# annotation

uniprotID: Q6XD76
geneSymbol: ASCL4
length: 172
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000255|PROSITE-ProRule:PRU00981}.
name:
Achaete-scute homolog 4 (ASH-4) (hASH4) (Achaete-scute-like protein 4) (Class A basic helix-loop-helix protein 44) (bHLHa44)

sequence:
METRKPAERLALPYSLRTAPLGVPGTLPGLPRRDPLRVALRLDAACWEWARSGCARGWQYLPVPLDSAFEPAFLRKRNERERQRVRCVNEGYARLRDHLPRELADKRLSKVETLRAAIDYIKHLQELLERQAWGLEGAAGAVPQRRAECNSDGESKASSAPSPSSEPEEGGS

opentargets:
RNA polymerase II transcription factor complex [GO:0090575]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; protein dimerization activity [GO:0046983]; RNA polymerase II regulatory region sequence-specific DNA binding [GO:0000977]; transcription factor binding [GO:0008134]; positive regulation of transcription by RNA polymerase II [GO:0045944]; regulation of transcription by RNA polymerase II [GO:0006357]; skin development [GO:0043588]


uniprotID: Q96FT7
geneSymbol: ASIC4
reactome: R-HSA-2672351;
length: 647
go: ENSG00000072182;
snps: rs6436153 rs11689281 rs11695248
location: SUBCELLULAR LOCATION: Membrane {ECO:0000250}; Multi-pass membrane protein {ECO:0000250}.
name:
Acid-sensing ion channel 4 (ASIC4) (Amiloride-sensitive cation channel 4) (Amiloride-sensitive cation channel 4, pituitary)

sequence:

opentargets:
integral component of plasma membrane [GO:0005887]; ion channel activity [GO:0005216]; sodium channel activity [GO:0005272]; sodium ion transmembrane transporter activity [GO:0015081]; behavioral fear response [GO:0001662]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q96FT7-1; Sequence=Displayed; Note=No experimental confirmation available.; Name=2; IsoId=Q96FT7-2; Sequence=VSP_015609, VSP_015610; Note=No experimental confirmation available.; Name=3; IsoId=Q96FT7-4; Sequence=VSP_015611; 


uniprotID: Q9NVP2
geneSymbol: ASF1B
pdb: 5BNX;5BO0;
length: 202
go: ENSG00000105011;
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:12842904}.
name:
Histone chaperone ASF1B (Anti-silencing function protein 1 homolog B) (hAsf1) (hAsf1b) (CCG1-interacting factor A-II) (CIA-II) (hCIA-II)

sequence:

opentargets:
nuclear chromatin [GO:0000790]; nucleoplasm [GO:0005654]; protein-containing complex [GO:0032991]; histone binding [GO:0042393]; blastocyst hatching [GO:0001835]; cell differentiation [GO:0030154]; DNA replication-dependent nucleosome assembly [GO:0006335]; DNA replication-independent nucleosome assembly [GO:0006336]; spermatogenesis [GO:0007283]


uniprotID: Q92485
geneSymbol: SMPDL3B
name: Acid sphingomyelinase-like phosphodiesterase 3b (ASM-like phosphodiesterase 3b) (EC 3.1.4.-)
length: 455
go: ENSG00000130768;
snps: rs34560878
sequence:

opentargets:
anchored component of membrane [GO:0031225]; extracellular exosome [GO:0070062]; extracellular space [GO:0005615]; plasma membrane [GO:0005886]; hydrolase activity, acting on glycosyl bonds [GO:0016798]; metal ion binding [GO:0046872]; phosphoric diester hydrolase activity [GO:0008081]; sphingomyelin phosphodiesterase activity [GO:0004767]; inflammatory response [GO:0006954]; innate immune response [GO:0045087]; membrane lipid catabolic process [GO:0046466]; negative regulation of inflammatory response [GO:0050728]; negative regulation of toll-like receptor signaling pathway [GO:0034122]; sphingomyelin catabolic process [GO:0006685]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q92485-1; Sequence=Displayed; Name=2; IsoId=Q92485-2; Sequence=VSP_013478, VSP_013479; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Secreted {ECO:0000250}. Cell membrane {ECO:0000250|UniProtKB:P58242}; Lipid-anchor, GPI-anchor {ECO:0000250|UniProtKB:P58242}.


uniprotID: O95671
geneSymbol: ASMTL
pdb: 2P5X;
name: N-acetylserotonin O-methyltransferase-like protein (ASMTL) (EC 2.1.1.-)
length: 621
go: ENSG00000169093;
snps: rs4503285 rs1127297
sequence:

opentargets:
cytosol [GO:0005829]; nucleoside-triphosphate diphosphatase activity [GO:0047429]; O-methyltransferase activity [GO:0008171]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=O95671-1; Sequence=Displayed; Name=2; IsoId=O95671-2; Sequence=VSP_007213; Note=No experimental confirmation available.; Name=3; IsoId=O95671-3; Sequence=VSP_047412; Note=No experimental confirmation available.; 


uniprotID: Q9BZE9
geneSymbol: ASPSCR1
reactome: R-HSA-1445148;
pdb: 5IFS;5IFW;
length: 553
go: ENSG00000169696;
snps: rs8074498 rs34085048 rs13087
name:
Tether containing UBX domain for GLUT4 (Alveolar soft part sarcoma chromosomal region candidate gene 1 protein) (Alveolar soft part sarcoma locus) (Renal papillary cell carcinoma protein 17) (UBX domain-containing protein 9)

sequence:

opentargets:
cytoplasmic side of plasma membrane [GO:0009898]; cytosol [GO:0005829]; endomembrane system [GO:0012505]; endoplasmic reticulum-Golgi intermediate compartment membrane [GO:0033116]; extrinsic component of membrane [GO:0019898]; intracellular membrane-bounded organelle [GO:0043231]; nucleoplasm [GO:0005654]; perinuclear region of cytoplasm [GO:0048471]; plasma membrane [GO:0005886]; vesicle membrane [GO:0012506]; glucose homeostasis [GO:0042593]; intracellular protein transport [GO:0006886]; positive regulation of protein modification process [GO:0031401]; regulation of glucose import [GO:0046324]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=Q9BZE9-1; Sequence=Displayed; Name=2; IsoId=Q9BZE9-2; Sequence=VSP_020578; Name=3; IsoId=Q9BZE9-3; Sequence=VSP_020574, VSP_020577; Name=4; IsoId=Q9BZE9-4; Sequence=VSP_020574, VSP_020575, VSP_020576; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Endomembrane system {ECO:0000250}; Peripheral membrane protein {ECO:0000250}. Endoplasmic reticulum-Golgi intermediate compartment membrane {ECO:0000269|PubMed:22207755}; Peripheral membrane protein. Cytoplasm {ECO:0000269|PubMed:23349634}. Nucleus {ECO:0000269|PubMed:23349634}.


uniprotID: Q9NWL6
geneSymbol: ASNSD1
name: Asparagine synthetase domain-containing protein 1 (HCV NS3-transactivated protein 1)
length: 643
go: ENSG00000138381;
snps: rs1437880 rs35137531
sequence:

opentargets:
asparagine synthase (glutamine-hydrolyzing) activity [GO:0004066]; asparagine biosynthetic process [GO:0006529]; glutamine metabolic process [GO:0006541]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative initiation; Named isoforms=2;  Name=1; IsoId=Q9NWL6-1; Sequence=Displayed; Name=2; Synonyms=uORF {ECO:0000303|PubMed:23160002}; IsoId=L0R819-1; Sequence=External; Note=Product of the upstream open reading frame of this bicistronic gene. {ECO:0000303|PubMed:23160002, ECO:0000303|PubMed:23950983, ECO:0000303|PubMed:25857697}; 


uniprotID: O14525
geneSymbol: ASTN1
name: Astrotactin-1
length: 1302
go: ENSG00000152092;
snps: rs2228956 rs2281180 rs12118933 rs12118933
sequence:

opentargets:
clathrin-coated vesicle [GO:0030136]; endosome [GO:0005768]; external side of plasma membrane [GO:0009897]; integral component of membrane [GO:0016021]; perikaryon [GO:0043204]; locomotory behavior [GO:0007626]; neuron cell-cell adhesion [GO:0007158]; neuron migration [GO:0001764]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=2; IsoId=O14525-1; Sequence=Displayed; Note=No experimental confirmation available.; Name=1; IsoId=O14525-2; Sequence=VSP_001371; Name=3; IsoId=O14525-3; Sequence=VSP_001371, VSP_045069; 

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000250|UniProtKB:Q61137}; Multi-pass membrane protein {ECO:0000250|UniProtKB:Q61137}. Perikaryon {ECO:0000250|UniProtKB:Q61137}. Endosome {ECO:0000250|UniProtKB:Q61137}. Cytoplasmic vesicle, clathrin-coated vesicle {ECO:0000250|UniProtKB:Q61137}. Note=Detected close to the anterior pole and at the base of the leading process in migrating neurons. Is internalized from the membrane via clathrin-coated vesicles and endosomes, and recycled to the anterior pole of the migrating cell. {ECO:0000250|UniProtKB:Q61137}.


uniprotID: P14415
geneSymbol: ATP1B2
reactome: R-HSA-210991;R-HSA-5578775;R-HSA-936837;
length: 290
go: ENSG00000129244;
drug: DB09479;
snps: rs34745087 rs2227866
location: SUBCELLULAR LOCATION: Cell membrane; Single-pass type II membrane protein.
name:
Sodium/potassium-transporting ATPase subunit beta-2 (Adhesion molecule in glia) (AMOG) (Sodium/potassium-dependent ATPase subunit beta-2)

sequence:

opentargets:
apical plasma membrane [GO:0016324]; cytoplasm [GO:0005737]; plasma membrane [GO:0005886]; sodium:potassium-exchanging ATPase complex [GO:0005890]; ATPase activator activity [GO:0001671]; ATPase binding [GO:0051117]; sodium:potassium-exchanging ATPase activity [GO:0005391]; cell adhesion [GO:0007155]; cell communication by electrical coupling involved in cardiac conduction [GO:0086064]; cellular potassium ion homeostasis [GO:0030007]; cellular sodium ion homeostasis [GO:0006883]; leukocyte migration [GO:0050900]; membrane repolarization [GO:0086009]; positive regulation of ATPase activity [GO:0032781]; positive regulation of potassium ion import [GO:1903288]; positive regulation of potassium ion transmembrane transporter activity [GO:1901018]; positive regulation of sodium ion export across plasma membrane [GO:1903278]; potassium ion import [GO:0010107]; protein stabilization [GO:0050821]; sodium ion export across plasma membrane [GO:0036376]


uniprotID: P54709
geneSymbol: ATP1B3
reactome: R-HSA-210991;R-HSA-5578775;R-HSA-936837;
length: 279
go: ENSG00000069849;
drug: DB09479;
name:
Sodium/potassium-transporting ATPase subunit beta-3 (Sodium/potassium-dependent ATPase subunit beta-3) (ATPB-3) (CD antigen CD298)

sequence:

opentargets:
caveola [GO:0005901]; extracellular exosome [GO:0070062]; melanosome [GO:0042470]; plasma membrane [GO:0005886]; sodium:potassium-exchanging ATPase complex [GO:0005890]; ATPase activator activity [GO:0001671]; ATPase binding [GO:0051117]; sodium:potassium-exchanging ATPase activity [GO:0005391]; cellular potassium ion homeostasis [GO:0030007]; cellular sodium ion homeostasis [GO:0006883]; leukocyte migration [GO:0050900]; membrane repolarization [GO:0086009]; positive regulation of ATPase activity [GO:0032781]; positive regulation of potassium ion import [GO:1903288]; positive regulation of potassium ion transmembrane transporter activity [GO:1901018]; positive regulation of sodium ion export across plasma membrane [GO:1903278]; potassium ion import [GO:0010107]; protein localization to plasma membrane [GO:0072659]; protein stabilization [GO:0050821]; sodium ion export across plasma membrane [GO:0036376]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P54709-1; Sequence=Displayed; Name=2; IsoId=P54709-2; Sequence=VSP_056686, VSP_056687; Note=No experimental confirmation available.; 

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


uniprotID: Q9BXN1
geneSymbol: ASPN
reactome: R-HSA-3000178;
name: Asporin (Periodontal ligament-associated protein 1) (PLAP-1)
length: 380
go: ENSG00000106819;
sequence:

opentargets:
collagen-containing extracellular matrix [GO:0062023]; extracellular matrix [GO:0031012]; calcium ion binding [GO:0005509]; collagen binding [GO:0005518]; extracellular matrix structural constituent conferring compression resistance [GO:0030021]; bone mineralization [GO:0030282]; negative regulation of tooth mineralization [GO:0070171]; negative regulation of transforming growth factor beta receptor signaling pathway [GO:0030512]

location:
SUBCELLULAR LOCATION: Secreted, extracellular space, extracellular matrix {ECO:0000269|PubMed:17827158}.


uniprotID: Q00537
geneSymbol: CDK17
length: 523
go: ENSG00000059758;
snps: rs764448325
name:
Cyclin-dependent kinase 17 (EC 2.7.11.22) (Cell division protein kinase 17) (PCTAIRE-motif protein kinase 2) (Serine/threonine-protein kinase PCTAIRE-2)

sequence:

opentargets:
cytoplasm [GO:0005737]; nucleus [GO:0005634]; ATP binding [GO:0005524]; cyclin-dependent protein serine/threonine kinase activity [GO:0004693]; protein kinase activity [GO:0004672]; protein serine/threonine kinase activity [GO:0004674]; protein phosphorylation [GO:0006468]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q00537-1; Sequence=Displayed; Name=2; IsoId=Q00537-2; Sequence=VSP_043295; Note=No experimental confirmation available.; 


uniprotID: Q9BWU1
geneSymbol: CDK19
reactome: R-HSA-1989781;R-HSA-381340;
length: 502
go: ENSG00000155111;
name:
Cyclin-dependent kinase 19 (EC 2.7.11.22) (CDC2-related protein kinase 6) (Cell division cycle 2-like protein kinase 6) (Cell division protein kinase 19) (Cyclin-dependent kinase 11) (Death-preventing kinase)

sequence:

opentargets:
cytosol [GO:0005829]; mediator complex [GO:0016592]; nucleus [GO:0005634]; ATP binding [GO:0005524]; cyclin-dependent protein serine/threonine kinase activity [GO:0004693]; enzyme binding [GO:0019899]; cellular response to lipopolysaccharide [GO:0071222]; positive regulation of apoptotic process [GO:0043065]; positive regulation of inflammatory response [GO:0050729]; protein phosphorylation [GO:0006468]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9BWU1-1; Sequence=Displayed; Name=2; IsoId=Q9BWU1-2; Sequence=VSP_015857; Note=No experimental confirmation available.; 


uniprotID: P98194
geneSymbol: ATP2C1
reactome: R-HSA-936837;
length: 919
go: ENSG00000017260;
drug: DB01373;DB01189;DB00228;DB01159;DB00753;DB01028;DB01236;
snps: rs137853012 rs1393570830 rs41434650 rs137853014 rs137853015 rs778865612
name:
Calcium-transporting ATPase type 2C member 1 (ATPase 2C1) (EC 3.6.3.8) (ATP-dependent Ca(2+) pump PMR1)

sequence:

opentargets:
Golgi apparatus [GO:0005794]; Golgi membrane [GO:0000139]; integral component of membrane [GO:0016021]; membrane [GO:0016020]; trans-Golgi network [GO:0005802]; ATP binding [GO:0005524]; calcium ion binding [GO:0005509]; calcium-transporting ATPase activity [GO:0005388]; manganese ion binding [GO:0030145]; manganese-transporting ATPase activity [GO:0015410]; metal ion binding [GO:0046872]; proton-exporting ATPase activity, phosphorylative mechanism [GO:0008553]; actin cytoskeleton reorganization [GO:0031532]; ATP hydrolysis coupled cation transmembrane transport [GO:0099132]; calcium ion transmembrane transport [GO:0070588]; calcium ion transport [GO:0006816]; calcium-dependent cell-cell adhesion via plasma membrane cell adhesion molecules [GO:0016339]; cellular calcium ion homeostasis [GO:0006874]; cellular manganese ion homeostasis [GO:0030026]; epidermis development [GO:0008544]; Golgi calcium ion homeostasis [GO:0032468]; Golgi calcium ion transport [GO:0032472]; manganese ion transport [GO:0006828]; positive regulation of I-kappaB kinase/NF-kappaB signaling [GO:0043123]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=9;  Comment=Isoform 1 and isoform 2 are expressed in the same tissues.; Name=1; Synonyms=ATP2C1A; IsoId=P98194-1; Sequence=Displayed; Name=2; Synonyms=ATP2C1B, ATP2C1C; IsoId=P98194-2; Sequence=VSP_000409; Name=3; Synonyms=ATP2C1B; IsoId=P98194-3; Sequence=VSP_000408, VSP_000410; Name=4; Synonyms=ATP2C1A; IsoId=P98194-4; Sequence=VSP_000408; Name=5; Synonyms=ATP2C1B; IsoId=P98194-5; Sequence=VSP_000410; Name=6; Synonyms=ATP2C1D; IsoId=P98194-6; Sequence=VSP_014102; Name=7; IsoId=P98194-7; Sequence=VSP_045892, VSP_000410; Note=No experimental confirmation available.; Name=8; IsoId=P98194-8; Sequence=VSP_045892, VSP_055036, VSP_055037; Note=No experimental confirmation available.; Name=9; IsoId=P98194-9; Sequence=VSP_055037; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Golgi apparatus membrane {ECO:0000269|PubMed:12707275}; Multi-pass membrane protein {ECO:0000269|PubMed:12707275}.


uniprotID: Q76L83
geneSymbol: ASXL2
reactome: R-HSA-5689603;
name: Putative Polycomb group protein ASXL2 (Additional sex combs-like protein 2)
length: 1435
go: ENSG00000143970;
snps: rs13385963 rs17854251 rs12991178 rs12990978
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000305}.
sequence:

opentargets:
nucleoplasm [GO:0005654]; PR-DUB complex [GO:0035517]; chromatin binding [GO:0003682]; DNA binding [GO:0003677]; metal ion binding [GO:0046872]; peroxisome proliferator activated receptor binding [GO:0042975]; animal organ morphogenesis [GO:0009887]; positive regulation of fat cell differentiation [GO:0045600]; positive regulation of peroxisome proliferator activated receptor signaling pathway [GO:0035360]; positive regulation of transcription by RNA polymerase II [GO:0045944]; protein deubiquitination [GO:0016579]; transcription, DNA-templated [GO:0006351]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q76L83-1; Sequence=Displayed; Name=2; IsoId=Q76L83-2; Sequence=VSP_030163, VSP_030164; Note=No experimental confirmation available.; 


uniprotID: Q9H1Y0
geneSymbol: ATG5
reactome: R-HSA-1632852;R-HSA-5205685;R-HSA-8934903;R-HSA-936440;
pdb: 4GDK;4GDL;4NAW;4TQ0;4TQ1;5D7G;5NPV;5NPW;
name: Autophagy protein 5 (APG5-like) (Apoptosis-specific protein)
length: 275
go: ENSG00000057663;
snps: rs1131692265
sequence:

opentargets:
Atg12-Atg5-Atg16 complex [GO:0034274]; autophagosome [GO:0005776]; axoneme [GO:0005930]; cytoplasm [GO:0005737]; cytosol [GO:0005829]; membrane [GO:0016020]; Mitochondria-associated ER Membrane [GO:0044233]; phagocytic vesicle membrane [GO:0030670]; phagophore assembly site membrane [GO:0034045]; aggrephagy [GO:0035973]; antigen processing and presentation of endogenous antigen [GO:0019883]; apoptotic process [GO:0006915]; autophagosome assembly [GO:0000045]; autophagy [GO:0006914]; autophagy of host cells involved in interaction with symbiont [GO:0075044]; autophagy of mitochondrion [GO:0000422]; blood vessel remodeling [GO:0001974]; C-terminal protein lipidation [GO:0006501]; cellular homeostasis [GO:0019725]; cellular response to nitrogen starvation [GO:0006995]; cellular response to nitrosative stress [GO:0071500]; heart contraction [GO:0060047]; macroautophagy [GO:0016236]; negative regulation of apoptotic process [GO:0043066]; negative regulation of cell death [GO:0060548]; negative regulation of histone H4-K16 acetylation [GO:2000619]; negative regulation of phagocytosis [GO:0050765]; negative regulation of protein ubiquitination [GO:0031397]; negative regulation of reactive oxygen species metabolic process [GO:2000378]; negative stranded viral RNA replication [GO:0039689]; negative thymic T cell selection [GO:0045060]; otolith development [GO:0048840]; positive regulation of mucus secretion [GO:0070257]; post-translational protein modification [GO:0043687]; protein lipidation involved in autophagosome assembly [GO:0061739]; regulation of cilium assembly [GO:1902017]; regulation of cytokine secretion involved in immune response [GO:0002739]; regulation of release of sequestered calcium ion into cytosol [GO:0051279]; response to drug [GO:0042493]; response to fungus [GO:0009620]; vasodilation [GO:0042311]; ventricular cardiac muscle cell development [GO:0055015]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=Long; IsoId=Q9H1Y0-1; Sequence=Displayed; Name=Short; Synonyms=APG5beta; IsoId=Q9H1Y0-2; Sequence=VSP_003791; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:17709747}. Preautophagosomal structure membrane; Peripheral membrane protein. Note=Colocalizes with nonmuscle actin. The conjugate detaches from the membrane immediately before or after autophagosome formation is completed (By similarity). Localizes also to discrete punctae along the ciliary axoneme and to the base of the ciliary axoneme. {ECO:0000250}.


uniprotID: Q2TAZ0
geneSymbol: ATG2A
name: Autophagy-related protein 2 homolog A
length: 1938
go: ENSG00000110046;
snps: rs12293826 rs35115827 rs60711419 rs2285347 rs656195 rs11827140
sequence:

opentargets:
cytosol [GO:0005829]; extrinsic component of membrane [GO:0019898]; intracellular membrane-bounded organelle [GO:0043231]; lipid droplet [GO:0005811]; nucleus [GO:0005634]; phagophore assembly site [GO:0000407]; phagophore assembly site membrane [GO:0034045]; autophagosome assembly [GO:0000045]; autophagy of mitochondrion [GO:0000422]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=Q2TAZ0-1; Sequence=Displayed; Name=2; IsoId=Q2TAZ0-3; Sequence=VSP_030515; Note=No experimental confirmation available.; Name=3; IsoId=Q2TAZ0-4; Sequence=VSP_030510, VSP_030516; Note=No experimental confirmation available.; Name=4; IsoId=Q2TAZ0-5; Sequence=VSP_030511, VSP_030512; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Preautophagosomal structure membrane; Peripheral membrane protein. Lipid droplet.


uniprotID: Q9NVI7
geneSymbol: ATAD3A
name: ATPase family AAA domain-containing protein 3A
length: 634
go: ENSG00000197785;
snps: rs2274435 rs1619896
sequence:

opentargets:
integral component of membrane [GO:0016021]; mitochondrial inner membrane [GO:0005743]; mitochondrial nucleoid [GO:0042645]; mitochondrion [GO:0005739]; ATP binding [GO:0005524]; zinc ion binding [GO:0008270]; mitochondrion organization [GO:0007005]; negative regulation of apoptotic process [GO:0043066]; regulation of cell growth [GO:0001558]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q9NVI7-1; Sequence=Displayed; Name=2; IsoId=Q9NVI7-2; Sequence=VSP_015636; Note=May be the predominant ATAD3A form. {ECO:0000269|PubMed:27640307}; Name=3; IsoId=Q9NVI7-3; Sequence=VSP_044145, VSP_015636; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Mitochondrion inner membrane {ECO:0000269|PubMed:18063578, ECO:0000269|PubMed:20154147, ECO:0000269|PubMed:20332122, ECO:0000269|PubMed:20349121}; Single-pass membrane protein {ECO:0000269|PubMed:20154147, ECO:0000269|PubMed:20349121}. Mitochondrion matrix, mitochondrion nucleoid {ECO:0000269|PubMed:17210950, ECO:0000269|PubMed:18063578}. Note=In the mitochondrial inner membrane, enriched in sites with the potential to form contacts with the outer membrane (PubMed:20349121, PubMed:20154147). The N-terminal domain interacts with the inner surface of the mitochondrial outer membrane and the C-terminal domain localizes in a specific matrix compartment, where it is associated with nucleoids (PubMed:18063578). {ECO:0000269|PubMed:18063578, ECO:0000269|PubMed:20154147, ECO:0000269|PubMed:20349121}.


uniprotID: Q8IZT6
geneSymbol: ASPM
length: 3477
go: ENSG00000066279;
name:
Abnormal spindle-like microcephaly-associated protein (Abnormal spindle protein homolog) (Asp homolog)

sequence:

opentargets:
apical plasma membrane [GO:0016324]; centrosome [GO:0005813]; cytoplasm [GO:0005737]; meiotic spindle [GO:0072687]; microtubule minus-end [GO:0036449]; midbody [GO:0030496]; mitotic spindle pole [GO:0097431]; nucleus [GO:0005634]; calmodulin binding [GO:0005516]; protein kinase binding [GO:0019901]; cerebral cortex development [GO:0021987]; developmental growth [GO:0048589]; forebrain neuroblast division [GO:0021873]; maintenance of centrosome location [GO:0051661]; male gonad development [GO:0008584]; negative regulation of asymmetric cell division [GO:0045769]; negative regulation of neuron differentiation [GO:0045665]; neuron migration [GO:0001764]; neuronal stem cell population maintenance [GO:0097150]; oogenesis [GO:0048477]; positive regulation of canonical Wnt signaling pathway [GO:0090263]; positive regulation of neuroblast proliferation [GO:0002052]; regulation of meiotic cell cycle [GO:0051445]; spermatogenesis [GO:0007283]; spindle assembly involved in meiosis [GO:0090306]; spindle localization [GO:0051653]; spindle organization [GO:0007051]

snps:
rs12025066 rs6428388 rs7551108 rs16841081 rs964201 rs587783267 rs41310927 rs12138336 rs3762271 rs36004306 rs193251130 rs7528827 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q8IZT6-1; Sequence=Displayed; Name=2; IsoId=Q8IZT6-2; Sequence=VSP_010680; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250}. Cytoplasm, cytoskeleton, spindle {ECO:0000269|PubMed:15972725}. Nucleus {ECO:0000250}. Note=The nuclear-cytoplasmic distribution could be regulated by the availability of calmodulin (By similarity). Localizes to spindle poles during mitosis (PubMed:19690332). Associates with microtubule minus ends (By similarity). {ECO:0000250|UniProtKB:Q8CJ27}.


uniprotID: Q12797
geneSymbol: ASPH
reactome: R-HSA-2672351;R-HSA-5578775;
pdb: 5APA;5JQY;5JTC;5JZ6;5JZ8;5JZA;5JZU;5JZZ;
length: 758
go: ENSG00000198363;
drug: DB00128;DB00139;
snps: rs6995412 rs374385878
name:
Aspartyl/asparaginyl beta-hydroxylase (EC 1.14.11.16) (Aspartate beta-hydroxylase) (ASP beta-hydroxylase) (Peptide-aspartate beta-dioxygenase)

sequence:

opentargets:
calcium channel complex [GO:0034704]; cell [GO:0005623]; cortical endoplasmic reticulum [GO:0032541]; endoplasmic reticulum [GO:0005783]; endoplasmic reticulum membrane [GO:0005789]; integral component of endoplasmic reticulum membrane [GO:0030176]; integral component of membrane [GO:0016021]; junctional sarcoplasmic reticulum membrane [GO:0014701]; plasma membrane [GO:0005886]; sarcoplasmic reticulum lumen [GO:0033018]; sarcoplasmic reticulum membrane [GO:0033017]; calcium ion binding [GO:0005509]; electron transfer activity [GO:0009055]; ion channel binding [GO:0044325]; peptide-aspartate beta-dioxygenase activity [GO:0004597]; structural constituent of muscle [GO:0008307]; structural molecule activity [GO:0005198]; activation of cysteine-type endopeptidase activity [GO:0097202]; activation of store-operated calcium channel activity [GO:0032237]; calcium ion transmembrane transport [GO:0070588]; cellular response to calcium ion [GO:0071277]; detection of calcium ion [GO:0005513]; face morphogenesis [GO:0060325]; ion transmembrane transport [GO:0034220]; limb morphogenesis [GO:0035108]; muscle contraction [GO:0006936]; negative regulation of cell proliferation [GO:0008285]; pattern specification process [GO:0007389]; peptidyl-aspartic acid hydroxylation [GO:0042264]; positive regulation of calcium ion transport into cytosol [GO:0010524]; positive regulation of intracellular protein transport [GO:0090316]; positive regulation of proteolysis [GO:0045862]; positive regulation of ryanodine-sensitive calcium-release channel activity [GO:0060316]; positive regulation of transcription, DNA-templated [GO:0045893]; regulation of cardiac conduction [GO:1903779]; regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion [GO:0010881]; regulation of cell communication by electrical coupling [GO:0010649]; regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity [GO:0031585]; regulation of protein depolymerization [GO:1901879]; regulation of protein stability [GO:0031647]; regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum [GO:0010880]; regulation of ryanodine-sensitive calcium-release channel activity [GO:0060314]; response to ATP [GO:0033198]; roof of mouth development [GO:0060021]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=11;  Comment=Comment: 3 functionally distinct proteins are produced by alternative splicing: Aspartyl/asparaginyl beta-hydroxylase, Junctin and Junctate. Additional isoforms are produced by alternative splicing. {ECO:0000269|PubMed:11007777}; Name=1; IsoId=Q12797-1; Sequence=Displayed; Name=2; IsoId=Q12797-2; Sequence=VSP_039169, VSP_039170; Name=3; Synonyms=Junctin-1, Cardiac junctin; IsoId=Q12797-3; Sequence=VSP_039165, VSP_039166, VSP_039167, VSP_039168; Name=4; Synonyms=Junctin-2, Junctin; IsoId=Q12797-4; Sequence=VSP_039165, VSP_039167, VSP_039168; Name=5; IsoId=Q12797-5; Sequence=VSP_039165, VSP_039166, VSP_044238, VSP_039169, VSP_039170; Name=10; IsoId=Q12797-10; Sequence=VSP_039165; Name=6; IsoId=Q12797-6; Sequence=VSP_044236, VSP_039169, VSP_039170; Name=7; IsoId=Q12797-7; Sequence=VSP_039166, VSP_044235, VSP_044237; Name=8; Synonyms=Junctate; IsoId=Q12797-8; Sequence=VSP_039165, VSP_039166, VSP_039169, VSP_039170; Name=9; IsoId=Q12797-9; Sequence=VSP_039165, VSP_039166, VSP_044236, VSP_039169, VSP_039170; Name=11; IsoId=Q12797-11; Sequence=VSP_059345, VSP_039169, VSP_039170; 

location:
SUBCELLULAR LOCATION: Isoform 1: Endoplasmic reticulum membrane; Single-pass type II membrane protein {ECO:0000250|UniProtKB:Q28056}.; SUBCELLULAR LOCATION: Isoform 4: Sarcoplasmic reticulum membrane; Single-pass type II membrane protein {ECO:0000305|PubMed:15485681}.; SUBCELLULAR LOCATION: Isoform 8: Endoplasmic reticulum membrane; Single-pass type II membrane protein {ECO:0000269|PubMed:22586105}.


uniprotID: Q96Q40
geneSymbol: CDK15
length: 435
go: ENSG00000138395;
drug: DB00171;
snps: rs34776344 rs56135556 rs34851370
name:
Cyclin-dependent kinase 15 (EC 2.7.11.22) (Amyotrophic lateral sclerosis 2 chromosomal region candidate gene 7 protein) (Cell division protein kinase 15) (Serine/threonine-protein kinase ALS2CR7) (Serine/threonine-protein kinase PFTAIRE-2)

sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; nucleus [GO:0005634]; ATP binding [GO:0005524]; cyclin binding [GO:0030332]; cyclin-dependent protein serine/threonine kinase activity [GO:0004693]; metal ion binding [GO:0046872]; protein serine/threonine kinase activity [GO:0004674]; protein phosphorylation [GO:0006468]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=5;  Name=1; IsoId=Q96Q40-1; Sequence=Displayed; Name=3; IsoId=Q96Q40-3; Sequence=VSP_023745; Note=No experimental confirmation available.; Name=4; IsoId=Q96Q40-4; Sequence=VSP_038765; Name=5; IsoId=Q96Q40-5; Sequence=VSP_047226; Note=Gene prediction based on EST data. May be due to competing acceptor splice site.; Name=6; IsoId=Q96Q40-6; Sequence=VSP_059406, VSP_059407, VSP_059408; 


uniprotID: Q13733
geneSymbol: ATP1A4
reactome: R-HSA-5578775;R-HSA-936837;
length: 1029
go: ENSG00000132681;
drug: DB09479;
snps: rs6427504 rs17368402 rs16831482 rs7528360
name:
Sodium/potassium-transporting ATPase subunit alpha-4 (Na(+)/K(+) ATPase alpha-4 subunit) (EC 3.6.3.9) (Sodium pump subunit alpha-4)

sequence:

opentargets:
integral component of plasma membrane [GO:0005887]; plasma membrane [GO:0005886]; sodium:potassium-exchanging ATPase complex [GO:0005890]; ATP binding [GO:0005524]; metal ion binding [GO:0046872]; sodium:potassium-exchanging ATPase activity [GO:0005391]; ATP hydrolysis coupled proton transport [GO:0015991]; cellular potassium ion homeostasis [GO:0030007]; cellular sodium ion homeostasis [GO:0006883]; fertilization [GO:0009566]; flagellated sperm motility [GO:0030317]; potassium ion import [GO:0010107]; potassium ion transport [GO:0006813]; regulation of cellular pH [GO:0030641]; regulation of membrane potential [GO:0042391]; sodium ion export across plasma membrane [GO:0036376]; sodium ion transport [GO:0006814]; spermatogenesis [GO:0007283]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q13733-1; Sequence=Displayed; Name=2; IsoId=Q13733-2; Sequence=VSP_007364; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:16175638}; Multi-pass membrane protein {ECO:0000269|PubMed:16175638}. Note=In mature sperm, located in the principle piece of the sperm flagellum.


uniprotID: P05023
geneSymbol: ATP1A1
reactome: R-HSA-5578775;R-HSA-936837;
length: 1023
go: ENSG00000163399;
snps: rs12564026
name:
Sodium/potassium-transporting ATPase subunit alpha-1 (Na(+)/K(+) ATPase alpha-1 subunit) (EC 3.6.3.9) (Sodium pump subunit alpha-1)

sequence:

opentargets:
apical plasma membrane [GO:0016324]; basolateral plasma membrane [GO:0016323]; caveola [GO:0005901]; endoplasmic reticulum [GO:0005783]; endosome [GO:0005768]; extracellular exosome [GO:0070062]; extracellular vesicle [GO:1903561]; Golgi apparatus [GO:0005794]; integral component of membrane [GO:0016021]; intercalated disc [GO:0014704]; melanosome [GO:0042470]; membrane [GO:0016020]; myelin sheath [GO:0043209]; plasma membrane [GO:0005886]; postsynaptic density [GO:0014069]; protein-containing complex [GO:0032991]; sarcolemma [GO:0042383]; sodium:potassium-exchanging ATPase complex [GO:0005890]; T-tubule [GO:0030315]; ADP binding [GO:0043531]; ankyrin binding [GO:0030506]; ATP binding [GO:0005524]; chaperone binding [GO:0051087]; phosphatase activity [GO:0016791]; phosphatidylinositol 3-kinase binding [GO:0043548]; potassium ion binding [GO:0030955]; protein domain specific binding [GO:0019904]; protein kinase binding [GO:0019901]; sodium ion binding [GO:0031402]; sodium:potassium-exchanging ATPase activity [GO:0005391]; steroid hormone binding [GO:1990239]; ATP hydrolysis coupled proton transport [GO:0015991]; cardiac muscle cell action potential involved in contraction [GO:0086002]; cell communication by electrical coupling involved in cardiac conduction [GO:0086064]; cellular potassium ion homeostasis [GO:0030007]; cellular response to mechanical stimulus [GO:0071260]; cellular response to steroid hormone stimulus [GO:0071383]; cellular sodium ion homeostasis [GO:0006883]; membrane hyperpolarization [GO:0060081]; membrane repolarization [GO:0086009]; membrane repolarization during cardiac muscle cell action potential [GO:0086013]; negative regulation of glucocorticoid biosynthetic process [GO:0031947]; negative regulation of heart contraction [GO:0045822]; positive regulation of heart contraction [GO:0045823]; positive regulation of striated muscle contraction [GO:0045989]; potassium ion import [GO:0010107]; potassium ion import across plasma membrane [GO:1990573]; regulation of blood pressure [GO:0008217]; regulation of cardiac muscle cell contraction [GO:0086004]; regulation of sodium ion transport [GO:0002028]; regulation of the force of heart contraction [GO:0002026]; relaxation of cardiac muscle [GO:0055119]; response to drug [GO:0042493]; response to glycoside [GO:1903416]; sodium ion export across plasma membrane [GO:0036376]

drug:
DB00511;DB01430;DB01370;DB01244;DB01158;DB01188;DB01078;DB01119;DB01396;DB00390;DB00903;DB00774;DB01378;DB01092;DB01345;DB09479;DB01021;

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; Synonyms=Long; IsoId=P05023-1; Sequence=Displayed; Name=2; Synonyms=Short; IsoId=P05023-2; Sequence=VSP_000415, VSP_000416; 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=P05023-3; Sequence=VSP_044242; Name=4; IsoId=P05023-4; Sequence=VSP_047309; 

location:
SUBCELLULAR LOCATION: Cell membrane, sarcolemma {ECO:0000269|PubMed:7711835}; Multi-pass membrane protein {ECO:0000255}. Melanosome {ECO:0000269|PubMed:17081065}. Note=Identified by mass spectrometry in melanosome fractions from stage I to stage IV. {ECO:0000269|PubMed:17081065}.


uniprotID: P54710
geneSymbol: FXYD2
reactome: R-HSA-5578775;R-HSA-936837;
pdb: 2MKV;
sequence: MTGLSMDGGGSPKGDVDPFYYDYETVRNGGLIFAGLAFIVGLLILLSRRFRCGGNKKRRQINEDEP
length: 66
go: ENSG00000137731;
drug: DB00606;DB09479;
snps: rs28938168
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Single-pass type III membrane protein {ECO:0000305}.
name:
Sodium/potassium-transporting ATPase subunit gamma (Na(+)/K(+) ATPase subunit gamma) (FXYD domain-containing ion transport regulator 2) (Sodium pump gamma chain)

opentargets:
extracellular exosome [GO:0070062]; plasma membrane [GO:0005886]; sodium:potassium-exchanging ATPase complex [GO:0005890]; ion channel activity [GO:0005216]; sodium channel regulator activity [GO:0017080]; sodium:potassium-exchanging ATPase activity [GO:0005391]; transporter activity [GO:0005215]; ATP hydrolysis coupled transmembrane transport [GO:0090662]; potassium ion import across plasma membrane [GO:1990573]; regulation of sodium ion transmembrane transporter activity [GO:2000649]; sodium ion export across plasma membrane [GO:0036376]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; Synonyms=A; IsoId=P54710-1; Sequence=Displayed; Name=2; Synonyms=B; IsoId=P54710-2; Sequence=VSP_001580; 


uniprotID: O76039
geneSymbol: CDKL5
pdb: 4BGQ;
name: Cyclin-dependent kinase-like 5 (EC 2.7.11.22) (Serine/threonine-protein kinase 9)
length: 1030
go: ENSG00000008086;
sequence:

opentargets:
centrosome [GO:0005813]; ciliary basal body [GO:0036064]; ciliary tip [GO:0097542]; cytosol [GO:0005829]; dendrite cytoplasm [GO:0032839]; dendritic growth cone [GO:0044294]; glutamatergic synapse [GO:0098978]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; perinuclear region of cytoplasm [GO:0048471]; postsynaptic density, intracellular component [GO:0099092]; ruffle membrane [GO:0032587]; ATP binding [GO:0005524]; cyclin-dependent protein serine/threonine kinase activity [GO:0004693]; kinase activity [GO:0016301]; protein kinase activity [GO:0004672]; protein serine/threonine kinase activity [GO:0004674]; Rac GTPase binding [GO:0048365]; neuron migration [GO:0001764]; positive regulation of axon extension [GO:0045773]; positive regulation of dendrite morphogenesis [GO:0050775]; positive regulation of dendritic spine development [GO:0060999]; positive regulation of GTPase activity [GO:0043547]; protein autophosphorylation [GO:0046777]; protein phosphorylation [GO:0006468]; regulation of cilium assembly [GO:1902017]; regulation of dendrite development [GO:0050773]; regulation of postsynapse organization [GO:0099175]

snps:
rs122460159 rs62641235 rs62641235 rs267608468 rs122460157 rs61749700 rs267606715 rs267606715 rs267608493 rs61749704 rs267608501 rs267608511 rs267606713 rs267606714 rs267608611 rs61753977 rs199897804 rs267608653 rs55803460 rs35478150 rs62643617 rs773760466 rs267608664 rs866859766 rs35693326 rs34166184 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=O76039-1; Sequence=Displayed; Name=2; IsoId=O76039-2; Sequence=VSP_044082; Note=Predominant transcript in brain.; 

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:16935860}. Cytoplasm, cytoskeleton, cilium basal body {ECO:0000269|PubMed:29420175}. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome {ECO:0000269|PubMed:29420175}.


uniprotID: P42772
geneSymbol: CDKN2B
reactome: R-HSA-2173796;R-HSA-2559580;R-HSA-2559582;R-HSA-2559585;R-HSA-69231;
length: 138
go: ENSG00000147883;
snps: rs1423790481
location: SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:9230210}. Note=Also found in the nucleus.
name:
Cyclin-dependent kinase 4 inhibitor B (Multiple tumor suppressor 2) (MTS-2) (p14-INK4b) (p15-INK4b) (p15INK4B)

sequence:
MREENKGMPSGGGSDEGLASAAARGLVEKVRQLLEAGADPNGVNRFGRRAIQVMMMGSARVAELLLLHGAEPNCADPATLTRPVHDAAREGFLDTLVVLHRAGARLDVRDAWGRLPVDLAEERGHRDVAGYLRTATGD

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; nucleus [GO:0005634]; cyclin-dependent protein serine/threonine kinase inhibitor activity [GO:0004861]; protein kinase binding [GO:0019901]; cell cycle arrest [GO:0007050]; cellular response to extracellular stimulus [GO:0031668]; cellular response to nutrient [GO:0031670]; G2/M transition of mitotic cell cycle [GO:0000086]; megakaryocyte differentiation [GO:0030219]; mitotic cell cycle checkpoint [GO:0007093]; negative regulation of cell proliferation [GO:0008285]; negative regulation of epithelial cell proliferation [GO:0050680]; negative regulation of G1/S transition of mitotic cell cycle [GO:2000134]; negative regulation of phosphorylation [GO:0042326]; positive regulation of transcription by RNA polymerase II [GO:0045944]; positive regulation of transforming growth factor beta receptor signaling pathway [GO:0030511]; regulation of cyclin-dependent protein serine/threonine kinase activity [GO:0000079]; spleen development [GO:0048536]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; Synonyms=p15; IsoId=P42772-1; Sequence=Displayed; Name=2; Synonyms=p10; IsoId=P42772-2; Sequence=VSP_043898; 


uniprotID: Q02641
geneSymbol: CACNB1
reactome: R-HSA-112308;R-HSA-419037;R-HSA-5576892;R-HSA-5576893;
length: 598
go: ENSG00000067191;
drug: DB04855;DB00898;DB00308;DB00653;DB01388;DB00393;DB00421;DB00661;
snps: rs1266205915
name:
Voltage-dependent L-type calcium channel subunit beta-1 (CAB1) (Calcium channel voltage-dependent subunit beta 1)

sequence:

opentargets:
plasma membrane [GO:0005886]; sarcolemma [GO:0042383]; voltage-gated calcium channel complex [GO:0005891]; high voltage-gated calcium channel activity [GO:0008331]; voltage-gated calcium channel activity [GO:0005245]; cellular response to amyloid-beta [GO:1904646]; chemical synaptic transmission [GO:0007268]; neuromuscular junction development [GO:0007528]; regulation of calcium ion transmembrane transport via high voltage-gated calcium channel [GO:1902514]; regulation of voltage-gated calcium channel activity [GO:1901385]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; Synonyms=Beta-1b2, BetaA, Beta-1B, Beta1-2; IsoId=Q02641-1; Sequence=Displayed; Name=2; Synonyms=Beta-1M, BetaC, Beta-1a; IsoId=Q02641-2; Sequence=VSP_000623, VSP_000624, VSP_000625; Name=3; Synonyms=Beta-1b1, BetaB, Beta-1c, Beta1-3; IsoId=Q02641-3; Sequence=VSP_000624, VSP_000625; 

location:
SUBCELLULAR LOCATION: Cell membrane, sarcolemma {ECO:0000305|PubMed:15615847}; Peripheral membrane protein {ECO:0000250|UniProtKB:P19517}; Cytoplasmic side {ECO:0000250|UniProtKB:P19517}. Cell membrane {ECO:0000305|PubMed:1309651}; Peripheral membrane protein {ECO:0000305|PubMed:1309651}.


uniprotID: P55290
geneSymbol: CDH13
reactome: R-HSA-418990;
pdb: 2V37;
name: Cadherin-13 (Heart cadherin) (H-cadherin) (P105) (Truncated cadherin) (T-cad) (T-cadherin)
length: 713
go: ENSG00000140945;
snps: rs368685803 rs199539898 rs183971768 rs7197352 rs377210458 rs200000145 rs35549391 rs34106627
location: SUBCELLULAR LOCATION: Cell membrane; Lipid-anchor, GPI-anchor.
sequence:

opentargets:
anchored component of membrane [GO:0031225]; catenin complex [GO:0016342]; caveola [GO:0005901]; cell surface [GO:0009986]; cell-cell adherens junction [GO:0005913]; collagen-containing extracellular matrix [GO:0062023]; cytoplasm [GO:0005737]; external side of plasma membrane [GO:0009897]; extracellular exosome [GO:0070062]; extracellular region [GO:0005576]; extracellular space [GO:0005615]; focal adhesion [GO:0005925]; GABA-ergic synapse [GO:0098982]; neuron projection [GO:0043005]; perinuclear region of cytoplasm [GO:0048471]; plasma membrane [GO:0005886]; adiponectin binding [GO:0055100]; cadherin binding [GO:0045296]; calcium ion binding [GO:0005509]; cytoskeletal protein binding [GO:0008092]; lipoprotein particle binding [GO:0071813]; low-density lipoprotein particle binding [GO:0030169]; protein homodimerization activity [GO:0042803]; adherens junction organization [GO:0034332]; calcium-dependent cell-cell adhesion via plasma membrane cell adhesion molecules [GO:0016339]; cell-cell adhesion [GO:0098609]; cell-cell adhesion mediated by cadherin [GO:0044331]; cell-cell junction assembly [GO:0007043]; endothelial cell migration [GO:0043542]; homophilic cell adhesion via plasma membrane adhesion molecules [GO:0007156]; keratinocyte proliferation [GO:0043616]; lamellipodium assembly [GO:0030032]; localization within membrane [GO:0051668]; low-density lipoprotein particle mediated signaling [GO:0055096]; mitotic cell cycle [GO:0000278]; negative regulation of cell adhesion [GO:0007162]; negative regulation of cell proliferation [GO:0008285]; positive regulation of calcium-mediated signaling [GO:0050850]; positive regulation of cell migration [GO:0030335]; positive regulation of cell-matrix adhesion [GO:0001954]; positive regulation of endothelial cell proliferation [GO:0001938]; positive regulation of positive chemotaxis [GO:0050927]; positive regulation of smooth muscle cell proliferation [GO:0048661]; positive regulation of transcription by RNA polymerase II [GO:0045944]; Rac protein signal transduction [GO:0016601]; regulation of endocytosis [GO:0030100]; regulation of epidermal growth factor receptor signaling pathway [GO:0042058]; Rho protein signal transduction [GO:0007266]; sprouting angiogenesis [GO:0002040]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=5;  Name=1; IsoId=P55290-1; Sequence=Displayed; Name=2; IsoId=P55290-2; Sequence=VSP_042696, VSP_042697; Name=3; IsoId=P55290-3; Sequence=VSP_042794, VSP_042795; Name=4; IsoId=P55290-4; Sequence=VSP_046714; Note=Gene prediction based on EST data.; Name=5; IsoId=P55290-5; Sequence=VSP_053739; Note=No experimental confirmation available.; 


uniprotID: Q8N4T8
geneSymbol: CBR4
reactome: R-HSA-75105;
pdb: 4CQL;4CQM;
length: 237
go: ENSG00000145439;
snps: rs2877380
name:
Carbonyl reductase family member 4 (EC 1.-.-.-) (3-ketoacyl-[acyl-carrier-protein] reductase beta subunit) (KAR beta subunit) (3-oxoacyl-[acyl-carrier-protein] reductase) (EC 1.1.1.-) (Quinone reductase CBR4) (Short chain dehydrogenase/reductase family 45C member 1)

sequence:

opentargets:
mitochondrial matrix [GO:0005759]; oxidoreductase complex [GO:1990204]; 3-oxoacyl-[acyl-carrier-protein] reductase (NADH) activity [GO:0047025]; NAD(P)H dehydrogenase (quinone) activity [GO:0003955]; NADPH binding [GO:0070402]; NADPH dehydrogenase (quinone) activity [GO:0008753]; quinone binding [GO:0048038]; daunorubicin metabolic process [GO:0044597]; doxorubicin metabolic process [GO:0044598]; fatty acid biosynthetic process [GO:0006633]; oxidation-reduction process [GO:0055114]; protein heterotetramerization [GO:0051290]; protein homotetramerization [GO:0051289]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q8N4T8-1; Sequence=Displayed; Name=2; IsoId=Q8N4T8-2; Sequence=VSP_031527; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Mitochondrion matrix {ECO:0000269|PubMed:19000905, ECO:0000269|PubMed:19571038}.


uniprotID: Q6ZRC1
geneSymbol: C4orf50
name: Uncharacterized protein C4orf50
length: 276
go: ENSG00000181215;
snps: rs16837960 rs6839295 rs7695618
sequence:


uniprotID: C9J302
geneSymbol: C4orf51
name: Uncharacterized protein C4orf51
length: 202
go: ENSG00000237136;
sequence:


uniprotID: Q6YHK3
geneSymbol: CD109
reactome: R-HSA-114608;R-HSA-163125;
length: 1445
go: ENSG00000156535;
snps: rs9446983 rs7741152 rs7742662 rs10455097 rs2351528 rs5023688 rs35630075 rs2917862 rs13207595
name:
CD109 antigen (150 kDa TGF-beta-1-binding protein) (C3 and PZP-like alpha-2-macroglobulin domain-containing protein 7) (Platelet-specific Gov antigen) (p180) (r150) (CD antigen CD109)

sequence:

opentargets:
anchored component of membrane [GO:0031225]; cell surface [GO:0009986]; extracellular region [GO:0005576]; extracellular space [GO:0005615]; plasma membrane [GO:0005886]; platelet alpha granule membrane [GO:0031092]; serine-type endopeptidase inhibitor activity [GO:0004867]; transforming growth factor beta binding [GO:0050431]; hair follicle development [GO:0001942]; negative regulation of keratinocyte proliferation [GO:0010839]; negative regulation of protein phosphorylation [GO:0001933]; negative regulation of transforming growth factor beta receptor signaling pathway [GO:0030512]; negative regulation of wound healing [GO:0061045]; osteoclast fusion [GO:0072675]; platelet degranulation [GO:0002576]; regulation of keratinocyte differentiation [GO:0045616]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; Synonyms=CD109 180-kDa; IsoId=Q6YHK3-1; Sequence=Displayed; Name=2; IsoId=Q6YHK3-2; Sequence=VSP_021312; Note=No experimental confirmation available.; Name=3; IsoId=Q6YHK3-3; Sequence=VSP_021313, VSP_021314; Note=No experimental confirmation available.; Name=4; Synonyms=CD109S; IsoId=Q6YHK3-4; Sequence=VSP_021315; 

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:11861284, ECO:0000269|PubMed:16754747}; Lipid-anchor, GPI-anchor {ECO:0000269|PubMed:11861284, ECO:0000269|PubMed:16754747}.


uniprotID: P32970
geneSymbol: CD70
reactome: R-HSA-5669034;
length: 193
go: ENSG00000125726;
location: SUBCELLULAR LOCATION: Membrane; Single-pass type II membrane protein.
name:
CD70 antigen (CD27 ligand) (CD27-L) (Tumor necrosis factor ligand superfamily member 7) (CD antigen CD70)

sequence:
MPEEGSGCSVRRRPYGCVLRAALVPLVAGLVICLVVCIQRFAQAQQQLPLESLGWDVAELQLNHTGPQQDPRLYWQGGPALGRSFLHGPELDKGQLRIHRDGIYMVHIQVTLAICSSTTASRHHPTTLAVGICSPASRSISLLRLSFHQGCTIASQRLTPLARGDTLCTNLTGTLLPSRNTDETFFGVQWVRP

opentargets:
extracellular exosome [GO:0070062]; integral component of plasma membrane [GO:0005887]; plasma membrane [GO:0005886]; cytokine activity [GO:0005125]; protease binding [GO:0002020]; signaling receptor binding [GO:0005102]; tumor necrosis factor receptor binding [GO:0005164]; cell proliferation [GO:0008283]; cell-cell signaling [GO:0007267]; extrinsic apoptotic signaling pathway [GO:0097191]; immune response [GO:0006955]; signal transduction [GO:0007165]; tumor necrosis factor-mediated signaling pathway [GO:0033209]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P32970-1; Sequence=Displayed; Name=2; IsoId=P32970-2; Sequence=VSP_056416; Note=No experimental confirmation available.; 


uniprotID: O00311
geneSymbol: CDC7
reactome: R-HSA-176187;R-HSA-68962;R-HSA-8953750;
pdb: 4F99;4F9A;4F9B;4F9C;5UWQ;5UWR;
name: Cell division cycle 7-related protein kinase (CDC7-related kinase) (HsCdc7) (huCdc7) (EC 2.7.11.1)
length: 574
go: ENSG00000097046;
snps: rs13447459 rs13447492 rs13447493 rs13447503 rs34979509 rs56327502 rs13447539 rs56381770 rs35055915
location: SUBCELLULAR LOCATION: Nucleus.
sequence:

opentargets:
cytoplasm [GO:0005737]; intercellular bridge [GO:0045171]; mitotic spindle [GO:0072686]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; ATP binding [GO:0005524]; kinase activity [GO:0016301]; metal ion binding [GO:0046872]; protein kinase activity [GO:0004672]; protein serine/threonine kinase activity [GO:0004674]; cell cycle phase transition [GO:0044770]; cell division [GO:0051301]; DNA replication [GO:0006260]; DNA replication initiation [GO:0006270]; double-strand break repair via break-induced replication [GO:0000727]; G1/S transition of mitotic cell cycle [GO:0000082]; negative regulation of G0 to G1 transition [GO:0070317]; peptidyl-serine phosphorylation [GO:0018105]; peptidyl-threonine phosphorylation [GO:0018107]; positive regulation of cell proliferation [GO:0008284]; positive regulation of G2/M transition of mitotic cell cycle [GO:0010971]; positive regulation of nuclear cell cycle DNA replication [GO:0010571]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=1;  Comment=A number of isoforms may be produced.; Name=1; IsoId=O00311-1; Sequence=Displayed; 


uniprotID: P13987
geneSymbol: CD59
reactome: R-HSA-204005;R-HSA-5694530;R-HSA-6798695;R-HSA-6807878;R-HSA-977606;
pdb: 1CDQ;1CDR;1CDS;1ERG;1ERH;2J8B;2OFS;2UWR;2UX2;4BIK;5IMT;5IMY;
length: 128
go: ENSG00000085063;
snps: rs397514767
name:
CD59 glycoprotein (1F5 antigen) (20 kDa homologous restriction factor) (HRF-20) (HRF20) (MAC-inhibitory protein) (MAC-IP) (MEM43 antigen) (Membrane attack complex inhibition factor) (MACIF) (Membrane inhibitor of reactive lysis) (MIRL) (Protectin) (CD antigen CD59)

sequence:
MGIQGGSVLFGLLLVLAVFCHSGHSLQCYNCPNPTADCKTAVNCSSDFDACLITKAGLQVYNKCWKFEHCNFNDVTTRLRENELTYYCCKKDLCNFNEQLENGGTSLSEKTVLLLVTPFLAAAWSLHP

opentargets:
anchored component of external side of plasma membrane [GO:0031362]; cell surface [GO:0009986]; endoplasmic reticulum membrane [GO:0005789]; endoplasmic reticulum-Golgi intermediate compartment membrane [GO:0033116]; ER to Golgi transport vesicle membrane [GO:0012507]; extracellular exosome [GO:0070062]; extracellular space [GO:0005615]; focal adhesion [GO:0005925]; Golgi membrane [GO:0000139]; membrane [GO:0016020]; plasma membrane [GO:0005886]; specific granule membrane [GO:0035579]; tertiary granule membrane [GO:0070821]; transport vesicle [GO:0030133]; vesicle [GO:0031982]; complement binding [GO:0001848]; blood coagulation [GO:0007596]; cell surface receptor signaling pathway [GO:0007166]; COPII vesicle coating [GO:0048208]; ER to Golgi vesicle-mediated transport [GO:0006888]; negative regulation of activation of membrane attack complex [GO:0001971]; neutrophil degranulation [GO:0043312]; regulation of complement activation [GO:0030449]

location:
SUBCELLULAR LOCATION: Cell membrane; Lipid-anchor, GPI-anchor. Secreted. Note=Soluble form found in a number of tissues.


uniprotID: Q49A92
geneSymbol: C8orf34
name: Uncharacterized protein C8orf34 (Protein VEST-1)
length: 538
go: ENSG00000165084;
snps: rs16935065
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=Q49A92-6; Sequence=Displayed; Note=No experimental confirmation available. {ECO:0000305}; Name=2; IsoId=Q49A92-2; Sequence=VSP_059474; Note=No experimental confirmation available. {ECO:0000305}; Name=3; IsoId=Q49A92-3; Sequence=VSP_059475, VSP_059476, VSP_059477; Note=No experimental confirmation available. {ECO:0000305}; Name=4; IsoId=Q49A92-4; Sequence=VSP_059473, VSP_059478; Note=No experimental confirmation available. {ECO:0000305}; 


uniprotID: O14646
geneSymbol: CHD1
reactome: R-HSA-9018519;
pdb: 2B2T;2B2U;2B2V;2B2W;2B2Y;2N39;4B4C;4NW2;4O42;5AFW;
name: Chromodomain-helicase-DNA-binding protein 1 (CHD-1) (EC 3.6.4.12) (ATP-dependent helicase CHD1)
length: 1710
go: ENSG00000153922;
drug: DB00445;
snps: rs1064795875 rs10062803
sequence:

opentargets:
cytoplasm [GO:0005737]; fibrillar center [GO:0001650]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; ATP binding [GO:0005524]; ATP-dependent DNA helicase activity [GO:0004003]; DNA binding [GO:0003677]; methylated histone binding [GO:0035064]; chromatin remodeling [GO:0006338]; covalent chromatin modification [GO:0016569]; positive regulation by host of viral transcription [GO:0043923]; regulation of transcription by RNA polymerase II [GO:0006357]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=O14646-1; Sequence=Displayed; Name=2; IsoId=O14646-2; Sequence=VSP_038432; 

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000250|UniProtKB:P40201}. Cytoplasm {ECO:0000250|UniProtKB:P40201}. Note=Is released into the cytoplasm when cells enter mitosis and is reincorporated into chromatin during telophase-cytokinesis. {ECO:0000250|UniProtKB:P40201}.


uniprotID: Q8TDI0
geneSymbol: CHD5
name: Chromodomain-helicase-DNA-binding protein 5 (CHD-5) (EC 3.6.4.12) (ATP-dependent helicase CHD5)
length: 1954
go: ENSG00000116254;
snps: rs6657997 rs2843493
sequence:

opentargets:
cytosol [GO:0005829]; heterochromatin [GO:0000792]; membrane [GO:0016020]; nuclear speck [GO:0016607]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; NuRD complex [GO:0016581]; ATP binding [GO:0005524]; DNA binding [GO:0003677]; H3K27me3 modified histone binding [GO:0061628]; helicase activity [GO:0004386]; metal ion binding [GO:0046872]; cerebral cortex neuron differentiation [GO:0021895]; histone H3-K27 trimethylation [GO:0098532]; histone H4 acetylation [GO:0043967]; negative regulation of cell proliferation [GO:0008285]; positive regulation of signal transduction by p53 class mediator [GO:1901798]; regulation of transcription involved in cell fate commitment [GO:0060850]; spermatogenesis, exchange of chromosomal proteins [GO:0035093]

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:21931736, ECO:0000269|PubMed:23948251}. Note=Associates with heterochromatin. {ECO:0000250}.


uniprotID: Q9HCK8
geneSymbol: CHD8
reactome: R-HSA-3769402;
pdb: 2CKA;2DL6;
length: 2581
go: ENSG00000100888;
name:
Chromodomain-helicase-DNA-binding protein 8 (CHD-8) (EC 3.6.4.12) (ATP-dependent helicase CHD8) (Helicase with SNF2 domain 1)

sequence:

opentargets:
MLL1 complex [GO:0071339]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; protein-containing complex [GO:0032991]; armadillo repeat domain binding [GO:0070016]; ATP binding [GO:0005524]; beta-catenin binding [GO:0008013]; chromatin binding [GO:0003682]; DNA binding [GO:0003677]; DNA helicase activity [GO:0003678]; DNA-dependent ATPase activity [GO:0008094]; histone binding [GO:0042393]; methylated histone binding [GO:0035064]; p53 binding [GO:0002039]; ATP-dependent chromatin remodeling [GO:0043044]; brain development [GO:0007420]; digestive tract development [GO:0048565]; in utero embryonic development [GO:0001701]; negative regulation of canonical Wnt signaling pathway [GO:0090090]; negative regulation of fibroblast apoptotic process [GO:2000270]; negative regulation of transcription by RNA polymerase II [GO:0000122]; negative regulation of transcription, DNA-templated [GO:0045892]; positive regulation of transcription by RNA polymerase II [GO:0045944]; positive regulation of transcription by RNA polymerase III [GO:0045945]; positive regulation of transcription, DNA-templated [GO:0045893]; prepulse inhibition [GO:0060134]; social behavior [GO:0035176]; Wnt signaling pathway [GO:0016055]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9HCK8-1; Sequence=Displayed; Name=2; IsoId=Q9HCK8-2; Sequence=VSP_017270; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000255|HAMAP-Rule:MF_03071, ECO:0000269|PubMed:18378692, ECO:0000269|PubMed:20453063}. Note=Localizes to the promoter regions of several CTNNB1-responsive genes. Also present at known CTCF target sites. {ECO:0000255|HAMAP-Rule:MF_03071}.


uniprotID: Q49AN0
geneSymbol: CRY2
reactome: R-HSA-400253;
name: Cryptochrome-2
length: 593
go: ENSG00000121671;
sequence:

opentargets:
cytosol [GO:0005829]; extracellular region [GO:0005576]; nuclear speck [GO:0016607]; nucleus [GO:0005634]; blue light photoreceptor activity [GO:0009882]; damaged DNA binding [GO:0003684]; DNA binding [GO:0003677]; FAD binding [GO:0071949]; phosphatase binding [GO:0019902]; single-stranded DNA binding [GO:0003697]; transcription regulatory region sequence-specific DNA binding [GO:0000976]; blue light signaling pathway [GO:0009785]; circadian regulation of gene expression [GO:0032922]; circadian rhythm [GO:0007623]; entrainment of circadian clock by photoperiod [GO:0043153]; glucose homeostasis [GO:0042593]; negative regulation of circadian rhythm [GO:0042754]; negative regulation of glucocorticoid receptor signaling pathway [GO:2000323]; negative regulation of phosphoprotein phosphatase activity [GO:0032515]; negative regulation of transcription by RNA polymerase II [GO:0000122]; negative regulation of transcription, DNA-templated [GO:0045892]; protein-chromophore linkage [GO:0018298]; regulation of circadian rhythm [GO:0042752]; regulation of sodium-dependent phosphate transport [GO:2000118]; response to light stimulus [GO:0009416]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q49AN0-1; Sequence=Displayed; Name=2; IsoId=Q49AN0-2; Sequence=VSP_038970; Note=No experimental confirmation available. {ECO:0000305}; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:9801304}. Nucleus {ECO:0000269|PubMed:22798407, ECO:0000269|PubMed:9801304}. Note=Translocated to the nucleus through interaction with other Clock proteins such as PER2 or ARNTL.


uniprotID: A0A140G945
geneSymbol: CRYAA2
length: 173
go: ENSG00000160202;
name:
Alpha-crystallin A2 chain [Cleaved into: Alpha-crystallin A2(1-172); Alpha-crystallin A2(1-168); Alpha-crystallin A2(1-162)]

sequence:
MDVTIQHPWFKRTLGPFYPSRLFDQFFGEGLFEYDLLPFLSSTISPYYRQSLFRTVLDSGISEVRSDRDKFVIFLDVKHFSPEDLTVKVQDDFVEIHGKHNERQDDHGYISREFHRRYRLPSNVDQSALSCSLSADGMLTFCGPKIQTGLDATHAERAIPVSREEKPTSAPSS

opentargets:
cytosol [GO:0005829]; nucleoplasm [GO:0005654]; metal ion binding [GO:0046872]; structural constituent of eye lens [GO:0005212]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=A0A140G945-1; Sequence=Displayed; Name=2; IsoId=A0A140G945-2; Sequence=VSP_059604; Note=Gene prediction based on EST data. {ECO:0000305}; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:19464326}. Nucleus {ECO:0000269|PubMed:19464326}. Note=Translocates to the nucleus during heat shock and resides in sub-nuclear structures known as SC35 speckles or nuclear splicing speckles.


uniprotID: P02489
geneSymbol: CRYAA
length: 173
go: ENSG00000160202;
snps: rs397515624 rs74315441 rs74315439 rs121912973
name:
Alpha-crystallin A chain (Heat shock protein beta-4) (HspB4) [Cleaved into: Alpha-crystallin A(1-172); Alpha-crystallin A(1-168); Alpha-crystallin A(1-162)]

sequence:
MDVTIQHPWFKRTLGPFYPSRLFDQFFGEGLFEYDLLPFLSSTISPYYRQSLFRTVLDSGISEVRSDRDKFVIFLDVKHFSPEDLTVKVQDDFVEIHGKHNERQDDHGYISREFHRRYRLPSNVDQSALSCSLSADGMLTFCGPKIQTGLDATHAERAIPVSREEKPTSAPSS

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; identical protein binding [GO:0042802]; metal ion binding [GO:0046872]; structural constituent of eye lens [GO:0005212]; unfolded protein binding [GO:0051082]; negative regulation of apoptotic process [GO:0043066]; negative regulation of intracellular transport [GO:0032387]; protein homooligomerization [GO:0051260]; protein stabilization [GO:0050821]; response to stimulus [GO:0050896]; visual perception [GO:0007601]

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:19464326}. Nucleus {ECO:0000269|PubMed:19464326}. Note=Translocates to the nucleus during heat shock and resides in sub-nuclear structures known as SC35 speckles or nuclear splicing speckles.


uniprotID: P02511
geneSymbol: CRYAB
reactome: R-HSA-3371571;
pdb: 2KLR;2N0K;2WJ7;2Y1Y;2Y1Z;2Y22;2YGD;3J07;3L1G;3SGM;3SGN;3SGO;3SGP;3SGR;3SGS;4M5S;4M5T;5VVV;
length: 175
go: ENSG00000109846;
snps: rs2234703 rs2234704 rs1114167341 rs387907339 rs104894201 rs150516929 rs141638421
name:
Alpha-crystallin B chain (Alpha(B)-crystallin) (Heat shock protein beta-5) (HspB5) (Renal carcinoma antigen NY-REN-27) (Rosenthal fiber component)

sequence:
MDIAIHHPWIRRPFFPFHSPSRLFDQFFGEHLLESDLFPTSTSLSPFYLRPPSFLRAPSWFDTGLSEMRLEKDRFSVNLDVKHFSPEELKVKVLGDVIEVHGKHEERQDEHGFISREFHRKYRIPADVDPLTITSSLSSDGVLTVNGPRKQVSGPERTIPITREEKPAVTAAPKK

opentargets:
actin filament bundle [GO:0032432]; axon [GO:0030424]; cardiac myofibril [GO:0097512]; cell surface [GO:0009986]; cytoplasm [GO:0005737]; cytosol [GO:0005829]; dendritic spine [GO:0043197]; extracellular exosome [GO:0070062]; Golgi apparatus [GO:0005794]; M band [GO:0031430]; microtubule cytoskeleton [GO:0015630]; mitochondrion [GO:0005739]; myelin sheath [GO:0043209]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; perikaryon [GO:0043204]; postsynaptic density [GO:0014069]; synaptic membrane [GO:0097060]; Z disc [GO:0030018]; amyloid-beta binding [GO:0001540]; identical protein binding [GO:0042802]; metal ion binding [GO:0046872]; microtubule binding [GO:0008017]; protein homodimerization activity [GO:0042803]; protein-containing complex binding [GO:0044877]; structural constituent of eye lens [GO:0005212]; unfolded protein binding [GO:0051082]; apoptotic process involved in morphogenesis [GO:0060561]; cellular response to gamma radiation [GO:0071480]; lens development in camera-type eye [GO:0002088]; microtubule polymerization or depolymerization [GO:0031109]; multicellular organism aging [GO:0010259]; muscle contraction [GO:0006936]; muscle organ development [GO:0007517]; negative regulation of amyloid fibril formation [GO:1905907]; negative regulation of apoptotic process [GO:0043066]; negative regulation of cell growth [GO:0030308]; negative regulation of cysteine-type endopeptidase activity involved in apoptotic process [GO:0043154]; negative regulation of gene expression [GO:0010629]; negative regulation of intracellular transport [GO:0032387]; negative regulation of protein homooligomerization [GO:0032463]; negative regulation of reactive oxygen species metabolic process [GO:2000378]; protein folding [GO:0006457]; protein homooligomerization [GO:0051260]; protein stabilization [GO:0050821]; regulation of cell death [GO:0010941]; regulation of cellular response to heat [GO:1900034]; response to estradiol [GO:0032355]; response to hydrogen peroxide [GO:0042542]; response to hypoxia [GO:0001666]; stress-activated MAPK cascade [GO:0051403]; tubulin complex assembly [GO:0007021]

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:19464326, ECO:0000269|PubMed:28493373}. Nucleus {ECO:0000269|PubMed:19464326}. Note=Translocates to the nucleus during heat shock and resides in sub-nuclear structures known as SC35 speckles or nuclear splicing speckles (PubMed:19464326). Localizes at the Z-bands and the intercalated disk in cardiomyocytes (PubMed:28493373). {ECO:0000269|PubMed:19464326, ECO:0000269|PubMed:28493373}.


uniprotID: Q14894
geneSymbol: CRYM
reactome: R-HSA-71064;
pdb: 2I99;
name: Ketimine reductase mu-crystallin (EC 1.5.1.25) (NADP-regulated thyroid-hormone-binding protein)
length: 314
go: ENSG00000103316;
drug: DB05235;
snps: rs104894512
location: SUBCELLULAR LOCATION: Cytoplasm.
sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; extracellular exosome [GO:0070062]; mitochondrion [GO:0005739]; nucleus [GO:0005634]; peroxisomal matrix [GO:0005782]; hormone binding [GO:0042562]; NADP binding [GO:0050661]; oxidoreductase activity, acting on the CH-NH2 group of donors, NAD or NADP as acceptor [GO:0016639]; protein homodimerization activity [GO:0042803]; thiomorpholine-carboxylate dehydrogenase activity [GO:0047127]; thyroid hormone binding [GO:0070324]; transcription corepressor activity [GO:0003714]; lysine catabolic process [GO:0006554]; negative regulation of transcription by RNA polymerase II [GO:0000122]; sensory perception of sound [GO:0007605]; thyroid hormone metabolic process [GO:0042403]; thyroid hormone transport [GO:0070327]


uniprotID: Q9NSK7
geneSymbol: C19orf12
name: Protein C19orf12
length: 152
go: ENSG00000131943;
sequence:
MERLKSHKPATMTIMVEDIMKLLCSLSGERKMKAAVKHSGKGALVTGAMAFVGGLVGGPPGLAVGGAVGGLLGAWMTSGQFKPVPQILMELPPAEQQRLFNEAAAIIRHLEWTDAVQLTALVMGSEALQQQLLAMLVNYVTKELRAEIQYDD

opentargets:
cytosol [GO:0005829]; endoplasmic reticulum [GO:0005783]; integral component of membrane [GO:0016021]; mitochondrial membrane [GO:0031966]; mitochondrion [GO:0005739]; apoptotic process [GO:0006915]; autophagy [GO:0006914]; mitochondrial calcium ion homeostasis [GO:0051560]; response to oxidative stress [GO:0006979]

snps:
rs397514477 rs1204865094 rs200133991 rs376103979 rs752450983 rs752450983 rs515726205 rs201987973 rs1384930997 rs146170087 rs79915936 rs73023451 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=4; IsoId=Q9NSK7-1; Sequence=Displayed; Name=2; IsoId=Q9NSK7-2; Sequence=VSP_027227; Name=3; IsoId=Q9NSK7-3; Sequence=VSP_037995, VSP_027228; Name=1; IsoId=Q9NSK7-4; Sequence=VSP_037995; 

location:
SUBCELLULAR LOCATION: Mitochondrion {ECO:0000269|PubMed:21981780, ECO:0000269|PubMed:22508347, ECO:0000269|PubMed:26136767}. Mitochondrion membrane {ECO:0000269|PubMed:21981780, ECO:0000269|PubMed:26136767}; Single-pass membrane protein {ECO:0000255}. Endoplasmic reticulum {ECO:0000269|PubMed:22508347}. Cytoplasm, cytosol {ECO:0000269|PubMed:26136767}. Note=In response to oxidative stress, relocates to the cytosol forming aggregates that partially co-localize with mitochondria. {ECO:0000269|PubMed:26136767}.


uniprotID: Q8NEA5
geneSymbol: C19orf18
name: Uncharacterized protein C19orf18
length: 215
go: ENSG00000177025;
opentargets: extracellular exosome [GO:0070062]; integral component of membrane [GO:0016021]
snps: rs8110831
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Single-pass type I membrane protein {ECO:0000305}.
sequence:


uniprotID: Q9BVV8
geneSymbol: C19orf24
name: Uncharacterized membrane protein C19orf24
length: 132
go: ENSG00000228300;
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Single-pass type I membrane protein {ECO:0000305}.
sequence:
MGPRVLQPPLLLLLLALLLAALPCGAEEASPLRPAQVTLSPPPAVTNGSQPGAPHNSTHTRPPGASGSALTRSFYVILGFCGLTALYFLIRAFRLKKPQRRRYGLLANTEDPTEMASLDSDEETVFESRNLR

opentargets:
cytoplasm [GO:0005737]; extracellular region [GO:0005576]; integral component of membrane [GO:0016021]


uniprotID: Q9UFG5
geneSymbol: C19orf25
name: UPF0449 protein C19orf25
length: 118
go: ENSG00000119559;
sequence:
MGSKAKKRVLLPTRPAPPTVEQILEDVRGAPAEDPVFTILAPEDPPVPFRMMEDAEAPGEQLYQQSRAYVAANQRLQQAGNVLRQRCELLQRAGEDLEREVAQMKQAALPAAEAASSG

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9UFG5-1; Sequence=Displayed; Name=2; IsoId=Q9UFG5-2; Sequence=VSP_020961; Note=No experimental confirmation available.; 


uniprotID: Q9H6X5
geneSymbol: C19orf44
name: Uncharacterized protein C19orf44
length: 657
go: ENSG00000105072;
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9H6X5-1; Sequence=Displayed; Name=2; IsoId=Q9H6X5-2; Sequence=VSP_026311; Note=No experimental confirmation available.; 


uniprotID: Q8N9M1
geneSymbol: C19orf47
name: Uncharacterized protein C19orf47
length: 422
go: ENSG00000160392;
opentargets: nucleoplasm [GO:0005654]
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q8N9M1-1; Sequence=Displayed; Name=2; IsoId=Q8N9M1-2; Sequence=VSP_026275; Name=3; IsoId=Q8N9M1-3; Sequence=VSP_026276; 


uniprotID: Q6RUI8
geneSymbol: C19orf48
name: Uncharacterized protein C19orf48 (Multidrug resistance-related protein)
length: 117
go: ENSG00000167747;
snps: rs7251816 rs4802741 rs4801853
sequence:
MTVLEAVLEIQAITGSRLLSMVPGPARPPGSCWDPTQCTRTWLLSHTPRRRWISGLPRASCRLGEEPPPLPYCDQAYGEELSIRHRETWAWLSRTDTAWPGAPGVKQARILGELLLV


uniprotID: Q5BKX5
geneSymbol: C19orf54
name: UPF0692 protein C19orf54
length: 351
go: ENSG00000188493;
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q5BKX5-1; Sequence=Displayed; Note=No experimental confirmation available.; Name=2; IsoId=Q5BKX5-2; Sequence=VSP_039884, VSP_039885; Note=No experimental confirmation available.; Name=3; IsoId=Q5BKX5-3; Sequence=VSP_039884; Note=No experimental confirmation available.; 


uniprotID: Q0VDD7
geneSymbol: C19orf57
name: Uncharacterized protein C19orf57 (Pre-T/NK cell-associated protein 3B3)
length: 668
go: ENSG00000132016;
opentargets: multicellular organism development [GO:0007275]
snps: rs2305775 rs3803892
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q0VDD7-1; Sequence=Displayed; Name=2; IsoId=Q0VDD7-2; Sequence=VSP_027044; 


uniprotID: A6NJJ6
geneSymbol: C19orf67
name: UPF0575 protein C19orf67
length: 358
go: ENSG00000188032;
sequence:


uniprotID: A6NCJ1
geneSymbol: C19orf71
name: Uncharacterized protein C19orf71
length: 209
go: ENSG00000183397;
snps: rs12608919 rs6510758
sequence:


uniprotID: Q9NVV2
geneSymbol: C19orf73
name: Putative uncharacterized protein C19orf73
length: 129
go: ENSG00000221916;
snps: rs2232003
sequence:
MRLKVGFQGGGCFRKDALCLEGGVSARWARAPHSAPLRPPRELHAAPPPATPTQTVVRPAGFPRRTRLMVRSAPPTQRPPTGSGCVSGLWRKGLGLRPQTLLRVGSVVLSSAPALRPRLGPCLRPPPSD


uniprotID: C9J6K1
geneSymbol: C19orf81
name: Putative uncharacterized protein C19orf81
length: 198
go: ENSG00000235034;
sequence:
MQPEVEPVCFPAMGSPTMHRKAGALLMDLETPEEMQARSLGRPIKSSKQYLRQVIAEYEALDRELPCIRKFPTPPASQPLCLCMETLPEEDFTHLEVLQALEAQLPGAMESGRVSSIRFENMNVICGTAGRRNRWLIAVTDFQTRSRLLRSGLSPRGLAHQIVRHDDLLLGDYRLHLRRSLVRRRMLEALGAEPNEEA


uniprotID: K7EIQ3
geneSymbol: ZNF561-AS1
name: Uncharacterized protein ZNF561-AS1 (ZNF561 antisense RNA 1) (ZNF561 antisense gene protein 1)
length: 104
sequence:
MGRIPGGCSSKAFIGRAQWLTPVIPALWEAKGLTLLSRLECSDVIMDHCSPQLTGLRMKGFLAQTPPLEFPVHQYQPGDHVLIKSWKRESLNQLRRTSSGTLDE

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=K7EIQ3-1; Sequence=Displayed; Name=2; IsoId=K7EIQ3-2; Sequence=VSP_047837; 


uniprotID: I3L1E1
geneSymbol: C19orf84
name: Uncharacterized protein C19orf84
length: 186
go: ENSG00000262874;
sequence:
MEQPKDGAGPEGNNLSLPSSGTEPWPPAPLPAPPPLLLNSTDPTHLGLPESVASVTVPIRLDTLSCLLHSALLGAYTFQQALPSCPCCSQAGHSQPGAVRRPPRGRGGWEVRHRPGWGRGLHRRGLGRAEQPERGRAGGPGAGPRTPPMTLPSPPTLPAQDGKKEARGPEPPLETPLAAEDWETEY


uniprotID: A0A1B0GUS0
geneSymbol: C19orf85
name: Uncharacterized protein C19orf85
length: 222
sequence:


uniprotID: Q9Y600
geneSymbol: CSAD
reactome: R-HSA-1614558;
pdb: 2JIS;
length: 493
go: ENSG00000139631;
drug: DB00151;DB00114;
name:
Cysteine sulfinic acid decarboxylase (EC 4.1.1.29) (Aspartate 1-decarboxylase) (EC 4.1.1.11) (Cysteine-sulfinate decarboxylase) (Sulfinoalanine decarboxylase)

sequence:

opentargets:
aspartate 1-decarboxylase activity [GO:0004068]; pyridoxal phosphate binding [GO:0030170]; sulfinoalanine decarboxylase activity [GO:0004782]; carboxylic acid metabolic process [GO:0019752]; taurine biosynthetic process [GO:0042412]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; Synonyms=Long; IsoId=Q9Y600-1; Sequence=Displayed; Name=2; Synonyms=Short; IsoId=Q9Y600-2; Sequence=VSP_001307; Name=3; IsoId=Q9Y600-3; Sequence=VSP_039002; Note=No experimental confirmation available. {ECO:0000305}; 


uniprotID: Q9Y5P2
geneSymbol: CSAG2; CSAG3
length: 127
go: ENSG00000268916;
opentargets: response to drug [GO:0042493]
name:
Chondrosarcoma-associated gene 2/3 protein (Cancer/testis antigen 24.2) (CT24.2) (Taxol-resistant-associated gene 3 protein) (TRAG-3)

sequence:
MWMGLIQLVEGVKRKDQGFLEKEFYHKTNIKMRCEFLACWPAFTVLGEAWRDQVDWSRLLRDAGLVKMSRKPRASSPLSNNHPPTPKRRGSGRHPLNPGPEALSKFPRQPGREKGPIKEVPGTKGSP

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; Synonyms=Long, TRAG-3L; IsoId=Q9Y5P2-1; Sequence=Displayed; Name=2; Synonyms=Short, TRAG-3S; IsoId=Q9Y5P2-2; Sequence=VSP_004469; Name=3; IsoId=Q9Y5P2-3; Sequence=VSP_034912, VSP_034913; 


uniprotID: Q8TBR5
geneSymbol: CIRBP-AS1
name: Putative uncharacterized protein CIRBP-AS1 (CIRBP antisense RNA 1) (CIRBP antisense gene protein 1)
length: 109
sequence:
MAPEVIRQDFQAGEVAFRRTGYLRGRSVLTQTKHSLAGNGRHPVALRTRLGSLALGAVPTWTKLWAQSTTWQTRNHTRTGHAYPRFTRPSFPSCNRNGKRRKLRLGLPY


uniprotID: Q5T4H9
geneSymbol: CASC10
name: Protein CASC10 (Cancer susceptibility candidate gene 10 protein)
length: 136
go: ENSG00000204682;
snps: rs11012724
sequence:
MQSREPSGWRTAERRRGWRCRGVPTPSGDRGPGAARPAARGGAGETTGQQRPLQVPGASAAAARTRLLRWHHRVPSPRATRSPGSIRRTSPCSGGPDRPERPECADACCYLLDPFTLPLIQDFFRGCAASDFDRRD


uniprotID: Q9P1W3
geneSymbol: TMEM63C
name: Calcium permeable stress-gated cation channel 1 (Transmembrane protein 63C)
length: 806
go: ENSG00000165548;
snps: rs2287384
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Multi-pass membrane protein {ECO:0000305}.
sequence:

opentargets:
integral component of membrane [GO:0016021]; plasma membrane [GO:0005886]; calcium activated cation channel activity [GO:0005227]; cation transport [GO:0006812]


uniprotID: Q6XLA1
geneSymbol: CASC2
name: Protein CASC2, isoform 3 (Cancer susceptibility candidate gene 2 protein, isoform 3)
length: 102
sequence:
MTQEKMYPHLFSERCANQHQHRTAEEKKYVSEKQLIHWRCEEPSAHHNSIDIKRMKHFGSALRLRQTFHLDTADHPCVITMNPALPWKLEGSNSTSTLPLPA

opentargets:
defense response to tumor cell [GO:0002357]; negative regulation of MAPK cascade [GO:0043409]; positive regulation of cysteine-type endopeptidase activity involved in apoptotic process [GO:0043280]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=3; Synonyms=CASC2a; IsoId=Q6XLA1-1; Sequence=Displayed; Name=1; Synonyms=CASC2c; IsoId=Q8IU53-1; Sequence=External; Name=2; Synonyms=CASC2b; IsoId=Q8IU53-2; Sequence=External; 


uniprotID: Q5T3F8
geneSymbol: TMEM63B
name: CSC1-like protein 2 (Transmembrane protein 63B)
length: 832
go: ENSG00000137216;
snps: rs4714759
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Multi-pass membrane protein {ECO:0000305}.
sequence:

opentargets:
actin cytoskeleton [GO:0015629]; integral component of membrane [GO:0016021]; plasma membrane [GO:0005886]; calcium activated cation channel activity [GO:0005227]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q5T3F8-1; Sequence=Displayed; Name=2; IsoId=Q5T3F8-2; Sequence=VSP_023889, VSP_023890; Note=No experimental confirmation available.; Name=3; IsoId=Q5T3F8-3; Sequence=VSP_023891, VSP_023892; Note=No experimental confirmation available.; 


uniprotID: O75534
geneSymbol: CSDE1
pdb: 1WFQ;1X65;2YTV;2YTX;2YTY;
name: Cold shock domain-containing protein E1 (N-ras upstream gene protein) (Protein UNR)
length: 798
go: ENSG00000009307;
location: SUBCELLULAR LOCATION: Cytoplasm.
sequence:

opentargets:
CRD-mediated mRNA stability complex [GO:0070937]; cytosol [GO:0005829]; Golgi apparatus [GO:0005794]; plasma membrane [GO:0005886]; DNA binding [GO:0003677]; RNA binding [GO:0003723]; male gonad development [GO:0008584]; nuclear-transcribed mRNA catabolic process, no-go decay [GO:0070966]; regulation of transcription, DNA-templated [GO:0006355]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=O75534-1; Sequence=Displayed; Name=2; IsoId=O75534-2; Sequence=VSP_001138; Note=No experimental confirmation available.; Name=3; IsoId=O75534-3; Sequence=VSP_045615, VSP_001138; Note=No experimental confirmation available.; Name=4; IsoId=O75534-4; Sequence=VSP_045615; 


uniprotID: Q9Y2W7
geneSymbol: KCNIP3
reactome: R-HSA-5576894;
pdb: 2E6W;
length: 256
go: ENSG00000115041;
snps: rs35658670
name:
Calsenilin (A-type potassium channel modulatory protein 3) (DRE-antagonist modulator) (DREAM) (Kv channel-interacting protein 3) (KChIP3)

sequence:

opentargets:
axon terminus [GO:0043679]; cytosol [GO:0005829]; dendrite [GO:0030425]; endoplasmic reticulum [GO:0005783]; Golgi apparatus [GO:0005794]; nucleus [GO:0005634]; plasma membrane [GO:0005886]; protein-DNA complex [GO:0032993]; voltage-gated potassium channel complex [GO:0008076]; calcium ion binding [GO:0005509]; DNA binding [GO:0003677]; ion channel binding [GO:0044325]; potassium channel activity [GO:0005267]; potassium channel regulator activity [GO:0015459]; proximal promoter DNA-binding transcription repressor activity, RNA polymerase II-specific [GO:0001078]; RNA polymerase II proximal promoter sequence-specific DNA binding [GO:0000978]; transcription corepressor activity [GO:0003714]; voltage-gated ion channel activity [GO:0005244]; apoptotic process [GO:0006915]; intracellular protein transport [GO:0006886]; protein localization to plasma membrane [GO:0072659]; regulation of potassium ion transmembrane transport [GO:1901379]; regulation of transcription by RNA polymerase II [GO:0006357]; signal transduction [GO:0007165]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; Synonyms=KChIP3.1; IsoId=Q9Y2W7-1; Sequence=Displayed; Name=2; Synonyms=KChIP3.2, KChIP4.2; IsoId=Q9Y2W7-2; Sequence=VSP_015040; Note=No experimental confirmation available.; Name=3; Synonyms=KChip3.x; IsoId=Q9Y2W7-3; Sequence=VSP_040982, VSP_040983; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:18957440}. Cell membrane {ECO:0000269|PubMed:15485870, ECO:0000269|PubMed:18957440}; Lipid-anchor {ECO:0000250}. Endoplasmic reticulum {ECO:0000269|PubMed:11278424, ECO:0000269|PubMed:18957440}. Golgi apparatus {ECO:0000269|PubMed:11278424}. Nucleus {ECO:0000269|PubMed:21070824}. Note=Also membrane-bound, associated with the plasma membrane (PubMed:15485870). In the presence of PSEN2 associated with the endoplasmic reticulum and Golgi. The sumoylated form is present only in the nucleus. {ECO:0000269|PubMed:11278424, ECO:0000269|PubMed:15485870, ECO:0000269|PubMed:21070824}.


uniprotID: P07333
geneSymbol: CSF1R
reactome: R-HSA-449836;
pdb: 2I0V;2I0Y;2I1M;2OGV;3BEA;3DPK;3KRJ;3KRL;3LCD;3LCO;4DKD;4HW7;4LIQ;4R7H;4R7I;4WRL;4WRM;
length: 972
go: ENSG00000182578;
drug: DB07167;DB07202;DB06080;DB00619;DB01268;
location: SUBCELLULAR LOCATION: Cell membrane; Single-pass type I membrane protein.
name:
Macrophage colony-stimulating factor 1 receptor (CSF-1 receptor) (CSF-1-R) (CSF-1R) (M-CSF-R) (EC 2.7.10.1) (Proto-oncogene c-Fms) (CD antigen CD115)

sequence:

opentargets:
cell surface [GO:0009986]; CSF1-CSF1R complex [GO:1990682]; cytoplasm [GO:0005737]; integral component of plasma membrane [GO:0005887]; intracellular membrane-bounded organelle [GO:0043231]; nucleoplasm [GO:0005654]; plasma membrane [GO:0005886]; receptor complex [GO:0043235]; ATP binding [GO:0005524]; cytokine binding [GO:0019955]; macrophage colony-stimulating factor receptor activity [GO:0005011]; protein homodimerization activity [GO:0042803]; protein phosphatase binding [GO:0019903]; transmembrane receptor protein tyrosine kinase activity [GO:0004714]; transmembrane signaling receptor activity [GO:0004888]; axon guidance [GO:0007411]; cell differentiation [GO:0030154]; cell proliferation [GO:0008283]; cell-cell junction maintenance [GO:0045217]; cellular response to cytokine stimulus [GO:0071345]; cellular response to macrophage colony-stimulating factor stimulus [GO:0036006]; cytokine-mediated signaling pathway [GO:0019221]; forebrain neuron differentiation [GO:0021879]; hemopoiesis [GO:0030097]; inflammatory response [GO:0006954]; innate immune response [GO:0045087]; macrophage colony-stimulating factor signaling pathway [GO:0038145]; macrophage differentiation [GO:0030225]; mammary gland duct morphogenesis [GO:0060603]; monocyte differentiation [GO:0030224]; multicellular organism development [GO:0007275]; negative regulation of apoptotic process [GO:0043066]; negative regulation of cell proliferation [GO:0008285]; negative regulation of signal transduction [GO:0009968]; olfactory bulb development [GO:0021772]; osteoclast differentiation [GO:0030316]; peptidyl-tyrosine phosphorylation [GO:0018108]; phosphatidylinositol metabolic process [GO:0046488]; phosphatidylinositol-mediated signaling [GO:0048015]; positive regulation of cell migration [GO:0030335]; positive regulation of cell motility [GO:2000147]; positive regulation of cell proliferation [GO:0008284]; positive regulation of chemokine secretion [GO:0090197]; positive regulation of ERK1 and ERK2 cascade [GO:0070374]; positive regulation of protein phosphorylation [GO:0001934]; positive regulation of protein serine/threonine kinase activity [GO:0071902]; positive regulation of protein tyrosine kinase activity [GO:0061098]; positive regulation of tyrosine phosphorylation of STAT protein [GO:0042531]; protein autophosphorylation [GO:0046777]; regulation of actin cytoskeleton reorganization [GO:2000249]; regulation of bone resorption [GO:0045124]; regulation of cell shape [GO:0008360]; ruffle organization [GO:0031529]; signal transduction [GO:0007165]; transmembrane receptor protein tyrosine kinase signaling pathway [GO:0007169]

snps:
rs56048668 rs41338945 rs3829986 rs10079250 rs34951517 rs55942044 rs281860268 rs281860269 rs690016559 rs201569135 rs41355444 rs281860270 rs281860271 rs281860273 rs281860274 rs387906662 rs690016558 rs281860277 rs281860278 rs281860279 rs281860280 rs690016560 rs34030164 rs56059682 rs1801271 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P07333-1; Sequence=Displayed; Name=2; IsoId=P07333-2; Sequence=VSP_047757, VSP_047758; 


uniprotID: P09603
geneSymbol: CSF1
reactome: R-HSA-381426;R-HSA-449836;R-HSA-6783783;R-HSA-8957275;
pdb: 1HMC;3UEZ;3UF2;4ADF;4FA8;4WRL;4WRM;5LXF;
length: 554
go: ENSG00000184371;
snps: rs12565736 rs1058885 rs2229165 rs333971 rs12721516 rs2229167
name:
Macrophage colony-stimulating factor 1 (CSF-1) (M-CSF) (MCSF) (Lanimostim) [Cleaved into: Processed macrophage colony-stimulating factor 1]

sequence:

opentargets:
CSF1-CSF1R complex [GO:1990682]; endoplasmic reticulum lumen [GO:0005788]; extracellular region [GO:0005576]; extracellular space [GO:0005615]; integral component of membrane [GO:0016021]; membrane [GO:0016020]; perinuclear region of cytoplasm [GO:0048471]; plasma membrane [GO:0005886]; cytokine activity [GO:0005125]; growth factor activity [GO:0008083]; identical protein binding [GO:0042802]; macrophage colony-stimulating factor receptor binding [GO:0005157]; protein homodimerization activity [GO:0042803]; branching involved in mammary gland duct morphogenesis [GO:0060444]; cell differentiation [GO:0030154]; cell proliferation [GO:0008283]; cellular protein metabolic process [GO:0044267]; cytokine-mediated signaling pathway [GO:0019221]; developmental process involved in reproduction [GO:0003006]; hemopoiesis [GO:0030097]; homeostasis of number of cells within a tissue [GO:0048873]; inflammatory response [GO:0006954]; innate immune response [GO:0045087]; macrophage colony-stimulating factor signaling pathway [GO:0038145]; macrophage differentiation [GO:0030225]; mammary duct terminal end bud growth [GO:0060763]; mammary gland fat development [GO:0060611]; monocyte activation [GO:0042117]; osteoclast differentiation [GO:0030316]; osteoclast proliferation [GO:0002158]; positive regulation of cell migration [GO:0030335]; positive regulation of cell proliferation [GO:0008284]; positive regulation of cell-matrix adhesion [GO:0001954]; positive regulation of cellular protein metabolic process [GO:0032270]; positive regulation of gene expression [GO:0010628]; positive regulation of macrophage chemotaxis [GO:0010759]; positive regulation of macrophage colony-stimulating factor signaling pathway [GO:1902228]; positive regulation of macrophage derived foam cell differentiation [GO:0010744]; positive regulation of macrophage differentiation [GO:0045651]; positive regulation of microglial cell migration [GO:1904141]; positive regulation of monocyte differentiation [GO:0045657]; positive regulation of mononuclear cell proliferation [GO:0032946]; positive regulation of multicellular organism growth [GO:0040018]; positive regulation of odontogenesis of dentin-containing tooth [GO:0042488]; positive regulation of osteoclast differentiation [GO:0045672]; positive regulation of protein kinase activity [GO:0045860]; positive regulation of Ras protein signal transduction [GO:0046579]; post-translational protein modification [GO:0043687]; regulation of macrophage derived foam cell differentiation [GO:0010743]; regulation of ossification [GO:0030278]; transmembrane receptor protein tyrosine kinase signaling pathway [GO:0007169]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=P09603-1; Sequence=Displayed; Name=2; IsoId=P09603-2; Sequence=VSP_001188; Name=3; IsoId=P09603-3; Sequence=VSP_001187; 

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:1531650, ECO:0000269|PubMed:3264877}; Single-pass type I membrane protein {ECO:0000269|PubMed:1531650, ECO:0000269|PubMed:3264877}.; SUBCELLULAR LOCATION: Processed macrophage colony-stimulating factor 1: Secreted, extracellular space.


uniprotID: Q9BZP6
geneSymbol: CHIA
reactome: R-HSA-189085;
pdb: 2YBT;2YBU;3FXY;3FY1;3RM4;3RM8;3RM9;3RME;
name: Acidic mammalian chitinase (AMCase) (EC 3.2.1.14) (Lung-specific protein TSA1902)
length: 476
go: ENSG00000134216;
sequence:

opentargets:
cytoplasm [GO:0005737]; extracellular region [GO:0005576]; extracellular space [GO:0005615]; carbohydrate binding [GO:0030246]; chitin binding [GO:0008061]; chitinase activity [GO:0004568]; kinase binding [GO:0019900]; lysozyme activity [GO:0003796]; apoptotic process [GO:0006915]; cell wall chitin metabolic process [GO:0006037]; chitin catabolic process [GO:0006032]; chitin metabolic process [GO:0006030]; digestion [GO:0007586]; immune response [GO:0006955]; polysaccharide catabolic process [GO:0000272]; polysaccharide digestion [GO:0044245]; positive regulation of chemokine secretion [GO:0090197]; production of molecular mediator involved in inflammatory response [GO:0002532]; response to fungus [GO:0009620]

snps:
rs41282492 rs41282494 rs41282496 rs3818822 rs61756687 rs2256721 rs2275253 rs2275254 rs36011905 rs2256721 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q9BZP6-1; Sequence=Displayed; Name=2; Synonyms=TSA1902-L; IsoId=Q9BZP6-2; Sequence=VSP_008635; Name=3; Synonyms=TSA1902-S; IsoId=Q9BZP6-3; Sequence=VSP_008634; 

location:
SUBCELLULAR LOCATION: Isoform 1: Secreted. Note=Secretion depends on EGFR activity.; SUBCELLULAR LOCATION: Isoform 2: Cytoplasm.; SUBCELLULAR LOCATION: Isoform 3: Cytoplasm.


uniprotID: Q99062
geneSymbol: CSF3R
reactome: R-HSA-449836;
pdb: 1AZ7;2D9Q;
name: Granulocyte colony-stimulating factor receptor (G-CSF receptor) (G-CSF-R) (CD antigen CD114)
length: 836
go: ENSG00000119535;
drug: DB05249;DB00099;DB09560;DB13144;DB00019;
sequence:

opentargets:
external side of plasma membrane [GO:0009897]; extracellular region [GO:0005576]; integral component of plasma membrane [GO:0005887]; plasma membrane [GO:0005886]; receptor complex [GO:0043235]; cytokine binding [GO:0019955]; cytokine receptor activity [GO:0004896]; granulocyte colony-stimulating factor binding [GO:0051916]; interleukin-3 binding [GO:0019978]; interleukin-3 receptor activity [GO:0004912]; signaling receptor activity [GO:0038023]; amelogenesis [GO:0097186]; cell adhesion [GO:0007155]; cytokine-mediated signaling pathway [GO:0019221]; defense response [GO:0006952]; neutrophil chemotaxis [GO:0030593]; regulation of myeloid cell differentiation [GO:0045637]; signal transduction [GO:0007165]

snps:
rs764202764 rs3917973 rs606231473 rs3918018 rs3917974 rs3918019 rs3918020 rs3917991 rs3917996 rs3917997 rs121918426 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Comment=Additional isoforms seem to exist. Experimental confirmation may be lacking for some isoforms.; Name=1; Synonyms=GCSFR-1; IsoId=Q99062-1; Sequence=Displayed; Name=2; Synonyms=GCSFR-2; IsoId=Q99062-2; Sequence=VSP_001674; Name=3; Synonyms=GCSFR-3; IsoId=Q99062-3; Sequence=VSP_001673; Name=4; Synonyms=GCSFR-4, D7; IsoId=Q99062-4; Sequence=VSP_001671, VSP_001672; 

location:
SUBCELLULAR LOCATION: Isoform 2: Secreted {ECO:0000305}.; SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:24753537}; Single-pass type I membrane protein {ECO:0000255}.


uniprotID: P09919
geneSymbol: CSF3
reactome: R-HSA-449836;R-HSA-6783783;
pdb: 1CD9;1GNC;1PGR;1RHG;2D9Q;5GW9;
name: Granulocyte colony-stimulating factor (G-CSF) (Pluripoietin) (Filgrastim) (Lenograstim)
length: 207
go: ENSG00000108342;
snps: rs2227329 rs2227330
location: SUBCELLULAR LOCATION: Secreted.
sequence:

opentargets:
extracellular region [GO:0005576]; extracellular space [GO:0005615]; cytokine activity [GO:0005125]; enzyme binding [GO:0019899]; granulocyte colony-stimulating factor receptor binding [GO:0005130]; growth factor activity [GO:0008083]; cellular response to cytokine stimulus [GO:0071345]; cellular response to lipopolysaccharide [GO:0071222]; cytokine-mediated signaling pathway [GO:0019221]; granulocyte differentiation [GO:0030851]; immune response [GO:0006955]; multicellular organism development [GO:0007275]; negative regulation of neuron death [GO:1901215]; positive regulation of actin cytoskeleton reorganization [GO:2000251]; positive regulation of actin filament polymerization [GO:0030838]; positive regulation of cell proliferation [GO:0008284]; positive regulation of DNA-binding transcription factor activity [GO:0051091]; positive regulation of myeloid cell differentiation [GO:0045639]; positive regulation of peptidyl-serine phosphorylation [GO:0033138]; positive regulation of peptidyl-tyrosine phosphorylation [GO:0050731]; positive regulation of phosphatidylinositol 3-kinase signaling [GO:0014068]; positive regulation of protein binding [GO:0032092]; positive regulation of protein kinase B signaling [GO:0051897]; positive regulation of transcription by RNA polymerase II [GO:0045944]; response to ethanol [GO:0045471]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=Long; IsoId=P09919-1; Sequence=Displayed; Name=Short; IsoId=P09919-2; Sequence=VSP_002673; Name=3; IsoId=P09919-3; Sequence=VSP_045246; Note=No experimental confirmation available.; 


uniprotID: Q5VXU3
geneSymbol: CHIC1
name: Cysteine-rich hydrophobic domain-containing protein 1 (Brain X-linked protein)
length: 224
go: ENSG00000204116;
opentargets: cytoplasmic vesicle [GO:0031410]; plasma membrane [GO:0005886]
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q5VXU3-1; Sequence=Displayed; Name=2; IsoId=Q5VXU3-2; Sequence=VSP_034830; 

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000250}. Cytoplasmic vesicle {ECO:0000250}. Note=Also present at a Golgi-like vesicular compartment and at scattered vesicles. {ECO:0000250}.


uniprotID: Q9BWS9
geneSymbol: CHID1
reactome: R-HSA-114608;
pdb: 3BXW;
name: Chitinase domain-containing protein 1 (Stabilin-1-interacting chitinase-like protein) (SI-CLP)
length: 393
go: ENSG00000177830;
snps: rs1127800 rs6682
sequence:

opentargets:
extracellular exosome [GO:0070062]; extracellular region [GO:0005576]; extracellular space [GO:0005615]; late endosome [GO:0005770]; lysosomal lumen [GO:0043202]; lysosome [GO:0005764]; membrane [GO:0016020]; nucleus [GO:0005634]; trans-Golgi network [GO:0005802]; chitin binding [GO:0008061]; oligosaccharide binding [GO:0070492]; carbohydrate metabolic process [GO:0005975]; innate immune response [GO:0045087]; negative regulation of cytokine production involved in inflammatory response [GO:1900016]; platelet degranulation [GO:0002576]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q9BWS9-1; Sequence=Displayed; Name=2; IsoId=Q9BWS9-2; Sequence=VSP_023825; Name=3; IsoId=Q9BWS9-3; Sequence=VSP_023826; 

location:
SUBCELLULAR LOCATION: Secreted {ECO:0000269|PubMed:16357325}. Lysosome {ECO:0000269|PubMed:16357325}.


uniprotID: P15882
geneSymbol: CHN1
reactome: R-HSA-194840;
pdb: 2OSA;3CXL;
name: N-chimaerin (A-chimaerin) (Alpha-chimerin) (N-chimerin) (NC) (Rho GTPase-activating protein 2)
length: 459
go: ENSG00000128656;
snps: rs121912792 rs121912793 rs121912794 rs121912795 rs121912796 rs121912797 rs121912798
sequence:

opentargets:
cytosol [GO:0005829]; ephrin receptor binding [GO:0046875]; GTPase activator activity [GO:0005096]; metal ion binding [GO:0046872]; SH3/SH2 adaptor activity [GO:0005070]; ephrin receptor signaling pathway [GO:0048013]; intracellular signal transduction [GO:0035556]; motor neuron axon guidance [GO:0008045]; regulation of axonogenesis [GO:0050770]; regulation of small GTPase mediated signal transduction [GO:0051056]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=Alpha-2; IsoId=P15882-1; Sequence=Displayed; Name=Alpha-1; IsoId=P15882-2; Sequence=VSP_001636; Name=3; IsoId=P15882-3; Sequence=VSP_043297; Note=No experimental confirmation available.; 


uniprotID: P0DML2
geneSymbol: CSH1
reactome: R-HSA-1170546;R-HSA-982772;
pdb: 1Z7C;
name: Chorionic somatomammotropin hormone 1 (Choriomammotropin) (Lactogen) (Placental lactogen) (PL)
length: 217
go: ENSG00000136488;
location: SUBCELLULAR LOCATION: Secreted.
sequence:

opentargets:
endoplasmic reticulum [GO:0005783]; endosome lumen [GO:0031904]; extracellular region [GO:0005576]; extracellular space [GO:0005615]; vesicle [GO:0031982]; growth factor activity [GO:0008083]; growth hormone receptor binding [GO:0005131]; hormone activity [GO:0005179]; metal ion binding [GO:0046872]; animal organ development [GO:0048513]; growth hormone receptor signaling pathway [GO:0060396]; JAK-STAT cascade involved in growth hormone signaling pathway [GO:0060397]; positive regulation of growth [GO:0045927]; positive regulation of JAK-STAT cascade [GO:0046427]; positive regulation of peptidyl-tyrosine phosphorylation [GO:0050731]; positive regulation of tyrosine phosphorylation of STAT protein [GO:0042531]; response to nutrient levels [GO:0031667]


uniprotID: P0DML3
geneSymbol: CSH2
name: Chorionic somatomammotropin hormone 2 (Choriomammotropin) (Lactogen) (Placental lactogen) (PL)
length: 217
go: ENSG00000213218;
location: SUBCELLULAR LOCATION: Secreted.
sequence:

opentargets:
endoplasmic reticulum [GO:0005783]; extracellular space [GO:0005615]; vesicle [GO:0031982]; growth factor activity [GO:0008083]; growth hormone receptor binding [GO:0005131]; hormone activity [GO:0005179]; metal ion binding [GO:0046872]; animal organ development [GO:0048513]; growth hormone receptor signaling pathway [GO:0060396]; positive regulation of growth [GO:0045927]; positive regulation of JAK-STAT cascade [GO:0046427]; positive regulation of peptidyl-tyrosine phosphorylation [GO:0050731]; positive regulation of tyrosine phosphorylation of STAT protein [GO:0042531]; response to nutrient levels [GO:0031667]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative promoter usage; Named isoforms=3;  Name=1; IsoId=P0DML3-1; Sequence=Displayed; Name=2; IsoId=P0DML3-2; Sequence=VSP_055245; Note=No experimental confirmation available. Gene prediction based on EST data.; Name=3; IsoId=P0DML3-3; Sequence=VSP_055244; Note=No experimental confirmation available. Gene prediction based on EST data.; 


uniprotID: Q13231
geneSymbol: CHIT1
reactome: R-HSA-189085;R-HSA-6798695;
pdb: 1GUV;1HKI;1HKJ;1HKK;1HKM;1LG1;1LG2;1LQ0;1WAW;1WB0;4WJX;4WK9;4WKA;4WKF;4WKH;5HBF;5NR8;5NRA;5NRF;
name: Chitotriosidase-1 (EC 3.2.1.14) (Chitinase-1)
length: 466
go: ENSG00000133063;
drug: DB03539;DB04404;DB04350;DB03632;DB02325;DB03109;
snps: rs35920428 rs137852607 rs2297950 rs12562058 rs1065761
location: SUBCELLULAR LOCATION: Secreted. Lysosome. Note=A small proportion is lysosomal.
sequence:

opentargets:
extracellular region [GO:0005576]; extracellular space [GO:0005615]; lysosome [GO:0005764]; specific granule lumen [GO:0035580]; tertiary granule lumen [GO:1904724]; chitin binding [GO:0008061]; chitinase activity [GO:0004568]; endochitinase activity [GO:0008843]; hydrolase activity, hydrolyzing O-glycosyl compounds [GO:0004553]; chitin catabolic process [GO:0006032]; immune response [GO:0006955]; neutrophil degranulation [GO:0043312]; polysaccharide catabolic process [GO:0000272]; polysaccharide digestion [GO:0044245]; response to bacterium [GO:0009617]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=Q13231-1; Sequence=Displayed; Name=2; IsoId=Q13231-2; Sequence=VSP_008631, VSP_008632; Name=3; IsoId=Q13231-3; Sequence=VSP_008633; Note=Duplication of 24 bp in exon 10 leads to the use of a cryptic splice site. The normal splice site is still present but not used.; Name=4; IsoId=Q13231-4; Sequence=VSP_044816; Note=No experimental confirmation available.; 


uniprotID: Q99966
geneSymbol: CITED1
reactome: R-HSA-8866907;R-HSA-9018519;
name: Cbp/p300-interacting transactivator 1 (Melanocyte-specific protein 1)
length: 193
go: ENSG00000125931;
snps: rs3012627
sequence:
MPTTSRPALDVKGGTSPAKEDANQEMSSVAYSNLAVKDRKAVAILHYPGVASNGTKASGAPTSSSGSPIGSPTTTPPTKPPSFNLHPAPHLLASMHLQKLNSQYQGMAAATPGQPGEAGPLQNWDFGAQAGGAESLSPSAGAQSPAIIDSDPVDEEVLMSLVVELGLDRANELPELWLGQNEFDFTADFPSSC

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; chromatin binding [GO:0003682]; co-SMAD binding [GO:0070410]; DNA-binding transcription factor activity [GO:0003700]; LBD domain binding [GO:0050693]; protein C-terminus binding [GO:0008022]; protein homodimerization activity [GO:0042803]; transcription coactivator activity [GO:0003713]; transcription regulatory region DNA binding [GO:0044212]; apoptotic process [GO:0006915]; brain development [GO:0007420]; branching involved in ureteric bud morphogenesis [GO:0001658]; cell proliferation [GO:0008283]; embryonic axis specification [GO:0000578]; labyrinthine layer development [GO:0060711]; melanin biosynthetic process [GO:0042438]; melanocyte differentiation [GO:0030318]; mesenchymal to epithelial transition [GO:0060231]; metanephros development [GO:0001656]; negative regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis [GO:0003340]; negative regulation of neuron apoptotic process [GO:0043524]; negative regulation of osteoblast differentiation [GO:0045668]; negative regulation of transcription, DNA-templated [GO:0045892]; negative regulation of Wnt signaling pathway [GO:0030178]; nucleocytoplasmic transport [GO:0006913]; pigmentation [GO:0043473]; placenta development [GO:0001890]; positive regulation of gene expression [GO:0010628]; positive regulation of transcription, DNA-templated [GO:0045893]; positive regulation of transforming growth factor beta receptor signaling pathway [GO:0030511]; regulation of apoptotic process [GO:0042981]; regulation of transcription by RNA polymerase II [GO:0006357]; response to cAMP [GO:0051591]; response to cytokine [GO:0034097]; response to estrogen [GO:0043627]; response to insulin [GO:0032868]; response to interferon-gamma [GO:0034341]; response to interleukin-1 [GO:0070555]; response to interleukin-11 [GO:0071105]; response to interleukin-2 [GO:0070669]; response to interleukin-4 [GO:0070670]; response to interleukin-6 [GO:0070741]; response to interleukin-9 [GO:0071104]; response to lipopolysaccharide [GO:0032496]; response to parathyroid hormone [GO:0071107]; response to transforming growth factor beta [GO:0071559]; SMAD protein signal transduction [GO:0060395]; spongiotrophoblast layer development [GO:0060712]; transforming growth factor beta receptor signaling pathway [GO:0007179]; vasculogenesis [GO:0001570]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q99966-1; Sequence=Displayed; Name=2; IsoId=Q99966-2; Sequence=VSP_039897; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:16864582}. Cytoplasm {ECO:0000269|PubMed:16864582}. Note=Shuttles between the nucleus and the cytoplasm by a nuclear export signal and (NES) in a CRM1-dependent manner.


uniprotID: Q8WYA6
geneSymbol: CTNNBL1
reactome: R-HSA-72163;
pdb: 4CB8;4CB9;4CBA;4HM9;4HNM;4MFU;4MFV;
length: 563
go: ENSG00000132792;
snps: rs4811236
name:
Beta-catenin-like protein 1 (Nuclear-associated protein) (NAP) (Testis development protein NYD-SP19)

sequence:

opentargets:
cytoplasm [GO:0005737]; membrane [GO:0016020]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; Prp19 complex [GO:0000974]; spliceosomal complex [GO:0005681]; enzyme binding [GO:0019899]; apoptotic process [GO:0006915]; mRNA splicing, via spliceosome [GO:0000398]; positive regulation of apoptotic process [GO:0043065]; somatic diversification of immunoglobulins [GO:0016445]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=Q8WYA6-1; Sequence=Displayed; Name=2; Synonyms=NYD-SP19; IsoId=Q8WYA6-2; Sequence=VSP_004058, VSP_004059; Name=3; IsoId=Q8WYA6-3; Sequence=VSP_015182; Note=Gene prediction based on EST data.; Name=4; IsoId=Q8WYA6-4; Sequence=VSP_055261; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Isoform 1: Nucleus.; SUBCELLULAR LOCATION: Isoform 2: Cytoplasm {ECO:0000305}.


uniprotID: Q99967
geneSymbol: CITED2
reactome: R-HSA-1234158;R-HSA-8866906;R-HSA-8866907;
pdb: 1P4Q;1R8U;
name: Cbp/p300-interacting transactivator 2 (MSG-related protein 1) (MRG-1) (P35srj)
length: 270
go: ENSG00000164442;
sequence:

opentargets:
cytoplasm [GO:0005737]; nuclear chromatin [GO:0000790]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; protein-containing complex [GO:0032991]; chromatin binding [GO:0003682]; DNA-binding transcription factor activity [GO:0003700]; histone acetyltransferase binding [GO:0035035]; LBD domain binding [GO:0050693]; protein domain specific binding [GO:0019904]; transcription coactivator activity [GO:0003713]; transcription corepressor activity [GO:0003714]; adrenal cortex formation [GO:0035802]; cell differentiation [GO:0030154]; cell proliferation [GO:0008283]; determination of left/right symmetry [GO:0007368]; embryonic heart tube left/right pattern formation [GO:0060971]; heart development [GO:0007507]; left/right axis specification [GO:0070986]; liver development [GO:0001889]; negative regulation of apoptotic process [GO:0043066]; negative regulation of cell migration [GO:0030336]; negative regulation of gene expression [GO:0010629]; 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]; nodal signaling pathway involved in determination of lateral mesoderm left/right asymmetry [GO:1900164]; outflow tract morphogenesis [GO:0003151]; positive regulation of cell cycle [GO:0045787]; positive regulation of cell-cell adhesion [GO:0022409]; positive regulation of gene expression [GO:0010628]; positive regulation of male gonad development [GO:2000020]; positive regulation of peroxisome proliferator activated receptor signaling pathway [GO:0035360]; positive regulation of transcription by RNA polymerase II [GO:0045944]; positive regulation of transcription, DNA-templated [GO:0045893]; positive regulation of transforming growth factor beta receptor signaling pathway [GO:0030511]; regulation of animal organ formation [GO:0003156]; regulation of transcription by RNA polymerase II [GO:0006357]; response to estrogen [GO:0043627]; response to fluid shear stress [GO:0034405]; response to hypoxia [GO:0001666]; sex determination [GO:0007530]; spleen development [GO:0048536]; ventricular septum morphogenesis [GO:0060412]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q99967-1; Sequence=Displayed; Name=2; IsoId=Q99967-2; Sequence=VSP_001089; 

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:12586840, ECO:0000269|PubMed:8901575, ECO:0000269|PubMed:9887100}. Note=Colocalizes with EP300 in dot-like structures.


uniprotID: Q96RK1
geneSymbol: CITED4
reactome: R-HSA-8866907;
name: Cbp/p300-interacting transactivator 4 (MSG1-related protein 2) (MRG-2)
length: 184
go: ENSG00000179862;
sequence:
MADHLMLAEGYRLVQRPPSAAAAHGPHALRTLPPYAGPGLDSGLRPRGAPLGPPPPRQPGALAYGAFGPPSSFQPFPAVPPPAAGIAHLQPVATPYPGRAAAPPNAPGGPPGPQPAPSAAAPPPPAHALGGMDAELIDEEALTSLELELGLHRVRELPELFLGQSEFDCFSDLGSAPPAGSVSC

opentargets:
cytoplasm [GO:0005737]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; transcription coactivator activity [GO:0003713]; positive regulation of transcription by RNA polymerase II [GO:0045944]; regulation of transcription by RNA polymerase II [GO:0006357]; response to estrogen [GO:0043627]

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:11744733, ECO:0000269|PubMed:15342390}. Cytoplasm {ECO:0000269|PubMed:11744733, ECO:0000269|PubMed:15342390}.


uniprotID: Q2NKJ3
geneSymbol: CTC1
pdb: 5W2L;
length: 1217
go: ENSG00000178971;
name:
CST complex subunit CTC1 (Conserved telomere maintenance component 1) (HBV DNAPTP1-transactivated protein B)

sequence:

opentargets:
CST complex [GO:1990879]; nuclear chromosome, telomeric region [GO:0000784]; nucleus [GO:0005634]; G-rich strand telomeric DNA binding [GO:0098505]; single-stranded DNA binding [GO:0003697]; telomeric DNA binding [GO:0042162]; bone marrow development [GO:0048539]; cellular response to DNA damage stimulus [GO:0006974]; hematopoietic stem cell proliferation [GO:0071425]; multicellular organism growth [GO:0035264]; negative regulation of telomere maintenance via telomerase [GO:0032211]; positive regulation of DNA replication [GO:0045740]; positive regulation of fibroblast proliferation [GO:0048146]; regulation of G2/M transition of mitotic cell cycle [GO:0010389]; replicative senescence [GO:0090399]; spleen development [GO:0048536]; telomere capping [GO:0016233]; telomere maintenance [GO:0000723]; telomere maintenance via telomere lengthening [GO:0010833]; thymus development [GO:0048538]

snps:
rs199473673 rs387907080 rs1320809462 rs199473676 rs3027238 rs373905859 rs369255297 rs199473678 rs202138550 rs3826543 rs199473681 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q2NKJ3-1; Sequence=Displayed; Name=2; IsoId=Q2NKJ3-2; Sequence=VSP_025351, VSP_025352, VSP_025353; 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.; 

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:19854130}. Chromosome, telomere {ECO:0000269|PubMed:19854130}. Note=A transmembrane region is predicted by sequence analysis tools (ESKW, MEMSAT and Phobius); however, given the telomeric localization of the protein, the relevance of the transmembrane region is unsure in vivo. {ECO:0000305}.


uniprotID: Q8NI51
geneSymbol: CTCFL
length: 663
go: ENSG00000124092;
snps: rs6070128 rs6025606 rs6092491 rs6070122
location: SUBCELLULAR LOCATION: Cytoplasm. Nucleus.
name:
Transcriptional repressor CTCFL (Brother of the regulator of imprinted sites) (CCCTC-binding factor) (CTCF paralog) (CTCF-like protein) (Cancer/testis antigen 27) (CT27) (Zinc finger protein CTCF-T)

sequence:

opentargets:
cytoplasm [GO:0005737]; nucleus [GO:0005634]; DNA binding [GO:0003677]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; histone binding [GO:0042393]; metal ion binding [GO:0046872]; proximal promoter DNA-binding transcription activator activity, RNA polymerase II-specific [GO:0001077]; RNA polymerase II proximal promoter sequence-specific DNA binding [GO:0000978]; sequence-specific DNA binding [GO:0043565]; transcription regulatory region DNA binding [GO:0044212]; cell cycle [GO:0007049]; DNA methylation involved in gamete generation [GO:0043046]; histone methylation [GO:0016571]; positive regulation of gene expression [GO:0010628]; positive regulation of transcription by RNA polymerase II [GO:0045944]; positive regulation of transcription, DNA-templated [GO:0045893]; regulation of gene expression by genetic imprinting [GO:0006349]; regulation of histone H3-K4 methylation [GO:0051569]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=11;  Name=1; IsoId=Q8NI51-1; Sequence=Displayed; Name=2; IsoId=Q8NI51-2; Sequence=VSP_045158; Name=3; IsoId=Q8NI51-3; Sequence=VSP_045160; Name=4; IsoId=Q8NI51-4; Sequence=VSP_045157, VSP_045159; Name=5; IsoId=Q8NI51-5; Sequence=VSP_045156, VSP_045159; Name=6; IsoId=Q8NI51-6; Sequence=VSP_045155, VSP_045160; Name=7; IsoId=Q8NI51-7; Sequence=VSP_047059; Name=8; IsoId=Q8NI51-8; Sequence=VSP_047058; Name=9; IsoId=Q8NI51-9; Sequence=VSP_047725, VSP_047726; Name=10; IsoId=Q8NI51-10; Sequence=VSP_045156, VSP_045160; Name=11; IsoId=Q8NI51-11; Sequence=VSP_045155, VSP_054899; 


uniprotID: P49711
geneSymbol: CTCF
reactome: R-HSA-5617472;
pdb: 1X6H;2CT1;5K5H;5K5I;5K5J;5K5L;5KKQ;5T00;5T0U;5UND;5YEF;5YEG;5YEH;5YEL;
name: Transcriptional repressor CTCF (11-zinc finger protein) (CCCTC-binding factor) (CTCFL paralog)
length: 727
go: ENSG00000102974;
snps: rs1243010179 rs879255516
sequence:

opentargets:
chromosome, centromeric region [GO:0000775]; condensed chromosome [GO:0000793]; nucleolus [GO:0005730]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; chromatin insulator sequence binding [GO:0043035]; 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]; proximal promoter DNA-binding transcription repressor activity, RNA polymerase II-specific [GO:0001078]; RNA polymerase II proximal promoter sequence-specific DNA binding [GO:0000978]; sequence-specific DNA binding [GO:0043565]; transcription corepressor activity [GO:0003714]; transcription regulatory region DNA binding [GO:0044212]; zinc ion binding [GO:0008270]; chromosome segregation [GO:0007059]; DNA methylation [GO:0006306]; maintenance of DNA methylation [GO:0010216]; negative regulation of cell proliferation [GO:0008285]; negative regulation of transcription by RNA polymerase II [GO:0000122]; negative regulation of transcription, DNA-templated [GO:0045892]; nucleosome positioning [GO:0016584]; positive regulation of gene expression [GO:0010628]; positive regulation of transcription by RNA polymerase II [GO:0045944]; positive regulation of transcription, DNA-templated [GO:0045893]; protein localization to chromosome, centromeric region [GO:0071459]; regulation of centromeric sister chromatid cohesion [GO:0070602]; regulation of gene expression by genetic imprinting [GO:0006349]; regulation of gene expression, epigenetic [GO:0040029]; regulation of histone acetylation [GO:0035065]; regulation of histone methylation [GO:0031060]; regulation of molecular function, epigenetic [GO:0040030]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P49711-1; Sequence=Displayed; Name=2; IsoId=P49711-2; Sequence=VSP_045350; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Nucleus, nucleoplasm {ECO:0000269|PubMed:28319062}. Chromosome {ECO:0000269|PubMed:26321640}. Chromosome, centromere {ECO:0000269|PubMed:26321640}. Note=May translocate to the nucleolus upon cell differentiation. Associates with both centromeres and chromosomal arms during metaphase. Associates with the H19 ICR in mitotic chromosomes. May be preferentially excluded from heterochromatin during interphase.


uniprotID: Q9Y5B0
geneSymbol: CTDP1
pdb: 1J2X;1ONV;2K7L;
length: 961
go: ENSG00000060069;
snps: rs4799078 rs2279103 rs557503 rs34967023
reactome:
R-HSA-112382;R-HSA-113418;R-HSA-167152;R-HSA-167158;R-HSA-167200;R-HSA-167238;R-HSA-167242;R-HSA-167243;R-HSA-167246;R-HSA-167287;R-HSA-167290;R-HSA-674695;R-HSA-6796648;R-HSA-75955;

name:
RNA polymerase II subunit A C-terminal domain phosphatase (EC 3.1.3.16) (TFIIF-associating CTD phosphatase)

sequence:

opentargets:
centrosome [GO:0005813]; cytoplasm [GO:0005737]; intracellular membrane-bounded organelle [GO:0043231]; midbody [GO:0030496]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; protein-containing complex [GO:0032991]; spindle [GO:0005819]; spindle midzone [GO:0051233]; spindle pole [GO:0000922]; phosphoprotein phosphatase activity [GO:0004721]; RNA polymerase II CTD heptapeptide repeat phosphatase activity [GO:0008420]; Tat protein binding [GO:0030957]; TFIIF-class transcription factor complex binding [GO:0001096]; cell division [GO:0051301]; dephosphorylation of RNA polymerase II C-terminal domain [GO:0070940]; exit from mitosis [GO:0010458]; negative regulation of cell growth involved in cardiac muscle cell development [GO:0061052]; positive regulation by host of viral transcription [GO:0043923]; protein dephosphorylation [GO:0006470]; transcription by RNA polymerase II [GO:0006366]; transcription elongation from RNA polymerase II promoter [GO:0006368]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9Y5B0-1; Sequence=Displayed; Name=4; IsoId=Q9Y5B0-4; Sequence=VSP_009865; 

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:22692537}. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome {ECO:0000269|PubMed:22692537}. Cytoplasm, cytoskeleton, spindle pole {ECO:0000269|PubMed:22692537}. Midbody {ECO:0000269|PubMed:22692537}. Note=Found at centrosomes in prometaphase, at spindle and spindle poles in metaphase and at spindle midzone and midbody in anaphase and telophase-G1 respectively.


uniprotID: Q9GZU7
geneSymbol: CTDSP1
pdb: 1T9Z;1TA0;2GHQ;2GHT;3L0B;3L0C;3L0Y;3PGL;4YGY;4YH1;6DU3;
length: 261
go: ENSG00000144579;
drug: DB04156;DB04272;
snps: rs2227249
name:
Carboxy-terminal domain RNA polymerase II polypeptide A small phosphatase 1 (EC 3.1.3.16) (Nuclear LIM interactor-interacting factor 3) (NLI-IF) (NLI-interacting factor 3) (Small C-terminal domain phosphatase 1) (SCP1) (Small CTD phosphatase 1)

sequence:

opentargets:
extracellular exosome [GO:0070062]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; metal ion binding [GO:0046872]; phosphoprotein phosphatase activity [GO:0004721]; RNA polymerase II CTD heptapeptide repeat phosphatase activity [GO:0008420]; negative regulation of G1/S transition of mitotic cell cycle [GO:2000134]; negative regulation of neuron differentiation [GO:0045665]; negative regulation of protein phosphorylation [GO:0001933]; protein dephosphorylation [GO:0006470]; regulation of transcription by RNA polymerase II [GO:0006357]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q9GZU7-1; Sequence=Displayed; Name=2; IsoId=Q9GZU7-2; Sequence=VSP_045866; Name=3; IsoId=Q9GZU7-3; Sequence=VSP_045865, VSP_045866; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:12721286}. Note=Colocalizes with RNA polymerase II.


uniprotID: O14595
geneSymbol: CTDSP2
reactome: R-HSA-381038;
pdb: 2Q5E;
length: 271
go: ENSG00000175215;
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000250}.
name:
Carboxy-terminal domain RNA polymerase II polypeptide A small phosphatase 2 (EC 3.1.3.16) (Nuclear LIM interactor-interacting factor 2) (NLI-interacting factor 2) (Protein OS-4) (Small C-terminal domain phosphatase 2) (Small CTD phosphatase 2) (SCP2)

sequence:

opentargets:
nucleoplasm [GO:0005654]; metal ion binding [GO:0046872]; phosphoprotein phosphatase activity [GO:0004721]; RNA polymerase II CTD heptapeptide repeat phosphatase activity [GO:0008420]; IRE1-mediated unfolded protein response [GO:0036498]; negative regulation of G1/S transition of mitotic cell cycle [GO:2000134]; negative regulation of protein phosphorylation [GO:0001933]; protein dephosphorylation [GO:0006470]


uniprotID: O15194
geneSymbol: CTDSPL
pdb: 2HHL;
length: 276
go: ENSG00000144677;
snps: rs1341429725
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000250}.
name:
CTD small phosphatase-like protein (CTDSP-like) (EC 3.1.3.16) (Carboxy-terminal domain RNA polymerase II polypeptide A small phosphatase 3) (NIF-like protein) (Nuclear LIM interactor-interacting factor 1) (NLI-interacting factor 1) (Protein YA22) (hYA22) (RBSP3) (Small C-terminal domain phosphatase 3) (SCP3) (Small CTD phosphatase 3)

sequence:

opentargets:
extracellular exosome [GO:0070062]; nucleus [GO:0005634]; metal ion binding [GO:0046872]; phosphoprotein phosphatase activity [GO:0004721]; RNA polymerase II CTD heptapeptide repeat phosphatase activity [GO:0008420]; negative regulation of G1/S transition of mitotic cell cycle [GO:2000134]; negative regulation of protein phosphorylation [GO:0001933]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; Synonyms=HYA22B; IsoId=O15194-1; Sequence=Displayed; Name=2; Synonyms=HYA22A; IsoId=O15194-2; Sequence=VSP_011541; 


uniprotID: Q8WVB6
geneSymbol: CHTF18
name: Chromosome transmission fidelity protein 18 homolog (hCTF18) (CHL12)
length: 975
go: ENSG00000127586;
snps: rs2277902 rs2277901 rs3765263 rs34595992 rs2294451
sequence:

opentargets:
Ctf18 RFC-like complex [GO:0031390]; cytosol [GO:0005829]; membrane [GO:0016020]; nucleoplasm [GO:0005654]; ATP binding [GO:0005524]; DNA binding [GO:0003677]; cell cycle [GO:0007049]; DNA replication [GO:0006260]; positive regulation of DNA-directed DNA polymerase activity [GO:1900264]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q8WVB6-1; Sequence=Displayed; Name=2; IsoId=Q8WVB6-2; Sequence=VSP_034180; Name=3; IsoId=Q8WVB6-3; Sequence=VSP_034179; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:12766176}. Note=Associates with chromatin during S phase.


uniprotID: Q16619
geneSymbol: CTF1
reactome: R-HSA-6788467;
name: Cardiotrophin-1 (CT-1)
length: 201
go: ENSG00000150281;
snps: rs2234933
location: SUBCELLULAR LOCATION: Secreted.
sequence:

opentargets:
extracellular region [GO:0005576]; extracellular space [GO:0005615]; cytokine activity [GO:0005125]; leukemia inhibitory factor receptor binding [GO:0005146]; cell proliferation [GO:0008283]; cell surface receptor signaling pathway [GO:0007166]; cell-cell signaling [GO:0007267]; cytokine-mediated signaling pathway [GO:0019221]; leukemia inhibitory factor signaling pathway [GO:0048861]; muscle organ development [GO:0007517]; nervous system development [GO:0007399]; neuron development [GO:0048666]; positive regulation of cell proliferation [GO:0008284]; positive regulation of tyrosine phosphorylation of STAT protein [GO:0042531]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q16619-1; Sequence=Displayed; Name=2; IsoId=Q16619-2; Sequence=VSP_042725; Note=No experimental confirmation available.; 


uniprotID: P0CG12
geneSymbol: CHTF8
length: 524
go: ENSG00000168802;
opentargets: extracellular exosome [GO:0070062]; nucleoplasm [GO:0005654]
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:12477976}.
name:
Chromosome transmission fidelity protein 8 homolog isoform 2 (Decreased expression in renal and prostate cancer protein)

sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=2; Synonyms=DERPC; IsoId=P0CG12-1; Sequence=Displayed; Name=1; IsoId=P0CG13-1; Sequence=External; 


uniprotID: P0CG13
geneSymbol: CHTF8
name: Chromosome transmission fidelity protein 8 homolog (hCTF8)
length: 121
go: ENSG00000168802;
sequence:
MVQIVISSARAGGLAEWVLMELQGEIEARYSTGLAGNLLGDLHYTTEGIPVLIVGHHILYGKIIHLEKPFAVLVKHTPGDQDCDELGRETGTRYLVTALIKDKILFKTRPKPIITSVPKKV

opentargets:
Ctf18 RFC-like complex [GO:0031390]; nucleus [GO:0005634]; DNA binding [GO:0003677]; DNA replication [GO:0006260]; mitotic sister chromatid cohesion [GO:0007064]; positive regulation of DNA-directed DNA polymerase activity [GO:1900264]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P0CG13-1; Sequence=Displayed; Name=2; Synonyms=DERPC; IsoId=P0CG12-1; Sequence=External; 

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:12766176}. Note=Associates with chromatin during S phase.


uniprotID: P78358
geneSymbol: CTAG1A; CTAG1B
pdb: 1S9W;2BNQ;2BNR;2F53;2F54;2P5E;2P5W;2PYE;3GJF;3HAE;3KLA;6AT5;6AVF;6AVG;
length: 180
go: ENSG00000184033;
opentargets: cytoplasm [GO:0005737]
location: SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:12065688}.
name:
Cancer/testis antigen 1 (Autoimmunogenic cancer/testis antigen NY-ESO-1) (Cancer/testis antigen 6.1) (CT6.1) (L antigen family member 2) (LAGE-2)

sequence:
MQAEGRGTGGSTGDADGPGGPGIPDGPGGNAGGPGEAGATGGRGPRGAGAARASGPGGGAPRGPHGGAASGLNGCCRCGARGPESRLLEFYLAMPFATPMEAELARRSLAQDAPPLPVPGVLLKEFTVSGNILTIRLTAADHRQLQLSISSCLQQLSLLMWITQCFLPVFLAQPPSGQRR

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P78358-1; Sequence=Displayed; Name=2; IsoId=P78358-2; Sequence=VSP_028548; 


uniprotID: Q9HC47
geneSymbol: CTAGE1
sequence: MFVIISLHNCVVISFVLFLFGGNNFIQNFYLPQNYIDQFLLTSFPTFTSVGVLIVLVLCSAFLLLWQGEGVNLR
length: 74
go: ENSG00000212710;
opentargets: integral component of membrane [GO:0016021]
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Multi-pass membrane protein {ECO:0000305}.
name:
Cutaneous T-cell lymphoma-associated antigen 1 (Protein cTAGE-1) (Cancer/testis antigen 21.1) (CT21.1)

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Comment=Additional isoforms (cTAGE-1B, cTAGE-1C and cTAGE-2s) exist.; Name=1; Synonyms=cTAGE-1; IsoId=Q9HC47-1; Sequence=Displayed; Name=2; Synonyms=cTAGE-2; IsoId=Q96RT6-1; Sequence=External; 


uniprotID: Q96RT6
geneSymbol: CTAGE1
name: cTAGE family member 2 (Protein cTAGE-2) (Cancer/testis antigen 21.2) (CT21.2)
length: 745
go: ENSG00000212710;
snps: rs9946136
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Single-pass membrane protein {ECO:0000305}.
sequence:

opentargets:
endoplasmic reticulum exit site [GO:0070971]; endoplasmic reticulum membrane [GO:0005789]; integral component of membrane [GO:0016021]; lipoprotein transporter activity [GO:0042954]; cargo loading into vesicle [GO:0035459]; ER to Golgi vesicle-mediated transport [GO:0006888]; protein secretion [GO:0009306]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Comment=Additional isoforms (cTAGE-1B, cTAGE-1C and cTAGE-2s) exist.; Name=2; Synonyms=cTAGE-2; IsoId=Q96RT6-1; Sequence=Displayed; Name=1; Synonyms=cTAGE-1; IsoId=Q9HC47-1; Sequence=External; 


uniprotID: Q8IX95
geneSymbol: CTAGE3P
name: Putative cTAGE family member 3 (Protein cTAGE-3)
length: 158
sequence:
MTFKGFQMNEEKLEIGIQDASSENCQLQESQKQLLQEAEVWKEQVSELNKQKITFEDSKVHAEQVLNDKENHIETLTERLLKIKDQAAVLEEDITDDGNLELEMNSELKDGAYLDNPPKGALKKLIHAAKLNASLTTLEGERNQFIFSYLKLIKPGRA


uniprotID: Q8IX94
geneSymbol: CTAGE4
name: cTAGE family member 4 (Protein cTAGE-4)
length: 777
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Single-pass membrane protein {ECO:0000305}.
sequence:

opentargets:
endoplasmic reticulum exit site [GO:0070971]; endoplasmic reticulum membrane [GO:0005789]; integral component of membrane [GO:0016021]; lipoprotein transporter activity [GO:0042954]; cargo loading into vesicle [GO:0035459]; ER to Golgi vesicle-mediated transport [GO:0006888]; protein secretion [GO:0009306]


uniprotID: O15320
geneSymbol: CTAGE5
reactome: R-HSA-5694530;
length: 804
go: ENSG00000150527;
snps: rs7140561 rs17855895 rs17855896 rs10162564 rs1950952 rs17109109 rs1140952 rs1060878
name:
Endoplasmic reticulum export factor CTAGE5 (CTAGE family member 5 ER export factor) (Protein cTAGE-5) (Meningioma-expressed antigen 6/11)

sequence:

opentargets:
endoplasmic reticulum exit site [GO:0070971]; endoplasmic reticulum membrane [GO:0005789]; integral component of membrane [GO:0016021]; membrane [GO:0016020]; enzyme activator activity [GO:0008047]; lipoprotein transporter activity [GO:0042954]; cargo loading into vesicle [GO:0035459]; ER to Golgi vesicle-mediated transport [GO:0006888]; protein exit from endoplasmic reticulum [GO:0032527]; protein localization to endoplasmic reticulum exit site [GO:0070973]; protein secretion [GO:0009306]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=10;  Name=MEA6; IsoId=O15320-1; Sequence=Displayed; Name=MEA11; IsoId=O15320-2; Sequence=VSP_004322; Note=No experimental confirmation available.; Name=5A; IsoId=O15320-3; Sequence=VSP_012545; Name=5B; IsoId=O15320-4; Sequence=VSP_012546, VSP_012547; Name=6; IsoId=O15320-5; Sequence=VSP_035962; Name=7; IsoId=O15320-6; Sequence=VSP_035961, VSP_035962; Name=8; IsoId=O15320-7; Sequence=VSP_012545, VSP_035963; Name=9; IsoId=O15320-8; Sequence=VSP_035961; Name=10; IsoId=O15320-9; Sequence=VSP_047234, VSP_047235, VSP_047236, VSP_047237; Name=11; IsoId=O15320-10; Sequence=VSP_047234; Note=Gene prediction based on EST data.; 

location:
SUBCELLULAR LOCATION: Endoplasmic reticulum membrane {ECO:0000269|PubMed:21525241}; Single-pass type I membrane protein {ECO:0000255}. Note=Localizes to endoplasmic reticulum exit sites (ERES), also known as transitional endoplasmic reticulum (tER). {ECO:0000269|PubMed:21525241, ECO:0000269|PubMed:25202031, ECO:0000269|PubMed:28442536}.


uniprotID: Q86UF2
geneSymbol: CTAGE6
name: cTAGE family member 6 (Protein cTAGE-6)
length: 777
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Single-pass membrane protein {ECO:0000305}.
sequence:

opentargets:
endoplasmic reticulum exit site [GO:0070971]; endoplasmic reticulum membrane [GO:0005789]; integral component of membrane [GO:0016021]; lipoprotein transporter activity [GO:0042954]; cargo loading into vesicle [GO:0035459]; ER to Golgi vesicle-mediated transport [GO:0006888]; protein secretion [GO:0009306]


uniprotID: P0CG41
geneSymbol: CTAGE8
name: cTAGE family member 8 (Protein cTAGE-8)
length: 777
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Single-pass membrane protein {ECO:0000305}.
sequence:


uniprotID: A4FU28
geneSymbol: CTAGE9
name: cTAGE family member 9 (Protein cTAGE-9)
length: 777
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Single-pass membrane protein {ECO:0000305}.
sequence:


uniprotID: A4D2H0
geneSymbol: CTAGE15
name: cTAGE family member 15 (Protein cTAGE-15)
length: 777
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Single-pass membrane protein {ECO:0000305}.
sequence:


uniprotID: P29279
geneSymbol: CTGF
reactome: R-HSA-2032785;R-HSA-8951671;
length: 349
go: ENSG00000118523;
snps: rs7451102
name:
Connective tissue growth factor (CCN family member 2) (Hypertrophic chondrocyte-specific protein 24) (Insulin-like growth factor-binding protein 8) (IBP-8) (IGF-binding protein 8) (IGFBP-8)

sequence:

opentargets:
cell cortex [GO:0005938]; cis-Golgi network [GO:0005801]; cytosol [GO:0005829]; extracellular matrix [GO:0031012]; extracellular region [GO:0005576]; extracellular space [GO:0005615]; perinuclear region of cytoplasm [GO:0048471]; plasma membrane [GO:0005886]; fibronectin binding [GO:0001968]; growth factor activity [GO:0008083]; heparin binding [GO:0008201]; insulin-like growth factor binding [GO:0005520]; integrin binding [GO:0005178]; protein C-terminus binding [GO:0008022]; aging [GO:0007568]; angiogenesis [GO:0001525]; cartilage condensation [GO:0001502]; cell adhesion [GO:0007155]; cell differentiation [GO:0030154]; cell migration [GO:0016477]; cell-matrix adhesion [GO:0007160]; chondrocyte proliferation [GO:0035988]; cytosolic calcium ion transport [GO:0060401]; DNA biosynthetic process [GO:0071897]; epidermis development [GO:0008544]; extracellular matrix constituent secretion [GO:0070278]; fibroblast growth factor receptor signaling pathway [GO:0008543]; integrin-mediated signaling pathway [GO:0007229]; intracellular signal transduction [GO:0035556]; lung development [GO:0030324]; negative regulation of cell death [GO:0060548]; negative regulation of gene expression [GO:0010629]; ossification [GO:0001503]; positive regulation of cardiac muscle contraction [GO:0060452]; positive regulation of cell activation [GO:0050867]; positive regulation of cell differentiation [GO:0045597]; positive regulation of cell proliferation [GO:0008284]; positive regulation of collagen biosynthetic process [GO:0032967]; positive regulation of cysteine-type endopeptidase activity involved in apoptotic process [GO:0043280]; positive regulation of ERK1 and ERK2 cascade [GO:0070374]; positive regulation of G0 to G1 transition [GO:0070318]; positive regulation of gene expression [GO:0010628]; positive regulation of JNK cascade [GO:0046330]; positive regulation of stress fiber assembly [GO:0051496]; reactive oxygen species metabolic process [GO:0072593]; regulation of cell growth [GO:0001558]; regulation of chondrocyte differentiation [GO:0032330]; response to amino acid [GO:0043200]; response to anoxia [GO:0034059]; response to estradiol [GO:0032355]; response to fatty acid [GO:0070542]; response to glucose [GO:0009749]; response to mineralocorticoid [GO:0051385]; response to peptide hormone [GO:0043434]; response to wounding [GO:0009611]; tissue homeostasis [GO:0001894]; transcription initiation from RNA polymerase II promoter [GO:0006367]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; Synonyms=Long; IsoId=P29279-1; Sequence=Displayed; Name=2; Synonyms=Short; IsoId=P29279-2; Sequence=VSP_002460; Note=No experimental confirmation available.; 

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


uniprotID: Q96CG8
geneSymbol: CTHRC1
name: Collagen triple helix repeat-containing protein 1 (Protein NMTC1)
length: 243
go: ENSG00000164932;
snps: rs387907029
location: SUBCELLULAR LOCATION: Secreted, extracellular space, extracellular matrix {ECO:0000250}.
sequence:

opentargets:
collagen trimer [GO:0005581]; collagen-containing extracellular matrix [GO:0062023]; cytoplasm [GO:0005737]; extracellular region [GO:0005576]; extracellular space [GO:0005615]; extracellular matrix structural constituent [GO:0005201]; frizzled binding [GO:0005109]; Wnt-protein binding [GO:0017147]; cell migration [GO:0016477]; cochlea morphogenesis [GO:0090103]; establishment of planar polarity involved in neural tube closure [GO:0090177]; inner ear receptor cell stereocilium organization [GO:0060122]; negative regulation of canonical Wnt signaling pathway [GO:0090090]; ossification involved in bone remodeling [GO:0043932]; positive regulation of osteoblast differentiation [GO:0045669]; positive regulation of osteoblast proliferation [GO:0033690]; positive regulation of protein binding [GO:0032092]; Wnt signaling pathway, planar cell polarity pathway [GO:0060071]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q96CG8-1; Sequence=Displayed; Name=2; IsoId=Q96CG8-2; Sequence=VSP_013622, VSP_013623; Note=No experimental confirmation available.; Name=3; IsoId=Q96CG8-3; Sequence=VSP_013622; Note=Gene prediction based on EST data.; 


uniprotID: O43310
geneSymbol: CTIF
name: CBP80/20-dependent translation initiation factor
length: 598
go: ENSG00000134030;
snps: rs2277712 rs751006365
location: SUBCELLULAR LOCATION: Cytoplasm, perinuclear region {ECO:0000269|PubMed:19648179}.
sequence:

opentargets:
cytosol [GO:0005829]; perinuclear region of cytoplasm [GO:0048471]; RNA binding [GO:0003723]; translation activator activity [GO:0008494]; nuclear-transcribed mRNA catabolic process, nonsense-mediated decay [GO:0000184]; regulation of translational initiation [GO:0006446]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=O43310-1; Sequence=Displayed; Name=2; IsoId=O43310-2; Sequence=VSP_013774; Note=No experimental confirmation available.; 


uniprotID: Q99708
geneSymbol: RBBP8
pdb: 2L4Z;4D2H;
length: 897
go: ENSG00000101773;
snps: rs373804633 rs34678569 rs1804732
reactome:
R-HSA-5685938;R-HSA-5685939;R-HSA-5685942;R-HSA-5693554;R-HSA-5693568;R-HSA-5693579;R-HSA-5693607;R-HSA-5693616;R-HSA-6804756;R-HSA-69473;R-HSA-8953750;R-HSA-912446;

name:
DNA endonuclease RBBP8 (EC 3.1.-.-) (CtBP-interacting protein) (CtIP) (Retinoblastoma-binding protein 8) (RBBP-8) (Retinoblastoma-interacting protein and myosin-like) (RIM) (Sporulation in the absence of SPO11 protein 2 homolog) (SAE2)

sequence:

opentargets:
intracellular membrane-bounded organelle [GO:0043231]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; site of double-strand break [GO:0035861]; transcriptional repressor complex [GO:0017053]; damaged DNA binding [GO:0003684]; double-strand/single-strand DNA junction binding [GO:0000406]; double-stranded DNA binding [GO:0003690]; flap-structured DNA binding [GO:0070336]; identical protein binding [GO:0042802]; RNA polymerase II repressing transcription factor binding [GO:0001103]; single-stranded DNA binding [GO:0003697]; single-stranded DNA endodeoxyribonuclease activity [GO:0000014]; transcription corepressor activity [GO:0003714]; Y-form DNA binding [GO:0000403]; blastocyst hatching [GO:0001835]; cell division [GO:0051301]; DNA double-strand break processing [GO:0000729]; DNA double-strand break processing involved in repair via single-strand annealing [GO:0010792]; DNA repair [GO:0006281]; DNA replication [GO:0006260]; double-strand break repair via homologous recombination [GO:0000724]; G1/S transition of mitotic cell cycle [GO:0000082]; meiotic cell cycle [GO:0051321]; negative regulation of G0 to G1 transition [GO:0070317]; nucleotide-excision repair [GO:0006289]; regulation of transcription by RNA polymerase II [GO:0006357]; response to estradiol [GO:0032355]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q99708-1; Sequence=Displayed; Name=2; IsoId=Q99708-2; Sequence=VSP_043220; Name=3; IsoId=Q99708-3; Sequence=VSP_045247, VSP_045248; Note=No experimental confirmation available. {ECO:0000305}; 

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:10764811, ECO:0000269|PubMed:17965729, ECO:0000269|PubMed:23623683}. Chromosome {ECO:0000269|PubMed:10764811, ECO:0000269|PubMed:16818604, ECO:0000269|PubMed:29042561}. Note=Associates with sites of DNA damage in S/G2 phase (PubMed:10764811, PubMed:25349192). Ubiquitinated RBBP8 binds to chromatin following DNA damage (PubMed:16818604). {ECO:0000269|PubMed:10764811, ECO:0000269|PubMed:16818604, ECO:0000269|PubMed:25349192}.


uniprotID: Q8WWI5
geneSymbol: SLC44A1
reactome: R-HSA-1483191;R-HSA-425366;R-HSA-6798163;
name: Choline transporter-like protein 1 (CDw92) (Solute carrier family 44 member 1) (CD antigen CD92)
length: 657
go: ENSG00000070214;
drug: DB00122;
snps: rs3199966
sequence:

opentargets:
extracellular exosome [GO:0070062]; integral component of membrane [GO:0016021]; membrane [GO:0016020]; mitochondrial outer membrane [GO:0005741]; mitochondrion [GO:0005739]; nucleoplasm [GO:0005654]; plasma membrane [GO:0005886]; choline transmembrane transporter activity [GO:0015220]; choline catabolic process [GO:0042426]; choline transport [GO:0015871]; phosphatidylcholine biosynthetic process [GO:0006656]; transmembrane transport [GO:0055085]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; Synonyms=A; IsoId=Q8WWI5-1; Sequence=Displayed; Name=2; Synonyms=B; IsoId=Q8WWI5-2; Sequence=VSP_015424, VSP_015425; Name=3; Synonyms=C; IsoId=Q8WWI5-3; Sequence=VSP_015426, VSP_015427; 

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:19357133}; Multi-pass membrane protein {ECO:0000269|PubMed:19357133}. Mitochondrion outer membrane {ECO:0000269|PubMed:19357133}; Multi-pass membrane protein {ECO:0000269|PubMed:19357133}.


uniprotID: Q8IWA5
geneSymbol: SLC44A2
reactome: R-HSA-1483191;R-HSA-425366;R-HSA-6798695;
name: Choline transporter-like protein 2 (Solute carrier family 44 member 2)
length: 706
go: ENSG00000129353;
drug: DB00122;
snps: rs2288904
location: SUBCELLULAR LOCATION: Membrane {ECO:0000250}; Multi-pass membrane protein {ECO:0000250}.
sequence:

opentargets:
extracellular exosome [GO:0070062]; integral component of membrane [GO:0016021]; lysosomal membrane [GO:0005765]; plasma membrane [GO:0005886]; specific granule membrane [GO:0035579]; choline transmembrane transporter activity [GO:0015220]; choline transport [GO:0015871]; neutrophil degranulation [GO:0043312]; phosphatidylcholine biosynthetic process [GO:0006656]; positive regulation of I-kappaB kinase/NF-kappaB signaling [GO:0043123]; transmembrane transport [GO:0055085]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative promoter usage, Alternative splicing; Named isoforms=3;  Name=1; Synonyms=CTL2a, CTL2P2A; IsoId=Q8IWA5-1; Sequence=Displayed; Name=2; Synonyms=CTL2b, CTL2P2B; IsoId=Q8IWA5-2; Sequence=VSP_015431; Name=3; Synonyms=CTL2P1; IsoId=Q8IWA5-3; Sequence=VSP_041792; Note=Produced by alternative promoter usage.; 


uniprotID: Q8N4M1
geneSymbol: SLC44A3
reactome: R-HSA-1483191;R-HSA-425366;
name: Choline transporter-like protein 3 (Solute carrier family 44 member 3)
length: 653
go: ENSG00000143036;
drug: DB00122;
snps: rs859098
location: SUBCELLULAR LOCATION: Membrane {ECO:0000250}; Multi-pass membrane protein {ECO:0000250}.
sequence:

opentargets:
integral component of membrane [GO:0016021]; plasma membrane [GO:0005886]; choline transmembrane transporter activity [GO:0015220]; phosphatidylcholine biosynthetic process [GO:0006656]; transmembrane transport [GO:0055085]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=6;  Name=1; IsoId=Q8N4M1-1; Sequence=Displayed; Name=2; IsoId=Q8N4M1-2; Sequence=VSP_036151; Name=3; IsoId=Q8N4M1-3; Sequence=VSP_036152; Name=4; IsoId=Q8N4M1-4; Sequence=VSP_036152, VSP_044713; Note=No experimental confirmation available.; Name=5; IsoId=Q8N4M1-5; Sequence=VSP_036151, VSP_044713, VSP_045974; Note=No experimental confirmation available.; Name=6; IsoId=Q8N4M1-6; Sequence=VSP_044713, VSP_045974; Note=No experimental confirmation available.; 


uniprotID: Q53GD3
geneSymbol: SLC44A4
reactome: R-HSA-1483191;R-HSA-425366;
length: 710
go: ENSG00000204385;
drug: DB00122;
snps: rs2075798 rs12661281 rs17856465 rs1135402753 rs2242665 rs644827 rs116706632 rs563426936 rs6915800
name:
Choline transporter-like protein 4 (Solute carrier family 44 member 4) (Thiamine pyrophosphate transporter 1) (hTPPT1)

sequence:

opentargets:
apical plasma membrane [GO:0016324]; extracellular exosome [GO:0070062]; integral component of membrane [GO:0016021]; plasma membrane [GO:0005886]; choline transmembrane transporter activity [GO:0015220]; thiamine pyrophosphate transmembrane transporter activity [GO:0090422]; acetylcholine biosynthetic process [GO:0008292]; acetylcholine secretion [GO:0061526]; choline transport [GO:0015871]; neuromast hair cell development [GO:0035675]; otolith formation [GO:0032475]; phosphatidylcholine biosynthetic process [GO:0006656]; positive regulation of cell growth [GO:0030307]; thiamine pyrophosphate transmembrane transport [GO:0030974]; transmembrane transport [GO:0055085]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=Q53GD3-1; Sequence=Displayed; Name=2; IsoId=Q53GD3-2; Sequence=VSP_030998; Note=No experimental confirmation available.; Name=3; IsoId=Q53GD3-3; Sequence=VSP_046236; Note=No experimental confirmation available.; Name=4; IsoId=Q53GD3-4; Sequence=VSP_046821; 

location:
SUBCELLULAR LOCATION: Membrane {ECO:0000269|PubMed:24379411, ECO:0000269|PubMed:26828122}; Multi-pass membrane protein {ECO:0000305|PubMed:24379411, ECO:0000305|PubMed:26828122}. Apical cell membrane {ECO:0000269|PubMed:24379411}.


uniprotID: Q8NCS7
geneSymbol: SLC44A5
reactome: R-HSA-1483191;R-HSA-425366;
name: Choline transporter-like protein 5 (Solute carrier family 44 member 5)
length: 719
go: ENSG00000137968;
location: SUBCELLULAR LOCATION: Membrane {ECO:0000250}; Multi-pass membrane protein {ECO:0000250}.
sequence:

opentargets:
integral component of membrane [GO:0016021]; plasma membrane [GO:0005886]; choline transmembrane transporter activity [GO:0015220]; phosphatidylcholine biosynthetic process [GO:0006656]; transmembrane transport [GO:0055085]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; Synonyms=A; IsoId=Q8NCS7-1; Sequence=Displayed; Note=No experimental confirmation available. {ECO:0000305}; Name=2; Synonyms=B; IsoId=Q8NCS7-4; Sequence=VSP_059803; Note=No experimental confirmation available. {ECO:0000305}; Name=3; IsoId=Q8NCS7-5; Sequence=VSP_059802, VSP_059803; Note=No experimental confirmation available. {ECO:0000305}; 


uniprotID: P16410
geneSymbol: CTLA4
reactome: R-HSA-389513;R-HSA-8877330;
pdb: 1AH1;1H6E;1I85;1I8L;2X44;3BX7;3OSK;5GGV;5TRU;5XJ3;
length: 223
go: ENSG00000163599;
drug: DB06186;
snps: rs231775 rs606231422
name:
Cytotoxic T-lymphocyte protein 4 (Cytotoxic T-lymphocyte-associated antigen 4) (CTLA-4) (CD antigen CD152)

sequence:

opentargets:
clathrin-coated endocytic vesicle [GO:0045334]; external side of plasma membrane [GO:0009897]; Golgi apparatus [GO:0005794]; integral component of plasma membrane [GO:0005887]; perinuclear region of cytoplasm [GO:0048471]; plasma membrane [GO:0005886]; protein complex involved in cell adhesion [GO:0098636]; adaptive immune response [GO:0002250]; B cell receptor signaling pathway [GO:0050853]; cellular response to DNA damage stimulus [GO:0006974]; immune response [GO:0006955]; negative regulation of B cell proliferation [GO:0030889]; negative regulation of regulatory T cell differentiation [GO:0045590]; positive regulation of apoptotic process [GO:0043065]; regulation of regulatory T cell differentiation [GO:0045589]; T cell costimulation [GO:0031295]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=5;  Name=1; IsoId=P16410-1; Sequence=Displayed; Name=2; Synonyms=ss-CTLA-4; IsoId=P16410-2; Sequence=VSP_041284; Name=3; IsoId=P16410-3; Sequence=VSP_041284, VSP_041287; Name=4; IsoId=P16410-4; Sequence=VSP_041285, VSP_041286, VSP_041287; Name=5; IsoId=P16410-5; Sequence=VSP_047238, VSP_047239; 

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:18468488, ECO:0000269|PubMed:28484017}; Single-pass type I membrane protein {ECO:0000269|PubMed:18468488, ECO:0000269|PubMed:28484017}. Note=Exists primarily an intracellular antigen whose surface expression is tightly regulated by restricted trafficking to the cell surface and rapid internalisation;.


uniprotID: P35221
geneSymbol: CTNNA1
reactome: R-HSA-375170;R-HSA-418990;R-HSA-5218920;R-HSA-5626467;
pdb: 1H6G;4EHP;4IGG;
name: Catenin alpha-1 (Alpha E-catenin) (Cadherin-associated protein) (Renal carcinoma antigen NY-REN-13)
length: 906
go: ENSG00000044115;
snps: rs781520852 rs28363394 rs28363406 rs869320697 rs869320696 rs755215402
sequence:

opentargets:
acrosomal vesicle [GO:0001669]; actin cytoskeleton [GO:0015629]; catenin complex [GO:0016342]; cell junction [GO:0030054]; cell-cell junction [GO:0005911]; cytosol [GO:0005829]; flotillin complex [GO:0016600]; focal adhesion [GO:0005925]; Golgi apparatus [GO:0005794]; intercalated disc [GO:0014704]; intracellular membrane-bounded organelle [GO:0043231]; lamellipodium [GO:0030027]; plasma membrane [GO:0005886]; zonula adherens [GO:0005915]; actin filament binding [GO:0051015]; beta-catenin binding [GO:0008013]; cadherin binding [GO:0045296]; gamma-catenin binding [GO:0045295]; identical protein binding [GO:0042802]; protein heterodimerization activity [GO:0046982]; RNA binding [GO:0003723]; structural molecule activity [GO:0005198]; vinculin binding [GO:0017166]; actin filament organization [GO:0007015]; adherens junction organization [GO:0034332]; aging [GO:0007568]; apical junction assembly [GO:0043297]; axon regeneration [GO:0031103]; cell adhesion [GO:0007155]; cellular protein localization [GO:0034613]; cellular response to indole-3-methanol [GO:0071681]; epithelial cell-cell adhesion [GO:0090136]; establishment or maintenance of cell polarity [GO:0007163]; gap junction assembly [GO:0016264]; male gonad development [GO:0008584]; negative regulation of cell motility [GO:2000146]; negative regulation of extrinsic apoptotic signaling pathway in absence of ligand [GO:2001240]; negative regulation of integrin-mediated signaling pathway [GO:2001045]; negative regulation of neuroblast proliferation [GO:0007406]; odontogenesis of dentin-containing tooth [GO:0042475]; ovarian follicle development [GO:0001541]; positive regulation of extrinsic apoptotic signaling pathway in absence of ligand [GO:2001241]; positive regulation of muscle cell differentiation [GO:0051149]; positive regulation of smoothened signaling pathway [GO:0045880]; protein heterooligomerization [GO:0051291]; response to estrogen [GO:0043627]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; Synonyms=CTNNA1a; IsoId=P35221-1; Sequence=Displayed; Name=2; IsoId=P35221-2; Sequence=VSP_017494; Name=3; Synonyms=CTNNA1b; IsoId=P35221-3; Sequence=VSP_047810; Note=Expressed at high levels in the nervous system. Lacks the beta-catenin interaction domain.; 

location:
SUBCELLULAR LOCATION: Isoform 1: Cytoplasm, cytoskeleton. Cell junction, adherens junction. Cell membrane; Peripheral membrane protein; Cytoplasmic side. Cell junction. Note=Found at cell-cell boundaries and probably at cell-matrix boundaries.; SUBCELLULAR LOCATION: Isoform 3: Cell membrane {ECO:0000269|PubMed:21708131}; Peripheral membrane protein {ECO:0000269|PubMed:21708131}; Cytoplasmic side {ECO:0000269|PubMed:21708131}.


uniprotID: P26232
geneSymbol: CTNNA2
reactome: R-HSA-375170;
name: Catenin alpha-2 (Alpha N-catenin) (Alpha-catenin-related protein)
length: 953
go: ENSG00000066032;
sequence:

opentargets:
actin cytoskeleton [GO:0015629]; adherens junction [GO:0005912]; axon [GO:0030424]; basolateral plasma membrane [GO:0016323]; cell-cell adherens junction [GO:0005913]; cytoplasm [GO:0005737]; cytosol [GO:0005829]; extrinsic component of postsynaptic membrane [GO:0098890]; extrinsic component of presynaptic membrane [GO:0098888]; hippocampal mossy fiber to CA3 synapse [GO:0098686]; lamellipodium [GO:0030027]; nucleus [GO:0005634]; parallel fiber to Purkinje cell synapse [GO:0098688]; postsynaptic density, intracellular component [GO:0099092]; presynaptic active zone cytoplasmic component [GO:0098831]; actin filament binding [GO:0051015]; cadherin binding [GO:0045296]; identical protein binding [GO:0042802]; structural constituent of cytoskeleton [GO:0005200]; axonogenesis [GO:0007409]; brain morphogenesis [GO:0048854]; cell-cell adhesion [GO:0098609]; dendrite morphogenesis [GO:0048813]; modification of postsynaptic actin cytoskeleton [GO:0098885]; positive regulation of muscle cell differentiation [GO:0051149]; prepulse inhibition [GO:0060134]; radial glia guided migration of Purkinje cell [GO:0021942]; regulation of synapse structural plasticity [GO:0051823]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=6;  Name=1; Synonyms=AlphaN-catenin II; IsoId=P26232-1; Sequence=Displayed; Name=2; Synonyms=AlphaN-catenin I; IsoId=P26232-2; Sequence=VSP_020337; Name=3; IsoId=P26232-3; Sequence=VSP_038009; Note=No experimental confirmation available.; Name=4; IsoId=P26232-4; Sequence=VSP_038008, VSP_020337; Name=5; IsoId=P26232-5; Sequence=VSP_038007, VSP_020337; Note=No experimental confirmation available.; Name=6; Synonyms=AlphaN-catenin III; IsoId=P26232-6; Sequence=VSP_038005, VSP_038006, VSP_020337; 

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000250|UniProtKB:Q61301}; Peripheral membrane protein {ECO:0000250|UniProtKB:Q61301}; Cytoplasmic side {ECO:0000250|UniProtKB:Q61301}. Cytoplasm {ECO:0000269|PubMed:16182284}. Cytoplasm, cytoskeleton {ECO:0000250|UniProtKB:Q61301}. Cell junction, adherens junction {ECO:0000250|UniProtKB:Q61301}. Cell projection, axon {ECO:0000250|UniProtKB:Q61301}. Nucleus {ECO:0000269|PubMed:16182284}.


uniprotID: Q9UI47
geneSymbol: CTNNA3
name: Catenin alpha-3 (Alpha T-catenin) (Cadherin-associated protein)
length: 895
go: ENSG00000183230;
snps: rs587777134 rs41274090 rs4548513
sequence:

opentargets:
cytoplasm [GO:0005737]; cytoskeleton [GO:0005856]; fascia adherens [GO:0005916]; lamellipodium [GO:0030027]; actin filament binding [GO:0051015]; beta-catenin binding [GO:0008013]; cadherin binding [GO:0045296]; bundle of His cell-Purkinje myocyte adhesion involved in cell communication [GO:0086073]; cell-cell adhesion [GO:0098609]; regulation of heart rate by cardiac conduction [GO:0086091]; regulation of ventricular cardiac muscle cell action potential [GO:0098911]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1 {ECO:0000269|PubMed:11590244}; IsoId=Q9UI47-1; Sequence=Displayed; Name=2 {ECO:0000305}; IsoId=Q9UI47-2; Sequence=VSP_051852, VSP_051853; Note=No experimental confirmation available. {ECO:0000305}; 

location:
SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton {ECO:0000305}. Note=Localizes to intercalated disks of cardiomyocytes and in peritubular myoid cells of testis, and colocalizes with CTNNA1 and CTNNA2. {ECO:0000269|PubMed:11590244}.


uniprotID: P35222
geneSymbol: CTNNB1
pdb: 1G3J;1JDH;1JPW;1LUJ;1P22;1QZ7;1T08;1TH1;2G57;2GL7;2Z6H;3DIW;3FQN;3FQR;3SL9;3SLA;3TX7;4DJS;
name: Catenin beta-1 (Beta-catenin)
length: 781
go: ENSG00000168036;
drug: DB03904;
reactome:
R-HSA-195253;R-HSA-196299;R-HSA-201681;R-HSA-201722;R-HSA-3134973;R-HSA-351906;R-HSA-375170;R-HSA-3769402;R-HSA-381771;R-HSA-4086398;R-HSA-418990;R-HSA-4411364;R-HSA-4641262;R-HSA-5218920;R-HSA-5339716;R-HSA-5358747;R-HSA-5358749;R-HSA-5358751;R-HSA-5358752;R-HSA-5626467;R-HSA-8876493;R-HSA-8951430;

sequence:

opentargets:
adherens junction [GO:0005912]; apical part of cell [GO:0045177]; basolateral plasma membrane [GO:0016323]; beta-catenin destruction complex [GO:0030877]; beta-catenin-TCF complex [GO:1990907]; beta-catenin-TCF7L2 complex [GO:0070369]; bicellular tight junction [GO:0005923]; catenin complex [GO:0016342]; cell cortex [GO:0005938]; cell junction [GO:0030054]; cell periphery [GO:0071944]; cell-cell adherens junction [GO:0005913]; cell-cell junction [GO:0005911]; centrosome [GO:0005813]; cytoplasm [GO:0005737]; cytosol [GO:0005829]; extracellular exosome [GO:0070062]; fascia adherens [GO:0005916]; flotillin complex [GO:0016600]; focal adhesion [GO:0005925]; intracellular [GO:0005622]; lamellipodium [GO:0030027]; lateral plasma membrane [GO:0016328]; membrane [GO:0016020]; microvillus membrane [GO:0031528]; nuclear euchromatin [GO:0005719]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; perinuclear region of cytoplasm [GO:0048471]; plasma membrane [GO:0005886]; postsynaptic density, intracellular component [GO:0099092]; postsynaptic membrane [GO:0045211]; presynaptic active zone cytoplasmic component [GO:0098831]; presynaptic membrane [GO:0042734]; protein-containing complex [GO:0032991]; protein-DNA complex [GO:0032993]; Schaffer collateral - CA1 synapse [GO:0098685]; Scrib-APC-beta-catenin complex [GO:0034750]; spindle pole [GO:0000922]; synapse [GO:0045202]; transcription factor complex [GO:0005667]; Wnt signalosome [GO:1990909]; Z disc [GO:0030018]; alpha-catenin binding [GO:0045294]; androgen receptor binding [GO:0050681]; cadherin binding [GO:0045296]; chromatin binding [GO:0003682]; disordered domain specific binding [GO:0097718]; DNA-binding transcription factor activity [GO:0003700]; enzyme binding [GO:0019899]; estrogen receptor binding [GO:0030331]; I-SMAD binding [GO:0070411]; ion channel binding [GO:0044325]; kinase binding [GO:0019900]; nuclear hormone receptor binding [GO:0035257]; protein C-terminus binding [GO:0008022]; protein heterodimerization activity [GO:0046982]; protein kinase binding [GO:0019901]; protein phosphatase binding [GO:0019903]; repressing transcription factor binding [GO:0070491]; RNA polymerase II activating transcription factor binding [GO:0001102]; RNA polymerase II transcription factor binding [GO:0001085]; SMAD binding [GO:0046332]; transcription coactivator activity [GO:0003713]; transcription factor binding [GO:0008134]; adherens junction assembly [GO:0034333]; androgen receptor signaling pathway [GO:0030521]; anterior/posterior axis specification [GO:0009948]; beta-catenin destruction complex disassembly [GO:1904886]; beta-catenin-TCF complex assembly [GO:1904837]; bone resorption [GO:0045453]; branching involved in blood vessel morphogenesis [GO:0001569]; branching involved in ureteric bud morphogenesis [GO:0001658]; canonical Wnt signaling pathway [GO:0060070]; canonical Wnt signaling pathway involved in midbrain dopaminergic neuron differentiation [GO:1904954]; canonical Wnt signaling pathway involved in negative regulation of apoptotic process [GO:0044336]; canonical Wnt signaling pathway involved in positive regulation of cardiac outflow tract cell proliferation [GO:0061324]; canonical Wnt signaling pathway involved in positive regulation of epithelial to mesenchymal transition [GO:0044334]; cell adhesion [GO:0007155]; cell fate specification [GO:0001708]; cell maturation [GO:0048469]; cell morphogenesis involved in differentiation [GO:0000904]; cell-cell adhesion [GO:0098609]; cell-matrix adhesion [GO:0007160]; cellular response to growth factor stimulus [GO:0071363]; cellular response to indole-3-methanol [GO:0071681]; central nervous system vasculogenesis [GO:0022009]; chemical synaptic transmission [GO:0007268]; chromatin-mediated maintenance of transcription [GO:0048096]; cranial ganglion development [GO:0061550]; cranial skeletal system development [GO:1904888]; dorsal root ganglion development [GO:1990791]; dorsal/ventral axis specification [GO:0009950]; ectoderm development [GO:0007398]; embryonic axis specification [GO:0000578]; embryonic brain development [GO:1990403]; embryonic digit morphogenesis [GO:0042733]; embryonic foregut morphogenesis [GO:0048617]; embryonic forelimb morphogenesis [GO:0035115]; embryonic heart tube development [GO:0035050]; embryonic hindlimb morphogenesis [GO:0035116]; embryonic skeletal limb joint morphogenesis [GO:0036023]; endodermal cell fate commitment [GO:0001711]; endothelial tube morphogenesis [GO:0061154]; entry of bacterium into host cell [GO:0035635]; epithelial cell differentiation involved in prostate gland development [GO:0060742]; epithelial to mesenchymal transition [GO:0001837]; epithelial tube branching involved in lung morphogenesis [GO:0060441]; fungiform papilla formation [GO:0061198]; gastrulation with mouth forming second [GO:0001702]; genitalia morphogenesis [GO:0035112]; glial cell fate determination [GO:0007403]; hair cell differentiation [GO:0035315]; hair follicle morphogenesis [GO:0031069]; hair follicle placode formation [GO:0060789]; hindbrain development [GO:0030902]; in utero embryonic development [GO:0001701]; layer formation in cerebral cortex [GO:0021819]; lens morphogenesis in camera-type eye [GO:0002089]; lung cell differentiation [GO:0060479]; lung induction [GO:0060492]; lung-associated mesenchyme development [GO:0060484]; male genitalia development [GO:0030539]; mesenchymal cell proliferation involved in lung development [GO:0060916]; metanephros morphogenesis [GO:0003338]; midbrain dopaminergic neuron differentiation [GO:1904948]; negative regulation of angiogenesis [GO:0016525]; negative regulation of apoptotic process [GO:0043066]; negative regulation of apoptotic signaling pathway [GO:2001234]; negative regulation of cell proliferation [GO:0008285]; negative regulation of chondrocyte differentiation [GO:0032331]; negative regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis [GO:0003340]; negative regulation of mitotic cell cycle, embryonic [GO:0045976]; negative regulation of oligodendrocyte differentiation [GO:0048715]; negative regulation of osteoclast differentiation [GO:0045671]; negative regulation of oxidative stress-induced neuron death [GO:1903204]; negative regulation of protein sumoylation [GO:0033234]; negative regulation of transcription by RNA polymerase II [GO:0000122]; negative regulation of transcription, DNA-templated [GO:0045892]; nephron tubule formation [GO:0072079]; neural plate development [GO:0001840]; neuron migration [GO:0001764]; neuron projection extension [GO:1990138]; odontogenesis of dentin-containing tooth [GO:0042475]; oocyte development [GO:0048599]; osteoclast differentiation [GO:0030316]; oviduct development [GO:0060066]; pancreas development [GO:0031016]; positive regulation of apoptotic process [GO:0043065]; positive regulation of chromatin-mediated maintenance of transcription [GO:1904501]; positive regulation of core promoter binding [GO:1904798]; positive regulation of determination of dorsal identity [GO:2000017]; positive regulation of DNA-binding transcription factor activity [GO:0051091]; positive regulation of DNA-templated transcription, initiation [GO:2000144]; positive regulation of endothelial cell differentiation [GO:0045603]; positive regulation of epithelial cell proliferation involved in prostate gland development [GO:0060769]; positive regulation of epithelial to mesenchymal transition [GO:0010718]; positive regulation of fibroblast growth factor receptor signaling pathway [GO:0045743]; positive regulation of heparan sulfate proteoglycan biosynthetic process [GO:0010909]; positive regulation of histone H3-K4 methylation [GO:0051571]; positive regulation of I-kappaB kinase/NF-kappaB signaling [GO:0043123]; positive regulation of MAPK cascade [GO:0043410]; positive regulation of mesenchymal cell proliferation [GO:0002053]; positive regulation of muscle cell differentiation [GO:0051149]; positive regulation of neuroblast proliferation [GO:0002052]; positive regulation of neuron apoptotic process [GO:0043525]; positive regulation of osteoblast differentiation [GO:0045669]; positive regulation of skeletal muscle tissue development [GO:0048643]; positive regulation of telomerase activity [GO:0051973]; positive regulation of telomere maintenance via telomerase [GO:0032212]; positive regulation of transcription by RNA polymerase II [GO:0045944]; positive regulation of transcription, DNA-templated [GO:0045893]; positive regulation of type I interferon production [GO:0032481]; protein localization to cell surface [GO:0034394]; proximal/distal pattern formation [GO:0009954]; regulation of angiogenesis [GO:0045765]; regulation of calcium ion import [GO:0090279]; regulation of canonical Wnt signaling pathway [GO:0060828]; regulation of centriole-centriole cohesion [GO:0030997]; regulation of centromeric sister chromatid cohesion [GO:0070602]; regulation of euchromatin binding [GO:1904793]; regulation of fibroblast proliferation [GO:0048145]; regulation of myelination [GO:0031641]; regulation of nephron tubule epithelial cell differentiation [GO:0072182]; regulation of neurogenesis [GO:0050767]; regulation of protein localization to cell surface [GO:2000008]; regulation of secondary heart field cardioblast proliferation [GO:0003266]; regulation of smooth muscle cell proliferation [GO:0048660]; regulation of T cell proliferation [GO:0042129]; regulation of timing of anagen [GO:0051884]; renal inner medulla development [GO:0072053]; renal outer medulla development [GO:0072054]; renal vesicle formation [GO:0072033]; response to drug [GO:0042493]; response to estradiol [GO:0032355]; smooth muscle cell differentiation [GO:0051145]; stem cell population maintenance [GO:0019827]; sympathetic ganglion development [GO:0061549]; synapse organization [GO:0050808]; synaptic vesicle clustering [GO:0097091]; synaptic vesicle transport [GO:0048489]; T cell differentiation in thymus [GO:0033077]; thymus development [GO:0048538]; trachea formation [GO:0060440]; viral process [GO:0016032]; Wnt signaling pathway [GO:0016055]; Wnt signaling pathway, calcium modulating pathway [GO:0007223]

snps:
rs1413975856 rs121913396 rs121913396 rs28931588 rs121913400 rs121913400 rs28931589 rs121913399 rs28931589 rs121913228 rs121913403 rs121913403 rs121913403 rs121913412 rs121913413 rs121913409 rs121913407 rs4135384 rs748653573 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:25183871}. Nucleus {ECO:0000269|PubMed:24342833, ECO:0000269|PubMed:25183871, ECO:0000269|PubMed:28829046, ECO:0000269|PubMed:29367600}. Cytoplasm, cytoskeleton {ECO:0000250|UniProtKB:B6V8E6}. Cell junction, adherens junction {ECO:0000250|UniProtKB:Q02248}. Cell junction {ECO:0000250|UniProtKB:B6V8E6}. Cell membrane {ECO:0000269|PubMed:24342833}. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome. Cytoplasm, cytoskeleton, spindle pole. Cell junction, synapse {ECO:0000250|UniProtKB:Q02248}. Cytoplasm, cytoskeleton, cilium basal body {ECO:0000250|UniProtKB:Q02248}. Note=Colocalized with RAPGEF2 and TJP1 at cell-cell contacts (By similarity). Cytoplasmic when it is unstabilized (high level of phosphorylation) or bound to CDH1. Translocates to the nucleus when it is stabilized (low level of phosphorylation). Interaction with GLIS2 and MUC1 promotes nuclear translocation. Interaction with EMD inhibits nuclear localization. The majority of beta-catenin is localized to the cell membrane. In interphase, colocalizes with CROCC between CEP250 puncta at the proximal end of centrioles, and this localization is dependent on CROCC and CEP250. In mitosis, when NEK2 activity increases, it localizes to centrosomes at spindle poles independent of CROCC. Colocalizes with CDK5 in the cell-cell contacts and plasma membrane of undifferentiated and differentiated neuroblastoma cells. Interaction with FAM53B promotes translocation to the nucleus (PubMed:25183871). {ECO:0000250|UniProtKB:B6V8E6, ECO:0000269|PubMed:25183871}.


uniprotID: O60716
geneSymbol: CTNND1
reactome: R-HSA-418990;R-HSA-5218920;R-HSA-8876493;
pdb: 3L6X;3L6Y;
name: Catenin delta-1 (Cadherin-associated Src substrate) (CAS) (p120 catenin) (p120(ctn)) (p120(cas))
length: 968
go: ENSG00000198561;
snps: rs11229133 rs11570194 rs11570199 rs11570222
sequence:

opentargets:
catenin complex [GO:0016342]; cell-cell adherens junction [GO:0005913]; cell-cell junction [GO:0005911]; cytoplasm [GO:0005737]; cytosol [GO:0005829]; dendritic spine [GO:0043197]; extracellular exosome [GO:0070062]; glutamatergic synapse [GO:0098978]; growth cone [GO:0030426]; hippocampal mossy fiber to CA3 synapse [GO:0098686]; lamellipodium [GO:0030027]; midbody [GO:0030496]; nucleus [GO:0005634]; plasma membrane [GO:0005886]; postsynaptic density, intracellular component [GO:0099092]; presynaptic active zone cytoplasmic component [GO:0098831]; Schaffer collateral - CA1 synapse [GO:0098685]; zonula adherens [GO:0005915]; cadherin binding [GO:0045296]; protein kinase binding [GO:0019901]; signaling receptor binding [GO:0005102]; adherens junction organization [GO:0034332]; brain development [GO:0007420]; cell adhesion [GO:0007155]; cell-cell adhesion [GO:0098609]; cell-cell junction assembly [GO:0007043]; entry of bacterium into host cell [GO:0035635]; negative regulation of canonical Wnt signaling pathway [GO:0090090]; regulation of postsynaptic membrane neurotransmitter receptor levels [GO:0099072]; Wnt signaling pathway [GO:0016055]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing, Alternative initiation; Named isoforms=32;  Comment=Isoforms result of a combination of four transcription start sites and three alternatively spliced exons(A, B and C).; Name=1ABC; IsoId=O60716-1; Sequence=Displayed; Name=1AB; IsoId=O60716-2; Sequence=VSP_006743; Note=Contains a nuclear localization signal (NLS) domain at positions 622-629. {ECO:0000250|UniProtKB:P30999}; Name=1AC; IsoId=O60716-3; Sequence=VSP_006745; Name=1BC; IsoId=O60716-4; Sequence=VSP_006744; Name=1A; IsoId=O60716-5; Sequence=VSP_006743, VSP_006745; Note=Contains a phosphothreonine at position 910 (Ref.21). Contains a nuclear localization signal (NLS) domain at positions 622-629 (By similarity). {ECO:0000244|PubMed:18669648, ECO:0000250|UniProtKB:P30999}; Name=1B; IsoId=O60716-6; Sequence=VSP_006743, VSP_006744; Note=Contains a nuclear localization signal (NLS) domain at positions 622-629. {ECO:0000250|UniProtKB:P30999}; Name=1C; IsoId=O60716-7; Sequence=VSP_006744, VSP_006745; Name=1; IsoId=O60716-8; Sequence=VSP_006743, VSP_006744, VSP_006745; Note=Contains a nuclear localization signal (NLS) domain at positions 622-629. {ECO:0000244|PubMed:18669648, ECO:0000250|UniProtKB:P30999}; Name=2ABC; IsoId=O60716-9; Sequence=VSP_006740; Name=2AB; IsoId=O60716-10; Sequence=VSP_006740, VSP_006743; Note=Contains a nuclear localization signal (NLS) domain at positions 568-575. {ECO:0000250|UniProtKB:P30999}; Name=2AC; IsoId=O60716-11; Sequence=VSP_006740, VSP_006745; Name=2BC; IsoId=O60716-12; Sequence=VSP_006740, VSP_006744; Name=2A; IsoId=O60716-13; Sequence=VSP_006740, VSP_006743, VSP_006745; Note=Contains a phosphothreonine at position 856 (Ref.21). Contains a nuclear localization signal (NLS) domain at positions 622-629. {ECO:0000244|PubMed:18669648, ECO:0000250|UniProtKB:P30999}; Name=2B; IsoId=O60716-14; Sequence=VSP_006740, VSP_006743, VSP_006744; Note=Contains a nuclear localization signal (NLS) domain at positions 622-629. {ECO:0000250|UniProtKB:P30999}; Name=2C; IsoId=O60716-15; Sequence=VSP_006740, VSP_006744, VSP_006745; Name=2; IsoId=O60716-16; Sequence=VSP_006740, VSP_006743, VSP_006744, VSP_006745; Note=Contains a nuclear localization signal (NLS) domain at positions 622-629. {ECO:0000244|PubMed:18669648, ECO:0000250|UniProtKB:P30999}; Name=3ABC; IsoId=O60716-17; Sequence=VSP_006741; Name=3AB; IsoId=O60716-18; Sequence=VSP_006741, VSP_006743; Note=Contains a nuclear localization signal (NLS) domain at positions 521-528. {ECO:0000250|UniProtKB:P30999}; Name=3AC; IsoId=O60716-19; Sequence=VSP_006741, VSP_006745; Name=3BC; IsoId=O60716-20; Sequence=VSP_006741, VSP_006744; Name=3A; IsoId=O60716-21; Sequence=VSP_006741, VSP_006743, VSP_006745; Note=Contains a phosphothreonine at position 809 (Ref.21). Contains a nuclear localization signal (NLS) domain at positions 521-528. {ECO:0000244|PubMed:18669648, ECO:0000250|UniProtKB:P30999}; Name=3B; IsoId=O60716-22; Sequence=VSP_006741, VSP_006743, VSP_006744; Note=Contains a nuclear localization signal (NLS) domain at positions 521-528. {ECO:0000250|UniProtKB:P30999}; Name=3C; IsoId=O60716-23; Sequence=VSP_006741, VSP_006744, VSP_006745; Name=3; IsoId=O60716-24; Sequence=VSP_006741, VSP_006743, VSP_006744, VSP_006745; Note=Contains a phosphothreonine at position 788 (Ref.21). Contains a nuclear localization signal (NLS) domain at positions 521-528 (By similarity). {ECO:0000244|PubMed:18669648, ECO:0000250|UniProtKB:P30999}; Name=4ABC; IsoId=O60716-25; Sequence=VSP_006742; Name=4AB; IsoId=O60716-26; Sequence=VSP_006742, VSP_006743; Note=Contains a nuclear localization signal (NLS) domain at positions 299-306 (By similarity). {ECO:0000250|UniProtKB:P30999}; Name=4AC; IsoId=O60716-27; Sequence=VSP_006742, VSP_006745; Name=4BC; IsoId=O60716-28; Sequence=VSP_006742, VSP_006744; Name=4A; IsoId=O60716-29; Sequence=VSP_006742, VSP_006743, VSP_006745; Note=Contains a nuclear localization signal (NLS) domain at positions 299-306 (By similarity). {ECO:0000244|PubMed:18669648, ECO:0000250|UniProtKB:P30999}; Name=4B; IsoId=O60716-30; Sequence=VSP_006742, VSP_006743, VSP_006744; Note=Contains a nuclear localization signal (NLS) domain at positions 299-306 (By similarity). {ECO:0000250|UniProtKB:P30999}; Name=4C; IsoId=O60716-31; Sequence=VSP_006742, VSP_006744, VSP_006745; Name=4; IsoId=O60716-32; Sequence=VSP_006742, VSP_006743, VSP_006744, VSP_006745; Note=Contains a phosphothreonine at position 566 (Ref.21). Contains a nuclear localization signal (NLS) domain at positions 299-306 (By similarity). {ECO:0000244|PubMed:18669648, ECO:0000250|UniProtKB:P30999}; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:15240885, ECO:0000269|PubMed:17047063}. Nucleus {ECO:0000269|PubMed:11896187, ECO:0000269|PubMed:17115030}. Cell membrane {ECO:0000269|PubMed:15240885, ECO:0000269|PubMed:17047063}. Note=Interaction with GLIS2 promotes nuclear translocation (By similarity). Detected at cell-cell contacts (PubMed:15240885, PubMed:17047063). NANOS1 induces its translocation from sites of cell-cell contact to the cytoplasm (PubMed:17047063). CDH1 enhances cell membrane localization (PubMed:15240885). Isoforms 4A and 1AB are excluded from the nucleus (PubMed:11896187). {ECO:0000250|UniProtKB:P30999, ECO:0000269|PubMed:11896187, ECO:0000269|PubMed:15240885, ECO:0000269|PubMed:17047063}.; SUBCELLULAR LOCATION: Isoform 1A: Nucleus {ECO:0000269|PubMed:11896187}.; SUBCELLULAR LOCATION: Isoform 2A: Nucleus {ECO:0000269|PubMed:11896187}.; SUBCELLULAR LOCATION: Isoform 3A: Nucleus {ECO:0000269|PubMed:11896187}.


uniprotID: Q9UQB3
geneSymbol: CTNND2
length: 1225
go: ENSG00000169862;
name:
Catenin delta-2 (Delta-catenin) (GT24) (Neural plakophilin-related ARM-repeat protein) (NPRAP) (Neurojungin)

sequence:

opentargets:
cell-cell adherens junction [GO:0005913]; cell-cell junction [GO:0005911]; cytoplasm [GO:0005737]; dendrite [GO:0030425]; nucleus [GO:0005634]; perikaryon [GO:0043204]; plasma membrane [GO:0005886]; postsynaptic density [GO:0014069]; beta-catenin binding [GO:0008013]; cadherin binding [GO:0045296]; cell adhesion [GO:0007155]; cell-cell adhesion [GO:0098609]; cell-cell junction assembly [GO:0007043]; dendritic spine morphogenesis [GO:0060997]; regulation of canonical Wnt signaling pathway [GO:0060828]; signal transduction [GO:0007165]; synapse organization [GO:0050808]; Wnt signaling pathway [GO:0016055]

snps:
rs151129181 rs149573037 rs769623284 rs61749844 rs199506424 rs750266236 rs200377770 rs61750706 rs142843736 rs768575356 rs61754599 rs773517967 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Comment=Additional isoforms seem to exist.; Name=1; Synonyms=NPRAPa; IsoId=Q9UQB3-1; Sequence=Displayed; Name=2; Synonyms=NPRAPc; IsoId=Q9UQB3-2; Sequence=VSP_006746; 

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000250|UniProtKB:O35927}. Cell junction, adherens junction {ECO:0000250|UniProtKB:O35927}. Cell projection, dendrite {ECO:0000250|UniProtKB:O35116}. Perikaryon {ECO:0000269|PubMed:22022388}.


uniprotID: Q9UBT7
geneSymbol: CTNNAL1
name: Alpha-catulin (Alpha-catenin-related protein) (ACRP) (Catenin alpha-like protein 1)
length: 734
go: ENSG00000119326;
snps: rs28361109 rs28361118 rs16913734 rs7021366 rs34922868 rs28361167 rs28361182
sequence:

opentargets:
cytoskeleton [GO:0005856]; cytosol [GO:0005829]; plasma membrane [GO:0005886]; actin filament binding [GO:0051015]; cadherin binding [GO:0045296]; cell adhesion [GO:0007155]; Rho protein signal transduction [GO:0007266]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q9UBT7-1; Sequence=Displayed; Name=2; Synonyms=Alpha2-catulin; IsoId=Q9UBT7-2; Sequence=VSP_012583; Name=3; IsoId=Q9UBT7-3; Sequence=VSP_012582; 

location:
SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton {ECO:0000269|PubMed:12270917}. Cell membrane {ECO:0000269|PubMed:12270917}; Peripheral membrane protein {ECO:0000269|PubMed:12270917}.


uniprotID: O60931
geneSymbol: CTNS
reactome: R-HSA-425393;R-HSA-5223345;
name: Cystinosin
length: 367
go: ENSG00000040531;
drug: DB00138;
sequence:

opentargets:
extracellular exosome [GO:0070062]; integral component of membrane [GO:0016021]; intermediate filament cytoskeleton [GO:0045111]; intracellular membrane-bounded organelle [GO:0043231]; late endosome [GO:0005770]; lysosomal membrane [GO:0005765]; lysosome [GO:0005764]; melanosome [GO:0042470]; plasma membrane [GO:0005886]; vacuolar membrane [GO:0005774]; L-cystine transmembrane transporter activity [GO:0015184]; adult walking behavior [GO:0007628]; ATP metabolic process [GO:0046034]; brain development [GO:0007420]; cellular amino acid metabolic process [GO:0006520]; cognition [GO:0050890]; glutathione metabolic process [GO:0006749]; grooming behavior [GO:0007625]; ion transport [GO:0006811]; L-cystine transport [GO:0015811]; lens development in camera-type eye [GO:0002088]; long-term memory [GO:0007616]; melanin biosynthetic process [GO:0042438]; negative regulation of hydrogen peroxide biosynthetic process [GO:0010730]; positive regulation of mitochondrial membrane potential [GO:0010918]; transmembrane transport [GO:0055085]; visual learning [GO:0008542]

snps:
rs35086888 rs121908129 rs886040970 rs267606754 rs113994206 rs121908126 rs764168489 rs113994207 rs113994208 rs1327959008 rs161400 rs922106812 rs1800527 rs746307931 rs908965524 rs121908128 rs121908127 rs757535731 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=O60931-1; Sequence=Displayed; Name=2; Synonyms=cystinosin-LKG; IsoId=O60931-2; Sequence=VSP_038377; 

location:
SUBCELLULAR LOCATION: Isoform 1: Lysosome membrane {ECO:0000269|PubMed:17897319}; Multi-pass membrane protein {ECO:0000269|PubMed:17897319}. Melanosome {ECO:0000269|PubMed:22649030}.; SUBCELLULAR LOCATION: Isoform 2: Lysosome membrane {ECO:0000269|PubMed:18337546}; Multi-pass membrane protein. Cell membrane {ECO:0000269|PubMed:18337546}; Multi-pass membrane protein.


uniprotID: Q6UXN8
geneSymbol: CLEC9A
pdb: 3VPP;
name: C-type lectin domain family 9 member A (CD antigen CD370)
length: 241
go: ENSG00000197992;
snps: rs11831360
sequence:

opentargets:
cell surface [GO:0009986]; integral component of membrane [GO:0016021]; carbohydrate binding [GO:0030246]; positive regulation of cytokine secretion [GO:0050715]; receptor-mediated endocytosis [GO:0006898]

location:
SUBCELLULAR LOCATION: Membrane {ECO:0000269|PubMed:18408006}; Single-pass type II membrane protein {ECO:0000269|PubMed:18408006}.


uniprotID: A8K7I4
geneSymbol: CLCA1
reactome: R-HSA-2672351;
length: 914
go: ENSG00000016490;
snps: rs2145412 rs2753386 rs2734705 rs1142185 rs4647852 rs2791494 rs5744409 rs2791483
name:
Calcium-activated chloride channel regulator 1 (EC 3.4.-.-) (Calcium-activated chloride channel family member 1) (hCLCA1) (Calcium-activated chloride channel protein 1) (CaCC-1) (hCaCC-1)

sequence:

opentargets:
extracellular space [GO:0005615]; integral component of plasma membrane [GO:0005887]; microvillus [GO:0005902]; plasma membrane [GO:0005886]; zymogen granule membrane [GO:0042589]; chloride channel activity [GO:0005254]; intracellular calcium activated chloride channel activity [GO:0005229]; metal ion binding [GO:0046872]; metalloendopeptidase activity [GO:0004222]; calcium ion transport [GO:0006816]; cellular response to hypoxia [GO:0071456]; ion transmembrane transport [GO:0034220]

location:
SUBCELLULAR LOCATION: Secreted, extracellular space {ECO:0000269|PubMed:15919655}. Cell membrane {ECO:0000269|PubMed:15919655}; Peripheral membrane protein {ECO:0000269|PubMed:15919655}; Extracellular side {ECO:0000269|PubMed:15919655}. Note=Protein that remains attached to the plasma membrane appeared to be predominantly localized to microvilli.


uniprotID: Q9Y6N3
geneSymbol: CLCA3P
reactome: R-HSA-2672351;
length: 262
snps: rs2292830 rs2292829
location: SUBCELLULAR LOCATION: Secreted {ECO:0000269|PubMed:10095065}.
name:
Calcium-activated chloride channel regulator family member 3 (Calcium-activated chloride channel family member 3) (hCLCA3)

sequence:

opentargets:
chloride channel complex [GO:0034707]; extracellular space [GO:0005615]; plasma membrane [GO:0005886]; calcium channel activity [GO:0005262]; chloride channel activity [GO:0005254]; metalloendopeptidase activity [GO:0004222]; transporter activity [GO:0005215]; voltage-gated ion channel activity [GO:0005244]; ion transmembrane transport [GO:0034220]; regulation of ion transmembrane transport [GO:0034765]


uniprotID: P52569
geneSymbol: SLC7A2
reactome: R-HSA-352230;
length: 658
go: ENSG00000003989;
drug: DB00123;DB00129;
snps: rs12680645 rs1134975 rs62622371 rs1981498
name:
Cationic amino acid transporter 2 (CAT-2) (CAT2) (Low affinity cationic amino acid transporter 2) (Solute carrier family 7 member 2)

sequence:

opentargets:
cell junction [GO:0030054]; integral component of plasma membrane [GO:0005887]; membrane [GO:0016020]; plasma membrane [GO:0005886]; amino acid transmembrane transporter activity [GO:0015171]; arginine transmembrane transporter activity [GO:0015181]; basic amino acid transmembrane transporter activity [GO:0015174]; L-arginine transmembrane transporter activity [GO:0061459]; L-lysine transmembrane transporter activity [GO:0015189]; L-ornithine transmembrane transporter activity [GO:0000064]; amino acid transport [GO:0006865]; cellular amino acid metabolic process [GO:0006520]; L-arginine import across plasma membrane [GO:0097638]; L-ornithine transmembrane transport [GO:1903352]; macrophage activation [GO:0042116]; nitric oxide biosynthetic process [GO:0006809]; nitric oxide production involved in inflammatory response [GO:0002537]; regulation of inflammatory response [GO:0050727]; regulation of macrophage activation [GO:0043030]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; Synonyms=CAT-2B; IsoId=P52569-1; Sequence=Displayed; Name=2; Synonyms=CAT-2A; IsoId=P52569-2; Sequence=VSP_037354, VSP_023354; Name=3; IsoId=P52569-3; Sequence=VSP_037354; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:9174363}; Multi-pass membrane protein {ECO:0000269|PubMed:9174363}.


uniprotID: Q8WY07
geneSymbol: SLC7A3
reactome: R-HSA-352230;
length: 619
go: ENSG00000165349;
drug: DB00125;DB00123;DB00129;
snps: rs6525447
location: SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein.
name:
Cationic amino acid transporter 3 (CAT-3) (CAT3) (Cationic amino acid transporter y+) (Solute carrier family 7 member 3)

sequence:

opentargets:
integral component of membrane [GO:0016021]; plasma membrane [GO:0005886]; amino acid transmembrane transporter activity [GO:0015171]; arginine transmembrane transporter activity [GO:0015181]; L-lysine transmembrane transporter activity [GO:0015189]; L-ornithine transmembrane transporter activity [GO:0000064]; amino acid transport [GO:0006865]; L-arginine import across plasma membrane [GO:0097638]; L-ornithine transmembrane transport [GO:1903352]


uniprotID: O43246
geneSymbol: SLC7A4
name: Cationic amino acid transporter 4 (CAT-4) (CAT4) (Solute carrier family 7 member 4)
length: 635
go: ENSG00000099960;
drug: DB00125;DB00123;DB00129;
snps: rs2072550 rs2270384 rs55700350
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Multi-pass membrane protein {ECO:0000305}.
sequence:

opentargets:
integral component of membrane [GO:0016021]; basic amino acid transmembrane transporter activity [GO:0015174]; cellular amino acid metabolic process [GO:0006520]


uniprotID: Q6PD62
geneSymbol: CTR9
reactome: R-HSA-112382;R-HSA-674695;R-HSA-75955;R-HSA-8866654;
pdb: 5ZYQ;6GMH;
name: RNA polymerase-associated protein CTR9 homolog (SH2 domain-binding protein 1)
length: 1173
go: ENSG00000198730;
location: SUBCELLULAR LOCATION: Nucleus speckle {ECO:0000250}. Note=Found in speckles. {ECO:0000250}.
sequence:

opentargets:
Cdc73/Paf1 complex [GO:0016593]; nuclear speck [GO:0016607]; nucleoplasm [GO:0005654]; transcriptionally active chromatin [GO:0035327]; RNA polymerase II complex binding [GO:0000993]; SH2 domain binding [GO:0042169]; blastocyst growth [GO:0001832]; blastocyst hatching [GO:0001835]; cellular response to lipopolysaccharide [GO:0071222]; endodermal cell fate commitment [GO:0001711]; histone H2B ubiquitination [GO:0033523]; histone H3-K4 trimethylation [GO:0080182]; histone monoubiquitination [GO:0010390]; inner cell mass cell differentiation [GO:0001826]; interleukin-6-mediated signaling pathway [GO:0070102]; JAK-STAT cascade [GO:0007259]; negative regulation of mRNA polyadenylation [GO:1900364]; negative regulation of myeloid cell differentiation [GO:0045638]; negative regulation of transcription by RNA polymerase II [GO:0000122]; positive regulation of histone H2B ubiquitination [GO:2001168]; positive regulation of histone H3-K4 methylation [GO:0051571]; positive regulation of histone H3-K79 methylation [GO:2001162]; positive regulation of transcription by RNA polymerase II [GO:0045944]; positive regulation of transcription elongation from RNA polymerase II promoter [GO:0032968]; protein ubiquitination [GO:0016567]; regulation of genetic imprinting [GO:2000653]; regulation of histone H3-K4 methylation [GO:0051569]; stem cell population maintenance [GO:0019827]; transcription by RNA polymerase II [GO:0006366]; transcription elongation from RNA polymerase II promoter [GO:0006368]; trophectodermal cell differentiation [GO:0001829]; Wnt signaling pathway [GO:0016055]


uniprotID: P17538
geneSymbol: CTRB1
reactome: R-HSA-1592389;R-HSA-196741;
length: 263
go: ENSG00000168925;
drug: DB07899;DB07749;DB07668;DB06692;DB08692;DB08566;DB08693;DB08565;DB08374;DB01963;DB03976;DB01662;
snps: rs8061550 rs4737
location: SUBCELLULAR LOCATION: Secreted, extracellular space.
name:
Chymotrypsinogen B (EC 3.4.21.1) [Cleaved into: Chymotrypsin B chain A; Chymotrypsin B chain B; Chymotrypsin B chain C]

sequence:

opentargets:
extracellular region [GO:0005576]; extracellular space [GO:0005615]; serine-type endopeptidase activity [GO:0004252]; serine-type peptidase activity [GO:0008236]; cobalamin metabolic process [GO:0009235]; digestion [GO:0007586]; extracellular matrix disassembly [GO:0022617]


uniprotID: Q6GPI1
geneSymbol: CTRB2
reactome: R-HSA-1592389;R-HSA-196741;
length: 263
go: ENSG00000168928;
snps: rs4737
location: SUBCELLULAR LOCATION: Secreted, extracellular space.
name:
Chymotrypsinogen B2 (EC 3.4.21.1) [Cleaved into: Chymotrypsin B2 chain A; Chymotrypsin B2 chain B; Chymotrypsin B2 chain C]

sequence:

opentargets:
extracellular region [GO:0005576]; extracellular space [GO:0005615]; serine-type endopeptidase activity [GO:0004252]; serine-type peptidase activity [GO:0008236]; cobalamin metabolic process [GO:0009235]; digestion [GO:0007586]; extracellular matrix disassembly [GO:0022617]


uniprotID: Q99895
geneSymbol: CTRC
reactome: R-HSA-196741;
pdb: 4H4F;
name: Chymotrypsin-C (EC 3.4.21.2) (Caldecrin)
length: 268
go: ENSG00000162438;
sequence:

opentargets:
extracellular region [GO:0005576]; peptidase activity [GO:0008233]; serine-type endopeptidase activity [GO:0004252]; cobalamin metabolic process [GO:0009235]; proteolysis [GO:0006508]

snps:
rs200576965 rs772024986 rs184977421 rs145868278 rs536812916 rs769482036 rs515726209 rs779643710 rs775404479 rs34949635 rs200678111 rs146235499 rs202058123 rs202058123 rs201486613 rs567745213 rs140993290 rs200412314 rs142560329 rs755811899 rs121909293 rs200406696 rs540753875 rs769975164 


uniprotID: O14578
geneSymbol: CIT
reactome: R-HSA-5625900;
name: Citron Rho-interacting kinase (CRIK) (EC 2.7.11.1) (Serine/threonine-protein kinase 21)
length: 2027
go: ENSG00000122966;
snps: rs36054900 rs56193743 rs886037892 rs886037893 rs886037894
location: SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250}.
sequence:

opentargets:
cleavage furrow [GO:0032154]; cytosol [GO:0005829]; Golgi cisterna [GO:0031985]; membrane [GO:0016020]; midbody [GO:0030496]; neuronal cell body [GO:0043025]; ATP binding [GO:0005524]; metal ion binding [GO:0046872]; PDZ domain binding [GO:0030165]; protein serine/threonine kinase activity [GO:0004674]; Rho GTPase binding [GO:0017048]; scaffold protein binding [GO:0097110]; SH3 domain binding [GO:0017124]; G2/M transition of mitotic cell cycle [GO:0000086]; generation of neurons [GO:0048699]; Golgi organization [GO:0007030]; intracellular signal transduction [GO:0035556]; mitotic cell cycle [GO:0000278]; mitotic cytokinesis [GO:0000281]; neuron apoptotic process [GO:0051402]; positive regulation of cytokinesis [GO:0032467]; regulation of actin polymerization or depolymerization [GO:0008064]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; Synonyms=Long; IsoId=O14578-1; Sequence=Displayed; Name=2; Synonyms=Short, CRIK-SK; IsoId=O14578-2; Sequence=VSP_012434, VSP_012435; Name=3; IsoId=O14578-3; Sequence=VSP_014507, VSP_014508, VSP_014509; Note=No experimental confirmation available.; Name=4; IsoId=O14578-4; Sequence=VSP_043301; 


uniprotID: Q9NTU4
geneSymbol: CATSPERZ
length: 200
go: ENSG00000219435;
snps: rs2286614
name:
Cation channel sperm-associated protein subunit zeta (CatSper-zeta) (CatSperzeta) (Testis-expressed protein 40)

sequence:

opentargets:
CatSper complex [GO:0036128]; cytoplasm [GO:0005737]; sperm principal piece [GO:0097228]; flagellated sperm motility [GO:0030317]; male meiotic nuclear division [GO:0007140]; sperm capacitation [GO:0048240]; spermatogenesis [GO:0007283]

location:
SUBCELLULAR LOCATION: Cell projection, cilium, flagellum membrane {ECO:0000269|PubMed:28226241}; Peripheral membrane protein {ECO:0000305}. Note=Specifically located in the principal piece of sperm tail (PubMed:28226241). Although it does not contain a transmembrane domain, localizes with the CatSper complex at the flagellum membrane (PubMed:28226241). {ECO:0000269|PubMed:28226241}.


uniprotID: Q5K130
geneSymbol: CLLU1OS
name: Putative chronic lymphocytic leukemia up-regulated protein 1 opposite strand transcript protein
length: 101
go: ENSG00000205057;
sequence:
MNKLGHNELKECLKTATDSLQTVQPSISQTCTSYGPALGAPLPGRNEVALLTSLPPNYEISEGKPRAISAYVRAGKGNVTRRRKKTHLGNDDGKKEAQEKM


uniprotID: Q86UB2
geneSymbol: BIVM
name: Basic immunoglobulin-like variable motif-containing protein
length: 503
go: ENSG00000134897;
opentargets: cytoplasm [GO:0005737]; extracellular space [GO:0005615]; nucleus [GO:0005634]
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q86UB2-1; Sequence=Displayed; Name=2; IsoId=Q86UB2-2; Sequence=VSP_032855, VSP_032856; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:12036287}. Nucleus {ECO:0000269|PubMed:12036287}.


uniprotID: Q96NS8
geneSymbol: CLUHP3
length: 147
name:
Putative protein CLUHP3 (Clustered mitochondria (cluA/CLU1) homolog pseudogene 3) (KIAA0664-like protein 3)

sequence:
MFLNGNCLETLKKKEPEGGRRRLSHPGNMGWMRPSQETTPPDRSHHSGFGLFCGDPGPEIEPFSLWVFPQEMVLEIHQLFMDHEYPCHHITSHCTWVAAHWTTSQSCAAWQGCRRACCSTWWKSPAQCTRPTVMSATFETAQEPGPS


uniprotID: Q13490
geneSymbol: BIRC2
pdb: 1QBH;2L9M;3D9T;3D9U;3M1D;3MUP;3OZ1;3T6P;3UW4;4EB9;4HY4;4HY5;4KMN;4LGE;4LGU;4MTI;4MU7;5M6N;6EXW;
length: 618
go: ENSG00000110330;
snps: rs34749508 rs370745983 rs34510872 rs35494784
reactome:
R-HSA-111465;R-HSA-168638;R-HSA-168927;R-HSA-5213460;R-HSA-5357905;R-HSA-5357956;R-HSA-5668541;R-HSA-5675482;R-HSA-5676594;R-HSA-5689880;R-HSA-937041;

name:
Baculoviral IAP repeat-containing protein 2 (EC 2.3.2.27) (Cellular inhibitor of apoptosis 1) (C-IAP1) (IAP homolog B) (Inhibitor of apoptosis protein 2) (hIAP-2) (hIAP2) (RING finger protein 48) (RING-type E3 ubiquitin transferase BIRC2) (TNFR2-TRAF-signaling complex protein 2)

sequence:

opentargets:
CD40 receptor complex [GO:0035631]; cytoplasm [GO:0005737]; cytoplasmic side of plasma membrane [GO:0009898]; cytosol [GO:0005829]; membrane raft [GO:0045121]; nucleus [GO:0005634]; XY body [GO:0001741]; chaperone binding [GO:0051087]; cysteine-type endopeptidase inhibitor activity involved in apoptotic process [GO:0043027]; FBXO family protein binding [GO:0098770]; identical protein binding [GO:0042802]; protein N-terminus binding [GO:0047485]; transcription coactivator activity [GO:0003713]; transferase activity [GO:0016740]; ubiquitin binding [GO:0043130]; ubiquitin protein ligase activity [GO:0061630]; ubiquitin-protein transferase activity [GO:0004842]; zinc ion binding [GO:0008270]; cell surface receptor signaling pathway [GO:0007166]; I-kappaB kinase/NF-kappaB signaling [GO:0007249]; inhibition of cysteine-type endopeptidase activity involved in apoptotic process [GO:1990001]; necroptotic process [GO:0070266]; negative regulation of apoptotic process [GO:0043066]; negative regulation of necroptotic process [GO:0060546]; negative regulation of ripoptosome assembly involved in necroptotic process [GO:1902443]; NIK/NF-kappaB signaling [GO:0038061]; placenta development [GO:0001890]; positive regulation of I-kappaB kinase/NF-kappaB signaling [GO:0043123]; positive regulation of protein K48-linked ubiquitination [GO:1902524]; positive regulation of protein K63-linked ubiquitination [GO:1902523]; positive regulation of protein monoubiquitination [GO:1902527]; proteasome-mediated ubiquitin-dependent protein catabolic process [GO:0043161]; protein deubiquitination [GO:0016579]; protein heterooligomerization [GO:0051291]; protein polyubiquitination [GO:0000209]; regulation of apoptotic process [GO:0042981]; regulation of cell cycle [GO:0051726]; regulation of cell differentiation [GO:0045595]; regulation of cell proliferation [GO:0042127]; regulation of cysteine-type endopeptidase activity [GO:2000116]; regulation of inflammatory response [GO:0050727]; regulation of innate immune response [GO:0045088]; regulation of necroptotic process [GO:0060544]; regulation of NIK/NF-kappaB signaling [GO:1901222]; regulation of nucleotide-binding oligomerization domain containing signaling pathway [GO:0070424]; regulation of reactive oxygen species metabolic process [GO:2000377]; regulation of RIG-I signaling pathway [GO:0039535]; regulation of toll-like receptor signaling pathway [GO:0034121]; regulation of tumor necrosis factor-mediated signaling pathway [GO:0010803]; response to cAMP [GO:0051591]; response to ethanol [GO:0045471]; response to hypoxia [GO:0001666]; tumor necrosis factor-mediated signaling pathway [GO:0033209]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q13490-1; Sequence=Displayed; Name=2; IsoId=Q13490-2; Sequence=VSP_045314; 

location:
SUBCELLULAR LOCATION: Cytoplasm. Nucleus. Note=Agents that induce either the extrinsic or intrinsic apoptotic pathways promote its redistribution from the nuclear compartment to the cytoplasmic compartment. Associated with the midbody in telophase cells, and found diffusely in the nucleus of interphase cells.


uniprotID: P46663
geneSymbol: BDKRB1
reactome: R-HSA-375276;R-HSA-416476;R-HSA-418594;
name: B1 bradykinin receptor (B1R) (BK-1 receptor)
length: 353
go: ENSG00000100739;
snps: rs2229459 rs8004609
location: SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein.
sequence:

opentargets:
endoplasmic reticulum [GO:0005783]; integral component of plasma membrane [GO:0005887]; neuron projection [GO:0043005]; plasma membrane [GO:0005886]; bradykinin receptor activity [GO:0004947]; peptide binding [GO:0042277]; cell migration [GO:0016477]; G protein-coupled receptor signaling pathway [GO:0007186]; inflammatory response [GO:0006954]; negative regulation of blood pressure [GO:0045776]; negative regulation of cell growth [GO:0030308]; negative regulation of protein phosphorylation [GO:0001933]; positive regulation of cytosolic calcium ion concentration [GO:0007204]; positive regulation of leukocyte migration [GO:0002687]; positive regulation of release of sequestered calcium ion into cytosol [GO:0051281]; protein kinase C-activating G protein-coupled receptor signaling pathway [GO:0007205]; response to lipopolysaccharide [GO:0032496]; response to mechanical stimulus [GO:0009612]; sensory perception of pain [GO:0019233]


uniprotID: Q13489
geneSymbol: BIRC3
pdb: 2UVL;3EB5;3EB6;3M0A;3M0D;
length: 604
go: ENSG00000023445;
snps: rs2276113 rs12222256 rs17881197
reactome:
R-HSA-168638;R-HSA-168927;R-HSA-5213460;R-HSA-5357905;R-HSA-5357956;R-HSA-5668541;R-HSA-5675482;R-HSA-5676594;R-HSA-5689880;R-HSA-937041;

name:
Baculoviral IAP repeat-containing protein 3 (EC 2.3.2.27) (Apoptosis inhibitor 2) (API2) (Cellular inhibitor of apoptosis 2) (C-IAP2) (IAP homolog C) (Inhibitor of apoptosis protein 1) (hIAP-1) (hIAP1) (RING finger protein 49) (RING-type E3 ubiquitin transferase BIRC3) (TNFR2-TRAF-signaling complex protein 1)

sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; membrane raft [GO:0045121]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; protein-containing complex [GO:0032991]; cysteine-type endopeptidase inhibitor activity involved in apoptotic process [GO:0043027]; metal ion binding [GO:0046872]; transferase activity [GO:0016740]; ubiquitin protein ligase activity [GO:0061630]; ubiquitin-protein transferase activity [GO:0004842]; cell surface receptor signaling pathway [GO:0007166]; I-kappaB kinase/NF-kappaB signaling [GO:0007249]; inhibition of cysteine-type endopeptidase activity involved in apoptotic process [GO:1990001]; negative regulation of apoptotic process [GO:0043066]; negative regulation of necroptotic process [GO:0060546]; NIK/NF-kappaB signaling [GO:0038061]; positive regulation of I-kappaB kinase/NF-kappaB signaling [GO:0043123]; positive regulation of protein ubiquitination [GO:0031398]; protein deubiquitination [GO:0016579]; protein heterooligomerization [GO:0051291]; regulation of apoptotic process [GO:0042981]; regulation of cysteine-type endopeptidase activity [GO:2000116]; regulation of inflammatory response [GO:0050727]; regulation of innate immune response [GO:0045088]; regulation of necroptotic process [GO:0060544]; regulation of nucleotide-binding oligomerization domain containing signaling pathway [GO:0070424]; regulation of RIG-I signaling pathway [GO:0039535]; regulation of toll-like receptor signaling pathway [GO:0034121]; regulation of tumor necrosis factor-mediated signaling pathway [GO:0010803]; spermatogenesis [GO:0007283]; tumor necrosis factor-mediated signaling pathway [GO:0033209]

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:15665297}. Nucleus {ECO:0000269|PubMed:15665297}.


uniprotID: P30411
geneSymbol: BDKRB2
reactome: R-HSA-375276;R-HSA-416476;R-HSA-418594;
name: B2 bradykinin receptor (B2R) (BK-2 receptor)
length: 391
go: ENSG00000168398;
drug: DB05038;DB06196;
snps: rs1046248 rs2227279
location: SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein.
sequence:

opentargets:
endosome [GO:0005768]; integral component of plasma membrane [GO:0005887]; plasma membrane [GO:0005886]; bradykinin receptor activity [GO:0004947]; phosphatidylinositol phospholipase C activity [GO:0004435]; protease binding [GO:0002020]; protein heterodimerization activity [GO:0046982]; type 1 angiotensin receptor binding [GO:0031702]; arachidonic acid secretion [GO:0050482]; blood circulation [GO:0008015]; cell surface receptor signaling pathway [GO:0007166]; G protein-coupled receptor signaling pathway [GO:0007186]; inflammatory response [GO:0006954]; negative regulation of intrinsic apoptotic signaling pathway in response to osmotic stress by p53 class mediator [GO:1902239]; negative regulation of peptidyl-serine phosphorylation [GO:0033137]; positive regulation of cytosolic calcium ion concentration [GO:0007204]; regulation of vascular permeability [GO:0043114]; regulation of vasoconstriction [GO:0019229]; response to salt stress [GO:0009651]; smooth muscle contraction [GO:0006939]; transmembrane receptor protein tyrosine kinase signaling pathway [GO:0007169]; vasoconstriction [GO:0042310]; vasodilation [GO:0042311]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=Long; IsoId=P30411-1; Sequence=Displayed; Name=Short; IsoId=P30411-2; Sequence=VSP_001865; 


uniprotID: O15392
geneSymbol: BIRC5
name: Baculoviral IAP repeat-containing protein 5 (Apoptosis inhibitor 4) (Apoptosis inhibitor survivin)
length: 142
go: ENSG00000089685;
drug: DB05141;
snps: rs2071214
reactome:
R-HSA-141444;R-HSA-2467813;R-HSA-2500257;R-HSA-4615885;R-HSA-5663220;R-HSA-6785807;R-HSA-6803205;R-HSA-68877;R-HSA-8951664;

pdb:
1E31;1F3H;1XOX;2QFA;2RAW;2RAX;3UEC;3UED;3UEE;3UEF;3UEG;3UEH;3UEI;3UIG;3UIH;3UII;3UIJ;3UIK;4A0I;4A0J;4A0N;

sequence:
MGAPTLPPAWQPFLKDHRISTFKNWPFLEGCACTPERMAEAGFIHCPTENEPDLAQCFFCFKELEGWEPDDDPIEEHKKHSSGCAFLSVKKQFEELTLGEFLKLDRERAKNKIAKETNNKKKEFEETAKKVRRAIEQLAAMD

opentargets:
centriole [GO:0005814]; chromosome passenger complex [GO:0032133]; chromosome, centromeric region [GO:0000775]; condensed chromosome kinetochore [GO:0000777]; cytoplasm [GO:0005737]; cytoplasmic microtubule [GO:0005881]; cytosol [GO:0005829]; interphase microtubule organizing center [GO:0031021]; midbody [GO:0030496]; nuclear chromosome [GO:0000228]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; spindle microtubule [GO:0005876]; chaperone binding [GO:0051087]; cobalt ion binding [GO:0050897]; cofactor binding [GO:0048037]; cysteine-type endopeptidase inhibitor activity [GO:0004869]; cysteine-type endopeptidase inhibitor activity involved in apoptotic process [GO:0043027]; enzyme binding [GO:0019899]; identical protein binding [GO:0042802]; metal ion binding [GO:0046872]; microtubule binding [GO:0008017]; protein heterodimerization activity [GO:0046982]; protein homodimerization activity [GO:0042803]; Ran GTPase binding [GO:0008536]; tubulin binding [GO:0015631]; zinc ion binding [GO:0008270]; apoptotic process [GO:0006915]; cell cycle [GO:0007049]; cell division [GO:0051301]; chromosome segregation [GO:0007059]; cytokine-mediated signaling pathway [GO:0019221]; establishment of chromosome localization [GO:0051303]; G2/M transition of mitotic cell cycle [GO:0000086]; mitotic cell cycle [GO:0000278]; mitotic cytokinesis [GO:0000281]; mitotic spindle assembly checkpoint [GO:0007094]; negative regulation of apoptotic process [GO:0043066]; negative regulation of cysteine-type endopeptidase activity involved in apoptotic process [GO:0043154]; negative regulation of transcription, DNA-templated [GO:0045892]; positive regulation of cell proliferation [GO:0008284]; positive regulation of exit from mitosis [GO:0031536]; positive regulation of mitotic cell cycle [GO:0045931]; protein phosphorylation [GO:0006468]; protein-containing complex localization [GO:0031503]; regulation of apoptotic process [GO:0042981]; sensory perception of sound [GO:0007605]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=7;  Name=1; Synonyms=Alpha; IsoId=O15392-1; Sequence=Displayed; Name=2; Synonyms=2B, Beta; IsoId=O15392-2; Sequence=VSP_002454; Name=3; Synonyms=DeltaEx3; IsoId=O15392-3; Sequence=VSP_020338; Name=4; Synonyms=3B; IsoId=O15392-4; Sequence=VSP_020342; Name=5; Synonyms=SI; IsoId=O15392-5; Sequence=VSP_020341; Name=6; Synonyms=3 alpha; IsoId=O15392-6; Sequence=VSP_020339; Name=7; Synonyms=2 alpha; IsoId=O15392-7; Sequence=VSP_020340; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:20627126, ECO:0000269|PubMed:20826784, ECO:0000269|PubMed:21364656}. Nucleus {ECO:0000269|PubMed:20627126, ECO:0000269|PubMed:20826784, ECO:0000269|PubMed:21364656}. Chromosome {ECO:0000269|PubMed:14610074}. Chromosome, centromere {ECO:0000269|PubMed:11084331, ECO:0000269|PubMed:14610074, ECO:0000269|PubMed:16322459}. Cytoplasm, cytoskeleton, spindle {ECO:0000269|PubMed:11084331}. Chromosome, centromere, kinetochore {ECO:0000269|PubMed:11084331}. Midbody {ECO:0000269|PubMed:15665297}. Note=Localizes at the centromeres from prophase to metaphase, at the spindle midzone during anaphase and a the midbody during telophase and cytokinesis. Accumulates in the nucleus upon treatment with leptomycin B (LMB), a XPO1/CRM1 nuclear export inhibitor (By similarity). Localizes on chromosome arms and inner centromeres from prophase through metaphase. Localizes to kinetochores in metaphase, distributes to the midzone microtubules in anaphase and at telophase, localizes exclusively to the midbody (PubMed:11084331). Colocalizes with AURKB at mitotic chromosomes (PubMed:14610074). Acetylation at Lys-129 directs its localization to the nucleus by enhancing homodimerization and thereby inhibiting XPO1/CRM1-mediated nuclear export (PubMed:20826784). {ECO:0000250|UniProtKB:E3SCZ8, ECO:0000269|PubMed:11084331, ECO:0000269|PubMed:14610074, ECO:0000269|PubMed:20826784}.


uniprotID: P23946
geneSymbol: CMA1
reactome: R-HSA-1433557;R-HSA-1592389;R-HSA-2022377;
name: Chymase (EC 3.4.21.39) (Alpha-chymase) (Mast cell protease I)
length: 247
go: ENSG00000092009;
drug: DB03814;DB04016;DB07680;DB03297;DB03149;
snps: rs5246 rs5247 rs13306252
location: SUBCELLULAR LOCATION: Secreted. Cytoplasmic granule. Note=Mast cell granules.
pdb:
1KLT;1NN6;1PJP;1T31;2HVX;3N7O;3S0N;4AFQ;4AFS;4AFU;4AFZ;4AG1;4AG2;4K2Y;4K5Z;4K60;4K69;4KP0;5YJM;5YJP;

sequence:

opentargets:
collagen-containing extracellular matrix [GO:0062023]; cytoplasm [GO:0005737]; extracellular region [GO:0005576]; extracellular space [GO:0005615]; secretory granule [GO:0030141]; endopeptidase activity [GO:0004175]; peptide binding [GO:0042277]; serine-type endopeptidase activity [GO:0004252]; serine-type peptidase activity [GO:0008236]; angiotensin maturation [GO:0002003]; basement membrane disassembly [GO:0034769]; cellular response to glucose stimulus [GO:0071333]; extracellular matrix disassembly [GO:0022617]; interleukin-1 beta biosynthetic process [GO:0050720]; midbrain development [GO:0030901]; positive regulation of angiogenesis [GO:0045766]; regulation of inflammatory response [GO:0050727]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P23946-1; Sequence=Displayed; Name=2; IsoId=P23946-2; Sequence=VSP_056947; Note=No experimental confirmation available.; 


uniprotID: Q8IZY5
geneSymbol: BLID
name: BH3-like motif-containing cell death inducer (Breast cancer cell protein 2)
length: 108
go: ENSG00000259571;
snps: rs7116084
sequence:
MVTLLPIEGQEIHFFEILESECVLYTGWIERASGSSIYPEAKARLPLEALLGSNKEPMLPKETVLSLKRYNLGSSAMKRNVPGHVLQRPSYLTRIQVTLLCNSSAEAL

opentargets:
cytosol [GO:0005829]; mitochondrion [GO:0005739]; apoptotic process [GO:0006915]; positive regulation of cysteine-type endopeptidase activity involved in apoptotic process [GO:0043280]

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:15069058}. Mitochondrion {ECO:0000269|PubMed:15069058}. Note=Lower abundance in mitochondrion than in cytoplasm.


uniprotID: P51451
geneSymbol: BLK
reactome: R-HSA-8939245;R-HSA-983695;
name: Tyrosine-protein kinase Blk (EC 2.7.10.2) (B lymphocyte kinase) (p55-Blk)
length: 505
go: ENSG00000136573;
snps: rs35339715 rs55758736
sequence:

opentargets:
cytosol [GO:0005829]; extrinsic component of cytoplasmic side of plasma membrane [GO:0031234]; ATP binding [GO:0005524]; non-membrane spanning protein tyrosine kinase activity [GO:0004715]; protein tyrosine kinase activity [GO:0004713]; signaling receptor binding [GO:0005102]; B cell receptor signaling pathway [GO:0050853]; cell differentiation [GO:0030154]; intracellular signal transduction [GO:0035556]; peptidyl-tyrosine autophosphorylation [GO:0038083]; positive regulation of insulin secretion [GO:0032024]; regulation of B cell receptor signaling pathway [GO:0050855]; transmembrane receptor protein tyrosine kinase signaling pathway [GO:0007169]

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000250}; Lipid-anchor {ECO:0000250}. Note=Present and active in lipid rafts. Membrane location is required for the phosphorylation of CD79A and CD79B (By similarity). {ECO:0000250}.


uniprotID: Q96DG6
geneSymbol: CMBL
reactome: R-HSA-211945;
name: Carboxymethylenebutenolidase homolog (EC 3.1.-.-)
length: 245
go: ENSG00000164237;
snps: rs35489000
location: SUBCELLULAR LOCATION: Cytoplasm, cytosol {ECO:0000269|PubMed:20177059}.
sequence:

opentargets:
cytosol [GO:0005829]; extracellular exosome [GO:0070062]; hydrolase activity [GO:0016787]; xenobiotic metabolic process [GO:0006805]


uniprotID: A8MY62
geneSymbol: LACTBL1
name: Putative beta-lactamase-like 1
length: 500
sequence:


uniprotID: P13497
geneSymbol: BMP1
reactome: R-HSA-1474228;R-HSA-1650814;R-HSA-2214320;R-HSA-2243919;R-HSA-8963896;
pdb: 3EDG;3EDH;6BSL;6BSM;6BTN;6BTO;6BTP;6BTQ;
length: 986
go: ENSG00000168487;
snps: rs318240762 rs398122891 rs786205219 rs11996036
name:
Bone morphogenetic protein 1 (BMP-1) (EC 3.4.24.19) (Mammalian tolloid protein) (mTld) (Procollagen C-proteinase) (PCP)

sequence:

opentargets:
extracellular region [GO:0005576]; extracellular space [GO:0005615]; Golgi apparatus [GO:0005794]; vesicle [GO:0031982]; calcium ion binding [GO:0005509]; cytokine activity [GO:0005125]; growth factor activity [GO:0008083]; identical protein binding [GO:0042802]; metalloendopeptidase activity [GO:0004222]; metallopeptidase activity [GO:0008237]; peptidase activity [GO:0008233]; serine-type endopeptidase activity [GO:0004252]; zinc ion binding [GO:0008270]; cartilage condensation [GO:0001502]; cell differentiation [GO:0030154]; extracellular matrix disassembly [GO:0022617]; high-density lipoprotein particle assembly [GO:0034380]; multicellular organism development [GO:0007275]; ossification [GO:0001503]; positive regulation of cartilage development [GO:0061036]; proteolysis [GO:0006508]; skeletal system development [GO:0001501]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=7;  Name=BMP1-3; IsoId=P13497-1; Sequence=Displayed; Name=BMP1-1; IsoId=P13497-2; Sequence=VSP_005461, VSP_005462; Name=BMP1-2; IsoId=P13497-7; Sequence=Not described; Name=BMP1-4; IsoId=P13497-3; Sequence=VSP_005463, VSP_005464; Note=May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.; Name=BMP1-5; IsoId=P13497-4; Sequence=VSP_005465, VSP_005466; Note=May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.; Name=BMP1-6; IsoId=P13497-5; Sequence=VSP_005467, VSP_005468; Note=May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.; Name=BMP1-7; IsoId=P13497-6; Sequence=VSP_005469, VSP_005470; 

location:
SUBCELLULAR LOCATION: Golgi apparatus, trans-Golgi network {ECO:0000269|PubMed:12637569}. Secreted, extracellular space, extracellular matrix {ECO:0000269|PubMed:12637569}. Note=Co-localizes with POSTN in the Golgi. {ECO:0000250}.


uniprotID: O00327
geneSymbol: ARNTL
reactome: R-HSA-1368108;R-HSA-1989781;R-HSA-400253;
pdb: 4H10;
length: 626
go: ENSG00000133794;
name:
Aryl hydrocarbon receptor nuclear translocator-like protein 1 (Basic-helix-loop-helix-PAS protein MOP3) (Brain and muscle ARNT-like 1) (Class E basic helix-loop-helix protein 5) (bHLHe5) (Member of PAS protein 3) (PAS domain-containing protein 3) (bHLH-PAS protein JAP3)

sequence:

opentargets:
chromatoid body [GO:0033391]; intracellular membrane-bounded organelle [GO:0043231]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; PML body [GO:0016605]; transcription factor complex [GO:0005667]; aryl hydrocarbon receptor binding [GO:0017162]; bHLH transcription factor binding [GO:0043425]; DNA binding [GO:0003677]; DNA-binding transcription activator activity, RNA polymerase II-specific [GO:0001228]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; E-box binding [GO:0070888]; Hsp90 protein binding [GO:0051879]; protein heterodimerization activity [GO:0046982]; repressing transcription factor binding [GO:0070491]; RNA polymerase II distal enhancer sequence-specific DNA binding [GO:0000980]; sequence-specific DNA binding [GO:0043565]; transcription regulatory region sequence-specific DNA binding [GO:0000976]; circadian regulation of gene expression [GO:0032922]; circadian rhythm [GO:0007623]; maternal process involved in parturition [GO:0060137]; negative regulation of cold-induced thermogenesis [GO:0120163]; negative regulation of fat cell differentiation [GO:0045599]; negative regulation of glucocorticoid receptor signaling pathway [GO:2000323]; negative regulation of TOR signaling [GO:0032007]; negative regulation of transcription, DNA-templated [GO:0045892]; oxidative stress-induced premature senescence [GO:0090403]; positive regulation of canonical Wnt signaling pathway [GO:0090263]; positive regulation of circadian rhythm [GO:0042753]; positive regulation of protein acetylation [GO:1901985]; positive regulation of skeletal muscle cell differentiation [GO:2001016]; positive regulation of transcription by RNA polymerase II [GO:0045944]; positive regulation of transcription, DNA-templated [GO:0045893]; proteasome-mediated ubiquitin-dependent protein catabolic process [GO:0043161]; protein import into nucleus, translocation [GO:0000060]; regulation of cell cycle [GO:0051726]; regulation of cellular senescence [GO:2000772]; regulation of hair cycle [GO:0042634]; regulation of insulin secretion [GO:0050796]; regulation of neurogenesis [GO:0050767]; regulation of protein catabolic process [GO:0042176]; regulation of transcription, DNA-templated [GO:0006355]; regulation of type B pancreatic cell development [GO:2000074]; response to redox state [GO:0051775]; spermatogenesis [GO:0007283]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=9;  Comment=Additional isoforms seem to exist.; Name=BMAL1B; Synonyms=JAP3; IsoId=O00327-2; Sequence=Displayed; Name=BMAL1A; IsoId=O00327-1; Sequence=VSP_002094; Name=BMAL1C; IsoId=O00327-3; Sequence=VSP_002096, VSP_002097; Name=BMAL1D; IsoId=O00327-4; Sequence=VSP_002098; Name=BMAL1E; IsoId=O00327-5; Sequence=VSP_002099, VSP_002100; Name=BMAL1F; IsoId=O00327-6; Sequence=VSP_002101, VSP_002102; Name=MOP3; IsoId=O00327-7; Sequence=VSP_002095; Name=8; IsoId=O00327-8; Sequence=VSP_035457; Name=9; IsoId=O00327-9; Sequence=VSP_002094, VSP_035457; 

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000255|PROSITE-ProRule:PRU00981, ECO:0000269|PubMed:24005054}. Cytoplasm {ECO:0000250|UniProtKB:Q9WTL8}. Nucleus, PML body {ECO:0000250|UniProtKB:Q9WTL8}. Note=Shuttles between the nucleus and the cytoplasm and this nucleocytoplasmic shuttling is essential for the nuclear accumulation of CLOCK, target gene transcription and the degradation of the CLOCK-ARNTL/BMAL1 heterodimer. The sumoylated form localizes in the PML body. Sequestered to the cytoplasm in the presence of ID2. {ECO:0000250|UniProtKB:Q9WTL8}.


uniprotID: P10645
geneSymbol: CHGA
reactome: R-HSA-6803157;
pdb: 1LV4;
length: 457
go: ENSG00000100604;
name:
Chromogranin-A (CgA) (Pituitary secretory protein I) (SP-I) [Cleaved into: Vasostatin-1 (Vasostatin I); Vasostatin-2 (Vasostatin II); EA-92; ES-43; Pancreastatin; SS-18; WA-8; WE-14; LF-19; Catestatin (SL21); AL-11; GV-19; GR-44; ER-37; GE-25; Serpinin-RRG; Serpinin; p-Glu serpinin precursor]

sequence:

opentargets:
chromaffin granule [GO:0042583]; extracellular region [GO:0005576]; extracellular space [GO:0005615]; mast cell granule [GO:0042629]; perinuclear region of cytoplasm [GO:0048471]; secretory granule [GO:0030141]; transport vesicle membrane [GO:0030658]; adenylate cyclase-activating adrenergic receptor signaling pathway involved in cardiac muscle relaxation [GO:0086030]; antimicrobial humoral response [GO:0019730]; defense response to fungus [GO:0050832]; defense response to Gram-negative bacterium [GO:0050829]; defense response to Gram-positive bacterium [GO:0050830]; innate immune response [GO:0045087]; killing of cells of other organism [GO:0031640]; mast cell activation [GO:0045576]; mast cell chemotaxis [GO:0002551]; mast cell cytokine production [GO:0032762]; mast cell degranulation [GO:0043303]; negative regulation of blood vessel diameter [GO:0097756]; negative regulation of catecholamine secretion [GO:0033604]; negative regulation of hormone secretion [GO:0046888]; negative regulation of insulin secretion [GO:0046676]; negative regulation of neuron death [GO:1901215]; organelle organization [GO:0006996]; positive regulation of cardiac muscle contraction [GO:0060452]; positive regulation of dense core granule biogenesis [GO:2000707]; positive regulation of phospholipase C-activating G protein-coupled receptor signaling pathway [GO:1900738]; positive regulation of relaxation of cardiac muscle [GO:1901899]; regulation of blood pressure [GO:0008217]; regulation of the force of heart contraction [GO:0002026]

snps:
rs3742712 rs9658654 rs9658655 rs9658662 rs9658663 rs9658664 rs9658665 rs2228575 rs9658667 rs9658668 rs9658669 rs729940 

location:
SUBCELLULAR LOCATION: Cytoplasmic vesicle, secretory vesicle lumen {ECO:0000250}. Cytoplasmic vesicle, secretory vesicle membrane {ECO:0000250}. Secreted. Note=Associated with the secretory granule membrane through direct interaction to SCG3 that in turn binds to cholesterol-enriched lipid rafts in intragranular conditions. {ECO:0000250}.; SUBCELLULAR LOCATION: Serpinin: Secreted {ECO:0000250|UniProtKB:P26339}. Cytoplasmic vesicle, secretory vesicle {ECO:0000250|UniProtKB:P26339}. Note=Pyroglutaminated serpinin localizes to secretory vesicle. {ECO:0000250|UniProtKB:P26339}.


uniprotID: Q8WYA1
geneSymbol: ARNTL2
reactome: R-HSA-1368108;
pdb: 2KDK;
length: 636
go: ENSG00000029153;
snps: rs1037921 rs11049005
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000255|PROSITE-ProRule:PRU00981, ECO:0000269|PubMed:10964693}.
name:
Aryl hydrocarbon receptor nuclear translocator-like protein 2 (Basic-helix-loop-helix-PAS protein MOP9) (Brain and muscle ARNT-like 2) (CYCLE-like factor) (CLIF) (Class E basic helix-loop-helix protein 6) (bHLHe6) (Member of PAS protein 9) (PAS domain-containing protein 9)

sequence:

opentargets:
cytoplasm [GO:0005737]; nucleolus [GO:0005730]; nucleus [GO:0005634]; transcription factor complex [GO:0005667]; DNA-binding transcription factor activity [GO:0003700]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; E-box binding [GO:0070888]; protein dimerization activity [GO:0046983]; RNA polymerase II proximal promoter sequence-specific DNA binding [GO:0000978]; circadian rhythm [GO:0007623]; entrainment of circadian clock [GO:0009649]; positive regulation of circadian rhythm [GO:0042753]; positive regulation of transcription by RNA polymerase II [GO:0045944]; positive regulation of transcription, DNA-templated [GO:0045893]; regulation of transcription by RNA polymerase II [GO:0006357]; regulation of transcription, DNA-templated [GO:0006355]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=9;  Name=1; Synonyms=BMAL2a; IsoId=Q8WYA1-1; Sequence=Displayed; Name=2; Synonyms=BMAL2b; IsoId=Q8WYA1-2; Sequence=VSP_022584; Name=3; Synonyms=BMAL2c; IsoId=Q8WYA1-3; Sequence=VSP_022585, VSP_022581, VSP_022584; Name=4; Synonyms=BMAL2d; IsoId=Q8WYA1-4; Sequence=VSP_022581, VSP_022584; Name=5; Synonyms=CLIF; IsoId=Q8WYA1-5; Sequence=VSP_022581; Name=6; IsoId=Q8WYA1-6; Sequence=VSP_022580, VSP_022581, VSP_022584; Name=7; Synonyms=MOP9 long form; IsoId=Q8WYA1-7; Sequence=VSP_022580, VSP_022584; Name=8; Synonyms=MOP9 short form; IsoId=Q8WYA1-8; Sequence=VSP_022580, VSP_022582, VSP_022583, VSP_022584; Note=No experimental confirmation available.; Name=9; IsoId=Q8WYA1-9; Sequence=VSP_022585, VSP_022581, VSP_022584, VSP_044773; Note=No experimental confirmation available.; 


uniprotID: Q12983
geneSymbol: BNIP3
pdb: 2J5D;2KA1;2KA2;
name: BCL2/adenovirus E1B 19 kDa protein-interacting protein 3
length: 259
go: ENSG00000176171;
sequence:

opentargets:
cytoplasm [GO:0005737]; dendrite [GO:0030425]; endoplasmic reticulum [GO:0005783]; integral component of mitochondrial outer membrane [GO:0031307]; mitochondrial membrane [GO:0031966]; mitochondrial outer membrane [GO:0005741]; mitochondrion [GO:0005739]; nuclear envelope [GO:0005635]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; postsynaptic density [GO:0014069]; GTPase binding [GO:0051020]; identical protein binding [GO:0042802]; protein heterodimerization activity [GO:0046982]; protein homodimerization activity [GO:0042803]; apoptotic process [GO:0006915]; autophagic cell death [GO:0048102]; autophagy of mitochondrion [GO:0000422]; brown fat cell differentiation [GO:0050873]; cardiac muscle cell apoptotic process [GO:0010659]; cell death [GO:0008219]; cellular response to cobalt ion [GO:0071279]; cellular response to hydrogen peroxide [GO:0070301]; cellular response to hypoxia [GO:0071456]; cellular response to mechanical stimulus [GO:0071260]; cerebral cortex development [GO:0021987]; defense response to virus [GO:0051607]; granzyme-mediated apoptotic signaling pathway [GO:0008626]; intrinsic apoptotic signaling pathway in response to hypoxia [GO:1990144]; mitochondrial fragmentation involved in apoptotic process [GO:0043653]; mitochondrial outer membrane permeabilization [GO:0097345]; mitochondrial protein catabolic process [GO:0035694]; negative regulation of apoptotic process [GO:0043066]; negative regulation of cell death [GO:0060548]; negative regulation of membrane potential [GO:0045837]; negative regulation of mitochondrial fusion [GO:0010637]; negative regulation of mitochondrial membrane permeability involved in apoptotic process [GO:1902109]; negative regulation of mitochondrial membrane potential [GO:0010917]; negative regulation of reactive oxygen species metabolic process [GO:2000378]; neuron apoptotic process [GO:0051402]; oligodendrocyte differentiation [GO:0048709]; positive regulation of apoptotic process [GO:0043065]; positive regulation of autophagy [GO:0010508]; positive regulation of autophagy of mitochondrion [GO:1903599]; positive regulation of cardiac muscle cell apoptotic process [GO:0010666]; positive regulation of macroautophagy [GO:0016239]; positive regulation of mitochondrial calcium ion concentration [GO:0051561]; positive regulation of mitochondrial fission [GO:0090141]; positive regulation of necrotic cell death [GO:0010940]; positive regulation of programmed cell death [GO:0043068]; positive regulation of protein complex disassembly [GO:0043243]; positive regulation of release of cytochrome c from mitochondria [GO:0090200]; reactive oxygen species metabolic process [GO:0072593]; regulation of aerobic respiration [GO:1903715]; regulation of mitochondrial membrane permeability [GO:0046902]; response to bacterium [GO:0009617]; response to hyperoxia [GO:0055093]; response to hypoxia [GO:0001666]; toxin transport [GO:1901998]; viral process [GO:0016032]

location:
SUBCELLULAR LOCATION: Mitochondrion. Mitochondrion outer membrane; Single-pass membrane protein. Note=Coexpression with the EIB 19-kDa protein results in a shift in NIP3 localization pattern to the nuclear envelope. Colocalizes with ACAA2 in the mitochondria. Colocalizes with SPATA18 at the mitochondrion outer membrane.


uniprotID: P22004
geneSymbol: BMP6
pdb: 2QCW;2R52;2R53;
name: Bone morphogenetic protein 6 (BMP-6) (VG-1-related protein) (VG-1-R) (VGR-1)
length: 513
go: ENSG00000153162;
snps: rs10458105 rs909733732
location: SUBCELLULAR LOCATION: Secreted {ECO:0000250}.
sequence:

opentargets:
cytoplasm [GO:0005737]; extracellular space [GO:0005615]; vesicle [GO:0031982]; BMP receptor binding [GO:0070700]; cytokine activity [GO:0005125]; growth factor activity [GO:0008083]; protein heterodimerization activity [GO:0046982]; transforming growth factor beta receptor binding [GO:0005160]; BMP signaling pathway [GO:0030509]; cartilage development [GO:0051216]; cell development [GO:0048468]; cellular iron ion homeostasis [GO:0006879]; cellular response to BMP stimulus [GO:0071773]; cellular response to iron ion [GO:0071281]; cellular response to mechanical stimulus [GO:0071260]; endochondral ossification [GO:0001958]; eye development [GO:0001654]; immune response [GO:0006955]; inflammatory response [GO:0006954]; kidney development [GO:0001822]; male genitalia development [GO:0030539]; multicellular organismal iron ion homeostasis [GO:0060586]; negative regulation of transcription by RNA polymerase II [GO:0000122]; osteoblast differentiation [GO:0001649]; positive regulation of aldosterone biosynthetic process [GO:0032349]; positive regulation of aldosterone secretion [GO:2000860]; positive regulation of bone mineralization [GO:0030501]; positive regulation of cell proliferation [GO:0008284]; positive regulation of chondrocyte differentiation [GO:0032332]; positive regulation of endothelial cell differentiation [GO:0045603]; positive regulation of endothelial cell proliferation [GO:0001938]; positive regulation of epithelial cell proliferation [GO:0050679]; positive regulation of lipopolysaccharide-mediated signaling pathway [GO:0031666]; positive regulation of neuron differentiation [GO:0045666]; positive regulation of osteoblast differentiation [GO:0045669]; positive regulation of pathway-restricted SMAD protein phosphorylation [GO:0010862]; positive regulation of protein secretion [GO:0050714]; positive regulation of SMAD protein signal transduction [GO:0060391]; positive regulation of transcription by RNA polymerase II [GO:0045944]; regulation of apoptotic process [GO:0042981]; regulation of MAPK cascade [GO:0043408]; response to activity [GO:0014823]; response to glucocorticoid [GO:0051384]; response to magnesium ion [GO:0032026]; response to retinoic acid [GO:0032526]; skeletal system development [GO:0001501]; SMAD protein signal transduction [GO:0060395]; type B pancreatic cell development [GO:0003323]


uniprotID: Q96B45
geneSymbol: BORCS7
name: BLOC-1-related complex subunit 7 (Diaskedin)
length: 105
opentargets: BORC complex [GO:0099078]; lysosomal membrane [GO:0005765]
location: SUBCELLULAR LOCATION: Lysosome membrane {ECO:0000305|PubMed:25898167}.
sequence:
MATGTPESQARFGQSVKGLLTEKVTTCGTDVIALTKQVLKGSRSSELLGQAARNMVLQEDAILHSEDSLRKMAIITTHLQYQQEAIQKNVEQSSDLQDQLNHLLK


uniprotID: Q9BQ75
geneSymbol: CMSS1
name: Protein CMSS1 (Cms1 ribosomal small subunit homolog)
length: 279
go: ENSG00000184220;
opentargets: RNA binding [GO:0003723]
snps: rs11537817 rs11537816
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9BQ75-1; Sequence=Displayed; Name=2; IsoId=Q9BQ75-2; Sequence=VSP_046688; 


uniprotID: O94983
geneSymbol: CAMTA2
name: Calmodulin-binding transcription activator 2
length: 1202
go: ENSG00000108509;
snps: rs238234 rs16942615
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000305|PubMed:11925432}.
sequence:

opentargets:
nucleus [GO:0005634]; chromatin binding [GO:0003682]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; histone deacetylase binding [GO:0042826]; proximal promoter DNA-binding transcription activator activity, RNA polymerase II-specific [GO:0001077]; sequence-specific DNA binding [GO:0043565]; transcription factor binding [GO:0008134]; cardiac muscle hypertrophy in response to stress [GO:0014898]; positive regulation of transcription by RNA polymerase II [GO:0045944]; regulation of transcription by RNA polymerase II [GO:0006357]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=6;  Name=1; IsoId=O94983-1; Sequence=Displayed; Name=2; IsoId=O94983-2; Sequence=VSP_018493; Name=3; IsoId=O94983-3; Sequence=VSP_018490, VSP_018493; Name=4; IsoId=O94983-4; Sequence=VSP_018491, VSP_018492; Name=5; IsoId=O94983-5; Sequence=VSP_018489; Name=6; IsoId=O94983-6; Sequence=VSP_018491, VSP_046059; Note=No experimental confirmation available.; 


uniprotID: Q9H0E9
geneSymbol: BRD8
reactome: R-HSA-3214847;
length: 1235
go: ENSG00000112983;
snps: rs11750814 rs6883021 rs412051
location: SUBCELLULAR LOCATION: Nucleus.
name:
Bromodomain-containing protein 8 (Skeletal muscle abundant protein) (Skeletal muscle abundant protein 2) (Thyroid hormone receptor coactivating protein of 120 kDa) (TrCP120) (p120)

sequence:

opentargets:
mitochondrion [GO:0005739]; NuA4 histone acetyltransferase complex [GO:0035267]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; Swr1 complex [GO:0000812]; DNA-binding transcription factor activity [GO:0003700]; thyroid hormone receptor activity [GO:0004887]; cell surface receptor signaling pathway [GO:0007166]; histone H2A acetylation [GO:0043968]; histone H4 acetylation [GO:0043967]; positive regulation of transcription by RNA polymerase II [GO:0045944]; regulation of growth [GO:0040008]; regulation of transcription by RNA polymerase II [GO:0006357]; regulation of transcription, DNA-templated [GO:0006355]; signal transduction [GO:0007165]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=Q9H0E9-1; Sequence=Displayed; Name=2; IsoId=Q9H0E9-2; Sequence=VSP_012880, VSP_012883, VSP_012884; Name=3; IsoId=Q9H0E9-3; Sequence=VSP_012879, VSP_012880, VSP_012881, VSP_012882, VSP_012883, VSP_012884; Name=4; IsoId=Q9H0E9-4; Sequence=VSP_012880, VSP_023187, VSP_023188, VSP_023189, VSP_023190, VSP_023191; 


uniprotID: P59051
geneSymbol: BRWD1-AS2
length: 145
name:
Putative uncharacterized protein encoded by BRWD1-AS2 (ATP1A1 antisense RNA 1) (ATP1A1 antisense gene protein 1) (BRWD1 intronic transcript 2)

sequence:
MLGWIQPSRQPQLRAAPPTRTPSAKRCILCNFLPGCWLVGDVAGSRQPSAPQTLRQRQHTRPPPQERGSGRRSPLREARRANPHFKSFPVLEARGLPCGARRTGPRRPVREMTLPSDPERATLPNPRLGAPAVPRRGPRSHGGRR


uniprotID: Q8N769
geneSymbol: C14orf178
name: Uncharacterized protein C14orf178
length: 122
snps: rs8015313
sequence:
MGREMKKTGTPRPFRIEDPNQQPTWHDQPEMGSHYFAQAGLELLGSSNPPASASQSAGITGVSHCARPGEHDLNHTVFQVKDSTFLRHLESDRPEFKSCLPPHFTEPSVSLSTSEGCEDAMG

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q8N769-1; Sequence=Displayed; Name=2; IsoId=Q8N769-2; Sequence=VSP_022698; Note=No experimental confirmation available.; Name=3; IsoId=Q8N769-3; Sequence=VSP_022699, VSP_022700; Note=No experimental confirmation available.; 


uniprotID: Q8WXQ3
geneSymbol: LINC01599
name: Putative uncharacterized protein encoded by LINC01599
length: 324
sequence:


uniprotID: P09543
geneSymbol: CNP
pdb: 1WOJ;
name: 2',3'-cyclic-nucleotide 3'-phosphodiesterase (CNP) (CNPase) (EC 3.1.4.37)
length: 421
go: ENSG00000173786;
snps: rs34353668
sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; extracellular exosome [GO:0070062]; extracellular space [GO:0005615]; melanosome [GO:0042470]; membrane [GO:0016020]; microtubule [GO:0005874]; microvillus [GO:0005902]; mitochondrial inner membrane [GO:0005743]; mitochondrial outer membrane [GO:0005741]; myelin sheath abaxonal region [GO:0035748]; myelin sheath adaxonal region [GO:0035749]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; perinuclear region of cytoplasm [GO:0048471]; plasma membrane [GO:0005886]; pseudopodium [GO:0031143]; 2',3'-cyclic-nucleotide 3'-phosphodiesterase activity [GO:0004113]; cyclic nucleotide binding [GO:0030551]; RNA binding [GO:0003723]; adult locomotory behavior [GO:0008344]; aging [GO:0007568]; axonogenesis [GO:0007409]; chemical synaptic transmission [GO:0007268]; cyclic nucleotide catabolic process [GO:0009214]; forebrain development [GO:0030900]; microtubule cytoskeleton organization [GO:0000226]; oligodendrocyte differentiation [GO:0048709]; regulation of mitochondrial membrane permeability [GO:0046902]; response to lipopolysaccharide [GO:0032496]; response to toxic substance [GO:0009636]; substantia nigra development [GO:0021762]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=CNPII; Synonyms=DNAII; IsoId=P09543-1; Sequence=Displayed; Name=CNPI; Synonyms=DNAI; IsoId=P09543-2; Sequence=VSP_004171; 

location:
SUBCELLULAR LOCATION: Membrane; Lipid-anchor. Melanosome. Note=Firmly bound to membrane structures of brain white matter. Identified by mass spectrometry in melanosome fractions from stage I to stage IV.


uniprotID: Q8NA66
geneSymbol: CNBD1
name: Cyclic nucleotide-binding domain-containing protein 1
length: 436
go: ENSG00000176571;
snps: rs10504829 rs16894901 rs60556175
sequence:


uniprotID: Q96M20
geneSymbol: CNBD2
name: Cyclic nucleotide-binding domain-containing protein 2
length: 576
go: ENSG00000149646;
opentargets: cytosol [GO:0005829]; cAMP binding [GO:0030552]; spermatogenesis [GO:0007283]
snps: rs17347958 rs6142471 rs6060750
location: SUBCELLULAR LOCATION: Cytoplasm, cytosol {ECO:0000250|UniProtKB:Q9D5U8}.
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q96M20-1; Sequence=Displayed; Name=2; IsoId=Q96M20-2; Sequence=VSP_039149; Name=3; IsoId=Q96M20-3; Sequence=VSP_043858; 


uniprotID: P38398
geneSymbol: BRCA1
length: 1863
go: ENSG00000012048;
reactome:
R-HSA-1221632;R-HSA-3108214;R-HSA-5685938;R-HSA-5685942;R-HSA-5689901;R-HSA-5693554;R-HSA-5693565;R-HSA-5693568;R-HSA-5693571;R-HSA-5693579;R-HSA-5693607;R-HSA-5693616;R-HSA-6796648;R-HSA-6804756;R-HSA-69473;R-HSA-8953750;R-HSA-912446;

pdb:
1JM7;1JNX;1N5O;1OQA;1T15;1T29;1T2U;1T2V;1Y98;2ING;3COJ;3K0H;3K0K;3K15;3K16;3PXA;3PXB;3PXC;3PXD;3PXE;4IFI;4IGK;4JLU;4OFB;4U4A;4Y18;4Y2G;6G2I;

name:
Breast cancer type 1 susceptibility protein (EC 2.3.2.27) (RING finger protein 53) (RING-type E3 ubiquitin transferase BRCA1)

sequence:

opentargets:
BRCA1-A complex [GO:0070531]; BRCA1-BARD1 complex [GO:0031436]; chromosome [GO:0005694]; cytoplasm [GO:0005737]; gamma-tubulin ring complex [GO:0008274]; lateral element [GO:0000800]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; plasma membrane [GO:0005886]; protein-containing complex [GO:0032991]; ribonucleoprotein complex [GO:1990904]; ubiquitin ligase complex [GO:0000151]; androgen receptor binding [GO:0050681]; damaged DNA binding [GO:0003684]; DNA binding [GO:0003677]; enzyme binding [GO:0019899]; identical protein binding [GO:0042802]; RNA binding [GO:0003723]; RNA polymerase binding [GO:0070063]; transcription coactivator activity [GO:0003713]; transcription regulatory region DNA binding [GO:0044212]; tubulin binding [GO:0015631]; ubiquitin protein ligase binding [GO:0031625]; ubiquitin-protein transferase activity [GO:0004842]; zinc ion binding [GO:0008270]; androgen receptor signaling pathway [GO:0030521]; apoptotic process [GO:0006915]; cellular response to DNA damage stimulus [GO:0006974]; cellular response to indole-3-methanol [GO:0071681]; cellular response to tumor necrosis factor [GO:0071356]; centrosome cycle [GO:0007098]; chordate embryonic development [GO:0043009]; chromosome segregation [GO:0007059]; DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator [GO:0006978]; DNA double-strand break processing [GO:0000729]; DNA replication [GO:0006260]; dosage compensation by inactivation of X chromosome [GO:0009048]; double-strand break repair [GO:0006302]; double-strand break repair via homologous recombination [GO:0000724]; double-strand break repair via nonhomologous end joining [GO:0006303]; fatty acid biosynthetic process [GO:0006633]; intrinsic apoptotic signaling pathway in response to DNA damage [GO:0008630]; mitotic G2/M transition checkpoint [GO:0044818]; negative regulation of centriole replication [GO:0046600]; negative regulation of extrinsic apoptotic signaling pathway via death domain receptors [GO:1902042]; negative regulation of fatty acid biosynthetic process [GO:0045717]; negative regulation of G0 to G1 transition [GO:0070317]; negative regulation of histone acetylation [GO:0035067]; negative regulation of histone H3-K4 methylation [GO:0051572]; negative regulation of histone H3-K9 methylation [GO:0051573]; negative regulation of intracellular estrogen receptor signaling pathway [GO:0033147]; negative regulation of reactive oxygen species metabolic process [GO:2000378]; negative regulation of transcription, DNA-templated [GO:0045892]; positive regulation of angiogenesis [GO:0045766]; positive regulation of cell cycle arrest [GO:0071158]; positive regulation of DNA repair [GO:0045739]; positive regulation of gene expression [GO:0010628]; positive regulation of histone acetylation [GO:0035066]; positive regulation of histone H3-K4 methylation [GO:0051571]; positive regulation of histone H3-K9 acetylation [GO:2000617]; positive regulation of histone H3-K9 methylation [GO:0051574]; positive regulation of histone H4-K16 acetylation [GO:2000620]; positive regulation of histone H4-K20 methylation [GO:0070512]; positive regulation of protein ubiquitination [GO:0031398]; positive regulation of transcription by RNA polymerase II [GO:0045944]; positive regulation of transcription, DNA-templated [GO:0045893]; positive regulation of vascular endothelial growth factor production [GO:0010575]; postreplication repair [GO:0006301]; protein autoubiquitination [GO:0051865]; protein deubiquitination [GO:0016579]; protein K6-linked ubiquitination [GO:0085020]; protein ubiquitination [GO:0016567]; regulation of apoptotic process [GO:0042981]; regulation of cell proliferation [GO:0042127]; regulation of DNA methylation [GO:0044030]; regulation of gene expression by genetic imprinting [GO:0006349]; regulation of transcription by RNA polymerase II [GO:0006357]; regulation of transcription by RNA polymerase III [GO:0006359]; response to estrogen [GO:0043627]; response to ionizing radiation [GO:0010212]; signal transduction involved in G2 DNA damage checkpoint [GO:0072425]

snps:
rs786203152 rs80357017 rs80356929 rs80357406 rs80357438 rs769650474 rs28897672 rs80357064 rs55851803 rs80357102 rs80356913 rs28897673 rs80357413 rs55971303 rs748876625 rs28897674 rs80357325 rs55688530 rs80357090 rs80357001 rs80357396 rs80356865 rs28897675 rs80357244 rs80357244 rs8176153 rs80357015 rs1799950 rs56128296 rs56046357 rs397508869 rs80357224 rs397508893 rs80357250 rs4986850 rs28897681 rs4986845 rs80357114 rs80357467 rs876660005 rs28897682 rs56082113 rs28897683 rs751656678 rs80357337 rs1800709 rs80356892 rs41286300 rs799917 rs80357480 rs397508994 rs4986847 rs397509022 rs4986848 rs1800704 rs397509034 rs16941 rs4986852 rs397509037 rs80357184 rs41293447 rs80357228 rs2227945 rs80357272 rs16942 rs56214134 rs1060502347 rs80356923 rs80356876 rs28897687 rs28897686 rs587782190 rs80357217 rs273900719 rs80357407 rs28897689 rs28897690 rs80357306 rs1800707 rs80357492 rs273900729 rs41293455 rs4986849 rs80357486 rs397507232 rs80357389 rs1800744 rs55815649 rs56158747 rs80356943 rs1799966 rs8176219 rs80356862 rs4986854 rs80357465 rs80357048 rs1800726 rs80356938 rs879254042 rs1799967 rs80357390 rs28897695 rs80357169 rs80356890 rs80357043 rs397509218 rs730882166 rs80357061 rs397507239 rs80357034 rs80187739 rs80356993 rs41293459 rs55770810 rs80356860 rs80356860 rs28897696 rs80357094 rs80357239 rs56195342 rs397509238 rs45553935 rs80356937 rs80357227 rs80357227 rs786202389 rs80357462 rs397509246 rs80357281 rs80357463 rs41293463 rs41293463 rs1800757 rs80357474 rs398122697 rs80357069 rs80357078 rs397509275 rs80356920 rs1800751 rs80356959 rs80357183 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing, Alternative initiation; Named isoforms=8;  Name=1; IsoId=P38398-1; Sequence=Displayed; Name=2; IsoId=P38398-2; Sequence=VSP_047891; 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; Synonyms=Delta11b; IsoId=P38398-3; Sequence=VSP_035399, VSP_043797; Name=4; Synonyms=DeltaBRCA1(17aa); IsoId=P38398-4; Sequence=VSP_035396; Note=Produced by alternative initiation at Met-18 of isoform 1.; Name=5; Synonyms=Delta11, Delta772-3095; IsoId=P38398-5; Sequence=VSP_035398; Name=6; IsoId=P38398-6; Sequence=VSP_035399, VSP_043797, VSP_043798; Note=No experimental confirmation available.; Name=7; IsoId=P38398-7; Sequence=VSP_055404; Note=No experimental confirmation available. {ECO:0000305}; Name=8; IsoId=P38398-8; Sequence=VSP_057569; Note=No experimental confirmation available. The N-terminus is confirmed by several cDNAs. {ECO:0000305}; 

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:15133502, ECO:0000269|PubMed:17525340, ECO:0000269|PubMed:20160719, ECO:0000269|PubMed:21144835, ECO:0000269|PubMed:26778126, ECO:0000269|PubMed:9528852}. Chromosome {ECO:0000269|PubMed:23269703, ECO:0000269|PubMed:25472942, ECO:0000269|PubMed:26778126}. Cytoplasm {ECO:0000269|PubMed:20160719}. Note=Localizes at sites of DNA damage at double-strand breaks (DSBs); recruitment to DNA damage sites is mediated by ABRAXAS1 and the BRCA1-A complex (PubMed:26778126). Translocated to the cytoplasm during UV-induced apoptosis (PubMed:20160719). {ECO:0000269|PubMed:20160719, ECO:0000269|PubMed:26778126}.; SUBCELLULAR LOCATION: Isoform 3: Cytoplasm.; SUBCELLULAR LOCATION: Isoform 5: Cytoplasm {ECO:0000269|PubMed:8972225}.


uniprotID: P46736
geneSymbol: BRCC3
reactome: R-HSA-5689901;R-HSA-5693565;R-HSA-5693571;R-HSA-5693607;R-HSA-69473;
length: 316
go: ENSG00000185515;
snps: rs28997578
name:
Lys-63-specific deubiquitinase BRCC36 (EC 3.4.19.-) (BRCA1-A complex subunit BRCC36) (BRCA1/BRCA2-containing complex subunit 3) (BRCA1/BRCA2-containing complex subunit 36) (BRISC complex subunit BRCC36)

sequence:

opentargets:
BRCA1-A complex [GO:0070531]; BRISC complex [GO:0070552]; cytoplasm [GO:0005737]; cytosol [GO:0005829]; nuclear ubiquitin ligase complex [GO:0000152]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; spindle pole [GO:0000922]; ubiquitin ligase complex [GO:0000151]; enzyme regulator activity [GO:0030234]; Lys63-specific deubiquitinase activity [GO:0061578]; metal ion binding [GO:0046872]; metallopeptidase activity [GO:0008237]; polyubiquitin modification-dependent protein binding [GO:0031593]; thiol-dependent ubiquitin-specific protease activity [GO:0004843]; thiol-dependent ubiquitinyl hydrolase activity [GO:0036459]; cell cycle [GO:0007049]; cell division [GO:0051301]; DNA repair [GO:0006281]; double-strand break repair [GO:0006302]; double-strand break repair via nonhomologous end joining [GO:0006303]; histone H2A K63-linked deubiquitination [GO:0070537]; positive regulation of DNA repair [GO:0045739]; protein deubiquitination [GO:0016579]; protein K63-linked deubiquitination [GO:0070536]; response to ionizing radiation [GO:0010212]; response to X-ray [GO:0010165]; signal transduction involved in G2 DNA damage checkpoint [GO:0072425]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=5;  Name=2; IsoId=P46736-1; Sequence=Displayed; Name=1; IsoId=P46736-2; Sequence=VSP_003261; Name=3; IsoId=P46736-3; Sequence=VSP_037258, VSP_003261; Name=4; IsoId=P46736-4; Sequence=VSP_037257; Note=No experimental confirmation available.; Name=5; IsoId=P46736-5; Sequence=VSP_037259; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:18077395, ECO:0000269|PubMed:19202061, ECO:0000269|PubMed:19261748, ECO:0000269|PubMed:19261749, ECO:0000269|PubMed:20656690, ECO:0000269|PubMed:24075985, ECO:0000269|PubMed:26344097}. Cytoplasm {ECO:0000269|PubMed:20656690, ECO:0000269|PubMed:24075985}. Cytoplasm, cytoskeleton, spindle pole {ECO:0000305|PubMed:26195665}. Note=Localizes at sites of DNA damage at double-strand breaks (DSBs) (PubMed:20656690, PubMed:26344097). Interaction with ABRAXAS2 retains BRCC3 in the cytoplasm (PubMed:20656690). {ECO:0000269|PubMed:20656690, ECO:0000269|PubMed:26344097}.


uniprotID: Q9HCU9
geneSymbol: BRMS1
reactome: R-HSA-3214815;
pdb: 2XUS;4AUV;
name: Breast cancer metastasis-suppressor 1
length: 246
go: ENSG00000174744;
location: SUBCELLULAR LOCATION: Nucleus. Cytoplasm. Note=Predominantly nuclear.
sequence:

opentargets:
cytoplasm [GO:0005737]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; Sin3-type complex [GO:0070822]; histone deacetylase activity [GO:0004407]; histone deacetylase binding [GO:0042826]; NF-kappaB binding [GO:0051059]; apoptotic process [GO:0006915]; histone deacetylation [GO:0016575]; negative regulation of NF-kappaB transcription factor activity [GO:0032088]; negative regulation of transcription by RNA polymerase II [GO:0000122]; negative regulation of transcription, DNA-templated [GO:0045892]; positive regulation of anoikis [GO:2000210]; positive regulation of protein deacetylation [GO:0090312]; regulation of apoptotic process [GO:0042981]


uniprotID: Q9Y2B0
geneSymbol: CNPY2
length: 182
go: ENSG00000257727;
location: SUBCELLULAR LOCATION: Endoplasmic reticulum {ECO:0000255|PROSITE-ProRule:PRU10138}.
name:
Protein canopy homolog 2 (MIR-interacting saposin-like protein) (Putative secreted protein Zsig9) (Transmembrane protein 4)

sequence:
MKGWGWLALLLGALLGTAWARRSQDLHCGACRALVDELEWEIAQVDPKKTIQMGSFRINPDGSQSVVEVPYARSEAHLTELLEEICDRMKEYGEQIDPSTHRKNYVRVVGRNGESSELDLQGIRIDSDISGTLKFACESIVEEYEDELIEFFSREADNVKDKLCSKRTDLCDHALHISHDEL

opentargets:
endoplasmic reticulum [GO:0005783]; negative regulation of gene expression [GO:0010629]; positive regulation of low-density lipoprotein particle receptor biosynthetic process [GO:0045716]; regulation of low-density lipoprotein particle clearance [GO:0010988]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9Y2B0-1; Sequence=Displayed; Name=2; IsoId=Q9Y2B0-2; Sequence=VSP_010884, VSP_010885; 


uniprotID: Q9C0B6
geneSymbol: BRINP2
name: BMP/retinoic acid-inducible neural-specific protein 2 (DBCCR1-like protein 2)
length: 783
go: ENSG00000198797;
snps: rs16850984 rs3176443
location: SUBCELLULAR LOCATION: Secreted {ECO:0000305}.
sequence:

opentargets:
dendrite [GO:0030425]; endoplasmic reticulum [GO:0005783]; extracellular region [GO:0005576]; neuronal cell body [GO:0043025]; cell cycle arrest [GO:0007050]; cellular response to retinoic acid [GO:0071300]; negative regulation of mitotic cell cycle [GO:0045930]; positive regulation of neuron differentiation [GO:0045666]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9C0B6-1; Sequence=Displayed; Name=2; IsoId=Q9C0B6-2; Sequence=VSP_017026; Note=No experimental confirmation available.; 


uniprotID: Q8N129
geneSymbol: CNPY4
name: Protein canopy homolog 4
length: 248
go: ENSG00000166997;
snps: rs60551236
location: SUBCELLULAR LOCATION: Secreted {ECO:0000305}.
sequence:

opentargets:
extracellular region [GO:0005576]; signaling receptor binding [GO:0005102]; positive regulation of protein localization to plasma membrane [GO:1903078]


uniprotID: P21554
geneSymbol: CNR1
reactome: R-HSA-373076;R-HSA-418594;
pdb: 1LVQ;1LVR;2B0Y;2KOE;2MZ2;2MZ3;2MZA;5TGZ;5U09;5XR8;5XRA;
name: Cannabinoid receptor 1 (CB-R) (CB1) (CANN6)
length: 472
go: ENSG00000118432;
drug: DB05750;DB05372;DB00470;DB00486;DB06155;DB05077;DB05201;
sequence:

opentargets:
GABA-ergic synapse [GO:0098982]; glutamatergic synapse [GO:0098978]; growth cone [GO:0030426]; integral component of mitochondrial membrane [GO:0032592]; integral component of plasma membrane [GO:0005887]; integral component of presynaptic membrane [GO:0099056]; membrane raft [GO:0045121]; mitochondrial outer membrane [GO:0005741]; plasma membrane [GO:0005886]; cannabinoid receptor activity [GO:0004949]; drug binding [GO:0008144]; voltage-gated calcium channel activity involved in positive regulation of presynaptic cytosolic calcium levels [GO:0099635]; adenylate cyclase-modulating G protein-coupled receptor signaling pathway [GO:0007188]; aging [GO:0007568]; axonal fasciculation [GO:0007413]; cannabinoid signaling pathway [GO:0038171]; G protein-coupled receptor signaling pathway [GO:0007186]; G protein-coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger [GO:0007187]; glucose homeostasis [GO:0042593]; maternal process involved in female pregnancy [GO:0060135]; memory [GO:0007613]; negative regulation of action potential [GO:0045759]; negative regulation of blood pressure [GO:0045776]; negative regulation of dopamine secretion [GO:0033602]; negative regulation of fatty acid beta-oxidation [GO:0031999]; negative regulation of mast cell activation [GO:0033004]; negative regulation of nitric-oxide synthase activity [GO:0051001]; positive regulation of acute inflammatory response to antigenic stimulus [GO:0002866]; positive regulation of apoptotic process [GO:0043065]; positive regulation of blood pressure [GO:0045777]; positive regulation of fever generation [GO:0031622]; positive regulation of neuron projection development [GO:0010976]; regulation of feeding behavior [GO:0060259]; regulation of insulin secretion [GO:0050796]; regulation of penile erection [GO:0060405]; regulation of synaptic transmission, GABAergic [GO:0032228]; regulation of synaptic transmission, glutamatergic [GO:0051966]; response to cocaine [GO:0042220]; response to ethanol [GO:0045471]; response to lipopolysaccharide [GO:0032496]; response to morphine [GO:0043278]; response to nicotine [GO:0035094]; response to nutrient [GO:0007584]; retrograde trans-synaptic signaling by endocannabinoid [GO:0098921]; sensory perception of pain [GO:0019233]; spermatogenesis [GO:0007283]; trans-synaptic signaling by endocannabinoid, modulating synaptic transmission [GO:0099553]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; Synonyms=Long; IsoId=P21554-1; Sequence=Displayed; Name=2; Synonyms=CB1a {ECO:0000303|PubMed:15620723}, Short; IsoId=P21554-2; Sequence=VSP_001868; Note=Dubious isoform. A putative downstream initiation AUG is used to produce isoform 2 (Ref.2). The use of the first AUG (same as isoform 1) gives a truncated protein of 36 AA. {ECO:0000305|PubMed:1718258}; Name=3; Synonyms=CB1b {ECO:0000303|PubMed:15620723}; IsoId=P21554-3; Sequence=VSP_016529; 

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:21895628}; Multi-pass membrane protein {ECO:0000269|PubMed:27768894, ECO:0000269|PubMed:27851727}. Membrane raft {ECO:0000269|PubMed:21895628}. Mitochondrion outer membrane {ECO:0000250|UniProtKB:P47746}. Cell projection, axon {ECO:0000250|UniProtKB:P20272}. Note=Unexpectedly, in the mitochondria, the C-terminus is located in the mitochondrial intermembrane space, a compartment topologically considered as extracellular. In canonical seven-transmembrane G-protein coupled receptors, the C-terminus is cytosolic (By similarity). Found on presynaptic axon terminals in some GABAergic neurons in the somatosensory cortex (By similarity). {ECO:0000250|UniProtKB:P20272, ECO:0000250|UniProtKB:P47746}.


uniprotID: Q5VW32
geneSymbol: BROX
pdb: 3R9M;3ULY;3UM0;3UM1;3UM2;3UM3;3ZXP;
name: BRO1 domain-containing protein BROX (BRO1 domain- and CAAX motif-containing protein)
length: 411
go: ENSG00000162819;
opentargets: extracellular exosome [GO:0070062]; membrane [GO:0016020]
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Lipid-anchor {ECO:0000305}.
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q5VW32-1; Sequence=Displayed; Name=2; IsoId=Q5VW32-2; Sequence=VSP_055551; Note=No experimental confirmation available.; 


uniprotID: P55201
geneSymbol: BRPF1
reactome: R-HSA-3214847;R-HSA-6804758;
name: Peregrin (Bromodomain and PHD finger-containing protein 1) (Protein Br140)
length: 1214
go: ENSG00000156983;
snps: rs1057519509 rs1057519515 rs1042294 rs36081837
pdb:
2D9E;2RS9;2X35;2X4W;2X4X;2X4Y;3L42;3MO8;4LC2;4QYD;4QYL;4UYE;5C6S;5C7N;5C85;5C87;5C89;5D7X;5DY7;5DYA;5DYC;5E3D;5E3G;5EM3;5EPR;5EPS;5EQ1;5ERC;5ETB;5ETD;5EV9;5EVA;5EWC;5EWD;5EWH;5EWV;5EWW;5FFV;5FFW;5FFY;5FG4;5FG5;5G4R;5G4S;5MWG;5MWH;5MWZ;5MYG;5O4S;5O4T;5O55;5O5A;5O5F;5O5H;5OV8;5OWA;5OWB;5T4U;5T4V;6EKQ;

sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; MOZ/MORF histone acetyltransferase complex [GO:0070776]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; plasma membrane [GO:0005886]; DNA binding [GO:0003677]; metal ion binding [GO:0046872]; histone H3 acetylation [GO:0043966]; histone H3-K23 acetylation [GO:0043972]; positive regulation of transcription, DNA-templated [GO:0045893]; regulation of signal transduction by p53 class mediator [GO:1901796]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=P55201-1; Sequence=Displayed; Name=2; IsoId=P55201-2; Sequence=VSP_037955; Name=3; IsoId=P55201-3; Sequence=VSP_037956; Note=No experimental confirmation available.; Name=4; IsoId=P55201-4; Sequence=VSP_037957; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:18794358, ECO:0000269|PubMed:27939640}. Cytoplasm {ECO:0000269|PubMed:18794358, ECO:0000269|PubMed:27939640}. Note=Localization to the nucleus depends on KAT6A, ING5 and MEAF6. {ECO:0000269|PubMed:18794358, ECO:0000269|PubMed:27939640}.


uniprotID: Q6RI45
geneSymbol: BRWD3
name: Bromodomain and WD repeat-containing protein 3
length: 1802
go: ENSG00000165288;
snps: rs3122407 rs137853272
sequence:

opentargets:
nucleus [GO:0005634]; cytoskeleton organization [GO:0007010]; regulation of cell shape [GO:0008360]; regulation of transcription by RNA polymerase II [GO:0006357]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=5;  Name=1; Synonyms=BRWD3-A; IsoId=Q6RI45-1; Sequence=Displayed; Name=2; Synonyms=BRWD3-B; IsoId=Q6RI45-2; Sequence=VSP_024305; Name=3; Synonyms=BRWD3-C, BRWD3-D, BRWD3-E, BRWD3-F, BRWD3-G, BRWD3-L, BRWD3-M, BRWD3-N, BRWD3-O; IsoId=Q6RI45-3; Sequence=VSP_024303; Name=4; Synonyms=BRWD3-H, BRWD3-I, BRWD3-K, BRWD3-P; IsoId=Q6RI45-4; Sequence=VSP_024304; Name=5; IsoId=Q6RI45-5; Sequence=VSP_024306, VSP_024307; Note=No experimental confirmation available.; 


uniprotID: Q8TDN6
geneSymbol: BRIX1
name: Ribosome biogenesis protein BRX1 homolog (Brix domain-containing protein 2)
length: 353
go: ENSG00000113460;
location: SUBCELLULAR LOCATION: Nucleus, nucleolus.
sequence:

opentargets:
nucleolus [GO:0005730]; nucleus [GO:0005634]; RNA binding [GO:0003723]; ribosomal large subunit assembly [GO:0000027]


uniprotID: Q96NU0
geneSymbol: CNTNAP3B
name: Contactin-associated protein-like 3B (Cell recognition molecule Caspr3b)
length: 1288
go: ENSG00000154529;
opentargets: integral component of membrane [GO:0016021]; cell adhesion [GO:0007155]
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Single-pass type I membrane protein {ECO:0000305}.
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q96NU0-1; Sequence=Displayed; Note=No experimental confirmation available. Gene prediction based on EST data. {ECO:0000305}; Name=2; IsoId=Q96NU0-2; Sequence=VSP_034153, VSP_034154, VSP_034155, VSP_034156; 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. {ECO:0000305}; 


uniprotID: P26992
geneSymbol: CNTFR
reactome: R-HSA-6788467;
pdb: 1UC6;
name: Ciliary neurotrophic factor receptor subunit alpha (CNTF receptor subunit alpha) (CNTFR-alpha)
length: 372
go: ENSG00000122756;
location: SUBCELLULAR LOCATION: Cell membrane; Lipid-anchor, GPI-anchor.
sequence:

opentargets:
anchored component of membrane [GO:0031225]; apical plasma membrane [GO:0016324]; ciliary neurotrophic factor receptor complex [GO:0070110]; CNTFR-CLCF1 complex [GO:0097059]; external side of plasma membrane [GO:0009897]; extrinsic component of membrane [GO:0019898]; plasma membrane [GO:0005886]; receptor complex [GO:0043235]; ciliary neurotrophic factor receptor activity [GO:0004897]; cytokine binding [GO:0019955]; cytokine receptor activity [GO:0004896]; interleukin-27 receptor binding [GO:0045523]; signaling receptor binding [GO:0005102]; brainstem development [GO:0003360]; ciliary neurotrophic factor-mediated signaling pathway [GO:0070120]; cytokine-mediated signaling pathway [GO:0019221]; negative regulation of neuron apoptotic process [GO:0043524]; nervous system development [GO:0007399]; positive regulation of cell proliferation [GO:0008284]; sex differentiation [GO:0007548]; signal transduction [GO:0007165]; skeletal muscle organ development [GO:0060538]; suckling behavior [GO:0001967]


uniprotID: P26441
geneSymbol: CNTF
reactome: R-HSA-6788467;
pdb: 1CNT;
name: Ciliary neurotrophic factor (CNTF)
length: 200
go: ENSG00000242689;
snps: rs17152779 rs6266
location: SUBCELLULAR LOCATION: Cytoplasm.
sequence:

opentargets:
axon [GO:0030424]; cytoplasm [GO:0005737]; extracellular region [GO:0005576]; extracellular space [GO:0005615]; ciliary neurotrophic factor receptor binding [GO:0005127]; cytokine activity [GO:0005125]; growth factor activity [GO:0008083]; interleukin-6 receptor binding [GO:0005138]; protein-containing complex binding [GO:0044877]; astrocyte activation [GO:0048143]; ciliary neurotrophic factor-mediated signaling pathway [GO:0070120]; cytokine-mediated signaling pathway [GO:0019221]; muscle organ morphogenesis [GO:0048644]; negative regulation of neuron apoptotic process [GO:0043524]; negative regulation of photoreceptor cell differentiation [GO:0046533]; neuron development [GO:0048666]; positive regulation of axon regeneration [GO:0048680]; positive regulation of cell proliferation [GO:0008284]; positive regulation of gene expression [GO:0010628]; positive regulation of tyrosine phosphorylation of STAT protein [GO:0042531]; regulation of retinal cell programmed cell death [GO:0046668]; signal transduction [GO:0007165]


uniprotID: Q12860
geneSymbol: CNTN1
reactome: R-HSA-2122948;R-HSA-2979096;R-HSA-373760;R-HSA-447043;
pdb: 2EE2;3S97;
name: Contactin-1 (Glycoprotein gp135) (Neural cell surface protein F3)
length: 1018
go: ENSG00000018236;
snps: rs1056020 rs11553341
sequence:

opentargets:
anchored component of postsynaptic membrane [GO:0099025]; anchored component of presynaptic membrane [GO:0099026]; extracellular exosome [GO:0070062]; membrane [GO:0016020]; membrane raft [GO:0045121]; myelin sheath [GO:0043209]; carbohydrate binding [GO:0030246]; cell adhesion [GO:0007155]; cerebellum development [GO:0021549]; neuron projection development [GO:0031175]; Notch signaling pathway [GO:0007219]; positive regulation of gene expression [GO:0010628]; positive regulation of neuron projection development [GO:0010976]; positive regulation of peptidyl-tyrosine phosphorylation [GO:0050731]; positive regulation of sodium ion transport [GO:0010765]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q12860-1; Sequence=Displayed; Name=2; IsoId=Q12860-2; Sequence=VSP_002500; Name=3; IsoId=Q12860-3; Sequence=VSP_011959, VSP_011960; 

location:
SUBCELLULAR LOCATION: Isoform 1: Cell membrane; Lipid-anchor, GPI-anchor; Extracellular side.; SUBCELLULAR LOCATION: Isoform 2: Cell membrane; Lipid-anchor, GPI-anchor; Extracellular side.


uniprotID: Q02246
geneSymbol: CNTN2
reactome: R-HSA-373760;R-HSA-419037;R-HSA-447038;
pdb: 2OM5;
name: Contactin-2 (Axonal glycoprotein TAG-1) (Axonin-1) (Transient axonal glycoprotein 1) (TAX-1)
length: 1040
go: ENSG00000184144;
snps: rs2275697 rs2229866 rs2305276 rs17416074
sequence:

opentargets:
anchored component of postsynaptic membrane [GO:0099025]; axon [GO:0030424]; cell surface [GO:0009986]; juxtaparanode region of axon [GO:0044224]; myelin sheath [GO:0043209]; neuronal cell body [GO:0043025]; node of Ranvier [GO:0033268]; plasma membrane [GO:0005886]; synapse [GO:0045202]; voltage-gated potassium channel complex [GO:0008076]; carbohydrate binding [GO:0030246]; cell-cell adhesion mediator activity [GO:0098632]; identical protein binding [GO:0042802]; protein self-association [GO:0043621]; adult walking behavior [GO:0007628]; axon guidance [GO:0007411]; axonal fasciculation [GO:0007413]; cell adhesion [GO:0007155]; central nervous system myelination [GO:0022010]; cerebral cortex GABAergic interneuron migration [GO:0021853]; clustering of voltage-gated potassium channels [GO:0045163]; dendrite self-avoidance [GO:0070593]; establishment of protein localization to juxtaparanode region of axon [GO:0071206]; homophilic cell adhesion via plasma membrane adhesion molecules [GO:0007156]; learning [GO:0007612]; microtubule cytoskeleton organization [GO:0000226]; negative regulation of neuron differentiation [GO:0045665]; positive regulation of adenosine receptor signaling pathway [GO:0060168]; positive regulation of protein processing [GO:0010954]; presynaptic membrane organization [GO:0097090]; protein localization to juxtaparanode region of axon [GO:0071205]; receptor internalization [GO:0031623]; regulation of astrocyte differentiation [GO:0048710]; regulation of axon diameter [GO:0031133]; regulation of neuronal synaptic plasticity [GO:0048168]

location:
SUBCELLULAR LOCATION: Cell membrane; Lipid-anchor, GPI-anchor. Note=Attached to the neuronal membrane by a GPI-anchor and is also released from neurons.


uniprotID: Q9UQ52
geneSymbol: CNTN6
reactome: R-HSA-447041;
name: Contactin-6 (Neural recognition molecule NB-3) (hNB-3)
length: 1028
go: ENSG00000134115;
snps: rs6808056 rs41293401 rs774763830 rs265771
location: SUBCELLULAR LOCATION: Cell membrane {ECO:0000250}; Lipid-anchor, GPI-anchor {ECO:0000250}.
sequence:

opentargets:
anchored component of presynaptic membrane [GO:0099026]; axon [GO:0030424]; parallel fiber to Purkinje cell synapse [GO:0098688]; plasma membrane [GO:0005886]; cell-cell adhesion mediator activity [GO:0098632]; Notch binding [GO:0005112]; axon guidance [GO:0007411]; cell adhesion [GO:0007155]; central nervous system development [GO:0007417]; dendrite self-avoidance [GO:0070593]; homophilic cell adhesion via plasma membrane adhesion molecules [GO:0007156]; Notch signaling pathway [GO:0007219]; positive regulation of Notch signaling pathway [GO:0045747]


uniprotID: P78357
geneSymbol: CNTNAP1
reactome: R-HSA-447043;
name: Contactin-associated protein 1 (Caspr) (Caspr1) (Neurexin IV) (Neurexin-4) (p190)
length: 1384
go: ENSG00000108797;
snps: rs768554986 rs779027563 rs35437096 rs761805324
sequence:

opentargets:
integral component of membrane [GO:0016021]; integral component of plasma membrane [GO:0005887]; myelin sheath [GO:0043209]; paranodal junction [GO:0033010]; paranode region of axon [GO:0033270]; presynaptic active zone membrane [GO:0048787]; voltage-gated potassium channel complex [GO:0008076]; SH3 domain binding [GO:0017124]; SH3/SH2 adaptor activity [GO:0005070]; signaling receptor activity [GO:0038023]; cell adhesion [GO:0007155]; central nervous system myelination [GO:0022010]; cytoskeleton organization [GO:0007010]; myelination in peripheral nervous system [GO:0022011]; neuromuscular process controlling balance [GO:0050885]; neuromuscular process controlling posture [GO:0050884]; neuron projection morphogenesis [GO:0048812]; neuronal action potential propagation [GO:0019227]; paranodal junction assembly [GO:0030913]; protein localization to juxtaparanode region of axon [GO:0071205]; protein localization to paranode region of axon [GO:0002175]; signal transduction [GO:0007165]

location:
SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Single-pass type I membrane protein {ECO:0000305}. Cell junction, paranodal septate junction {ECO:0000250|UniProtKB:O54991}.


uniprotID: Q8WZ55
geneSymbol: BSND
reactome: R-HSA-2672351;
name: Barttin
length: 320
go: ENSG00000162399;
snps: rs74315288 rs74315285 rs74315287 rs34561376 rs74315289
sequence:

opentargets:
basolateral plasma membrane [GO:0016323]; cytoplasm [GO:0005737]; integral component of plasma membrane [GO:0005887]; plasma membrane [GO:0005886]; protein-containing complex [GO:0032991]; chloride channel regulator activity [GO:0017081]; voltage-gated chloride channel activity [GO:0005247]; ion transmembrane transport [GO:0034220]

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000250}; Multi-pass membrane protein {ECO:0000250}. Cytoplasm {ECO:0000250}. Note=A significant amount also observed intracellularly. Staining in membranes of the renal tubule and of potassium-secreting epithelia of the inner ear is basolateral (By similarity). {ECO:0000250}.


uniprotID: Q7Z7A1
geneSymbol: CNTRL
name: Centriolin (Centrosomal protein 1) (Centrosomal protein of 110 kDa) (Cep110)
length: 2325
go: ENSG00000119397;
snps: rs10818503 rs10818504 rs17292952 rs35342437
reactome:
R-HSA-1839117;R-HSA-2565942;R-HSA-380259;R-HSA-380270;R-HSA-380284;R-HSA-380320;R-HSA-5620912;R-HSA-5655302;R-HSA-8854518;

sequence:

opentargets:
centriolar subdistal appendage [GO:0120103]; centrosome [GO:0005813]; cytosol [GO:0005829]; Flemming body [GO:0090543]; membrane [GO:0016020]; protein tyrosine kinase activity [GO:0004713]; cell division [GO:0051301]; ciliary basal body-plasma membrane docking [GO:0097711]; G2/M transition of mitotic cell cycle [GO:0000086]; regulation of G2/M transition of mitotic cell cycle [GO:0010389]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=5;  Name=1; IsoId=Q7Z7A1-1; Sequence=Displayed; Name=2; IsoId=Q7Z7A1-2; Sequence=VSP_032048; Name=3; IsoId=Q7Z7A1-3; Sequence=VSP_032047; Name=4; IsoId=Q7Z7A1-4; Sequence=VSP_032046, VSP_032050; Note=No experimental confirmation available.; Name=5; IsoId=Q7Z7A1-5; Sequence=VSP_032049; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton, microtubule organizing center, centrosome {ECO:0000269|PubMed:10688839, ECO:0000269|PubMed:11956314, ECO:0000269|PubMed:12732615, ECO:0000269|PubMed:14654843}. Midbody, Midbody ring {ECO:0000269|PubMed:12732615, ECO:0000269|PubMed:16213214}.


uniprotID: Q075Z2
geneSymbol: BSPH1
length: 132
go: ENSG00000188334;
location: SUBCELLULAR LOCATION: Secreted {ECO:0000305}.
name:
Binder of sperm protein homolog 1 (Bovine seminal plasma protein homolog 1) (Bovine seminal plasma protein-like 1)

sequence:
MGSLMLLFVETTRNSSACIFPVILNELSSTVETITHFPEVTDGECVFPFHYKNGTYYDCIKSKARHKWCSLNKTYEGYWKFCSAEDFANCVFPFWYRRLIYWECTDDGEAFGKKWCSLTKNFNKDRIWKYCE

opentargets:
cell surface [GO:0009986]; extracellular region [GO:0005576]; heparin binding [GO:0008201]; single fertilization [GO:0007338]; sperm capacitation [GO:0048240]


uniprotID: Q5W0U4
geneSymbol: BSPRY
name: B box and SPRY domain-containing protein
length: 402
go: ENSG00000119411;
snps: rs34089316 rs818711 rs3088235
location: SUBCELLULAR LOCATION: Cytoplasm. Membrane {ECO:0000250}; Peripheral membrane protein {ECO:0000250}.
sequence:

opentargets:
cell leading edge [GO:0031252]; membrane [GO:0016020]; perinuclear region of cytoplasm [GO:0048471]; zinc ion binding [GO:0008270]; calcium ion transport [GO:0006816]; cellular response to leukemia inhibitory factor [GO:1990830]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q5W0U4-1; Sequence=Displayed; Name=2; IsoId=Q5W0U4-2; Sequence=VSP_019527, VSP_019528; Note=No experimental confirmation available.; 


uniprotID: Q9Y2V0
geneSymbol: C15orf41
name: Uncharacterized protein C15orf41 (Protein HH114)
length: 281
go: ENSG00000186073;
snps: rs3784678 rs587777101 rs587777100
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9Y2V0-1; Sequence=Displayed; Name=2; IsoId=Q9Y2V0-2; Sequence=VSP_022271; 


uniprotID: Q8NAA6
geneSymbol: C15orf53
name: Uncharacterized protein C15orf53
length: 179
go: ENSG00000175779;
snps: rs7165988 rs11857596
sequence:
MELQGAQEDLGISLSSPRRNHETRPGSKAKGRSSICLQASVWMAGGKLRLRASEHLTQGHQQELRDWNLGEDASLLFSKSPFGAGKLIQAPAHVFRQCWVQGNAWISCITKFDSKRSPEVASSPSYLTVPRRSPLPVFLRPSDRCVCGGCYLGKSTRRRACQSLLSDPLGVTFPTQTRP


uniprotID: Q8N8G6
geneSymbol: C15orf54
name: Putative uncharacterized protein C15orf54
length: 183
snps: rs11853050 rs16968547
sequence:
MEVKFITGKHGGRRPQRAEPQRICRALWLTPWPSLILKLLSWIILSNLFLHLRATHHMTELPLRFLYIALSEMTFREQTSHQIIQQMSLSNKLEQNQLYGEVINKETDNPVISSGLTLLFAQKPQSPGWKNMSSTKRVCTILADSCRAQAHAADRGERGHFGVQILHHFIEVFNVMAVRSNPF


uniprotID: A6NNL5
geneSymbol: C15orf61
name: Uncharacterized protein C15orf61
length: 157
go: ENSG00000189227;
opentargets: extracellular region [GO:0005576]
location: SUBCELLULAR LOCATION: Secreted {ECO:0000305}.
sequence:
MEALRRAHEVALRLLLCRPWASRAAARPKPSASEVLTRHLLQRRLPHWTSFCVPYSAVRNDQFGLSHFNWPVQGANYHVLRTGCFPFIKYHCSKAPWQDLARQNRFFTALKVVNLGIPTLLYGLGSWLFARVTETVHTSYGPITVYFLNKEDEGAMY


uniprotID: Q14201
geneSymbol: BTG3
name: Protein BTG3 (Abundant in neuroepithelium area protein) (BTG family member 3) (Protein Tob5)
length: 252
go: ENSG00000154640;
sequence:

opentargets:
cytoplasm [GO:0005737]; nucleus [GO:0005634]; negative regulation of cell proliferation [GO:0008285]; negative regulation of mitotic cell cycle [GO:0045930]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q14201-1; Sequence=Displayed; Name=2; IsoId=Q14201-2; Sequence=VSP_000578; 


uniprotID: Q14055
geneSymbol: COL9A2
pdb: 5CTD;5CTI;5CVA;5CVB;
name: Collagen alpha-2(IX) chain
length: 689
go: ENSG00000049089;
snps: rs2228565 rs2228564 rs137853213 rs2228567 rs3737821
location: SUBCELLULAR LOCATION: Secreted, extracellular space, extracellular matrix {ECO:0000250}.
sequence:

opentargets:
basement membrane [GO:0005604]; collagen type IX trimer [GO:0005594]; endoplasmic reticulum lumen [GO:0005788]; extracellular matrix [GO:0031012]; extracellular region [GO:0005576]; extracellular space [GO:0005615]; extracellular matrix structural constituent [GO:0005201]; extracellular matrix structural constituent conferring tensile strength [GO:0030020]; extracellular matrix organization [GO:0030198]; skeletal system development [GO:0001501]


uniprotID: Q9Y2R0
geneSymbol: COA3
length: 106
go: ENSG00000183978;
name:
Cytochrome c oxidase assembly factor 3 homolog, mitochondrial (Coiled-coil domain-containing protein 56) (Mitochondrial translation regulation assembly intermediate of cytochrome c oxidase protein of 12 kDa)

sequence:
MASSGAGDPLDSKRGEAPFAQRIDPTREKLTPEQLHSMRQAELAQWQKVLPRRRTRNIVTGLGIGALVLAIYGYTFYSISQERFLDELEDEAKAARARALARASGS

opentargets:
integral component of mitochondrial inner membrane [GO:0031305]; mitochondrion [GO:0005739]; mitochondrial respiratory chain complex IV assembly [GO:0033617]; positive regulation of mitochondrial translation [GO:0070131]

location:
SUBCELLULAR LOCATION: Mitochondrion inner membrane {ECO:0000269|PubMed:23260140}; Single-pass membrane protein {ECO:0000269|PubMed:23260140}.


uniprotID: Q7Z6A9
geneSymbol: BTLA
reactome: R-HSA-388841;
pdb: 2AW2;
name: B- and T-lymphocyte attenuator (B- and T-lymphocyte-associated protein) (CD antigen CD272)
length: 289
go: ENSG00000186265;
snps: rs16859633 rs2931761 rs9288952
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Single-pass type I membrane protein {ECO:0000305}.
sequence:

opentargets:
integral component of plasma membrane [GO:0005887]; plasma membrane [GO:0005886]; signaling receptor activity [GO:0038023]; adaptive immune response [GO:0002250]; immune response-regulating cell surface receptor signaling pathway [GO:0002768]; T cell costimulation [GO:0031295]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q7Z6A9-1; Sequence=Displayed; Name=2; IsoId=Q7Z6A9-2; Sequence=VSP_040305; 


uniprotID: P43155
geneSymbol: CRAT
reactome: R-HSA-389887;R-HSA-9033241;
pdb: 1NM8;1S5O;
length: 626
go: ENSG00000095321;
drug: DB02648;DB01992;DB00583;
snps: rs138665095 rs3118635 rs17459086
name:
Carnitine O-acetyltransferase (Carnitine acetylase) (EC 2.3.1.7) (Carnitine acetyltransferase) (CAT) (CrAT)

sequence:

opentargets:
cytosol [GO:0005829]; endoplasmic reticulum [GO:0005783]; mitochondrial inner membrane [GO:0005743]; mitochondrion [GO:0005739]; peroxisomal matrix [GO:0005782]; peroxisome [GO:0005777]; carnitine O-acetyltransferase activity [GO:0004092]; signaling receptor binding [GO:0005102]; carnitine metabolic process, CoA-linked [GO:0019254]; fatty acid beta-oxidation using acyl-CoA oxidase [GO:0033540]; protein targeting to peroxisome [GO:0006625]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; Synonyms=SM-1400; IsoId=P43155-1; Sequence=Displayed; Name=2; Synonyms=SM-1200; IsoId=P43155-2; Sequence=VSP_000792; Note=No experimental confirmation available.; Name=3; IsoId=P43155-3; Sequence=VSP_012798; 

location:
SUBCELLULAR LOCATION: Endoplasmic reticulum {ECO:0000305}. Peroxisome {ECO:0000305}. Mitochondrion inner membrane {ECO:0000305}; Peripheral membrane protein {ECO:0000305}; Matrix side {ECO:0000305}.; SUBCELLULAR LOCATION: Isoform 1: Mitochondrion {ECO:0000305}.; SUBCELLULAR LOCATION: Isoform 2: Peroxisome {ECO:0000305}.


uniprotID: P01258
geneSymbol: CALCA
reactome: R-HSA-418555;R-HSA-419812;R-HSA-977225;
pdb: 2JXZ;
length: 141
go: ENSG00000110680;
snps: rs34587547 rs5239 rs34164367 rs5241 rs34414857 rs13306224
location: SUBCELLULAR LOCATION: Secreted.
name:
Calcitonin [Cleaved into: Calcitonin; Katacalcin (Calcitonin carboxyl-terminal peptide) (CCP) (PDN-21)]

sequence:
MGFQKFSPFLALSILVLLQAGSLHAAPFRSALESSPADPATLSEDEARLLLAALVQDYVQMKASELEQEQEREGSSLDSPRSKRCGNLSTCMLGTYTQDFNKFHTFPQTAIGVGAPGKKRDMSSDLERDHRPHVSMPQNAN

opentargets:
cytoplasm [GO:0005737]; extracellular region [GO:0005576]; extracellular space [GO:0005615]; neuronal cell body [GO:0043025]; nucleus [GO:0005634]; terminal bouton [GO:0043195]; calcitonin receptor binding [GO:0031716]; hormone activity [GO:0005179]; identical protein binding [GO:0042802]; activation of adenylate cyclase activity [GO:0007190]; activation of protein kinase activity [GO:0032147]; adenylate cyclase-activating G protein-coupled receptor signaling pathway [GO:0007189]; aging [GO:0007568]; artery vasodilation involved in baroreceptor response to increased systemic arterial blood pressure [GO:0001984]; cellular protein metabolic process [GO:0044267]; cellular response to nerve growth factor stimulus [GO:1990090]; cellular response to tumor necrosis factor [GO:0071356]; detection of temperature stimulus involved in sensory perception of pain [GO:0050965]; embryo implantation [GO:0007566]; feeding behavior [GO:0007631]; G protein-coupled receptor signaling pathway [GO:0007186]; inflammatory response [GO:0006954]; monocyte chemotaxis [GO:0002548]; negative regulation of bone resorption [GO:0045779]; negative regulation of ossification [GO:0030279]; negative regulation of smooth muscle contraction [GO:0045986]; negative regulation of transcription, DNA-templated [GO:0045892]; neuropeptide signaling pathway [GO:0007218]; positive regulation of cytosolic calcium ion concentration [GO:0007204]; positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G protein-coupled signaling pathway [GO:0051482]; regulation of cytosolic calcium ion concentration [GO:0051480]; regulation of heart contraction [GO:0008016]; response to heat [GO:0009408]; response to pain [GO:0048265]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=P01258-1; Sequence=Displayed; Name=2; IsoId=P01258-2; Sequence=VSP_000709; 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=P06881-1; Sequence=External; 


uniprotID: Q9UJ99
geneSymbol: CDH22
name: Cadherin-22 (Pituitary and brain cadherin) (PB-cadherin)
length: 828
go: ENSG00000149654;
sequence:

opentargets:
catenin complex [GO:0016342]; cell surface [GO:0009986]; cell-cell adherens junction [GO:0005913]; integral component of membrane [GO:0016021]; plasma membrane [GO:0005886]; cadherin binding [GO:0045296]; calcium ion binding [GO:0005509]; cytoskeletal protein binding [GO:0008092]; protein homodimerization activity [GO:0042803]; adherens junction organization [GO:0034332]; brain development [GO:0007420]; calcium-dependent cell-cell adhesion via plasma membrane cell adhesion molecules [GO:0016339]; cell-cell adhesion [GO:0098609]; cell-cell adhesion mediated by cadherin [GO:0044331]; cell-cell junction assembly [GO:0007043]; homophilic cell adhesion via plasma membrane adhesion molecules [GO:0007156]


uniprotID: Q9ULU8
geneSymbol: CADPS
pdb: 1WI1;
length: 1353
go: ENSG00000163618;
name:
Calcium-dependent secretion activator 1 (Calcium-dependent activator protein for secretion 1) (CAPS-1)

sequence:

opentargets:
cell junction [GO:0030054]; cytoplasmic vesicle membrane [GO:0030659]; cytosol [GO:0005829]; presynapse [GO:0098793]; lipid binding [GO:0008289]; metal ion binding [GO:0046872]; protein kinase binding [GO:0019901]; dense core granule exocytosis [GO:1990504]; exocytosis [GO:0006887]; protein transport [GO:0015031]; synaptic vesicle exocytosis [GO:0016079]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=5;  Name=1; IsoId=Q9ULU8-1; Sequence=Displayed; Name=2; IsoId=Q9ULU8-2; Sequence=VSP_016803, VSP_016805, VSP_016806, VSP_016807; Name=3; IsoId=Q9ULU8-3; Sequence=VSP_016804, VSP_016806, VSP_016807; Note=No experimental confirmation available.; Name=4; IsoId=Q9ULU8-4; Sequence=VSP_016808; Name=5; IsoId=Q9ULU8-5; Sequence=VSP_016801, VSP_016802; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasmic vesicle membrane {ECO:0000250}; Peripheral membrane protein {ECO:0000250}; Cytoplasmic side {ECO:0000250}. Cell junction, synapse {ECO:0000250}. Note=Membrane-associated to vesicles. Strongly enriched in synaptic fractions. Preferentially binds to DCVs but not to SVs. Binds phosphoinosides, with a strong selectivity for PtdIns(4,5)P2 over PtdIns(3,4,5)P3. Probably localizes to different vesicles compared to CADPS2 (By similarity). {ECO:0000250}.


uniprotID: Q01518
geneSymbol: CAP1
reactome: R-HSA-114608;R-HSA-428890;R-HSA-6798695;
pdb: 1K8F;
name: Adenylyl cyclase-associated protein 1 (CAP 1)
length: 475
go: ENSG00000131236;
snps: rs11207440 rs6665926 rs6665933 rs6665936 rs6665937 rs6665944
location: SUBCELLULAR LOCATION: Cell membrane {ECO:0000250}; Peripheral membrane protein {ECO:0000250}.
sequence:

opentargets:
azurophil granule lumen [GO:0035578]; cortical actin cytoskeleton [GO:0030864]; extracellular exosome [GO:0070062]; extracellular region [GO:0005576]; focal adhesion [GO:0005925]; plasma membrane [GO:0005886]; actin binding [GO:0003779]; adenylate cyclase binding [GO:0008179]; actin polymerization or depolymerization [GO:0008154]; activation of adenylate cyclase activity [GO:0007190]; ameboidal-type cell migration [GO:0001667]; cell morphogenesis [GO:0000902]; establishment or maintenance of cell polarity [GO:0007163]; neutrophil degranulation [GO:0043312]; receptor-mediated endocytosis [GO:0006898]; regulation of adenylate cyclase activity [GO:0045761]; signal transduction [GO:0007165]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q01518-1; Sequence=Displayed; Name=2; IsoId=Q01518-2; Sequence=VSP_036038; 


uniprotID: Q86UF4
geneSymbol: CCDC190
name: Coiled-coil domain-containing protein 190
length: 302
go: ENSG00000185860;
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q86UF4-1; Sequence=Displayed; Name=2; IsoId=Q86UF4-2; Sequence=VSP_022772, VSP_022773, VSP_022774; Note=No experimental confirmation available.; 


uniprotID: A0A1B0GTZ2
geneSymbol: CCDC196
name: Putative coiled-coil domain-containing protein 196 (Long intergenic non-protein coding RNA 238)
length: 297
go: ENSG00000196553;
sequence:


uniprotID: Q9NVL8
geneSymbol: CCDC198
name: Uncharacterized protein CCDC198
length: 296
go: ENSG00000100557;
snps: rs1152530
sequence:


uniprotID: Q8N4L8
geneSymbol: CCDC24
name: Coiled-coil domain-containing protein 24
length: 307
go: ENSG00000159214;
opentargets: blastocyst hatching [GO:0001835]
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q8N4L8-1; Sequence=Displayed; Name=2; IsoId=Q8N4L8-2; Sequence=VSP_018148; Note=No experimental confirmation available.; 


uniprotID: Q15762
geneSymbol: CD226
reactome: R-HSA-198933;
name: CD226 antigen (DNAX accessory molecule 1) (DNAM-1) (CD antigen CD226)
length: 336
go: ENSG00000150637;
snps: rs763361
sequence:

opentargets:
cell surface [GO:0009986]; external side of plasma membrane [GO:0009897]; integral component of plasma membrane [GO:0005887]; membrane raft [GO:0045121]; plasma membrane [GO:0005886]; cell adhesion molecule binding [GO:0050839]; integrin binding [GO:0005178]; protein kinase binding [GO:0019901]; cell adhesion [GO:0007155]; cell recognition [GO:0008037]; cytokine production [GO:0001816]; positive regulation of Fc receptor mediated stimulatory signaling pathway [GO:0060369]; positive regulation of immunoglobulin mediated immune response [GO:0002891]; positive regulation of interferon-gamma production [GO:0032729]; positive regulation of mast cell activation [GO:0033005]; positive regulation of natural killer cell cytokine production [GO:0002729]; positive regulation of natural killer cell mediated cytotoxicity [GO:0045954]; positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target [GO:0002860]; positive regulation of T cell receptor signaling pathway [GO:0050862]; regulation of immune response [GO:0050776]; signal transduction [GO:0007165]


uniprotID: Q96GN5
geneSymbol: CDCA7L
pdb: 5YI9;6EMO;
name: Cell division cycle-associated 7-like protein (Protein JPO2) (Transcription factor RAM2)
length: 454
go: ENSG00000164649;
snps: rs35281045
sequence:

opentargets:
cytosol [GO:0005829]; fibrillar center [GO:0001650]; nucleolus [GO:0005730]; nucleus [GO:0005634]; positive regulation of cell proliferation [GO:0008284]; regulation of transcription, DNA-templated [GO:0006355]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; Synonyms=Variant C; IsoId=Q96GN5-1; Sequence=Displayed; Name=2; Synonyms=Variant B; IsoId=Q96GN5-2; Sequence=VSP_020398; Name=3; IsoId=Q96GN5-4; Sequence=VSP_043806; Name=4; IsoId=Q96GN5-5; Sequence=VSP_046270; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasm. Nucleus. Note=Associates with chromatin. Translocates from cytoplasm to nucleus under dexamethasone induction.


uniprotID: Q16543
geneSymbol: CDC37
reactome: R-HSA-1227986;R-HSA-1236382;R-HSA-5637810;R-HSA-8863795;
pdb: 1US7;2K5B;2N5X;2NCA;2W0G;5FWK;5FWL;5FWM;5FWP;5HPE;
length: 378
go: ENSG00000105401;
snps: rs280528
location: SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:9482106}.
name:
Hsp90 co-chaperone Cdc37 (Hsp90 chaperone protein kinase-targeting subunit) (p50Cdc37) [Cleaved into: Hsp90 co-chaperone Cdc37, N-terminally processed]

sequence:

opentargets:
chaperone complex [GO:0101031]; cytoplasm [GO:0005737]; cytosol [GO:0005829]; extracellular exosome [GO:0070062]; HSP90-CDC37 chaperone complex [GO:1990565]; chaperone binding [GO:0051087]; heat shock protein binding [GO:0031072]; Hsp90 protein binding [GO:0051879]; kinase binding [GO:0019900]; protein kinase binding [GO:0019901]; protein kinase regulator activity [GO:0019887]; protein tyrosine kinase activity [GO:0004713]; scaffold protein binding [GO:0097110]; unfolded protein binding [GO:0051082]; ERBB2 signaling pathway [GO:0038128]; positive regulation of mitophagy in response to mitochondrial depolarization [GO:0098779]; posttranscriptional regulation of gene expression [GO:0010608]; protein folding [GO:0006457]; protein stabilization [GO:0050821]; protein targeting [GO:0006605]; regulation of cyclin-dependent protein serine/threonine kinase activity [GO:0000079]; regulation of interferon-gamma-mediated signaling pathway [GO:0060334]; regulation of type I interferon-mediated signaling pathway [GO:0060338]


uniprotID: P06126
geneSymbol: CD1A
reactome: R-HSA-198933;
pdb: 1ONQ;1XZ0;4X6C;4X6D;4X6E;4X6F;5J1A;
length: 327
go: ENSG00000158477;
drug: DB00098;
snps: rs3087217 rs2269714 rs2269715
name:
T-cell surface glycoprotein CD1a (T-cell surface antigen T6/Leu-6) (hTa1 thymocyte antigen) (CD antigen CD1a)

sequence:

opentargets:
cell surface [GO:0009986]; endosome membrane [GO:0010008]; integral component of plasma membrane [GO:0005887]; membrane raft [GO:0045121]; plasma membrane [GO:0005886]; endogenous lipid antigen binding [GO:0030883]; exogenous lipid antigen binding [GO:0030884]; lipopeptide binding [GO:0071723]; adaptive immune response [GO:0002250]; antigen processing and presentation, endogenous lipid antigen via MHC class Ib [GO:0048006]; antigen processing and presentation, exogenous lipid antigen via MHC class Ib [GO:0048007]; immune response [GO:0006955]; positive regulation of T cell mediated cytotoxicity [GO:0001916]; regulation of immune response [GO:0050776]

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:11231314, ECO:0000269|PubMed:11600221, ECO:0000269|PubMed:18178838}; Single-pass type I membrane protein {ECO:0000255}. Membrane raft {ECO:0000269|PubMed:18178838}; Single-pass type I membrane protein {ECO:0000255}. Endosome membrane {ECO:0000269|PubMed:11231314}; Single-pass type I membrane protein {ECO:0000255}. Note=Subject to intracellular trafficking between the cell membrane and endosomes (PubMed:11231314). Localizes to cell surface lipid rafts (PubMed:18178838). {ECO:0000269|PubMed:11231314, ECO:0000269|PubMed:18178838}.


uniprotID: P27701
geneSymbol: CD82
length: 267
go: ENSG00000085117;
snps: rs1139971
location: SUBCELLULAR LOCATION: Membrane; Multi-pass membrane protein.
name:
CD82 antigen (C33 antigen) (IA4) (Inducible membrane protein R2) (Metastasis suppressor Kangai-1) (Suppressor of tumorigenicity 6 protein) (Tetraspanin-27) (Tspan-27) (CD antigen CD82)

sequence:

opentargets:
extracellular exosome [GO:0070062]; integral component of plasma membrane [GO:0005887]; plasma membrane [GO:0005886]; cell surface receptor signaling pathway [GO:0007166]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P27701-1; Sequence=Displayed; Name=2; IsoId=P27701-2; Sequence=VSP_045656; 


uniprotID: Q01151
geneSymbol: CD83
pdb: 5MIX;5MJ0;5MJ1;5MJ2;
name: CD83 antigen (hCD83) (B-cell activation protein) (Cell surface protein HB15) (CD antigen CD83)
length: 205
go: ENSG00000112149;
snps: rs2230193
location: SUBCELLULAR LOCATION: Membrane; Single-pass type I membrane protein.
sequence:

opentargets:
external side of plasma membrane [GO:0009897]; integral component of plasma membrane [GO:0005887]; plasma membrane [GO:0005886]; defense response [GO:0006952]; humoral immune response [GO:0006959]; negative regulation of interleukin-4 production [GO:0032713]; positive regulation of CD4-positive, alpha-beta T cell differentiation [GO:0043372]; positive regulation of interleukin-10 production [GO:0032733]; positive regulation of interleukin-2 production [GO:0032743]; response to organic cyclic compound [GO:0014070]; signal transduction [GO:0007165]


uniprotID: Q8IVE0
geneSymbol: CROCCP3
length: 287
opentargets: ciliary rootlet [GO:0035253]; centrosome cycle [GO:0007098]
name:
Putative ciliary rootlet coiled-coil protein-like 2 protein (Ciliary rootlet coiled-coil protein pseudogene 3)

sequence:


uniprotID: Q96EP1
geneSymbol: CHFR
pdb: 1LGP;1LGQ;2XOC;2XOY;2XOZ;2XP0;
length: 664
go: ENSG00000072609;
snps: rs1176037831 rs115096950 rs2306541 rs2306536
name:
E3 ubiquitin-protein ligase CHFR (EC 2.3.2.27) (Checkpoint with forkhead and RING finger domains protein) (RING finger protein 196) (RING-type E3 ubiquitin transferase CHFR)

sequence:

opentargets:
nucleus [GO:0005634]; PML body [GO:0016605]; metal ion binding [GO:0046872]; nucleotide binding [GO:0000166]; ubiquitin protein ligase activity [GO:0061630]; ubiquitin-protein transferase activity [GO:0004842]; cell division [GO:0051301]; mitotic cell cycle checkpoint [GO:0007093]; modification-dependent protein catabolic process [GO:0019941]; positive regulation of proteasomal ubiquitin-dependent protein catabolic process [GO:0032436]; positive regulation of protein ubiquitination [GO:0031398]; protein destabilization [GO:0031648]; protein polyubiquitination [GO:0000209]; protein ubiquitination [GO:0016567]; ubiquitin-dependent protein catabolic process [GO:0006511]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=5;  Name=1; IsoId=Q96EP1-1; Sequence=Displayed; Name=2; IsoId=Q96EP1-2; Sequence=VSP_009349; Name=3; IsoId=Q96EP1-3; Sequence=VSP_009350; Name=4; IsoId=Q96EP1-4; Sequence=VSP_038127; Name=5; IsoId=Q96EP1-5; Sequence=VSP_038126; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Nucleus, PML body {ECO:0000269|PubMed:11912157, ECO:0000269|PubMed:15467728, ECO:0000269|PubMed:18172500}.


uniprotID: P15509
geneSymbol: CSF2RA
reactome: R-HSA-512988;R-HSA-5673001;R-HSA-5683826;R-HSA-5688849;R-HSA-5688890;R-HSA-912526;
pdb: 4NKQ;4RS1;
length: 400
go: ENSG00000198223;
drug: DB05194;DB05386;DB00020;
snps: rs137852353
name:
Granulocyte-macrophage colony-stimulating factor receptor subunit alpha (GM-CSF-R-alpha) (GMCSFR-alpha) (GMR-alpha) (CDw116) (CD antigen CD116)

sequence:

opentargets:
external side of plasma membrane [GO:0009897]; extracellular region [GO:0005576]; integral component of plasma membrane [GO:0005887]; intracellular [GO:0005622]; plasma membrane [GO:0005886]; receptor complex [GO:0043235]; cytokine binding [GO:0019955]; cytokine receptor activity [GO:0004896]; protein tyrosine kinase activity [GO:0004713]; Ras guanyl-nucleotide exchange factor activity [GO:0005088]; signaling receptor activity [GO:0038023]; cellular protein metabolic process [GO:0044267]; cytokine-mediated signaling pathway [GO:0019221]; MAPK cascade [GO:0000165]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=8;  Name=1; IsoId=P15509-1; Sequence=Displayed; Name=2; IsoId=P15509-2; Sequence=VSP_001670; Name=3; IsoId=P15509-3; Sequence=VSP_001668, VSP_001669; Name=4; IsoId=P15509-4; Sequence=VSP_001665, VSP_001666; Name=5; IsoId=P15509-5; Sequence=VSP_001667; Name=6; IsoId=P15509-6; Sequence=VSP_001663, VSP_001664; Name=7; Synonyms=Alu-GMRalpha; IsoId=P15509-7; Sequence=VSP_043715; Name=8; IsoId=P15509-8; Sequence=VSP_044272; 

location:
SUBCELLULAR LOCATION: Cell membrane; Single-pass type I membrane protein.; SUBCELLULAR LOCATION: Isoform 3: Secreted {ECO:0000305}.; SUBCELLULAR LOCATION: Isoform 4: Secreted {ECO:0000305}.; SUBCELLULAR LOCATION: Isoform 6: Secreted {ECO:0000305}.


