004;R-HSA-8856825;R-HSA-8856828;R-HSA-8875360;
length: 368
go: ENSG00000141985;
name:
Endophilin-A2 (EEN fusion partner of MLL) (Endophilin-2) (Extra eleven-nineteen leukemia fusion gene protein) (EEN) (SH3 domain protein 2B) (SH3 domain-containing GRB2-like protein 1)

sequence:

opentargets:
cell junction [GO:0030054]; cell projection [GO:0042995]; cytoplasm [GO:0005737]; cytosol [GO:0005829]; early endosome membrane [GO:0031901]; glutamatergic synapse [GO:0098978]; hippocampal mossy fiber to CA3 synapse [GO:0098686]; podosome [GO:0002102]; postsynaptic density, intracellular component [GO:0099092]; presynapse [GO:0098793]; Schaffer collateral - CA1 synapse [GO:0098685]; beta-1 adrenergic receptor binding [GO:0031697]; cadherin binding [GO:0045296]; GTPase binding [GO:0051020]; identical protein binding [GO:0042802]; ion channel binding [GO:0044325]; lipid binding [GO:0008289]; phosphatase binding [GO:0019902]; protein C-terminus binding [GO:0008022]; SH3 domain binding [GO:0017124]; central nervous system development [GO:0007417]; modulation of excitatory postsynaptic potential [GO:0098815]; positive regulation of synaptic vesicle endocytosis [GO:1900244]; signal transduction [GO:0007165]; synaptic vesicle uncoating [GO:0016191]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q99961-1; Sequence=Displayed; Name=2; IsoId=Q99961-2; Sequence=VSP_045837; Note=No experimental confirmation available.; Name=3; IsoId=Q99961-3; Sequence=VSP_047037; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250}. Early endosome membrane {ECO:0000250}; Peripheral membrane protein {ECO:0000250}. Cell projection, podosome {ECO:0000269|PubMed:23285027}. Note=Associated with postsynaptic endosomes in hippocampal neurons. {ECO:0000250}.


uniprotID: Q6UW10
geneSymbol: SFTA2
name: Surfactant-associated protein 2 (Surfactant-associated protein G) (SP-G)
sequence: MGSGLPLVLLLTLLGSSHGTGPGMTLQLKLKESFLTNSSYESSFLELLEKLCLLLHLPSGTSVTLHHARSQHHVVCNT
length: 78
go: ENSG00000196260;
opentargets: extracellular region [GO:0005576]; Golgi apparatus [GO:0005794]; transport vesicle [GO:0030133]
snps: rs3131787
location:
SUBCELLULAR LOCATION: Secreted {ECO:0000305|PubMed:22768197}. Cytoplasmic vesicle, secretory vesicle {ECO:0000269|PubMed:22768197}. Golgi apparatus {ECO:0000269|PubMed:22768197}.


uniprotID: Q96IW2
geneSymbol: SHD
name: SH2 domain-containing adapter protein D
length: 340
go: ENSG00000105251;
opentargets: phosphotyrosine residue binding [GO:0001784]
snps: rs2287714 rs888930
sequence:


uniprotID: Q8IWX5
geneSymbol: SGPP2
reactome: R-HSA-1660661;
length: 399
go: ENSG00000163082;
name:
Sphingosine-1-phosphate phosphatase 2 (SPPase2) (Spp2) (hSPP2) (EC 3.1.3.-) (Sphingosine-1-phosphatase 2)

sequence:

opentargets:
endoplasmic reticulum [GO:0005783]; endoplasmic reticulum membrane [GO:0005789]; integral component of membrane [GO:0016021]; dihydrosphingosine-1-phosphate phosphatase activity [GO:0070780]; sphingosine-1-phosphate phosphatase activity [GO:0042392]; sphingolipid biosynthetic process [GO:0030148]; sphingosine metabolic process [GO:0006670]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q8IWX5-1; Sequence=Displayed; Name=2; IsoId=Q8IWX5-2; Sequence=VSP_039385; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Endoplasmic reticulum membrane {ECO:0000269|PubMed:12411432}; Multi-pass membrane protein {ECO:0000269|PubMed:12411432}.


uniprotID: Q9NRF2
geneSymbol: SH2B1
reactome: R-HSA-1170546;R-HSA-2586552;R-HSA-982772;R-HSA-983231;
pdb: 5W3R;
length: 756
go: ENSG00000178188;
snps: rs7498665 rs17850682
name:
SH2B adapter protein 1 (Pro-rich, PH and SH2 domain-containing signaling mediator) (PSM) (SH2 domain-containing protein 1B)

sequence:

opentargets:
cytosol [GO:0005829]; nucleus [GO:0005634]; plasma membrane [GO:0005886]; transmembrane receptor protein tyrosine kinase adaptor activity [GO:0005068]; blood coagulation [GO:0007596]; intracellular signal transduction [GO:0035556]; lamellipodium assembly [GO:0030032]; positive regulation of mitotic nuclear division [GO:0045840]; regulation of DNA biosynthetic process [GO:2000278]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; Synonyms=Alpha; IsoId=Q9NRF2-1; Sequence=Displayed; Name=2; Synonyms=Beta; IsoId=Q9NRF2-2; Sequence=VSP_032027; Name=3; Synonyms=Gamma; IsoId=Q9NRF2-3; Sequence=VSP_032028; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250}. Membrane {ECO:0000305}. Nucleus {ECO:0000250}. Note=Shuttles between the nucleus and the cytoplasm. {ECO:0000250}.


uniprotID: Q9BZQ2
geneSymbol: SHCBP1L
name: Testicular spindle-associated protein SHCBP1L (SHC SH2 domain-binding protein 1-like protein)
length: 653
go: ENSG00000157060;
snps: rs12138972
sequence:

opentargets:
cytoplasm [GO:0005737]; meiotic spindle [GO:0072687]; cell differentiation [GO:0030154]; positive regulation of chromosome organization [GO:2001252]; spermatogenesis [GO:0007283]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=3; IsoId=Q9BZQ2-3; Sequence=Displayed; Name=2; IsoId=Q9BZQ2-2; Sequence=VSP_024673, VSP_024676; Name=4; IsoId=Q9BZQ2-4; Sequence=VSP_024677, VSP_024678; 

location:
SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton, spindle {ECO:0000250|UniProtKB:Q3TTP0}. Note=Colocalizes with alpha tubulin during meiosis. Colocalizes with HSPA2 at spindle during the meiosis process. {ECO:0000250|UniProtKB:Q3TTP0}.


uniprotID: Q6ZV89
geneSymbol: SH2D5
name: SH2 domain-containing protein 5
length: 423
go: ENSG00000189410;
opentargets: cell junction [GO:0030054]; postsynaptic density [GO:0014069]; postsynaptic membrane [GO:0045211]
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q6ZV89-1; Sequence=Displayed; Name=2; IsoId=Q6ZV89-2; Sequence=VSP_045938; 

location:
SUBCELLULAR LOCATION: Cell junction, synapse, postsynaptic cell membrane, postsynaptic density {ECO:0000250|UniProtKB:Q8JZW5}.


uniprotID: Q7Z4S9
geneSymbol: SH2D6
name: SH2 domain-containing protein 6
length: 175
go: ENSG00000152292;
sequence:
MYASSYPPPPQLSPRSHLCPPPPHPTPPQLNNLLLLEGRKSSLPSVAPTGSASAAEDSDLLTQPWYSGNCDRYAVESALLHLQKDGAYTVRPSSGPHGSQPFTLAVLLRGRVFNIPIRRLDGGRHYALGREGRNREELFSSVAAMVQHFMWHPLPLVDRHSGSRELTCLLFPTKP

opentargets:
cytoplasm [GO:0005737]; SH3/SH2 adaptor activity [GO:0005070]; intracellular signal transduction [GO:0035556]; transmembrane receptor protein tyrosine kinase signaling pathway [GO:0007169]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q7Z4S9-1; Sequence=Displayed; Name=2; IsoId=Q7Z4S9-2; Sequence=VSP_029014, VSP_029015; Note=No experimental confirmation available.; 


uniprotID: P78324
geneSymbol: SIRPA
reactome: R-HSA-202733;R-HSA-391160;R-HSA-6798695;
pdb: 2JJS;2JJT;2UV3;2WNG;4CMM;6BIT;
length: 504
go: ENSG00000198053;
location: SUBCELLULAR LOCATION: Membrane; Single-pass type I membrane protein.
name:
Tyrosine-protein phosphatase non-receptor type substrate 1 (SHP substrate 1) (SHPS-1) (Brain Ig-like molecule with tyrosine-based activation motifs) (Bit) (CD172 antigen-like family member A) (Inhibitory receptor SHPS-1) (Macrophage fusion receptor) (MyD-1 antigen) (Signal-regulatory protein alpha-1) (Sirp-alpha-1) (Signal-regulatory protein alpha-2) (Sirp-alpha-2) (Signal-regulatory protein alpha-3) (Sirp-alpha-3) (p84) (CD antigen CD172a)

sequence:

opentargets:
cell surface [GO:0009986]; extracellular exosome [GO:0070062]; ficolin-1-rich granule membrane [GO:0101003]; integral component of plasma membrane [GO:0005887]; membrane [GO:0016020]; plasma membrane [GO:0005886]; tertiary granule membrane [GO:0070821]; cell-cell adhesion mediator activity [GO:0098632]; GTPase regulator activity [GO:0030695]; protein antigen binding [GO:1990405]; protein binding involved in heterotypic cell-cell adhesion [GO:0086080]; protein phosphatase binding [GO:0019903]; protein tyrosine kinase binding [GO:1990782]; SH3 domain binding [GO:0017124]; cell adhesion [GO:0007155]; cell migration [GO:0016477]; cellular response to hydrogen peroxide [GO:0070301]; cellular response to interferon-gamma [GO:0071346]; cellular response to interleukin-1 [GO:0071347]; cellular response to interleukin-12 [GO:0071349]; cellular response to lipopolysaccharide [GO:0071222]; leukocyte migration [GO:0050900]; monocyte extravasation [GO:0035696]; negative regulation of chemokine (C-C motif) ligand 5 production [GO:0071650]; negative regulation of cytokine production involved in inflammatory response [GO:1900016]; negative regulation of ERK1 and ERK2 cascade [GO:0070373]; negative regulation of I-kappaB phosphorylation [GO:1903720]; negative regulation of inflammatory response [GO:0050728]; negative regulation of interferon-beta production [GO:0032688]; negative regulation of interleukin-6 production [GO:0032715]; negative regulation of JNK cascade [GO:0046329]; negative regulation of macrophage inflammatory protein 1 alpha production [GO:0071641]; negative regulation of nitric oxide biosynthetic process [GO:0045019]; negative regulation of phagocytosis [GO:0050765]; negative regulation of protein phosphorylation [GO:0001933]; negative regulation of tumor necrosis factor production [GO:0032720]; 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]; regulation of gene expression [GO:0010468]; regulation of interferon-gamma production [GO:0032649]; regulation of interleukin-1 beta production [GO:0032651]; regulation of interleukin-6 production [GO:0032675]; regulation of nitric oxide biosynthetic process [GO:0045428]; regulation of tumor necrosis factor production [GO:0032680]

snps:
rs1349896458 rs143735290 rs17855609 rs17855610 rs17855611 rs17855612 rs1057114 rs138283486 rs386811662 rs17855615 rs17855616 rs767136065 rs386811663 rs143385810 rs377448893 rs754806675 rs2422666 rs138876160 rs778218860 rs1168490568 rs367629199 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=P78324-1; Sequence=Displayed; Name=2; IsoId=P78324-2; Sequence=VSP_007030; Note=No experimental confirmation available.; Name=4; IsoId=P78324-4; Sequence=VSP_040799; 


uniprotID: A0MZ66
geneSymbol: SHTN1
reactome: R-HSA-437239;
name: Shootin-1 (Shootin1)
length: 631
go: ENSG00000187164;
sequence:

opentargets:
axon [GO:0030424]; axonal growth cone [GO:0044295]; cell leading edge [GO:0031252]; cytoplasm [GO:0005737]; filopodium [GO:0030175]; growth cone [GO:0030426]; lamellipodium [GO:0030027]; microtubule [GO:0005874]; microtubule associated complex [GO:0005875]; microtubule cytoskeleton [GO:0015630]; perikaryon [GO:0043204]; perinuclear region of cytoplasm [GO:0048471]; actin filament binding [GO:0051015]; cadherin binding [GO:0045296]; kinesin binding [GO:0019894]; actin filament bundle retrograde transport [GO:0061573]; axonogenesis [GO:0007409]; Cdc42 protein signal transduction [GO:0032488]; cytoplasmic actin-based contraction involved in cell motility [GO:0060327]; endoplasmic reticulum polarization [GO:0061163]; netrin-activated signaling pathway [GO:0038007]; neuron projection morphogenesis [GO:0048812]; positive regulation of axon extension [GO:0045773]; positive regulation of neuron migration [GO:2001224]; Ras protein signal transduction [GO:0007265]; regulation of establishment of cell polarity [GO:2000114]; substrate-dependent cell migration, cell extension [GO:0006930]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=8;  Name=1; IsoId=A0MZ66-1; Sequence=Displayed; Name=2; IsoId=A0MZ66-2; Sequence=VSP_027050, VSP_027051; Name=3; IsoId=A0MZ66-3; Sequence=VSP_027053; Note=No experimental confirmation available.; Name=4; IsoId=A0MZ66-4; Sequence=VSP_027052; Note=No experimental confirmation available.; Name=5; IsoId=A0MZ66-5; Sequence=VSP_036498; Name=6; IsoId=A0MZ66-6; Sequence=VSP_036499; Name=7; IsoId=A0MZ66-7; Sequence=VSP_036497; Name=8; IsoId=A0MZ66-8; Sequence=VSP_036498, VSP_027052; 

location:
SUBCELLULAR LOCATION: Perikaryon {ECO:0000250|UniProtKB:Q8K2Q9}. Cell projection, axon {ECO:0000250|UniProtKB:Q8K2Q9}. Cell projection, growth cone {ECO:0000250|UniProtKB:Q8K2Q9}. Cytoplasm, cytoskeleton {ECO:0000250|UniProtKB:Q8K2Q9}. Cell projection, filopodium {ECO:0000250|UniProtKB:A0MZ67}. Cell projection, lamellipodium {ECO:0000250|UniProtKB:A0MZ67}. Note=Localizes in multiple growth cones at neurite tips before the neuronal symmetry-breaking step. Accumulates in growth cones of a single nascent axon in a neurite length-dependent manner during the neuronal symmetry-breaking step; when absent from the nascent axon's siblings, probably due to competitive transport, prevents the formation of surplus axons. Transported anterogradely from the soma to the axon growth cone in an actin and myosin-dependent manner and passively diffuses back to the cell bodies. Colocalized with L1CAM in close apposition with actin filaments in filopodia and lamellipodia of axonal growth cones in hippocampal neurons. Exhibits retrograde movements in filopodia and lamellopodia of axonal growth cones. Colocalized with KIF20B along microtubules to the tip of the growing cone in primary hippocampal neurons. Recruted to the growth cone of developing axon in a KIF20B- and microtubule-dependent manner. {ECO:0000250|UniProtKB:A0MZ67, ECO:0000250|UniProtKB:Q8K2Q9}.


uniprotID: Q8TF72
geneSymbol: SHROOM3
pdb: 6FBB;6FCP;
name: Protein Shroom3 (Shroom-related protein) (hShrmL)
length: 1996
go: ENSG00000138771;
snps: rs3821979 rs344140 rs344141 rs3733242
sequence:

opentargets:
adherens junction [GO:0005912]; apical junction complex [GO:0043296]; apical plasma membrane [GO:0016324]; cortical actin cytoskeleton [GO:0030864]; cytoskeleton [GO:0005856]; microtubule [GO:0005874]; actin filament binding [GO:0051015]; actin cytoskeleton organization [GO:0030036]; actin filament organization [GO:0007015]; apical protein localization [GO:0045176]; cell morphogenesis [GO:0000902]; cellular pigment accumulation [GO:0043482]; epithelial cell development [GO:0002064]; neural tube closure [GO:0001843]; pattern specification process [GO:0007389]; regulation of cell shape [GO:0008360]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q8TF72-1; Sequence=Displayed; Name=2; IsoId=Q8TF72-2; Sequence=VSP_024965, VSP_024966, VSP_024967, VSP_024968; 

location:
SUBCELLULAR LOCATION: Cell junction, adherens junction {ECO:0000250}. Cytoplasm, cytoskeleton {ECO:0000250}. Note=Colocalizes with F-actin in stress fibers and adherens junctions. {ECO:0000250}.


uniprotID: Q92185
geneSymbol: ST8SIA1
reactome: R-HSA-4085001;
length: 356
go: ENSG00000111728;
name:
Alpha-N-acetylneuraminide alpha-2,8-sialyltransferase (EC 2.4.99.8) (Alpha-2,8-sialyltransferase 8A) (Ganglioside GD3 synthase) (Ganglioside GT3 synthase) (Sialyltransferase 8A) (SIAT8-A) (Sialyltransferase St8Sia I) (ST8SiaI)

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]; cellular response to heat [GO:0034605]; glycosphingolipid biosynthetic process [GO:0006688]; positive regulation of cell proliferation [GO:0008284]; protein glycosylation [GO:0006486]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q92185-1; Sequence=Displayed; Name=2; Synonyms=Sat-2; IsoId=Q92185-2; Sequence=VSP_047583, VSP_047584; 


uniprotID: Q92186
geneSymbol: ST8SIA2
reactome: R-HSA-4085001;R-HSA-419037;R-HSA-975577;
length: 375
go: ENSG00000140557;
name:
Alpha-2,8-sialyltransferase 8B (EC 2.4.99.-) (Sialyltransferase 8B) (SIAT8-B) (Sialyltransferase St8Sia II) (ST8SiaII) (Sialyltransferase X) (STX)

sequence:

opentargets:
early endosome [GO:0005769]; Golgi membrane [GO:0000139]; integral component of membrane [GO:0016021]; recycling endosome [GO:0055037]; alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity [GO:0003828]; sialic acid binding [GO:0033691]; carbohydrate metabolic process [GO:0005975]; cellular protein modification process [GO:0006464]; ganglioside biosynthetic process [GO:0001574]; N-glycan processing [GO:0006491]; nervous system development [GO:0007399]; oligosaccharide metabolic process [GO:0009311]; protein glycosylation [GO:0006486]


uniprotID: P15907
geneSymbol: ST6GAL1
reactome: R-HSA-4085001;R-HSA-975577;R-HSA-977068;
pdb: 4JS1;4JS2;
length: 406
go: ENSG00000073849;
name:
Beta-galactoside alpha-2,6-sialyltransferase 1 (Alpha 2,6-ST 1) (EC 2.4.99.1) (B-cell antigen CD75) (CMP-N-acetylneuraminate-beta-galactosamide-alpha-2,6-sialyltransferase 1) (ST6Gal I) (ST6GalI) (Sialyltransferase 1)

sequence:

opentargets:
extracellular region [GO:0005576]; Golgi cisterna membrane [GO:0032580]; Golgi membrane [GO:0000139]; integral component of membrane [GO:0016021]; beta-galactoside alpha-2,6-sialyltransferase activity [GO:0003835]; protein homodimerization activity [GO:0042803]; sialyltransferase activity [GO:0008373]; humoral immune response [GO:0006959]; N-acetylneuraminate metabolic process [GO:0006054]; O-glycan processing [GO:0016266]; protein N-linked glycosylation via asparagine [GO:0018279]; sialylation [GO:0097503]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P15907-1; Sequence=Displayed; Name=2; IsoId=P15907-2; Sequence=VSP_056076; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Golgi apparatus, Golgi stack membrane {ECO:0000269|PubMed:20378551}; Single-pass type II membrane protein {ECO:0000305}. Secreted. Note=Membrane-bound form in trans cisternae of Golgi. Secreted into the body fluid.


uniprotID: Q6ZMC9
geneSymbol: SIGLEC15
reactome: R-HSA-2172127;
name: Sialic acid-binding Ig-like lectin 15 (Siglec-15) (CD33 antigen-like 3)
length: 328
go: ENSG00000197046;
snps: rs2919643
location: SUBCELLULAR LOCATION: Membrane; Single-pass type I membrane protein.
sequence:

opentargets:
integral component of membrane [GO:0016021]; plasma membrane [GO:0005886]; protein-containing complex [GO:0032991]; innate immune response [GO:0045087]; regulation of actin cytoskeleton organization [GO:0032956]; regulation of bone resorption [GO:0045124]; regulation of osteoclast development [GO:2001204]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q6ZMC9-1; Sequence=Displayed; Name=2; IsoId=Q6ZMC9-2; Sequence=VSP_056817, VSP_056818; Note=No experimental confirmation available.; 


uniprotID: Q9UJ37
geneSymbol: ST6GALNAC2
reactome: R-HSA-4085001;R-HSA-977068;
pdb: 6APJ;6APL;
length: 374
go: ENSG00000070731;
name:
Alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase 2 (EC 2.4.99.3) (GalNAc alpha-2,6-sialyltransferase II) (ST6GalNAc II) (ST6GalNAcII) (SThM) (Sialyltransferase 7B) (SIAT7-B)

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]; O-glycan processing [GO:0016266]; protein glycosylation [GO:0006486]; protein O-linked glycosylation [GO:0006493]; protein sialylation [GO:1990743]


uniprotID: Q8IYI0
geneSymbol: SHLD1
length: 205
go: ENSG00000171984;
snps: rs237422
location: SUBCELLULAR LOCATION: Chromosome {ECO:0000269|PubMed:29656893}.
name:
Shieldin complex subunit 1 (RINN1-REV7-interacting novel NHEJ regulator 3) (Shield complex subunit 1)

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]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q8IYI0-1; Sequence=Displayed; Name=2; IsoId=Q8IYI0-2; Sequence=VSP_025125; 


uniprotID: O43255
geneSymbol: SIAH2
reactome: R-HSA-373752;R-HSA-5689880;R-HSA-977225;R-HSA-983168;
pdb: 5H9M;
length: 324
go: ENSG00000181788;
name:
E3 ubiquitin-protein ligase SIAH2 (EC 2.3.2.27) (RING-type E3 ubiquitin transferase SIAH2) (Seven in absentia homolog 2) (Siah-2) (hSiah2)

sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; early endosome [GO:0005769]; intracellular membrane-bounded organelle [GO:0043231]; neuron projection [GO:0043005]; neuronal cell body [GO:0043025]; nucleoplasm [GO:0005654]; transcription corepressor activity [GO:0003714]; ubiquitin conjugating enzyme binding [GO:0031624]; ubiquitin protein ligase activity [GO:0061630]; ubiquitin-protein transferase activity [GO:0004842]; zinc ion binding [GO:0008270]; apoptotic process [GO:0006915]; cell cycle [GO:0007049]; cellular protein catabolic process [GO:0044257]; cellular protein metabolic process [GO:0044267]; multicellular organism development [GO:0007275]; negative regulation of apoptotic process [GO:0043066]; negative regulation of canonical Wnt signaling pathway [GO:0090090]; negative regulation of cysteine-type endopeptidase activity involved in apoptotic process [GO:0043154]; negative regulation of extrinsic apoptotic signaling pathway [GO:2001237]; negative regulation of netrin-activated signaling pathway [GO:1902842]; proteasome-mediated ubiquitin-dependent protein catabolic process [GO:0043161]; protein deubiquitination [GO:0016579]; protein polyubiquitination [GO:0000209]; regulation of protein ubiquitination [GO:0031396]; small GTPase mediated signal transduction [GO:0007264]; ubiquitin-dependent protein catabolic process [GO:0006511]

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:19224863, ECO:0000269|PubMed:22878263}. Nucleus {ECO:0000269|PubMed:22878263}. Note=Predominantly cytoplasmic. Partially nuclear. {ECO:0000269|PubMed:22878263}.


uniprotID: Q86V20
geneSymbol: SHLD2
length: 835
go: ENSG00000122376;
snps: rs3129520 rs11202365 rs11816168
name:
Shieldin complex subunit 2 (Protein FAM35A) (RINN1-REV7-interacting novel NHEJ regulator 2) (Shield complex subunit 2)

sequence:

opentargets:
chromosome [GO:0005694]; nucleus [GO:0005634]; 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]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q86V20-1; Sequence=Displayed; Name=2; IsoId=Q86V20-2; Sequence=VSP_016165; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:29656893, ECO:0000269|PubMed:29789392}. Chromosome {ECO:0000269|PubMed:29656893, ECO:0000305|PubMed:29789392}. Note=Localizes to nuclear foci in response to DNA damage. {ECO:0000269|PubMed:29656893, ECO:0000269|PubMed:29789392}.


uniprotID: P21815
geneSymbol: IBSP
reactome: R-HSA-216083;R-HSA-3000178;
length: 317
go: ENSG00000029559;
snps: rs1054627 rs13144371 rs17013181 rs17013182 rs1054628 rs1054629
location: SUBCELLULAR LOCATION: Secreted.
name:
Bone sialoprotein 2 (Bone sialoprotein II) (BSP II) (Cell-binding sialoprotein) (Integrin-binding sialoprotein)

sequence:

opentargets:
extracellular matrix [GO:0031012]; extracellular region [GO:0005576]; extracellular space [GO:0005615]; membrane [GO:0016020]; vesicle [GO:0031982]; integrin binding [GO:0005178]; bone mineralization [GO:0030282]; cell adhesion [GO:0007155]; cellular response to growth factor stimulus [GO:0071363]; extracellular matrix organization [GO:0030198]; osteoblast differentiation [GO:0001649]; positive regulation of cell adhesion [GO:0045785]


uniprotID: O43699
geneSymbol: SIGLEC6
reactome: R-HSA-198933;
length: 453
go: ENSG00000105492;
snps: rs2305773 rs2005199
name:
Sialic acid-binding Ig-like lectin 6 (Siglec-6) (CD33 antigen-like 1) (CDw327) (Obesity-binding protein 1) (OB-BP1) (CD antigen CD327)

sequence:

opentargets:
extracellular region [GO:0005576]; integral component of plasma membrane [GO:0005887]; membrane [GO:0016020]; carbohydrate binding [GO:0030246]; cell adhesion [GO:0007155]; cell-cell signaling [GO:0007267]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=6;  Name=1; Synonyms=Membrane-bound, CD33L1; IsoId=O43699-1; Sequence=Displayed; Name=2; Synonyms=Secreted, CD33L2; IsoId=O43699-2; Sequence=VSP_002553, VSP_002554; Note=Should not be confused with SIGLEC5 which has been called CD33L2.; Name=3; IsoId=O43699-3; Sequence=VSP_035812; Note=No experimental confirmation available.; Name=4; IsoId=O43699-4; Sequence=VSP_035811, VSP_002553, VSP_002554; Note=No experimental confirmation available.; Name=5; IsoId=O43699-5; Sequence=VSP_045387, VSP_045388; Note=No experimental confirmation available. {ECO:0000305}; Name=6; IsoId=O43699-6; Sequence=VSP_046070, VSP_035812; Note=No experimental confirmation available.; 

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


uniprotID: O75182
geneSymbol: SIN3B
reactome: R-HSA-400206;R-HSA-427413;R-HSA-8936459;
length: 1162
go: ENSG00000127511;
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000255|PROSITE-ProRule:PRU00810}.
name:
Paired amphipathic helix protein Sin3b (Histone deacetylase complex subunit Sin3b) (Transcriptional corepressor Sin3b)

sequence:

opentargets:
autosome [GO:0030849]; chromatin [GO:0000785]; cytoplasm [GO:0005737]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; Sin3 complex [GO:0016580]; X chromosome [GO:0000805]; XY body [GO:0001741]; Y chromosome [GO:0000806]; chromatin binding [GO:0003682]; transcription corepressor activity [GO:0003714]; histone deacetylation [GO:0016575]; negative regulation of transcription by RNA polymerase II [GO:0000122]; regulation of lipid metabolic process [GO:0019216]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; Synonyms=Long; IsoId=O75182-1; Sequence=Displayed; Note=No experimental confirmation available. {ECO:0000305}; Name=2 {ECO:0000269|PubMed:9734811}; IsoId=O75182-2; Sequence=VSP_014186; Note=No experimental confirmation available. {ECO:0000305}; Name=3 {ECO:0000269|PubMed:15489334}; IsoId=O75182-3; Sequence=VSP_014185; Note=No experimental confirmation available. {ECO:0000305}; 


uniprotID: Q14190
geneSymbol: SIM2
name: Single-minded homolog 2 (Class E basic helix-loop-helix protein 15) (bHLHe15)
length: 667
go: ENSG00000159263;
snps: rs2073601
sequence:

opentargets:
nuclear body [GO:0016604]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; DNA binding [GO:0003677]; DNA-binding transcription factor activity [GO:0003700]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; protein heterodimerization activity [GO:0046982]; cell differentiation [GO:0030154]; embryonic pattern specification [GO:0009880]; lung development [GO:0030324]; negative regulation of transcription by RNA polymerase II [GO:0000122]; nervous system development [GO:0007399]; regulation of transcription by RNA polymerase II [GO:0006357]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=SIM2; IsoId=Q14190-1; Sequence=Displayed; Name=SIM2S; IsoId=Q14190-2; Sequence=VSP_002148, VSP_012767; 

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000255|PROSITE-ProRule:PRU00632, ECO:0000255|PROSITE-ProRule:PRU00981, ECO:0000269|PubMed:14697214}.


uniprotID: Q96EE3
geneSymbol: SEH1L
pdb: 5A9Q;
length: 360
go: ENSG00000085415;
snps: rs6505776
name:
Nucleoporin SEH1 (GATOR complex protein SEH1) (Nup107-160 subcomplex subunit SEH1) (SEC13-like protein)

sequence:

opentargets:
condensed chromosome kinetochore [GO:0000777]; cytosol [GO:0005829]; GATOR2 complex [GO:0061700]; lysosomal membrane [GO:0005765]; nuclear envelope [GO:0005635]; nuclear pore outer ring [GO:0031080]; identical protein binding [GO:0042802]; structural molecule activity [GO:0005198]; attachment of mitotic spindle microtubules to kinetochore [GO:0051315]; cell division [GO:0051301]; cellular protein-containing complex localization [GO:0034629]; cellular response to amino acid starvation [GO:0034198]; cytokine production involved in inflammatory response [GO:0002534]; defense response to Gram-positive bacterium [GO:0050830]; mitotic metaphase plate congression [GO:0007080]; mRNA export from nucleus [GO:0006406]; nuclear pore organization [GO:0006999]; positive regulation of TOR signaling [GO:0032008]; positive regulation of TORC1 signaling [GO:1904263]; viral process [GO:0016032]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=A; Synonyms=SEH1A; IsoId=Q96EE3-2; Sequence=Displayed; Name=B; Synonyms=SEH1B; IsoId=Q96EE3-1; Sequence=VSP_037954; 

location:
SUBCELLULAR LOCATION: Chromosome, centromere, kinetochore {ECO:0000269|PubMed:15146057, ECO:0000269|PubMed:17363900}. Nucleus, nuclear pore complex {ECO:0000269|PubMed:15146057, ECO:0000269|PubMed:17363900}. Lysosome membrane {ECO:0000269|PubMed:28199306}.


uniprotID: Q9H4I8
geneSymbol: SERHL2
name: Serine hydrolase-like protein 2 (EC 3.1.-.-)
length: 314
go: ENSG00000183569;
snps: rs3213549 rs926333 rs137055
sequence:

opentargets:
cytoplasmic vesicle [GO:0031410]; perinuclear region of cytoplasm [GO:0048471]; peroxisome [GO:0005777]; hydrolase activity [GO:0016787]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Comment=Experimental confirmation may be lacking for some isoforms.; Name=1; IsoId=Q9H4I8-1; Sequence=Displayed; Name=2; IsoId=Q9H4I8-2; Sequence=VSP_003968, VSP_003969; Name=3; IsoId=Q9H4I8-3; Sequence=VSP_003970; 

location:
SUBCELLULAR LOCATION: Cytoplasm, perinuclear region {ECO:0000250}. Peroxisome {ECO:0000250}. Note=Concentrated in perinuclear vesicles. May be located in peroxisomes. {ECO:0000250}.


uniprotID: Q9NZV5
geneSymbol: SELENON
name: Selenoprotein N (SelN)
length: 590
go: ENSG00000162430;
location: SUBCELLULAR LOCATION: Isoform 2: Endoplasmic reticulum membrane {ECO:0000269|PubMed:12700173}.
sequence:

opentargets:
endoplasmic reticulum membrane [GO:0005789]; calcium ion binding [GO:0005509]; oxidoreductase activity [GO:0016491]; calcium ion homeostasis [GO:0055074]; cellular response to caffeine [GO:0071313]; cellular response to oxidative stress [GO:0034599]; lung alveolus development [GO:0048286]; mitochondrion organization [GO:0007005]; multicellular organismal response to stress [GO:0033555]; positive regulation of response to oxidative stress [GO:1902884]; positive regulation of skeletal muscle cell proliferation [GO:0014858]; regulation of ryanodine-sensitive calcium-release channel activity [GO:0060314]; respiratory system process [GO:0003016]; response to muscle activity involved in regulation of muscle adaptation [GO:0014873]; skeletal muscle fiber development [GO:0048741]; skeletal muscle satellite cell differentiation [GO:0014816]; skeletal muscle satellite cell maintenance involved in skeletal muscle regeneration [GO:0014834]

snps:
rs35019869 rs7349185 rs121908182 rs776738184 rs121908188 rs749911126 rs121908186 rs121908187 rs121908185 rs779162837 rs756927098 rs2294228 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9NZV5-1; Sequence=Displayed; Note=The UGA codons present in position 127 and 462 are either a selenocysteine or a real stop codon.; Name=2; IsoId=Q9NZV5-2; Sequence=VSP_011372; Note=The UGA codon present in position 428 is either a selenocysteine or a real stop codon.; 


uniprotID: P59797
geneSymbol: SELENOV
name: Selenoprotein V (SelV)
length: 346
go: ENSG00000186838;
opentargets: cytosol [GO:0005829]; response to selenium ion [GO:0010269]
snps: rs56149652
sequence:


uniprotID: Q14563
geneSymbol: SEMA3A
reactome: R-HSA-399954;R-HSA-399955;R-HSA-399956;
name: Semaphorin-3A (Semaphorin III) (Sema III)
length: 771
go: ENSG00000075213;
location: SUBCELLULAR LOCATION: Secreted {ECO:0000250}.
sequence:

opentargets:
axon [GO:0030424]; dendrite [GO:0030425]; extracellular region [GO:0005576]; extracellular space [GO:0005615]; integral component of plasma membrane [GO:0005887]; chemorepellent activity [GO:0045499]; neuropilin binding [GO:0038191]; semaphorin receptor binding [GO:0030215]; apoptotic process [GO:0006915]; axon extension involved in axon guidance [GO:0048846]; axon guidance [GO:0007411]; axonal fasciculation [GO:0007413]; axonogenesis involved in innervation [GO:0060385]; basal dendrite arborization [GO:0150020]; branchiomotor neuron axon guidance [GO:0021785]; dichotomous subdivision of terminal units involved in salivary gland branching [GO:0060666]; facial nerve structural organization [GO:0021612]; facioacoustic ganglion development [GO:1903375]; gonadotrophin-releasing hormone neuronal migration to the hypothalamus [GO:0021828]; negative chemotaxis [GO:0050919]; negative regulation of axon extension involved in axon guidance [GO:0048843]; negative regulation of epithelial cell migration [GO:0010633]; negative regulation of neuron projection development [GO:0010977]; nerve development [GO:0021675]; neural crest cell migration [GO:0001755]; neural crest cell migration involved in autonomic nervous system development [GO:1901166]; neural crest cell migration involved in sympathetic nervous system development [GO:1903045]; neuron migration [GO:0001764]; olfactory bulb development [GO:0021772]; positive regulation of cell migration [GO:0030335]; positive regulation of JNK cascade [GO:0046330]; positive regulation of male gonad development [GO:2000020]; positive regulation of neuron migration [GO:2001224]; regulation of axon extension involved in axon guidance [GO:0048841]; regulation of heart rate [GO:0002027]; semaphorin-plexin signaling pathway [GO:0071526]; semaphorin-plexin signaling pathway involved in axon guidance [GO:1902287]; semaphorin-plexin signaling pathway involved in neuron projection guidance [GO:1902285]; sensory system development [GO:0048880]; sympathetic ganglion development [GO:0061549]; sympathetic nervous system development [GO:0048485]; sympathetic neuron projection extension [GO:0097490]; sympathetic neuron projection guidance [GO:0097491]; trigeminal ganglion development [GO:0061551]; trigeminal nerve structural organization [GO:0021637]; ventral trunk neural crest cell migration [GO:0036486]

snps:
rs199979628 rs143007146 rs139295139 rs866354226 rs36026860 rs147436181 rs761486957 rs137871935 rs748219597 rs318240751 rs318240752 rs318240753 


uniprotID: Q9NTN9
geneSymbol: SEMA4G
name: Semaphorin-4G
length: 838
go: ENSG00000095539;
location: SUBCELLULAR LOCATION: Cell membrane; Single-pass type I membrane protein.
sequence:

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

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q9NTN9-1; Sequence=Displayed; Name=2; IsoId=Q9NTN9-2; Sequence=VSP_035067; Note=No experimental confirmation available.; Name=3; IsoId=Q9NTN9-3; Sequence=VSP_035067, VSP_043883; Note=No experimental confirmation available.; 


uniprotID: O95025
geneSymbol: SEMA3D
name: Semaphorin-3D
length: 777
go: ENSG00000153993;
snps: rs7800072
location: SUBCELLULAR LOCATION: Secreted {ECO:0000250}.
sequence:

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


uniprotID: O15041
geneSymbol: SEMA3E
reactome: R-HSA-416700;
name: Semaphorin-3E
length: 775
go: ENSG00000170381;
snps: rs61729612 rs143631464 rs121918341 rs61729610
location: SUBCELLULAR LOCATION: Secreted {ECO:0000250}.
sequence:

opentargets:
extracellular region [GO:0005576]; extracellular space [GO:0005615]; integral component of plasma membrane [GO:0005887]; chemorepellent activity [GO:0045499]; neuropilin binding [GO:0038191]; semaphorin receptor binding [GO:0030215]; branching involved in blood vessel morphogenesis [GO:0001569]; negative chemotaxis [GO:0050919]; negative regulation of angiogenesis [GO:0016525]; negative regulation of axon extension involved in axon guidance [GO:0048843]; negative regulation of cell-matrix adhesion [GO:0001953]; neural crest cell migration [GO:0001755]; positive regulation of cell migration [GO:0030335]; regulation of actin cytoskeleton reorganization [GO:2000249]; regulation of cell shape [GO:0008360]; semaphorin-plexin signaling pathway [GO:0071526]; sprouting angiogenesis [GO:0002040]; synapse organization [GO:0050808]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=O15041-1; Sequence=Displayed; Name=2; IsoId=O15041-2; Sequence=VSP_046237; Note=No experimental confirmation available.; 


uniprotID: Q9NS98
geneSymbol: SEMA3G
name: Semaphorin-3G (Semaphorin sem2)
length: 782
go: ENSG00000010319;
snps: rs35811072 rs2276833 rs34540591
location: SUBCELLULAR LOCATION: Secreted {ECO:0000250}.
sequence:

opentargets:
extracellular exosome [GO:0070062]; extracellular space [GO:0005615]; integral component of plasma membrane [GO:0005887]; chemorepellent activity [GO:0045499]; neuropilin binding [GO:0038191]; semaphorin receptor binding [GO:0030215]; signaling receptor binding [GO:0005102]; negative chemotaxis [GO:0050919]; negative regulation of axon extension [GO:0030517]; negative regulation of axon extension involved in axon guidance [GO:0048843]; neural crest cell migration [GO:0001755]; positive regulation of cell migration [GO:0030335]; semaphorin-plexin signaling pathway [GO:0071526]


uniprotID: Q8IYM1
geneSymbol: SEPT12
name: Septin-12
length: 358
go: ENSG00000140623;
snps: rs199696526 rs371195126 rs6500633
sequence:

opentargets:
cleavage furrow [GO:0032154]; microtubule cytoskeleton [GO:0015630]; midbody [GO:0030496]; nucleus [GO:0005634]; perinuclear region of cytoplasm [GO:0048471]; septin complex [GO:0031105]; septin filament array [GO:0032160]; septin ring [GO:0005940]; sperm annulus [GO:0097227]; spindle [GO:0005819]; stress fiber [GO:0001725]; GDP binding [GO:0019003]; GTP binding [GO:0005525]; GTPase activity [GO:0003924]; identical protein binding [GO:0042802]; phosphatidylinositol binding [GO:0035091]; protein homodimerization activity [GO:0042803]; protein-containing complex scaffold activity [GO:0032947]; cell differentiation [GO:0030154]; cilium assembly [GO:0060271]; flagellated sperm motility [GO:0030317]; mitotic cytokinesis [GO:0000281]; septin ring assembly [GO:0000921]; spermatogenesis [GO:0007283]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q8IYM1-1; Sequence=Displayed; Name=2; IsoId=Q8IYM1-2; Sequence=VSP_029918; 

location:
SUBCELLULAR LOCATION: Cytoplasm. Cytoplasm, cytoskeleton {ECO:0000269|PubMed:18047794}. Cytoplasm, cytoskeleton, spindle {ECO:0000269|PubMed:18047794}. Nucleus {ECO:0000269|PubMed:25775403}. Cell projection, cilium, flagellum {ECO:0000269|PubMed:22275165}. Note=At interphase, forms a filamentous structure in the cytoplasm. During anaphase, translocates to the central spindle region and to the midbody during cytokinesis. Found in the sperm annulus. Colocalized with SPAG4 at the nuclear periphery in round spermatids, at sperm neck in elongated spermatids and at midpiece regions in ejaculated spermatozoa. {ECO:0000269|PubMed:18047794, ECO:0000269|PubMed:20801438, ECO:0000269|PubMed:22275165, ECO:0000269|PubMed:25775403}.


uniprotID: Q6ZU15
geneSymbol: SEPT14
name: Septin-14
length: 432
go: ENSG00000154997;
sequence:

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

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:17922164}. Cytoplasm, cytoskeleton {ECO:0000269|PubMed:17922164}. Note=Colocalizes with actin stress fibers.


uniprotID: Q9HC62
geneSymbol: SENP2
reactome: R-HSA-3065679;
pdb: 1TGZ;1TH0;2IO0;2IO1;2IO2;2IO3;3ZO5;5AEK;
length: 589
go: ENSG00000163904;
snps: rs6762208
name:
Sentrin-specific protease 2 (EC 3.4.22.-) (Axam2) (SMT3-specific isopeptidase 2) (Smt3ip2) (Sentrin/SUMO-specific protease SENP2)

sequence:

opentargets:
cytosol [GO:0005829]; nuclear membrane [GO:0031965]; nuclear pore [GO:0005643]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; PML body [GO:0016605]; protein domain specific binding [GO:0019904]; SUMO-specific endopeptidase activity [GO:0070139]; SUMO-specific isopeptidase activity [GO:0070140]; dorsal/ventral axis specification [GO:0009950]; fat cell differentiation [GO:0045444]; heart development [GO:0007507]; labyrinthine layer development [GO:0060711]; mRNA transport [GO:0051028]; negative regulation of chromatin binding [GO:0035562]; negative regulation of protein binding [GO:0032091]; negative regulation of protein ubiquitination [GO:0031397]; positive regulation of protein phosphorylation [GO:0001934]; positive regulation of protein ubiquitination [GO:0031398]; positive regulation of transcription by RNA polymerase II [GO:0045944]; protein destabilization [GO:0031648]; protein desumoylation [GO:0016926]; protein sumoylation [GO:0016925]; protein transport [GO:0015031]; regulation of DNA endoreduplication [GO:0032875]; regulation of G1/S transition of mitotic cell cycle [GO:2000045]; regulation of Wnt signaling pathway [GO:0030111]; spongiotrophoblast layer development [GO:0060712]; trophoblast giant cell differentiation [GO:0060707]; Wnt signaling pathway [GO:0016055]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9HC62-1; Sequence=Displayed; Name=2; IsoId=Q9HC62-2; Sequence=VSP_056697; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Nucleus, nuclear pore complex {ECO:0000269|PubMed:12192048}. Nucleus membrane {ECO:0000269|PubMed:12192048}; Peripheral membrane protein {ECO:0000269|PubMed:12192048}; Nucleoplasmic side {ECO:0000269|PubMed:12192048}. Cytoplasm {ECO:0000269|PubMed:16738331}. Note=Shuttles between cytoplasm and nucleus. {ECO:0000269|PubMed:16738331}.


uniprotID: Q8WW01
geneSymbol: TSEN15
reactome: R-HSA-6784531;
pdb: 2GW6;
name: tRNA-splicing endonuclease subunit Sen15 (SEN15 homolog) (HsSEN15) (tRNA-intron endonuclease Sen15)
length: 171
go: ENSG00000198860;
snps: rs2274432 rs1046934 rs730882223 rs879253780 rs879253779
sequence:
MEERGDSEPTPGCSGLGPGGVRGFGDGGGAPSWAPEDAWMGTHPKYLEMMELDIGDATQVYVAFLVYLDLMESKSWHEVNCVGLPELQLICLVGTEIEGEGLQTVVPTPITASLSHNRIREILKASRKLQGDPDLPMSFTLAIVESDSTIVYYKLTDGFMLPDPQNISLRR

opentargets:
nucleolus [GO:0005730]; nucleoplasm [GO:0005654]; nucleic acid binding [GO:0003676]; tRNA-intron endonuclease activity [GO:0000213]; mRNA processing [GO:0006397]; tRNA splicing, via endonucleolytic cleavage and ligation [GO:0006388]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q8WW01-1; Sequence=Displayed; Name=2; IsoId=Q8WW01-2; Sequence=VSP_042723; Note=No experimental confirmation available.; 

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


uniprotID: Q8NCE0
geneSymbol: TSEN2
reactome: R-HSA-6784531;
name: tRNA-splicing endonuclease subunit Sen2 (EC 4.6.1.16) (tRNA-intron endonuclease Sen2) (HsSen2)
length: 465
go: ENSG00000154743;
snps: rs12495784 rs33955793 rs113994149
sequence:

opentargets:
centrosome [GO:0005813]; cytosol [GO:0005829]; nucleolus [GO:0005730]; nucleoplasm [GO:0005654]; tRNA-intron endonuclease complex [GO:0000214]; lyase activity [GO:0016829]; nucleic acid binding [GO:0003676]; tRNA-intron endonuclease activity [GO:0000213]; mRNA processing [GO:0006397]; tRNA splicing, via endonucleolytic cleavage and ligation [GO:0006388]; tRNA-type intron splice site recognition and cleavage [GO:0000379]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=5;  Name=1; IsoId=Q8NCE0-1; Sequence=Displayed; Name=2; Synonyms=SEN2deltaEx8, DeltaEx8; IsoId=Q8NCE0-2; Sequence=VSP_010986; Name=3; IsoId=Q8NCE0-3; Sequence=VSP_010985; Note=No experimental confirmation available.; Name=4; IsoId=Q8NCE0-4; Sequence=VSP_046192; Note=No experimental confirmation available.; Name=5; IsoId=Q8NCE0-5; Sequence=VSP_046193, VSP_046194; Note=No experimental confirmation available.; 

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


uniprotID: Q92599
geneSymbol: SEPT8
name: Septin-8
length: 483
go: ENSG00000164402;
sequence:

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

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; Synonyms=KIAA0202b, SEPT8_v2; IsoId=Q92599-1; Sequence=Displayed; Name=2; Synonyms=KIAA0202a, SEPT8_v1, KIAA0202c, SEPT8_v1*; IsoId=Q92599-2; Sequence=VSP_009644; Note=KIAA0202a differs from KIAA0202c at the level of the 3'-UTR.; Name=3; Synonyms=KIAA0202d, SEPT8_v3; IsoId=Q92599-3; Sequence=VSP_009643, VSP_009644; Name=4; IsoId=Q92599-4; Sequence=VSP_054085, VSP_054086; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250}. Cytoplasm, cytoskeleton {ECO:0000250}. Note=In platelets, found in areas surrounding alpha-granules. {ECO:0000269|PubMed:15116257}.


uniprotID: Q9UHD8
geneSymbol: SEPT9
pdb: 4YQF;5CYO;5CYP;
length: 586
go: ENSG00000184640;
snps: rs202079794 rs80338761 rs80338762 rs34587622 rs2627223
name:
Septin-9 (MLL septin-like fusion protein MSF-A) (MLL septin-like fusion protein) (Ovarian/Breast septin) (Ov/Br septin) (Septin D1)

sequence:

opentargets:
actin cytoskeleton [GO:0015629]; axoneme [GO:0005930]; cytoplasm [GO:0005737]; microtubule [GO:0005874]; microtubule cytoskeleton [GO:0015630]; non-motile cilium [GO:0097730]; perinuclear region of cytoplasm [GO:0048471]; septin complex [GO:0031105]; septin filament array [GO:0032160]; septin ring [GO:0005940]; stress fiber [GO:0001725]; cadherin binding [GO:0045296]; GTP binding [GO:0005525]; GTPase activity [GO:0003924]; protein-containing complex scaffold activity [GO:0032947]; cilium assembly [GO:0060271]; mitotic cytokinesis [GO:0000281]; positive regulation of non-motile cilium assembly [GO:1902857]; protein heterooligomerization [GO:0051291]; septin ring assembly [GO:0000921]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=8;  Comment=There are potentially 18 isoforms.; Name=1; Synonyms=Epsilon, MSF-A; IsoId=Q9UHD8-1; Sequence=Displayed; Name=2; Synonyms=Alpha; IsoId=Q9UHD8-2; Sequence=VSP_012337; Name=3; Synonyms=Beta, MSF-B; IsoId=Q9UHD8-3; Sequence=VSP_012336; Name=4; Synonyms=Delta; IsoId=Q9UHD8-4; Sequence=VSP_012335; Name=5; Synonyms=Gamma; IsoId=Q9UHD8-5; Sequence=VSP_012338; Name=7; IsoId=Q9UHD8-7; Sequence=VSP_038317; Note=No experimental confirmation available.; Name=8; IsoId=Q9UHD8-8; Sequence=VSP_038316, VSP_038318; Note=No experimental confirmation available.; Name=9; IsoId=Q9UHD8-9; Sequence=VSP_038315, VSP_038319; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton {ECO:0000269|PubMed:17546647, ECO:0000269|PubMed:17922164}. Note=In an epithelial cell line, concentrates at cell-cell contact areas. After TGF-beta1 treatment and induction of epithelial to mesenchymal transition, colocalizes partly with actin stress fibers. During bacterial infection, displays a collar shape structure next to actin at the pole of invading bacteria.


uniprotID: Q8WYJ6
geneSymbol: SEPT1
name: Septin-1 (LARP) (Peanut-like protein 3) (Serologically defined breast cancer antigen NY-BR-24)
length: 367
snps: rs34518080
sequence:

opentargets:
microtubule cytoskeleton [GO:0015630]; microtubule organizing center [GO:0005815]; midbody [GO:0030496]; septin complex [GO:0031105]; septin filament array [GO:0032160]; septin ring [GO:0005940]; synaptic vesicle [GO:0008021]; GTP binding [GO:0005525]; GTPase activity [GO:0003924]; identical protein binding [GO:0042802]; protein-containing complex scaffold activity [GO:0032947]; cilium assembly [GO:0060271]; mitotic cytokinesis [GO:0000281]; regulation of exocytosis [GO:0017157]; septin ring assembly [GO:0000921]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q8WYJ6-1; Sequence=Displayed; Name=2; IsoId=Q8WYJ6-2; Sequence=VSP_038269, VSP_038270; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250}. Cytoplasm, cytoskeleton {ECO:0000250}. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome. Midbody. Note=Remains at the centrosomes and the nearby microtubules throughout mitosis. Localizes to the midbody during cytokinesis.


uniprotID: Q96SA4
geneSymbol: SERINC2
reactome: R-HSA-977347;
name: Serine incorporator 2 (Tumor differentially expressed protein 2-like)
length: 455
go: ENSG00000168528;
snps: rs34728687
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Multi-pass membrane protein {ECO:0000305}.
sequence:

opentargets:
extracellular exosome [GO:0070062]; integral component of membrane [GO:0016021]; phosphatidylserine metabolic process [GO:0006658]; positive regulation of CDP-diacylglycerol-serine O-phosphatidyltransferase activity [GO:1904219]; positive regulation of serine C-palmitoyltransferase activity [GO:1904222]; sphingolipid metabolic process [GO:0006665]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=Q96SA4-1; Sequence=Displayed; Name=2; IsoId=Q96SA4-2; Sequence=VSP_042464; Name=3; IsoId=Q96SA4-3; Sequence=VSP_042463; Name=4; IsoId=Q96SA4-4; Sequence=VSP_046840; Note=No experimental confirmation available. Gene prediction based on cDNA data.; 


uniprotID: Q9UH03
geneSymbol: SEPT3
pdb: 3SOP;4Z51;4Z54;
name: Neuronal-specific septin-3
length: 358
go: ENSG00000100167;
sequence:

opentargets:
cell junction [GO:0030054]; microtubule cytoskeleton [GO:0015630]; neuron projection [GO:0043005]; presynaptic cytoskeleton [GO:0099569]; septin complex [GO:0031105]; septin filament array [GO:0032160]; septin ring [GO:0005940]; GTP binding [GO:0005525]; GTPase activity [GO:0003924]; identical protein binding [GO:0042802]; protein-containing complex scaffold activity [GO:0032947]; cilium assembly [GO:0060271]; mitotic cytokinesis [GO:0000281]; septin ring assembly [GO:0000921]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; Synonyms=A, SEP3A; IsoId=Q9UH03-1; Sequence=Displayed; Name=2; Synonyms=B, SEP3B; IsoId=Q9UH03-2; Sequence=VSP_006049; Name=3; Synonyms=C, SEP3C; IsoId=Q9UH03-3; Sequence=VSP_025398, VSP_025399; 

location:
SUBCELLULAR LOCATION: Cytoplasm. Cytoplasm, cytoskeleton {ECO:0000250}. Cell junction, synapse {ECO:0000250}.


uniprotID: P50454
geneSymbol: SERPINH1
reactome: R-HSA-1650814;
length: 418
go: ENSG00000149257;
snps: rs7105528 rs137853892
location: SUBCELLULAR LOCATION: Endoplasmic reticulum lumen.
name:
Serpin H1 (47 kDa heat shock protein) (Arsenic-transactivated protein 3) (AsTP3) (Cell proliferation-inducing gene 14 protein) (Collagen-binding protein) (Colligin) (Rheumatoid arthritis-related antigen RA-A47)

sequence:

opentargets:
collagen-containing extracellular matrix [GO:0062023]; endoplasmic reticulum [GO:0005783]; endoplasmic reticulum lumen [GO:0005788]; endoplasmic reticulum-Golgi intermediate compartment [GO:0005793]; extracellular space [GO:0005615]; membrane raft [GO:0045121]; collagen binding [GO:0005518]; RNA binding [GO:0003723]; serine-type endopeptidase inhibitor activity [GO:0004867]; unfolded protein binding [GO:0051082]; chondrocyte development involved in endochondral bone morphogenesis [GO:0003433]; collagen biosynthetic process [GO:0032964]; collagen fibril organization [GO:0030199]; negative regulation of endopeptidase activity [GO:0010951]; protein maturation [GO:0051604]; response to unfolded protein [GO:0006986]


uniprotID: O75920
geneSymbol: SERF1A; SERF1B
name: Small EDRK-rich factor 1 (Protein 4F5) (h4F5) (SMA modifier 1)
length: 110
go: ENSG00000172058;ENSG00000205572;
opentargets: nervous system development [GO:0007399]
sequence:
MARGNQRELARQKNMKKTQEISKGKRKEDSLTASQRKQSSGGQKSESKMSAGPHLPLKAPRENPCFPLPAAGGSRYYLAYGSITPISAFVFVVFFSVFFPSFYEDFCCWI

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=Long; IsoId=O75920-1; Sequence=Displayed; Name=Short; IsoId=O75920-2; Sequence=VSP_006057; 


uniprotID: Q9Y6P5
geneSymbol: SESN1
reactome: R-HSA-5628897;
name: Sestrin-1 (EC 1.11.1.15) (p53-regulated protein PA26)
length: 492
go: ENSG00000080546;
snps: rs2273668
sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; fibrillar center [GO:0001650]; nucleus [GO:0005634]; leucine binding [GO:0070728]; oxidoreductase activity, acting on peroxide as acceptor [GO:0016684]; peroxiredoxin activity [GO:0051920]; cellular oxidant detoxification [GO:0098869]; cellular response to amino acid starvation [GO:0034198]; cellular response to amino acid stimulus [GO:0071230]; cellular response to glucose starvation [GO:0042149]; cellular response to leucine [GO:0071233]; cellular response to leucine starvation [GO:1990253]; negative regulation of TORC1 signaling [GO:1904262]; positive regulation of macroautophagy [GO:0016239]; reactive oxygen species metabolic process [GO:0072593]; regulation of response to reactive oxygen species [GO:1901031]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=T2; IsoId=Q9Y6P5-1; Sequence=Displayed; Name=T1; IsoId=Q9Y6P5-2; Sequence=VSP_006059; Name=T3; IsoId=Q9Y6P5-3; Sequence=VSP_006060; 

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:9926927}. Cytoplasm {ECO:0000269|PubMed:15105503}.


uniprotID: Q8N6R1
geneSymbol: SERP2
name: Stress-associated endoplasmic reticulum protein 2 (Ribosome-associated membrane protein RAMP4-2)
sequence: MVAKQRIRMANEKHSKNITQRGNVAKTLRPQEEKYPVGPWLLALFVFVVCGSAIFQIIQSIRMGM
length: 65
go: ENSG00000151778;
opentargets:
endoplasmic reticulum membrane [GO:0005789]; integral component of membrane [GO:0016021]; endoplasmic reticulum unfolded protein response [GO:0030968]; protein glycosylation [GO:0006486]; protein transport [GO:0015031]

location:
SUBCELLULAR LOCATION: Membrane; Single-pass type IV membrane protein. Endoplasmic reticulum membrane {ECO:0000305}; Single-pass membrane protein {ECO:0000305}; Cytoplasmic side {ECO:0000305}.


uniprotID: Q15047
geneSymbol: SETDB1
reactome: R-HSA-3214841;
pdb: 3DLM;4X3S;5KCH;5KCO;5KE2;5KE3;5KH6;6AU2;6AU3;6BHD;6BHE;6BHG;6BHH;6BHI;6BPI;
length: 1291
go: ENSG00000143379;
snps: rs2271075 rs17852587 rs2691551 rs2814054
name:
Histone-lysine N-methyltransferase SETDB1 (EC 2.1.1.43) (ERG-associated protein with SET domain) (ESET) (Histone H3-K9 methyltransferase 4) (H3-K9-HMTase 4) (Lysine N-methyltransferase 1E) (SET domain bifurcated 1)

sequence:

opentargets:
chromosome [GO:0005694]; cytosol [GO:0005829]; intracellular membrane-bounded organelle [GO:0043231]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; plasma membrane [GO:0005886]; chromatin binding [GO:0003682]; DNA binding [GO:0003677]; histone-lysine N-methyltransferase activity [GO:0018024]; promoter-specific chromatin binding [GO:1990841]; zinc ion binding [GO:0008270]; positive regulation of methylation-dependent chromatin silencing [GO:0090309]; Ras protein signal transduction [GO:0007265]; response to ethanol [GO:0045471]; response to vitamin [GO:0033273]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q15047-1; Sequence=Displayed; Name=2; IsoId=Q15047-2; Sequence=VSP_002217, VSP_002218; Note=No experimental confirmation available.; Name=3; IsoId=Q15047-3; Sequence=VSP_034600; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Nucleus. Chromosome. Note=Associated with non-pericentromeric regions of chromatin. Excluded from nucleoli and islands of condensed chromatin.


uniprotID: Q9C0A6
geneSymbol: SETD5
name: SET domain-containing protein 5
length: 1442
go: ENSG00000168137;
snps: rs41387348 rs11720526 rs587777325 rs864321657 rs587777327 rs13327456 rs11542009
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000250|UniProtKB:Q5XJV7}.
sequence:

opentargets:
Cdc73/Paf1 complex [GO:0016593]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; covalent chromatin modification [GO:0016569]; regulation of chromatin organization [GO:1902275]; regulation of histone acetylation [GO:0035065]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q9C0A6-1; Sequence=Displayed; Name=2; IsoId=Q9C0A6-2; Sequence=VSP_024094; Note=No experimental confirmation available.; Name=3; IsoId=Q9C0A6-3; Sequence=VSP_024094, VSP_024095; Note=No experimental confirmation available.; 


uniprotID: Q8TBK2
geneSymbol: SETD6
reactome: R-HSA-3214841;
pdb: 3QXY;3RC0;
name: N-lysine methyltransferase SETD6 (EC 2.1.1.-) (SET domain-containing protein 6)
length: 473
go: ENSG00000103037;
snps: rs17852020 rs17852021 rs11865588 rs34965375 rs36085499
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:21131967}.
sequence:

opentargets:
cytosol [GO:0005829]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; NF-kappaB binding [GO:0051059]; protein-lysine N-methyltransferase activity [GO:0016279]; histone lysine methylation [GO:0034968]; negative regulation of NF-kappaB transcription factor activity [GO:0032088]; peptidyl-lysine monomethylation [GO:0018026]; regulation of inflammatory response [GO:0050727]; stem cell differentiation [GO:0048863]; stem cell population maintenance [GO:0019827]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q8TBK2-1; Sequence=Displayed; Name=2; IsoId=Q8TBK2-2; Sequence=VSP_024093; Note=No experimental confirmation available.; 


uniprotID: Q15459
geneSymbol: SF3A1
reactome: R-HSA-72163;
pdb: 1ZKH;2DT6;2DT7;5Z56;5Z57;5Z58;
name: Splicing factor 3A subunit 1 (SF3a120) (Spliceosome-associated protein 114) (SAP 114)
length: 793
go: ENSG00000099995;
snps: rs765594577
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000250}.
sequence:

opentargets:
catalytic step 2 spliceosome [GO:0071013]; nuclear speck [GO:0016607]; nucleoplasm [GO:0005654]; spliceosomal complex [GO:0005681]; U2 snRNP [GO:0005686]; U2-type prespliceosome [GO:0071004]; U2-type spliceosomal complex [GO:0005684]; RNA binding [GO:0003723]; mRNA 3'-splice site recognition [GO:0000389]; mRNA processing [GO:0006397]; mRNA splicing, via spliceosome [GO:0000398]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q15459-1; Sequence=Displayed; Name=2; IsoId=Q15459-2; Sequence=VSP_054090; Note=No experimental confirmation available. Gene prediction based on EST data.; 


uniprotID: Q15428
geneSymbol: SF3A2
reactome: R-HSA-72163;
pdb: 5Z56;5Z57;5Z58;6FF4;
name: Splicing factor 3A subunit 2 (SF3a66) (Spliceosome-associated protein 62) (SAP 62)
length: 464
go: ENSG00000104897;
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000255|PROSITE-ProRule:PRU00130}.
sequence:

opentargets:
catalytic step 2 spliceosome [GO:0071013]; nuclear speck [GO:0016607]; nucleoplasm [GO:0005654]; small nuclear ribonucleoprotein complex [GO:0030532]; spliceosomal complex [GO:0005681]; U2 snRNP [GO:0005686]; U2-type prespliceosome [GO:0071004]; RNA binding [GO:0003723]; zinc ion binding [GO:0008270]; mRNA 3'-splice site recognition [GO:0000389]; mRNA processing [GO:0006397]; mRNA splicing, via spliceosome [GO:0000398]; positive regulation of neuron projection development [GO:0010976]; RNA splicing [GO:0008380]; spliceosomal complex assembly [GO:0000245]


uniprotID: Q12874
geneSymbol: SF3A3
reactome: R-HSA-72163;
pdb: 2DT7;5Z56;5Z57;5Z58;
name: Splicing factor 3A subunit 3 (SF3a60) (Spliceosome-associated protein 61) (SAP 61)
length: 501
go: ENSG00000183431;
location: SUBCELLULAR LOCATION: Nucleus speckle.
sequence:

opentargets:
catalytic step 2 spliceosome [GO:0071013]; nuclear speck [GO:0016607]; nucleoplasm [GO:0005654]; spliceosomal complex [GO:0005681]; RNA binding [GO:0003723]; zinc ion binding [GO:0008270]; mRNA 3'-splice site recognition [GO:0000389]; mRNA processing [GO:0006397]; mRNA splicing, via spliceosome [GO:0000398]; RNA splicing [GO:0008380]; RNA splicing, via transesterification reactions [GO:0000375]


uniprotID: Q6ZMZ3
geneSymbol: SYNE3
name: Nesprin-3 (KASH domain-containing protein 3) (KASH3) (Nuclear envelope spectrin repeat protein 3)
length: 975
go: ENSG00000176438;
snps: rs9671369 rs76499929 rs17092216 rs12434757 rs10130647
sequence:

opentargets:
cytoplasm [GO:0005737]; integral component of membrane [GO:0016021]; meiotic nuclear membrane microtubule tethering complex [GO:0034993]; membrane [GO:0016020]; nuclear envelope [GO:0005635]; nuclear membrane [GO:0031965]; nuclear outer membrane [GO:0005640]; rough endoplasmic reticulum [GO:0005791]; actin filament binding [GO:0051015]; cytoskeletal anchoring at nuclear membrane [GO:0090286]; cytoskeleton organization [GO:0007010]; establishment of protein localization to membrane [GO:0090150]; nuclear migration [GO:0007097]; nucleus localization [GO:0051647]; regulation of cell shape [GO:0008360]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; Synonyms=Alpha; IsoId=Q6ZMZ3-1; Sequence=Displayed; Name=2; IsoId=Q6ZMZ3-2; Sequence=VSP_023978; Note=No experimental confirmation available.; Name=3; IsoId=Q6ZMZ3-3; Sequence=VSP_023976, VSP_023977; 

location:
SUBCELLULAR LOCATION: Nucleus outer membrane {ECO:0000269|PubMed:21937718}; Single-pass type IV membrane protein {ECO:0000269|PubMed:21937718}. Nucleus envelope {ECO:0000269|PubMed:21937718}. Rough endoplasmic reticulum {ECO:0000250}.


uniprotID: Q9H7V2
geneSymbol: SYNDIG1
length: 258
go: ENSG00000101463;
snps: rs6083553
name:
Synapse differentiation-inducing gene protein 1 (SynDIG1) (Dispanin subfamily C member 2) (DSPC2) (Transmembrane protein 90B)

sequence:

opentargets:
cell body [GO:0044297]; cell junction [GO:0030054]; dendritic shaft [GO:0043198]; dendritic spine [GO:0043197]; early endosome membrane [GO:0031901]; excitatory synapse [GO:0060076]; integral component of plasma membrane [GO:0005887]; intracellular membrane-bounded organelle [GO:0043231]; postsynaptic density [GO:0014069]; postsynaptic membrane [GO:0045211]; presynapse [GO:0098793]; glutamate receptor binding [GO:0035254]; protein homodimerization activity [GO:0042803]; intracellular protein transport [GO:0006886]; positive regulation of synapse assembly [GO:0051965]; synaptic vesicle clustering [GO:0097091]

location:
SUBCELLULAR LOCATION: Cell membrane; Single-pass type II membrane protein. Early endosome membrane {ECO:0000250}; Single-pass type II membrane protein {ECO:0000250}. Cell junction, synapse, postsynaptic cell membrane, postsynaptic density {ECO:0000250}. Cell junction, synapse {ECO:0000250}. Cell projection, dendrite {ECO:0000250}. Cell projection, dendritic spine {ECO:0000250}. Note=Shuttles between the cell surface and early endosome membrane. {ECO:0000250}.


uniprotID: Q15427
geneSymbol: SF3B4
reactome: R-HSA-72163;R-HSA-72165;
pdb: 1X5T;5GVQ;5Z56;5Z57;5Z58;
length: 424
go: ENSG00000143368;
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:27720643, ECO:0000269|PubMed:28541300}.
name:
Splicing factor 3B subunit 4 (Pre-mRNA-splicing factor SF3b 49 kDa subunit) (Spliceosome-associated protein 49) (SAP 49)

sequence:

opentargets:
nucleolus [GO:0005730]; nucleoplasm [GO:0005654]; ribonucleoprotein complex [GO:1990904]; spliceosomal complex [GO:0005681]; U12-type spliceosomal complex [GO:0005689]; RNA binding [GO:0003723]; mRNA processing [GO:0006397]; mRNA splicing, via spliceosome [GO:0000398]; positive regulation of mRNA splicing, via spliceosome [GO:0048026]; RNA splicing [GO:0008380]; RNA splicing, via transesterification reactions [GO:0000375]


uniprotID: Q9BWJ5
geneSymbol: SF3B5
reactome: R-HSA-72163;R-HSA-72165;
pdb: 5IFE;5O9Z;5Z56;5Z57;5Z58;5ZYA;6EN4;6FF4;
name: Splicing factor 3B subunit 5 (SF3b5) (Pre-mRNA-splicing factor SF3b 10 kDa subunit)
sequence: MTDRYTIHSQLEHLQSKYIGTGHADTTKWEWLVNQHRDSYCSYMGHFDLLNYFAIAENESKARVRFNLMEKMLQPCGPPADKPEEN
length: 86
go: ENSG00000169976;
opentargets:
nucleoplasm [GO:0005654]; nucleus [GO:0005634]; U12-type spliceosomal complex [GO:0005689]; U2 snRNP [GO:0005686]; U2-type precatalytic spliceosome [GO:0071005]; RNA binding [GO:0003723]; mRNA splicing, via spliceosome [GO:0000398]

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:27720643, ECO:0000269|PubMed:28541300, ECO:0000269|PubMed:28781166}.


uniprotID: Q96I59
geneSymbol: NARS2
reactome: R-HSA-379726;
name: Probable asparagine--tRNA ligase, mitochondrial (EC 6.1.1.22) (Asparaginyl-tRNA synthetase) (AsnRS)
length: 477
go: ENSG00000137513;
drug: DB00174;
snps: rs10501429 rs730882155
sequence:

opentargets:
cytosol [GO:0005829]; mitochondrial matrix [GO:0005759]; mitochondrion [GO:0005739]; nucleoplasm [GO:0005654]; asparagine-tRNA ligase activity [GO:0004816]; ATP binding [GO:0005524]; nucleic acid binding [GO:0003676]; asparaginyl-tRNA aminoacylation [GO:0006421]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q96I59-1; Sequence=Displayed; Name=2; IsoId=Q96I59-2; Sequence=VSP_054120; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Mitochondrion matrix {ECO:0000250}. Mitochondrion {ECO:0000269|PubMed:25807530}.


uniprotID: Q12872
geneSymbol: SFSWAP
pdb: 2E5Z;2E60;
length: 951
go: ENSG00000061936;
snps: rs1051207 rs1051314 rs1131564 rs1982528 rs34541796 rs34744641 rs34729193
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000305}.
name:
Splicing factor, suppressor of white-apricot homolog (Splicing factor, arginine/serine-rich 8) (Suppressor of white apricot protein homolog)

sequence:

opentargets:
nucleus [GO:0005634]; RNA binding [GO:0003723]; alternative mRNA splicing, via spliceosome [GO:0000380]; mRNA 5'-splice site recognition [GO:0000395]; negative regulation of mRNA splicing, via spliceosome [GO:0048025]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q12872-1; Sequence=Displayed; Name=2; IsoId=Q12872-2; Sequence=VSP_044786; Note=No experimental confirmation available.; 


uniprotID: Q96PL1
geneSymbol: SCGB3A2
reactome: R-HSA-3000480;
sequence: MKLVTIFLLVTISLCSYSATAFLINKVPLPVDKLAPLPLDNILPFMDPLKLLLKTLGISVEHLVEGLRKCVNELGPEASEAVKKLLEALSHLV
length: 93
go: ENSG00000164265;
location: SUBCELLULAR LOCATION: Secreted {ECO:0000269|PubMed:12847263}.
name:
Secretoglobin family 3A member 2 (Pneumo secretory protein 1) (PnSP-1) (Uteroglobin-related protein 1)

opentargets:
endocytic vesicle lumen [GO:0071682]; extracellular region [GO:0005576]; extracellular space [GO:0005615]; receptor-mediated endocytosis [GO:0006898]


uniprotID: Q9H9B4
geneSymbol: SFXN1
name: Sideroflexin-1 (Tricarboxylate carrier protein) (TCC)
length: 322
go: ENSG00000164466;
snps: rs17065105 rs34907038
sequence:

opentargets:
integral component of membrane [GO:0016021]; mitochondrial membrane [GO:0031966]; mitochondrion [GO:0005739]; ion transmembrane transporter activity [GO:0015075]; erythrocyte differentiation [GO:0030218]; iron ion homeostasis [GO:0055072]; iron ion transport [GO:0006826]

location:
SUBCELLULAR LOCATION: Mitochondrion membrane {ECO:0000250}; Multi-pass membrane protein {ECO:0000250}.


uniprotID: Q13326
geneSymbol: SGCG
name: Gamma-sarcoglycan (Gamma-SG) (35 kDa dystrophin-associated glycoprotein) (35DAG)
length: 291
go: ENSG00000102683;
snps: rs17314986 rs104894422 rs1800354
sequence:

opentargets:
cytoplasm [GO:0005737]; cytoskeleton [GO:0005856]; integral component of membrane [GO:0016021]; nucleoplasm [GO:0005654]; plasma membrane [GO:0005886]; sarcoglycan complex [GO:0016012]; sarcolemma [GO:0042383]; heart contraction [GO:0060047]; muscle organ development [GO:0007517]

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


uniprotID: Q96NB2
geneSymbol: SFXN2
name: Sideroflexin-2
length: 322
go: ENSG00000156398;
sequence:

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

location:
SUBCELLULAR LOCATION: Mitochondrion membrane {ECO:0000250}; Multi-pass membrane protein {ECO:0000250}.


uniprotID: Q96ES7
geneSymbol: SGF29
reactome: R-HSA-3214847;
pdb: 3LX7;3ME9;3MEA;3MET;3MEU;3MEV;3MEW;5C0M;
length: 293
go: ENSG00000176476;
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000250|UniProtKB:P0C606}.
name:
SAGA-associated factor 29 (Coiled-coil domain-containing protein 101) (SAGA complex-associated factor 29)

sequence:

opentargets:
Ada2/Gcn5/Ada3 transcription activator complex [GO:0005671]; SAGA complex [GO:0000124]; SAGA-type complex [GO:0070461]; enzyme binding [GO:0019899]; methylated histone binding [GO:0035064]; protein N-terminus binding [GO:0047485]; RNA polymerase II transcription regulator recruiting activity [GO:0001135]; establishment of protein localization to chromatin [GO:0071169]; histone acetylation [GO:0016573]; histone H3 acetylation [GO:0043966]


uniprotID: Q9Y566
geneSymbol: SHANK1
reactome: R-HSA-6794361;
pdb: 6CPI;
length: 2161
go: ENSG00000161681;
snps: rs10423744 rs3745521 rs200040610
name:
SH3 and multiple ankyrin repeat domains protein 1 (Shank1) (Somatostatin receptor-interacting protein) (SSTR-interacting protein) (SSTRIP)

sequence:

opentargets:
cell junction [GO:0030054]; cytosol [GO:0005829]; dendrite [GO:0030425]; dendritic spine [GO:0043197]; excitatory synapse [GO:0060076]; glutamatergic synapse [GO:0098978]; intracellular [GO:0005622]; membrane [GO:0016020]; neuron projection [GO:0043005]; neuron spine [GO:0044309]; NMDA selective glutamate receptor complex [GO:0017146]; plasma membrane [GO:0005886]; postsynaptic density [GO:0014069]; postsynaptic membrane [GO:0045211]; Schaffer collateral - CA1 synapse [GO:0098685]; ankyrin repeat binding [GO:0071532]; GKAP/Homer scaffold activity [GO:0030160]; identical protein binding [GO:0042802]; ionotropic glutamate receptor binding [GO:0035255]; protein C-terminus binding [GO:0008022]; protein-containing complex binding [GO:0044877]; receptor signaling complex scaffold activity [GO:0030159]; scaffold protein binding [GO:0097110]; SH3 domain binding [GO:0017124]; somatostatin receptor binding [GO:0031877]; adult behavior [GO:0030534]; associative learning [GO:0008306]; brain morphogenesis [GO:0048854]; cytoskeletal anchoring at plasma membrane [GO:0007016]; dendritic spine morphogenesis [GO:0060997]; determination of affect [GO:0050894]; habituation [GO:0046959]; long-term memory [GO:0007616]; long-term synaptic potentiation [GO:0060291]; negative regulation of actin filament bundle assembly [GO:0032232]; neuromuscular process controlling balance [GO:0050885]; olfactory behavior [GO:0042048]; positive regulation of dendritic spine development [GO:0060999]; positive regulation of excitatory postsynaptic potential [GO:2000463]; positive regulation of synaptic transmission, glutamatergic [GO:0051968]; postsynaptic density assembly [GO:0097107]; protein localization to synapse [GO:0035418]; protein-containing complex assembly [GO:0065003]; regulation of AMPA receptor activity [GO:2000311]; righting reflex [GO:0060013]; social behavior [GO:0035176]; synapse assembly [GO:0007416]; synapse maturation [GO:0060074]; synaptic growth at neuromuscular junction [GO:0051124]; vocalization behavior [GO:0071625]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; Synonyms=A; IsoId=Q9Y566-1; Sequence=Displayed; Name=2; Synonyms=B; IsoId=Q9Y566-2; Sequence=VSP_006069, VSP_006070; Name=3; IsoId=Q9Y566-3; Sequence=VSP_006071; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250}. Cell junction, synapse, postsynaptic cell membrane, postsynaptic density {ECO:0000250}. Cell junction, synapse {ECO:0000250}. Note=Colocalizes with alpha-latrotoxin receptor 1. {ECO:0000250}.


uniprotID: O14796
geneSymbol: SH2D1B
reactome: R-HSA-198933;
pdb: 5KAZ;
name: SH2 domain-containing protein 1B (EWS/FLI1-activated transcript 2) (EAT-2)
length: 132
go: ENSG00000198574;
snps: rs35688243 rs34001279
sequence:
MDLPYYHGRLTKQDCETLLLKEGVDGNFLLRDSESIPGVLCLCVSFKNIVYTYRIFREKHGYYRIQTAEGSPKQVFPSLKELISKFEKPNQGMVVHLLKPIKRTSPSLRWRGLKLELETFVNSNSDYVDVLP

opentargets:
cytosol [GO:0005829]; intracellular [GO:0005622]; protein binding, bridging [GO:0030674]; adaptive immune response [GO:0002250]; innate immune response [GO:0045087]; leukocyte activation involved in immune response [GO:0002366]; positive regulation of innate immune response [GO:0045089]; positive regulation of natural killer cell mediated immunity [GO:0002717]; regulation of immune response [GO:0050776]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=O14796-1; Sequence=Displayed; Name=2; IsoId=O14796-2; Sequence=VSP_010341; 


uniprotID: Q8N114
geneSymbol: SHISA5
reactome: R-HSA-381426;R-HSA-8957275;
name: Protein shisa-5 (Putative NF-kappa-B-activating protein 120) (Scotin)
length: 240
go: ENSG00000164054;
snps: rs35750010
sequence:

opentargets:
endoplasmic reticulum [GO:0005783]; endoplasmic reticulum lumen [GO:0005788]; endoplasmic reticulum membrane [GO:0005789]; integral component of membrane [GO:0016021]; nuclear membrane [GO:0031965]; WW domain binding [GO:0050699]; cellular protein metabolic process [GO:0044267]; intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator [GO:0042771]; positive regulation of I-kappaB kinase/NF-kappaB signaling [GO:0043123]; post-translational protein modification [GO:0043687]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=5;  Name=1; IsoId=Q8N114-1; Sequence=Displayed; Name=2; IsoId=Q8N114-2; Sequence=VSP_029954; Name=3; IsoId=Q8N114-3; Sequence=VSP_029953, VSP_029955; Name=4; IsoId=Q8N114-4; Sequence=VSP_029953, VSP_029955, VSP_029956; Name=5; IsoId=Q8N114-5; Sequence=VSP_055712; Note=Gene prediction based on EST data.; 

location:
SUBCELLULAR LOCATION: Endoplasmic reticulum membrane {ECO:0000269|PubMed:12135983}; Single-pass type I membrane protein {ECO:0000269|PubMed:12135983}. Nucleus membrane {ECO:0000269|PubMed:12135983}.


uniprotID: Q5HYK7
geneSymbol: SH3D19
reactome: R-HSA-432722;
name: SH3 domain-containing protein 19 (ADAM-binding protein Eve-1) (EEN-binding protein) (EBP)
length: 790
go: ENSG00000109686;
sequence:

opentargets:
cytosol [GO:0005829]; nucleoplasm [GO:0005654]; plasma membrane [GO:0005886]; proline-rich region binding [GO:0070064]; cytoskeleton organization [GO:0007010]; positive regulation of membrane protein ectodomain proteolysis [GO:0051044]; regulation of cell morphogenesis [GO:0022604]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=5;  Name=1; Synonyms=Eve-1a; IsoId=Q5HYK7-1; Sequence=Displayed; Name=2; Synonyms=Eve-1b; IsoId=Q5HYK7-2; Sequence=VSP_031184; Name=3; IsoId=Q5HYK7-3; Sequence=VSP_031183, VSP_031184; Name=4; Synonyms=Eve-1c; IsoId=Q5HYK7-4; Sequence=VSP_031182; Name=5; Synonyms=Eve-1d; IsoId=Q5HYK7-5; Sequence=VSP_031182, VSP_031184; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:14551139}. Nucleus {ECO:0000269|PubMed:14551139}. Note=Is recruited to the nucleus by the KMT2A/MLL1-EEN fusion protein.


uniprotID: A4FU49
geneSymbol: SH3D21
name: SH3 domain-containing protein 21
length: 640
go: ENSG00000214193;
opentargets: nucleoplasm [GO:0005654]; nucleus [GO:0005634]; plasma membrane [GO:0005886]
snps: rs12121759 rs12121759
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=5;  Name=1; IsoId=A4FU49-1; Sequence=Displayed; Note=No experimental confirmation available. Gene prediction based on EST data and similarity to mouse and macaca fascicularis orthologs.; Name=2; IsoId=A4FU49-3; Sequence=VSP_040924; Note=No experimental confirmation available.; Name=3; IsoId=A4FU49-4; Sequence=VSP_040923, VSP_040925, VSP_040926; 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=A4FU49-5; Sequence=VSP_040927, VSP_040928; 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=5; IsoId=A4FU49-6; Sequence=VSP_045936; 


uniprotID: B4DS77
geneSymbol: SHISA9
name: Protein shisa-9
length: 424
go: ENSG00000237515;
sequence:

opentargets:
AMPA glutamate receptor complex [GO:0032281]; cell junction [GO:0030054]; dendritic spine membrane [GO:0032591]; glutamatergic synapse [GO:0098978]; integral component of postsynaptic density membrane [GO:0099061]; ionotropic glutamate receptor complex [GO:0008328]; postsynaptic density [GO:0014069]; postsynaptic membrane [GO:0045211]; synapse [GO:0045202]; PDZ domain binding [GO:0030165]; regulation of AMPA receptor activity [GO:2000311]; regulation of postsynaptic neurotransmitter receptor activity [GO:0098962]; regulation of short-term neuronal synaptic plasticity [GO:0048172]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=B4DS77-1; Sequence=Displayed; Note=No experimental confirmation available.; Name=2; IsoId=B4DS77-2; Sequence=VSP_038817; Note=No experimental confirmation available.; Name=3; IsoId=B4DS77-3; Sequence=VSP_038818, VSP_038819; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cell projection, dendritic spine membrane {ECO:0000250}; Single-pass type I membrane protein {ECO:0000250}. Cell junction, synapse {ECO:0000250}.


uniprotID: Q6UWV7
geneSymbol: SHISAL2A
name: Protein shisa-like-2A
length: 190
go: ENSG00000182183;
opentargets: integral component of membrane [GO:0016021]
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Multi-pass membrane protein {ECO:0000305}.
sequence:
MSGACTSYVSAEQEVVRGFSCPRPGGEAAAVFCCGFRDHKYCCDDPHSFFPYEHSYMWWLSIGALIGLSVAAVVLLAFIVTACVLCYLFISSKPHTKLDLGLSLQTAGPEEVSPDCQGVNTGMAAEVPKVSPLQQSYSCLNPQLESNEGQAVNSKRLLHHCFMATVTTSDIPGSPEEASVPNPDLCGPVP

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q6UWV7-1; Sequence=Displayed; Name=2; IsoId=Q6UWV7-2; Sequence=VSP_031139; Note=May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.; 


uniprotID: Q9BVH7
geneSymbol: ST6GALNAC5
reactome: R-HSA-4085001;
length: 336
go: ENSG00000117069;
name:
Alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase 5 (EC 2.4.99.-) (GD1 alpha synthase) (GalNAc alpha-2,6-sialyltransferase V) (ST6GalNAc V) (ST6GalNAcV) (Sialyltransferase 7E) (SIAT7-E)

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]; glycosphingolipid biosynthetic process [GO:0006688]; oligosaccharide biosynthetic process [GO:0009312]; protein glycosylation [GO:0006486]


uniprotID: O15389
geneSymbol: SIGLEC5
reactome: R-HSA-198933;R-HSA-6798695;
pdb: 2ZG1;2ZG2;2ZG3;
length: 551
go: ENSG00000105501;ENSG00000268500;
snps: rs1973019 rs1807124 rs2278831 rs8108074 rs3829655
location: SUBCELLULAR LOCATION: Membrane; Single-pass type I membrane protein.
name:
Sialic acid-binding Ig-like lectin 5 (Siglec-5) (CD33 antigen-like 2) (Obesity-binding protein 2) (OB-BP2) (OB-binding protein 2) (CD antigen CD170)

sequence:

opentargets:
ficolin-1-rich granule membrane [GO:0101003]; integral component of membrane [GO:0016021]; plasma membrane [GO:0005886]; secretory granule membrane [GO:0030667]; tertiary granule membrane [GO:0070821]; carbohydrate binding [GO:0030246]; cell adhesion [GO:0007155]; neutrophil degranulation [GO:0043312]


uniprotID: Q9Y2K2
geneSymbol: SIK3
length: 1321
go: ENSG00000160584;
snps: rs11216163 rs12225230
name:
Serine/threonine-protein kinase SIK3 (EC 2.7.11.1) (Salt-inducible kinase 3) (SIK-3) (Serine/threonine-protein kinase QSK)

sequence:

opentargets:
cytoplasm [GO:0005737]; ATP binding [GO:0005524]; magnesium ion binding [GO:0000287]; protein serine/threonine kinase activity [GO:0004674]; tau-protein kinase activity [GO:0050321]; intracellular signal transduction [GO:0035556]; microtubule cytoskeleton organization [GO:0000226]; protein phosphorylation [GO:0006468]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=Q9Y2K2-5; Sequence=Displayed; Name=2; IsoId=Q9Y2K2-6; Sequence=VSP_059412, VSP_059415; Note=No experimental confirmation available. {ECO:0000244|PubMed:19690332}; Name=3; IsoId=Q9Y2K2-7; Sequence=VSP_059416, VSP_059417; Note=No experimental confirmation available.; Name=4; IsoId=Q9Y2K2-8; Sequence=VSP_059413, VSP_059414, VSP_059415; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:16306228}. Note=Locates to punctate structures within the cytoplasm on binding to YWHAZ.


uniprotID: Q9BRV8
geneSymbol: SIKE1
reactome: R-HSA-918233;R-HSA-933541;
name: Suppressor of IKBKE 1 (Suppressor of IKK-epsilon)
length: 207
go: ENSG00000052723;
opentargets: cytosol [GO:0005829]; protein kinase binding [GO:0019901]; Rho GTPase binding [GO:0017048]
location: SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:16281057}.
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9BRV8-1; Sequence=Displayed; Name=2; IsoId=Q9BRV8-2; Sequence=VSP_027543; Note=No experimental confirmation available.; 


uniprotID: P81133
geneSymbol: SIM1
name: Single-minded homolog 1 (Class E basic helix-loop-helix protein 14) (bHLHe14)
length: 766
go: ENSG00000112246;
snps: rs438766 rs3734354 rs3734355
sequence:

opentargets:
nucleus [GO:0005634]; DNA binding [GO:0003677]; DNA-binding transcription factor activity [GO:0003700]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; protein heterodimerization activity [GO:0046982]; cell differentiation [GO:0030154]; nervous system development [GO:0007399]; regulation of transcription by RNA polymerase II [GO:0006357]; ureteric bud development [GO:0001657]

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000255|PROSITE-ProRule:PRU00632, ECO:0000255|PROSITE-ProRule:PRU00981}.


uniprotID: K7EJ46
geneSymbol: SMIM22
name: Small integral membrane protein 22
length: 135
go: ENSG00000267795;
opentargets: integral component of membrane [GO:0016021]
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Single-pass membrane protein {ECO:0000305}.
sequence:
MAVSTEELEATVQEVLGRLKSHQFFQSTWDTVAFIVFLTFMGTVLLLLLLVVAHCCCCSSPGPRRESPRKVSPWKVSPAGLWDLHGTVLGVEAEGEGSGGKGAHPPREQRANLLGPAVLLVQERPKGVDNLALEP

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=K7EJ46-1; Sequence=Displayed; Name=2; IsoId=K7EJ46-2; Sequence=VSP_053432; Name=3; IsoId=K7EJ46-3; Sequence=VSP_053431; 


uniprotID: O15304
geneSymbol: SIVA1
name: Apoptosis regulatory protein Siva (CD27-binding protein) (CD27BP)
length: 175
go: ENSG00000184990;
sequence:
MPKRSCPFADVAPLQLKVRVSQRELSRGVCAERYSQEVFEKTKRLLFLGAQAYLDHVWDEGCAVVHLPESPKPGPTGAPRAARGQMLIGPDGRLIRSLGQASEADPSGVASIACSSCVRAVDGKAVCGQCERALCGQCVRTCWGCGSVACTLCGLVDCSDMYEKVLCTSCAMFET

opentargets:
cytoplasm [GO:0005737]; intracellular [GO:0005622]; mitochondrion [GO:0005739]; nucleoplasm [GO:0005654]; CD27 receptor binding [GO:0005175]; metal ion binding [GO:0046872]; tumor necrosis factor receptor binding [GO:0005164]; virus receptor activity [GO:0001618]; zinc ion binding [GO:0008270]; activation-induced cell death of T cells [GO:0006924]; extrinsic apoptotic signaling pathway [GO:0097191]; intrinsic apoptotic signaling pathway [GO:0097193]; negative regulation of NF-kappaB transcription factor activity [GO:0032088]; positive regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway [GO:1901030]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; Synonyms=Siva-1; IsoId=O15304-1; Sequence=Displayed; Name=2; Synonyms=Siva-2; IsoId=O15304-2; Sequence=VSP_007525; Note=Mouse isoform 2 has been shown (Ref.1) to have no pro-apoptotic activity. However, human isoform 2 has been shown to be capable of inducing apoptosis (Ref.9). {ECO:0000305|PubMed:15034012, ECO:0000305|PubMed:9177220}; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:15034012}. Nucleus {ECO:0000269|PubMed:15034012}. Note=In the nucleus, accumulates in dot-like structures.


uniprotID: A0A1B0GW64
geneSymbol: SMIM33
name: Small integral membrane protein 33
length: 132
go: ENSG00000283288;
opentargets: integral component of membrane [GO:0016021]
location: SUBCELLULAR LOCATION: Membrane {ECO:0000255}; Single-pass membrane protein {ECO:0000255}.
sequence:
MHQAGHYSWPSPAVNSSSEQEPQRQLPEVLSGTWEQPRVDGLPVVTVIVAVFVLLAVCIIVAVHFGPRLHQGHATLPTEPPTPKPDGGIYLIHWRVLGPQDSPEEAPPGPLVPGSCPAPDGPRPSIDEVTCL


uniprotID: Q8NDZ2
geneSymbol: SIMC1
name: SUMO-interacting motif-containing protein 1
length: 872
go: ENSG00000170085;
opentargets: SUMO polymer binding [GO:0032184]
snps: rs2001605 rs17857141 rs2001605 rs17853733
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=Q8NDZ2-1; Sequence=Displayed; Name=2; IsoId=Q8NDZ2-2; Sequence=VSP_020673, VSP_020674, VSP_020675; Note=No experimental confirmation available.; Name=3; IsoId=Q8NDZ2-3; Sequence=VSP_020672, VSP_020676; Note=No experimental confirmation available.; Name=4; IsoId=Q8NDZ2-4; Sequence=VSP_020671, VSP_020677; Note=No experimental confirmation available.; 


uniprotID: P12757
geneSymbol: SKIL
reactome: R-HSA-2173795;
pdb: 3EQ5;5C4V;
name: Ski-like protein (Ski-related oncogene) (Ski-related protein)
length: 684
go: ENSG00000136603;
snps: rs3772173
sequence:

opentargets:
acrosomal vesicle [GO:0001669]; cytoplasm [GO:0005737]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; PML body [GO:0016605]; protein-containing complex [GO:0032991]; chromatin binding [GO:0003682]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; protein domain specific binding [GO:0019904]; protein-containing complex binding [GO:0044877]; proximal promoter DNA-binding transcription repressor activity, RNA polymerase II-specific [GO:0001078]; RNA polymerase II proximal promoter sequence-specific DNA binding [GO:0000978]; SMAD binding [GO:0046332]; transcription corepressor activity [GO:0003714]; blastocyst formation [GO:0001825]; cell cycle arrest [GO:0007050]; lens fiber cell differentiation [GO:0070306]; lymphocyte homeostasis [GO:0002260]; negative regulation of BMP signaling pathway [GO:0030514]; negative regulation of cell differentiation [GO:0045596]; negative regulation of transcription by RNA polymerase II [GO:0000122]; negative regulation of transforming growth factor beta receptor signaling pathway [GO:0030512]; neuron development [GO:0048666]; positive regulation of axonogenesis [GO:0050772]; positive regulation of extrinsic apoptotic signaling pathway via death domain receptors [GO:1902043]; positive regulation of intrinsic apoptotic signaling pathway in response to DNA damage [GO:1902231]; protein heterotrimerization [GO:0070208]; protein homotrimerization [GO:0070207]; response to antibiotic [GO:0046677]; response to cytokine [GO:0034097]; response to growth factor [GO:0070848]; skeletal muscle tissue development [GO:0007519]; spermatogenesis [GO:0007283]; transforming growth factor beta receptor signaling pathway [GO:0007179]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=5;  Name=SNON; IsoId=P12757-1; Sequence=Displayed; Name=SNOA; IsoId=P12757-2; Sequence=VSP_004392, VSP_004394; Name=SNON2; IsoId=P12757-3; Sequence=VSP_004395, VSP_004396; Name=SNOI; IsoId=P12757-4; Sequence=VSP_004393; Name=5; IsoId=P12757-5; Sequence=VSP_040099; Note=No experimental confirmation available.; 


uniprotID: Q9Y448
geneSymbol: KNSTRN
length: 316
go: ENSG00000128944;
snps: rs868438023 rs7164132 rs7169404 rs7169262
name:
Small kinetochore-associated protein (SKAP) (Kinetochore-localized astrin-binding protein) (Kinastrin) (Kinetochore-localized astrin/SPAG5-binding protein) (TRAF4-associated factor 1)

sequence:

opentargets:
condensed chromosome kinetochore [GO:0000777]; cytosol [GO:0005829]; kinetochore [GO:0000776]; microtubule cytoskeleton [GO:0015630]; microtubule plus-end [GO:0035371]; mitotic spindle [GO:0072686]; nucleus [GO:0005634]; spindle pole [GO:0000922]; cell division [GO:0051301]; chromosome segregation [GO:0007059]; mitotic sister chromatid segregation [GO:0000070]; regulation of attachment of spindle microtubules to kinetochore [GO:0051988]; spindle organization [GO:0007051]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q9Y448-1; Sequence=Displayed; Name=2; IsoId=Q9Y448-2; Sequence=VSP_041070; Name=3; IsoId=Q9Y448-3; Sequence=VSP_041069; 

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:24718257}. Chromosome, centromere, kinetochore {ECO:0000269|PubMed:19667759, ECO:0000269|PubMed:21402792, ECO:0000269|PubMed:22110139, ECO:0000269|PubMed:23035123}. Cytoplasm, cytoskeleton, spindle pole {ECO:0000269|PubMed:19667759}. Note=Colocalizes with microtubules around centrosomes in prophase and with the mitotic spindle at prometaphase and metaphase. From late prometaphase to anaphase, is highly concentrated on kinetochores. Located at the kinetochore-microtubule interface. The astrin (SPAG5)-kinastrin (SKAP) complex localizes to the microtubule plus ends (PubMed:23035123). {ECO:0000269|PubMed:19667759, ECO:0000269|PubMed:21402792, ECO:0000269|PubMed:22110139, ECO:0000269|PubMed:23035123}.


uniprotID: Q5T5P2
geneSymbol: KIAA1217
name: Sickle tail protein homolog
length: 1943
go: ENSG00000120549;
opentargets: cytoplasm [GO:0005737]; embryonic skeletal system development [GO:0048706]
snps: rs17506606 rs10828663 rs16924863
location: SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250|UniProtKB:A2AQ25}.
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=9;  Name=1; IsoId=Q5T5P2-1; Sequence=Displayed; Name=2 {ECO:0000269|PubMed:10574462}; IsoId=Q5T5P2-2; Sequence=VSP_052429; Name=3; IsoId=Q5T5P2-3; Sequence=VSP_052427, VSP_052428, VSP_052431, VSP_052432; Name=4 {ECO:0000269|PubMed:15489334}; IsoId=Q5T5P2-4; Sequence=VSP_052427, VSP_052428, VSP_052429, VSP_052431, VSP_052432; Name=5; IsoId=Q5T5P2-7; Sequence=VSP_052428, VSP_030353; Name=6 {ECO:0000269|PubMed:15489334}; IsoId=Q5T5P2-6; Sequence=VSP_052427, VSP_052428, VSP_052430, VSP_052431, VSP_052432; Name=7; IsoId=Q5T5P2-8; Sequence=VSP_052427, VSP_052428, VSP_030353, VSP_052431, VSP_052432; Name=9; IsoId=Q5T5P2-9; Sequence=VSP_054107, VSP_052429; Name=10; IsoId=Q5T5P2-10; Sequence=VSP_052428, VSP_054874, VSP_052430; Note=No experimental confirmation available.; 


uniprotID: P48764
geneSymbol: SLC9A3
reactome: R-HSA-425986;
name: Sodium/hydrogen exchanger 3 (Na(+)/H(+) exchanger 3) (NHE-3) (Solute carrier family 9 member 3)
length: 834
go: ENSG00000066230;
snps: rs1047334552 rs869312807 rs869312806 rs766076524 rs2247114
sequence:

opentargets:
apical plasma membrane [GO:0016324]; brush border [GO:0005903]; brush border membrane [GO:0031526]; cell surface [GO:0009986]; extracellular exosome [GO:0070062]; integral component of membrane [GO:0016021]; plasma membrane [GO:0005886]; PDZ domain binding [GO:0030165]; potassium:proton antiporter activity [GO:0015386]; sodium:proton antiporter activity [GO:0015385]; ion transport [GO:0006811]; potassium ion transmembrane transport [GO:0071805]; regulation of intracellular pH [GO:0051453]; sodium ion import across plasma membrane [GO:0098719]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P48764-1; Sequence=Displayed; Name=2; IsoId=P48764-2; Sequence=VSP_053989; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Apical cell membrane {ECO:0000269|PubMed:19088451, ECO:0000269|PubMed:26358773}; Multi-pass membrane protein {ECO:0000269|PubMed:19088451}. Note=In intestinal epithelial cells, localizes to the ileal brush border. Phosphorylation at Ser-663 by SGK1 is associated with increased abundance at the cell membrane. Angiotensin-2 enhances apical expression (By similarity). {ECO:0000250|UniProtKB:Q28362}.


uniprotID: Q6AI14
geneSymbol: SLC9A4
reactome: R-HSA-425986;
name: Sodium/hydrogen exchanger 4 (Na(+)/H(+) exchanger 4) (NHE-4) (Solute carrier family 9 member 4)
length: 798
go: ENSG00000180251;
snps: rs17027275 rs6742280
sequence:

opentargets:
apical plasma membrane [GO:0016324]; basolateral plasma membrane [GO:0016323]; integral component of membrane [GO:0016021]; plasma membrane [GO:0005886]; potassium:proton antiporter activity [GO:0015386]; sodium:proton antiporter activity [GO:0015385]; epithelial cell development [GO:0002064]; gastric acid secretion [GO:0001696]; ion transport [GO:0006811]; potassium ion transmembrane transport [GO:0071805]; regulation of intracellular pH [GO:0051453]; sodium ion import across plasma membrane [GO:0098719]

location:
SUBCELLULAR LOCATION: Apical cell membrane {ECO:0000250}; Multi-pass membrane protein {ECO:0000250}. Basolateral cell membrane {ECO:0000250}; Multi-pass membrane protein {ECO:0000250}. Cytoplasmic granule membrane {ECO:0000250}; Multi-pass membrane protein {ECO:0000250}. Note=Found in zymogen granule membranes. {ECO:0000250}.


uniprotID: Q14940
geneSymbol: SLC9A5
reactome: R-HSA-425986;
name: Sodium/hydrogen exchanger 5 (Na(+)/H(+) exchanger 5) (NHE-5) (Solute carrier family 9 member 5)
length: 896
go: ENSG00000135740;
location: SUBCELLULAR LOCATION: Membrane; Multi-pass membrane protein.
sequence:

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


uniprotID: Q92581
geneSymbol: SLC9A6
reactome: R-HSA-425986;R-HSA-5619092;
name: Sodium/hydrogen exchanger 6 (Na(+)/H(+) exchanger 6) (NHE-6) (Solute carrier family 9 member 6)
length: 669
go: ENSG00000198689;
sequence:

opentargets:
axon terminus [GO:0043679]; axonal spine [GO:0044308]; dendrite [GO:0030425]; early endosome membrane [GO:0031901]; endoplasmic reticulum membrane [GO:0005789]; integral component of membrane [GO:0016021]; intracellular membrane-bounded organelle [GO:0043231]; late endosome [GO:0005770]; plasma membrane [GO:0005886]; recycling endosome [GO:0055037]; recycling endosome membrane [GO:0055038]; potassium:proton antiporter activity [GO:0015386]; sodium:proton antiporter activity [GO:0015385]; axon extension [GO:0048675]; brain-derived neurotrophic factor receptor signaling pathway [GO:0031547]; dendrite extension [GO:0097484]; dendritic spine development [GO:0060996]; ion transport [GO:0006811]; neuron projection morphogenesis [GO:0048812]; potassium ion transmembrane transport [GO:0071805]; regulation of intracellular pH [GO:0051453]; regulation of neurotrophin TRK receptor signaling pathway [GO:0051386]; sodium ion import across plasma membrane [GO:0098719]; synapse organization [GO:0050808]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q92581-1; Sequence=Displayed; Name=2; IsoId=Q92581-2; Sequence=VSP_042030; Name=3; IsoId=Q92581-3; Sequence=VSP_044868, VSP_042030; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Endosome membrane {ECO:0000269|PubMed:11940519}; Multi-pass membrane protein {ECO:0000269|PubMed:11940519}. Note=Is present in the recycling compartments including early and recycling endosomes, and only appears transiently on the plasma membrane.


uniprotID: Q96T83
geneSymbol: SLC9A7
reactome: R-HSA-425986;
name: Sodium/hydrogen exchanger 7 (Na(+)/H(+) exchanger 7) (NHE-7) (Solute carrier family 9 member 7)
length: 725
go: ENSG00000065923;
sequence:

opentargets:
Golgi membrane [GO:0000139]; integral component of membrane [GO:0016021]; intracellular membrane-bounded organelle [GO:0043231]; plasma membrane [GO:0005886]; recycling endosome [GO:0055037]; recycling endosome membrane [GO:0055038]; trans-Golgi network [GO:0005802]; potassium:proton antiporter activity [GO:0015386]; protein homodimerization activity [GO:0042803]; sodium:proton antiporter activity [GO:0015385]; ion transport [GO:0006811]; potassium ion transmembrane transport [GO:0071805]; regulation of intracellular pH [GO:0051453]; regulation of pH [GO:0006885]; sodium ion import across plasma membrane [GO:0098719]

location:
SUBCELLULAR LOCATION: Golgi apparatus, trans-Golgi network membrane {ECO:0000269|PubMed:15840657}; Multi-pass membrane protein {ECO:0000269|PubMed:15840657}. Recycling endosome membrane {ECO:0000269|PubMed:15840657}; Multi-pass membrane protein {ECO:0000269|PubMed:15840657}.


uniprotID: Q13239
geneSymbol: SLA
pdb: 2CUD;
name: Src-like-adapter (Src-like-adapter protein 1) (SLAP-1) (hSLAP)
length: 276
go: ENSG00000155926;
snps: rs4486183
sequence:

opentargets:
endosome [GO:0005768]; non-membrane spanning protein tyrosine kinase activity [GO:0004715]; SH3/SH2 adaptor activity [GO:0005070]; cell differentiation [GO:0030154]; peptidyl-tyrosine autophosphorylation [GO:0038083]; regulation of cell proliferation [GO:0042127]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=5;  Name=1; IsoId=Q13239-1; Sequence=Displayed; Name=2; IsoId=Q13239-2; Sequence=VSP_055122; Note=No experimental confirmation available.; Name=3; IsoId=Q13239-3; Sequence=VSP_055123; Note=No experimental confirmation available.; Name=4; IsoId=Q13239-4; Sequence=VSP_055123, VSP_055125; Note=No experimental confirmation available.; Name=5; IsoId=Q13239-5; Sequence=VSP_055124; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250}. Endosome {ECO:0000250}. Note=Colocalizes with endosomes. {ECO:0000250}.


uniprotID: Q08AF3
geneSymbol: SLFN5
name: Schlafen family member 5
length: 891
go: ENSG00000166750;
opentargets: nucleus [GO:0005634]; ATP binding [GO:0005524]; cell differentiation [GO:0030154]
snps: rs16970806 rs11651240 rs2291189
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q08AF3-1; Sequence=Displayed; Name=2; IsoId=Q08AF3-2; Sequence=VSP_024271, VSP_024272; Note=No experimental confirmation available.; 


uniprotID: Q9BQI6
geneSymbol: SLF1
length: 1058
go: ENSG00000133302;
snps: rs6891545
name:
SMC5-SMC6 complex localization factor protein 1 (Ankyrin repeat domain-containing protein 32) (BRCT domain-containing protein 1) (Smc5/6 localization factor 1)

sequence:

opentargets:
centrosome [GO:0005813]; cytoplasm [GO:0005737]; nuclear inclusion body [GO:0042405]; nucleosome [GO:0000786]; 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=2;  Name=1; IsoId=Q9BQI6-1; Sequence=Displayed; Name=2; IsoId=Q9BQI6-2; Sequence=VSP_056914, VSP_056915; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:25931565}. Cytoplasm {ECO:0000250|UniProtKB:Q8R3P9}. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome {ECO:0000250|UniProtKB:Q8R3P9}. Note=Relocalizes with RAD18 to nuclear foci in response to DNA damage. Colocalizes with RAD18 in the nucleus and to centrosomes (By similarity). 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:0000250|UniProtKB:Q8R3P9, ECO:0000269|PubMed:25931565}.


uniprotID: O94933
geneSymbol: SLITRK3
reactome: R-HSA-388844;
name: SLIT and NTRK-like protein 3
length: 977
go: ENSG00000121871;
snps: rs3828419
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Single-pass type I membrane protein {ECO:0000305}.
sequence:

opentargets:
GABA-ergic synapse [GO:0098982]; integral component of postsynaptic density membrane [GO:0099061]; integral component of postsynaptic specialization membrane [GO:0099060]; plasma membrane [GO:0005886]; axonogenesis [GO:0007409]; positive regulation of synapse assembly [GO:0051965]; regulation of presynapse assembly [GO:1905606]; synaptic membrane adhesion [GO:0099560]


uniprotID: O94991
geneSymbol: SLITRK5
reactome: R-HSA-388844;
name: SLIT and NTRK-like protein 5 (Leucine-rich repeat-containing protein 11)
length: 958
go: ENSG00000165300;
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Single-pass type I membrane protein {ECO:0000305}.
sequence:

opentargets:
integral component of membrane [GO:0016021]; plasma membrane [GO:0005886]; receptor complex [GO:0043235]; adult behavior [GO:0030534]; axonogenesis [GO:0007409]; cardiovascular system development [GO:0072358]; chemical synaptic transmission [GO:0007268]; dendrite morphogenesis [GO:0048813]; grooming behavior [GO:0007625]; positive regulation of synapse assembly [GO:0051965]; response to xenobiotic stimulus [GO:0009410]; skin development [GO:0043588]; striatum development [GO:0021756]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=O94991-1; Sequence=Displayed; Name=2; IsoId=O94991-2; Sequence=VSP_056676, VSP_056677; Note=No experimental confirmation available.; 


uniprotID: Q9H5Y7
geneSymbol: SLITRK6
reactome: R-HSA-388844;
name: SLIT and NTRK-like protein 6
length: 841
go: ENSG00000184564;
snps: rs12863734 rs9547378 rs17080147
sequence:

opentargets:
cell surface [GO:0009986]; integral component of plasma membrane [GO:0005887]; plasma membrane [GO:0005886]; adult locomotory behavior [GO:0008344]; auditory behavior [GO:0031223]; auditory receptor cell morphogenesis [GO:0002093]; axonogenesis [GO:0007409]; cochlea development [GO:0090102]; innervation [GO:0060384]; lens development in camera-type eye [GO:0002088]; linear vestibuloocular reflex [GO:0060007]; multicellular organism growth [GO:0035264]; positive regulation of synapse assembly [GO:0051965]; sensory perception of sound [GO:0007605]; startle response [GO:0001964]; synapse assembly [GO:0007416]; vestibulocochlear nerve development [GO:0021562]; visual perception [GO:0007601]

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:23543054, ECO:0000269|PubMed:23946138}; Single-pass type I membrane protein {ECO:0000269|PubMed:23543054, ECO:0000269|PubMed:23946138}.


uniprotID: O75093
geneSymbol: SLIT1
reactome: R-HSA-373752;R-HSA-376176;R-HSA-428542;R-HSA-8985801;R-HSA-9010553;
length: 1534
go: ENSG00000187122;
snps: rs2817673
location: SUBCELLULAR LOCATION: Secreted {ECO:0000250}.
name:
Slit homolog 1 protein (Slit-1) (Multiple epidermal growth factor-like domains protein 4) (Multiple EGF-like domains protein 4)

sequence:

opentargets:
extracellular space [GO:0005615]; intracellular [GO:0005622]; calcium ion binding [GO:0005509]; Roundabout binding [GO:0048495]; axon extension involved in axon guidance [GO:0048846]; axon guidance [GO:0007411]; dorsal/ventral axon guidance [GO:0033563]; forebrain morphogenesis [GO:0048853]; motor neuron axon guidance [GO:0008045]; negative chemotaxis [GO:0050919]; negative regulation of synapse assembly [GO:0051964]; nuclear migration [GO:0007097]; retinal ganglion cell axon guidance [GO:0031290]; tangential migration from the subventricular zone to the olfactory bulb [GO:0022028]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=O75093-1; Sequence=Displayed; Name=2; Synonyms=B; IsoId=O75093-2; Sequence=VSP_009706, VSP_009707, VSP_009708; 


uniprotID: Q9Y3I0
geneSymbol: RTCB
reactome: R-HSA-6784531;
name: tRNA-splicing ligase RtcB homolog (EC 6.5.1.3)
length: 505
go: ENSG00000100220;
drug: DB02772;
snps: rs11545747 rs17849275
sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; endoplasmic reticulum membrane [GO:0005789]; intracellular membrane-bounded organelle [GO:0043231]; nuclear envelope [GO:0005635]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; tRNA-splicing ligase complex [GO:0072669]; ATP binding [GO:0005524]; metal ion binding [GO:0046872]; RNA binding [GO:0003723]; RNA ligase (ATP) activity [GO:0003972]; vinculin binding [GO:0017166]; in utero embryonic development [GO:0001701]; placenta development [GO:0001890]; tRNA exon ligation utilizing 2',3' cyclic phosphate of 5'-exon as source of linkage phosphate [GO:0000971]; tRNA splicing, via endonucleolytic cleavage and ligation [GO:0006388]

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:24608264}. Cytoplasm {ECO:0000255|HAMAP-Rule:MF_03144, ECO:0000269|PubMed:24608264}. Note=Enters into the nucleus in case of active transcription while it accumulates in cytosol when transcription level is low. {ECO:0000269|PubMed:24608264}.


uniprotID: Q9NZ71
geneSymbol: RTEL1
reactome: R-HSA-2564830;R-HSA-5693554;
name: Regulator of telomere elongation helicase 1 (EC 3.6.4.12) (Novel helicase-like)
length: 1219
go: ENSG00000258366;
sequence:

opentargets:
chromosome, telomeric region [GO:0000781]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; 4 iron, 4 sulfur cluster binding [GO:0051539]; ATP binding [GO:0005524]; ATP-dependent DNA helicase activity [GO:0004003]; DNA binding [GO:0003677]; DNA polymerase binding [GO:0070182]; metal ion binding [GO:0046872]; DNA duplex unwinding [GO:0032508]; DNA repair [GO:0006281]; mitotic telomere maintenance via semi-conservative replication [GO:1902990]; negative regulation of DNA recombination [GO:0045910]; negative regulation of t-circle formation [GO:1904430]; negative regulation of telomere maintenance in response to DNA damage [GO:1904506]; positive regulation of telomere capping [GO:1904355]; positive regulation of telomere maintenance [GO:0032206]; positive regulation of telomere maintenance via telomere lengthening [GO:1904358]; positive regulation of telomeric loop disassembly [GO:1904535]; regulation of double-strand break repair via homologous recombination [GO:0010569]; replication fork processing [GO:0031297]; strand displacement [GO:0000732]; telomere maintenance [GO:0000723]; telomere maintenance in response to DNA damage [GO:0043247]; telomeric loop disassembly [GO:0090657]

snps:
rs3848668 rs398123019 rs786205700 rs370343781 rs398123051 rs398123052 rs35640778 rs398123048 rs398123016 rs398123049 rs190887884 rs61736615 rs398123018 rs1470145133 rs115610405 rs3208008 rs115303435 rs786205702 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=8;  Comment=Additional isoforms seem to exist.; Name=2; IsoId=Q9NZ71-1; Sequence=Displayed; Name=1; IsoId=Q9NZ71-2; Sequence=VSP_036940; Note=Variant in position: 1264:R->H (in DKCB5), abolishes activity. {ECO:0000305}; Name=4; IsoId=Q9NZ71-4; Sequence=VSP_007076, VSP_007077; Note=No experimental confirmation available.; Name=5; IsoId=Q9NZ71-5; Sequence=VSP_017093, VSP_017094; Note=No experimental confirmation available.; Name=6; IsoId=Q9NZ71-6; Sequence=VSP_017094; Note=No experimental confirmation available.; Name=7; IsoId=Q9NZ71-7; Sequence=VSP_036938; Note=No experimental confirmation available.; Name=8; IsoId=Q9NZ71-8; Sequence=VSP_036939; Note=No experimental confirmation available.; Name=9; IsoId=Q9NZ71-9; Sequence=VSP_036937; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000255|HAMAP-Rule:MF_03065, ECO:0000269|PubMed:23585563}. Note=Colocalizes with PCNA within the replication foci in S-phase cells. {ECO:0000255|HAMAP-Rule:MF_03065}.


uniprotID: Q9Y224
geneSymbol: RTRAF
reactome: R-HSA-6784531;
name: RNA transcription, translation and transport factor protein (CLE7 homolog) (CLE) (hCLE)
length: 244
go: ENSG00000087302;
sequence:

opentargets:
centrosome [GO:0005813]; cytoplasm [GO:0005737]; cytosol [GO:0005829]; mitotic spindle [GO:0072686]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; perinuclear region of cytoplasm [GO:0048471]; tRNA-splicing ligase complex [GO:0072669]; identical protein binding [GO:0042802]; RNA binding [GO:0003723]; RNA polymerase II complex binding [GO:0000993]; negative regulation of protein kinase activity [GO:0006469]; positive regulation of transcription by RNA polymerase II [GO:0045944]; RNA transport [GO:0050658]; tRNA splicing, via endonucleolytic cleavage and ligation [GO:0006388]; viral process [GO:0016032]

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:15147888, ECO:0000269|PubMed:24608264}. Cytoplasm, cytosol {ECO:0000269|PubMed:15147888, ECO:0000269|PubMed:24608264}. Cytoplasm, perinuclear region {ECO:0000269|PubMed:15147888}. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome {ECO:0000269|PubMed:15147888}. Note=May localize at the centrosome during mitosis (PubMed:15147888). Shuttles between the cytosol and the nucleus: enters into the nucleus in case of active transcription while it accumulates in cytosol when transcription level is low (PubMed:24608264). {ECO:0000269|PubMed:15147888, ECO:0000269|PubMed:24608264}.; SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:26864902}. Cytoplasm {ECO:0000269|PubMed:26864902}. Note=(Microbial infection) Following influenza A virus (IAV) infection, included in influenza A virions via its association with packaged viral ribonucleoproteins (vRNP) in the nucleus and cytoplasm (PubMed:21900157, PubMed:26864902). {ECO:0000269|PubMed:21900157, ECO:0000269|PubMed:26864902}.


uniprotID: P59025
geneSymbol: RTP1
reactome: R-HSA-381753;
name: Receptor-transporting protein 1 (3CxxC-type zinc finger protein 1)
length: 263
go: ENSG00000175077;
snps: rs35053281 rs6764714
sequence:

opentargets:
cell surface [GO:0009986]; integral component of membrane [GO:0016021]; intracellular [GO:0005622]; plasma membrane [GO:0005886]; olfactory receptor binding [GO:0031849]; detection of chemical stimulus involved in sensory perception of bitter taste [GO:0001580]; protein insertion into membrane [GO:0051205]; protein targeting to membrane [GO:0006612]

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000250}; Single-pass type III membrane protein {ECO:0000250}. Note=Effective cell surface expression depends upon interaction with olfactory receptors. {ECO:0000250}.


uniprotID: P08621
geneSymbol: SNRNP70
reactome: R-HSA-72163;
pdb: 2L5I;2L5J;3CW1;3PGW;4PJO;4PKD;
name: U1 small nuclear ribonucleoprotein 70 kDa (U1 snRNP 70 kDa) (U1-70K) (snRNP70)
length: 437
go: ENSG00000104852;
sequence:

opentargets:
commitment complex [GO:0000243]; nuclear speck [GO:0016607]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; spliceosomal complex [GO:0005681]; U1 snRNP [GO:0005685]; mRNA binding [GO:0003729]; RNA binding [GO:0003723]; U1 snRNA binding [GO:0030619]; mRNA splicing, via spliceosome [GO:0000398]; negative regulation of chaperone-mediated autophagy [GO:1904715]; negative regulation of protein refolding [GO:0061084]; positive regulation of mRNA splicing, via spliceosome [GO:0048026]; regulation of ATPase activity [GO:0043462]; regulation of RNA splicing [GO:0043484]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=P08621-1; Sequence=Displayed; Name=2; IsoId=P08621-2; Sequence=VSP_005850; Name=3; IsoId=P08621-3; Sequence=VSP_005848, VSP_005849; Name=4; IsoId=P08621-4; Sequence=VSP_005847; 

location:
SUBCELLULAR LOCATION: Nucleus speckle {ECO:0000269|PubMed:17656373}. Nucleus, nucleoplasm {ECO:0000269|PubMed:17656373, ECO:0000269|PubMed:21113136}. Note=Colocalizes with SCNM1 and LUC7L2 in nuclear speckles. {ECO:0000250|UniProtKB:Q62376}.


uniprotID: P08579
geneSymbol: SNRPB2
reactome: R-HSA-72163;
pdb: 1A9N;5MQF;5O9Z;5XJC;5YZG;5Z56;5Z57;5Z58;
name: U2 small nuclear ribonucleoprotein B'' (U2 snRNP B'')
length: 225
go: ENSG00000125870;
sequence:

opentargets:
catalytic step 2 spliceosome [GO:0071013]; fibrillar center [GO:0001650]; nuclear speck [GO:0016607]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; spliceosomal complex [GO:0005681]; U1 snRNP [GO:0005685]; U2 snRNP [GO:0005686]; U2-type catalytic step 2 spliceosome [GO:0071007]; U2-type precatalytic spliceosome [GO:0071005]; snRNA stem-loop binding [GO:0035614]; snRNP binding [GO:0070990]; U1 snRNA binding [GO:0030619]; mRNA splicing, via spliceosome [GO:0000398]

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:28076346, ECO:0000269|PubMed:28502770, ECO:0000269|PubMed:28781166}.


uniprotID: Q66K80
geneSymbol: RUSC1-AS1
name: Putative uncharacterized protein RUSC1-AS1 (RUSC1 antisense RNA 1) (RUSC1 antisense gene protein 1)
length: 236
snps: rs16836822
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q66K80-1; Sequence=Displayed; Note=No experimental confirmation available.; Name=2; IsoId=Q66K80-2; Sequence=VSP_020778, VSP_020779; Note=No experimental confirmation available.; 


uniprotID: Q8WXA3
geneSymbol: RUFY2
name: RUN and FYVE domain-containing protein 2 (Rab4-interacting protein related)
length: 606
go: ENSG00000204130;
snps: rs11816774
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000250}.
sequence:

opentargets:
cytoplasm [GO:0005737]; endosome [GO:0005768]; nucleus [GO:0005634]; metal ion binding [GO:0046872]; SH3 domain binding [GO:0017124]; regulation of endocytosis [GO:0030100]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=5;  Name=1; IsoId=Q8WXA3-2; Sequence=Displayed; Name=5; IsoId=Q8WXA3-1; Sequence=VSP_059506; Note=No experimental confirmation available. {ECO:0000305}; Name=2; IsoId=Q8WXA3-3; Sequence=VSP_059505; Name=3; IsoId=Q8WXA3-4; Sequence=VSP_059508, VSP_059509, VSP_059510; Name=4; IsoId=Q8WXA3-5; Sequence=VSP_059507, VSP_059509, VSP_059510; Note=No experimental confirmation available.; 


uniprotID: Q7L099
geneSymbol: RUFY3
length: 469
go: ENSG00000018189;
name:
Protein RUFY3 (RUN and FYVE domain-containing protein 3) (Rap2-interacting protein x) (RIPx) (Single axon-regulated protein) (Singar)

sequence:

opentargets:
axon [GO:0030424]; cell junction [GO:0030054]; cytoplasm [GO:0005737]; cytosol [GO:0005829]; dendrite [GO:0030425]; endomembrane system [GO:0012505]; filopodium [GO:0030175]; growth cone [GO:0030426]; invadopodium [GO:0071437]; lamellipodium [GO:0030027]; membrane [GO:0016020]; neuronal cell body [GO:0043025]; perikaryon [GO:0043204]; actin filament organization [GO:0007015]; negative regulation of axonogenesis [GO:0050771]; positive regulation of axon extension [GO:0045773]; positive regulation of cell migration [GO:0030335]; positive regulation of intracellular protein transport [GO:0090316]; regulation of axonogenesis [GO:0050770]; regulation of establishment of cell polarity [GO:2000114]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=Q7L099-1; Sequence=Displayed; Name=2; IsoId=Q7L099-2; Sequence=VSP_041250, VSP_041254, VSP_041255; Note=Ref.5 (AAF17208) sequence has a frameshift in position 116.; Name=3; IsoId=Q7L099-3; Sequence=VSP_041253; Name=4; IsoId=Q7L099-4; Sequence=VSP_041251, VSP_041252, VSP_041253; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:25766321}. Endomembrane system {ECO:0000269|PubMed:20376209}. Cell projection, invadopodium {ECO:0000269|PubMed:25766321}. Perikaryon {ECO:0000250|UniProtKB:Q9D394}. Cell projection {ECO:0000250|UniProtKB:Q9D394}. Cell projection, growth cone {ECO:0000250|UniProtKB:Q9D394}. Cell projection, filopodium {ECO:0000250|UniProtKB:Q9D394}. Cell projection, lamellipodium {ECO:0000250|UniProtKB:Q9D394}. Note=Colocalizes with PAK1, F-actin, myosins and integrins in invadopodia at the cell periphery (PubMed:25766321). Colocalized with Ras-related Rab-5 proteins in cytoplasmic vesicles (PubMed:20376209). Accumulates in axon growth cones in a F-actin-dependent manner (By similarity). Colocalized with FSCN1 and F-actin at filipodia and lamellipodia of axonal growth cones (By similarity). Colocalized with DBN1 and F-actin at transitional domain of the axonal growth cone (By similarity). {ECO:0000250|UniProtKB:Q5FVJ0, ECO:0000250|UniProtKB:Q9D394, ECO:0000269|PubMed:20376209, ECO:0000269|PubMed:25766321}.


uniprotID: Q6ZNE9
geneSymbol: RUFY4
name: RUN and FYVE domain-containing protein 4
length: 571
go: ENSG00000188282;
location: SUBCELLULAR LOCATION: Cytoplasmic vesicle, autophagosome {ECO:0000269|PubMed:26416964}.
sequence:

opentargets:
autophagosome [GO:0005776]; cytoplasmic vesicle [GO:0031410]; metal ion binding [GO:0046872]; phosphatidylinositol-3-phosphate binding [GO:0032266]; autophagosome assembly [GO:0000045]; cellular response to interleukin-4 [GO:0071353]; positive regulation of macroautophagy [GO:0016239]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q6ZNE9-2; Sequence=Displayed; Note=No experimental confirmation available.; Name=2; IsoId=Q6ZNE9-3; Sequence=VSP_035815, VSP_035816; Note=May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.; 


uniprotID: Q96C34
geneSymbol: RUNDC1
name: RUN domain-containing protein 1
length: 613
go: ENSG00000198863;
snps: rs17853899 rs1708875 rs17857183 rs3744241
sequence:

opentargets:
intracellular [GO:0005622]; GTPase activator activity [GO:0005096]; Rab GTPase binding [GO:0017137]; activation of GTPase activity [GO:0090630]; intracellular protein transport [GO:0006886]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q96C34-1; Sequence=Displayed; Name=2; IsoId=Q96C34-2; Sequence=VSP_024551; Note=No experimental confirmation available.; 


uniprotID: Q6P087
geneSymbol: RPUSD3
length: 351
go: ENSG00000156990;
snps: rs17855991 rs34244989 rs34244989
name:
Mitochondrial mRNA pseudouridine synthase RPUSD3 (EC 5.4.99.-) (RNA pseudouridylate synthase domain-containing protein 3)

sequence:

opentargets:
mitochondrial matrix [GO:0005759]; pseudouridine synthase activity [GO:0009982]; RNA binding [GO:0003723]; mRNA processing [GO:0006397]; positive regulation of mitochondrial translation [GO:0070131]; pseudouridine synthesis [GO:0001522]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q6P087-1; Sequence=Displayed; Name=2; IsoId=Q6P087-2; Sequence=VSP_027870; Name=3; IsoId=Q6P087-3; Sequence=VSP_027869; 

location:
SUBCELLULAR LOCATION: Mitochondrion matrix {ECO:0000269|PubMed:27974379}. Note=Localizes to mitochondrial RNA granules, platforms for post-transcriptional RNA modification and ribosome assembly. {ECO:0000269|PubMed:27974379, ECO:0000269|PubMed:28082677}.


uniprotID: Q13950
geneSymbol: RUNX2
length: 521
go: ENSG00000124813;
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:28505335, ECO:0000269|PubMed:28738062}.
reactome:
R-HSA-2032785;R-HSA-8878166;R-HSA-8939246;R-HSA-8939902;R-HSA-8940973;R-HSA-8941284;R-HSA-8941326;R-HSA-8941332;R-HSA-8941333;

name:
Runt-related transcription factor 2 (Acute myeloid leukemia 3 protein) (Core-binding factor subunit alpha-1) (CBF-alpha-1) (Oncogene AML-3) (Osteoblast-specific transcription factor 2) (OSF-2) (Polyomavirus enhancer-binding protein 2 alpha A subunit) (PEA2-alpha A) (PEBP2-alpha A) (SL3-3 enhancer factor 1 alpha A subunit) (SL3/AKV core-binding factor alpha A subunit)

sequence:

opentargets:
cytosol [GO:0005829]; nuclear chromatin [GO:0000790]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; transcription factor complex [GO:0005667]; ATP binding [GO:0005524]; bHLH transcription factor binding [GO:0043425]; chromatin binding [GO:0003682]; DNA-binding transcription factor activity [GO:0003700]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; protein domain specific binding [GO:0019904]; proximal promoter DNA-binding transcription activator activity, RNA polymerase II-specific [GO:0001077]; repressing transcription factor binding [GO:0070491]; RNA polymerase II proximal promoter sequence-specific DNA binding [GO:0000978]; BMP signaling pathway [GO:0030509]; cell maturation [GO:0048469]; cellular response to BMP stimulus [GO:0071773]; chondrocyte development [GO:0002063]; embryonic cranial skeleton morphogenesis [GO:0048701]; embryonic forelimb morphogenesis [GO:0035115]; endochondral ossification [GO:0001958]; hemopoiesis [GO:0030097]; negative regulation of smoothened signaling pathway [GO:0045879]; negative regulation of transcription, DNA-templated [GO:0045892]; neuron differentiation [GO:0030182]; odontogenesis of dentin-containing tooth [GO:0042475]; ossification [GO:0001503]; osteoblast development [GO:0002076]; osteoblast differentiation [GO:0001649]; osteoblast fate commitment [GO:0002051]; positive regulation of cell proliferation [GO:0008284]; positive regulation of chondrocyte differentiation [GO:0032332]; positive regulation of osteoblast differentiation [GO:0045669]; 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]; regulation of fibroblast growth factor receptor signaling pathway [GO:0040036]; regulation of odontogenesis of dentin-containing tooth [GO:0042487]; stem cell differentiation [GO:0048863]; T cell differentiation [GO:0030217]; transcription initiation from RNA polymerase II promoter [GO:0006367]

snps:
rs104893995 rs104893995 rs104893989 rs201647225 rs1057521068 rs104893990 rs104893993 rs752933596 rs104893991 rs104893992 rs11498198 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; Synonyms=Cbfa1a; IsoId=Q13950-1; Sequence=Displayed; Name=2; IsoId=Q13950-2; Sequence=VSP_005937; Name=3; Synonyms=Cbfa1b; IsoId=Q13950-3; Sequence=VSP_005938; 


uniprotID: O43236
geneSymbol: SEPT4
length: 478
go: ENSG00000108387;
snps: rs17741424
name:
Septin-4 (Apoptosis-related protein in the TGF-beta signaling pathway) (ARTS) (Bradeion beta) (Brain protein H5) (CE5B3 beta) (Cell division control-related protein 2) (hCDCREL-2) (Cerebral protein 7) (Peanut-like protein 2)

sequence:

opentargets:
microtubule cytoskeleton [GO:0015630]; mitochondrion [GO:0005739]; myelin sheath [GO:0043209]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; septin complex [GO:0031105]; septin filament array [GO:0032160]; septin ring [GO:0005940]; sperm annulus [GO:0097227]; synaptic vesicle [GO:0008021]; GTP binding [GO:0005525]; GTPase activity [GO:0003924]; magnesium ion binding [GO:0000287]; protein homodimerization activity [GO:0042803]; protein-containing complex scaffold activity [GO:0032947]; structural molecule activity [GO:0005198]; apoptotic process [GO:0006915]; brain development [GO:0007420]; cilium assembly [GO:0060271]; mitotic cytokinesis [GO:0000281]; positive regulation of apoptotic process [GO:0043065]; positive regulation of intrinsic apoptotic signaling pathway [GO:2001244]; positive regulation of protein ubiquitination [GO:0031398]; protein homooligomerization [GO:0051260]; regulation of apoptotic process [GO:0042981]; regulation of exocytosis [GO:0017157]; septin ring assembly [GO:0000921]; sperm capacitation [GO:0048240]; sperm mitochondrion organization [GO:0030382]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=6;  Name=1; Synonyms=PNUTL2, PNUTL2a, H5/CDCrel2, SEPT4_i1; IsoId=O43236-1; Sequence=Displayed; Name=2; Synonyms=PNUTL2b; IsoId=O43236-2; Sequence=VSP_006050; Name=3; IsoId=O43236-3; Sequence=VSP_038303; Note=No experimental confirmation available.; Name=4; IsoId=O43236-4; Sequence=VSP_038304; Note=No experimental confirmation available.; Name=5; IsoId=O43236-5; Sequence=VSP_038302; Note=No experimental confirmation available.; Name=ARTS; Synonyms=SEPT4_i2; IsoId=O43236-6; Sequence=VSP_006050, VSP_038305, VSP_038306; Note=May be defective in GTP-binding.; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250}. Cytoplasm, cytoskeleton {ECO:0000250}. Cell projection, cilium, flagellum {ECO:0000269|PubMed:25588830}. Note=In platelets, found in areas surrounding alpha-granules. Found in the sperm annulus (PubMed:25588830). {ECO:0000269|PubMed:11146656, ECO:0000269|PubMed:15029247, ECO:0000269|PubMed:15116257, ECO:0000269|PubMed:25588830}.; SUBCELLULAR LOCATION: Isoform ARTS: Mitochondrion. Nucleus. Note=While predominantly localized in the mitochondria under resting conditions, isoform ARTS translocates into the nucleus after TGF-beta treatment and apoptosis induction.


uniprotID: Q8TD22
geneSymbol: SFXN5
name: Sideroflexin-5
length: 340
go: ENSG00000144040;
sequence:

opentargets:
integral component of membrane [GO:0016021]; mitochondrial membrane [GO:0031966]; citrate transmembrane transporter activity [GO:0015137]; iron ion homeostasis [GO:0055072]

location:
SUBCELLULAR LOCATION: Mitochondrion membrane {ECO:0000250}; Multi-pass membrane protein {ECO:0000250}.


uniprotID: O43556
geneSymbol: SGCE
name: Epsilon-sarcoglycan (Epsilon-SG)
length: 437
go: ENSG00000127990;
snps: rs11548284 rs1064794321 rs121908491 rs372686312 rs17851923
sequence:

opentargets:
cytoskeleton [GO:0005856]; dendrite membrane [GO:0032590]; dystrophin-associated glycoprotein complex [GO:0016010]; Golgi apparatus [GO:0005794]; integral component of plasma membrane [GO:0005887]; plasma membrane [GO:0005886]; sarcoglycan complex [GO:0016012]; sarcolemma [GO:0042383]; cell-matrix adhesion [GO:0007160]; muscle organ development [GO:0007517]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; Synonyms=epsilon-SG1; IsoId=O43556-1; Sequence=Displayed; Name=2; Synonyms=epsilon-SG2; IsoId=O43556-3; Sequence=VSP_045092, VSP_045093; Note=Brain-specific.; Name=3; IsoId=O43556-4; Sequence=VSP_054079; 

location:
SUBCELLULAR LOCATION: Cell membrane, sarcolemma {ECO:0000250}; Single-pass membrane protein {ECO:0000250}. Cytoplasm, cytoskeleton {ECO:0000250}. Cell projection, dendrite {ECO:0000250}. Golgi apparatus {ECO:0000250}.


uniprotID: Q9HBY8
geneSymbol: SGK2
reactome: R-HSA-2672351;
name: Serine/threonine-protein kinase Sgk2 (EC 2.7.11.1) (Serum/glucocorticoid-regulated kinase 2)
length: 427
go: ENSG00000101049;
snps: rs33969356 rs35793869
sequence:

opentargets:
cytosol [GO:0005829]; nucleoplasm [GO:0005654]; ATP binding [GO:0005524]; potassium channel regulator activity [GO:0015459]; protein serine/threonine kinase activity [GO:0004674]; sodium channel regulator activity [GO:0017080]; intracellular signal transduction [GO:0035556]; ion transmembrane transport [GO:0034220]; peptidyl-serine phosphorylation [GO:0018105]; positive regulation of transporter activity [GO:0032411]; protein phosphorylation [GO:0006468]; regulation of cell growth [GO:0001558]; regulation of cell proliferation [GO:0042127]; response to oxidative stress [GO:0006979]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=2; Synonyms=beta; IsoId=Q9HBY8-1; Sequence=Displayed; Name=1; Synonyms=alpha; IsoId=Q9HBY8-2; Sequence=VSP_004932; Name=3; IsoId=Q9HBY8-3; Sequence=VSP_026682; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:21865597}. Nucleus {ECO:0000269|PubMed:21865597}.


uniprotID: Q99720
geneSymbol: SIGMAR1
pdb: 5HK1;5HK2;
length: 223
go: ENSG00000147955;
drug: DB00321;DB09014;DB00514;DB01488;DB00540;DB00652;DB03575;DB01708;DB00409;
snps: rs1800866 rs140376902 rs387906829 rs192644838
name:
Sigma non-opioid intracellular receptor 1 (Aging-associated gene 8 protein) (SR31747-binding protein) (SR-BP) (Sigma 1-type opioid receptor) (SIG-1R) (Sigma1-receptor) (Sigma1R) (hSigmaR1)

sequence:

opentargets:
cell junction [GO:0030054]; cytoplasmic vesicle [GO:0031410]; endoplasmic reticulum [GO:0005783]; endoplasmic reticulum membrane [GO:0005789]; growth cone [GO:0030426]; integral component of membrane [GO:0016021]; integral component of plasma membrane [GO:0005887]; lipid droplet [GO:0005811]; nuclear envelope [GO:0005635]; nuclear inner membrane [GO:0005637]; nuclear outer membrane [GO:0005640]; postsynaptic density [GO:0014069]; postsynaptic membrane [GO:0045211]; drug binding [GO:0008144]; identical protein binding [GO:0042802]; opioid receptor activity [GO:0004985]; cell death in response to hydrogen peroxide [GO:0036474]; lipid transport [GO:0006869]; nervous system development [GO:0007399]; protein homotrimerization [GO:0070207]; regulation of neuron apoptotic process [GO:0043523]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=5;  Name=1; IsoId=Q99720-1; Sequence=Displayed; Name=2; IsoId=Q99720-2; Sequence=VSP_021982; Name=3; Synonyms=Sigma-R1A; IsoId=Q99720-3; Sequence=VSP_021986; Name=4; IsoId=Q99720-4; Sequence=VSP_021984, VSP_021985; Name=5; IsoId=Q99720-5; Sequence=VSP_021981, VSP_021983; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Nucleus inner membrane {ECO:0000269|PubMed:10406945}. Nucleus outer membrane {ECO:0000269|PubMed:10406945}. Nucleus envelope {ECO:0000269|PubMed:11476895, ECO:0000269|PubMed:9341151}. Cytoplasmic vesicle {ECO:0000269|PubMed:10406945}. Endoplasmic reticulum membrane {ECO:0000269|PubMed:10406945}. Membrane {ECO:0000269|PubMed:11476895, ECO:0000269|PubMed:27042935, ECO:0000269|PubMed:9341151}; Single-pass membrane protein {ECO:0000269|PubMed:27042935}. Lipid droplet {ECO:0000250|UniProtKB:O55242}. Cell junction. Cell membrane {ECO:0000269|PubMed:23314020}. Cell projection, growth cone. Cell junction, synapse, postsynaptic cell membrane, postsynaptic density {ECO:0000269|PubMed:23314020}. Note=During interphase, detected at the inner and outer nuclear membrane and the endoplasmic reticulum. Detected on cytoplasmic vesicles during mitosis (PubMed:10406945). Targeted to lipid droplets, cholesterol and galactosylceramide-enriched domains of the endoplasmic reticulum. Accumulation at the endoplasmic reticulum is prominent in alpha-motor neurons of patients with amyotrophic lateral sclerosis (PubMed:23314020). Enriched at cell-cell communication regions, growth cone and postsynaptic structures. Localization is modulated by ligand-binding. In motor neurons it is enriched at cholinergic postsynaptic densities (By similarity). {ECO:0000250|UniProtKB:O55242, ECO:0000269|PubMed:10406945, ECO:0000269|PubMed:23314020}.


uniprotID: Q5BJF2
geneSymbol: TMEM97
length: 176
go: ENSG00000109084;
name:
Sigma intracellular receptor 2 (Sigma-2 receptor) (Sigma2 receptor) (Meningioma-associated protein 30) (Transmembrane protein 97)

sequence:
MGAPATRRCVEWLLGLYFLSHIPITLFMDLQAVLPRELYPVEFRNLLKWYAKEFKDPLLQEPPAWFKSFLFCELVFQLPFFPIATYAFLKGSCKWIRTPAIIYSVHTMTTLIPILSTFLFEDFSKASGFKGQRPETLHERLTLVSVYAPYLLIPFILLIFMLRSPYYKYEEKRKKK

opentargets:
cytosol [GO:0005829]; integral component of membrane [GO:0016021]; lysosome [GO:0005764]; nuclear membrane [GO:0031965]; plasma membrane [GO:0005886]; rough endoplasmic reticulum [GO:0005791]; rough endoplasmic reticulum membrane [GO:0030867]; cholesterol homeostasis [GO:0042632]; regulation of cell growth [GO:0001558]

location:
SUBCELLULAR LOCATION: Nucleus membrane {ECO:0000269|PubMed:19583955}; Multi-pass membrane protein {ECO:0000255}. Rough endoplasmic reticulum membrane {ECO:0000269|PubMed:19583955}; Multi-pass membrane protein {ECO:0000255}. Note=Localized at cell membrane and in lysosomes in sterol-depleted cells when expression of endogenous TMEM97 is stimulated. {ECO:0000269|PubMed:19583955}.


uniprotID: Q96EQ0
geneSymbol: SGTB
length: 304
go: ENSG00000197860;
name:
Small glutamine-rich tetratricopeptide repeat-containing protein beta (Beta-SGT) (Small glutamine-rich protein with tetratricopeptide repeats 2)

sequence:

opentargets:
cytosol [GO:0005829]; membrane [GO:0016020]; TRC complex [GO:0072380]; protein-containing complex scaffold activity [GO:0032947]; positive regulation of chaperone-mediated protein folding [GO:1903646]; posttranslational protein targeting to endoplasmic reticulum membrane [GO:0006620]; ubiquitin-dependent ERAD pathway [GO:0030433]


uniprotID: Q99963
geneSymbol: SH3GL3
reactome: R-HSA-182971;R-HSA-6807004;R-HSA-8856825;R-HSA-8856828;R-HSA-8875360;
pdb: 2EW3;2Z0V;
length: 347
go: ENSG00000140600;
name:
Endophilin-A3 (EEN-B2) (Endophilin-3) (SH3 domain protein 2C) (SH3 domain-containing GRB2-like protein 3)

sequence:

opentargets:
acrosomal vesicle [GO:0001669]; early endosome membrane [GO:0031901]; glutamatergic synapse [GO:0098978]; postsynaptic density, intracellular component [GO:0099092]; postsynaptic endosome [GO:0098845]; presynapse [GO:0098793]; identical protein binding [GO:0042802]; lipid binding [GO:0008289]; protein C-terminus binding [GO:0008022]; central nervous system development [GO:0007417]; endocytosis [GO:0006897]; negative regulation of clathrin-dependent endocytosis [GO:1900186]; positive regulation of neuron differentiation [GO:0045666]; signal transduction [GO:0007165]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; Synonyms=EEN-B2-L1; IsoId=Q99963-1; Sequence=Displayed; Name=2; Synonyms=EEN-B2-L2; IsoId=Q99963-2; Sequence=VSP_001441; Name=3; Synonyms=EEN-B2-L3; IsoId=Q99963-3; Sequence=VSP_001440; Name=4; Synonyms=EEN-B2-L4; IsoId=Q99963-4; Sequence=VSP_001442; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250|UniProtKB:O35180}. Early endosome membrane {ECO:0000250|UniProtKB:O35180}; Peripheral membrane protein {ECO:0000250|UniProtKB:O35180}. Note=Associated with postsynaptic endosomes in hippocampal neurons. Associated with presynaptic endosomes in olfactory neurons. {ECO:0000250|UniProtKB:O35180}.


uniprotID: P0C7M3
geneSymbol: SFTA3
reactome: R-HSA-5683826;R-HSA-5688849;R-HSA-5688890;
name: Surfactant-associated protein 3 (Surfactant-associated protein H) (SP-H)
sequence: MRAGFSDFQLIRDQVLFLQDQAQRLTEWLQLSGFENPVSESTTLCLREREKRIPTCVAVCVPSPGTVHTALLHPTTLSQSRSSSEAKMLIIHTA
length: 94
go: ENSG00000229415;
opentargets:
clathrin-coated endocytic vesicle [GO:0045334]; endoplasmic reticulum membrane [GO:0005789]; extracellular region [GO:0005576]; lamellar body [GO:0042599]; cellular protein metabolic process [GO:0044267]

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:24743970}. Secreted {ECO:0000269|PubMed:24743970}.


uniprotID: O43147
geneSymbol: SGSM2
name: Small G protein signaling modulator 2 (RUN and TBC1 domain-containing protein 1)
length: 1006
go: ENSG00000141258;
snps: rs17853891 rs745400 rs17853888 rs17857178 rs2248821 rs17857180
sequence:

opentargets:
cytoplasm [GO:0005737]; melanosome [GO:0042470]; GTPase activator activity [GO:0005096]; Rab GTPase binding [GO:0017137]; activation of GTPase activity [GO:0090630]; intracellular protein transport [GO:0006886]; late endosome to Golgi transport [GO:0034499]; positive regulation of GTPase activity [GO:0043547]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=O43147-1; Sequence=Displayed; Name=2; IsoId=O43147-2; Sequence=VSP_024596; Name=3; IsoId=O43147-3; Sequence=VSP_024594, VSP_024595, VSP_024597, VSP_024598; Note=No experimental confirmation available.; Name=5; IsoId=O43147-5; Sequence=VSP_035964; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:26620560}. Melanosome {ECO:0000269|PubMed:26620560}. Note=Melanosomal localization is mediated by RAB9A. {ECO:0000269|PubMed:26620560}.


uniprotID: Q96HU1
geneSymbol: SGSM3
length: 749
go: ENSG00000100359;
snps: rs9611338 rs34243479
location: SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:15849434}.
name:
Small G protein signaling modulator 3 (Merlin-associated protein) (RUN and TBC1 domain-containing protein 3) (Rab-GTPase-activating protein-like protein) (RabGAPLP)

sequence:

opentargets:
cytosol [GO:0005829]; gap junction [GO:0005921]; GTPase activator activity [GO:0005096]; Rab GTPase binding [GO:0017137]; activation of GTPase activity [GO:0090630]; cell cycle arrest [GO:0007050]; intracellular protein transport [GO:0006886]; plasma membrane to endosome transport [GO:0048227]; positive regulation of GTPase activity [GO:0043547]; positive regulation of protein catabolic process [GO:0045732]; Rap protein signal transduction [GO:0032486]; regulation of Rab protein signal transduction [GO:0032483]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1 {ECO:0000269|PubMed:15461802, ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:15541357, ECO:0000269|PubMed:15849434, ECO:0000269|PubMed:17509819}; IsoId=Q96HU1-1; Sequence=Displayed; Name=2 {ECO:0000269|PubMed:10591208}; IsoId=Q96HU1-2; Sequence=VSP_052561; Note=Gene prediction based on EST data. {ECO:0000305}; 


uniprotID: Q5VZ18
geneSymbol: SHE
name: SH2 domain-containing adapter protein E
length: 495
go: ENSG00000169291;
opentargets: phosphotyrosine residue binding [GO:0001784]
sequence:


uniprotID: Q15464
geneSymbol: SHB
reactome: R-HSA-4420097;
name: SH2 domain-containing adapter protein B
length: 509
go: ENSG00000107338;
sequence:

opentargets:
cytoplasmic ribonucleoprotein granule [GO:0036464]; cytosol [GO:0005829]; nucleoplasm [GO:0005654]; plasma membrane [GO:0005886]; phosphotyrosine residue binding [GO:0001784]; SH3/SH2 adaptor activity [GO:0005070]; angiogenesis [GO:0001525]; apoptotic process [GO:0006915]; cell differentiation [GO:0030154]; signal transduction [GO:0007165]; vascular endothelial growth factor receptor signaling pathway [GO:0048010]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q15464-1; Sequence=Displayed; Name=2; IsoId=Q15464-2; Sequence=VSP_019846, VSP_019847; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasm. Cell membrane; Peripheral membrane protein; Cytoplasmic side. Note=Associates with membrane lipid rafts upon TCR stimulation.


uniprotID: Q9UHJ6
geneSymbol: SHPK
reactome: R-HSA-71336;
name: Sedoheptulokinase (SHK) (EC 2.7.1.14) (Carbohydrate kinase-like protein)
length: 478
snps: rs150857 rs224496 rs36125540
location: SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250}.
sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; ATP binding [GO:0005524]; sedoheptulokinase activity [GO:0050277]; carbohydrate metabolic process [GO:0005975]; cellular response to interleukin-13 [GO:0035963]; cellular response to interleukin-4 [GO:0071353]; cellular response to lipopolysaccharide [GO:0071222]; pentose-phosphate shunt [GO:0006098]; pentose-phosphate shunt, non-oxidative branch [GO:0009052]; phosphorylation [GO:0016310]; regulation of inflammatory response [GO:0050727]; regulation of macrophage activation [GO:0043030]


uniprotID: A6NKC9
geneSymbol: SH2D7
name: SH2 domain-containing protein 7
length: 451
go: ENSG00000183476;
opentargets: cytoplasm [GO:0005737]
snps: rs2289524 rs12593575
sequence:


uniprotID: Q92529
geneSymbol: SHC3
reactome: R-HSA-167044;R-HSA-5673001;R-HSA-8853659;
length: 594
go: ENSG00000148082;
name:
SHC-transforming protein 3 (Neuronal Shc) (N-Shc) (Protein Rai) (SHC-transforming protein C) (Src homology 2 domain-containing-transforming protein C3) (SH2 domain protein C3)

sequence:

opentargets:
cytosol [GO:0005829]; plasma membrane [GO:0005886]; phosphotyrosine residue binding [GO:0001784]; Ras guanyl-nucleotide exchange factor activity [GO:0005088]; receptor tyrosine kinase binding [GO:0030971]; axon guidance [GO:0007411]; central nervous system development [GO:0007417]; epidermal growth factor receptor signaling pathway [GO:0007173]; learning or memory [GO:0007611]; MAPK cascade [GO:0000165]; Ras protein signal transduction [GO:0007265]; synaptic transmission, glutamatergic [GO:0035249]; transmembrane receptor protein tyrosine kinase signaling pathway [GO:0007169]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=p64; IsoId=Q92529-1; Sequence=Displayed; Name=p52; IsoId=Q92529-2; Sequence=VSP_009805; 


uniprotID: Q8TBC3
geneSymbol: SHKBP1
pdb: 4CRH;
name: SH3KBP1-binding protein 1 (SETA-binding protein 1)
length: 707
go: ENSG00000160410;
snps: rs17855499
location: SUBCELLULAR LOCATION: Lysosome {ECO:0000269|PubMed:16733801}.
sequence:

opentargets:
lysosome [GO:0005764]; positive regulation of epidermal growth factor receptor signaling pathway [GO:0045742]; protein homooligomerization [GO:0051260]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q8TBC3-1; Sequence=Displayed; Name=2; IsoId=Q8TBC3-2; Sequence=VSP_028873, VSP_028874; Note=No experimental confirmation available.; 


uniprotID: Q9Y274
geneSymbol: ST3GAL6
reactome: R-HSA-1912420;R-HSA-2022854;R-HSA-4085001;
length: 331
go: ENSG00000064225;
snps: rs28489284
name:
Type 2 lactosamine alpha-2,3-sialyltransferase (EC 2.4.99.-) (CMP-NeuAc:beta-galactoside alpha-2,3-sialyltransferase VI) (ST3Gal VI) (ST3GalVI) (Sialyltransferase 10)

sequence:

opentargets:
extracellular exosome [GO:0070062]; Golgi membrane [GO:0000139]; integral component of membrane [GO:0016021]; beta-galactoside (CMP) alpha-2,3-sialyltransferase activity [GO:0003836]; beta-galactoside alpha-2,3-sialyltransferase activity [GO:0052798]; sialyltransferase activity [GO:0008373]; cellular protein modification process [GO:0006464]; cellular response to interleukin-6 [GO:0071354]; glycolipid biosynthetic process [GO:0009247]; glycolipid metabolic process [GO:0006664]; keratan sulfate biosynthetic process [GO:0018146]; oligosaccharide metabolic process [GO:0009311]; protein glycosylation [GO:0006486]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9Y274-1; Sequence=Displayed; Name=2; IsoId=Q9Y274-2; Sequence=VSP_047009, VSP_047010; 


uniprotID: O43173
geneSymbol: ST8SIA3
reactome: R-HSA-4085001;R-HSA-975577;
pdb: 5BO6;5BO7;5BO8;5BO9;5CXY;
length: 380
go: ENSG00000177511;
snps: rs3745060
name:
Sia-alpha-2,3-Gal-beta-1,4-GlcNAc-R:alpha 2,8-sialyltransferase (EC 2.4.99.-) (Alpha-2,8-sialyltransferase 8C) (Alpha-2,8-sialyltransferase III) (ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 3) (Sialyltransferase 8C) (SIAT8-C) (Sialyltransferase St8Sia III) (ST8SiaIII)

sequence:

opentargets:
Golgi membrane [GO:0000139]; integral component of membrane [GO:0016021]; alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity [GO:0003828]; identical protein binding [GO:0042802]; sialic acid binding [GO:0033691]; sialyltransferase activity [GO:0008373]; ganglioside biosynthetic process [GO:0001574]; glycoprotein metabolic process [GO:0009100]; glycosphingolipid biosynthetic process [GO:0006688]; N-glycan processing [GO:0006491]; oligosaccharide metabolic process [GO:0009311]; protein glycosylation [GO:0006486]; protein sialylation [GO:1990743]


uniprotID: Q11201
geneSymbol: ST3GAL1
reactome: R-HSA-2022854;R-HSA-4085001;R-HSA-977068;
length: 340
go: ENSG00000008513;
snps: rs116342938
name:
CMP-N-acetylneuraminate-beta-galactosamide-alpha-2,3-sialyltransferase 1 (Alpha 2,3-ST 1) (Beta-galactoside alpha-2,3-sialyltransferase 1) (EC 2.4.99.4) (Gal-NAc6S) (Gal-beta-1,3-GalNAc-alpha-2,3-sialyltransferase) (SIATFL) (ST3Gal I) (ST3GalI) (ST3GalA.1) (ST3O) (Sialyltransferase 4A) (SIAT4-A)

sequence:

opentargets:
extracellular exosome [GO:0070062]; Golgi cisterna membrane [GO:0032580]; Golgi membrane [GO:0000139]; integral component of membrane [GO:0016021]; membrane [GO:0016020]; beta-galactoside (CMP) alpha-2,3-sialyltransferase activity [GO:0003836]; cellular protein modification process [GO:0006464]; keratan sulfate biosynthetic process [GO:0018146]; N-acetylneuraminate metabolic process [GO:0006054]; O-glycan processing [GO:0016266]; protein N-linked glycosylation [GO:0006487]; protein phosphorylation [GO:0006468]; sialylation [GO:0097503]

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


uniprotID: Q9NR45
geneSymbol: NANS
reactome: R-HSA-4085001;
pdb: 1WVO;
length: 359
go: ENSG00000095380;
snps: rs1277263564 rs1058446 rs878852980 rs140402727 rs878852981 rs1024025721 rs878852982
name:
Sialic acid synthase (N-acetylneuraminate synthase) (EC 2.5.1.56) (N-acetylneuraminate-9-phosphate synthase) (EC 2.5.1.57) (N-acetylneuraminic acid phosphate synthase) (N-acetylneuraminic acid synthase)

sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; extracellular exosome [GO:0070062]; N-acetylneuraminate synthase activity [GO:0050462]; N-acylneuraminate cytidylyltransferase activity [GO:0008781]; N-acylneuraminate-9-phosphate synthase activity [GO:0047444]; carbohydrate biosynthetic process [GO:0016051]; CMP-N-acetylneuraminate biosynthetic process [GO:0006055]


uniprotID: Q11206
geneSymbol: ST3GAL4
reactome: R-HSA-1912420;R-HSA-2022854;R-HSA-4085001;R-HSA-975577;R-HSA-977068;
length: 333
go: ENSG00000110080;
name:
CMP-N-acetylneuraminate-beta-galactosamide-alpha-2,3-sialyltransferase 4 (Alpha 2,3-ST 4) (Beta-galactoside alpha-2,3-sialyltransferase 4) (EC 2.4.99.2) (EC 2.4.99.4) (Alpha 2,3-sialyltransferase IV) (Gal-NAc6S) (Gal-beta-1,4-GalNAc-alpha-2,3-sialyltransferase) (SAT-3) (ST-4) (ST3Gal IV) (ST3GalIV) (ST3GalA.2) (STZ) (Sialyltransferase 4C) (SIAT4-C)

sequence:

opentargets:
extracellular region [GO:0005576]; Golgi cisterna membrane [GO:0032580]; Golgi membrane [GO:0000139]; integral component of membrane [GO:0016021]; membrane [GO:0016020]; beta-galactoside (CMP) alpha-2,3-sialyltransferase activity [GO:0003836]; monosialoganglioside sialyltransferase activity [GO:0047288]; sialyltransferase activity [GO:0008373]; cognition [GO:0050890]; glycolipid biosynthetic process [GO:0009247]; glycoprotein biosynthetic process [GO:0009101]; keratan sulfate biosynthetic process [GO:0018146]; lipid glycosylation [GO:0030259]; O-glycan processing [GO:0016266]; oligosaccharide biosynthetic process [GO:0009312]; protein glycosylation [GO:0006486]; protein sialylation [GO:1990743]; sialylation [GO:0097503]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=7;  Name=1; Synonyms=B1; IsoId=Q11206-1; Sequence=Displayed; Name=2; Synonyms=A1; IsoId=Q11206-2; Sequence=VSP_001784; Name=3; Synonyms=A2; IsoId=Q11206-3; Sequence=VSP_001785; Name=4; Synonyms=C; IsoId=Q11206-4; Sequence=VSP_001786; Name=5; IsoId=Q11206-5; Sequence=VSP_021104; Name=6; IsoId=Q11206-6; Sequence=VSP_001784, VSP_021104; Name=7; IsoId=Q11206-7; Sequence=VSP_001785, VSP_021104; 

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


uniprotID: Q9HAT2
geneSymbol: SIAE
name: Sialate O-acetylesterase (EC 3.1.1.53) (H-Lse) (Sialic acid-specific 9-O-acetylesterase)
length: 523
go: ENSG00000110013;
location: SUBCELLULAR LOCATION: Lysosome {ECO:0000305}. Secreted.
sequence:

opentargets:
extracellular exosome [GO:0070062]; extracellular space [GO:0005615]; lysosome [GO:0005764]; sialate O-acetylesterase activity [GO:0001681]; carbohydrate metabolic process [GO:0005975]; regulation of immune system process [GO:0002682]

snps:
rs144571829 rs762824510 rs377634657 rs76655561 rs12282107 rs78778622 rs200739060 rs143070599 rs149466359 rs200862001 rs746914032 rs757586703 rs144510878 rs147649509 rs749579541 rs552372846 rs766047951 rs201877149 rs147161431 rs143668140 rs7941523 rs376857712 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9HAT2-1; Sequence=Displayed; Name=2; IsoId=Q9HAT2-2; Sequence=VSP_018993; Note=No experimental confirmation available.; 


uniprotID: Q8NDV1
geneSymbol: ST6GALNAC3
reactome: R-HSA-4085001;R-HSA-977068;
length: 305
go: ENSG00000184005;
snps: rs1184626
name:
Alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase 3 (EC 2.4.99.7) (GalNAc alpha-2,6-sialyltransferase III) (ST6GalNAc III) (ST6GalNAcIII) (STY) (Sialyltransferase 7C) (SIAT7-C)

sequence:

opentargets:
Golgi membrane [GO:0000139]; integral component of membrane [GO:0016021]; nucleoplasm [GO:0005654]; (alpha-N-acetylneuraminyl-2,3-beta-galactosyl-1,3)-N-acetyl-galactosaminide 6-alpha-sialyltransferase activity [GO:0047290]; alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase activity [GO:0001665]; sialyltransferase activity [GO:0008373]; ganglioside biosynthetic process [GO:0001574]; glycoprotein metabolic process [GO:0009100]; glycosphingolipid metabolic process [GO:0006687]; glycosylceramide metabolic process [GO:0006677]; protein glycosylation [GO:0006486]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q8NDV1-1; Sequence=Displayed; Name=2; IsoId=Q8NDV1-2; Sequence=VSP_013218, VSP_013219; 


uniprotID: Q9H0K1
geneSymbol: SIK2
length: 926
go: ENSG00000170145;
snps: rs35789057 rs34223841 rs55889697 rs45520245 rs45586732
location: SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250}.
name:
Serine/threonine-protein kinase SIK2 (EC 2.7.11.1) (Qin-induced kinase) (Salt-inducible kinase 2) (SIK-2) (Serine/threonine-protein kinase SNF1-like kinase 2)

sequence:

opentargets:
cytoplasm [GO:0005737]; nucleotide-activated protein kinase complex [GO:0031588]; nucleus [GO:0005634]; ATP binding [GO:0005524]; magnesium ion binding [GO:0000287]; protein serine/threonine kinase activity [GO:0004674]; cellular response to glucose starvation [GO:0042149]; intracellular signal transduction [GO:0035556]; negative regulation of TOR signaling [GO:0032007]; protein autophosphorylation [GO:0046777]; protein phosphorylation [GO:0006468]; regulation of insulin receptor signaling pathway [GO:0046626]


uniprotID: Q96QK8
geneSymbol: SMIM14
name: Small integral membrane protein 14
sequence: MAEGGFDPCECVCSHEHAMRRLINLLRQSQSYCTDTECLQELPGPSGDNGISVTMILVAWMVIALILFLLRPPNLRGSSLPGKPTSPHNGQDPPAPPVD
length: 99
go: ENSG00000163683;
opentargets:
endoplasmic reticulum [GO:0005783]; endoplasmic reticulum membrane [GO:0005789]; integral component of membrane [GO:0016021]; blastocyst hatching [GO:0001835]

location:
SUBCELLULAR LOCATION: Endoplasmic reticulum membrane {ECO:0000269|PubMed:24499674}; Single-pass membrane protein {ECO:0000269|PubMed:24499674}.


uniprotID: Q9Y336
geneSymbol: SIGLEC9
reactome: R-HSA-198933;R-HSA-6798695;
name: Sialic acid-binding Ig-like lectin 9 (Siglec-9) (CDw329) (Protein FOAP-9) (CD antigen CD329)
length: 463
go: ENSG00000129450;
snps: rs2075803 rs200658 rs16988910 rs273687 rs2258983 rs273688 rs273690
location: SUBCELLULAR LOCATION: Membrane; Single-pass type I membrane protein.
sequence:

opentargets:
integral component of plasma membrane [GO:0005887]; plasma membrane [GO:0005886]; secretory granule membrane [GO:0030667]; carbohydrate binding [GO:0030246]; cell adhesion [GO:0007155]; cell surface receptor signaling pathway [GO:0007166]; neutrophil degranulation [GO:0043312]; regulation of immune response [GO:0050776]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9Y336-1; Sequence=Displayed; Name=2; IsoId=Q9Y336-2; Sequence=VSP_054106; 


uniprotID: P0DL12
geneSymbol: SMIM17
name: Small integral membrane protein 17
length: 118
opentargets: integral component of membrane [GO:0016021]
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Single-pass membrane protein {ECO:0000305}.
sequence:
MQSLRPEQTRGLLEPERTKTLLPRESRAWEKPPHPACTKDWEAVEVGASSHDSDEKDLSSQETGLSQEWSSVEEDDESEGSQGFVEWSKAPQQTTIVLVVCVLFLFLVLTGMPMMFHI


uniprotID: Q96FS4
geneSymbol: SIPA1
reactome: R-HSA-392517;
length: 1042
go: ENSG00000213445;
snps: rs35045265 rs3741379 rs34912782 rs3741378
name:
Signal-induced proliferation-associated protein 1 (Sipa-1) (GTPase-activating protein Spa-1) (p130 SPA-1)

sequence:

opentargets:
cytosol [GO:0005829]; membrane [GO:0016020]; nucleus [GO:0005634]; perinuclear region of cytoplasm [GO:0048471]; protein-containing complex [GO:0032991]; transport vesicle [GO:0030133]; GTPase activator activity [GO:0005096]; protein C-terminus binding [GO:0008022]; cell proliferation [GO:0008283]; cellular response to water deprivation [GO:0042631]; cytoskeleton organization [GO:0007010]; intracellular signal transduction [GO:0035556]; negative regulation of cell adhesion [GO:0007162]; negative regulation of cell cycle [GO:0045786]; negative regulation of cell growth [GO:0030308]; regulation of small GTPase mediated signal transduction [GO:0051056]; signal transduction [GO:0007165]

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:9346962}. Cytoplasm, perinuclear region {ECO:0000269|PubMed:9346962}. Endomembrane system; Peripheral membrane protein {ECO:0000269|PubMed:9346962}. Note=Mostly localized in the perinuclear membraneous region. {ECO:0000269|PubMed:9346962}.


uniprotID: A0A0B4J2F2
geneSymbol: SIK1B
name: Probable serine/threonine-protein kinase SIK1B (EC 2.7.11.1) (Salt-inducible kinase 1B)
length: 783
go: ENSG00000275993;
sequence:

opentargets:
cytoplasm [GO:0005737]; nucleotide-activated protein kinase complex [GO:0031588]; nucleus [GO:0005634]; ATP binding [GO:0005524]; magnesium ion binding [GO:0000287]; protein serine/threonine kinase activity [GO:0004674]; cellular response to glucose starvation [GO:0042149]; intracellular signal transduction [GO:0035556]; negative regulation of TOR signaling [GO:0032007]; protein phosphorylation [GO:0006468]


uniprotID: Q8IXJ6
geneSymbol: SIRT2
length: 389
go: ENSG00000068903;
pdb:
1J8F;3ZGO;3ZGV;4L3O;4R8M;4RMG;4RMH;4RMI;4RMJ;4X3O;4X3P;4Y6L;4Y6O;4Y6Q;5D7O;5D7P;5D7Q;5DY4;5DY5;5FYQ;5G4C;5MAR;5MAT;5Y0Z;5Y5N;

name:
NAD-dependent protein deacetylase sirtuin-2 (EC 3.5.1.-) (Regulatory protein SIR2 homolog 2) (SIR2-like protein 2)

sequence:

opentargets:
centriole [GO:0005814]; centrosome [GO:0005813]; chromatin silencing complex [GO:0005677]; chromosome [GO:0005694]; chromosome, telomeric region [GO:0000781]; cytoplasm [GO:0005737]; cytosol [GO:0005829]; glial cell projection [GO:0097386]; growth cone [GO:0030426]; juxtaparanode region of axon [GO:0044224]; lateral loop [GO:0043219]; meiotic spindle [GO:0072687]; microtubule [GO:0005874]; midbody [GO:0030496]; mitochondrion [GO:0005739]; mitotic spindle [GO:0072686]; myelin sheath [GO:0043209]; nuclear heterochromatin [GO:0005720]; nucleolus [GO:0005730]; nucleus [GO:0005634]; paranodal junction [GO:0033010]; paranode region of axon [GO:0033270]; perikaryon [GO:0043204]; perinuclear region of cytoplasm [GO:0048471]; plasma membrane [GO:0005886]; Schmidt-Lanterman incisure [GO:0043220]; spindle [GO:0005819]; chromatin binding [GO:0003682]; histone acetyltransferase binding [GO:0035035]; histone deacetylase activity [GO:0004407]; histone deacetylase binding [GO:0042826]; NAD+ binding [GO:0070403]; NAD-dependent histone deacetylase activity [GO:0017136]; NAD-dependent histone deacetylase activity (H4-K16 specific) [GO:0046970]; NAD-dependent protein deacetylase activity [GO:0034979]; protein deacetylase activity [GO:0033558]; transcription factor binding [GO:0008134]; tubulin deacetylase activity [GO:0042903]; ubiquitin binding [GO:0043130]; zinc ion binding [GO:0008270]; autophagy [GO:0006914]; cell division [GO:0051301]; cellular lipid catabolic process [GO:0044242]; cellular response to caloric restriction [GO:0061433]; cellular response to epinephrine stimulus [GO:0071872]; cellular response to hepatocyte growth factor stimulus [GO:0035729]; cellular response to hypoxia [GO:0071456]; cellular response to molecule of bacterial origin [GO:0071219]; cellular response to oxidative stress [GO:0034599]; chromatin silencing [GO:0006342]; chromatin silencing at rDNA [GO:0000183]; chromatin silencing at telomere [GO:0006348]; gene silencing [GO:0016458]; hepatocyte growth factor receptor signaling pathway [GO:0048012]; histone deacetylation [GO:0016575]; histone H3 deacetylation [GO:0070932]; histone H4 deacetylation [GO:0070933]; innate immune response [GO:0045087]; meiotic cell cycle [GO:0051321]; myelination in peripheral nervous system [GO:0022011]; negative regulation of apoptotic process [GO:0043066]; negative regulation of autophagy [GO:0010507]; negative regulation of cell proliferation [GO:0008285]; negative regulation of defense response to bacterium [GO:1900425]; negative regulation of fat cell differentiation [GO:0045599]; negative regulation of NLRP3 inflammasome complex assembly [GO:1900226]; negative regulation of oligodendrocyte progenitor proliferation [GO:0070446]; negative regulation of peptidyl-threonine phosphorylation [GO:0010801]; negative regulation of protein catabolic process [GO:0042177]; negative regulation of reactive oxygen species metabolic process [GO:2000378]; negative regulation of striated muscle tissue development [GO:0045843]; negative regulation of transcription by RNA polymerase II [GO:0000122]; negative regulation of transcription from RNA polymerase II promoter in response to hypoxia [GO:0061428]; negative regulation of transcription, DNA-templated [GO:0045892]; peptidyl-lysine deacetylation [GO:0034983]; phosphatidylinositol 3-kinase signaling [GO:0014065]; positive regulation of attachment of spindle microtubules to kinetochore [GO:0051987]; positive regulation of cell division [GO:0051781]; positive regulation of DNA binding [GO:0043388]; positive regulation of execution phase of apoptosis [GO:1900119]; positive regulation of meiotic nuclear division [GO:0045836]; positive regulation of oocyte maturation [GO:1900195]; positive regulation of proteasomal ubiquitin-dependent protein catabolic process [GO:0032436]; positive regulation of proteasomal ubiquitin-dependent protein catabolic process involved in cellular response to hypoxia [GO:2000777]; positive regulation of transcription by RNA polymerase II [GO:0045944]; proteasome-mediated ubiquitin-dependent protein catabolic process [GO:0043161]; protein ADP-ribosylation [GO:0006471]; protein deacetylation [GO:0006476]; protein kinase B signaling [GO:0043491]; regulation of cell cycle [GO:0051726]; regulation of exit from mitosis [GO:0007096]; regulation of myelination [GO:0031641]; regulation of phosphorylation [GO:0042325]; response to redox state [GO:0051775]; substantia nigra development [GO:0021762]; tubulin deacetylation [GO:0090042]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=5;  Name=1; IsoId=Q8IXJ6-1; Sequence=Displayed; Name=2; IsoId=Q8IXJ6-2; Sequence=VSP_008724; Name=3; IsoId=Q8IXJ6-3; Sequence=VSP_008726; Note=No experimental confirmation available.; Name=4; IsoId=Q8IXJ6-4; Sequence=VSP_008727, VSP_008728; Note=No experimental confirmation available.; Name=5; IsoId=Q8IXJ6-5; Sequence=VSP_055328; Note=Lacks deacetylase activity, at least toward known SIRT2 targets.; 

location:
SUBCELLULAR LOCATION: Nucleus. Cytoplasm, perinuclear region. Cytoplasm. Cytoplasm, cytoskeleton. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome, centriole. Cytoplasm, cytoskeleton, spindle. Midbody. Chromosome. Perikaryon {ECO:0000250}. Cell projection {ECO:0000250}. Cell projection, growth cone {ECO:0000250}. Myelin membrane {ECO:0000250}. Note=Deacetylates FOXO3 in the cytoplasm. Colocalizes with PLP1 in internodal regions, at paranodal axoglial junction and Schmidt-Lanterman incisures of myelin sheat. Colocalizes with CDK5R1 in the perikaryon, neurites and growth cone of hippocampal neurons. Colocalizes with alpha-tubulin in neuronal growth cone. Localizes in the cytoplasm and nucleus of germinal vesicle (GV) stage oocytes. Colocalizes with alpha-tubulin on the meiotic spindle as the oocytes enter into metaphase, and also during meiotic anaphase and telophase, especially with the midbody. Colocalizes with PARD3 in internodal region of axons. Colocalizes with acetylated alpha-tubulin in cell projection processes during primary oligodendrocyte precursor (OLP) differentiation (By similarity). Localizes in the cytoplasm during most of the cell cycle except in the G2/M transition and during mitosis, where it is localized in association with chromatin and induces deacetylation of histone at 'Lys-16' (H4K16ac). Colocalizes with KMT5A at mitotic foci. Colocalizes with CDK1 at centrosome during prophase and splindle fibers during metaphase. Colocalizes with Aurora kinase AURKA at centrosome during early prophase and in the centrioles and growing mitotic spindle throughout metaphase. Colocalizes with Aurora kinase AURKB during cytokinesis with the midbody. Colocalizes with microtubules. Detected in perinuclear foci that may be aggresomes containing misfolded, ubiquitinated proteins. Shuttles between the cytoplasm and the nucleus through the CRM1 export pathway. Colocalizes with EP300 in the nucleus. Translocates to the nucleus and chromatin upon bacterium Listeria monocytogenes infection in interphase cells. {ECO:0000250}.; SUBCELLULAR LOCATION: Isoform 1: Cytoplasm {ECO:0000269|PubMed:24177535}. Nucleus {ECO:0000269|PubMed:24177535}. Note=Predominantly localized in the cytoplasmic.; SUBCELLULAR LOCATION: Isoform 2: Cytoplasm {ECO:0000269|PubMed:24177535}. Nucleus {ECO:0000269|PubMed:24177535}. Note=Predominantly localized in the cytoplasmic.; SUBCELLULAR LOCATION: Isoform 5: Cytoplasm {ECO:0000269|PubMed:24177535}. Nucleus {ECO:0000269|PubMed:24177535}. Note=Predominantly localized in the nucleus.


uniprotID: Q9NPC8
geneSymbol: SIX2
name: Homeobox protein SIX2 (Sine oculis homeobox homolog 2)
length: 291
go: ENSG00000170577;
snps: rs142188105 rs147806994 rs201675842
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000250|UniProtKB:Q62232}.
sequence:

opentargets:
nucleus [GO:0005634]; transcription factor complex [GO:0005667]; distal enhancer DNA-binding transcription activator activity, RNA polymerase II-specific [GO:0001205]; DNA-binding transcription factor activity [GO:0003700]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; protein-containing complex binding [GO:0044877]; proximal promoter DNA-binding transcription activator activity, RNA polymerase II-specific [GO:0001077]; RNA polymerase II proximal promoter sequence-specific DNA binding [GO:0000978]; transcription factor binding [GO:0008134]; transcription regulatory region sequence-specific DNA binding [GO:0000976]; anatomical structure development [GO:0048856]; anatomical structure morphogenesis [GO:0009653]; anterior/posterior axis specification [GO:0009948]; cell migration [GO:0016477]; cell proliferation [GO:0008283]; chondrocyte differentiation [GO:0002062]; condensed mesenchymal cell proliferation [GO:0072137]; embryonic cranial skeleton morphogenesis [GO:0048701]; embryonic digestive tract morphogenesis [GO:0048557]; kidney development [GO:0001822]; mesenchymal cell differentiation involved in kidney development [GO:0072161]; mesenchymal stem cell maintenance involved in nephron morphogenesis [GO:0072038]; mesenchymal stem cell proliferation [GO:0097168]; mesenchymal to epithelial transition involved in metanephros morphogenesis [GO:0003337]; mesodermal cell fate specification [GO:0007501]; middle ear morphogenesis [GO:0042474]; negative regulation of cell differentiation [GO:0045596]; negative regulation of transcription, DNA-templated [GO:0045892]; nephron development [GO:0072006]; nephron morphogenesis [GO:0072028]; positive regulation of chondrocyte proliferation [GO:1902732]; protein import into nucleus [GO:0006606]; regulation of branching involved in ureteric bud morphogenesis [GO:0090189]; regulation of chondrocyte differentiation [GO:0032330]; regulation of ossification [GO:0030278]


uniprotID: Q9NTG7
geneSymbol: SIRT3
reactome: R-HSA-2151201;
length: 399
go: ENSG00000142082;
drug: DB02059;
snps: rs28365927 rs11246020 rs3020901
pdb:
3GLR;3GLS;3GLT;3GLU;4BN4;4BN5;4BV3;4BVB;4BVE;4BVF;4BVG;4BVH;4C78;4C7B;4FVT;4FZ3;4HD8;4JSR;4JT8;4JT9;4O8Z;4V1C;5BWN;5BWO;5D7N;5H4D;5Y4H;5YTK;

name:
NAD-dependent protein deacetylase sirtuin-3, mitochondrial (hSIRT3) (EC 3.5.1.-) (Regulatory protein SIR2 homolog 3) (SIR2-like protein 3)

sequence:

opentargets:
cytoplasm [GO:0005737]; mitochondrial matrix [GO:0005759]; mitochondrion [GO:0005739]; protein-containing complex [GO:0032991]; enzyme binding [GO:0019899]; NAD+ ADP-ribosyltransferase activity [GO:0003950]; NAD+ binding [GO:0070403]; NAD-dependent histone deacetylase activity [GO:0017136]; NAD-dependent protein deacetylase activity [GO:0034979]; sequence-specific DNA binding [GO:0043565]; zinc ion binding [GO:0008270]; aerobic respiration [GO:0009060]; aging [GO:0007568]; mitochondrion organization [GO:0007005]; negative regulation of ERK1 and ERK2 cascade [GO:0070373]; negative regulation of reactive oxygen species metabolic process [GO:2000378]; peptidyl-lysine deacetylation [GO:0034983]; positive regulation of insulin secretion [GO:0032024]; protein ADP-ribosylation [GO:0006471]; protein deacetylation [GO:0006476]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9NTG7-1; Sequence=Displayed; Name=2; IsoId=Q9NTG7-2; Sequence=VSP_043792; 

location:
SUBCELLULAR LOCATION: Mitochondrion matrix {ECO:0000269|PubMed:12186850, ECO:0000269|PubMed:12374852, ECO:0000269|PubMed:16079181, ECO:0000269|PubMed:18215119, ECO:0000269|PubMed:23283301, ECO:0000269|PubMed:29445193}.


uniprotID: Q96BD8
geneSymbol: SKA1
reactome: R-HSA-141444;R-HSA-2467813;R-HSA-2500257;R-HSA-5663220;R-HSA-68877;
pdb: 4AJ5;4C9Y;4CA0;
name: Spindle and kinetochore-associated protein 1
length: 255
go: ENSG00000154839;
snps: rs6507992
sequence:

opentargets:
condensed chromosome outer kinetochore [GO:0000940]; cytosol [GO:0005829]; microtubule cytoskeleton [GO:0015630]; spindle microtubule [GO:0005876]; microtubule binding [GO:0008017]; cell division [GO:0051301]; chromosome segregation [GO:0007059]; mitotic cell cycle [GO:0000278]; regulation of microtubule polymerization or depolymerization [GO:0031110]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q96BD8-1; Sequence=Displayed; Name=2; IsoId=Q96BD8-2; Sequence=VSP_037250; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton, spindle {ECO:0000269|PubMed:15561729}. Chromosome, centromere, kinetochore {ECO:0000269|PubMed:17093495}. Note=Localizes to the outer kinetochore and spindle microtubules during mitosis in a NDC80 complex-dependent manner (PubMed:17093495). Localizes to both the mitotic spindle and kinetochore-associated proteins (PubMed:17093495). Associates with kinetochores following microtubule attachment from prometaphase, through mid-anaphase and then vanishes in telophase (PubMed:17093495). {ECO:0000269|PubMed:17093495}.


uniprotID: Q9Y6E7
geneSymbol: SIRT4
reactome: R-HSA-2151201;
length: 314
go: ENSG00000089163;
name:
NAD-dependent protein lipoamidase sirtuin-4, mitochondrial (EC 3.5.1.-) (NAD-dependent ADP-ribosyltransferase sirtuin-4) (EC 2.4.2.-) (NAD-dependent protein deacetylase sirtuin-4) (EC 3.5.1.-) (Regulatory protein SIR2 homolog 4) (SIR2-like protein 4)

sequence:

opentargets:
mitochondrial inner membrane [GO:0005743]; mitochondrial matrix [GO:0005759]; mitochondrion [GO:0005739]; biotinidase activity [GO:0047708]; lipoamidase activity [GO:0061690]; NAD+ ADP-ribosyltransferase activity [GO:0003950]; NAD+ binding [GO:0070403]; zinc ion binding [GO:0008270]; cellular response to DNA damage stimulus [GO:0006974]; cellular response to hypoxia [GO:0071456]; chromatin silencing [GO:0006342]; glutamine metabolic process [GO:0006541]; mitochondrion organization [GO:0007005]; negative regulation of cardiac muscle cell apoptotic process [GO:0010667]; negative regulation of fatty acid oxidation [GO:0046322]; negative regulation of insulin secretion [GO:0046676]; negative regulation of protein processing involved in protein targeting to mitochondrion [GO:1903217]; peptidyl-lysine deacetylation [GO:0034983]; positive regulation of lipid biosynthetic process [GO:0046889]; protein ADP-ribosylation [GO:0006471]; regulation of glutamine family amino acid metabolic process [GO:0000820]; regulation of pyruvate dehydrogenase activity [GO:1904182]; tricarboxylic acid metabolic process [GO:0072350]

location:
SUBCELLULAR LOCATION: Mitochondrion matrix {ECO:0000255|HAMAP-Rule:MF_03161, ECO:0000269|PubMed:16079181, ECO:0000269|PubMed:16959573, ECO:0000269|PubMed:17715127}.


uniprotID: O75563
geneSymbol: SKAP2
reactome: R-HSA-391160;
pdb: 3OMH;
length: 359
go: ENSG00000005020;
snps: rs1129771 rs17154402
location: SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:12893833}.
name:
Src kinase-associated phosphoprotein 2 (Pyk2/RAFTK-associated protein) (Retinoic acid-induced protein 70) (SKAP55 homolog) (SKAP-55HOM) (SKAP-HOM) (Src family-associated phosphoprotein 2) (Src kinase-associated phosphoprotein 55-related protein) (Src-associated adapter protein with PH and SH3 domains)

sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; nucleoplasm [GO:0005654]; plasma membrane [GO:0005886]; SH3/SH2 adaptor activity [GO:0005070]; B cell activation [GO:0042113]; negative regulation of cell proliferation [GO:0008285]; protein-containing complex assembly [GO:0065003]; signal transduction [GO:0007165]


uniprotID: P19634
geneSymbol: SLC9A1
reactome: R-HSA-2160916;R-HSA-425986;
pdb: 1Y4E;2BEC;2E30;2HTG;2KBV;2L0E;2MDF;2YGG;
length: 815
go: ENSG00000090020;
drug: DB00594;DB02624;
snps: rs786204831 rs35703140
name:
Sodium/hydrogen exchanger 1 (APNH) (Na(+)/H(+) antiporter, amiloride-sensitive) (Na(+)/H(+) exchanger 1) (NHE-1) (Solute carrier family 9 member 1)

sequence:

opentargets:
apical plasma membrane [GO:0016324]; basolateral plasma membrane [GO:0016323]; cation-transporting ATPase complex [GO:0090533]; cell surface [GO:0009986]; cytoplasm [GO:0005737]; endoplasmic reticulum [GO:0005783]; endoplasmic reticulum membrane [GO:0005789]; extracellular exosome [GO:0070062]; focal adhesion [GO:0005925]; integral component of membrane [GO:0016021]; integral component of plasma membrane [GO:0005887]; intercalated disc [GO:0014704]; lamellipodium [GO:0030027]; membrane raft [GO:0045121]; mitochondrion [GO:0005739]; nucleoplasm [GO:0005654]; perinuclear region of cytoplasm [GO:0048471]; plasma membrane [GO:0005886]; T-tubule [GO:0030315]; calcium-dependent protein binding [GO:0048306]; calmodulin binding [GO:0005516]; phosphatidylinositol-4,5-bisphosphate binding [GO:0005546]; potassium:proton antiporter activity [GO:0015386]; protein binding, bridging [GO:0030674]; protein phosphatase 2B binding [GO:0030346]; protein-containing complex scaffold activity [GO:0032947]; sodium:proton antiporter activity [GO:0015385]; sodium:proton antiporter activity involved in regulation of cardiac muscle cell membrane potential [GO:0086040]; solute:proton antiporter activity [GO:0015299]; cardiac muscle cell contraction [GO:0086003]; cardiac muscle cell differentiation [GO:0055007]; cell migration [GO:0016477]; cellular response to acidic pH [GO:0071468]; cellular response to antibiotic [GO:0071236]; cellular response to cold [GO:0070417]; cellular response to electrical stimulus [GO:0071257]; cellular response to epinephrine stimulus [GO:0071872]; cellular response to hypoxia [GO:0071456]; cellular response to insulin stimulus [GO:0032869]; cellular response to mechanical stimulus [GO:0071260]; cellular sodium ion homeostasis [GO:0006883]; hyaluronan catabolic process [GO:0030214]; ion transport [GO:0006811]; maintenance of cell polarity [GO:0030011]; negative regulation of apoptotic process [GO:0043066]; neuron death [GO:0070997]; positive regulation of action potential [GO:0045760]; positive regulation of apoptotic process [GO:0043065]; positive regulation of calcineurin-NFAT signaling cascade [GO:0070886]; positive regulation of calcium:sodium antiporter activity [GO:1903281]; positive regulation of cardiac muscle hypertrophy [GO:0010613]; positive regulation of cell growth [GO:0030307]; positive regulation of mitochondrial membrane permeability [GO:0035794]; positive regulation of the force of heart contraction [GO:0098735]; positive regulation of transcription by RNA polymerase II [GO:0045944]; potassium ion transmembrane transport [GO:0071805]; protein complex oligomerization [GO:0051259]; proton transmembrane transport [GO:1902600]; regulation of cardiac muscle cell membrane potential [GO:0086036]; regulation of cardiac muscle contraction by calcium ion signaling [GO:0010882]; regulation of focal adhesion assembly [GO:0051893]; regulation of intracellular pH [GO:0051453]; regulation of pH [GO:0006885]; regulation of sensory perception of pain [GO:0051930]; regulation of stress fiber assembly [GO:0051492]; regulation of the force of heart contraction by cardiac conduction [GO:0086092]; response to acidic pH [GO:0010447]; response to muscle stretch [GO:0035994]; sodium ion export across plasma membrane [GO:0036376]; sodium ion import across plasma membrane [GO:0098719]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P19634-1; Sequence=Displayed; Name=2; IsoId=P19634-2; Sequence=VSP_022101, VSP_022102; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Membrane; Multi-pass membrane protein. Endoplasmic reticulum membrane {ECO:0000250}; Multi-pass membrane protein {ECO:0000250}. Cell membrane; Multi-pass membrane protein. Note=Colocalizes with CHP1 at the reticulum endoplasmic (By similarity). Colocalizes with CHP1 and CHP2 at the plasma membrane. {ECO:0000250}.


uniprotID: Q9Y2E8
geneSymbol: SLC9A8
reactome: R-HSA-425986;
name: Sodium/hydrogen exchanger 8 (Na(+)/H(+) exchanger 8) (NHE-8) (Solute carrier family 9 member 8)
length: 581
go: ENSG00000197818;
sequence:

opentargets:
Golgi apparatus [GO:0005794]; Golgi membrane [GO:0000139]; integral component of membrane [GO:0016021]; potassium:proton antiporter activity [GO:0015386]; sodium:proton antiporter activity [GO:0015385]; ion transport [GO:0006811]; potassium ion transmembrane transport [GO:0071805]; regulation of intracellular pH [GO:0051453]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9Y2E8-1; Sequence=Displayed; Name=2; IsoId=Q9Y2E8-2; Sequence=VSP_037686; 

location:
SUBCELLULAR LOCATION: Golgi apparatus membrane {ECO:0000269|PubMed:15522866}; Multi-pass membrane protein {ECO:0000269|PubMed:15522866}.


uniprotID: Q14493
geneSymbol: SLBP
reactome: R-HSA-109688;R-HSA-159230;R-HSA-77588;
pdb: 2KJM;4L8R;4QOZ;
name: Histone RNA hairpin-binding protein (Histone stem-loop-binding protein)
length: 270
go: ENSG00000163950;
sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; histone pre-mRNA 3'end processing complex [GO:0071204]; nucleolus [GO:0005730]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; ribonucleoprotein complex [GO:1990904]; histone pre-mRNA DCP binding [GO:0071208]; histone pre-mRNA stem-loop binding [GO:0071207]; mRNA binding [GO:0003729]; RNA binding [GO:0003723]; cell cycle phase transition [GO:0044770]; histone mRNA metabolic process [GO:0008334]; mRNA 3'-end processing by stem-loop binding and cleavage [GO:0006398]; mRNA export from nucleus [GO:0006406]; mRNA transport [GO:0051028]; nuclear DNA replication [GO:0033260]; termination of RNA polymerase II transcription [GO:0006369]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q14493-1; Sequence=Displayed; Name=2; IsoId=Q14493-2; Sequence=VSP_042164; 

location:
SUBCELLULAR LOCATION: Cytoplasm. Nucleus. Note=Polyribosome-associated. Localizes predominantly in the nucleus at the G1/G2 phases and the beginning of S phase. Through the S phase, partially redistributes to the cytoplasm. Binding to histone mRNA is necessary for cytoplasmic localization. Shuttles between the nucleus and the cytoplasm. Imported in the nucleus by the Importin alpha/Importin beta receptor.


uniprotID: Q8IVB4
geneSymbol: SLC9A9
reactome: R-HSA-425986;R-HSA-5619052;
name: Sodium/hydrogen exchanger 9 (Na(+)/H(+) exchanger 9) (NHE-9) (Solute carrier family 9 member 9)
length: 645
go: ENSG00000181804;
snps: rs16853300 rs2289491
sequence:

opentargets:
integral component of membrane [GO:0016021]; late endosome membrane [GO:0031902]; plasma membrane [GO:0005886]; recycling endosome [GO:0055037]; potassium:proton antiporter activity [GO:0015386]; sodium:proton antiporter activity [GO:0015385]; ion transport [GO:0006811]; potassium ion transmembrane transport [GO:0071805]; regulation of intracellular pH [GO:0051453]; sodium ion import across plasma membrane [GO:0098719]

location:
SUBCELLULAR LOCATION: Late endosome membrane {ECO:0000269|PubMed:15522866}; Multi-pass membrane protein {ECO:0000269|PubMed:15522866}.


uniprotID: Q4ZJI4
geneSymbol: SLC9B1
reactome: R-HSA-2672351;
length: 515
go: ENSG00000164037;
snps: rs2715591
name:
Sodium/hydrogen exchanger 9B1 (Na(+)/H(+) exchanger-like domain-containing protein 1) (NHE domain-containing protein 1) (Sodium/hydrogen exchanger-like domain-containing protein 1) (Solute carrier family 9, subfamily B member 1)

sequence:

opentargets:
integral component of membrane [GO:0016021]; plasma membrane [GO:0005886]; sperm principal piece [GO:0097228]; sodium:proton antiporter activity [GO:0015385]; flagellated sperm motility [GO:0030317]; ion transmembrane transport [GO:0034220]; regulation of intracellular pH [GO:0051453]; single fertilization [GO:0007338]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=Q4ZJI4-1; Sequence=Displayed; Name=2; IsoId=Q4ZJI4-2; Sequence=VSP_030175, VSP_030180; Note=May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.; Name=3; IsoId=Q4ZJI4-3; Sequence=VSP_030180; Name=4; IsoId=Q4ZJI4-5; Sequence=VSP_030176, VSP_030177; Note=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: Cell projection, cilium, flagellum membrane {ECO:0000250|UniProtKB:Q8C0X2}; Multi-pass membrane protein {ECO:0000255}.


uniprotID: Q4G0N8
geneSymbol: SLC9C1
reactome: R-HSA-2672351;
length: 1177
go: ENSG00000172139;
snps: rs9828502 rs9872691 rs9809404 rs9809384 rs6768523 rs4434123 rs6781844 rs9288938 rs28516377
name:
Sodium/hydrogen exchanger 10 (Na(+)/H(+) exchanger 10) (NHE-10) (Solute carrier family 9 member 10) (Solute carrier family 9 member C1) (Sperm-specific Na(+)/H(+) exchanger) (sNHE)

sequence:

opentargets:
integral component of membrane [GO:0016021]; motile cilium [GO:0031514]; plasma membrane [GO:0005886]; ion channel activity [GO:0005216]; potassium:proton antiporter activity [GO:0015386]; sodium:proton antiporter activity [GO:0015385]; cell differentiation [GO:0030154]; flagellated sperm motility [GO:0030317]; multicellular organism development [GO:0007275]; potassium ion transmembrane transport [GO:0071805]; regulation of intracellular pH [GO:0051453]; sodium ion import across plasma membrane [GO:0098719]; spermatogenesis [GO:0007283]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q4G0N8-1; Sequence=Displayed; Name=2; IsoId=Q4G0N8-2; Sequence=VSP_027010; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cell projection, cilium, flagellum membrane {ECO:0000250}; Multi-pass membrane protein {ECO:0000250}.


uniprotID: P01286
geneSymbol: GHRH
reactome: R-HSA-418555;R-HSA-420092;
pdb: 5BQM;
length: 108
go: ENSG00000118702;
snps: rs17787698 rs4988492
location: SUBCELLULAR LOCATION: Secreted.
name:
Somatoliberin (Growth hormone-releasing factor) (GRF) (Growth hormone-releasing hormone) (GHRH) (Somatocrinin) (Somatorelin) (Sermorelin)

sequence:
MPLWVFFFVILTLSNSSHCSPPPPLTLRMRRYADAIFTNSYRKVLGQLSARKLLQDIMSRQQGESNQERGARARLGRQVDSMWAEQKQMELESILVALLQKHSRNSQG

opentargets:
axon terminus [GO:0043679]; extracellular region [GO:0005576]; extracellular space [GO:0005615]; intracellular [GO:0005622]; neuron projection [GO:0043005]; perikaryon [GO:0043204]; terminal bouton [GO:0043195]; growth hormone-releasing hormone activity [GO:0016608]; growth hormone-releasing hormone receptor binding [GO:0031770]; neuropeptide hormone activity [GO:0005184]; peptide hormone receptor binding [GO:0051428]; adenohypophysis development [GO:0021984]; adenylate cyclase-activating G protein-coupled receptor signaling pathway [GO:0007189]; cell-cell signaling [GO:0007267]; cellular response to calcium ion [GO:0071277]; cellular response to interleukin-6 [GO:0071354]; circadian sleep/wake cycle, non-REM sleep [GO:0042748]; G protein-coupled receptor signaling pathway [GO:0007186]; growth hormone secretion [GO:0030252]; negative regulation of cardiac muscle cell apoptotic process [GO:0010667]; positive regulation of cell proliferation [GO:0008284]; positive regulation of circadian sleep/wake cycle, non-REM sleep [GO:0046010]; positive regulation of circadian sleep/wake cycle, REM sleep [GO:0046005]; positive regulation of cytosolic calcium ion concentration [GO:0007204]; positive regulation of growth hormone secretion [GO:0060124]; positive regulation of insulin secretion [GO:0032024]; positive regulation of insulin-like growth factor receptor signaling pathway [GO:0043568]; positive regulation of lactation [GO:1903489]; positive regulation of multicellular organism growth [GO:0040018]; positive regulation of transcription, DNA-templated [GO:0045893]; response to dexamethasone [GO:0071548]; response to food [GO:0032094]; response to hypoxia [GO:0001666]; response to leptin [GO:0044321]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P01286-1; Sequence=Displayed; Name=2; IsoId=P01286-2; Sequence=VSP_023146; 


uniprotID: Q9H156
geneSymbol: SLITRK2
reactome: R-HSA-388844;
name: SLIT and NTRK-like protein 2
length: 845
go: ENSG00000185985;
snps: rs1239180055 rs2295336
sequence:

opentargets:
GABA-ergic synapse [GO:0098982]; glutamatergic synapse [GO:0098978]; integral component of membrane [GO:0016021]; plasma membrane [GO:0005886]; axonogenesis [GO:0007409]; positive regulation of synapse assembly [GO:0051965]; regulation of presynapse assembly [GO:1905606]; regulation of synapse organization [GO:0050807]; synaptic membrane adhesion [GO:0099560]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1 {ECO:0000305}; IsoId=Q9H156-1; Sequence=Displayed; Name=2 {ECO:0000305}; IsoId=Q9H156-2; Sequence=VSP_050706, VSP_050707; Note=No experimental confirmation available. {ECO:0000305}; 

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


uniprotID: Q14BN4
geneSymbol: SLMAP
pdb: 6AR0;6AR2;
name: Sarcolemmal membrane-associated protein (Sarcolemmal-associated protein)
length: 828
go: ENSG00000163681;
sequence:

opentargets:
integral component of plasma membrane [GO:0005887]; microtubule organizing center [GO:0005815]; sarcolemma [GO:0042383]; smooth endoplasmic reticulum [GO:0005790]; muscle contraction [GO:0006936]; protein localization to plasma membrane [GO:0072659]; regulation of membrane depolarization during cardiac muscle cell action potential [GO:1900825]; regulation of sodium ion transmembrane transport [GO:1902305]; regulation of voltage-gated sodium channel activity [GO:1905150]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=8;  Name=1; IsoId=Q14BN4-1; Sequence=Displayed; Name=2; IsoId=Q14BN4-2; Sequence=VSP_021502; Name=3; IsoId=Q14BN4-3; Sequence=VSP_021503; Note=Incomplete sequence.; Name=4; IsoId=Q14BN4-4; Sequence=VSP_021500, VSP_021501, VSP_021512; Name=5; IsoId=Q14BN4-5; Sequence=VSP_021499, VSP_021513; Name=6; IsoId=Q14BN4-6; Sequence=VSP_021505, VSP_021508, VSP_021509; Name=7; IsoId=Q14BN4-7; Sequence=VSP_021504, VSP_021506; Note=No experimental confirmation available.; Name=8; IsoId=Q14BN4-8; Sequence=VSP_021499, VSP_021507, VSP_021510, VSP_021511; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cell membrane, sarcolemma {ECO:0000250}; Single-pass type IV membrane protein {ECO:0000250}. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome {ECO:0000250}. Note=Membrane-associated. Distributed in the transverse tubules and near the junctional sarcoplasmic reticulum. Detected along the Z- and M-lines in cardiomyocytes. Centrosome. Localizes to the centrosomes in a microtubule- dependent manner (By similarity). {ECO:0000250}.


uniprotID: Q68CJ6
geneSymbol: NUGGC
name: Nuclear GTPase SLIP-GC (EC 3.6.1.-) (Speckled-like pattern in the germinal center)
length: 796
go: ENSG00000189233;
snps: rs6998705 rs4732620 rs7817227 rs13279787 rs2305453
location: SUBCELLULAR LOCATION: Nucleus speckle {ECO:0000269|PubMed:19734146}.
sequence:

opentargets:
nuclear speck [GO:0016607]; GTP binding [GO:0005525]; GTPase activity [GO:0003924]; cellular response to lipopolysaccharide [GO:0071222]; negative regulation of apoptotic process [GO:0043066]; regulation of DNA stability [GO:0097752]; regulation of nuclear cell cycle DNA replication [GO:0033262]


uniprotID: Q9GZT3
geneSymbol: SLIRP
name: SRA stem-loop-interacting RNA-binding protein, mitochondrial
length: 109
go: ENSG00000119705;
sequence:
MAASAARGAAALRRSINQPVAFVRRIPWTAASSQLKEHFAQFGHVRRCILPFDKETGFHRGLGWVQFSSEEGLRNALQQENHIIDGVKVQVHTRRPKLPQTSDDEKKDF

opentargets:
acrosomal vesicle [GO:0001669]; mitochondrion [GO:0005739]; nucleus [GO:0005634]; perinuclear region of cytoplasm [GO:0048471]; ribonucleoprotein complex [GO:1990904]; sperm flagellum [GO:0036126]; RNA binding [GO:0003723]; flagellated sperm motility [GO:0030317]; mitochondrion morphogenesis [GO:0070584]; negative regulation of mitochondrial RNA catabolic process [GO:0000961]; single fertilization [GO:0007338]; spermatid development [GO:0007286]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9GZT3-1; Sequence=Displayed; Name=2; IsoId=Q9GZT3-2; Sequence=VSP_047350; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Mitochondrion {ECO:0000269|PubMed:16762838}. Nucleus {ECO:0000269|PubMed:16762838}. Note=Predominantly mitochondrial. Some fraction is nuclear. In the nucleus, it is recruited to nuclear receptor target promoters.


uniprotID: Q7Z7L1
geneSymbol: SLFN11
name: Schlafen family member 11 (EC 3.6.-.-)
length: 901
go: ENSG00000172716;
snps: rs12453150 rs4796077 rs9898983 rs3803860
sequence:

opentargets:
aggresome [GO:0016235]; cytosol [GO:0005829]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; site of DNA damage [GO:0090734]; ATP binding [GO:0005524]; ATPase activity [GO:0016887]; helicase activity [GO:0004386]; tRNA binding [GO:0000049]; cellular response to DNA damage stimulus [GO:0006974]; defense response to virus [GO:0051607]; negative regulation of DNA replication [GO:0008156]; negative regulation of G1/S transition of mitotic cell cycle [GO:2000134]; positive regulation of cell death [GO:0010942]; replication fork arrest [GO:0043111]

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:22927417, ECO:0000269|PubMed:26658330, ECO:0000269|PubMed:29395061}. Chromosome {ECO:0000269|PubMed:26658330, ECO:0000269|PubMed:29395061}. Note=Recruited to stressed replication forks carrying extended RPA filaments (PubMed:29395061). Recruited to DNA damage sites via interaction with RPA1 (PubMed:26658330, PubMed:29395061). {ECO:0000269|PubMed:26658330, ECO:0000269|PubMed:29395061}.


uniprotID: O95391
geneSymbol: SLU7
reactome: R-HSA-109688;R-HSA-159236;R-HSA-72163;R-HSA-72187;
pdb: 5XJC;
name: Pre-mRNA-splicing factor SLU7 (hSlu7)
length: 586
go: ENSG00000164609;
snps: rs17856338 rs2961944
sequence:

opentargets:
catalytic step 2 spliceosome [GO:0071013]; cytoplasm [GO:0005737]; cytosol [GO:0005829]; intracellular membrane-bounded organelle [GO:0043231]; membrane [GO:0016020]; nuclear speck [GO:0016607]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; small nuclear ribonucleoprotein complex [GO:0030532]; spliceosomal complex [GO:0005681]; pre-mRNA 3'-splice site binding [GO:0030628]; second spliceosomal transesterification activity [GO:0000386]; zinc ion binding [GO:0008270]; alternative mRNA splicing, via spliceosome [GO:0000380]; cellular response to heat [GO:0034605]; intracellular protein transport [GO:0006886]; mRNA 3'-end processing [GO:0031124]; mRNA 3'-splice site recognition [GO:0000389]; mRNA export from nucleus [GO:0006406]; mRNA splicing, via spliceosome [GO:0000398]; RNA export from nucleus [GO:0006405]; RNA splicing, via transesterification reactions [GO:0000375]

location:
SUBCELLULAR LOCATION: Nucleus. Cytoplasm. Note=Predominantly nuclear. Shuttling between the nucleus and the cytoplasm is regulated by the CCHC-type zinc finger. Upon UV-C stress stimulus, the nuclear concentration of the protein decreases, affecting alternative splicing. Translocates from the nucleus to the cytoplasm after heat shock cell treatment. Accumulates in cytoplasmic vesicle-like organelles after heat shock treatment, which may represent stress granules.


uniprotID: Q5VYV7
geneSymbol: SLX4IP
name: Protein SLX4IP (SLX4-interacting protein)
length: 408
go: ENSG00000149346;
snps: rs6077853
sequence:


uniprotID: P0DPE8
geneSymbol: SMIM34B
name: Small integral membrane protein 34B
length: 139
opentargets: integral component of membrane [GO:0016021]
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Single-pass membrane protein {ECO:0000305}.
sequence:
MEWAKWTPHEASNQTQASTLLGLLLGDHTEGRNDTNSTRALKVPDGTSAAWYILTIIGIYAVIFVFRLASNILRKNDKSLEDVYYSNLTSELKMTGLQGKVAKCSTLSISNRAVLQPCQAHLGAKGGSSGPQTATPETP


uniprotID: Q15797
geneSymbol: SMAD1
reactome: R-HSA-201451;R-HSA-5689880;R-HSA-8941326;
pdb: 1KHU;2LAW;2LAX;2LAY;2LAZ;2LB0;2LB1;3Q47;3Q4A;
length: 465
go: ENSG00000170365;
snps: rs587777018
name:
Mothers against decapentaplegic homolog 1 (MAD homolog 1) (Mothers against DPP homolog 1) (JV4-1) (Mad-related protein 1) (SMAD family member 1) (SMAD 1) (Smad1) (hSMAD1) (Transforming growth factor-beta-signaling protein 1) (BSP-1)

sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; integral component of membrane [GO:0016021]; intracellular [GO:0005622]; nuclear inner membrane [GO:0005637]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; protein-containing complex [GO:0032991]; SMAD protein complex [GO:0071141]; transcription factor complex [GO:0005667]; co-SMAD binding [GO:0070410]; DEAD/H-box RNA helicase binding [GO:0017151]; DNA-binding transcription factor activity [GO:0003700]; 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]; primary miRNA binding [GO:0070878]; protein heterodimerization activity [GO:0046982]; protein homodimerization activity [GO:0042803]; protein kinase binding [GO:0019901]; proximal promoter DNA-binding transcription activator activity, RNA polymerase II-specific [GO:0001077]; RNA polymerase II proximal promoter sequence-specific DNA binding [GO:0000978]; transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity [GO:0030618]; BMP signaling pathway [GO:0030509]; bone development [GO:0060348]; cardiac muscle cell proliferation [GO:0060038]; cartilage development [GO:0051216]; cellular response to organic cyclic compound [GO:0071407]; embryonic pattern specification [GO:0009880]; gamete generation [GO:0007276]; hindbrain development [GO:0030902]; homeostatic process [GO:0042592]; inflammatory response [GO:0006954]; MAPK cascade [GO:0000165]; mesodermal cell fate commitment [GO:0001710]; midbrain development [GO:0030901]; negative regulation of cell proliferation [GO:0008285]; osteoblast fate commitment [GO:0002051]; positive regulation of cartilage development [GO:0061036]; positive regulation of gene expression [GO:0010628]; positive regulation of osteoblast differentiation [GO:0045669]; positive regulation of pri-miRNA transcription by RNA polymerase II [GO:1902895]; positive regulation of sprouting angiogenesis [GO:1903672]; 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]; primary miRNA processing [GO:0031053]; protein deubiquitination [GO:0016579]; signal transduction [GO:0007165]; SMAD protein complex assembly [GO:0007183]; SMAD protein signal transduction [GO:0060395]; transforming growth factor beta receptor signaling pathway [GO:0007179]; ureteric bud development [GO:0001657]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q15797-1; Sequence=Displayed; Name=2; IsoId=Q15797-2; Sequence=VSP_057163, VSP_057164, VSP_057165, VSP_057166; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:15647271}. Nucleus {ECO:0000269|PubMed:15647271, ECO:0000269|PubMed:22781750}. Note=Cytoplasmic in the absence of ligand. Migrates to the nucleus when complexed with SMAD4 (PubMed:15647271). Co-localizes with LEMD3 at the nucleus inner membrane (PubMed:15647271). Exported from the nucleus to the cytoplasm when dephosphorylated (By similarity). {ECO:0000250|UniProtKB:P70340, ECO:0000269|PubMed:15647271}.


uniprotID: P84022
geneSymbol: SMAD3
pdb: 1MHD;1MJS;1MK2;1OZJ;1U7F;2LAJ;2LB2;5OD6;5ODG;5XOC;
length: 425
go: ENSG00000166949;
snps: rs387906854 rs35874463 rs387906853 rs387906851 rs387906852 rs387906850
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-5689880;R-HSA-8941855;R-HSA-8952158;R-HSA-9008059;R-HSA-9013695;

name:
Mothers against decapentaplegic homolog 3 (MAD homolog 3) (Mad3) (Mothers against DPP homolog 3) (hMAD-3) (JV15-2) (SMAD family member 3) (SMAD 3) (Smad3) (hSMAD3)

sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; heteromeric SMAD protein complex [GO:0071144]; nuclear chromatin [GO:0000790]; nuclear inner membrane [GO:0005637]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; plasma membrane [GO:0005886]; receptor complex [GO:0043235]; SMAD protein complex [GO:0071141]; transcription factor complex [GO:0005667]; beta-catenin binding [GO:0008013]; bHLH transcription factor binding [GO:0043425]; chromatin DNA binding [GO:0031490]; co-SMAD binding [GO:0070410]; collagen binding [GO:0005518]; DEAD/H-box RNA helicase binding [GO:0017151]; DNA-binding transcription activator activity, RNA polymerase II-specific [GO:0001228]; DNA-binding transcription factor activity [GO:0003700]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; enhancer binding [GO:0035326]; glucocorticoid receptor binding [GO:0035259]; identical protein binding [GO:0042802]; mineralocorticoid receptor binding [GO:0031962]; phosphatase binding [GO:0019902]; primary miRNA binding [GO:0070878]; protein heterodimerization activity [GO:0046982]; protein homodimerization activity [GO:0042803]; protein kinase binding [GO:0019901]; proximal promoter sequence-specific DNA binding [GO:0000987]; R-SMAD binding [GO:0070412]; RNA polymerase II activating transcription factor binding [GO:0001102]; RNA polymerase II proximal promoter sequence-specific DNA binding [GO:0000978]; sequence-specific DNA binding [GO:0043565]; transcription coregulator activity [GO:0003712]; transcription factor activity, RNA polymerase II core promoter sequence-specific DNA binding [GO:0000983]; transcription factor binding [GO:0008134]; transcription regulatory region DNA binding [GO:0044212]; transforming growth factor beta receptor binding [GO:0005160]; transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity [GO:0030618]; ubiquitin binding [GO:0043130]; ubiquitin protein ligase binding [GO:0031625]; zinc ion binding [GO:0008270]; activation of cysteine-type endopeptidase activity involved in apoptotic process [GO:0006919]; activation of cysteine-type endopeptidase activity involved in apoptotic signaling pathway [GO:0097296]; activin receptor signaling pathway [GO:0032924]; adrenal gland development [GO:0030325]; cell cycle arrest [GO:0007050]; cell-cell junction organization [GO:0045216]; cellular response to cytokine stimulus [GO:0071345]; cellular response to transforming growth factor beta stimulus [GO:0071560]; developmental growth [GO:0048589]; embryonic cranial skeleton morphogenesis [GO:0048701]; embryonic foregut morphogenesis [GO:0048617]; embryonic pattern specification [GO:0009880]; endoderm development [GO:0007492]; evasion or tolerance of host defenses by virus [GO:0019049]; extrinsic apoptotic signaling pathway [GO:0097191]; heart looping [GO:0001947]; immune response [GO:0006955]; immune system development [GO:0002520]; in utero embryonic development [GO:0001701]; lens fiber cell differentiation [GO:0070306]; liver development [GO:0001889]; mesoderm formation [GO:0001707]; negative regulation of apoptotic process [GO:0043066]; negative regulation of cardiac muscle hypertrophy in response to stress [GO:1903243]; negative regulation of cell growth [GO:0030308]; negative regulation of cytosolic calcium ion concentration [GO:0051481]; negative regulation of fat cell differentiation [GO:0045599]; negative regulation of inflammatory response [GO:0050728]; negative regulation of lung blood pressure [GO:0061767]; negative regulation of mitotic cell cycle [GO:0045930]; negative regulation of osteoblast differentiation [GO:0045668]; negative regulation of osteoblast proliferation [GO:0033689]; negative regulation of protein catabolic process [GO:0042177]; negative regulation of transcription by RNA polymerase II [GO:0000122]; negative regulation of transforming growth factor beta receptor signaling pathway [GO:0030512]; negative regulation of wound healing [GO:0061045]; nodal signaling pathway [GO:0038092]; osteoblast development [GO:0002076]; paraxial mesoderm morphogenesis [GO:0048340]; pericardium development [GO:0060039]; positive regulation of alkaline phosphatase activity [GO:0010694]; positive regulation of bone mineralization [GO:0030501]; positive regulation of canonical Wnt signaling pathway [GO:0090263]; positive regulation of cell migration [GO:0030335]; positive regulation of chondrocyte differentiation [GO:0032332]; positive regulation of DNA-binding transcription factor activity [GO:0051091]; positive regulation of epithelial to mesenchymal transition [GO:0010718]; positive regulation of extracellular matrix assembly [GO:1901203]; positive regulation of focal adhesion assembly [GO:0051894]; positive regulation of gene expression [GO:0010628]; positive regulation of interleukin-1 beta production [GO:0032731]; positive regulation of nitric oxide biosynthetic process [GO:0045429]; positive regulation of positive chemotaxis [GO:0050927]; positive regulation of pri-miRNA transcription by RNA polymerase II [GO:1902895]; positive regulation of protein import into nucleus [GO:0042307]; positive regulation of stress fiber assembly [GO:0051496]; positive regulation of transcription by RNA polymerase II [GO:0045944]; positive regulation of transcription, DNA-templated [GO:0045893]; positive regulation of transforming growth factor beta3 production [GO:0032916]; primary miRNA processing [GO:0031053]; protein deubiquitination [GO:0016579]; protein stabilization [GO:0050821]; regulation of binding [GO:0051098]; regulation of epithelial cell proliferation [GO:0050678]; regulation of immune response [GO:0050776]; regulation of striated muscle tissue development [GO:0016202]; regulation of transcription by RNA polymerase II [GO:0006357]; 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]; signal transduction involved in regulation of gene expression [GO:0023019]; SMAD protein complex assembly [GO:0007183]; SMAD protein signal transduction [GO:0060395]; somitogenesis [GO:0001756]; T cell activation [GO:0042110]; thyroid gland development [GO:0030878]; transdifferentiation [GO:0060290]; transforming growth factor beta receptor signaling pathway [GO:0007179]; ureteric bud development [GO:0001657]; wound healing [GO:0042060]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=P84022-1; Sequence=Displayed; Name=2; IsoId=P84022-2; Sequence=VSP_042900; Note=No experimental confirmation available.; Name=3; IsoId=P84022-3; Sequence=VSP_043793; Name=4; IsoId=P84022-4; Sequence=VSP_045348; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:15799969, ECO:0000269|PubMed:16156666, ECO:0000269|PubMed:16751101, ECO:0000269|PubMed:17327236, ECO:0000269|PubMed:19218245, ECO:0000269|PubMed:19289081, ECO:0000269|PubMed:22781750}. Nucleus {ECO:0000269|PubMed:15601644, ECO:0000269|PubMed:15799969, ECO:0000269|PubMed:16156666, ECO:0000269|PubMed:16751101, ECO:0000269|PubMed:19218245, ECO:0000269|PubMed:19289081, ECO:0000269|PubMed:22781750}. Note=Cytoplasmic and nuclear in the absence of TGF-beta. On TGF-beta stimulation, migrates to the nucleus when complexed with SMAD4 (PubMed:15799969). Through the action of the phosphatase PPM1A, released from the SMAD2/SMAD4 complex, and exported out of the nucleus by interaction with RANBP1 (PubMed:16751101, PubMed:19289081). Co-localizes with LEMD3 at the nucleus inner membrane (PubMed:15601644). MAPK-mediated phosphorylation appears to have no effect on nuclear import (PubMed:19218245). PDPK1 prevents its nuclear translocation in response to TGF-beta (PubMed:17327236). {ECO:0000269|PubMed:15601644, ECO:0000269|PubMed:15799969, ECO:0000269|PubMed:16751101, ECO:0000269|PubMed:17327236, ECO:0000269|PubMed:19218245, ECO:0000269|PubMed:19289081}.


uniprotID: Q14683
geneSymbol: SMC1A
reactome: R-HSA-1221632;R-HSA-2467813;R-HSA-2468052;R-HSA-2470946;R-HSA-2500257;R-HSA-3108214;R-HSA-9018519;
name: Structural maintenance of chromosomes protein 1A (SMC protein 1A) (SMC-1-alpha) (SMC-1A) (Sb1.8)
length: 1233
go: ENSG00000072501;
sequence:

opentargets:
chromosome [GO:0005694]; chromosome, centromeric region [GO:0000775]; cohesin complex [GO:0008278]; condensed chromosome kinetochore [GO:0000777]; condensed nuclear chromosome [GO:0000794]; cytosol [GO:0005829]; kinetochore [GO:0000776]; meiotic cohesin complex [GO:0030893]; mitotic spindle pole [GO:0097431]; nuclear matrix [GO:0016363]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; ATP binding [GO:0005524]; chromatin binding [GO:0003682]; mediator complex binding [GO:0036033]; protein heterodimerization activity [GO:0046982]; RNA binding [GO:0003723]; cell division [GO:0051301]; DNA repair [GO:0006281]; meiotic cell cycle [GO:0051321]; mitotic sister chromatid cohesion [GO:0007064]; mitotic sister chromatid segregation [GO:0000070]; negative regulation of DNA endoreduplication [GO:0032876]; regulation of mitotic spindle assembly [GO:1901673]; response to DNA damage checkpoint signaling [GO:0072423]; response to radiation [GO:0009314]; sister chromatid cohesion [GO:0007062]; stem cell population maintenance [GO:0019827]

snps:
rs34530151 rs587784420 rs587784403 rs122454122 rs122454123 rs587784408 rs782176647 rs587784409 rs387906702 rs797045993 rs587784416 rs587784418 

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:12199140}. Chromosome {ECO:0000269|PubMed:12199140}. Chromosome, centromere, kinetochore {ECO:0000269|PubMed:12199140}. 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. In germ cells, cohesin complex dissociates from chromatin at prophase I, and may be replaced by a meiosis-specific cohesin complex. The phosphorylated form on Ser-957 and Ser-966 associates with chromatin during G1/S/G2 phases but not during M phase, suggesting that phosphorylation does not regulate cohesin function. Integral component of the functional centromere-kinetochore complex at the kinetochore region during mitosis.


uniprotID: O43541
geneSymbol: SMAD6
reactome: R-HSA-201451;R-HSA-8941326;
length: 496
go: ENSG00000137834;
snps: rs570279865 rs199822239 rs387907284 rs761888345 rs387907283 rs1338294058
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:16491121}.
name:
Mothers against decapentaplegic homolog 6 (MAD homolog 6) (Mothers against DPP homolog 6) (SMAD family member 6) (SMAD 6) (Smad6) (hSMAD6)

sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; Golgi apparatus [GO:0005794]; nuclear body [GO:0016604]; nucleus [GO:0005634]; protein-containing complex [GO:0032991]; transcription factor complex [GO:0005667]; chromatin binding [GO:0003682]; co-SMAD binding [GO:0070410]; 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]; R-SMAD binding [GO:0070412]; RNA polymerase II proximal promoter sequence-specific DNA binding [GO:0000978]; transcription regulatory region DNA binding [GO:0044212]; transforming growth factor beta receptor, inhibitory cytoplasmic mediator activity [GO:0030617]; type I activin receptor binding [GO:0070698]; type I transforming growth factor beta receptor binding [GO:0034713]; ubiquitin protein ligase binding [GO:0031625]; aorta development [GO:0035904]; aortic valve morphogenesis [GO:0003180]; BMP signaling pathway [GO:0030509]; cell-substrate adhesion [GO:0031589]; coronary vasculature development [GO:0060976]; fat cell differentiation [GO:0045444]; immune response [GO:0006955]; mitral valve morphogenesis [GO:0003183]; negative regulation of apoptotic process [GO:0043066]; negative regulation of BMP signaling pathway [GO:0030514]; negative regulation of cell proliferation [GO:0008285]; negative regulation of ossification [GO:0030279]; negative regulation of osteoblast differentiation [GO:0045668]; negative regulation of pathway-restricted SMAD protein phosphorylation [GO:0060394]; negative regulation of SMAD protein complex assembly [GO:0010991]; negative regulation of transforming growth factor beta receptor signaling pathway [GO:0030512]; outflow tract septum morphogenesis [GO:0003148]; positive regulation of pri-miRNA transcription by RNA polymerase II [GO:1902895]; pulmonary valve morphogenesis [GO:0003184]; response to estrogen [GO:0043627]; response to laminar fluid shear stress [GO:0034616]; transforming growth factor beta receptor signaling pathway [GO:0007179]; ureteric bud development [GO:0001657]; ventricular septum development [GO:0003281]; zygotic specification of dorsal/ventral axis [GO:0007352]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=A; IsoId=O43541-1; Sequence=Displayed; Name=B; Synonyms=Smad 6S; IsoId=O43541-2; Sequence=VSP_006179, VSP_006180; Name=D; IsoId=O43541-4; Sequence=VSP_035489, VSP_035490; 


uniprotID: Q8NDV3
geneSymbol: SMC1B
reactome: R-HSA-1221632;
name: Structural maintenance of chromosomes protein 1B (SMC protein 1B) (SMC-1-beta) (SMC-1B)
length: 1235
snps: rs136603 rs9614653 rs16993928 rs5764698
sequence:

opentargets:
chromosome, centromeric region [GO:0000775]; cytosol [GO:0005829]; lateral element [GO:0000800]; meiotic cohesin complex [GO:0030893]; nuclear meiotic cohesin complex [GO:0034991]; nucleoplasm [GO:0005654]; ATP binding [GO:0005524]; DNA binding [GO:0003677]; meiotic cell cycle [GO:0051321]; sister chromatid cohesion [GO:0007062]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q8NDV3-1; Sequence=Displayed; Name=2; IsoId=Q8NDV3-2; Sequence=VSP_035027, VSP_035028; Note=No experimental confirmation available.; Name=3; IsoId=Q8NDV3-3; Sequence=VSP_035027; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000250|UniProtKB:Q920F6}. Chromosome {ECO:0000250|UniProtKB:Q920F6}. Chromosome, centromere {ECO:0000250|UniProtKB:Q920F6}. Note=Associates with chromatin. In prophase I stage of meiosis, localizes along the AE of synaptonemal complexes. In late-pachytene-diplotene, the bulk of protein dissociates from the chromosome arms probably because of phosphorylation by PLK, except at centromeres, where cohesin complexes remain. Remains chromatin associated at the centromeres up to metaphase II. At anaphase II, dissociates from centromeres, allowing chromosomes segregation (By similarity). {ECO:0000250|UniProtKB:Q920F6}.


uniprotID: O15105
geneSymbol: SMAD7
reactome: R-HSA-201451;R-HSA-2173788;R-HSA-2173796;R-HSA-5689603;R-HSA-5689880;
pdb: 2DJY;2KXQ;2LTV;2LTW;2LTX;2LTY;2LTZ;
length: 426
go: ENSG00000101665;
name:
Mothers against decapentaplegic homolog 7 (MAD homolog 7) (Mothers against DPP homolog 7) (Mothers against decapentaplegic homolog 8) (MAD homolog 8) (Mothers against DPP homolog 8) (SMAD family member 7) (SMAD 7) (Smad7) (hSMAD7)

sequence:

opentargets:
centrosome [GO:0005813]; cytoplasm [GO:0005737]; cytosol [GO:0005829]; fibrillar center [GO:0001650]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; plasma membrane [GO:0005886]; protein-containing complex [GO:0032991]; transcription factor complex [GO:0005667]; activin binding [GO:0048185]; beta-catenin binding [GO:0008013]; collagen binding [GO:0005518]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; I-SMAD binding [GO:0070411]; metal ion binding [GO:0046872]; transcription regulatory region DNA binding [GO:0044212]; transforming growth factor beta receptor, inhibitory cytoplasmic mediator activity [GO:0030617]; type I transforming growth factor beta receptor binding [GO:0034713]; ubiquitin protein ligase binding [GO:0031625]; adherens junction assembly [GO:0034333]; artery morphogenesis [GO:0048844]; BMP signaling pathway [GO:0030509]; cellular protein-containing complex localization [GO:0034629]; cellular response to leukemia inhibitory factor [GO:1990830]; cellular response to transforming growth factor beta stimulus [GO:0071560]; negative regulation of BMP signaling pathway [GO:0030514]; negative regulation of cell migration [GO:0030336]; negative regulation of DNA-binding transcription factor activity [GO:0043433]; negative regulation of epithelial to mesenchymal transition [GO:0010719]; negative regulation of pathway-restricted SMAD protein phosphorylation [GO:0060394]; negative regulation of peptidyl-serine phosphorylation [GO:0033137]; negative regulation of peptidyl-threonine phosphorylation [GO:0010801]; negative regulation of protein ubiquitination [GO:0031397]; negative regulation of T cell cytokine production [GO:0002725]; negative regulation of T-helper 17 cell differentiation [GO:2000320]; negative regulation of T-helper 17 type immune response [GO:2000317]; negative regulation of transcription by competitive promoter binding [GO:0010944]; negative regulation of transcription by RNA polymerase II [GO:0000122]; negative regulation of transforming growth factor beta receptor signaling pathway [GO:0030512]; negative regulation of ubiquitin-protein transferase activity [GO:0051444]; pathway-restricted SMAD protein phosphorylation [GO:0060389]; positive regulation of cell-cell adhesion [GO:0022409]; positive regulation of proteasomal ubiquitin-dependent protein catabolic process [GO:0032436]; positive regulation of protein ubiquitination [GO:0031398]; positive regulation of transcription by RNA polymerase II [GO:0045944]; protein deubiquitination [GO:0016579]; protein stabilization [GO:0050821]; regulation of activin receptor signaling pathway [GO:0032925]; regulation of cardiac muscle contraction [GO:0055117]; regulation of epithelial to mesenchymal transition [GO:0010717]; regulation of transforming growth factor beta receptor signaling pathway [GO:0017015]; regulation of ventricular cardiac muscle cell membrane depolarization [GO:0060373]; response to laminar fluid shear stress [GO:0034616]; transforming growth factor beta receptor signaling pathway [GO:0007179]; ureteric bud development [GO:0001657]; ventricular cardiac muscle tissue morphogenesis [GO:0055010]; ventricular septum morphogenesis [GO:0060412]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=O15105-1; Sequence=Displayed; Name=2; IsoId=O15105-2; Sequence=VSP_045197; Note=No experimental confirmation available.; Name=3; IsoId=O15105-3; Sequence=VSP_047540; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:14657019, ECO:0000269|PubMed:16601693, ECO:0000269|PubMed:17327236}. Cytoplasm {ECO:0000269|PubMed:14657019, ECO:0000269|PubMed:16601693, ECO:0000269|PubMed:17327236}. Note=Interaction with NEDD4L or RNF111 induces translocation from the nucleus to the cytoplasm (PubMed:16601693). TGF-beta stimulates its translocation from the nucleus to the cytoplasm. PDPK1 inhibits its translocation from the nucleus to the cytoplasm in response to TGF-beta (PubMed:17327236). {ECO:0000269|PubMed:16601693, ECO:0000269|PubMed:17327236}.


uniprotID: O15198
geneSymbol: SMAD9
reactome: R-HSA-201451;
length: 467
go: ENSG00000120693;
snps: rs397514715
name:
Mothers against decapentaplegic homolog 9 (MAD homolog 9) (Mothers against DPP homolog 9) (Madh6) (SMAD family member 9) (SMAD 9) (Smad9)

sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; intracellular [GO:0005622]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; SMAD protein complex [GO:0071141]; transcription factor complex [GO:0005667]; DNA binding [GO:0003677]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; metal ion binding [GO:0046872]; transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity [GO:0030618]; BMP signaling pathway [GO:0030509]; cellular response to BMP stimulus [GO:0071773]; positive regulation of transcription from RNA polymerase II promoter involved in cellular response to chemical stimulus [GO:1901522]; SMAD protein signal transduction [GO:0060395]; transforming growth factor beta receptor signaling pathway [GO:0007179]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=A; IsoId=O15198-1; Sequence=Displayed; Name=B; IsoId=O15198-2; Sequence=VSP_006182; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250}. Nucleus {ECO:0000250}. Note=In the cytoplasm in the absence of ligand. Migration to the nucleus when complexed with SMAD4 (By similarity). {ECO:0000250}.


uniprotID: Q147U7
geneSymbol: SMCO1
length: 214
opentargets: integral component of membrane [GO:0016021]
snps: rs9869292 rs11926701
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Single-pass membrane protein {ECO:0000305}.
name:
Single-pass membrane and coiled-coil domain-containing protein 1 (Single-pass membrane protein with coiled-coil domains 1)

sequence:


uniprotID: Q8TEV8
geneSymbol: SMCR5
name: Smith-Magenis syndrome chromosomal region candidate gene 5 protein
length: 140
sequence:
MRRCLRVKTRRGQLGLASSCFEQHSCFSPRVNRILSAVQNTLCTGPSSQAPPQPPQASPPAAADHSRTPSLLASSHSASGGESLFQLYIASLAWPQNCCVLESCRRIPLGGLSSMENRRPLLRKGRLLRGQIHHSQTNEL


uniprotID: Q16637
geneSymbol: SMN1; SMN2
reactome: R-HSA-191859;
pdb: 1G5V;1MHN;2LEH;4A4E;4A4G;4GLI;4QQ6;5XJL;5XJQ;5XJR;5XJS;5XJT;5XJU;
name: Survival motor neuron protein (Component of gems 1) (Gemin-1)
length: 294
go: ENSG00000172062;ENSG00000205571;
sequence:

opentargets:
Cajal body [GO:0015030]; cytoplasm [GO:0005737]; cytoplasmic ribonucleoprotein granule [GO:0036464]; cytosol [GO:0005829]; Gemini of coiled bodies [GO:0097504]; neuron projection [GO:0043005]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; perikaryon [GO:0043204]; SMN complex [GO:0032797]; SMN-Sm protein complex [GO:0034719]; Z disc [GO:0030018]; identical protein binding [GO:0042802]; RNA binding [GO:0003723]; DNA-templated transcription, termination [GO:0006353]; import into nucleus [GO:0051170]; nervous system development [GO:0007399]; spliceosomal complex assembly [GO:0000245]; spliceosomal snRNP assembly [GO:0000387]

snps:
rs75030631 rs104893930 rs104893931 rs104893927 rs104893935 rs104893933 rs104893934 rs75586164 rs104893932 rs75660264 rs104893922 rs76871093 rs77301881 rs77969175 rs76163360 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Comment=Experimental confirmation may be lacking for some isoforms.; Name=SMN; Synonyms=Full-SMN; IsoId=Q16637-1; Sequence=Displayed; Note=Primarily derived from SMN1 gene.; Name=SMN-delta5; Synonyms=Iso5-SMN; IsoId=Q16637-2; Sequence=VSP_006183; Name=SMN-delta7; Synonyms=Iso7-SMN; IsoId=Q16637-3; Sequence=VSP_006184, VSP_006185; Note=Thought to be a non-functional protein that lacks the capacity to oligomerize and thus cannot interact with Sm proteins. Primarily derived from SMN2 gene.; Name=SMN-delta57; Synonyms=Iso57-SMN; IsoId=Q16637-4; Sequence=VSP_006183, VSP_006184, VSP_006185; 

location:
SUBCELLULAR LOCATION: Nucleus, gem {ECO:0000269|PubMed:11283611, ECO:0000269|PubMed:8670859, ECO:0000305|PubMed:12067652}. Nucleus, Cajal body {ECO:0000269|PubMed:11283611, ECO:0000269|PubMed:21072240, ECO:0000305|PubMed:12067652}. Cytoplasm {ECO:0000269|PubMed:11283611, ECO:0000269|PubMed:8670859, ECO:0000305|PubMed:12067652}. Cytoplasmic granule {ECO:0000269|PubMed:14715275}. Perikaryon {ECO:0000269|PubMed:18093976}. Cell projection {ECO:0000269|PubMed:18093976}. Cytoplasm, myofibril, sarcomere, Z line {ECO:0000250|UniProtKB:P97801}. Note=Colocalizes with actin and at the Z-line of skeletal muscle (By similarity). Under stress conditions colocalizes with RPP20/POP7 in punctuated cytoplasmic granules (PubMed:14715275). Colocalized and redistributed with ZPR1 from the cytoplasm to nuclear gems (Gemini of coiled bodies) and Cajal bodies (PubMed:11283611). Colocalizes with FMR1 in cytoplasmic granules in the soma and neurite cell processes (PubMed:18093976). {ECO:0000250|UniProtKB:P97801, ECO:0000269|PubMed:11283611, ECO:0000269|PubMed:14715275, ECO:0000269|PubMed:18093976}.


uniprotID: Q6STE5
geneSymbol: SMARCD3
length: 483
go: ENSG00000082014;
snps: rs1050101
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:14701856}.
reactome:
R-HSA-1368082;R-HSA-1368108;R-HSA-1989781;R-HSA-2151201;R-HSA-2426168;R-HSA-3214858;R-HSA-381340;R-HSA-400206;R-HSA-400253;R-HSA-8939243;

name:
SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily D member 3 (60 kDa BRG-1/Brm-associated factor subunit C) (BRG1-associated factor 60C) (BAF60C)

sequence:

opentargets:
cytoplasm [GO:0005737]; nBAF complex [GO:0071565]; npBAF complex [GO:0071564]; nuclear chromatin [GO:0000790]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; SWI/SNF complex [GO:0016514]; chromatin binding [GO:0003682]; nuclear hormone receptor binding [GO:0035257]; nuclear receptor binding [GO:0016922]; nuclear receptor transcription coactivator activity [GO:0030374]; signaling receptor binding [GO:0005102]; transcription coactivator activity [GO:0003713]; transcription factor binding [GO:0008134]; cardiac right ventricle formation [GO:0003219]; chromatin remodeling [GO:0006338]; muscle cell differentiation [GO:0042692]; neural retina development [GO:0003407]; nucleosome disassembly [GO:0006337]; positive regulation of G2/M transition of mitotic cell cycle [GO:0010971]; positive regulation of neuroblast proliferation [GO:0002052]; positive regulation of smooth muscle cell differentiation [GO:0051152]; positive regulation of transcription, DNA-templated [GO:0045893]; regulation of lipid metabolic process [GO:0019216]; regulation of protein binding [GO:0043393]; regulation of transcription by RNA polymerase II [GO:0006357]; secondary heart field specification [GO:0003139]; transcription, DNA-templated [GO:0006351]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; Synonyms=BAF60C2; IsoId=Q6STE5-1; Sequence=Displayed; Name=2; Synonyms=BAF60C1; IsoId=Q6STE5-2; Sequence=VSP_012498; 


uniprotID: Q86VZ5
geneSymbol: SGMS1
reactome: R-HSA-1660661;
length: 413
go: ENSG00000198964;
name:
Phosphatidylcholine:ceramide cholinephosphotransferase 1 (EC 2.7.8.27) (Medulla oblongata-derived protein) (Protein Mob) (Sphingomyelin synthase 1) (Transmembrane protein 23)

sequence:

opentargets:
endoplasmic reticulum [GO:0005783]; Golgi membrane [GO:0000139]; Golgi trans cisterna [GO:0000138]; integral component of endoplasmic reticulum membrane [GO:0030176]; integral component of Golgi membrane [GO:0030173]; integral component of plasma membrane [GO:0005887]; membrane [GO:0016020]; nucleus [GO:0005634]; plasma membrane [GO:0005886]; ceramide cholinephosphotransferase activity [GO:0047493]; ceramide phosphoethanolamine synthase activity [GO:0002950]; kinase activity [GO:0016301]; sphingomyelin synthase activity [GO:0033188]; apoptotic process [GO:0006915]; cellular response to lipopolysaccharide [GO:0071222]; cellular response to tumor necrosis factor [GO:0071356]; ceramide biosynthetic process [GO:0046513]; inflammatory response [GO:0006954]; positive regulation of gene expression [GO:0010628]; regulation of intrinsic apoptotic signaling pathway [GO:2001242]; sphingolipid biosynthetic process [GO:0030148]; sphingomyelin biosynthetic process [GO:0006686]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q86VZ5-1; Sequence=Displayed; Name=2; IsoId=Q86VZ5-2; Sequence=VSP_027223, VSP_027224; 

location:
SUBCELLULAR LOCATION: Golgi apparatus membrane {ECO:0000269|PubMed:14685263, ECO:0000269|PubMed:17449912, ECO:0000269|PubMed:18694848}; Multi-pass membrane protein {ECO:0000269|PubMed:14685263, ECO:0000269|PubMed:17449912, ECO:0000269|PubMed:18694848}.


uniprotID: Q7L8C5
geneSymbol: SYT13
pdb: 1WFM;
name: Synaptotagmin-13 (Synaptotagmin XIII) (SytXIII)
length: 426
go: ENSG00000019505;
location: SUBCELLULAR LOCATION: Membrane {ECO:0000250}; Single-pass membrane protein {ECO:0000250}.
sequence:

opentargets:
exocytic vesicle [GO:0070382]; integral component of plasma membrane [GO:0005887]; intracellular membrane-bounded organelle [GO:0043231]; plasma membrane [GO:0005886]; presynapse [GO:0098793]; transport vesicle [GO:0030133]; calcium ion binding [GO:0005509]; calcium-dependent phospholipid binding [GO:0005544]; clathrin binding [GO:0030276]; phosphatidylserine binding [GO:0001786]; SNARE binding [GO:0000149]; syntaxin binding [GO:0019905]; calcium ion regulated exocytosis [GO:0017156]; cellular response to calcium ion [GO:0071277]; regulation of dopamine secretion [GO:0014059]; synaptic vesicle exocytosis [GO:0016079]; vesicle-mediated transport [GO:0016192]


uniprotID: P21579
geneSymbol: SYT1
pdb: 2K45;2K4A;2K8M;2KI6;2LHA;2N1T;2R83;3F00;3F01;3F04;3F05;4ISQ;4V11;
name: Synaptotagmin-1 (Synaptotagmin I) (SytI) (p65)
length: 422
go: ENSG00000067715;
snps: rs1135402761
reactome:
R-HSA-181429;R-HSA-181430;R-HSA-210500;R-HSA-212676;R-HSA-264642;R-HSA-5250958;R-HSA-5250989;R-HSA-6794361;R-HSA-8856825;R-HSA-8856828;R-HSA-888590;

sequence:

opentargets:
axon [GO:0030424]; cell junction [GO:0030054]; chromaffin granule membrane [GO:0042584]; clathrin-coated vesicle membrane [GO:0030665]; clathrin-sculpted acetylcholine transport vesicle membrane [GO:0060201]; clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane [GO:0061202]; clathrin-sculpted glutamate transport vesicle membrane [GO:0060203]; clathrin-sculpted monoamine transport vesicle membrane [GO:0070083]; cytoplasm [GO:0005737]; dense core granule [GO:0031045]; excitatory synapse [GO:0060076]; exocytic vesicle [GO:0070382]; glutamatergic synapse [GO:0098978]; Golgi apparatus [GO:0005794]; hippocampal mossy fiber to CA3 synapse [GO:0098686]; integral component of synaptic vesicle membrane [GO:0030285]; neuron projection [GO:0043005]; neuron projection terminus [GO:0044306]; plasma membrane [GO:0005886]; presynaptic membrane [GO:0042734]; SNARE complex [GO:0031201]; synaptic vesicle [GO:0008021]; synaptic vesicle membrane [GO:0030672]; 1-phosphatidylinositol binding [GO:0005545]; calcium ion binding [GO:0005509]; calcium-dependent phospholipid binding [GO:0005544]; calcium-dependent protein binding [GO:0048306]; calmodulin binding [GO:0005516]; clathrin binding [GO:0030276]; identical protein binding [GO:0042802]; low-density lipoprotein particle receptor binding [GO:0050750]; phosphatidylinositol-4,5-bisphosphate binding [GO:0005546]; phosphatidylserine binding [GO:0001786]; protein C-terminus binding [GO:0008022]; protein heterodimerization activity [GO:0046982]; SNARE binding [GO:0000149]; syntaxin binding [GO:0019905]; syntaxin-1 binding [GO:0017075]; syntaxin-3 binding [GO:0030348]; brain development [GO:0007420]; calcium ion regulated exocytosis [GO:0017156]; calcium ion-regulated exocytosis of neurotransmitter [GO:0048791]; calcium-dependent activation of synaptic vesicle fusion [GO:0099502]; cellular response to calcium ion [GO:0071277]; chemical synaptic transmission [GO:0007268]; detection of calcium ion [GO:0005513]; fast, calcium ion-dependent exocytosis of neurotransmitter [GO:0098746]; glutamate secretion [GO:0014047]; membrane organization [GO:0061024]; neurotransmitter secretion [GO:0007269]; positive regulation of dendrite extension [GO:1903861]; positive regulation of synaptic transmission [GO:0050806]; protein heterooligomerization [GO:0051291]; protein homooligomerization [GO:0051260]; regulation of dopamine secretion [GO:0014059]; regulation of exocytosis [GO:0017157]; regulation of regulated secretory pathway [GO:1903305]; regulation of synaptic transmission, glutamatergic [GO:0051966]; synaptic vesicle endocytosis [GO:0048488]; synaptic vesicle exocytosis [GO:0016079]; vesicle docking [GO:0048278]; vesicle-mediated transport [GO:0016192]

location:
SUBCELLULAR LOCATION: Cytoplasmic vesicle, secretory vesicle membrane {ECO:0000250|UniProtKB:P21707}; Single-pass membrane protein {ECO:0000255}. Cytoplasmic vesicle, secretory vesicle, synaptic vesicle membrane {ECO:0000250|UniProtKB:P21707}; Single-pass membrane protein {ECO:0000250|UniProtKB:P21707}. Cytoplasmic vesicle, secretory vesicle, chromaffin granule membrane {ECO:0000250|UniProtKB:P21707}; Single-pass membrane protein {ECO:0000250|UniProtKB:P21707}. Cytoplasm {ECO:0000250|UniProtKB:P21707}. Note=Synaptic vesicles and chromaffin granules. {ECO:0000250|UniProtKB:P21707}.


uniprotID: Q2NKQ1
geneSymbol: SGSM1
name: Small G protein signaling modulator 1 (RUN and TBC1 domain-containing protein 2)
length: 1148
go: ENSG00000167037;
snps: rs6004350 rs2073201
sequence:

opentargets:
cytoplasm [GO:0005737]; cytoplasmic vesicle membrane [GO:0030659]; cytosol [GO:0005829]; Golgi apparatus [GO:0005794]; GTPase activator activity [GO:0005096]; Rab GTPase binding [GO:0017137]; activation of GTPase activity [GO:0090630]; intracellular protein transport [GO:0006886]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q2NKQ1-1; Sequence=Displayed; Note=No experimental confirmation available.; Name=2; IsoId=Q2NKQ1-3; Sequence=VSP_024665, VSP_024666, VSP_024667, VSP_024668; Name=3; IsoId=Q2NKQ1-4; Sequence=VSP_024667; 

location:
SUBCELLULAR LOCATION: Golgi apparatus, trans-Golgi network {ECO:0000250|UniProtKB:Q8BPQ7}. Cytoplasmic vesicle membrane {ECO:0000269|PubMed:22637480}; Peripheral membrane protein {ECO:0000269|PubMed:22637480}. Cytoplasm {ECO:0000269|PubMed:22637480}. Note=Recruited to cytoplasmic vesicle membranes via its interaction with Rab family members, such as RAB9A. {ECO:0000269|PubMed:22637480}.


uniprotID: O75368
geneSymbol: SH3BGRL
pdb: 1U6T;1WRY;
name: SH3 domain-binding glutamic acid-rich-like protein
length: 114
go: ENSG00000131171;
sequence:
MVIRVYIASSSGSTAIKKKQQDVLGFLEANKIGFEEKDIAANEENRKWMRENVPENSRPATGYPLPPQIFNESQYRGDYDAFFEARENNAVYAFLGLTAPPGSKEAEVQAKQQA

opentargets:
cytoplasm [GO:0005737]; extracellular exosome [GO:0070062]; extracellular space [GO:0005615]; nucleus [GO:0005634]; SH3 domain binding [GO:0017124]; SH3/SH2 adaptor activity [GO:0005070]


uniprotID: Q9Y2Z0
geneSymbol: SUGT1
reactome: R-HSA-844456;
pdb: 1RL1;
name: Protein SGT1 homolog (Protein 40-6-3) (Sgt1) (Suppressor of G2 allele of SKP1 homolog)
length: 365
go: ENSG00000165416;
sequence:

opentargets:
cytosol [GO:0005829]; kinetochore [GO:0000776]; nucleus [GO:0005634]; protein-containing complex [GO:0032991]; ubiquitin ligase complex [GO:0000151]; mitotic cell cycle [GO:0000278]; positive regulation by host of symbiont catalytic activity [GO:0043947]; protein stabilization [GO:0050821]; regulation of protein stability [GO:0031647]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; Synonyms=SGT1B {ECO:0000303|PubMed:15018354}, SUGT1B {ECO:0000303|PubMed:15018354}, SGT1.2 {ECO:0000303|PubMed:15346769}; IsoId=Q9Y2Z0-1; Sequence=Displayed; Name=2; Synonyms=SGT1A, SUGT1A {ECO:0000303|PubMed:15018354}; IsoId=Q9Y2Z0-2; Sequence=VSP_013420; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:21864708}. Nucleus {ECO:0000269|PubMed:21864708}. Note=Translocates to the nucleus upon heat shock, requiring S100A6.


uniprotID: O15266
geneSymbol: SHOX
length: 292
go: ENSG00000185960;
snps: rs137852554 rs137852555 rs137852557 rs137852556
name:
Short stature homeobox protein (Pseudoautosomal homeobox-containing osteogenic protein) (Short stature homeobox-containing protein)

sequence:

opentargets:
intracellular membrane-bounded organelle [GO:0043231]; nucleoplasm [GO:0005654]; 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]; sequence-specific DNA binding [GO:0043565]; positive regulation of transcription by RNA polymerase II [GO:0045944]; skeletal system development [GO:0001501]; transcription by RNA polymerase II [GO:0006366]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=SHOXA; IsoId=O15266-1; Sequence=Displayed; Name=SHOXB; IsoId=O15266-2; Sequence=VSP_002287; 


uniprotID: P98077
geneSymbol: SHC2
reactome: R-HSA-167044;R-HSA-4420097;R-HSA-5673001;
length: 582
go: ENSG00000129946;
name:
SHC-transforming protein 2 (Protein Sck) (SHC-transforming protein B) (Src homology 2 domain-containing-transforming protein C2) (SH2 domain protein C2)

sequence:

opentargets:
cytosol [GO:0005829]; plasma membrane [GO:0005886]; Ras guanyl-nucleotide exchange factor activity [GO:0005088]; receptor tyrosine kinase binding [GO:0030971]; activation of MAPK activity [GO:0000187]; MAPK cascade [GO:0000165]; Ras protein signal transduction [GO:0007265]; vascular endothelial growth factor receptor signaling pathway [GO:0048010]


uniprotID: O15357
geneSymbol: INPPL1
reactome: R-HSA-1660499;R-HSA-1855204;R-HSA-912526;
pdb: 2K4P;2KSO;2MK2;3NR8;4A9C;5OKM;5OKN;5OKO;5OKP;
length: 1258
go: ENSG00000165458;
snps: rs397514511 rs61749195 rs397514510 rs116848359 rs397514512 rs70940821 rs11548491 rs1049472
name:
Phosphatidylinositol 3,4,5-trisphosphate 5-phosphatase 2 (EC 3.1.3.86) (Inositol polyphosphate phosphatase-like protein 1) (INPPL-1) (Protein 51C) (SH2 domain-containing inositol 5'-phosphatase 2) (SH2 domain-containing inositol phosphatase 2) (SHIP-2)

sequence:

opentargets:
cytoskeleton [GO:0005856]; cytosol [GO:0005829]; filopodium [GO:0030175]; Golgi apparatus [GO:0005794]; lamellipodium [GO:0030027]; plasma membrane [GO:0005886]; actin binding [GO:0003779]; inositol-1,3,4,5-tetrakisphosphate 5-phosphatase activity [GO:0052659]; phosphatidylinositol-3,4,5-trisphosphate 5-phosphatase activity [GO:0034485]; SH2 domain binding [GO:0042169]; SH3 domain binding [GO:0017124]; actin filament organization [GO:0007015]; cell adhesion [GO:0007155]; cytokine-mediated signaling pathway [GO:0019221]; endochondral ossification [GO:0001958]; endocytosis [GO:0006897]; glucose metabolic process [GO:0006006]; immune system process [GO:0002376]; inositol phosphate metabolic process [GO:0043647]; negative regulation of cell proliferation [GO:0008285]; negative regulation of gene expression [GO:0010629]; phosphatidylinositol biosynthetic process [GO:0006661]; phosphatidylinositol dephosphorylation [GO:0046856]; post-embryonic development [GO:0009791]; response to insulin [GO:0032868]; ruffle assembly [GO:0097178]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=O15357-1; Sequence=Displayed; Name=2; IsoId=O15357-2; Sequence=VSP_027985; 

location:
SUBCELLULAR LOCATION: Cytoplasm, cytosol. Cytoplasm, cytoskeleton. Membrane; Peripheral membrane protein. Cell projection, filopodium. Cell projection, lamellipodium. Note=Translocates to membrane ruffles when activated, translocation is probably due to different mechanisms depending on the stimulus and cell type. Partly translocated via its SH2 domain which mediates interaction with tyrosine phosphorylated receptors such as the FC-gamma-RIIB receptor (FCGR2B). Tyrosine phosphorylation may also participate in membrane localization. Insulin specifically stimulates its redistribution from the cytosol to the plasma membrane. Recruited to the membrane following M-CSF stimulation. In activated spreading platelets, localizes with actin at filopodia, lamellipodia and the central actin ring.


