# annotation

uniprotID: Q8IUR7
geneSymbol: ARMC8
reactome: R-HSA-6798695;
name: Armadillo repeat-containing protein 8
length: 673
go: ENSG00000114098;
sequence:

opentargets:
cytoplasm [GO:0005737]; extracellular region [GO:0005576]; GID complex [GO:0034657]; nucleus [GO:0005634]; specific granule lumen [GO:0035580]; tertiary granule lumen [GO:1904724]; ubiquitin ligase complex [GO:0000151]; neutrophil degranulation [GO:0043312]; proteasome-mediated ubiquitin-dependent protein catabolic process [GO:0043161]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=6;  Name=1; IsoId=Q8IUR7-1; Sequence=Displayed; Name=2; IsoId=Q8IUR7-2; Sequence=VSP_024509; Note=No experimental confirmation available.; Name=3; IsoId=Q8IUR7-3; Sequence=VSP_024512; Note=No experimental confirmation available.; Name=6; IsoId=Q8IUR7-6; Sequence=VSP_024509, VSP_024513, VSP_024514; Name=7; IsoId=Q8IUR7-7; Sequence=VSP_044774; Note=No experimental confirmation available.; Name=8; IsoId=Q8IUR7-8; Sequence=VSP_045137; 

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:17467196}. Cytoplasm {ECO:0000269|PubMed:17467196}.


uniprotID: Q7Z3E5
geneSymbol: ARMC9
length: 818
go: ENSG00000135931;
snps: rs750247691 rs11558175 rs1626450 rs16827883 rs3752780 rs759799287 rs753432312 rs1114167449
location: SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton, cilium basal body {ECO:0000269|PubMed:28625504}.
name:
LisH domain-containing protein ARMC9 (Armadillo repeat-containing protein 9) (Melanoma/melanocyte-specific tumor antigen KU-MEL-1) (NS21)

sequence:

opentargets:
ciliary basal body [GO:0036064]; cytoplasm [GO:0005737]; extracellular exosome [GO:0070062]; cilium assembly [GO:0060271]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q7Z3E5-1; Sequence=Displayed; Name=2; IsoId=Q7Z3E5-2; Sequence=VSP_023804; 


uniprotID: Q9H993
geneSymbol: ARMT1
name: Protein-glutamate O-methyltransferase (EC 2.1.1.-) (Acidic residue methyltransferase 1)
length: 441
go: ENSG00000146476;
snps: rs35036943 rs17850732 rs35734927 rs34437617 rs36037706 rs35989216 rs35972078
sequence:

opentargets:
enzyme binding [GO:0019899]; protein carboxyl O-methyltransferase activity [GO:0051998]; S-adenosylmethionine-dependent methyltransferase activity [GO:0008757]; cellular response to DNA damage stimulus [GO:0006974]; methylation [GO:0032259]; regulation of response to DNA damage stimulus [GO:2001020]


uniprotID: Q86TY3
geneSymbol: ARMH4
name: Armadillo-like helical domain-containing protein 4
length: 774
go: ENSG00000139971;
opentargets: integral component of membrane [GO:0016021]
snps: rs3829765 rs1018504 rs12886921 rs2273442
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Single-pass type I membrane protein {ECO:0000305}.
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q86TY3-1; Sequence=Displayed; Name=2; IsoId=Q86TY3-2; Sequence=VSP_020882, VSP_020883; Note=No experimental confirmation available.; Name=3; IsoId=Q86TY3-3; Sequence=VSP_020881; Note=No experimental confirmation available.; 


uniprotID: Q9UH62
geneSymbol: ARMCX3
length: 379
go: ENSG00000102401;
name:
Armadillo repeat-containing X-linked protein 3 (ARM protein lost in epithelial cancers on chromosome X 3) (Protein ALEX3)

sequence:

opentargets:
integral component of mitochondrial outer membrane [GO:0031307]; nucleus [GO:0005634]; cellular protein localization [GO:0034613]; positive regulation of transcription by RNA polymerase II [GO:0045944]

location:
SUBCELLULAR LOCATION: Mitochondrion outer membrane {ECO:0000250|UniProtKB:Q8BHS6}; Single-pass membrane protein {ECO:0000255}. Cytoplasm {ECO:0000250|UniProtKB:Q8BHS6}. Nucleus {ECO:0000250|UniProtKB:Q8BHS6}.


uniprotID: Q7L4S7
geneSymbol: ARMCX6
name: Protein ARMCX6
length: 300
go: ENSG00000198960;
opentargets: integral component of membrane [GO:0016021]; mitochondrial outer membrane [GO:0005741]
sequence:

location:
SUBCELLULAR LOCATION: Mitochondrion {ECO:0000250|UniProtKB:Q8K3A6}. Mitochondrion outer membrane {ECO:0000250|UniProtKB:Q8BHS6}; Single-pass membrane protein {ECO:0000255}.


uniprotID: Q8N7E2
geneSymbol: CBLL2
reactome: R-HSA-983168;
length: 425
go: ENSG00000175809;
snps: rs5951426 rs12860105
name:
E3 ubiquitin-protein ligase CBLL2 (EC 2.3.2.27) (Cbl proto-oncogene-like protein 2) (RING-type E3 ubiquitin transferase ZNF645) (Zinc finger protein 645) (c-Cbl-like protein 2)

sequence:

opentargets:
cytoplasm [GO:0005737]; metal ion binding [GO:0046872]; nucleic acid binding [GO:0003676]; ubiquitin protein ligase activity [GO:0061630]; protein ubiquitination [GO:0016567]

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:20657603}. Note=Localized over the postacrosomal perinuclear theca region and the entire length of sperm tail. {ECO:0000269|PubMed:20657603}.


uniprotID: P23435
geneSymbol: CBLN1
pdb: 5KC5;5KC6;5KC7;5KCA;
name: Cerebellin-1 (Precerebellin) [Cleaved into: Cerebellin (CER); [des-Ser1]-cerebellin]
length: 193
go: ENSG00000102924;
location: SUBCELLULAR LOCATION: Secreted. Cell junction, synapse, postsynaptic cell membrane {ECO:0000250}.
sequence:
MLGVLELLLLGAAWLAGPARGQNETEPIVLEGKCLVVCDSNPTSDPTGTALGISVRSGSAKVAFSAIRSTNHEPSEMSNRTMIIYFDQVLVNIGNNFDSERSTFIAPRKGIYSFNFHVVKVYNRQTIQVSLMLNGWPVISAFAGDQDVTREAASNGVLIQMEKGDRAYLKLERGNLMGGWKYSTFSGFLVFPL

opentargets:
cell junction [GO:0030054]; glutamatergic synapse [GO:0098978]; parallel fiber to Purkinje cell synapse [GO:0098688]; postsynaptic membrane [GO:0045211]; synaptic cleft [GO:0043083]; protein homodimerization activity [GO:0042803]; cerebellar granule cell differentiation [GO:0021707]; chemical synaptic transmission [GO:0007268]; heterophilic cell-cell adhesion via plasma membrane cell adhesion molecules [GO:0007157]; negative regulation of excitatory postsynaptic potential [GO:0090394]; nervous system development [GO:0007399]; positive regulation of long-term synaptic depression [GO:1900454]; positive regulation of synapse assembly [GO:0051965]; protein secretion [GO:0009306]; regulation of postsynaptic density assembly [GO:0099151]; regulation of presynapse assembly [GO:1905606]


uniprotID: P48052
geneSymbol: CPA2
pdb: 1AYE;1DTD;1O6X;
name: Carboxypeptidase A2 (EC 3.4.17.15)
length: 419
go: ENSG00000158516;
snps: rs17850135
location: SUBCELLULAR LOCATION: Secreted.
sequence:

opentargets:
extracellular region [GO:0005576]; extracellular space [GO:0005615]; vacuole [GO:0005773]; carboxypeptidase activity [GO:0004180]; metallocarboxypeptidase activity [GO:0004181]; zinc ion binding [GO:0008270]; protein catabolic process in the vacuole [GO:0007039]; proteolysis [GO:0006508]


uniprotID: Q96IY4
geneSymbol: CPB2
reactome: R-HSA-2022377;R-HSA-977606;
pdb: 3D66;3D67;3D68;3LMS;4P10;5HVF;5HVG;5HVH;
length: 423
go: ENSG00000080618;
drug: DB05712;
snps: rs3742264 rs1926447
location: SUBCELLULAR LOCATION: Secreted.
name:
Carboxypeptidase B2 (EC 3.4.17.20) (Carboxypeptidase U) (CPU) (Plasma carboxypeptidase B) (pCPB) (Thrombin-activable fibrinolysis inhibitor) (TAFI)

sequence:

opentargets:
cell [GO:0005623]; extracellular exosome [GO:0070062]; extracellular region [GO:0005576]; extracellular space [GO:0005615]; metallocarboxypeptidase activity [GO:0004181]; zinc ion binding [GO:0008270]; blood coagulation [GO:0007596]; cellular response to glucose stimulus [GO:0071333]; fibrinolysis [GO:0042730]; liver regeneration [GO:0097421]; negative regulation of fibrinolysis [GO:0051918]; negative regulation of hepatocyte proliferation [GO:2000346]; negative regulation of plasminogen activation [GO:0010757]; positive regulation of extracellular matrix constituent secretion [GO:0003331]; proteolysis [GO:0006508]; regulation of complement activation [GO:0030449]; response to drug [GO:0042493]; response to heat [GO:0009408]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q96IY4-1; Sequence=Displayed; Name=2; IsoId=Q96IY4-2; Sequence=VSP_013446, VSP_013447; 


uniprotID: Q8NEM8
geneSymbol: AGBL3
reactome: R-HSA-8955332;
name: Cytosolic carboxypeptidase 3 (EC 3.4.17.-) (ATP/GTP-binding protein-like 3)
length: 1001
go: ENSG00000146856;
snps: rs2348049 rs4236655 rs17804854
location: SUBCELLULAR LOCATION: Cytoplasm, cytosol {ECO:0000250|UniProtKB:Q8CDP0}.
sequence:

opentargets:
cytosol [GO:0005829]; metallocarboxypeptidase activity [GO:0004181]; zinc ion binding [GO:0008270]; protein side chain deglutamylation [GO:0035610]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=Q8NEM8-1; Sequence=Displayed; Name=2; IsoId=Q8NEM8-2; Sequence=VSP_024372, VSP_024373; Note=No experimental confirmation available.; Name=3; IsoId=Q8NEM8-3; Sequence=VSP_024370, VSP_024371; Note=No experimental confirmation available.; Name=4; IsoId=Q8NEM8-4; Sequence=VSP_040423; Note=No experimental confirmation available.; 


uniprotID: Q8NDL9
geneSymbol: AGBL5
reactome: R-HSA-8955332;
name: Cytosolic carboxypeptidase-like protein 5 (EC 3.4.17.-) (ATP/GTP-binding protein-like 5)
length: 886
go: ENSG00000084693;
snps: rs879253769 rs780394281 rs879253768 rs35804461
sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; intercellular bridge [GO:0045171]; microtubule cytoskeleton [GO:0015630]; midbody [GO:0030496]; mitotic spindle [GO:0072686]; nucleus [GO:0005634]; metallocarboxypeptidase activity [GO:0004181]; tubulin binding [GO:0015631]; zinc ion binding [GO:0008270]; defense response to virus [GO:0051607]; protein branching point deglutamylation [GO:0035611]; protein deglutamylation [GO:0035608]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q8NDL9-1; Sequence=Displayed; Name=2; IsoId=Q8NDL9-2; Sequence=VSP_028361, VSP_028362; Note=No experimental confirmation available.; Name=3; IsoId=Q8NDL9-3; Sequence=VSP_028359, VSP_028360; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasm, cytosol {ECO:0000250|UniProtKB:Q09M02}. Nucleus {ECO:0000269|PubMed:23085998}. Cytoplasm, cytoskeleton, spindle {ECO:0000269|PubMed:23085998}. Midbody {ECO:0000269|PubMed:23085998}. Note=Mainly cytoplasmic. Slight accumulation in the nucleus is observed (By similarity). Colocalizes with alpha-tubulin in the mitotic spindle and with midbody microtubules in the intercellular bridges formed during cytokinesis. {ECO:0000250|UniProtKB:Q09M02, ECO:0000269|PubMed:23085998}.


uniprotID: Q13185
geneSymbol: CBX3
reactome: R-HSA-427389;R-HSA-73777;R-HSA-8953750;
pdb: 2L11;3DM1;3KUP;3TZD;5T1I;
length: 183
go: ENSG00000122565;
name:
Chromobox protein homolog 3 (HECH) (Heterochromatin protein 1 homolog gamma) (HP1 gamma) (Modifier 2 protein)

sequence:
MASNKTTLQKMGKKQNGKSKKVEEAEPEEFVVEKVLDRRVVNGKVEYFLKWKGFTDADNTWEPEENLDCPELIEAFLNSQKAGKEKDGTKRKSLSDSESDDSKSKKKRDAADKPRGFARGLDPERIIGATDSSGELMFLMKWKDSDEADLVLAKEANMKCPQIVIAFYEERLTWHSCPEDEAQ

opentargets:
chromatin [GO:0000785]; chromosome, centromeric region [GO:0000775]; condensed chromosome, centromeric region [GO:0000779]; nuclear chromosome, telomeric region [GO:0000784]; nuclear envelope [GO:0005635]; nuclear euchromatin [GO:0005719]; nuclear heterochromatin [GO:0005720]; nuclear inner membrane [GO:0005637]; nuclear pericentric heterochromatin [GO:0031618]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; site of DNA damage [GO:0090734]; spindle [GO:0005819]; enzyme binding [GO:0019899]; histone methyltransferase binding [GO:1990226]; identical protein binding [GO:0042802]; protein domain specific binding [GO:0019904]; cellular response to DNA damage stimulus [GO:0006974]; chromatin remodeling [GO:0006338]; negative regulation of G0 to G1 transition [GO:0070317]; negative regulation of transcription, DNA-templated [GO:0045892]; rhythmic process [GO:0048511]

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000305}. Note=Associates with euchromatin and is largely excluded from constitutive heterochromatin. May be associated with microtubules and mitotic poles during mitosis (Potential). {ECO:0000305}.


uniprotID: O95503
geneSymbol: CBX6
reactome: R-HSA-2559580;R-HSA-8939243;R-HSA-8943724;
pdb: 3GV6;3I90;
name: Chromobox protein homolog 6
length: 412
go: ENSG00000183741;
sequence:

opentargets:
cytoplasmic side of plasma membrane [GO:0009898]; dendrite [GO:0030425]; filopodium [GO:0030175]; growth cone [GO:0030426]; heterochromatin [GO:0000792]; neuronal cell body [GO:0043025]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; PcG protein complex [GO:0031519]; plasma membrane [GO:0005886]; single-stranded RNA binding [GO:0003727]; chromatin organization [GO:0006325]; negative regulation of transcription by RNA polymerase II [GO:0000122]; neuron projection development [GO:0031175]

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:18927235}. Chromosome {ECO:0000269|PubMed:18927235}. Note=Uniformely distributed in the nucleoplasm (PubMed:18927235). Localizes to the inactivated X chromosome in females (By similarity). {ECO:0000250|UniProtKB:Q9DBY5, ECO:0000269|PubMed:18927235}.


uniprotID: Q9HC52
geneSymbol: CBX8
pdb: 2N4Q;3I91;5EQ0;
name: Chromobox protein homolog 8 (Polycomb 3 homolog) (Pc3) (hPc3) (Rectachrome 1)
length: 389
go: ENSG00000141570;
snps: rs4889891
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:21282530}.
reactome:
R-HSA-2559580;R-HSA-3108214;R-HSA-3899300;R-HSA-4551638;R-HSA-4570464;R-HSA-4655427;R-HSA-8939243;R-HSA-8943724;

sequence:

opentargets:
heterochromatin [GO:0000792]; nuclear chromatin [GO:0000790]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; PcG protein complex [GO:0031519]; PRC1 complex [GO:0035102]; methylated histone binding [GO:0035064]; single-stranded RNA binding [GO:0003727]; ubiquitin-protein transferase activator activity [GO:0097027]; cellular response to hydrogen peroxide [GO:0070301]; histone ubiquitination [GO:0016574]; negative regulation of transcription by RNA polymerase II [GO:0000122]; positive regulation of cell proliferation [GO:0008284]; positive regulation of collagen biosynthetic process [GO:0032967]; positive regulation of DNA repair [GO:0045739]


uniprotID: Q9Y3M2
geneSymbol: CBY1
reactome: R-HSA-3769402;
pdb: 4WRQ;
length: 126
go: ENSG00000100211;
name:
Protein chibby homolog 1 (ARPP-binding protein) (Cytosolic leucine-rich protein) (PIGEA-14) (PKD2 interactor, Golgi and endoplasmic reticulum-associated 1)

sequence:
MPFFGNTFSPKKTPPRKSASLSNLHSLDRSTREVELGLEYGSPTMNLAGQSLKFENGQWIAETGVSGGVDRREVQRLRRRNQQLEEENNLLRLKVDILLDMLSESTAESHLMEKELDELRISRKRK

opentargets:
centriole [GO:0005814]; ciliary basal body [GO:0036064]; cytosol [GO:0005829]; nuclear speck [GO:0016607]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; trans-Golgi network [GO:0005802]; beta-catenin binding [GO:0008013]; identical protein binding [GO:0042802]; protein homodimerization activity [GO:0042803]; cardiac muscle cell differentiation [GO:0055007]; ciliary transition zone assembly [GO:1905349]; cilium assembly [GO:0060271]; fat cell differentiation [GO:0045444]; negative regulation of transcription, DNA-templated [GO:0045892]; negative regulation of Wnt signaling pathway [GO:0030178]; protein homotetramerization [GO:0051289]; protein localization [GO:0008104]

location:
SUBCELLULAR LOCATION: Nucleus speckle {ECO:0000269|PubMed:16424001}. Cytoplasm, cytoskeleton, cilium basal body {ECO:0000269|PubMed:27528616}. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome, centriole {ECO:0000269|PubMed:27528616}. Golgi apparatus. Golgi apparatus, trans-Golgi network {ECO:0000269|PubMed:16424001}.


uniprotID: Q5JPI3
geneSymbol: C3orf38
name: Uncharacterized protein C3orf38
length: 329
go: ENSG00000179021;
sequence:

opentargets:
nucleus [GO:0005634]; apoptotic process [GO:0006915]; positive regulation of apoptotic process [GO:0043065]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q5JPI3-1; Sequence=Displayed; Name=2; IsoId=Q5JPI3-2; Sequence=VSP_019621; 


uniprotID: Q6ZVT6
geneSymbol: C3orf67
name: Uncharacterized protein C3orf67
length: 689
go: ENSG00000163689;
snps: rs13324082 rs35778488 rs34631714 rs34322986
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q6ZVT6-1; Sequence=Displayed; Name=2; IsoId=Q6ZVT6-2; Sequence=VSP_030913; 


uniprotID: P0CE67
geneSymbol: C3orf79
name: Putative uncharacterized protein C3orf79
length: 100
sequence:
MHVCDLQKLVRIQLAFTTFPWMFSCHLLPTPELSSKRNQCLLYKTSGCLTQMPILYGHPATLLKDYILQAILQPGKKIQGGTEIQRGSFANQYQTDASHL


uniprotID: F5H4A9
geneSymbol: C3orf80
name: Uncharacterized membrane protein C3orf80
length: 247
go: ENSG00000180044;
opentargets: integral component of membrane [GO:0016021]
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Single-pass membrane protein {ECO:0000305}.
sequence:


uniprotID: Q96NT0
geneSymbol: CCDC115
name: Coiled-coil domain-containing protein 115
length: 180
go: ENSG00000136710;
snps: rs869025583 rs751325113
sequence:
MAALDLRAELDSLVLQLLGDLEELEGKRTVLNARVEEGWLSLAKARYAMGAKSVGPLQYASHMEPQVCLHASEAQEGLQKFKVVRAGVHAPEEVGPREAGLRRRKGPTKTPEPESSEAPQDPLNWFGILVPHSLRQAQASFRDGLQLAADIASLQNRIDWGRSQLRGLQEKLKQLEPGAA

opentargets:
COPI-coated vesicle [GO:0030137]; endoplasmic reticulum [GO:0005783]; endoplasmic reticulum-Golgi intermediate compartment [GO:0005793]; endosome [GO:0005768]; extrinsic component of endoplasmic reticulum membrane [GO:0042406]; lysosome [GO:0005764]; membrane [GO:0016020]; vacuolar proton-transporting V-type ATPase complex [GO:0016471]; unfolded protein binding [GO:0051082]; cellular iron ion homeostasis [GO:0006879]; cellular response to increased oxygen levels [GO:0036295]; lysosomal lumen acidification [GO:0007042]; lysosomal protein catabolic process [GO:1905146]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q96NT0-1; Sequence=Displayed; Name=2; IsoId=Q96NT0-2; Sequence=VSP_056115, VSP_056116; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Endosome {ECO:0000250|UniProtKB:Q8VE99}. Lysosome {ECO:0000250|UniProtKB:Q8VE99}. Endoplasmic reticulum-Golgi intermediate compartment {ECO:0000269|PubMed:26833332}. Cytoplasmic vesicle, COPI-coated vesicle {ECO:0000269|PubMed:26833332}. Endoplasmic reticulum {ECO:0000269|PubMed:28296633}.


uniprotID: Q96CT7
geneSymbol: CCDC124
name: Coiled-coil domain-containing protein 124
length: 223
go: ENSG00000007080;
snps: rs8104153
sequence:

opentargets:
cytosol [GO:0005829]; microtubule organizing center [GO:0005815]; midbody [GO:0030496]; plasma membrane [GO:0005886]; RNA binding [GO:0003723]; cell cycle [GO:0007049]; cell division [GO:0051301]

location:
SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton, microtubule organizing center, centrosome {ECO:0000269|PubMed:23894443}. Midbody {ECO:0000269|PubMed:23894443}. Note=Colocalizes with gamma-tubulin at interphase, prophase, metaphase, and anaphase. Relocates from centrosome to midbody at telophase.


uniprotID: Q96EE4
geneSymbol: CCDC126
name: Coiled-coil domain-containing protein 126
length: 140
go: ENSG00000169193;
opentargets: extracellular region [GO:0005576]; membrane [GO:0016020]
location: SUBCELLULAR LOCATION: Secreted {ECO:0000305}.
sequence:
MFFTISRKNMSQKLSLLLLVFGLIWGLMLLHYTFQQPRHQSSVKLREQILDLSKRYVKALAEENKNTVDVENGASMAGYADLKRTIAVLLDDILQRLVKLENKVDYIVVNGSAANTTNGTSGNLVPVTTNKRTNVSGSIR


uniprotID: Q96BQ5
geneSymbol: CCDC127
name: Coiled-coil domain-containing protein 127
length: 260
go: ENSG00000164366;
snps: rs11557427
sequence:


uniprotID: P13994
geneSymbol: CCDC130
name: Coiled-coil domain-containing protein 130 (9 kDa protein)
length: 396
go: ENSG00000104957;
opentargets: response to virus [GO:0009615]
snps: rs12974461 rs35761244
sequence:


uniprotID: Q96JN2
geneSymbol: CCDC136
name: Coiled-coil domain-containing protein 136 (Nasopharyngeal carcinoma-associated gene 6 protein)
length: 1154
go: ENSG00000128596;
snps: rs3816887 rs4728137
sequence:

opentargets:
acrosomal membrane [GO:0002080]; integral component of membrane [GO:0016021]; acrosome assembly [GO:0001675]; single fertilization [GO:0007338]; spermatogenesis [GO:0007283]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=Q96JN2-1; Sequence=Displayed; Name=2; IsoId=Q96JN2-2; Sequence=VSP_027843, VSP_027844; Note=No experimental confirmation available.; Name=3; IsoId=Q96JN2-3; Sequence=VSP_027840, VSP_027841, VSP_027842; Note=No experimental confirmation available.; Name=4; IsoId=Q96JN2-4; Sequence=VSP_027845; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasmic vesicle, secretory vesicle, acrosome membrane {ECO:0000250|UniProtKB:Q3TVA9}; Single-pass membrane protein {ECO:0000250|UniProtKB:Q3TVA9}. Note=Exclusively localized on a peripheral part of acrosome membrane (Golgi phase), localized on the equatorial segment of the acrosome (maturation phase). {ECO:0000250|UniProtKB:Q3TVA9}.


uniprotID: Q6PK04
geneSymbol: CCDC137
name: Coiled-coil domain-containing protein 137
length: 289
go: ENSG00000185298;
snps: rs7226091 rs11150805 rs11546630 rs11546631
location: SUBCELLULAR LOCATION: Chromosome {ECO:0000269|PubMed:20813266}.
sequence:

opentargets:
chromosome [GO:0005694]; fibrillar center [GO:0001650]; nucleolus [GO:0005730]; RNA binding [GO:0003723]


uniprotID: Q96MF4
geneSymbol: CCDC140
name: Coiled-coil domain-containing protein 140
length: 163
go: ENSG00000163081;
sequence:
MGDECSNPDLLAEPGSSPPWDHGNQRQEAANESNTRVPRVLKAHLGPETAQPTKRSKRNRWRRQSCQGPSPARSGQFLGSADLGLQRGVLKSAARTCLSEISNSTRASPESAQSTDPGRAARPRTRTLPTPHSFKIGEEAEEMKKKKERKRRKERKKERNFKK


uniprotID: Q6ZP82
geneSymbol: CCDC141
name: Coiled-coil domain-containing protein 141 (Coiled-coil protein associated with myosin II and DISC1)
length: 1450
go: ENSG00000163492;
opentargets: cytoplasm [GO:0005737]; microtubule organizing center [GO:0005815]
snps: rs12988301 rs17362588 rs13419085
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q6ZP82-1; Sequence=Displayed; Note=No experimental confirmation available. Gene prediction based on EST data.; Name=2; IsoId=Q6ZP82-2; Sequence=VSP_035968; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250|UniProtKB:A2AST1}. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome {ECO:0000250|UniProtKB:A2AST1}. Note=Co-localized with DISC1 at/around the centrosome. Localizes to the centrosome, at least in part, in a DISC1-dependent manner. {ECO:0000250|UniProtKB:A2AST1}.


uniprotID: Q17RM4
geneSymbol: CCDC142
name: Coiled-coil domain-containing protein 142
length: 750
go: ENSG00000135637;
snps: rs13385919
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q17RM4-1; Sequence=Displayed; Name=2; IsoId=Q17RM4-2; Sequence=VSP_029497; Note=No experimental confirmation available.; Name=3; IsoId=Q17RM4-3; Sequence=VSP_029498; Note=No experimental confirmation available.; 


uniprotID: Q6ZUS6
geneSymbol: CCDC149
name: Coiled-coil domain-containing protein 149
length: 474
go: ENSG00000181982;
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=6;  Name=1; IsoId=Q6ZUS6-1; Sequence=Displayed; Name=2; IsoId=Q6ZUS6-2; Sequence=VSP_042498, VSP_034743; Note=No experimental confirmation available.; Name=3; IsoId=Q6ZUS6-3; Sequence=VSP_042498, VSP_034741, VSP_034742; Note=No experimental confirmation available.; Name=4; IsoId=Q6ZUS6-4; Sequence=VSP_042498; Name=5; IsoId=Q6ZUS6-5; Sequence=VSP_042499; Name=6; IsoId=Q6ZUS6-6; Sequence=VSP_042500; 


uniprotID: A4D256
geneSymbol: CDC14C
length: 447
snps: rs1615556 rs421206
name:
Dual specificity protein phosphatase CDC14C (EC 3.1.3.16) (EC 3.1.3.48) (CDC14 cell division cycle 14 homolog C)

sequence:

opentargets:
centrosome [GO:0005813]; cytoplasm [GO:0005737]; endoplasmic reticulum membrane [GO:0005789]; integral component of membrane [GO:0016021]; mitotic spindle [GO:0072686]; nucleus [GO:0005634]; protein serine/threonine phosphatase activity [GO:0004722]; protein tyrosine phosphatase activity [GO:0004725]; protein tyrosine/serine/threonine phosphatase activity [GO:0008138]; mitotic cell cycle arrest [GO:0071850]; mitotic spindle midzone assembly [GO:0051256]; regulation of exit from mitosis [GO:0007096]

location:
SUBCELLULAR LOCATION: Endoplasmic reticulum membrane {ECO:0000269|PubMed:18547142}; Single-pass membrane protein {ECO:0000255}. Note=Retains its endoplasmic reticulum localization during mitosis. {ECO:0000269|PubMed:18547142}.


uniprotID: A5D8V7
geneSymbol: CCDC151
name: Coiled-coil domain-containing protein 151
length: 595
go: ENSG00000198003;
snps: rs34619515
sequence:

opentargets:
axoneme [GO:0005930]; centriole [GO:0005814]; ciliary basal body [GO:0036064]; cilium [GO:0005929]; cilium movement [GO:0003341]; determination of left/right symmetry [GO:0007368]; outer dynein arm assembly [GO:0036158]; regulation of cilium assembly [GO:1902017]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=A5D8V7-1; Sequence=Displayed; Name=2; IsoId=A5D8V7-2; Sequence=VSP_056903; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cell projection, cilium {ECO:0000250|UniProtKB:Q8BSN3}. Cytoplasm, cytoskeleton, cilium basal body {ECO:0000250|UniProtKB:Q8BSN3}. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome, centriole {ECO:0000250|UniProtKB:Q8BSN3}. Cytoplasm, cytoskeleton, cilium axoneme {ECO:0000269|PubMed:25192045}.


uniprotID: Q494R4
geneSymbol: CCDC153
name: Coiled-coil domain-containing protein 153
length: 210
go: ENSG00000248712;
snps: rs2301574
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q494R4-1; Sequence=Displayed; Name=2; IsoId=Q494R4-2; Sequence=VSP_034518; 


uniprotID: A6NGH7
geneSymbol: CCDC160
name: Coiled-coil domain-containing protein 160
length: 325
go: ENSG00000203952;
sequence:


uniprotID: P0CW27
geneSymbol: CCDC166
name: Coiled-coil domain-containing protein 166
length: 439
go: ENSG00000255181;
sequence:


uniprotID: A6NNP5
geneSymbol: CCDC169
name: Coiled-coil domain-containing protein 169
length: 214
go: ENSG00000242715;
snps: rs9546897
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=6;  Name=1; IsoId=A6NNP5-1; Sequence=Displayed; Name=2; IsoId=A6NNP5-2; Sequence=VSP_035636, VSP_035637; Note=No experimental confirmation available.; Name=3; IsoId=A6NNP5-3; Sequence=VSP_040479, VSP_040480; Name=4; IsoId=A6NNP5-4; Sequence=VSP_040480; Name=5; IsoId=A6NNP5-5; Sequence=VSP_040479; Name=6; IsoId=A6NNP5-6; Sequence=VSP_043810, VSP_043811, VSP_040480; 


uniprotID: Q8IYT3
geneSymbol: CCDC170
name: Coiled-coil domain-containing protein 170
length: 715
go: ENSG00000120262;
snps: rs12205837 rs953767 rs17855718 rs55868409 rs35159094 rs34430497 rs6929137 rs3734804
sequence:


uniprotID: Q6TFL3
geneSymbol: CCDC171
name: Coiled-coil domain-containing protein 171
length: 1326
go: ENSG00000164989;
snps: rs443563 rs4741510 rs10962127 rs34816651 rs1539172
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q6TFL3-1; Sequence=Displayed; Note=No experimental confirmation available.; Name=2; IsoId=Q6TFL3-3; Sequence=VSP_014445, VSP_014446; Note=No experimental confirmation available.; Name=3; IsoId=Q6TFL3-4; Sequence=VSP_043768; 


uniprotID: Q96M95
geneSymbol: CCDC42
name: Coiled-coil domain-containing protein 42
length: 316
go: ENSG00000161973;
opentargets: spermatid development [GO:0007286]
snps: rs12952995 rs9893451 rs2288156
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q96M95-1; Sequence=Displayed; Name=2; IsoId=Q96M95-2; Sequence=VSP_055651; Note=No experimental confirmation available.; 


uniprotID: Q8IVM0
geneSymbol: CCDC50
name: Coiled-coil domain-containing protein 50 (Protein Ymer)
length: 306
go: ENSG00000152492;
snps: rs35380043 rs293813
sequence:

opentargets:
cytosol [GO:0005829]; ubiquitin protein ligase binding [GO:0031625]; sensory perception of sound [GO:0007605]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; Synonyms=Short; IsoId=Q8IVM0-1; Sequence=Displayed; Note=Major isoform.; Name=2; Synonyms=Long; IsoId=Q8IVM0-2; Sequence=VSP_014985; 

location:
SUBCELLULAR LOCATION: Cytoplasm. Note=Associated with microtubules of the cytoskeleton and mitotic apparatus. {ECO:0000250}.


uniprotID: Q8NEL0
geneSymbol: CCDC54
name: Coiled-coil domain-containing protein 54 (Testis development protein NYD-SP17)
length: 328
go: ENSG00000138483;
snps: rs709564
sequence:


uniprotID: Q4VC31
geneSymbol: CCDC58
name: Coiled-coil domain-containing protein 58
length: 144
go: ENSG00000160124;
sequence:
MAAPSGGVNCEEFAEFQELLKVMRTIDDRIVHELNTTVPTASFAGKIDASQTCKQLYESLMAAHASRDRVIKNCIAQTSAVVKNLREEREKNLDDLTLLKQLRKEQTKLKWMQSELNVEEVVNDRSWKVFNERCRIHFKPPKNE


uniprotID: Q8IWA6
geneSymbol: CCDC60
name: Coiled-coil domain-containing protein 60
length: 550
go: ENSG00000183273;
snps: rs1064319 rs2519540 rs16949292
sequence:


uniprotID: A6NI79
geneSymbol: CCDC69
name: Coiled-coil domain-containing protein 69
length: 296
go: ENSG00000198624;
snps: rs248427
sequence:

opentargets:
cytoplasm [GO:0005737]; midbody [GO:0030496]; nucleus [GO:0005634]; spindle midzone [GO:0051233]; microtubule binding [GO:0008017]; spindle midzone assembly [GO:0051255]

location:
SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton, spindle {ECO:0000269|PubMed:20962590}. Midbody {ECO:0000269|PubMed:20962590}. Note=During early anaphase, localizes along overlapping interpolar microtubules between the separating chromosomes. During late anaphase, localizes to the center of spindle midzone. Concentrated at the midbody during telophase. {ECO:0000269|PubMed:20962590}.


uniprotID: Q8IV32
geneSymbol: CCDC71
name: Coiled-coil domain-containing protein 71
length: 467
go: ENSG00000177352;
snps: rs4955419 rs4955418
sequence:

opentargets:
cellular lipid metabolic process [GO:0044255]; positive regulation of fat cell differentiation [GO:0045600]


uniprotID: Q96P47
geneSymbol: AGAP3
pdb: 3IHW;
length: 875
go: ENSG00000133612;
name:
Arf-GAP with GTPase, ANK repeat and PH domain-containing protein 3 (AGAP-3) (CRAM-associated GTPase) (CRAG) (Centaurin-gamma-3) (Cnt-g3) (MR1-interacting protein) (MRIP-1)

sequence:

opentargets:
cell periphery [GO:0071944]; cytoplasm [GO:0005737]; membrane [GO:0016020]; nucleus [GO:0005634]; GTP binding [GO:0005525]; GTPase activator activity [GO:0005096]; GTPase activity [GO:0003924]; metal ion binding [GO:0046872]; polyubiquitin modification-dependent protein binding [GO:0031593]; cellular response to reactive oxygen species [GO:0034614]; proteasome-mediated ubiquitin-dependent protein catabolic process [GO:0043161]; protein import into nucleus, translocation [GO:0000060]; signal transduction [GO:0007165]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=6;  Name=1; IsoId=Q96P47-1; Sequence=Displayed; Name=2; IsoId=Q96P47-2; Sequence=VSP_018534, VSP_018535; Name=3; IsoId=Q96P47-3; Sequence=VSP_018536, VSP_018537; Name=4; IsoId=Q96P47-4; Sequence=VSP_040373; Name=5; IsoId=Q96P47-5; Sequence=VSP_054890, VSP_054891; Note=No experimental confirmation available.; Name=6; IsoId=Q96P47-6; Sequence=VSP_040373, VSP_018536, VSP_018537; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:16461359}. Note=In cells upon oxidative stress or in brains of Machado-Joseph disease patients, translocates to PML nuclear bodies.


uniprotID: Q13155
geneSymbol: AIMP2
reactome: R-HSA-2408517;R-HSA-379716;
pdb: 4DPG;4YCU;4YCW;5A1N;5A34;5A5H;5Y6L;
length: 320
go: ENSG00000106305;
snps: rs17855441 rs34525431 rs982080297
name:
Aminoacyl tRNA synthase complex-interacting multifunctional protein 2 (Multisynthase complex auxiliary component p38) (Protein JTV-1)

sequence:

opentargets:
aminoacyl-tRNA synthetase multienzyme complex [GO:0017101]; cytosol [GO:0005829]; membrane [GO:0016020]; nucleus [GO:0005634]; protein-containing complex scaffold activity [GO:0032947]; apoptotic process [GO:0006915]; negative regulation of cell proliferation [GO:0008285]; positive regulation of aminoacyl-tRNA ligase activity [GO:1903632]; positive regulation of neuron death [GO:1901216]; positive regulation of protein ubiquitination [GO:0031398]; protein-containing complex assembly [GO:0065003]; tRNA aminoacylation for protein translation [GO:0006418]; type II pneumocyte differentiation [GO:0060510]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q13155-1; Sequence=Displayed; Name=2; Synonyms=DX2 {ECO:0000303|PubMed:24312579}; IsoId=Q13155-2; Sequence=VSP_059914; 

location:
SUBCELLULAR LOCATION: Cytoplasm, cytosol {ECO:0000269|PubMed:19289464}. Nucleus {ECO:0000250|UniProtKB:Q8R010}. Note=Following DNA damage, dissociates from the aminoacyl-tRNA synthase complex and translocates from the cytoplasm to the nucleus. {ECO:0000250|UniProtKB:Q8R010}.


uniprotID: C9JUS6
geneSymbol: ADM5
name: Putative adrenomedullin-5-like protein
length: 153
go: ENSG00000224420;
opentargets: extracellular region [GO:0005576]
location: SUBCELLULAR LOCATION: Secreted {ECO:0000305}.
sequence:
MTIHILILLLLLAFSAQGDLDTAARRGQHQVPQHRGHVCYLGVCRTHRLAEIIYWIRCLHQGALGEGQPRAPGPLQLWAPPVARGGSPARFPGFRPAARGLAQCPARWVTSGTARPLLGFSLPICMLELLLHISSPLTPAPETVFPSPSPGCD


uniprotID: Q13686
geneSymbol: ALKBH1
length: 389
go: ENSG00000100601;
snps: rs17825440 rs6494
name:
Nucleic acid dioxygenase ALKBH1 (EC 1.14.11.-) (Alkylated DNA repair protein alkB homolog 1) (Alpha-ketoglutarate-dependent dioxygenase ABH1) (DNA 6mA demethylase) (DNA N6-methyl adenine demethylase) (EC 1.14.11.51) (DNA lyase ABH1) (EC 4.2.99.18) (DNA oxidative demethylase ALKBH1) (EC 1.14.11.33) (tRNA N1-methyl adenine demethylase) (EC 1.14.11.-)

sequence:

opentargets:
mitochondrion [GO:0005739]; nuclear euchromatin [GO:0005719]; 1-ethyladenine demethylase activity [GO:0103053]; chemoattractant activity [GO:0042056]; class I DNA-(apurinic or apyrimidinic site) endonuclease activity [GO:0140078]; dioxygenase activity [GO:0051213]; ferrous iron binding [GO:0008198]; methylcytosine dioxygenase activity [GO:0070579]; oxidative DNA demethylase activity [GO:0035516]; oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors [GO:0016706]; tRNA binding [GO:0000049]; tRNA demethylase activity [GO:1990984]; developmental growth [GO:0048589]; DNA dealkylation involved in DNA repair [GO:0006307]; DNA demethylation [GO:0080111]; DNA repair [GO:0006281]; in utero embryonic development [GO:0001701]; negative regulation of neuron apoptotic process [GO:0043524]; neuron migration [GO:0001764]; neuron projection development [GO:0031175]; oxidative demethylation [GO:0070989]; placenta development [GO:0001890]; regulation of mitochondrial translation [GO:0070129]; regulation of translational elongation [GO:0006448]; regulation of translational initiation [GO:0006446]; RNA repair [GO:0042245]; tRNA demethylation [GO:1990983]; tRNA wobble cytosine modification [GO:0002101]

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:22961808}. Mitochondrion {ECO:0000269|PubMed:17979886, ECO:0000269|PubMed:18603530, ECO:0000269|PubMed:27497299}. Note=Mainly localizes in euchromatin, largely excluded from heterochromatin and nucleoli (By similarity). {ECO:0000250|UniProtKB:P0CB42}.


uniprotID: Q9Y2D5
geneSymbol: AKAP2
name: A-kinase anchor protein 2 (AKAP-2) (AKAP-KL) (Protein kinase A-anchoring protein 2) (PRKA2)
length: 859
go: ENSG00000157654;ENSG00000241978;
snps: rs914358
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=5;  Name=1; IsoId=Q9Y2D5-3; Sequence=Displayed; Name=3; Synonyms=PALM2-AKAP2; IsoId=Q9Y2D5-4; Sequence=VSP_037769, VSP_037771; Note=Based on a naturally occurring readthrough transcript which produces a PALM2-AKAP2 fusion protein.; Name=2; IsoId=Q9Y2D5-5; Sequence=VSP_037770; Name=4; IsoId=Q9Y2D5-6; Sequence=VSP_037769; Note=Based on a naturally occurring readthrough transcript which produces a PALM2-AKAP2 fusion protein.; Name=5; IsoId=Q9Y2D5-7; Sequence=VSP_037770, VSP_037771; 


uniprotID: Q9HAR2
geneSymbol: ADGRL3
pdb: 5CMN;
length: 1447
go: ENSG00000150471;
snps: rs35106420
name:
Adhesion G protein-coupled receptor L3 (Calcium-independent alpha-latrotoxin receptor 3) (CIRL-3) (Latrophilin-3) (Lectomedin-3)

sequence:

opentargets:
axon [GO:0030424]; cell-cell junction [GO:0005911]; glutamatergic synapse [GO:0098978]; integral component of membrane [GO:0016021]; integral component of plasma membrane [GO:0005887]; intracellular [GO:0005622]; calcium ion binding [GO:0005509]; carbohydrate binding [GO:0030246]; G protein-coupled receptor activity [GO:0004930]; adenylate cyclase-activating G protein-coupled receptor signaling pathway [GO:0007189]; brain development [GO:0007420]; cell surface receptor signaling pathway [GO:0007166]; cell-cell adhesion via plasma-membrane adhesion molecules [GO:0098742]; G protein-coupled receptor signaling pathway [GO:0007186]; locomotion involved in locomotory behavior [GO:0031987]; neuron migration [GO:0001764]; positive regulation of synapse assembly [GO:0051965]; response to cocaine [GO:0042220]; synapse assembly [GO:0007416]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=Q9HAR2-1; Sequence=Displayed; Name=2; IsoId=Q9HAR2-2; Sequence=VSP_010235, VSP_010238, VSP_010239, VSP_010240; Name=3; IsoId=Q9HAR2-3; Sequence=VSP_010236, VSP_010237; Note=No experimental confirmation available.; Name=4; IsoId=Q9HAR2-4; Sequence=VSP_010235, VSP_010238; 

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:26235030}; Multi-pass membrane protein {ECO:0000305}. Cell projection, axon {ECO:0000250|UniProtKB:Q80TS3}. Cell junction {ECO:0000250|UniProtKB:Q80TS3}.


uniprotID: Q5CZ79
geneSymbol: ANKRD20A8P
length: 823
go: ENSG00000229089;
name:
Ankyrin repeat domain-containing protein 20B (Ankyrin repeat domain-containing protein 20A pseudogene)

sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q5CZ79-1; Sequence=Displayed; Name=2; IsoId=Q5CZ79-2; Sequence=VSP_032809, VSP_032810; Note=No experimental confirmation available.; 


uniprotID: Q9HDC9
geneSymbol: APMAP
name: Adipocyte plasma membrane-associated protein (Protein BSCv)
length: 416
go: ENSG00000101474;
snps: rs12242 rs35097515 rs28364786
sequence:

opentargets:
cell surface [GO:0009986]; endoplasmic reticulum [GO:0005783]; integral component of membrane [GO:0016021]; membrane [GO:0016020]; arylesterase activity [GO:0004064]; strictosidine synthase activity [GO:0016844]; biosynthetic process [GO:0009058]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9HDC9-1; Sequence=Displayed; Name=2; IsoId=Q9HDC9-2; Sequence=VSP_036992, VSP_036993; 

location:
SUBCELLULAR LOCATION: Membrane {ECO:0000269|PubMed:18513186}; Single-pass type II membrane protein {ECO:0000269|PubMed:18513186}.


uniprotID: Q86X55
geneSymbol: CARM1
pdb: 2Y1W;2Y1X;4IKP;5DWQ;5DX0;5DX1;5DX8;5DXA;5DXJ;5U4X;6ARJ;6ARV;6D2L;6DVR;
length: 608
go: ENSG00000142453;
reactome:
R-HSA-1368082;R-HSA-1368108;R-HSA-1989781;R-HSA-2151201;R-HSA-2426168;R-HSA-3214858;R-HSA-381340;R-HSA-400206;R-HSA-400253;R-HSA-6804114;R-HSA-9018519;

name:
Histone-arginine methyltransferase CARM1 (EC 2.1.1.319) (Coactivator-associated arginine methyltransferase 1) (Protein arginine N-methyltransferase 4)

sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; RNA polymerase II transcription factor complex [GO:0090575]; beta-catenin binding [GO:0008013]; histone methyltransferase activity [GO:0042054]; histone methyltransferase activity (H3-R17 specific) [GO:0035642]; histone-arginine N-methyltransferase activity [GO:0008469]; lysine-acetylated histone binding [GO:0070577]; nuclear receptor transcription coactivator activity [GO:0030374]; protein homodimerization activity [GO:0042803]; protein methyltransferase activity [GO:0008276]; protein-arginine N-methyltransferase activity [GO:0016274]; protein-arginine omega-N asymmetric methyltransferase activity [GO:0035242]; transcription coactivator activity [GO:0003713]; transcription regulatory region DNA binding [GO:0044212]; aging [GO:0007568]; DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest [GO:0006977]; endochondral bone morphogenesis [GO:0060350]; histone arginine methylation [GO:0034969]; histone H3-R17 methylation [GO:0034971]; histone H3-R2 methylation [GO:0034970]; histone methylation [GO:0016571]; intracellular estrogen receptor signaling pathway [GO:0030520]; negative regulation of dendrite development [GO:2000171]; negative regulation of protein binding [GO:0032091]; peptidyl-arginine methylation, to asymmetrical-dimethyl arginine [GO:0019919]; positive regulation of cell proliferation [GO:0008284]; positive regulation of fat cell differentiation [GO:0045600]; positive regulation of NF-kappaB transcription factor activity [GO:0051092]; positive regulation of transcription by RNA polymerase II [GO:0045944]; protein localization to chromatin [GO:0071168]; regulation of growth plate cartilage chondrocyte proliferation [GO:0003420]; regulation of intracellular estrogen receptor signaling pathway [GO:0033146]; regulation of lipid metabolic process [GO:0019216]; regulation of mRNA binding [GO:1902415]; regulation of transcription, DNA-templated [GO:0006355]; response to cAMP [GO:0051591]; viral process [GO:0016032]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=3; IsoId=Q86X55-3; Sequence=Displayed; Name=1; IsoId=Q86X55-1; Sequence=VSP_039876; Name=2; IsoId=Q86X55-2; Sequence=VSP_012506, VSP_012507; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Nucleus. Cytoplasm. Note=Mainly nuclear during the G1, S and G2 phases of the cell cycle. Cytoplasmic during mitosis, after breakup of the nuclear membrane.


uniprotID: Q8N187
geneSymbol: CARF
length: 725
go: ENSG00000138380;
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000250}.
name:
Calcium-responsive transcription factor (Amyotrophic lateral sclerosis 2 chromosomal region candidate gene 8 protein) (Calcium-response factor) (CaRF) (Testis development protein NYD-SP24)

sequence:

opentargets:
nucleolus [GO:0005730]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; DNA binding [GO:0003677]; DNA-binding transcription factor activity [GO:0003700]; proximal promoter DNA-binding transcription activator activity, RNA polymerase II-specific [GO:0001077]; RNA polymerase II proximal promoter sequence-specific DNA binding [GO:0000978]; cellular response to calcium ion [GO:0071277]; cellular response to potassium ion [GO:0035865]; positive regulation of transcription from RNA polymerase II promoter in response to calcium ion [GO:0061400]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q8N187-1; Sequence=Displayed; Name=2; IsoId=Q8N187-2; Sequence=VSP_016785, VSP_016786, VSP_016787; Note=No experimental confirmation available.; Name=3; IsoId=Q8N187-3; Sequence=VSP_055713; 


uniprotID: Q14511
geneSymbol: NEDD9
pdb: 2L81;5X3S;
length: 834
go: ENSG00000111859;
snps: rs11546959 rs34184473 rs3734401
name:
Enhancer of filamentation 1 (hEF1) (CRK-associated substrate-related protein) (CAS-L) (CasL) (Cas scaffolding protein family member 2) (Neural precursor cell expressed developmentally down-regulated protein 9) (NEDD-9) (Renal carcinoma antigen NY-REN-12) (p105) [Cleaved into: Enhancer of filamentation 1 p55]

sequence:

opentargets:
cell cortex [GO:0005938]; cytoplasm [GO:0005737]; cytosol [GO:0005829]; focal adhesion [GO:0005925]; Golgi apparatus [GO:0005794]; lamellipodium [GO:0030027]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; plasma membrane [GO:0005886]; spindle [GO:0005819]; spindle pole [GO:0000922]; protein tyrosine kinase binding [GO:1990782]; actin filament bundle assembly [GO:0051017]; actin filament reorganization [GO:0090527]; cell adhesion [GO:0007155]; cell cycle [GO:0007049]; cell division [GO:0051301]; cell migration [GO:0016477]; cytoskeleton organization [GO:0007010]; integrin-mediated signaling pathway [GO:0007229]; positive regulation of cell migration [GO:0030335]; positive regulation of protein tyrosine kinase activity [GO:0061098]; positive regulation of substrate adhesion-dependent cell spreading [GO:1900026]; regulation of growth [GO:0040008]; signal transduction [GO:0007165]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q14511-1; Sequence=Displayed; Name=2; IsoId=Q14511-2; Sequence=VSP_042835, VSP_042836; Note=No experimental confirmation available.; Name=3; IsoId=Q14511-3; Sequence=VSP_044579; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasm, cell cortex. Nucleus. Golgi apparatus. Cell projection, lamellipodium. Cytoplasm. Cell junction, focal adhesion. Note=Localizes to both the cell nucleus and the cell periphery and is differently localized in fibroblasts and epithelial cells. In fibroblasts is predominantly nuclear and in some cells is present in the Golgi apparatus. In epithelial cells localized predominantly in the cell periphery with particular concentration in lamellipodia but is also found in the nucleus. Isoforms p105 and p115 are predominantly cytoplasmic and associate with focal adhesions while p55 associates with mitotic spindle.; SUBCELLULAR LOCATION: Enhancer of filamentation 1 p55: Cytoplasm, cytoskeleton, spindle.


uniprotID: Q7LC44
geneSymbol: ARC
length: 396
go: ENSG00000198576;
name:
Activity-regulated cytoskeleton-associated protein (hArc) (Activity-regulated gene 3.1 protein homolog) (ARC/ARG3.1) (Arg3.1)

sequence:

opentargets:
acrosomal vesicle [GO:0001669]; actin cytoskeleton [GO:0015629]; cell cortex [GO:0005938]; cell junction [GO:0030054]; cytoplasm [GO:0005737]; dendritic spine [GO:0043197]; early endosome membrane [GO:0031901]; extracellular vesicle [GO:1903561]; glutamatergic synapse [GO:0098978]; membrane raft [GO:0045121]; neuronal cell body [GO:0043025]; plasma membrane [GO:0005886]; postsynaptic density membrane [GO:0098839]; postsynaptic endosome [GO:0098845]; mRNA binding [GO:0003729]; anterior/posterior pattern specification [GO:0009952]; cell migration [GO:0016477]; cytoskeleton organization [GO:0007010]; dendritic spine morphogenesis [GO:0060997]; endocytosis [GO:0006897]; endoderm development [GO:0007492]; learning [GO:0007612]; long-term memory [GO:0007616]; long-term synaptic potentiation [GO:0060291]; mRNA transport [GO:0051028]; positive regulation of AMPA receptor activity [GO:2000969]; protein homooligomerization [GO:0051260]; regulation of cell morphogenesis [GO:0022604]; regulation of dendritic spine morphogenesis [GO:0061001]; regulation of long-term synaptic depression [GO:1900452]; regulation of long-term synaptic potentiation [GO:1900271]; regulation of neuronal synaptic plasticity [GO:0048168]; regulation of postsynaptic neurotransmitter receptor internalization [GO:0099149]; vesicle-mediated intercellular transport [GO:0110077]

location:
SUBCELLULAR LOCATION: Extracellular vesicle membrane {ECO:0000250|UniProtKB:Q63053}; Lipid-anchor {ECO:0000250|UniProtKB:Q9WV31}. Cell junction, synapse, postsynaptic cell membrane {ECO:0000250|UniProtKB:Q9WV31}; Lipid-anchor {ECO:0000250|UniProtKB:Q9WV31}. Cell junction, synapse {ECO:0000250|UniProtKB:Q63053}. Cell junction, synapse, postsynaptic cell membrane, postsynaptic density {ECO:0000250|UniProtKB:Q63053}. Early endosome membrane {ECO:0000250|UniProtKB:Q63053}. Cell projection, dendrite {ECO:0000250|UniProtKB:Q63053}. Cytoplasm, cytoskeleton {ECO:0000269|PubMed:21834987}. Cytoplasm, cell cortex {ECO:0000250|UniProtKB:Q63053}. Cell projection, dendritic spine {ECO:0000250|UniProtKB:Q63053}. Cytoplasmic vesicle, secretory vesicle, acrosome {ECO:0000250|UniProtKB:Q9WV31}. Note=Forms virion-like extracellular vesicles that are released from neurons. Enriched in postsynaptic density of dendritic spines. Targeted to inactive synapses following interaction with CAMK2B in the kinase inactive state. Accumulation at weaker synapses may be required to prevent their undesired enhancement. Associated with the cell cortex of neuronal soma and dendrites (By similarity). Associated with the sperm tail (By similarity). {ECO:0000250|UniProtKB:Q63053, ECO:0000250|UniProtKB:Q9WV31}.


uniprotID: P55211
geneSymbol: CASP9
pdb: 1JXQ;1NW9;2AR9;3D9T;3V3K;3YGS;4RHW;5JUY;5WVC;5WVE;
length: 416
go: ENSG00000132906;
reactome:
R-HSA-111458;R-HSA-111459;R-HSA-111463;R-HSA-111464;R-HSA-168638;R-HSA-198323;R-HSA-418889;R-HSA-5674400;

name:
Caspase-9 (CASP-9) (EC 3.4.22.62) (Apoptotic protease Mch-6) (Apoptotic protease-activating factor 3) (APAF-3) (ICE-like apoptotic protease 6) (ICE-LAP6) [Cleaved into: Caspase-9 subunit p35; Caspase-9 subunit p10]

sequence:

opentargets:
apoptosome [GO:0043293]; cytoplasm [GO:0005737]; cytosol [GO:0005829]; mitochondrion [GO:0005739]; nucleus [GO:0005634]; protein-containing complex [GO:0032991]; cysteine-type endopeptidase activity [GO:0004197]; cysteine-type endopeptidase activity involved in apoptotic process [GO:0097153]; cysteine-type endopeptidase activity involved in apoptotic signaling pathway [GO:0097199]; enzyme activator activity [GO:0008047]; identical protein binding [GO:0042802]; peptidase activity [GO:0008233]; protein kinase binding [GO:0019901]; SH3 domain binding [GO:0017124]; activation of cysteine-type endopeptidase activity involved in apoptotic process by cytochrome c [GO:0008635]; aging [GO:0007568]; apoptotic process [GO:0006915]; cellular response to dexamethasone stimulus [GO:0071549]; cellular response to DNA damage stimulus [GO:0006974]; cellular response to UV [GO:0034644]; extrinsic apoptotic signaling pathway in absence of ligand [GO:0097192]; glial cell apoptotic process [GO:0034349]; intrinsic apoptotic signaling pathway in response to DNA damage [GO:0008630]; kidney development [GO:0001822]; leukocyte apoptotic process [GO:0071887]; platelet formation [GO:0030220]; positive regulation of apoptotic process [GO:0043065]; positive regulation of neuron apoptotic process [GO:0043525]; regulation of response to DNA damage stimulus [GO:2001020]; response to antibiotic [GO:0046677]; response to cobalt ion [GO:0032025]; response to estradiol [GO:0032355]; response to ischemia [GO:0002931]; response to lipopolysaccharide [GO:0032496]; signal transduction in response to DNA damage [GO:0042770]

snps:
rs1052571 rs4646008 rs2308941 rs2308938 rs2020897 rs1132312 rs2308950 rs2308949 rs9282624 rs2308939 rs1052576 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; Synonyms=9L, Alpha; IsoId=P55211-1; Sequence=Displayed; Name=2; Synonyms=9S, Beta; IsoId=P55211-2; Sequence=VSP_000818; Name=3; Synonyms=Gamma; IsoId=P55211-3; Sequence=VSP_043910, VSP_043911; Note=May function as an endogenous apoptotic inhibitor, inhibits the BAX-mediated cleavage of procaspase-3.; Name=4; IsoId=P55211-4; Sequence=VSP_044256; 


uniprotID: Q8N6T3
geneSymbol: ARFGAP1
reactome: R-HSA-381038;R-HSA-6807878;R-HSA-6811434;R-HSA-8856828;
pdb: 3DWD;3O47;
length: 406
go: ENSG00000101199;
snps: rs2273499
name:
ADP-ribosylation factor GTPase-activating protein 1 (ARF GAP 1) (ADP-ribosylation factor 1 GTPase-activating protein) (ARF1 GAP) (ARF1-directed GTPase-activating protein)

sequence:

opentargets:
cytosol [GO:0005829]; Golgi membrane [GO:0000139]; postsynaptic density [GO:0014069]; synapse [GO:0045202]; GTPase activator activity [GO:0005096]; metal ion binding [GO:0046872]; ER to Golgi vesicle-mediated transport [GO:0006888]; IRE1-mediated unfolded protein response [GO:0036498]; protein transport [GO:0015031]; regulation of ARF protein signal transduction [GO:0032012]; regulation of endocytosis [GO:0030100]; retrograde vesicle-mediated transport, Golgi to ER [GO:0006890]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=5;  Name=1; IsoId=Q8N6T3-1; Sequence=Displayed; Name=2; IsoId=Q8N6T3-2; Sequence=VSP_000298, VSP_000299; Note=No experimental confirmation available.; Name=3; IsoId=Q8N6T3-3; Sequence=VSP_021818; Name=4; IsoId=Q8N6T3-4; Sequence=VSP_055379, VSP_055380; Note=No experimental confirmation available.; Name=5; IsoId=Q8N6T3-5; Sequence=VSP_055739, VSP_000298, VSP_000299; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250}. Golgi apparatus {ECO:0000250}. Note=Associates with the Golgi complex. {ECO:0000250}.


uniprotID: Q8N6H7
geneSymbol: ARFGAP2
reactome: R-HSA-6807878;R-HSA-6811434;
pdb: 2P57;
length: 521
go: ENSG00000149182;
snps: rs11542793 rs34662994 rs35950498 rs3740691
name:
ADP-ribosylation factor GTPase-activating protein 2 (ARF GAP 2) (GTPase-activating protein ZNF289) (Zinc finger protein 289)

sequence:

opentargets:
cytosol [GO:0005829]; endoplasmic reticulum-Golgi intermediate compartment [GO:0005793]; Golgi apparatus [GO:0005794]; Golgi membrane [GO:0000139]; plasma membrane [GO:0005886]; trans-Golgi network [GO:0005802]; GTPase activator activity [GO:0005096]; metal ion binding [GO:0046872]; COPI coating of Golgi vesicle [GO:0048205]; ER to Golgi vesicle-mediated transport [GO:0006888]; protein transport [GO:0015031]; retrograde vesicle-mediated transport, Golgi to ER [GO:0006890]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q8N6H7-1; Sequence=Displayed; Name=2; IsoId=Q8N6H7-2; Sequence=VSP_056055, VSP_056056; Note=No experimental confirmation available.; Name=3; IsoId=Q8N6H7-3; Sequence=VSP_056054; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:17760859}. Golgi apparatus membrane {ECO:0000269|PubMed:17760859}; Peripheral membrane protein {ECO:0000269|PubMed:17760859}; Cytoplasmic side {ECO:0000269|PubMed:17760859}. Note=Also found on peripheral punctate structures likely to be endoplasmic reticulum-Golgi intermediate compartment.


uniprotID: Q9NQ75
geneSymbol: CASS4
pdb: 2CRE;
name: Cas scaffolding protein family member 4 (HEF-like protein) (HEF1-EFS-p130Cas-like protein) (HEPL)
length: 786
go: ENSG00000087589;
snps: rs16979936 rs6069755 rs35031530 rs7272702
sequence:

opentargets:
cytoplasm [GO:0005737]; cytoskeleton [GO:0005856]; focal adhesion [GO:0005925]; protein tyrosine kinase binding [GO:1990782]; actin filament reorganization [GO:0090527]; cell adhesion [GO:0007155]; cell migration [GO:0016477]; positive regulation of cell migration [GO:0030335]; positive regulation of protein tyrosine kinase activity [GO:0061098]; positive regulation of substrate adhesion-dependent cell spreading [GO:1900026]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Comment=Experimental confirmation may be lacking for some isoforms.; Name=1; IsoId=Q9NQ75-1; Sequence=Displayed; Name=2; IsoId=Q9NQ75-2; Sequence=VSP_003807; Note=No experimental confirmation available.; Name=3; IsoId=Q9NQ75-3; Sequence=VSP_003806; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton {ECO:0000269|PubMed:18256281}. Cell junction, focal adhesion {ECO:0000269|PubMed:18256281}.


uniprotID: Q86V15
geneSymbol: CASZ1
length: 1759
go: ENSG00000130940;
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:16631614}.
name:
Zinc finger protein castor homolog 1 (Castor-related protein) (Putative survival-related protein) (Zinc finger protein 693)

sequence:

opentargets:
cytosol [GO:0005829]; intracellular membrane-bounded organelle [GO:0043231]; nucleoplasm [GO:0005654]; DNA binding [GO:0003677]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; metal ion binding [GO:0046872]; multicellular organism development [GO:0007275]; positive regulation of transcription, DNA-templated [GO:0045893]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; Synonyms=hCASZ11; IsoId=Q86V15-1; Sequence=Displayed; Name=2; Synonyms=hCASZ5; IsoId=Q86V15-2; Sequence=VSP_027093, VSP_027094; 


uniprotID: P08311
geneSymbol: CTSG
reactome: R-HSA-1474228;R-HSA-1592389;R-HSA-2022377;R-HSA-381426;R-HSA-6798695;R-HSA-6803157;
pdb: 1AU8;1CGH;1KYN;1T32;
name: Cathepsin G (CG) (EC 3.4.21.20)
length: 255
go: ENSG00000100448;
drug: DB04016;DB02360;
snps: rs45567233
location: SUBCELLULAR LOCATION: Cell surface {ECO:0000269|PubMed:8194606}.
sequence:

opentargets:
azurophil granule lumen [GO:0035578]; cell surface [GO:0009986]; collagen-containing extracellular matrix [GO:0062023]; cytoplasm [GO:0005737]; cytoplasmic stress granule [GO:0010494]; extracellular exosome [GO:0070062]; extracellular region [GO:0005576]; extracellular space [GO:0005615]; nucleus [GO:0005634]; plasma membrane [GO:0005886]; secretory granule [GO:0030141]; heparin binding [GO:0008201]; peptidase activity [GO:0008233]; serine-type endopeptidase activity [GO:0004252]; serine-type peptidase activity [GO:0008236]; angiotensin maturation [GO:0002003]; antibacterial humoral response [GO:0019731]; antimicrobial humoral response [GO:0019730]; cellular protein metabolic process [GO:0044267]; cellular response to lipopolysaccharide [GO:0071222]; defense response to fungus [GO:0050832]; defense response to Gram-negative bacterium [GO:0050829]; extracellular matrix disassembly [GO:0022617]; immune response [GO:0006955]; negative regulation of growth of symbiont in host [GO:0044130]; neutrophil degranulation [GO:0043312]; neutrophil mediated killing of gram-positive bacterium [GO:0070946]; positive regulation of immune response [GO:0050778]; protein phosphorylation [GO:0006468]; proteolysis [GO:0006508]


uniprotID: P09668
geneSymbol: CTSH
reactome: R-HSA-2132295;R-HSA-5683826;R-HSA-6798695;
pdb: 1BZN;6CZK;6CZS;
length: 335
go: ENSG00000103811;
drug: DB08526;DB04126;DB02140;DB03120;
snps: rs2289702 rs35001431 rs1036938 rs1130856
location: SUBCELLULAR LOCATION: Lysosome.
name:
Pro-cathepsin H [Cleaved into: Cathepsin H mini chain; Cathepsin H (EC 3.4.22.16); Cathepsin H heavy chain; Cathepsin H light chain]

sequence:

opentargets:
alveolar lamellar body [GO:0097208]; cytoplasmic ribonucleoprotein granule [GO:0036464]; cytosol [GO:0005829]; extracellular exosome [GO:0070062]; extracellular region [GO:0005576]; extracellular space [GO:0005615]; ficolin-1-rich granule lumen [GO:1904813]; intracellular membrane-bounded organelle [GO:0043231]; lysosome [GO:0005764]; multivesicular body lumen [GO:0097486]; secretory granule lumen [GO:0034774]; tertiary granule lumen [GO:1904724]; aminopeptidase activity [GO:0004177]; cysteine-type endopeptidase activator activity involved in apoptotic process [GO:0008656]; cysteine-type endopeptidase activity [GO:0004197]; cysteine-type peptidase activity [GO:0008234]; endopeptidase activity [GO:0004175]; HLA-A specific activating MHC class I receptor activity [GO:0030108]; peptidase activity [GO:0008233]; serine-type endopeptidase activity [GO:0004252]; thyroid hormone binding [GO:0070324]; adaptive immune response [GO:0002250]; antigen processing and presentation [GO:0019882]; bradykinin catabolic process [GO:0010815]; cellular protein metabolic process [GO:0044267]; cellular response to thyroid hormone stimulus [GO:0097067]; dichotomous subdivision of terminal units involved in lung branching [GO:0060448]; ERK1 and ERK2 cascade [GO:0070371]; immune response-regulating signaling pathway [GO:0002764]; membrane protein proteolysis [GO:0033619]; metanephros development [GO:0001656]; negative regulation of apoptotic process [GO:0043066]; neuropeptide catabolic process [GO:0010813]; neutrophil degranulation [GO:0043312]; positive regulation of angiogenesis [GO:0045766]; positive regulation of apoptotic signaling pathway [GO:2001235]; positive regulation of cell migration [GO:0030335]; positive regulation of cell proliferation [GO:0008284]; positive regulation of epithelial cell migration [GO:0010634]; positive regulation of gene expression [GO:0010628]; positive regulation of peptidase activity [GO:0010952]; protein destabilization [GO:0031648]; proteolysis [GO:0006508]; proteolysis involved in cellular protein catabolic process [GO:0051603]; response to retinoic acid [GO:0032526]; surfactant homeostasis [GO:0043129]; T cell mediated cytotoxicity [GO:0001913]; zymogen activation [GO:0031638]


uniprotID: P07711
geneSymbol: CTSL
reactome: R-HSA-1236977;R-HSA-1442490;R-HSA-1474228;R-HSA-1679131;R-HSA-2022090;R-HSA-2132295;R-HSA-8939242;
length: 333
go: ENSG00000135047;
drug: DB07477;DB03661;
location: SUBCELLULAR LOCATION: Lysosome.
pdb:
1CJL;1CS8;1ICF;1MHW;2NQD;2VHS;2XU1;2XU3;2XU4;2XU5;2YJ2;2YJ8;2YJ9;2YJB;2YJC;3BC3;3H89;3H8B;3H8C;3HHA;3HWN;3IV2;3K24;3KSE;3OF8;3OF9;4AXL;4AXM;5F02;5I4H;5MAE;5MAJ;5MQY;6EZP;6EZX;6F06;

name:
Cathepsin L1 (EC 3.4.22.15) (Cathepsin L) (Major excreted protein) (MEP) [Cleaved into: Cathepsin L1 heavy chain; Cathepsin L1 light chain]

sequence:

opentargets:
endolysosome lumen [GO:0036021]; extracellular exosome [GO:0070062]; extracellular region [GO:0005576]; extracellular space [GO:0005615]; lysosomal lumen [GO:0043202]; lysosome [GO:0005764]; nucleus [GO:0005634]; collagen binding [GO:0005518]; cysteine-type endopeptidase activity [GO:0004197]; cysteine-type peptidase activity [GO:0008234]; fibronectin binding [GO:0001968]; histone binding [GO:0042393]; proteoglycan binding [GO:0043394]; serine-type endopeptidase activity [GO:0004252]; serpin family protein binding [GO:0097655]; adaptive immune response [GO:0002250]; antigen processing and presentation [GO:0019882]; antigen processing and presentation of exogenous peptide antigen via MHC class II [GO:0019886]; cellular response to thyroid hormone stimulus [GO:0097067]; collagen catabolic process [GO:0030574]; extracellular matrix disassembly [GO:0022617]; macrophage apoptotic process [GO:0071888]; proteolysis [GO:0006508]; proteolysis involved in cellular protein catabolic process [GO:0051603]; regulation of keratinocyte differentiation [GO:0045616]


uniprotID: P78540
geneSymbol: ARG2
reactome: R-HSA-70635;
pdb: 1PQ3;4HZE;4I06;4IE2;4IE3;4IXU;4IXV;
length: 354
go: ENSG00000081181;
drug: DB00125;DB00129;DB03731;
snps: rs17104534
location: SUBCELLULAR LOCATION: Mitochondrion {ECO:0000269|PubMed:8898077}.
name:
Arginase-2, mitochondrial (EC 3.5.3.1) (Arginase II) (Kidney-type arginase) (Non-hepatic arginase) (Type II arginase)

sequence:

opentargets:
cytoplasm [GO:0005737]; mitochondrial matrix [GO:0005759]; mitochondrion [GO:0005739]; arginase activity [GO:0004053]; manganese ion binding [GO:0030145]; adaptive immune response [GO:0002250]; arginine catabolic process to ornithine [GO:0019547]; innate immune response [GO:0045087]; negative regulation of activated CD8-positive, alpha-beta T cell apoptotic process [GO:1905403]; negative regulation of CD4-positive, alpha-beta T cell proliferation [GO:2000562]; negative regulation of chemokine (C-C motif) ligand 4 production [GO:0071644]; negative regulation of chemokine (C-C motif) ligand 5 production [GO:0071650]; negative regulation of defense response to bacterium [GO:1900425]; negative regulation of interleukin-13 secretion [GO:2000666]; negative regulation of interleukin-17 secretion [GO:1905077]; negative regulation of macrophage inflammatory protein 1 alpha production [GO:0071641]; negative regulation of tumor necrosis factor production [GO:0032720]; negative regulation of tumor necrosis factor secretion [GO:1904468]; negative regulation of type 2 immune response [GO:0002829]; nitric oxide biosynthetic process [GO:0006809]; positive regulation of cellular senescence [GO:2000774]; regulation of interleukin-1 beta secretion [GO:0050706]; regulation of reactive oxygen species biosynthetic process [GO:1903426]; striated muscle contraction [GO:0006941]; urea cycle [GO:0000050]; ureteric bud development [GO:0001657]


uniprotID: P05089
geneSymbol: ARG1
reactome: R-HSA-6798695;R-HSA-70635;
name: Arginase-1 (EC 3.5.3.1) (Liver-type arginase) (Type I arginase)
length: 322
go: ENSG00000118520;
drug: DB01983;DB04585;DB04197;DB02499;DB00129;DB03144;DB02381;DB03731;DB04648;DB02689;DB03904;
snps: rs28941474 rs104893943 rs104893948 rs104893942 rs377280518
pdb:
1WVA;1WVB;2AEB;2PHA;2PHO;2PLL;2ZAV;3DJ8;3E6K;3E6V;3F80;3GMZ;3GN0;3KV2;3LP4;3LP7;3MFV;3MFW;3MJL;3SJT;3SKK;3TF3;3TH7;3THE;3THH;3THJ;4FCI;4FCK;4GSM;4GSV;4GSZ;4GWC;4GWD;4HWW;4HXQ;4IE1;

sequence:

opentargets:
azurophil granule lumen [GO:0035578]; cytoplasm [GO:0005737]; cytosol [GO:0005829]; extracellular region [GO:0005576]; extracellular space [GO:0005615]; mitochondrial outer membrane [GO:0005741]; neuron projection [GO:0043005]; neuronal cell body [GO:0043025]; nucleus [GO:0005634]; specific granule lumen [GO:0035580]; arginase activity [GO:0004053]; manganese ion binding [GO:0030145]; adaptive immune response [GO:0002250]; aging [GO:0007568]; arginine catabolic process [GO:0006527]; arginine catabolic process to ornithine [GO:0019547]; cellular response to dexamethasone stimulus [GO:0071549]; cellular response to glucagon stimulus [GO:0071377]; cellular response to hydrogen peroxide [GO:0070301]; cellular response to interleukin-4 [GO:0071353]; cellular response to lipopolysaccharide [GO:0071222]; cellular response to transforming growth factor beta stimulus [GO:0071560]; collagen biosynthetic process [GO:0032964]; defense response to protozoan [GO:0042832]; innate immune response [GO:0045087]; liver development [GO:0001889]; lung development [GO:0030324]; mammary gland involution [GO:0060056]; maternal process involved in female pregnancy [GO:0060135]; negative regulation of activated T cell proliferation [GO:0046007]; negative regulation of interferon-gamma-mediated signaling pathway [GO:0060336]; negative regulation of T cell proliferation [GO:0042130]; negative regulation of T-helper 2 cell cytokine production [GO:2000552]; neutrophil degranulation [GO:0043312]; positive regulation of endothelial cell proliferation [GO:0001938]; positive regulation of neutrophil mediated killing of fungus [GO:0070965]; protein homotrimerization [GO:0070207]; regulation of L-arginine import [GO:0010963]; response to amine [GO:0014075]; response to amino acid [GO:0043200]; response to axon injury [GO:0048678]; response to cadmium ion [GO:0046686]; response to herbicide [GO:0009635]; response to manganese ion [GO:0010042]; response to methylmercury [GO:0051597]; response to selenium ion [GO:0010269]; response to vitamin A [GO:0033189]; response to vitamin E [GO:0033197]; response to zinc ion [GO:0010043]; urea cycle [GO:0000050]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=P05089-1; Sequence=Displayed; Name=2; Synonyms=Erythroid variant; IsoId=P05089-2; Sequence=VSP_009330; Note=May be due to a competing acceptor splice site. No experimental confirmation available.; Name=3; IsoId=P05089-3; Sequence=VSP_009331; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:16141327}. Cytoplasmic granule {ECO:0000269|PubMed:15546957}. Note=Localized in azurophil granules of neutrophils (PubMed:15546957). {ECO:0000269|PubMed:15546957}.


uniprotID: Q9BXY5
geneSymbol: CAPS2
name: Calcyphosin-2 (Calcyphosine-2)
length: 557
go: ENSG00000180881;
opentargets: calcium ion binding [GO:0005509]
snps: rs10879901
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q9BXY5-1; Sequence=Displayed; Name=2; IsoId=Q9BXY5-2; Sequence=VSP_014408, VSP_014410; Name=3; IsoId=Q9BXY5-3; Sequence=VSP_014408, VSP_014409; 


uniprotID: Q8N5S3
geneSymbol: C2orf73
name: Uncharacterized protein C2orf73
length: 287
go: ENSG00000177994;
snps: rs55714450 rs2280718 rs13184
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q8N5S3-1; Sequence=Displayed; Name=2; IsoId=Q8N5S3-2; Sequence=VSP_033353; 


uniprotID: Q6P9G0
geneSymbol: CYB5D1
name: Cytochrome b5 domain-containing protein 1
length: 228
go: ENSG00000182224;
opentargets: metal ion binding [GO:0046872]
snps: rs12453250
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q6P9G0-1; Sequence=Displayed; Name=2; IsoId=Q6P9G0-2; Sequence=VSP_029823, VSP_029824; 


uniprotID: A1IGU5
geneSymbol: ARHGEF37
reactome: R-HSA-193648;R-HSA-194840;R-HSA-416482;
name: Rho guanine nucleotide exchange factor 37
length: 675
go: ENSG00000183111;
snps: rs4629585 rs9324624 rs7732714 rs3733662 rs1135093
sequence:

opentargets:
cytoplasm [GO:0005737]; Rho guanyl-nucleotide exchange factor activity [GO:0005089]; regulation of Rho protein signal transduction [GO:0035023]


uniprotID: Q9NXL2
geneSymbol: ARHGEF38
reactome: R-HSA-193648;R-HSA-194840;R-HSA-416482;
name: Rho guanine nucleotide exchange factor 38
length: 777
go: ENSG00000236699;
snps: rs2276970
sequence:

opentargets:
cytoplasm [GO:0005737]; Rho guanyl-nucleotide exchange factor activity [GO:0005089]; regulation of Rho protein signal transduction [GO:0035023]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=2; IsoId=Q9NXL2-2; Sequence=Displayed; Note=Gene prediction based on EST data.; Name=1; IsoId=Q9NXL2-1; Sequence=VSP_053830; 


uniprotID: Q8IVU9
geneSymbol: CABCOCO1
name: Ciliary-associated calcium-binding coiled-coil protein 1
length: 208
go: ENSG00000183346;
sequence:

opentargets:
centrosome [GO:0005813]; cytoplasm [GO:0005737]; sperm flagellum [GO:0036126]; calcium ion binding [GO:0005509]

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250|UniProtKB:Q8CDT7}. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome {ECO:0000250|UniProtKB:Q8CDT7}. Cell projection, cilium, flagellum {ECO:0000250|UniProtKB:Q8CDT7}. Note=Colocalized with pericentrin at centrosome of spermatocytes and round spermatids. {ECO:0000250|UniProtKB:Q8CDT7}.


uniprotID: Q9NR81
geneSymbol: ARHGEF3
reactome: R-HSA-193648;R-HSA-194840;R-HSA-416482;
length: 526
go: ENSG00000163947;
snps: rs3732507 rs3772219
location: SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250}.
name:
Rho guanine nucleotide exchange factor 3 (Exchange factor found in platelets and leukemic and neuronal tissues) (XPLN)

sequence:

opentargets:
cytosol [GO:0005829]; intracellular [GO:0005622]; guanyl-nucleotide exchange factor activity [GO:0005085]; Rho guanyl-nucleotide exchange factor activity [GO:0005089]; G protein-coupled receptor signaling pathway [GO:0007186]; positive regulation of apoptotic process [GO:0043065]; regulation of Rho protein signal transduction [GO:0035023]; regulation of small GTPase mediated signal transduction [GO:0051056]; Rho protein signal transduction [GO:0007266]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=Q9NR81-1; Sequence=Displayed; Name=2; IsoId=Q9NR81-2; Sequence=VSP_011612; Note=No experimental confirmation available.; Name=3; IsoId=Q9NR81-3; Sequence=VSP_027205; Note=No experimental confirmation available.; Name=4; IsoId=Q9NR81-4; Sequence=VSP_027204, VSP_027206; Note=No experimental confirmation available.; 


uniprotID: Q12774
geneSymbol: ARHGEF5
reactome: R-HSA-193648;R-HSA-194840;R-HSA-416482;
length: 1597
go: ENSG00000050327;
name:
Rho guanine nucleotide exchange factor 5 (Ephexin-3) (Guanine nucleotide regulatory protein TIM) (Oncogene TIM) (Transforming immortalized mammary oncogene) (p60 TIM)

sequence:

opentargets:
cell junction [GO:0030054]; cell periphery [GO:0071944]; cell projection [GO:0042995]; cytoplasm [GO:0005737]; cytosol [GO:0005829]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; plasma membrane [GO:0005886]; podosome [GO:0002102]; GTP binding [GO:0005525]; guanyl-nucleotide exchange factor activity [GO:0005085]; lipid binding [GO:0008289]; Rho guanyl-nucleotide exchange factor activity [GO:0005089]; actin cytoskeleton organization [GO:0030036]; G protein-coupled receptor signaling pathway [GO:0007186]; intracellular signal transduction [GO:0035556]; myeloid dendritic cell chemotaxis [GO:0002408]; positive regulation of apoptotic process [GO:0043065]; positive regulation of DNA-binding transcription factor activity [GO:0051091]; positive regulation of GTPase activity [GO:0043547]; positive regulation of JUN kinase activity [GO:0043507]; positive regulation of podosome assembly [GO:0071803]; positive regulation of protein import [GO:1904591]; positive regulation of stress fiber assembly [GO:0051496]; regulation of actin cytoskeleton organization [GO:0032956]; regulation of cytoskeleton organization [GO:0051493]; regulation of GTPase activity [GO:0043087]; regulation of Rho protein signal transduction [GO:0035023]; regulation of small GTPase mediated signal transduction [GO:0051056]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Comment=A number of additional isoforms are detected in primary breast tumors but not in normal tissues. {ECO:0000269|PubMed:14662653}; Name=1; IsoId=Q12774-1; Sequence=Displayed; Name=2; IsoId=Q12774-2; Sequence=VSP_035175; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:14662653, ECO:0000269|PubMed:25911094}. Nucleus {ECO:0000269|PubMed:14662653}. Cell projection, podosome {ECO:0000250|UniProtKB:E9Q7D5}.


uniprotID: Q14155
geneSymbol: ARHGEF7
reactome: R-HSA-182971;R-HSA-193648;R-HSA-194840;R-HSA-3928664;R-HSA-416482;
pdb: 1BY1;1ZSG;2L3G;5SXP;
length: 803
go: ENSG00000102606;
name:
Rho guanine nucleotide exchange factor 7 (Beta-Pix) (COOL-1) (PAK-interacting exchange factor beta) (p85)

sequence:

opentargets:
cell cortex [GO:0005938]; cytosol [GO:0005829]; focal adhesion [GO:0005925]; lamellipodium [GO:0030027]; neuron projection [GO:0043005]; neuronal cell body [GO:0043025]; plasma membrane [GO:0005886]; protein-containing complex [GO:0032991]; ruffle [GO:0001726]; storage vacuole [GO:0000322]; guanyl-nucleotide exchange factor activity [GO:0005085]; protein kinase binding [GO:0019901]; Rho guanyl-nucleotide exchange factor activity [GO:0005089]; ephrin receptor signaling pathway [GO:0048013]; focal adhesion assembly [GO:0048041]; G protein-coupled receptor signaling pathway [GO:0007186]; Golgi organization [GO:0007030]; hematopoietic progenitor cell differentiation [GO:0002244]; intracellular signal transduction [GO:0035556]; lamellipodium assembly [GO:0030032]; negative regulation of epidermal growth factor receptor signaling pathway [GO:0042059]; nervous system development [GO:0007399]; positive regulation of apoptotic process [GO:0043065]; positive regulation of fibroblast migration [GO:0010763]; positive regulation of growth hormone secretion [GO:0060124]; positive regulation of GTPase activity [GO:0043547]; positive regulation of lamellipodium morphogenesis [GO:2000394]; positive regulation of protein binding [GO:0032092]; positive regulation of substrate adhesion-dependent cell spreading [GO:1900026]; regulation of GTP binding [GO:1904424]; regulation of Rho protein signal transduction [GO:0035023]; regulation of small GTPase mediated signal transduction [GO:0051056]; signal transduction [GO:0007165]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=6;  Name=4; IsoId=Q14155-4; Sequence=Displayed; Name=1; IsoId=Q14155-1; Sequence=VSP_011032, VSP_011035; Name=2; IsoId=Q14155-2; Sequence=VSP_011033; Name=3; IsoId=Q14155-3; Sequence=VSP_011034; Name=5; IsoId=Q14155-5; Sequence=VSP_034639, VSP_011035; Name=6; IsoId=Q14155-6; Sequence=VSP_011032; 

location:
SUBCELLULAR LOCATION: Cell junction, focal adhesion {ECO:0000250}. Cell projection, ruffle {ECO:0000250}. Cytoplasm, cell cortex {ECO:0000250}. Cell projection, lamellipodium {ECO:0000250}. Note=Detected at cell adhesions. A small proportion is detected at focal adhesions.


uniprotID: Q5SW96
geneSymbol: LDLRAP1
reactome: R-HSA-8856825;R-HSA-8856828;R-HSA-8964026;R-HSA-8964038;
pdb: 2G30;
length: 308
go: ENSG00000157978;
snps: rs752849346 rs386629678 rs6687605
location: SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:12451172}.
name:
Low density lipoprotein receptor adapter protein 1 (Autosomal recessive hypercholesterolemia protein)

sequence:

opentargets:
axon [GO:0030424]; basal plasma membrane [GO:0009925]; clathrin-coated vesicle membrane [GO:0030665]; cytoplasmic side of plasma membrane [GO:0009898]; cytosol [GO:0005829]; early endosome [GO:0005769]; neurofilament [GO:0005883]; plasma membrane [GO:0005886]; recycling endosome [GO:0055037]; amyloid-beta binding [GO:0001540]; AP-1 adaptor complex binding [GO:0035650]; AP-2 adaptor complex binding [GO:0035612]; clathrin adaptor activity [GO:0035615]; clathrin binding [GO:0030276]; low-density lipoprotein particle receptor binding [GO:0050750]; phosphatidylinositol-4,5-bisphosphate binding [GO:0005546]; phosphotyrosine residue binding [GO:0001784]; receptor signaling complex scaffold activity [GO:0030159]; signaling adaptor activity [GO:0035591]; amyloid precursor protein metabolic process [GO:0042982]; cellular response to cytokine stimulus [GO:0071345]; cholesterol homeostasis [GO:0042632]; cholesterol metabolic process [GO:0008203]; cholesterol transport [GO:0030301]; low-density lipoprotein particle clearance [GO:0034383]; membrane organization [GO:0061024]; positive regulation of cholesterol metabolic process [GO:0090205]; positive regulation of low-density lipoprotein particle clearance [GO:1905581]; positive regulation of receptor-mediated endocytosis [GO:0048260]; positive regulation of receptor-mediated endocytosis involved in cholesterol transport [GO:1905602]; positive regulation of vascular smooth muscle cell proliferation [GO:1904707]; receptor internalization [GO:0031623]; receptor-mediated endocytosis [GO:0006898]; receptor-mediated endocytosis involved in cholesterol transport [GO:0090118]; regulation of protein binding [GO:0043393]; regulation of protein localization to plasma membrane [GO:1903076]


uniprotID: O43307
geneSymbol: ARHGEF9
reactome: R-HSA-112314;R-HSA-193648;R-HSA-194840;R-HSA-416482;R-HSA-977441;
pdb: 2YSQ;
length: 516
go: ENSG00000131089;
snps: rs121918361
name:
Rho guanine nucleotide exchange factor 9 (Collybistin) (PEM-2 homolog) (Rac/Cdc42 guanine nucleotide exchange factor 9)

sequence:

opentargets:
cell junction [GO:0030054]; cytosol [GO:0005829]; GABA-ergic synapse [GO:0098982]; postsynaptic density [GO:0014069]; postsynaptic membrane [GO:0045211]; guanyl-nucleotide exchange factor activity [GO:0005085]; Rho guanyl-nucleotide exchange factor activity [GO:0005089]; G protein-coupled receptor signaling pathway [GO:0007186]; positive regulation of apoptotic process [GO:0043065]; regulation of postsynaptic specialization assembly [GO:0099150]; regulation of Rho protein signal transduction [GO:0035023]; regulation of small GTPase mediated signal transduction [GO:0051056]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; Synonyms=CB3(SH3+); IsoId=O43307-1; Sequence=Displayed; Name=2; Synonyms=CB3(SH3-); IsoId=O43307-2; Sequence=VSP_042920, VSP_042921; Name=3; IsoId=O43307-3; Sequence=VSP_044555; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:10559246}. Cell junction, synapse, postsynaptic cell membrane, postsynaptic density {ECO:0000250|UniProtKB:Q3UTH8}.


uniprotID: O15013
geneSymbol: ARHGEF10
reactome: R-HSA-193648;R-HSA-194840;R-HSA-416482;
name: Rho guanine nucleotide exchange factor 10
length: 1369
go: ENSG00000104728;
snps: rs767902219 rs28940281 rs2294039 rs2294039
sequence:

opentargets:
centrosome [GO:0005813]; cytosol [GO:0005829]; guanyl-nucleotide exchange factor activity [GO:0005085]; kinesin binding [GO:0019894]; Rho guanyl-nucleotide exchange factor activity [GO:0005089]; actin cytoskeleton organization [GO:0030036]; activation of GTPase activity [GO:0090630]; centrosome duplication [GO:0051298]; mitotic spindle assembly [GO:0090307]; myelination in peripheral nervous system [GO:0022011]; positive regulation of stress fiber assembly [GO:0051496]; regulation of Rho protein signal transduction [GO:0035023]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=5;  Name=1; IsoId=O15013-1; Sequence=Displayed; Note=No experimental confirmation available.; Name=2; IsoId=O15013-6; Sequence=VSP_040757; Name=3; IsoId=O15013-7; Sequence=VSP_040754, VSP_040756; Name=4; IsoId=O15013-4; Sequence=VSP_010704; Note=No experimental confirmation available.; Name=5; IsoId=O15013-5; Sequence=VSP_040754, VSP_040755; 


uniprotID: O14497
geneSymbol: ARID1A
reactome: R-HSA-3214858;R-HSA-8939243;
pdb: 1RYU;
length: 2285
go: ENSG00000117713;
snps: rs571264557 rs139230162
name:
AT-rich interactive domain-containing protein 1A (ARID domain-containing protein 1A) (B120) (BRG1-associated factor 250) (BAF250) (BRG1-associated factor 250a) (BAF250A) (Osa homolog 1) (hOSA1) (SWI-like protein) (SWI/SNF complex protein p270) (SWI/SNF-related, matrix-associated, actin-dependent regulator of chromatin subfamily F member 1) (hELD)

sequence:

opentargets:
nBAF complex [GO:0071565]; npBAF complex [GO:0071564]; nuclear chromatin [GO:0000790]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; SWI/SNF complex [GO:0016514]; DNA binding [GO:0003677]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; nuclear receptor binding [GO:0016922]; nucleosome binding [GO:0031491]; transcription coactivator activity [GO:0003713]; androgen receptor signaling pathway [GO:0030521]; ATP-dependent chromatin remodeling [GO:0043044]; cardiac chamber development [GO:0003205]; cardiac muscle cell differentiation [GO:0055007]; chromatin remodeling [GO:0006338]; chromatin-mediated maintenance of transcription [GO:0048096]; embryo implantation [GO:0007566]; forebrain development [GO:0030900]; formation of primary germ layer [GO:0001704]; glucocorticoid receptor signaling pathway [GO:0042921]; intracellular estrogen receptor signaling pathway [GO:0030520]; maintenance of chromatin silencing [GO:0006344]; negative regulation of transcription by RNA polymerase II [GO:0000122]; neural tube closure [GO:0001843]; nucleosome disassembly [GO:0006337]; nucleosome mobilization [GO:0042766]; optic cup formation involved in camera-type eye development [GO:0003408]; placenta blood vessel development [GO:0060674]; positive regulation of transcription, DNA-templated [GO:0045893]; regulation of transcription by RNA polymerase II [GO:0006357]; stem cell population maintenance [GO:0019827]; toxin transport [GO:1901998]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=O14497-1; Sequence=Displayed; Name=2; IsoId=O14497-2; Sequence=VSP_015225; Name=3; IsoId=O14497-3; Sequence=VSP_037157; 

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000255|PROSITE-ProRule:PRU00355, ECO:0000269|PubMed:11318604, ECO:0000269|PubMed:26614907}.


uniprotID: Q8NFD5
geneSymbol: ARID1B
reactome: R-HSA-3214858;R-HSA-8939243;
pdb: 2CXY;2EH9;
length: 2236
go: ENSG00000049618;
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000255|PROSITE-ProRule:PRU00355, ECO:0000269|PubMed:11988099}.
name:
AT-rich interactive domain-containing protein 1B (ARID domain-containing protein 1B) (BRG1-associated factor 250b) (BAF250B) (BRG1-binding protein hELD/OSA1) (Osa homolog 2) (hOsa2) (p250R)

sequence:

opentargets:
cytosol [GO:0005829]; nBAF complex [GO:0071565]; nucleoplasm [GO:0005654]; plasma membrane [GO:0005886]; SWI/SNF complex [GO:0016514]; DNA binding [GO:0003677]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; transcription coactivator activity [GO:0003713]; chromatin-mediated maintenance of transcription [GO:0048096]; nervous system development [GO:0007399]

snps:
rs375160616 rs748273011 rs760718156 rs199948752 rs769085274 rs764716697 rs141260832 rs138254872 rs139620600 rs775526039 rs768013849 rs149389876 rs199674889 rs142808724 rs1051017338 rs777745107 rs140177120 rs574141489 rs200305796 rs758204258 rs756220726 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=Q8NFD5-1; Sequence=Displayed; Name=2; IsoId=Q8NFD5-2; Sequence=VSP_015226; Name=3; IsoId=Q8NFD5-3; Sequence=VSP_015227; Name=4; IsoId=Q8NFD5-4; Sequence=VSP_040800; 


uniprotID: Q96DR7
geneSymbol: ARHGEF26
reactome: R-HSA-193648;R-HSA-194840;R-HSA-416482;
name: Rho guanine nucleotide exchange factor 26 (SH3 domain-containing guanine exchange factor)
length: 871
go: ENSG00000114790;
snps: rs12493885 rs12497267 rs13096373
sequence:

opentargets:
cytosol [GO:0005829]; ruffle [GO:0001726]; guanyl-nucleotide exchange factor activity [GO:0005085]; Rho guanyl-nucleotide exchange factor activity [GO:0005089]; endothelial cell morphogenesis [GO:0001886]; G protein-coupled receptor signaling pathway [GO:0007186]; positive regulation of apoptotic process [GO:0043065]; regulation of Rho protein signal transduction [GO:0035023]; regulation of small GTPase mediated signal transduction [GO:0051056]; ruffle assembly [GO:0097178]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q96DR7-1; Sequence=Displayed; Name=2; IsoId=Q96DR7-3; Sequence=VSP_031934, VSP_031935; Name=3; IsoId=Q96DR7-4; Sequence=VSP_045570; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cell projection, ruffle {ECO:0000269|PubMed:15133129, ECO:0000269|PubMed:17875742}.


uniprotID: Q9Y4X5
geneSymbol: ARIH1
reactome: R-HSA-1169408;
pdb: 1WD2;2M9Y;4KBL;4KC9;5TTE;5UDH;
length: 557
go: ENSG00000166233;
name:
E3 ubiquitin-protein ligase ARIH1 (EC 2.3.2.31) (H7-AP2) (HHARI) (Monocyte protein 6) (MOP-6) (Protein ariadne-1 homolog) (ARI-1) (UbcH7-binding protein) (UbcM4-interacting protein) (Ubiquitin-conjugating enzyme E2-binding protein 1)

sequence:

opentargets:
Cajal body [GO:0015030]; cytoplasm [GO:0005737]; cytosol [GO:0005829]; Lewy body [GO:0097413]; nuclear body [GO:0016604]; ubiquitin ligase complex [GO:0000151]; ubiquitin conjugating enzyme binding [GO:0031624]; ubiquitin protein ligase activity [GO:0061630]; ubiquitin protein ligase binding [GO:0031625]; ubiquitin-like protein transferase activity [GO:0019787]; ubiquitin-protein transferase activity [GO:0004842]; zinc ion binding [GO:0008270]; positive regulation of proteasomal ubiquitin-dependent protein catabolic process [GO:0032436]; protein polyubiquitination [GO:0000209]; protein ubiquitination [GO:0016567]; ubiquitin-dependent protein catabolic process [GO:0006511]

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:11278816, ECO:0000269|PubMed:21590270, ECO:0000269|PubMed:23059369}. Nucleus {ECO:0000269|PubMed:23059369}. Nucleus, Cajal body {ECO:0000269|PubMed:23059369}. Note=Mainly cytoplasmic (PubMed:11278816). Present in Lewy body (PubMed:21590270). {ECO:0000269|PubMed:11278816, ECO:0000269|PubMed:21590270}.


uniprotID: Q14865
geneSymbol: ARID5B
reactome: R-HSA-3214842;
pdb: 1IG6;2OEH;
length: 1188
go: ENSG00000150347;
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000255|PROSITE-ProRule:PRU00355}.
name:
AT-rich interactive domain-containing protein 5B (ARID domain-containing protein 5B) (MRF1-like protein) (Modulator recognition factor 2) (MRF-2)

sequence:

opentargets:
nucleoplasm [GO:0005654]; nucleus [GO:0005634]; DNA binding [GO:0003677]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; DNA-binding transcription repressor activity, RNA polymerase II-specific [GO:0001227]; histone demethylase activity [GO:0032452]; RNA polymerase II regulatory region sequence-specific DNA binding [GO:0000977]; transcription coactivator activity [GO:0003713]; transcription regulatory region DNA binding [GO:0044212]; adipose tissue development [GO:0060612]; adrenal gland development [GO:0030325]; cell development [GO:0048468]; cellular response to leukemia inhibitory factor [GO:1990830]; face morphogenesis [GO:0060325]; fat cell differentiation [GO:0045444]; fat pad development [GO:0060613]; female gonad development [GO:0008585]; fibroblast migration [GO:0010761]; kidney development [GO:0001822]; liver development [GO:0001889]; male gonad development [GO:0008584]; multicellular organism growth [GO:0035264]; muscle organ morphogenesis [GO:0048644]; negative regulation of transcription by RNA polymerase II [GO:0000122]; negative regulation of transcription, DNA-templated [GO:0045892]; platelet-derived growth factor receptor signaling pathway [GO:0048008]; positive regulation of DNA-binding transcription factor activity [GO:0051091]; post-embryonic development [GO:0009791]; regulation of transcription by RNA polymerase II [GO:0006357]; roof of mouth development [GO:0060021]; skeletal system morphogenesis [GO:0048705]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q14865-1; Sequence=Displayed; Name=2; IsoId=Q14865-2; Sequence=VSP_009355, VSP_009356; Name=3; IsoId=Q14865-3; Sequence=VSP_041560, VSP_041561; Note=No experimental confirmation available.; 


uniprotID: Q8IVW6
geneSymbol: ARID3B
length: 561
go: ENSG00000179361;
name:
AT-rich interactive domain-containing protein 3B (ARID domain-containing protein 3B) (Bright and dead ringer protein) (Bright-like protein)

sequence:

opentargets:
nucleoplasm [GO:0005654]; nucleus [GO:0005634]; distal enhancer DNA-binding transcription activator activity, RNA polymerase II-specific [GO:0001205]; 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]; proximal promoter DNA-binding transcription activator activity, RNA polymerase II-specific [GO:0001077]; RNA polymerase II distal enhancer sequence-specific DNA binding [GO:0000980]; RNA polymerase II proximal promoter sequence-specific DNA binding [GO:0000978]; RNA polymerase II regulatory region sequence-specific DNA binding [GO:0000977]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q8IVW6-1; Sequence=Displayed; Name=3; IsoId=Q8IVW6-3; Sequence=VSP_026773, VSP_026774; Note=No experimental confirmation available.; Name=4; IsoId=Q8IVW6-4; Sequence=VSP_039860; 

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000255|PROSITE-ProRule:PRU00355, ECO:0000269|PubMed:10446990, ECO:0000269|PubMed:17400556}.


uniprotID: P29374
geneSymbol: ARID4A
reactome: R-HSA-3214815;
pdb: 2LCC;2MAM;2YRV;6BPH;
length: 1257
go: ENSG00000032219;
snps: rs34982206 rs2230098 rs1051858
name:
AT-rich interactive domain-containing protein 4A (ARID domain-containing protein 4A) (Retinoblastoma-binding protein 1) (RBBP-1)

sequence:

opentargets:
cytosol [GO:0005829]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; plasma membrane [GO:0005886]; transcriptional repressor complex [GO:0017053]; DNA binding [GO:0003677]; DNA-binding transcription factor activity [GO:0003700]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; histone deacetylase activity [GO:0004407]; transcription regulatory region DNA binding [GO:0044212]; erythrocyte development [GO:0048821]; establishment of Sertoli cell barrier [GO:0097368]; histone H3-K4 trimethylation [GO:0080182]; histone H3-K9 trimethylation [GO:0036124]; histone H4-K20 trimethylation [GO:0034773]; negative regulation of transcription, DNA-templated [GO:0045892]; positive regulation of transcription by RNA polymerase II [GO:0045944]; regulation of gene expression by genetic imprinting [GO:0006349]; regulation of transcription by RNA polymerase II [GO:0006357]; spermatogenesis [GO:0007283]; transcription by RNA polymerase II [GO:0006366]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=I; IsoId=P29374-1; Sequence=Displayed; Name=II; IsoId=P29374-2; Sequence=VSP_004373; Name=III; IsoId=P29374-3; Sequence=VSP_004371, VSP_004372; 

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000255|PROSITE-ProRule:PRU00355, ECO:0000269|PubMed:8414517, ECO:0000269|PubMed:8455946}.


uniprotID: Q03989
geneSymbol: ARID5A
length: 594
go: ENSG00000196843;
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000255|PROSITE-ProRule:PRU00355, ECO:0000269|PubMed:8649988}.
name:
AT-rich interactive domain-containing protein 5A (ARID domain-containing protein 5A) (Modulator recognition factor 1) (MRF-1)

sequence:

opentargets:
nucleolus [GO:0005730]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; androgen receptor binding [GO:0050681]; DNA binding [GO:0003677]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; DNA-binding transcription repressor activity, RNA polymerase II-specific [GO:0001227]; estrogen receptor binding [GO:0030331]; retinoid X receptor binding [GO:0046965]; RNA binding [GO:0003723]; sequence-specific DNA binding [GO:0043565]; thyroid hormone receptor binding [GO:0046966]; transcription corepressor activity [GO:0003714]; transcription factor binding [GO:0008134]; transcription regulatory region DNA binding [GO:0044212]; cellular response to estrogen stimulus [GO:0071391]; innate immune response [GO:0045087]; negative regulation of transcription by RNA polymerase II [GO:0000122]; negative regulation of transcription, DNA-templated [GO:0045892]; regulation of transcription by RNA polymerase II [GO:0006357]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q03989-1; Sequence=Displayed; Name=2; IsoId=Q03989-5; Sequence=VSP_058969; 


uniprotID: Q8NHP1
geneSymbol: AKR7L
reactome: R-HSA-5423646;
length: 331
snps: rs2235795 rs2982534
name:
Aflatoxin B1 aldehyde reductase member 4 (EC 1.-.-.-) (AFB1 aldehyde reductase 3) (AFB1-AR 3) (Aldoketoreductase 7-like)

sequence:

opentargets:
cytosol [GO:0005829]; extracellular exosome [GO:0070062]; aldo-keto reductase (NADP) activity [GO:0004033]; xenobiotic metabolic process [GO:0006805]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q8NHP1-1; Sequence=Displayed; Name=2; IsoId=Q8NHP1-3; Sequence=VSP_059796; 


uniprotID: P40616
geneSymbol: ARL1
reactome: R-HSA-6811440;
pdb: 1UPT;4DCN;5EE5;5J5C;
name: ADP-ribosylation factor-like protein 1
length: 181
go: ENSG00000120805;
drug: DB04315;
sequence:
MGGFFSSIFSSLFGTREMRILILGLDGAGKTTILYRLQVGEVVTTIPTIGFNVETVTYKNLKFQVWDLGGQTSIRPYWRCYYSNTDAVIYVVDSCDRDRIGISKSELVAMLEEEELRKAILVVFANKQDMEQAMTSSEMANSLGLPALKDRKWQIFKTSATKGTGLDEAMEWLVETLKSRQ

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; Golgi apparatus [GO:0005794]; trans-Golgi network [GO:0005802]; trans-Golgi network membrane [GO:0032588]; enzyme activator activity [GO:0008047]; GTP binding [GO:0005525]; GTPase activity [GO:0003924]; metal ion binding [GO:0046872]; protein domain specific binding [GO:0019904]; activation of phospholipase D activity [GO:0031584]; Golgi organization [GO:0007030]; Golgi vesicle transport [GO:0048193]; intracellular protein transport [GO:0006886]; protein localization to Golgi apparatus [GO:0034067]; retrograde transport, endosome to Golgi [GO:0042147]; toxin metabolic process [GO:0009404]; vesicle-mediated transport [GO:0016192]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P40616-1; Sequence=Displayed; Name=2; IsoId=P40616-2; Sequence=VSP_056566; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Golgi apparatus membrane {ECO:0000269|PubMed:11303027}; Peripheral membrane protein {ECO:0000269|PubMed:11303027}; Cytoplasmic side {ECO:0000269|PubMed:11303027}. Membrane {ECO:0000305}; Lipid-anchor {ECO:0000305}.


uniprotID: P36404
geneSymbol: ARL2
reactome: R-HSA-389977;R-HSA-422356;
pdb: 3DOE;3DOF;
name: ADP-ribosylation factor-like protein 2
length: 184
go: ENSG00000213465;
snps: rs664226
sequence:
MGLLTILKKMKQKERELRLLMLGLDNAGKTTILKKFNGEDIDTISPTLGFNIKTLEHRGFKLNIWDVGGQKSLRSYWRNYFESTDGLIWVVDSADRQRMQDCQRELQSLLVEERLAGATLLIFANKQDLPGALSSNAIREVLELDSIRSHHWCIQGCSAVTGENLLPGIDWLLDDISSRIFTAD

opentargets:
centrosome [GO:0005813]; cytosol [GO:0005829]; focal adhesion [GO:0005925]; Golgi apparatus [GO:0005794]; lateral plasma membrane [GO:0016328]; mitochondrial intermembrane space [GO:0005758]; mitochondrial matrix [GO:0005759]; nucleolus [GO:0005730]; nucleus [GO:0005634]; GTP binding [GO:0005525]; GTPase activity [GO:0003924]; GTPase inhibitor activity [GO:0005095]; bicellular tight junction assembly [GO:0070830]; centrosome cycle [GO:0007098]; maintenance of protein location in nucleus [GO:0051457]; negative regulation of GTPase activity [GO:0034260]; positive regulation of cell-substrate adhesion [GO:0010811]; positive regulation of microtubule polymerization [GO:0031116]; regulation of insulin secretion [GO:0050796]; regulation of microtubule polymerization [GO:0031113]; tubulin complex assembly [GO:0007021]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P36404-1; Sequence=Displayed; Name=2; IsoId=P36404-2; Sequence=VSP_047278; 

location:
SUBCELLULAR LOCATION: Mitochondrion intermembrane space. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome. Nucleus. Cytoplasm. Note=The complex formed with ARL2BP, ARL2 and SLC25A6 is expressed in mitochondria. The complex formed with ARL2BP, ARL2 and SLC25A4 is expressed in mitochondria (By similarity). Not detected in the Golgi, nucleus and on the mitotic spindle. Centrosome-associated throughout the cell cycle. Not detected to interphase microtubules. {ECO:0000250}.


uniprotID: P36405
geneSymbol: ARL3
reactome: R-HSA-5624138;
name: ADP-ribosylation factor-like protein 3
length: 182
go: ENSG00000138175;
drug: DB03814;DB04315;
snps: rs1141895
sequence:
MGLLSILRKLKSAPDQEVRILLLGLDNAGKTTLLKQLASEDISHITPTQGFNIKSVQSQGFKLNVWDIGGQRKIRPYWKNYFENTDILIYVIDSADRKRFEETGQELAELLEEEKLSCVPVLIFANKQDLLTAAPASEIAEGLNLHTIRDRVWQIQSCSALTGEGVQDGMNWVCKNVNAKKK

opentargets:
centrosome [GO:0005813]; cilium [GO:0005929]; cytoplasmic microtubule [GO:0005881]; extracellular exosome [GO:0070062]; Golgi apparatus [GO:0005794]; Golgi membrane [GO:0000139]; microtubule cytoskeleton [GO:0015630]; midbody [GO:0030496]; nucleus [GO:0005634]; photoreceptor connecting cilium [GO:0032391]; spindle microtubule [GO:0005876]; GDP binding [GO:0019003]; GTP binding [GO:0005525]; GTPase activity [GO:0003924]; metal ion binding [GO:0046872]; microtubule binding [GO:0008017]; cilium assembly [GO:0060271]; intraciliary transport [GO:0042073]; kidney development [GO:0001822]; mitotic cytokinesis [GO:0000281]; photoreceptor cell development [GO:0042461]; post-Golgi vesicle-mediated transport [GO:0006892]; protein transport [GO:0015031]; small GTPase mediated signal transduction [GO:0007264]; smoothened signaling pathway [GO:0007224]

location:
SUBCELLULAR LOCATION: Golgi apparatus membrane; Peripheral membrane protein; Cytoplasmic side. Cytoplasm, cytoskeleton, spindle. Nucleus. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome. Cytoplasm. Cell projection, cilium. Note=Detected predominantly in the photoreceptor connecting cilium. Present on the mitotic spindle. Centrosome-associated throughout the cell cycle. Not detected to interphase microtubules.


uniprotID: Q96BM9
geneSymbol: ARL8A
reactome: R-HSA-6798695;
pdb: 1ZD9;2H18;4ILE;
length: 186
go: ENSG00000143862;
location: SUBCELLULAR LOCATION: Late endosome membrane. Lysosome membrane.
name:
ADP-ribosylation factor-like protein 8A (ADP-ribosylation factor-like protein 10B) (Novel small G protein indispensable for equal chromosome segregation 2)

sequence:
MIALFNKLLDWFKALFWKEEMELTLVGLQYSGKTTFVNVIASGQFNEDMIPTVGFNMRKITKGNVTIKLWDIGGQPRFRSMWERYCRGVSAIVYMVDAADQEKIEASKNELHNLLDKPQLQGIPVLVLGNKRDLPGALDEKELIEKMNLSAIQDREICCYSISCKEKDNIDITLQWLIQHSKSRRS

opentargets:
azurophil granule membrane [GO:0035577]; cytoplasm [GO:0005737]; extracellular exosome [GO:0070062]; ficolin-1-rich granule membrane [GO:0101003]; late endosome membrane [GO:0031902]; lysosomal membrane [GO:0005765]; membrane [GO:0016020]; midbody [GO:0030496]; plasma membrane [GO:0005886]; spindle midzone [GO:0051233]; vacuolar membrane [GO:0005774]; alpha-tubulin binding [GO:0043014]; beta-tubulin binding [GO:0048487]; GTP binding [GO:0005525]; GTPase activity [GO:0003924]; cell cycle [GO:0007049]; cell division [GO:0051301]; chromosome segregation [GO:0007059]; neutrophil degranulation [GO:0043312]


uniprotID: P40617
geneSymbol: ARL4A
name: ADP-ribosylation factor-like protein 4A
length: 200
go: ENSG00000122644;
sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; nucleolus [GO:0005730]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; plasma membrane [GO:0005886]; GTP binding [GO:0005525]; intracellular protein transport [GO:0006886]; vesicle-mediated transport [GO:0016192]

location:
SUBCELLULAR LOCATION: Cell membrane. Cytoplasm. Nucleus, nucleolus. Note=Localization in the nucleolus is dependent by nucleotide binding.


uniprotID: Q96KC2
geneSymbol: ARL5B
pdb: 1YZG;
name: ADP-ribosylation factor-like protein 5B (ADP-ribosylation factor-like protein 8)
length: 179
go: ENSG00000165997;
drug: DB04315;
sequence:
MGLIFAKLWSLFCNQEHKVIIVGLDNAGKTTILYQFLMNEVVHTSPTIGSNVEEIVVKNTHFLMWDIGGQESLRSSWNTYYSNTEFIILVVDSIDRERLAITKEELYRMLAHEDLRKAAVLIFANKQDMKGCMTAAEISKYLTLSSIKDHPWHIQSCCALTGEGLCQGLEWMTSRIGVR

opentargets:
cytoplasm [GO:0005737]; trans-Golgi network [GO:0005802]; GTP binding [GO:0005525]; intracellular protein transport [GO:0006886]; protein localization to Golgi membrane [GO:1903292]; vesicle-mediated transport [GO:0016192]


uniprotID: P04424
geneSymbol: ASL
reactome: R-HSA-70635;
pdb: 1AOS;1K62;
name: Argininosuccinate lyase (ASAL) (EC 4.3.2.1) (Arginosuccinase)
length: 464
go: ENSG00000126522;
drug: DB03814;DB02267;DB00125;
sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; extracellular exosome [GO:0070062]; argininosuccinate lyase activity [GO:0004056]; identical protein binding [GO:0042802]; ammonia assimilation cycle [GO:0019676]; arginine biosynthetic process via ornithine [GO:0042450]; locomotory behavior [GO:0007626]; post-embryonic development [GO:0009791]; urea cycle [GO:0000050]

snps:
rs754995756 rs1027739421 rs374304304 rs777437569 rs28940585 rs150244667 rs138310841 rs752783461 rs201962738 rs199938613 rs769017508 rs727503811 rs28941473 rs1057141162 rs751590073 rs752397242 rs143508372 rs373697663 rs1428029508 rs796051925 rs761268464 rs552951774 rs149057077 rs28941472 rs750431938 rs868834862 rs28940287 rs28940286 rs746120802 rs796051928 rs773071023 rs373519615 rs767271619 rs759396688 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=P04424-1; Sequence=Displayed; Name=2; IsoId=P04424-2; Sequence=VSP_047256; Note=Gene prediction based on EST data.; Name=3; IsoId=P04424-3; Sequence=VSP_047255; Note=Gene prediction based on EST data.; 


uniprotID: Q8N6M5
geneSymbol: ALLC
name: Probable allantoicase (EC 3.5.3.4) (Allantoate amidinohydrolase)
length: 391
go: ENSG00000151360;
opentargets: allantoicase activity [GO:0004037]; allantoin catabolic process [GO:0000256]
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q8N6M5-1; Sequence=Displayed; Name=2; IsoId=Q8N6M5-2; Sequence=VSP_015618; 


uniprotID: Q8IY63
geneSymbol: AMOTL1
reactome: R-HSA-2028269;
name: Angiomotin-like protein 1
length: 956
go: ENSG00000166025;
snps: rs11020968
location: SUBCELLULAR LOCATION: Cell junction, tight junction {ECO:0000250}.
sequence:

opentargets:
apical plasma membrane [GO:0016324]; bicellular tight junction [GO:0005923]; cytoplasmic vesicle [GO:0031410]; cytosol [GO:0005829]; lamellipodium [GO:0030027]; identical protein binding [GO:0042802]; actin cytoskeleton organization [GO:0030036]; establishment of cell polarity involved in ameboidal cell migration [GO:0003365]; hippo signaling [GO:0035329]; positive regulation of blood vessel endothelial cell migration [GO:0043536]; regulation of cell migration [GO:0030334]; Wnt signaling pathway [GO:0016055]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q8IY63-1; Sequence=Displayed; Name=2; IsoId=Q8IY63-2; Sequence=VSP_015710; Note=No experimental confirmation available.; 


uniprotID: Q9Y672
geneSymbol: ALG6
reactome: R-HSA-446193;R-HSA-4724289;
length: 507
go: ENSG00000088035;
snps: rs35383149 rs35604168 rs372079206 rs4630153 rs121908443 rs121908444
name:
Dolichyl pyrophosphate Man9GlcNAc2 alpha-1,3-glucosyltransferase (EC 2.4.1.267) (Asparagine-linked glycosylation protein 6 homolog) (Dol-P-Glc:Man(9)GlcNAc(2)-PP-Dol alpha-1,3-glucosyltransferase) (Dolichyl-P-Glc:Man9GlcNAc2-PP-dolichyl glucosyltransferase)

sequence:

opentargets:
endoplasmic reticulum membrane [GO:0005789]; integral component of membrane [GO:0016021]; membrane [GO:0016020]; dolichyl pyrophosphate Man9GlcNAc2 alpha-1,3-glucosyltransferase activity [GO:0042281]; dolichyl-phosphate-glucose-glycolipid alpha-glucosyltransferase activity [GO:0004583]; glucosyltransferase activity [GO:0046527]; dolichol-linked oligosaccharide biosynthetic process [GO:0006488]; oligosaccharide-lipid intermediate biosynthetic process [GO:0006490]; protein N-linked glycosylation [GO:0006487]


uniprotID: Q86YJ7
geneSymbol: ANKRD13B
name: Ankyrin repeat domain-containing protein 13B
length: 626
go: ENSG00000198720;
sequence:

opentargets:
early endosome [GO:0005769]; intracellular membrane-bounded organelle [GO:0043231]; late endosome [GO:0005770]; plasma membrane [GO:0005886]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q86YJ7-1; Sequence=Displayed; Name=2; IsoId=Q86YJ7-2; Sequence=VSP_019404; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:22298428}. Late endosome {ECO:0000269|PubMed:22298428}. Early endosome {ECO:0000269|PubMed:22298428}. Note=Interaction with EGFR may enhance association with the cell membrane.


uniprotID: Q8NFD2
geneSymbol: ANKK1
length: 765
go: ENSG00000170209;
opentargets: ATP binding [GO:0005524]; protein serine/threonine kinase activity [GO:0004674]
name:
Ankyrin repeat and protein kinase domain-containing protein 1 (EC 2.7.11.1) (Protein kinase PKK2) (Sugen kinase 288) (SgK288) (X-kinase)

sequence:

snps:
rs35657708 rs35877321 rs7118900 rs35488601 rs11604671 rs56339158 rs34298987 rs56299709 rs55699907 rs4938016 rs34983219 rs2734849 rs55787008 rs7104979 rs55849504 rs56006094 rs1800497 


uniprotID: Q9BXX2
geneSymbol: ANKRD30B
length: 1392
go: ENSG00000180777;
snps: rs9748611 rs9675365
name:
Ankyrin repeat domain-containing protein 30B (Serologically defined breast cancer antigen NY-BR-1.1)

sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9BXX2-1; Sequence=Displayed; Name=2; IsoId=Q9BXX2-2; Sequence=VSP_032812, VSP_032813; Note=No experimental confirmation available. May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.; 


uniprotID: F7VJQ1
geneSymbol: PRNP
name: Alternative prion protein (AltPrP)
sequence: MEHWGQPIPGAGQPWRQPLPTSGRWWLGAASWWWLGAASWWWLGAAPWWWLGTASWWWLGSRRWHPQSVEQAE
length: 73
opentargets: integral component of membrane [GO:0016021]; mitochondrial outer membrane [GO:0005741]
isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative initiation; Named isoforms=3;  Name=3; Synonyms=AltPrP; IsoId=F7VJQ1-1; Sequence=Displayed; Name=1; Synonyms=PrP; IsoId=P04156-1; Sequence=External; Name=2; Synonyms=PrP(M8); IsoId=P04156-2; Sequence=External; 

location:
SUBCELLULAR LOCATION: Mitochondrion outer membrane {ECO:0000269|PubMed:21478263}; Single-pass membrane protein {ECO:0000269|PubMed:21478263}.


uniprotID: O14791
geneSymbol: APOL1
reactome: R-HSA-2168880;R-HSA-381426;R-HSA-8957275;
name: Apolipoprotein L1 (Apolipoprotein L) (Apo-L) (ApoL) (Apolipoprotein L-I) (ApoL-I)
length: 398
go: ENSG00000100342;
snps: rs2239785 rs136175 rs136176 rs16996616 rs73885319 rs60910145
location: SUBCELLULAR LOCATION: Secreted.
sequence:

opentargets:
blood microparticle [GO:0072562]; endoplasmic reticulum lumen [GO:0005788]; extracellular region [GO:0005576]; extracellular space [GO:0005615]; high-density lipoprotein particle [GO:0034364]; intrinsic component of membrane [GO:0031224]; very-low-density lipoprotein particle [GO:0034361]; chloride channel activity [GO:0005254]; lipid binding [GO:0008289]; cellular protein metabolic process [GO:0044267]; chloride transmembrane transport [GO:1902476]; cholesterol metabolic process [GO:0008203]; cytolysis [GO:0019835]; innate immune response [GO:0045087]; killing of cells of other organism [GO:0031640]; lipid transport [GO:0006869]; lipoprotein metabolic process [GO:0042157]; post-translational protein modification [GO:0043687]; receptor-mediated endocytosis [GO:0006898]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; Synonyms=A; IsoId=O14791-1; Sequence=Displayed; Note=Major isoform.; Name=2; Synonyms=B; IsoId=O14791-2; Sequence=VSP_000292; Name=3; IsoId=O14791-3; Sequence=VSP_045077; Note=No experimental confirmation available.; 


uniprotID: Q9BX69
geneSymbol: CARD6
name: Caspase recruitment domain-containing protein 6
length: 1037
go: ENSG00000132357;
opentargets: apoptotic process [GO:0006915]; regulation of apoptotic process [GO:0042981]
snps: rs10512747 rs7715491 rs3812030 rs3812031 rs36085996 rs323562
sequence:


uniprotID: Q9H257
geneSymbol: CARD9
reactome: R-HSA-168638;R-HSA-5607764;
pdb: 6E25;6E26;6E27;6E28;
name: Caspase recruitment domain-containing protein 9 (hCARD9)
length: 536
go: ENSG00000187796;
snps: rs4077515 rs398122362 rs398122364 rs149712114
location: SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:11053425}.
sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; plasma membrane [GO:0005886]; CARD domain binding [GO:0050700]; protein homodimerization activity [GO:0042803]; defense response to Gram-positive bacterium [GO:0050830]; defense response to virus [GO:0051607]; I-kappaB kinase/NF-kappaB signaling [GO:0007249]; innate immune response [GO:0045087]; positive regulation of I-kappaB kinase/NF-kappaB signaling [GO:0043123]; positive regulation of interleukin-6 production [GO:0032755]; positive regulation of JNK cascade [GO:0046330]; positive regulation of stress-activated MAPK cascade [GO:0032874]; positive regulation of tumor necrosis factor production [GO:0032760]; regulation of apoptotic process [GO:0042981]; regulation of interleukin-2 biosynthetic process [GO:0045076]; regulation of interleukin-6 biosynthetic process [GO:0045408]; regulation of tumor necrosis factor biosynthetic process [GO:0042534]; response to exogenous dsRNA [GO:0043330]; response to fungus [GO:0009620]; response to muramyl dipeptide [GO:0032495]; response to peptidoglycan [GO:0032494]; stimulatory C-type lectin receptor signaling pathway [GO:0002223]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q9H257-1; Sequence=Displayed; Name=2; IsoId=Q9H257-2; Sequence=VSP_024392, VSP_024393; Note=No experimental confirmation available.; Name=3; IsoId=Q9H257-3; Sequence=VSP_024390, VSP_024391; Note=No experimental confirmation available. May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.; 


uniprotID: Q9NXV6
geneSymbol: CDKN2AIP
name: CDKN2A-interacting protein (Collaborator of ARF)
length: 580
go: ENSG00000168564;
sequence:

opentargets:
granular component [GO:0001652]; nucleolus [GO:0005730]; nucleoplasm [GO:0005654]; p53 binding [GO:0002039]; RNA binding [GO:0003723]; cellular response to DNA damage stimulus [GO:0006974]; negative regulation of cell growth [GO:0030308]; positive regulation of cell growth [GO:0030307]; positive regulation of signal transduction [GO:0009967]; regulation of protein stability [GO:0031647]

location:
SUBCELLULAR LOCATION: Nucleus, nucleoplasm {ECO:0000269|PubMed:12154087, ECO:0000269|PubMed:12581788}.


uniprotID: Q5VZK9
geneSymbol: CARMIL1
reactome: R-HSA-983231;
pdb: 3LK2;3LK3;
length: 1371
go: ENSG00000079691;
snps: rs9358856 rs12207840 rs7454756 rs9885914
name:
F-actin-uncapping protein LRRC16A (CARMIL homolog) (Capping protein regulator and myosin 1 linker protein 1) (Capping protein, Arp2/3 and myosin-I linker homolog 1) (Capping protein, Arp2/3 and myosin-I linker protein 1) (Leucine-rich repeat-containing protein 16A)

sequence:

opentargets:
cell leading edge [GO:0031252]; cytosol [GO:0005829]; extracellular exosome [GO:0070062]; filamentous actin [GO:0031941]; lamellipodium [GO:0030027]; macropinosome [GO:0044354]; nuclear speck [GO:0016607]; nucleus [GO:0005634]; plasma membrane [GO:0005886]; protein-containing complex binding [GO:0044877]; actin filament network formation [GO:0051639]; actin filament organization [GO:0007015]; barbed-end actin filament uncapping [GO:0051638]; blood coagulation [GO:0007596]; cell migration [GO:0016477]; lamellipodium assembly [GO:0030032]; macropinocytosis [GO:0044351]; negative regulation of barbed-end actin filament capping [GO:2000813]; positive regulation of actin filament polymerization [GO:0030838]; positive regulation of cell migration [GO:0030335]; positive regulation of lamellipodium organization [GO:1902745]; positive regulation of stress fiber assembly [GO:0051496]; positive regulation of substrate adhesion-dependent cell spreading [GO:1900026]; ruffle organization [GO:0031529]; urate metabolic process [GO:0046415]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; Synonyms=CARMIL1a {ECO:0000303|PubMed:19846667}; IsoId=Q5VZK9-1; Sequence=Displayed; Name=2; IsoId=Q5VZK9-2; Sequence=VSP_032420; Note=No experimental confirmation available.; Name=3; IsoId=Q5VZK9-3; Sequence=VSP_032418, VSP_032419; Note=No experimental confirmation available.; Name=4; IsoId=Q5VZK9-4; Sequence=VSP_032415, VSP_032416, VSP_032417; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:19846667}. Cytoplasm, cytoskeleton {ECO:0000250|UniProtKB:Q6EDY6}. Cell membrane {ECO:0000269|PubMed:26578515}. Cell projection, lamellipodium {ECO:0000269|PubMed:19846667}. Note=Found on macropinosomes (PubMed:19846667). Colocalized with heterodimeric capping protein (CP) and F-actin in lamellipodia but not with F-actin in stress fibers (PubMed:19846667). {ECO:0000269|PubMed:19846667}.


uniprotID: P29972
geneSymbol: AQP1
reactome: R-HSA-1237044;R-HSA-1247673;R-HSA-432040;R-HSA-432047;
pdb: 1FQY;1H6I;1IH5;4CSK;
length: 269
go: ENSG00000240583;
drug: DB00819;
snps: rs104894004 rs28362692 rs28362731
name:
Aquaporin-1 (AQP-1) (Aquaporin-CHIP) (Urine water channel) (Water channel protein for red blood cells and kidney proximal tubule)

sequence:

opentargets:
apical part of cell [GO:0045177]; apical plasma membrane [GO:0016324]; basal plasma membrane [GO:0009925]; basolateral plasma membrane [GO:0016323]; brush border [GO:0005903]; brush border membrane [GO:0031526]; cytoplasm [GO:0005737]; extracellular exosome [GO:0070062]; integral component of plasma membrane [GO:0005887]; nuclear membrane [GO:0031965]; nucleus [GO:0005634]; plasma membrane [GO:0005886]; sarcolemma [GO:0042383]; symbiont-containing vacuole [GO:0020003]; ammonium transmembrane transporter activity [GO:0008519]; carbon dioxide transmembrane transporter activity [GO:0035379]; glycerol transmembrane transporter activity [GO:0015168]; identical protein binding [GO:0042802]; intracellular cGMP-activated cation channel activity [GO:0005223]; nitric oxide transmembrane transporter activity [GO:0030184]; potassium channel activity [GO:0005267]; potassium ion transmembrane transporter activity [GO:0015079]; transmembrane transporter activity [GO:0022857]; water channel activity [GO:0015250]; water transmembrane transporter activity [GO:0005372]; ammonium transport [GO:0015696]; bicarbonate transport [GO:0015701]; carbon dioxide transmembrane transport [GO:0035378]; carbon dioxide transport [GO:0015670]; cell volume homeostasis [GO:0006884]; cellular homeostasis [GO:0019725]; cellular hyperosmotic response [GO:0071474]; cellular response to cAMP [GO:0071320]; cellular response to copper ion [GO:0071280]; cellular response to dexamethasone stimulus [GO:0071549]; cellular response to hydrogen peroxide [GO:0070301]; cellular response to hypoxia [GO:0071456]; cellular response to inorganic substance [GO:0071241]; cellular response to mechanical stimulus [GO:0071260]; cellular response to mercury ion [GO:0071288]; cellular response to nitric oxide [GO:0071732]; cellular response to retinoic acid [GO:0071300]; cellular response to salt stress [GO:0071472]; cellular response to UV [GO:0034644]; cerebrospinal fluid secretion [GO:0033326]; cGMP-mediated signaling [GO:0019934]; establishment or maintenance of actin cytoskeleton polarity [GO:0030950]; glycerol transport [GO:0015793]; lateral ventricle development [GO:0021670]; maintenance of symbiont-containing vacuole by host [GO:0085018]; multicellular organismal water homeostasis [GO:0050891]; negative regulation of apoptotic process [GO:0043066]; negative regulation of cysteine-type endopeptidase activity involved in apoptotic process [GO:0043154]; nitric oxide transport [GO:0030185]; odontogenesis [GO:0042476]; pancreatic juice secretion [GO:0030157]; positive regulation of angiogenesis [GO:0045766]; positive regulation of fibroblast proliferation [GO:0048146]; positive regulation of saliva secretion [GO:0046878]; potassium ion transport [GO:0006813]; renal water homeostasis [GO:0003091]; renal water transport [GO:0003097]; response to drug [GO:0042493]; transepithelial water transport [GO:0035377]; water transport [GO:0006833]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=P29972-1; Sequence=Displayed; Name=2; IsoId=P29972-2; Sequence=VSP_046109, VSP_046110; Note=No experimental confirmation available.; Name=3; IsoId=P29972-3; Sequence=VSP_046679; Note=Gene prediction based on EST data.; Name=4; IsoId=P29972-4; Sequence=VSP_046680, VSP_046681; Note=Gene prediction based on EST data.; 

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:23219802}; Multi-pass membrane protein {ECO:0000269|PubMed:23219802}.


uniprotID: A6NL99
geneSymbol: AQP7P3
name: Putative aquaporin-7-like protein 3
length: 342
opentargets: integral component of membrane [GO:0016021]; channel activity [GO:0015267]
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Multi-pass membrane protein {ECO:0000305}.
sequence:


uniprotID: P10398
geneSymbol: ARAF
pdb: 1WXM;2MSE;
length: 606
go: ENSG00000078061;
drug: DB00171;
snps: rs56197559 rs55852926
reactome:
R-HSA-5673000;R-HSA-5674135;R-HSA-5675221;R-HSA-6802946;R-HSA-6802948;R-HSA-6802949;R-HSA-6802952;R-HSA-6802955;

name:
Serine/threonine-protein kinase A-Raf (EC 2.7.11.1) (Proto-oncogene A-Raf) (Proto-oncogene A-Raf-1) (Proto-oncogene Pks)

sequence:

opentargets:
cytosol [GO:0005829]; mitochondrion [GO:0005739]; ATP binding [GO:0005524]; metal ion binding [GO:0046872]; protein kinase activity [GO:0004672]; protein serine/threonine kinase activity [GO:0004674]; cellular protein modification process [GO:0006464]; MAPK cascade [GO:0000165]; negative regulation of apoptotic process [GO:0043066]; positive regulation of peptidyl-serine phosphorylation [GO:0033138]; regulation of proteasomal ubiquitin-dependent protein catabolic process [GO:0032434]; regulation of TOR signaling [GO:0032006]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P10398-1; Sequence=Displayed; Name=2; Synonyms=DA-Raf1; IsoId=P10398-2; Sequence=VSP_045609, VSP_045610; Note=Has a wider tissue distribution than isoform 1, and acts as dominant-negative antagonist.; 


uniprotID: Q96P48
geneSymbol: ARAP1
reactome: R-HSA-194840;R-HSA-8849469;
pdb: 4X1V;
length: 1450
go: ENSG00000186635;
snps: rs34976830 rs56200889
name:
Arf-GAP with Rho-GAP domain, ANK repeat and PH domain-containing protein 1 (Centaurin-delta-2) (Cnt-d2)

sequence:

opentargets:
cytoplasmic vesicle [GO:0031410]; cytosol [GO:0005829]; Golgi apparatus [GO:0005794]; Golgi cisterna membrane [GO:0032580]; intracellular membrane-bounded organelle [GO:0043231]; nucleoplasm [GO:0005654]; plasma membrane [GO:0005886]; trans-Golgi network [GO:0005802]; GTPase activator activity [GO:0005096]; metal ion binding [GO:0046872]; phosphatidylinositol-3,4,5-trisphosphate binding [GO:0005547]; type 1 angiotensin receptor binding [GO:0031702]; actin filament reorganization involved in cell cycle [GO:0030037]; negative regulation of stress fiber assembly [GO:0051497]; positive regulation of epidermal growth factor receptor signaling pathway [GO:0045742]; positive regulation of filopodium assembly [GO:0051491]; positive regulation of GTPase activity [GO:0043547]; positive regulation of receptor recycling [GO:0001921]; regulation of cell shape [GO:0008360]; regulation of cellular component movement [GO:0051270]; regulation of small GTPase mediated signal transduction [GO:0051056]; signal transduction [GO:0007165]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=7;  Name=6; IsoId=Q96P48-6; Sequence=Displayed; Name=1; IsoId=Q96P48-1; Sequence=VSP_036607, VSP_036608; Name=2; IsoId=Q96P48-2; Sequence=VSP_036607, VSP_036608, VSP_000311; Name=3; IsoId=Q96P48-3; Sequence=VSP_000311; Name=4; IsoId=Q96P48-4; Sequence=VSP_015000; Note=No experimental confirmation available.; Name=5; IsoId=Q96P48-5; Sequence=VSP_014998, VSP_015001, VSP_000311; Note=No experimental confirmation available.; Name=7; IsoId=Q96P48-7; Sequence=VSP_015000, VSP_043530, VSP_000311; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasm. Golgi apparatus, Golgi stack membrane; Peripheral membrane protein. Cell membrane. Note=Associated with Golgi stacks in resting cells. Throughout the cytoplasm and in surface protrusion in cells that are in the process of attaching to a surface and spreading.


uniprotID: P51878
geneSymbol: CASP5
length: 434
go: ENSG00000137757;
name:
Caspase-5 (CASP-5) (EC 3.4.22.58) (ICE(rel)-III) (Protease ICH-3) (Protease TY) [Cleaved into: Caspase-5 subunit p20; Caspase-5 subunit p10]

sequence:

opentargets:
cytoplasm [GO:0005737]; NLRP1 inflammasome complex [GO:0072558]; cysteine-type endopeptidase activity [GO:0004197]; cysteine-type endopeptidase activity involved in apoptotic signaling pathway [GO:0097199]; cysteine-type peptidase activity [GO:0008234]; activation of cysteine-type endopeptidase activity involved in apoptotic process [GO:0006919]; apoptotic process [GO:0006915]; cellular response to mechanical stimulus [GO:0071260]; proteolysis [GO:0006508]; substantia nigra development [GO:0021762]

snps:
rs45483102 rs1792778 rs3181320 rs45585331 rs507879 rs3181179 rs3181326 rs45464699 rs523104 rs45619739 rs45458695 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing, Alternative initiation; Named isoforms=6;  Name=1; Synonyms=caspase-5/a; IsoId=P51878-1; Sequence=Displayed; Note=Most abundant isoform.; Name=2; Synonyms=Caspase-5/b; IsoId=P51878-2; Sequence=VSP_038993; Note=Most abundant isoform.; Name=3; Synonyms=Caspase-5/c; IsoId=P51878-3; Sequence=VSP_038990; Name=4; Synonyms=Caspase-5/e; IsoId=P51878-4; Sequence=VSP_038993, VSP_038994, VSP_038995; Note=May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.; Name=5; Synonyms=Caspase-5/f; IsoId=P51878-5; Sequence=VSP_038992; Name=6; Synonyms=Caspase-5-S; IsoId=P51878-6; Sequence=VSP_038991; Note=Produced by alternative initiation at Met-71 of isoform 1.; 


uniprotID: P55212
geneSymbol: CASP6
reactome: R-HSA-111465;R-HSA-264870;R-HSA-352238;R-HSA-6803207;
length: 293
go: ENSG00000138794;
snps: rs11574697 rs5030674 rs5030593
location: SUBCELLULAR LOCATION: Cytoplasm.
pdb:
1MI9;2WDP;3K7E;3NKF;3NR2;3OD5;3P45;3P4U;3QNW;3S70;3S8E;3V6L;3V6M;4EJF;4FXO;4HVA;4IYR;4N5D;4N6G;4N7J;4N7M;4NBK;4NBL;4NBN;

name:
Caspase-6 (CASP-6) (EC 3.4.22.59) (Apoptotic protease Mch-2) [Cleaved into: Caspase-6 subunit p18; Caspase-6 subunit p11]

sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; nucleoplasm [GO:0005654]; cysteine-type endopeptidase activity [GO:0004197]; cysteine-type endopeptidase activity involved in apoptotic process [GO:0097153]; cysteine-type endopeptidase activity involved in execution phase of apoptosis [GO:0097200]; cysteine-type peptidase activity [GO:0008234]; identical protein binding [GO:0042802]; apoptotic process [GO:0006915]; cellular response to staurosporine [GO:0072734]; epithelial cell differentiation [GO:0030855]; execution phase of apoptosis [GO:0097194]; proteolysis [GO:0006508]; regulation of apoptotic process [GO:0042981]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=Alpha; IsoId=P55212-1; Sequence=Displayed; Name=Beta; IsoId=P55212-2; Sequence=VSP_000805; 


uniprotID: P55210
geneSymbol: CASP7
reactome: R-HSA-111459;R-HSA-111463;R-HSA-111464;R-HSA-111465;R-HSA-264870;
length: 303
go: ENSG00000165806;
drug: DB03384;DB05408;
snps: rs11555408 rs2227310
location: SUBCELLULAR LOCATION: Cytoplasm.
pdb:
1F1J;1GQF;1I4O;1I51;1K86;1K88;1KMC;1MIA;1SHJ;1SHL;2QL5;2QL7;2QL9;2QLB;2QLF;2QLJ;3EDR;3H1P;3IBC;3IBF;3R5K;4FDL;4FEA;4HQ0;4HQR;4JB8;4JJ8;4JR1;4JR2;4LSZ;4ZVO;4ZVP;4ZVQ;4ZVR;4ZVS;4ZVT;4ZVU;5IC6;5K20;5V6U;5V6Z;

name:
Caspase-7 (CASP-7) (EC 3.4.22.60) (Apoptotic protease Mch-3) (CMH-1) (ICE-like apoptotic protease 3) (ICE-LAP3) [Cleaved into: Caspase-7 subunit p20; Caspase-7 subunit p11]

sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; cysteine-type endopeptidase activity [GO:0004197]; cysteine-type endopeptidase activity involved in apoptotic process [GO:0097153]; cysteine-type endopeptidase activity involved in execution phase of apoptosis [GO:0097200]; cysteine-type peptidase activity [GO:0008234]; peptidase activity [GO:0008233]; apoptotic process [GO:0006915]; cellular response to staurosporine [GO:0072734]; execution phase of apoptosis [GO:0097194]; proteolysis [GO:0006508]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=Alpha; IsoId=P55210-1; Sequence=Displayed; Name=Beta; IsoId=P55210-2; Sequence=VSP_000807; Note=Lacks enzymatic activity.; Name=Alpha'; Synonyms=Beta; IsoId=P55210-3; Sequence=VSP_000806; Note=What we call isoform Alpha' is also known as Beta. {ECO:0000305|PubMed:9070923}; Name=4; IsoId=P55210-4; Sequence=VSP_045325; 


uniprotID: Q14790
geneSymbol: CASP8
pdb: 1F9E;1I4E;1QDU;1QTN;2C2Z;2FUN;2K7Z;2Y1L;3H11;3KJN;3KJQ;4JJ7;4PRZ;4PS1;4ZBW;5H31;5H33;5JQE;5L08;
length: 479
go: ENSG00000064012;
snps: rs35976359 rs17860424 rs1045485
location: SUBCELLULAR LOCATION: Cytoplasm.
reactome:
R-HSA-111465;R-HSA-140534;R-HSA-168638;R-HSA-2562578;R-HSA-264870;R-HSA-3371378;R-HSA-5213460;R-HSA-5218900;R-HSA-5357786;R-HSA-5357905;R-HSA-5660668;R-HSA-5675482;R-HSA-69416;R-HSA-75108;R-HSA-75153;R-HSA-75157;R-HSA-75158;R-HSA-9013957;R-HSA-933543;

name:
Caspase-8 (CASP-8) (EC 3.4.22.61) (Apoptotic cysteine protease) (Apoptotic protease Mch-5) (CAP4) (FADD-homologous ICE/ced-3-like protease) (FADD-like ICE) (FLICE) (ICE-like apoptotic protease 5) (MORT1-associated ced-3 homolog) (MACH) [Cleaved into: Caspase-8 subunit p18; Caspase-8 subunit p10]

sequence:

opentargets:
CD95 death-inducing signaling complex [GO:0031265]; cell body [GO:0044297]; cytoplasm [GO:0005737]; cytoskeleton [GO:0005856]; cytosol [GO:0005829]; death-inducing signaling complex [GO:0031264]; membrane raft [GO:0045121]; mitochondrial outer membrane [GO:0005741]; mitochondrion [GO:0005739]; neuron projection [GO:0043005]; nucleoplasm [GO:0005654]; ripoptosome [GO:0097342]; cysteine-type endopeptidase activity [GO:0004197]; cysteine-type endopeptidase activity involved in apoptotic process [GO:0097153]; cysteine-type endopeptidase activity involved in apoptotic signaling pathway [GO:0097199]; cysteine-type peptidase activity [GO:0008234]; death effector domain binding [GO:0035877]; death receptor binding [GO:0005123]; identical protein binding [GO:0042802]; peptidase activity [GO:0008233]; protein-containing complex binding [GO:0044877]; scaffold protein binding [GO:0097110]; tumor necrosis factor receptor binding [GO:0005164]; ubiquitin protein ligase binding [GO:0031625]; activation of cysteine-type endopeptidase activity [GO:0097202]; activation of cysteine-type endopeptidase activity involved in apoptotic process [GO:0006919]; activation of cysteine-type endopeptidase activity involved in apoptotic signaling pathway [GO:0097296]; apoptotic process [GO:0006915]; apoptotic signaling pathway [GO:0097190]; B cell activation [GO:0042113]; cell surface receptor signaling pathway [GO:0007166]; cellular response to mechanical stimulus [GO:0071260]; cellular response to organic cyclic compound [GO:0071407]; death-inducing signaling complex assembly [GO:0071550]; execution phase of apoptosis [GO:0097194]; extrinsic apoptotic signaling pathway [GO:0097191]; extrinsic apoptotic signaling pathway via death domain receptors [GO:0008625]; macrophage differentiation [GO:0030225]; natural killer cell activation [GO:0030101]; negative regulation of extrinsic apoptotic signaling pathway via death domain receptors [GO:1902042]; negative regulation of I-kappaB kinase/NF-kappaB signaling [GO:0043124]; nucleotide-binding oligomerization domain containing signaling pathway [GO:0070423]; positive regulation of I-kappaB kinase/NF-kappaB signaling [GO:0043123]; positive regulation of macrophage differentiation [GO:0045651]; positive regulation of neuron death [GO:1901216]; positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway [GO:1900740]; positive regulation of proteolysis [GO:0045862]; proteolysis [GO:0006508]; proteolysis involved in cellular protein catabolic process [GO:0051603]; regulation of extrinsic apoptotic signaling pathway via death domain receptors [GO:1902041]; regulation of necroptotic process [GO:0060544]; regulation of tumor necrosis factor-mediated signaling pathway [GO:0010803]; response to cobalt ion [GO:0032025]; response to cold [GO:0009409]; response to estradiol [GO:0032355]; response to ethanol [GO:0045471]; response to lipopolysaccharide [GO:0032496]; response to tumor necrosis factor [GO:0034612]; suppression by virus of host cysteine-type endopeptidase activity involved in apoptotic process [GO:0039650]; syncytiotrophoblast cell differentiation involved in labyrinthine layer development [GO:0060715]; T cell activation [GO:0042110]; toll-like receptor 3 signaling pathway [GO:0034138]; TRAIL-activated apoptotic signaling pathway [GO:0036462]; TRIF-dependent toll-like receptor signaling pathway [GO:0035666]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=9;  Name=1; Synonyms=Alpha-1; IsoId=Q14790-1; Sequence=Displayed; Name=2; Synonyms=Alpha-2, MCH5-beta; IsoId=Q14790-2; Sequence=VSP_000810; Name=3; Synonyms=Alpha-3; IsoId=Q14790-3; Sequence=VSP_000813; Name=4; Synonyms=Alpha-4; IsoId=Q14790-4; Sequence=VSP_000809, VSP_000810; Name=5; Synonyms=Beta-1; IsoId=Q14790-5; Sequence=VSP_000814, VSP_000815; Name=6; Synonyms=Beta-2; IsoId=Q14790-6; Sequence=VSP_000811, VSP_000812; Name=7; Synonyms=Beta-3, 8L; IsoId=Q14790-7; Sequence=VSP_000816, VSP_000817; Note=May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.; Name=8; Synonyms=Beta-4; IsoId=Q14790-8; Sequence=VSP_000810, VSP_000816, VSP_000817; Name=9; Synonyms=8L; IsoId=Q14790-9; Sequence=VSP_000808; 


uniprotID: O15033
geneSymbol: AREL1
reactome: R-HSA-983168;
length: 823
go: ENSG00000119682;
location: SUBCELLULAR LOCATION: Cytoplasm, cytosol {ECO:0000269|PubMed:23479728}.
name:
Apoptosis-resistant E3 ubiquitin protein ligase 1 (EC 2.3.2.26) (Apoptosis-resistant HECT-type E3 ubiquitin transferase 1)

sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; ubiquitin protein ligase activity [GO:0061630]; ubiquitin-protein transferase activity [GO:0004842]; apoptotic process [GO:0006915]; negative regulation of apoptotic process [GO:0043066]; positive regulation of protein catabolic process [GO:0045732]; proteasome-mediated ubiquitin-dependent protein catabolic process [GO:0043161]; protein polyubiquitination [GO:0000209]; protein ubiquitination [GO:0016567]; ubiquitin-dependent protein catabolic process [GO:0006511]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=O15033-1; Sequence=Displayed; Name=2; IsoId=O15033-2; Sequence=VSP_013259; Note=No experimental confirmation available.; 


uniprotID: Q92851
geneSymbol: CASP10
reactome: R-HSA-6803207;R-HSA-75157;R-HSA-75158;R-HSA-933543;
length: 521
go: ENSG00000003400;
name:
Caspase-10 (CASP-10) (EC 3.4.22.63) (Apoptotic protease Mch-4) (FAS-associated death domain protein interleukin-1B-converting enzyme 2) (FLICE2) (ICE-like apoptotic protease 4) [Cleaved into: Caspase-10 subunit p23/17; Caspase-10 subunit p12]

sequence:

opentargets:
CD95 death-inducing signaling complex [GO:0031265]; cytoplasm [GO:0005737]; cytosol [GO:0005829]; ripoptosome [GO:0097342]; cysteine-type endopeptidase activity [GO:0004197]; cysteine-type endopeptidase activity involved in apoptotic process [GO:0097153]; cysteine-type endopeptidase activity involved in apoptotic signaling pathway [GO:0097199]; death effector domain binding [GO:0035877]; ubiquitin protein ligase binding [GO:0031625]; activation of cysteine-type endopeptidase activity involved in apoptotic process [GO:0006919]; apoptotic process [GO:0006915]; apoptotic signaling pathway [GO:0097190]; cell surface receptor signaling pathway [GO:0007166]; execution phase of apoptosis [GO:0097194]; positive regulation of I-kappaB kinase/NF-kappaB signaling [GO:0043123]; regulation of apoptotic process [GO:0042981]

snps:
rs559979934 rs121909776 rs41473647 rs17860403 rs80358239 rs13010627 rs28936699 rs41513147 rs17860405 rs13006529 rs13006529 rs13006529 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=7;  Name=A; Synonyms=10-A; IsoId=Q92851-1; Sequence=Displayed; Name=B; Synonyms=10-B, 10-S; IsoId=Q92851-2; Sequence=VSP_000819, VSP_000820; Note=May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.; Name=D; Synonyms=10-D, 10-L; IsoId=Q92851-4; Sequence=VSP_000820; Name=C; Synonyms=10-C; IsoId=Q92851-3; Sequence=VSP_000821, VSP_000822; Note=May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.; Name=5; IsoId=Q92851-5; Sequence=VSP_000819; Name=6; IsoId=Q92851-6; Sequence=VSP_037229, VSP_000820; Name=7; Synonyms=10-G, 10g; IsoId=Q92851-7; Sequence=VSP_053333, VSP_053334; 


uniprotID: P53365
geneSymbol: ARFIP2
reactome: R-HSA-6811440;
pdb: 1I49;1I4D;1I4L;1I4T;4DCN;
name: Arfaptin-2 (ADP-ribosylation factor-interacting protein 2) (Partner of RAC1) (Protein POR1)
length: 341
go: ENSG00000132254;
sequence:

opentargets:
cell cortex [GO:0005938]; cytoplasm [GO:0005737]; cytosol [GO:0005829]; plasma membrane [GO:0005886]; ruffle [GO:0001726]; trans-Golgi network membrane [GO:0032588]; cadherin binding [GO:0045296]; GTP binding [GO:0005525]; GTP-dependent protein binding [GO:0030742]; identical protein binding [GO:0042802]; phosphatidylinositol-4-phosphate binding [GO:0070273]; phospholipid binding [GO:0005543]; protein domain specific binding [GO:0019904]; Rac GTPase binding [GO:0048365]; actin cytoskeleton organization [GO:0030036]; intracellular protein transport [GO:0006886]; lamellipodium assembly [GO:0030032]; ruffle organization [GO:0031529]; small GTPase mediated signal transduction [GO:0007264]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=P53365-1; Sequence=Displayed; Name=2; IsoId=P53365-2; Sequence=VSP_042524; Note=No experimental confirmation available.; Name=3; IsoId=P53365-3; Sequence=VSP_046913; 


uniprotID: Q13948
geneSymbol: CUX1
reactome: R-HSA-6811438;
name: Protein CASP
length: 678
go: ENSG00000257923;
snps: rs803064 rs2230103
sequence:

opentargets:
Golgi apparatus [GO:0005794]; Golgi membrane [GO:0000139]; integral component of Golgi membrane [GO:0030173]; nucleoplasm [GO:0005654]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; intra-Golgi vesicle-mediated transport [GO:0006891]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=11;  Comment=Additional isoforms seem to exist.; Name=4; Synonyms=CASP; IsoId=Q13948-1; Sequence=Displayed; Name=11; IsoId=P39880-9; Sequence=External; Note=No experimental confirmation available.; Name=1; IsoId=P39880-1; Sequence=External; Name=2; IsoId=P39880-2; Sequence=External; Name=3; IsoId=P39880-3; Sequence=External; Note=No experimental confirmation available.; Name=5; IsoId=P39880-4; Sequence=External; Name=6; IsoId=P39880-5; Sequence=External; Name=7; IsoId=P39880-6; Sequence=External; Name=8; IsoId=Q13948-2; Sequence=VSP_040094; Note=No experimental confirmation available.; Name=9; IsoId=Q13948-9; Sequence=VSP_045593, VSP_040094; Note=No experimental confirmation available.; Name=10; IsoId=Q13948-10; Sequence=VSP_045927; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Golgi apparatus membrane {ECO:0000269|PubMed:12429822}; Single-pass type IV membrane protein {ECO:0000269|PubMed:12429822}.


uniprotID: Q9NP61
geneSymbol: ARFGAP3
reactome: R-HSA-6807878;R-HSA-6811434;
pdb: 2CRW;
name: ADP-ribosylation factor GTPase-activating protein 3 (ARF GAP 3)
length: 516
go: ENSG00000242247;
snps: rs9607957 rs1018448 rs16986123 rs35498349 rs36003980 rs11551619
sequence:

opentargets:
cytosol [GO:0005829]; endoplasmic reticulum-Golgi intermediate compartment [GO:0005793]; Golgi apparatus [GO:0005794]; Golgi membrane [GO:0000139]; membrane [GO:0016020]; trans-Golgi network [GO:0005802]; GTPase activator activity [GO:0005096]; metal ion binding [GO:0046872]; protein transporter activity [GO:0008565]; COPI coating of Golgi vesicle [GO:0048205]; ER to Golgi vesicle-mediated transport [GO:0006888]; intracellular protein transport [GO:0006886]; protein secretion [GO:0009306]; retrograde vesicle-mediated transport, Golgi to ER [GO:0006890]; vesicle-mediated transport [GO:0016192]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9NP61-1; Sequence=Displayed; Name=2; IsoId=Q9NP61-2; Sequence=VSP_046888; Note=Gene prediction based on EST data.; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:17760859}. Golgi apparatus membrane {ECO:0000269|PubMed:17760859}; Peripheral membrane protein {ECO:0000269|PubMed:17760859}; Cytoplasmic side {ECO:0000269|PubMed:17760859}. Note=Also found on peripheral punctate structures likely to be endoplasmic reticulum-Golgi intermediate compartment.


uniprotID: A5YM69
geneSymbol: ARHGEF35
reactome: R-HSA-193648;R-HSA-194840;R-HSA-416482;
name: Rho guanine nucleotide exchange factor 35 (Rho guanine nucleotide exchange factor 5-like protein)
length: 484
go: ENSG00000213214;
sequence:


uniprotID: A6NHX0
geneSymbol: CASTOR2
length: 329
go: ENSG00000274070;
location: SUBCELLULAR LOCATION: Cytoplasm, cytosol {ECO:0000269|PubMed:26972053}.
name:
Cytosolic arginine sensor for mTORC1 subunit 2 (Cellular arginine sensor for mTORC1 protein 2) (GATS-like protein 2)

sequence:

opentargets:
cytosol [GO:0005829]; identical protein binding [GO:0042802]; cellular response to L-arginine [GO:1903577]; negative regulation of TORC1 signaling [GO:1904262]; regulation of intracellular signal transduction [GO:1902531]


uniprotID: P07339
geneSymbol: CTSD
reactome: R-HSA-1442490;R-HSA-2022377;R-HSA-2132295;R-HSA-6798695;R-HSA-9018519;
pdb: 1LYA;1LYB;1LYW;4OBZ;4OC6;4OD9;
name: Cathepsin D (EC 3.4.23.5) [Cleaved into: Cathepsin D light chain; Cathepsin D heavy chain]
length: 412
go: ENSG00000117984;
drug: DB03028;DB07542;DB00030;DB00071;DB03096;DB02216;
snps: rs17571 rs121912789 rs147278302 rs121912790
sequence:

opentargets:
collagen-containing extracellular matrix [GO:0062023]; extracellular exosome [GO:0070062]; extracellular region [GO:0005576]; extracellular space [GO:0005615]; ficolin-1-rich granule lumen [GO:1904813]; lysosomal lumen [GO:0043202]; lysosome [GO:0005764]; melanosome [GO:0042470]; membrane raft [GO:0045121]; specific granule lumen [GO:0035580]; tertiary granule lumen [GO:1904724]; aspartic-type endopeptidase activity [GO:0004190]; cysteine-type endopeptidase activity [GO:0004197]; serine-type endopeptidase activity [GO:0004252]; antigen processing and presentation of exogenous peptide antigen via MHC class II [GO:0019886]; collagen catabolic process [GO:0030574]; neutrophil degranulation [GO:0043312]; protein catabolic process [GO:0030163]; proteolysis [GO:0006508]

location:
SUBCELLULAR LOCATION: Lysosome. Melanosome. Secreted, extracellular space. Note=Identified by mass spectrometry in melanosome fractions from stage I to stage IV. In aortic samples, detected as an extracellular protein loosely bound to the matrix (PubMed:20551380). {ECO:0000269|PubMed:20551380}.


uniprotID: P14091
geneSymbol: CTSE
reactome: R-HSA-2132295;
pdb: 1LCG;1TZS;
name: Cathepsin E (EC 3.4.23.34) [Cleaved into: Cathepsin E form I; Cathepsin E form II]
length: 396
go: ENSG00000196188;
snps: rs57621203 rs6503
sequence:

opentargets:
endosome [GO:0005768]; aspartic-type endopeptidase activity [GO:0004190]; protein homodimerization activity [GO:0042803]; antigen processing and presentation of exogenous peptide antigen via MHC class II [GO:0019886]; protein autoprocessing [GO:0016540]; protein catabolic process [GO:0030163]; proteolysis [GO:0006508]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=P14091-1; Sequence=Displayed; Name=2; IsoId=P14091-2; Sequence=VSP_059426; Name=3; IsoId=P14091-3; Sequence=VSP_059425; Note=Dubious isoform produced through aberrant splice sites. {ECO:0000305}; 

location:
SUBCELLULAR LOCATION: Endosome {ECO:0000269|PubMed:7983070}. Note=The proenzyme is localized to the endoplasmic reticulum and Golgi apparatus, while the mature enzyme is localized to the endosome.


uniprotID: Q9UBX1
geneSymbol: CTSF
reactome: R-HSA-2132295;
pdb: 1D5U;1M6D;
name: Cathepsin F (CATSF) (EC 3.4.22.41)
length: 484
go: ENSG00000174080;
drug: DB02243;DB01871;DB03536;DB08775;DB07913;DB03691;DB03573;
snps: rs11550508 rs143889283 rs397514731 rs397514732 rs397514733
location: SUBCELLULAR LOCATION: Lysosome.
sequence:

opentargets:
extracellular exosome [GO:0070062]; extracellular space [GO:0005615]; extracellular vesicle [GO:1903561]; lysosomal lumen [GO:0043202]; lysosome [GO:0005764]; cysteine-type endopeptidase activity [GO:0004197]; antigen processing and presentation of exogenous peptide antigen via MHC class II [GO:0019886]; proteolysis [GO:0006508]; proteolysis involved in cellular protein catabolic process [GO:0051603]


uniprotID: Q8WUQ7
geneSymbol: CACTIN
name: Cactin (Renal carcinoma antigen NY-REN-24)
length: 758
go: ENSG00000105298;
sequence:

opentargets:
catalytic step 2 spliceosome [GO:0071013]; cytosol [GO:0005829]; nuclear speck [GO:0016607]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; RNA binding [GO:0003723]; cellular response to interleukin-1 [GO:0071347]; cellular response to lipopolysaccharide [GO:0071222]; cellular response to tumor necrosis factor [GO:0071356]; innate immune response [GO:0045087]; mRNA splicing, via spliceosome [GO:0000398]; multicellular organism development [GO:0007275]; negative regulation of interferon-beta production [GO:0032688]; negative regulation of interleukin-8 production [GO:0032717]; negative regulation of lipopolysaccharide-mediated signaling pathway [GO:0031665]; negative regulation of NF-kappaB transcription factor activity [GO:0032088]; negative regulation of protein phosphorylation [GO:0001933]; negative regulation of toll-like receptor signaling pathway [GO:0034122]; negative regulation of tumor necrosis factor production [GO:0032720]; negative regulation of type I interferon-mediated signaling pathway [GO:0060339]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q8WUQ7-1; Sequence=Displayed; Note=May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.; Name=2; IsoId=Q8WUQ7-2; Sequence=VSP_017856; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:20829348}. Note=Nuclear localization with a speckled expression pattern in some cells. Colocalizes with NFKBIL1 in the nucleus.


uniprotID: Q7Z7H3
geneSymbol: CATIP
name: Ciliogenesis-associated TTC17-interacting protein
length: 387
go: ENSG00000158428;
sequence:

opentargets:
actin cytoskeleton [GO:0015629]; cytoplasm [GO:0005737]; nucleus [GO:0005634]; plasma membrane [GO:0005886]; actin filament polymerization [GO:0030041]; cilium organization [GO:0044782]

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:24475127}. Cytoplasm {ECO:0000269|PubMed:24475127}. Cell membrane {ECO:0000269|PubMed:24475127}. Cytoplasm, cytoskeleton {ECO:0000269|PubMed:24475127}. Note=Colocalized with TTC17 at F-actin rich zones and at dynamic plasma membrane protrusions.


uniprotID: P43235
geneSymbol: CTSK
reactome: R-HSA-1442490;R-HSA-1474228;R-HSA-1592389;R-HSA-1679131;R-HSA-2132295;R-HSA-8939242;
name: Cathepsin K (EC 3.4.22.38) (Cathepsin O) (Cathepsin O2) (Cathepsin X)
length: 329
go: ENSG00000143387;
snps: rs74315305 rs74315302 rs74315304 rs29001685
location: SUBCELLULAR LOCATION: Lysosome.
pdb:
1ATK;1AU0;1AU2;1AU3;1AU4;1AYU;1AYV;1AYW;1BGO;1BY8;1MEM;1NL6;1NLJ;1Q6K;1SNK;1TU6;1U9V;1U9W;1U9X;1VSN;1YK7;1YK8;1YT7;2ATO;2AUX;2AUZ;2BDL;2R6N;3C9E;3H7D;3KW9;3KWB;3KWZ;3KX1;3O0U;3O1G;3OVZ;4DMX;4DMY;4N79;4N8W;4X6H;4X6I;4X6J;4YV8;4YVA;5J94;5JA7;5JH3;5TDI;5TUN;5Z5O;6ASH;7PCK;

sequence:

opentargets:
endolysosome lumen [GO:0036021]; extracellular region [GO:0005576]; extracellular space [GO:0005615]; intracellular membrane-bounded organelle [GO:0043231]; lysosomal lumen [GO:0043202]; lysosome [GO:0005764]; nucleoplasm [GO:0005654]; collagen binding [GO:0005518]; cysteine-type endopeptidase activity [GO:0004197]; cysteine-type peptidase activity [GO:0008234]; fibronectin binding [GO:0001968]; proteoglycan binding [GO:0043394]; serine-type endopeptidase activity [GO:0004252]; autophagy of mitochondrion [GO:0000422]; bone resorption [GO:0045453]; collagen catabolic process [GO:0030574]; extracellular matrix disassembly [GO:0022617]; intramembranous ossification [GO:0001957]; negative regulation of cartilage development [GO:0061037]; proteolysis [GO:0006508]; proteolysis involved in cellular protein catabolic process [GO:0051603]; regulation of keratinocyte differentiation [GO:0045616]

drug:
DB07592;DB07593;DB04244;DB03405;DB02869;DB07965;DB07967;DB01858;DB03642;DB05736;DB04234;DB03456;DB08594;DB04523;


uniprotID: O60911
geneSymbol: CTSV
reactome: R-HSA-1236977;R-HSA-1474228;R-HSA-1592389;R-HSA-1679131;R-HSA-2022090;R-HSA-2132295;R-HSA-8939242;
pdb: 1FH0;3H6S;3KFQ;
name: Cathepsin L2 (EC 3.4.22.43) (Cathepsin U) (Cathepsin V)
length: 334
go: ENSG00000136943;
drug: DB02869;DB04451;
location: SUBCELLULAR LOCATION: Lysosome {ECO:0000305}.
sequence:

opentargets:
apical part of cell [GO:0045177]; external side of plasma membrane [GO:0009897]; extracellular region [GO:0005576]; extracellular space [GO:0005615]; lysosomal lumen [GO:0043202]; lysosome [GO:0005764]; microvillus [GO:0005902]; neuron projection [GO:0043005]; perikaryon [GO:0043204]; secretory granule [GO:0030141]; aminopeptidase activity [GO:0004177]; cysteine-type endopeptidase activity [GO:0004197]; cysteine-type peptidase activity [GO:0008234]; kininogen binding [GO:0030984]; peptide binding [GO:0042277]; protein-containing complex binding [GO:0044877]; serine-type endopeptidase activity [GO:0004252]; antigen processing and presentation of exogenous peptide antigen via MHC class II [GO:0019886]; autophagic cell death [GO:0048102]; cellular response to starvation [GO:0009267]; decidualization [GO:0046697]; extracellular matrix disassembly [GO:0022617]; multicellular organism aging [GO:0010259]; nerve development [GO:0021675]; proteolysis involved in cellular protein catabolic process [GO:0051603]; regulation of keratinocyte differentiation [GO:0045616]; response to glucocorticoid [GO:0051384]; response to glucose [GO:0009749]; response to gonadotropin [GO:0034698]; response to odorant [GO:1990834]; Sertoli cell differentiation [GO:0060008]; spermatogenesis [GO:0007283]


uniprotID: Q5NE16
geneSymbol: CTSL3P
name: Putative inactive cathepsin L-like protein CTSL3P (Cathepsin L3 pseudogene) (HCTSL-s)
length: 218
opentargets: cysteine-type peptidase activity [GO:0008234]
snps: rs11141967
sequence:


uniprotID: P43234
geneSymbol: CTSO
reactome: R-HSA-2132295;
name: Cathepsin O (EC 3.4.22.42)
length: 321
go: ENSG00000256043;
location: SUBCELLULAR LOCATION: Lysosome.
sequence:

opentargets:
extracellular space [GO:0005615]; lysosome [GO:0005764]; cysteine-type endopeptidase activity [GO:0004197]; proteolysis [GO:0006508]; proteolysis involved in cellular protein catabolic process [GO:0051603]


uniprotID: Q03135
geneSymbol: CAV1
reactome: R-HSA-163560;R-HSA-203615;R-HSA-203641;R-HSA-210991;R-HSA-4641262;R-HSA-5218920;
name: Caveolin-1
length: 178
go: ENSG00000105974;
sequence:
MSGGKYVDSEGHLYTVPIREQGNIYKPNNKAMADELSEKQVYDAHTKEIDLVNRDPKHLNDDVVKIDFEDVIAEPEGTHSFDGIWKASFTTFTVTKYWFYRLLSALFGIPMALIWGIYFAILSFLHIWAVVPCIKSFLIEIQCISRVYSIYVHTVCDPLFEAVGKIFSNVRINLQKEI

opentargets:
acrosomal membrane [GO:0002080]; apical plasma membrane [GO:0016324]; basolateral plasma membrane [GO:0016323]; caveola [GO:0005901]; cell cortex [GO:0005938]; cilium [GO:0005929]; cytoplasmic vesicle [GO:0031410]; early endosome membrane [GO:0031901]; endocytic vesicle membrane [GO:0030666]; endoplasmic reticulum [GO:0005783]; endoplasmic reticulum membrane [GO:0005789]; endosome [GO:0005768]; focal adhesion [GO:0005925]; Golgi apparatus [GO:0005794]; Golgi membrane [GO:0000139]; integral component of plasma membrane [GO:0005887]; lipid droplet [GO:0005811]; membrane [GO:0016020]; membrane raft [GO:0045121]; perinuclear region of cytoplasm [GO:0048471]; plasma membrane [GO:0005886]; protein-containing complex [GO:0032991]; ATPase binding [GO:0051117]; cholesterol binding [GO:0015485]; enzyme binding [GO:0019899]; identical protein binding [GO:0042802]; inward rectifier potassium channel inhibitor activity [GO:0070320]; ion channel binding [GO:0044325]; nitric-oxide synthase binding [GO:0050998]; patched binding [GO:0005113]; peptidase activator activity [GO:0016504]; protein binding, bridging [GO:0030674]; protein heterodimerization activity [GO:0046982]; protein kinase binding [GO:0019901]; protein-containing complex scaffold activity [GO:0032947]; Rac GTPase binding [GO:0048365]; signaling receptor binding [GO:0005102]; structural molecule activity [GO:0005198]; angiogenesis [GO:0001525]; angiotensin-activated signaling pathway involved in heart process [GO:0086098]; apoptotic signaling pathway [GO:0097190]; beta-catenin destruction complex disassembly [GO:1904886]; calcium ion homeostasis [GO:0055074]; calcium ion transport [GO:0006816]; caveola assembly [GO:0070836]; caveolin-mediated endocytosis [GO:0072584]; cell differentiation [GO:0030154]; cellular calcium ion homeostasis [GO:0006874]; cellular response to exogenous dsRNA [GO:0071360]; cellular response to hyperoxia [GO:0071455]; cellular response to peptide hormone stimulus [GO:0071375]; cellular response to starvation [GO:0009267]; cellular response to transforming growth factor beta stimulus [GO:0071560]; cholesterol homeostasis [GO:0042632]; cholesterol transport [GO:0030301]; inactivation of MAPK activity [GO:0000188]; lactation [GO:0007595]; leukocyte migration [GO:0050900]; lipid storage [GO:0019915]; maintenance of protein location in cell [GO:0032507]; mammary gland development [GO:0030879]; mammary gland involution [GO:0060056]; membrane depolarization [GO:0051899]; negative regulation of anoikis [GO:2000811]; negative regulation of BMP signaling pathway [GO:0030514]; negative regulation of canonical Wnt signaling pathway [GO:0090090]; negative regulation of cytokine-mediated signaling pathway [GO:0001960]; negative regulation of endothelial cell proliferation [GO:0001937]; negative regulation of epithelial cell differentiation [GO:0030857]; negative regulation of inward rectifier potassium channel activity [GO:1903609]; negative regulation of JAK-STAT cascade [GO:0046426]; negative regulation of MAPK cascade [GO:0043409]; negative regulation of necroptotic process [GO:0060546]; negative regulation of nitric oxide biosynthetic process [GO:0045019]; negative regulation of nitric-oxide synthase activity [GO:0051001]; negative regulation of peptidyl-serine phosphorylation [GO:0033137]; negative regulation of peptidyl-tyrosine autophosphorylation [GO:1900085]; negative regulation of pinocytosis [GO:0048550]; negative regulation of potassium ion transmembrane transport [GO:1901380]; negative regulation of protein binding [GO:0032091]; negative regulation of protein tyrosine kinase activity [GO:0061099]; negative regulation of protein ubiquitination [GO:0031397]; negative regulation of transcription by RNA polymerase II [GO:0000122]; negative regulation of transforming growth factor beta receptor signaling pathway [GO:0030512]; negative regulation of tyrosine phosphorylation of STAT protein [GO:0042532]; nitric oxide homeostasis [GO:0033484]; positive regulation of calcium ion transport into cytosol [GO:0010524]; positive regulation of canonical Wnt signaling pathway [GO:0090263]; positive regulation of catalytic activity [GO:0043085]; positive regulation of cell adhesion molecule production [GO:0060355]; positive regulation of cell migration [GO:0030335]; positive regulation of cold-induced thermogenesis [GO:0120162]; positive regulation of ER-associated ubiquitin-dependent protein catabolic process [GO:1903071]; positive regulation of extrinsic apoptotic signaling pathway [GO:2001238]; positive regulation of gap junction assembly [GO:1903598]; positive regulation of gene expression [GO:0010628]; positive regulation of intrinsic apoptotic signaling pathway [GO:2001244]; positive regulation of peptidyl-serine phosphorylation [GO:0033138]; positive regulation of protein binding [GO:0032092]; positive regulation of protein ubiquitination [GO:0031398]; positive regulation of toll-like receptor 3 signaling pathway [GO:0034141]; positive regulation of vasoconstriction [GO:0045907]; posttranscriptional regulation of gene expression [GO:0010608]; protein homooligomerization [GO:0051260]; protein localization [GO:0008104]; protein localization to basolateral plasma membrane [GO:1903361]; protein localization to plasma membrane raft [GO:0044860]; receptor internalization [GO:0031623]; receptor internalization involved in canonical Wnt signaling pathway [GO:2000286]; receptor-mediated endocytosis of virus by host cell [GO:0019065]; regulation of blood coagulation [GO:0030193]; regulation of cardiac muscle cell action potential involved in regulation of contraction [GO:0098909]; regulation of cell communication by electrical coupling involved in cardiac conduction [GO:1901844]; regulation of cytosolic calcium ion concentration [GO:0051480]; regulation of entry of bacterium into host cell [GO:2000535]; regulation of fatty acid metabolic process [GO:0019217]; regulation of heart rate by cardiac conduction [GO:0086091]; regulation of membrane repolarization during action potential [GO:0098903]; regulation of nitric-oxide synthase activity [GO:0050999]; regulation of peptidase activity [GO:0052547]; regulation of ruffle assembly [GO:1900027]; regulation of smooth muscle contraction [GO:0006940]; regulation of the force of heart contraction by chemical signal [GO:0003057]; regulation of ventricular cardiac muscle cell action potential [GO:0098911]; response to bacterium [GO:0009617]; response to calcium ion [GO:0051592]; response to estrogen [GO:0043627]; response to hypoxia [GO:0001666]; response to ischemia [GO:0002931]; response to progesterone [GO:0032570]; skeletal muscle tissue development [GO:0007519]; T cell costimulation [GO:0031295]; triglyceride metabolic process [GO:0006641]; vasculogenesis [GO:0001570]; vasoconstriction [GO:0042310]; vesicle organization [GO:0016050]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative initiation; Named isoforms=2;  Name=1; IsoId=Q03135-1; Sequence=Displayed; Name=2; IsoId=Q03135-2; Sequence=VSP_018692; 

location:
SUBCELLULAR LOCATION: Golgi apparatus membrane; Peripheral membrane protein. Cell membrane; Peripheral membrane protein. Membrane, caveola {ECO:0000269|PubMed:19262564, ECO:0000269|PubMed:25588833}; Peripheral membrane protein. Membrane raft {ECO:0000269|PubMed:25893292}. Golgi apparatus, trans-Golgi network {ECO:0000250|UniProtKB:P33724}. Note=Colocalized with DPP4 in membrane rafts. Potential hairpin-like structure in the membrane. Membrane protein of caveolae.


uniprotID: A6NJG6
geneSymbol: ARGFX
name: Arginine-fifty homeobox
length: 315
go: ENSG00000186103;
snps: rs9813391
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000255|PROSITE-ProRule:PRU00108}.
sequence:

opentargets:
nucleus [GO:0005634]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; sequence-specific DNA binding [GO:0043565]


uniprotID: Q13938
geneSymbol: CAPS
pdb: 3E3R;
name: Calcyphosin (Calcyphosine)
length: 275
go: ENSG00000105519;
snps: rs7249419
location: SUBCELLULAR LOCATION: Cytoplasm.
sequence:

opentargets:
cytoplasm [GO:0005737]; vesicle [GO:0031982]; calcium ion binding [GO:0005509]; intracellular signal transduction [GO:0035556]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q13938-1; Sequence=Displayed; Name=2; IsoId=Q13938-3; Sequence=VSP_055154; Note=No experimental confirmation available.; Name=3; IsoId=Q13938-4; Sequence=VSP_059695; 


uniprotID: P52907
geneSymbol: CAPZA1
reactome: R-HSA-2132295;R-HSA-3371497;R-HSA-6807878;R-HSA-6811436;R-HSA-879415;R-HSA-8950505;R-HSA-983231;
pdb: 1MQ1;1MWN;
name: F-actin-capping protein subunit alpha-1 (CapZ alpha-1)
length: 286
go: ENSG00000116489;
snps: rs555597264
location: SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton {ECO:0000250}.
sequence:

opentargets:
actin cortical patch [GO:0030479]; actin cytoskeleton [GO:0015629]; cytoskeleton [GO:0005856]; cytosol [GO:0005829]; extracellular exosome [GO:0070062]; extracellular region [GO:0005576]; F-actin capping protein complex [GO:0008290]; WASH complex [GO:0071203]; actin binding [GO:0003779]; actin filament binding [GO:0051015]; cadherin binding [GO:0045296]; actin cytoskeleton organization [GO:0030036]; antigen processing and presentation of exogenous peptide antigen via MHC class II [GO:0019886]; barbed-end actin filament capping [GO:0051016]; blood coagulation [GO:0007596]; cell junction assembly [GO:0034329]; ER to Golgi vesicle-mediated transport [GO:0006888]; innate immune response [GO:0045087]; interleukin-12-mediated signaling pathway [GO:0035722]; protein-containing complex assembly [GO:0065003]


uniprotID: Q96KX2
geneSymbol: CAPZA3
reactome: R-HSA-2132295;R-HSA-3371497;R-HSA-6807878;R-HSA-6811436;
name: F-actin-capping protein subunit alpha-3 (CapZ alpha-3) (CP-alpha-3) (Germ cell-specific protein 3)
length: 299
go: ENSG00000177938;
sequence:

opentargets:
acrosomal vesicle [GO:0001669]; actin cortical patch [GO:0030479]; cytosol [GO:0005829]; F-actin capping protein complex [GO:0008290]; membrane [GO:0016020]; nucleus [GO:0005634]; actin filament binding [GO:0051015]; actin cytoskeleton organization [GO:0030036]; antigen processing and presentation of exogenous peptide antigen via MHC class II [GO:0019886]; barbed-end actin filament capping [GO:0051016]; ER to Golgi vesicle-mediated transport [GO:0006888]; spermatid development [GO:0007286]


uniprotID: Q68DN1
geneSymbol: C2orf16
name: Uncharacterized protein C2orf16
length: 1984
go: ENSG00000221843;
opentargets: extracellular exosome [GO:0070062]; nucleus [GO:0005634]
sequence:

snps:
rs17006143 rs13410886 rs1919125 rs1919126 rs1919127 rs13416968 rs1919128 rs12618071 rs13392197 rs13031957 rs28381983 


uniprotID: Q9NWW7
geneSymbol: C2orf42
name: Uncharacterized protein C2orf42
length: 574
go: ENSG00000115998;
opentargets: nuclear membrane [GO:0031965]; nucleus [GO:0005634]
snps: rs3213941
sequence:


uniprotID: Q6ZSB3
geneSymbol: LINC00299
name: Putative uncharacterized protein encoded by LINC00299
length: 139
sequence:
MVQREKARDNFEGGCLAELIGSPRDWKCFLAVPDPLLGVQHWLHLWRPQTKDGNSLHRHGDQAWGKHRRQNSLKSPALSGHSIDYHFYPRLRCGMLIGPDKQAVASGLEVLVTSSTKILGQLFPDAAHFLEEASEFKAE


uniprotID: Q96LR7
geneSymbol: C2orf50
name: Uncharacterized protein C2orf50
length: 162
go: ENSG00000150873;
sequence:
MGSHPTPGLQRTTSAGYRLPPTRPPASVSPAARGGPMASRGLAGGCQAPQALKAQRVAQGAACDGVQQDQLWRELLEAERRGQQRWIQNWSFLKDYDPMGNKKEPEKLPDHVPLFSDTVPSSTNQVVGSRLDTPLGQTLIRMDFFFTEGARKKKLEDQMQPI


uniprotID: Q8N535
geneSymbol: LINC00471
name: Putative uncharacterized protein encoded by LINC00471
length: 108
sequence:
MSEAKDNGSRDEVLVPHKNCRKNTTVPGKKGEEKSLAPVFAEKLISPSRRGAKLKDRESHQENEDRNSELDQDEEDKESFCRGFPMSGCELETSCCVCHSTALGERFC


uniprotID: Q9NXW9
geneSymbol: ALKBH4
length: 302
go: ENSG00000160993;
snps: rs41275227
name:
Alpha-ketoglutarate-dependent dioxygenase alkB homolog 4 (EC 1.14.11.-) (Alkylated DNA repair protein alkB homolog 4)

sequence:

opentargets:
contractile ring [GO:0070938]; cytoplasm [GO:0005737]; midbody [GO:0030496]; nucleus [GO:0005634]; actin binding [GO:0003779]; demethylase activity [GO:0032451]; metal ion binding [GO:0046872]; oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors [GO:0016706]; actomyosin structure organization [GO:0031032]; cleavage furrow ingression [GO:0036090]; protein demethylation [GO:0006482]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9NXW9-1; Sequence=Displayed; Name=2; IsoId=Q9NXW9-2; Sequence=VSP_019128, VSP_036841; Note=May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay. No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasm. Nucleus. Midbody. Note=Associates with the contractile ring and midbody.


uniprotID: Q6P6C2
geneSymbol: ALKBH5
reactome: R-HSA-73943;
pdb: 4NJ4;4NRM;4NRO;4NRP;4NRQ;4O61;4O7X;4OCT;
length: 394
go: ENSG00000091542;
location: SUBCELLULAR LOCATION: Nucleus speckle {ECO:0000269|PubMed:21264265, ECO:0000269|PubMed:23177736}.
name:
RNA demethylase ALKBH5 (EC 1.14.11.-) (Alkylated DNA repair protein alkB homolog 5) (Alpha-ketoglutarate-dependent dioxygenase alkB homolog 5)

sequence:

opentargets:
cytosol [GO:0005829]; Golgi apparatus [GO:0005794]; nuclear speck [GO:0016607]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; metal ion binding [GO:0046872]; oxidative RNA demethylase activity [GO:0035515]; oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors [GO:0016706]; RNA binding [GO:0003723]; cell differentiation [GO:0030154]; DNA dealkylation involved in DNA repair [GO:0006307]; mRNA export from nucleus [GO:0006406]; mRNA processing [GO:0006397]; oxidative single-stranded RNA demethylation [GO:0035553]; response to hypoxia [GO:0001666]; spermatogenesis [GO:0007283]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=2; IsoId=Q6P6C2-2; Sequence=Displayed; Name=1; IsoId=Q6P6C2-1; Sequence=VSP_019130; Note=No experimental confirmation available.; Name=3; IsoId=Q6P6C2-3; Sequence=VSP_044226; 


uniprotID: Q86WK7
geneSymbol: AMIGO3
name: Amphoterin-induced protein 3 (AMIGO-3) (Alivin-3)
length: 504
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Single-pass type I membrane protein {ECO:0000305}.
sequence:

opentargets:
integral component of membrane [GO:0016021]; heterophilic cell-cell adhesion via plasma membrane cell adhesion molecules [GO:0007157]; positive regulation of synapse assembly [GO:0051965]


uniprotID: P23582
geneSymbol: NPPC
reactome: R-HSA-5578768;
pdb: 1JDP;
name: C-type natriuretic peptide [Cleaved into: CNP-22; CNP-29; CNP-53]
length: 126
go: ENSG00000163273;
snps: rs5267
location: SUBCELLULAR LOCATION: Secreted.
sequence:
MHLSQLLACALLLTLLSLRPSEAKPGAPPKVPRTPPAEELAEPQAAGGGQKKGDKAPGGGGANLKGDRSRLLRDLRVDTKSRAAWARLLQEHPNARKYKGANKKGLSKGCFGLKLDRIGSMSGLGC

opentargets:
extracellular region [GO:0005576]; extracellular space [GO:0005615]; protein-containing complex [GO:0032991]; secretory granule [GO:0030141]; hormone activity [GO:0005179]; hormone receptor binding [GO:0051427]; signaling receptor binding [GO:0005102]; cGMP biosynthetic process [GO:0006182]; cGMP-mediated signaling [GO:0019934]; growth plate cartilage chondrocyte differentiation [GO:0003418]; growth plate cartilage chondrocyte proliferation [GO:0003419]; negative regulation of cell proliferation [GO:0008285]; negative regulation of collagen biosynthetic process [GO:0032966]; negative regulation of DNA biosynthetic process [GO:2000279]; negative regulation of meiotic cell cycle [GO:0051447]; negative regulation of oocyte maturation [GO:1900194]; ossification [GO:0001503]; positive regulation of blood vessel diameter [GO:0097755]; positive regulation of cGMP-mediated signaling [GO:0010753]; positive regulation of osteoblast differentiation [GO:0045669]; post-embryonic development [GO:0009791]; protein folding [GO:0006457]; receptor guanylyl cyclase signaling pathway [GO:0007168]; regulation of cardiac conduction [GO:1903779]; regulation of multicellular organism growth [GO:0040014]; regulation of smooth muscle cell proliferation [GO:0048660]; reproductive process [GO:0022414]; response to ethanol [GO:0045471]; response to hypoxia [GO:0001666]


uniprotID: A2A2Z9
geneSymbol: ANKRD18B
name: Ankyrin repeat domain-containing protein 18B
length: 1011
go: ENSG00000230453;
sequence:


uniprotID: Q400G9
geneSymbol: AMZ1
name: Archaemetzincin-1 (EC 3.4.-.-) (Archeobacterial metalloproteinase-like protein 1)
length: 498
go: ENSG00000174945;
snps: rs7776970
sequence:

opentargets:
metallopeptidase activity [GO:0008237]; peptidase activity [GO:0008233]; zinc ion binding [GO:0008270]; proteolysis [GO:0006508]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q400G9-1; Sequence=Displayed; Name=2; IsoId=Q400G9-2; Sequence=VSP_055187, VSP_055188; Note=No experimental confirmation available.; 


uniprotID: A6NFN9
geneSymbol: ANKUB1
name: Protein ANKUB1 (Ankyrin repeat and ubiquitin domain-containing 1)
length: 502
go: ENSG00000206199;
snps: rs7645720 rs3821406 rs7610425
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=2; IsoId=A6NFN9-2; Sequence=Displayed; Name=1; IsoId=A6NFN9-1; Sequence=VSP_059614, VSP_059615; Note=No experimental confirmation available.; Name=3; IsoId=A6NFN9-3; Sequence=VSP_059616; 


uniprotID: Q15389
geneSymbol: ANGPT1
reactome: R-HSA-210993;R-HSA-5673001;
pdb: 4EPU;4JYO;4K0V;
name: Angiopoietin-1 (ANG-1)
length: 498
go: ENSG00000154188;
snps: rs73701083
location: SUBCELLULAR LOCATION: Secreted.
sequence:

opentargets:
extracellular exosome [GO:0070062]; extracellular region [GO:0005576]; extracellular space [GO:0005615]; intracellular [GO:0005622]; membrane raft [GO:0045121]; microvillus [GO:0005902]; plasma membrane [GO:0005886]; Ras guanyl-nucleotide exchange factor activity [GO:0005088]; receptor tyrosine kinase binding [GO:0030971]; activation of transmembrane receptor protein tyrosine kinase activity [GO:0007171]; cell differentiation [GO:0030154]; cell-substrate adhesion [GO:0031589]; glomerulus vasculature development [GO:0072012]; hemopoiesis [GO:0030097]; heparin biosynthetic process [GO:0030210]; in utero embryonic development [GO:0001701]; leukocyte migration [GO:0050900]; MAPK cascade [GO:0000165]; negative regulation of apoptotic process [GO:0043066]; negative regulation of cell adhesion [GO:0007162]; negative regulation of cytokine secretion involved in immune response [GO:0002740]; negative regulation of endothelial cell apoptotic process [GO:2000352]; negative regulation of neuron apoptotic process [GO:0043524]; negative regulation of protein import into nucleus [GO:0042308]; negative regulation of protein phosphorylation [GO:0001933]; negative regulation of vascular permeability [GO:0043116]; positive chemotaxis [GO:0050918]; positive regulation of blood vessel endothelial cell migration [GO:0043536]; positive regulation of cell adhesion [GO:0045785]; positive regulation of endothelial cell migration [GO:0010595]; positive regulation of ERK1 and ERK2 cascade [GO:0070374]; 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 kinase B signaling [GO:0051897]; positive regulation of protein ubiquitination [GO:0031398]; positive regulation of receptor internalization [GO:0002092]; protein localization to cell surface [GO:0034394]; regulation of I-kappaB kinase/NF-kappaB signaling [GO:0043122]; regulation of macrophage migration inhibitory factor signaling pathway [GO:2000446]; regulation of protein binding [GO:0043393]; regulation of skeletal muscle satellite cell proliferation [GO:0014842]; regulation of tumor necrosis factor production [GO:0032680]; sprouting angiogenesis [GO:0002040]; Tie signaling pathway [GO:0048014]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q15389-1; Sequence=Displayed; Name=2; Synonyms=Gly-269 del; IsoId=Q15389-2; Sequence=VSP_046324; 


uniprotID: Q9H8Y5
geneSymbol: ANKZF1
name: Ankyrin repeat and zinc finger domain-containing protein 1 (Zinc finger protein 744)
length: 726
go: ENSG00000163516;
snps: rs149382949 rs2293076 rs189875478 rs2293079
sequence:

opentargets:
Cdc48p-Npl4p-Vms1p AAA ATPase complex [GO:0036266]; cytoplasm [GO:0005737]; membrane [GO:0016020]; metal ion binding [GO:0046872]; nucleic acid binding [GO:0003676]; cellular response to hydrogen peroxide [GO:0070301]; mitochondria-associated ubiquitin-dependent protein catabolic process [GO:0072671]; nuclear protein quality control by the ubiquitin-proteasome system [GO:0071630]; ubiquitin-dependent ERAD pathway [GO:0030433]

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:28302725}. Note=Translocates to the mitochondria upon exposure to hydrogen peroxide. {ECO:0000269|PubMed:28302725}.


uniprotID: O15123
geneSymbol: ANGPT2
reactome: R-HSA-210993;
pdb: 1Z3S;1Z3U;2GY7;4JZC;4ZFG;
name: Angiopoietin-2 (ANG-2)
length: 496
go: ENSG00000091879;
snps: rs7813215
location: SUBCELLULAR LOCATION: Secreted.
sequence:

opentargets:
cell projection [GO:0042995]; extracellular region [GO:0005576]; extracellular space [GO:0005615]; nucleus [GO:0005634]; plasma membrane [GO:0005886]; metal ion binding [GO:0046872]; receptor tyrosine kinase binding [GO:0030971]; signaling receptor binding [GO:0005102]; angiogenesis [GO:0001525]; animal organ regeneration [GO:0031100]; cellular response to growth factor stimulus [GO:0071363]; germ cell development [GO:0007281]; glomerulus vasculature development [GO:0072012]; leukocyte migration [GO:0050900]; maternal process involved in female pregnancy [GO:0060135]; negative regulation of angiogenesis [GO:0016525]; negative regulation of blood vessel endothelial cell migration [GO:0043537]; negative regulation of cell-substrate adhesion [GO:0010812]; negative regulation of positive chemotaxis [GO:0050928]; positive regulation of angiogenesis [GO:0045766]; response to activity [GO:0014823]; response to glucose [GO:0009749]; response to hypoxia [GO:0001666]; response to mechanical stimulus [GO:0009612]; response to organic cyclic compound [GO:0014070]; response to radiation [GO:0009314]; signal transduction [GO:0007165]; Tie signaling pathway [GO:0048014]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=O15123-1; Sequence=Displayed; Name=3; IsoId=O15123-2; Sequence=VSP_001540; Name=2; IsoId=O15123-3; Sequence=VSP_040096; Note=No experimental confirmation available.; 


uniprotID: Q9H560
geneSymbol: ANKRD19P
length: 264
name:
Putative ankyrin repeat domain-containing protein 19 (Ankyrin repeat domain-containing protein 19 pseudogene)

sequence:


uniprotID: Q10567
geneSymbol: AP1B1
reactome: R-HSA-164940;R-HSA-2132295;R-HSA-432720;R-HSA-432722;
pdb: 4HMY;4P6Z;6CM9;6CRI;6D83;6D84;6DFF;
length: 949
snps: rs2857465
name:
AP-1 complex subunit beta-1 (Adaptor protein complex AP-1 subunit beta-1) (Adaptor-related protein complex 1 subunit beta-1) (Beta-1-adaptin) (Beta-adaptin 1) (Clathrin assembly protein complex 1 beta large chain) (Golgi adaptor HA1/AP1 adaptin beta subunit)

sequence:

opentargets:
clathrin adaptor complex [GO:0030131]; clathrin-coated vesicle membrane [GO:0030665]; cytoplasmic vesicle membrane [GO:0030659]; cytosol [GO:0005829]; Golgi apparatus [GO:0005794]; Golgi membrane [GO:0000139]; intracellular membrane-bounded organelle [GO:0043231]; lysosomal membrane [GO:0005765]; trans-Golgi network membrane [GO:0032588]; clathrin binding [GO:0030276]; protein kinase binding [GO:0019901]; transporter activity [GO:0005215]; antigen processing and presentation of exogenous peptide antigen via MHC class II [GO:0019886]; determination of left/right symmetry [GO:0007368]; heart development [GO:0007507]; intracellular protein transport [GO:0006886]; regulation of defense response to virus by virus [GO:0050690]; vesicle-mediated transport [GO:0016192]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Comment=Additional isoforms seem to exist.; Name=A; IsoId=Q10567-1; Sequence=Displayed; Name=B; IsoId=Q10567-2; Sequence=VSP_000163; Name=C; IsoId=Q10567-3; Sequence=VSP_000163, VSP_038753; Name=4; IsoId=Q10567-4; Sequence=VSP_000163, VSP_044928, VSP_038753; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Golgi apparatus. Cytoplasmic vesicle, clathrin-coated vesicle membrane; Peripheral membrane protein; Cytoplasmic side. Note=Component of the coat surrounding the cytoplasmic face of coated vesicles located at the Golgi complex.


uniprotID: O75843
geneSymbol: AP1G2
reactome: R-HSA-432720;
pdb: 2E9G;2YMT;3ZHF;4BCX;
name: AP-1 complex subunit gamma-like 2 (Gamma2-adaptin) (G2ad)
length: 785
go: ENSG00000213983;
snps: rs12897422
sequence:

opentargets:
AP-1 adaptor complex [GO:0030121]; endosome membrane [GO:0010008]; Golgi apparatus [GO:0005794]; Golgi membrane [GO:0000139]; Golgi-associated vesicle [GO:0005798]; membrane [GO:0016020]; transport vesicle [GO:0030133]; intracellular protein transport [GO:0006886]; vesicle-mediated transport [GO:0016192]; viral process [GO:0016032]

location:
SUBCELLULAR LOCATION: Golgi apparatus membrane {ECO:0000269|PubMed:11333915, ECO:0000269|PubMed:9762922}; Peripheral membrane protein; Cytoplasmic side {ECO:0000269|PubMed:11333915}. Cytoplasmic vesicle membrane {ECO:0000269|PubMed:9733768}; Peripheral membrane protein. Endosome membrane {ECO:0000269|PubMed:16867982}; Peripheral membrane protein. Note=Mainly localized to perinuclear vesicular structures (PubMed:9733768). Colocalizes with HBV major surface antigen L and HBV core protein C in CD63-containing compartments (PubMed:16867982). Colocalizes with HBV major surface antigen L to cis-Golgi-like structures (PubMed:11333915).


uniprotID: O95782
geneSymbol: AP2A1
length: 977
go: ENSG00000196961;
snps: rs17851121
reactome:
R-HSA-167590;R-HSA-177504;R-HSA-182218;R-HSA-2132295;R-HSA-3928665;R-HSA-416993;R-HSA-437239;R-HSA-5099900;R-HSA-5140745;R-HSA-8856825;R-HSA-8856828;R-HSA-8866427;R-HSA-8964038;

name:
AP-2 complex subunit alpha-1 (100 kDa coated vesicle protein A) (Adaptor protein complex AP-2 subunit alpha-1) (Adaptor-related protein complex 2 subunit alpha-1) (Alpha-adaptin A) (Alpha1-adaptin) (Clathrin assembly protein complex 2 alpha-A large chain) (Plasma membrane adaptor HA2/AP2 adaptin alpha A subunit)

sequence:

opentargets:
AP-2 adaptor complex [GO:0030122]; apical plasma membrane [GO:0016324]; basolateral plasma membrane [GO:0016323]; clathrin coat of trans-Golgi network vesicle [GO:0030130]; clathrin-coated endocytic vesicle [GO:0045334]; clathrin-coated endocytic vesicle membrane [GO:0030669]; cytosol [GO:0005829]; endocytic vesicle membrane [GO:0030666]; endolysosome membrane [GO:0036020]; filopodium tip [GO:0032433]; membrane [GO:0016020]; plasma membrane [GO:0005886]; clathrin adaptor activity [GO:0035615]; low-density lipoprotein particle receptor binding [GO:0050750]; protein C-terminus binding [GO:0008022]; protein kinase binding [GO:0019901]; protein-containing complex binding [GO:0044877]; antigen processing and presentation of exogenous peptide antigen via MHC class II [GO:0019886]; clathrin-dependent endocytosis [GO:0072583]; endocytosis [GO:0006897]; ephrin receptor signaling pathway [GO:0048013]; Golgi to endosome transport [GO:0006895]; intracellular protein transport [GO:0006886]; low-density lipoprotein particle clearance [GO:0034383]; low-density lipoprotein particle receptor catabolic process [GO:0032802]; membrane organization [GO:0061024]; negative regulation of hyaluronan biosynthetic process [GO:1900126]; positive regulation of neuron projection development [GO:0010976]; positive regulation of receptor-mediated endocytosis [GO:0048260]; regulation of defense response to virus by virus [GO:0050690]; Wnt signaling pathway, planar cell polarity pathway [GO:0060071]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=A; IsoId=O95782-1; Sequence=Displayed; Name=B; IsoId=O95782-2; Sequence=VSP_000161; 

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000250}. Membrane, coated pit {ECO:0000250}; Peripheral membrane protein {ECO:0000250}; Cytoplasmic side {ECO:0000250}. Note=AP-2 appears to be excluded from internalizing CCVs and to disengage from sites of endocytosis seconds before internalization of the nascent CCV. {ECO:0000250}.


uniprotID: Q9NUS5
geneSymbol: AP5S1
name: AP-5 complex subunit sigma-1 (Adaptor-related protein complex 5 sigma subunit) (Sigma5)
length: 200
go: ENSG00000125843;
sequence:

opentargets:
AP-type membrane coat adaptor complex [GO:0030119]; cytosol [GO:0005829]; late endosome [GO:0005770]; late endosome membrane [GO:0031902]; lysosomal membrane [GO:0005765]; lysosome [GO:0005764]; nucleoplasm [GO:0005654]; double-strand break repair via homologous recombination [GO:0000724]; endosomal transport [GO:0016197]; protein transport [GO:0015031]

location:
SUBCELLULAR LOCATION: Cytoplasm, cytosol {ECO:0000269|PubMed:22022230}. Late endosome membrane {ECO:0000305|PubMed:22022230}; Peripheral membrane protein {ECO:0000305|PubMed:22022230}; Cytoplasmic side {ECO:0000305|PubMed:22022230}. Lysosome membrane {ECO:0000305|PubMed:22022230}; Peripheral membrane protein {ECO:0000305|PubMed:22022230}; Cytoplasmic side {ECO:0000305|PubMed:22022230}.


uniprotID: Q8IXF9
geneSymbol: AQP12A
reactome: R-HSA-432047;
name: Aquaporin-12A (AQP-12)
length: 295
go: ENSG00000184945;
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Multi-pass membrane protein {ECO:0000305}.
sequence:

opentargets:
integral component of membrane [GO:0016021]; plasma membrane [GO:0005886]; water channel activity [GO:0015250]


uniprotID: A6NM10
geneSymbol: AQP12B
name: Aquaporin-12B (AQP-12B)
length: 295
go: ENSG00000185176;
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Multi-pass membrane protein {ECO:0000305}.
sequence:

opentargets:
integral component of membrane [GO:0016021]; plasma membrane [GO:0005886]; water channel activity [GO:0015250]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=A6NM10-1; Sequence=Displayed; Name=2; IsoId=A6NM10-2; Sequence=VSP_032800; Note=No experimental confirmation available.; 


uniprotID: O15234
geneSymbol: CASC3
reactome: R-HSA-109688;R-HSA-159236;R-HSA-72163;R-HSA-72187;R-HSA-9010553;R-HSA-975957;
pdb: 2HYI;2J0Q;2J0S;2J0U;2XB2;3EX7;5XJC;5YZG;
length: 703
go: ENSG00000108349;
name:
Protein CASC3 (Cancer susceptibility candidate gene 3 protein) (Metastatic lymph node gene 51 protein) (MLN 51) (Protein barentsz) (Btz)

sequence:

opentargets:
cytoplasmic stress granule [GO:0010494]; cytosol [GO:0005829]; dendrite [GO:0030425]; exon-exon junction complex [GO:0035145]; nuclear membrane [GO:0031965]; nuclear speck [GO:0016607]; nucleoplasm [GO:0005654]; perinuclear region of cytoplasm [GO:0048471]; enzyme binding [GO:0019899]; identical protein binding [GO:0042802]; RNA binding [GO:0003723]; ubiquitin protein ligase binding [GO:0031625]; intracellular mRNA localization [GO:0008298]; mRNA 3'-end processing [GO:0031124]; mRNA export from nucleus [GO:0006406]; mRNA splicing, via spliceosome [GO:0000398]; nuclear-transcribed mRNA catabolic process, nonsense-mediated decay [GO:0000184]; regulation of translation [GO:0006417]; RNA export from nucleus [GO:0006405]

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:12080473}. Cytoplasm, perinuclear region {ECO:0000250|UniProtKB:Q8K3W3}. Nucleus {ECO:0000269|PubMed:12080473}. Nucleus speckle {ECO:0000269|PubMed:16170325}. Cytoplasm, Stress granule {ECO:0000269|PubMed:17652158}. Cytoplasm, Cytoplasmic ribonucleoprotein granule {ECO:0000250|UniProtKB:Q8K3X0}. Cell projection, dendrite {ECO:0000250|UniProtKB:Q8K3X0}. Note=Shuttles between the nucleus and the cytoplasm in a XPO1/CRM1-dependent manner. Transported to the cytoplasm as part of the exon junction complex (EJC) bound to mRNA (PubMed:15166247). In nuclear speckles, colocalizes with MAGOH. Under stress conditions, colocalizes with FMR1 and TIA1, but not MAGOH and RBM8A EJC core factors, in cytoplasmic stress granules (PubMed:17652158). In the dendrites of hippocampal neurons, localizes to dendritic ribonucleoprotein granules (By similarity). {ECO:0000250|UniProtKB:Q8K3X0, ECO:0000269|PubMed:15166247, ECO:0000269|PubMed:17652158}.


uniprotID: P42575
geneSymbol: CASP2
reactome: R-HSA-168638;R-HSA-205025;R-HSA-6803207;
pdb: 1PYO;2P2C;3R5J;3R6G;3R6L;3R7B;3R7N;3R7S;3RJM;
length: 452
go: ENSG00000106144;
snps: rs4647298 rs4647297 rs4647298 rs4647338
name:
Caspase-2 (CASP-2) (EC 3.4.22.55) (Neural precursor cell expressed developmentally down-regulated protein 2) (NEDD-2) (Protease ICH-1) [Cleaved into: Caspase-2 subunit p18; Caspase-2 subunit p13; Caspase-2 subunit p12]

sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; membrane [GO:0016020]; mitochondrion [GO:0005739]; nucleus [GO:0005634]; cysteine-type endopeptidase activity [GO:0004197]; cysteine-type endopeptidase activity involved in apoptotic process [GO:0097153]; cysteine-type endopeptidase activity involved in execution phase of apoptosis [GO:0097200]; enzyme binding [GO:0019899]; identical protein binding [GO:0042802]; protein domain specific binding [GO:0019904]; aging [GO:0007568]; apoptotic process [GO:0006915]; apoptotic signaling pathway [GO:0097190]; brain development [GO:0007420]; cellular response to mechanical stimulus [GO:0071260]; DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest [GO:0006977]; ectopic germ cell programmed cell death [GO:0035234]; execution phase of apoptosis [GO:0097194]; extrinsic apoptotic signaling pathway in absence of ligand [GO:0097192]; intrinsic apoptotic signaling pathway in response to DNA damage [GO:0008630]; luteolysis [GO:0001554]; negative regulation of apoptotic process [GO:0043066]; neural retina development [GO:0003407]; positive regulation of apoptotic process [GO:0043065]; positive regulation of apoptotic signaling pathway [GO:2001235]; positive regulation of neuron apoptotic process [GO:0043525]; protein processing [GO:0016485]; regulation of apoptotic process [GO:0042981]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Comment=Isoforms differ in the N- and C-termini.; Name=1; Synonyms=ICH-1L; IsoId=P42575-1; Sequence=Displayed; Note=Acts as a positive regulator of apoptosis.; Name=2; Synonyms=ICH-1S; IsoId=P42575-2; Sequence=VSP_000801, VSP_000802; Note=Acts as a negative regulator of apoptosis.; Name=3; Synonyms=Casp-2L-Pro; IsoId=P42575-3; Sequence=VSP_046280, VSP_046281, VSP_046282; Note=May function as an endogenous apoptosis inhibitor that antagonizes caspase activation and cell death.; 


uniprotID: P25098
geneSymbol: GRK2
reactome: R-HSA-111933;R-HSA-416476;R-HSA-418555;R-HSA-5635838;R-HSA-8856825;
pdb: 1BAK;3CIK;3KRW;3KRX;3V5W;4MK0;4PNK;5HE1;5UKK;5UKL;5UUU;5UVC;5WG3;5WG4;5WG5;6C2Y;
name: Beta-adrenergic receptor kinase 1 (Beta-ARK-1) (EC 2.7.11.15) (G-protein coupled receptor kinase 2)
length: 689
go: ENSG00000173020;
drug: DB00171;
snps: rs55696045
sequence:

opentargets:
cilium [GO:0005929]; cytoplasm [GO:0005737]; cytosol [GO:0005829]; membrane [GO:0016020]; plasma membrane [GO:0005886]; alpha-2A adrenergic receptor binding [GO:0031694]; ATP binding [GO:0005524]; beta-adrenergic receptor kinase activity [GO:0047696]; Edg-2 lysophosphatidic acid receptor binding [GO:0031755]; G protein-coupled receptor kinase activity [GO:0004703]; protein kinase activity [GO:0004672]; cardiac muscle contraction [GO:0060048]; desensitization of G protein-coupled receptor signaling pathway [GO:0002029]; G protein-coupled acetylcholine receptor signaling pathway [GO:0007213]; G protein-coupled receptor signaling pathway [GO:0007186]; heart development [GO:0007507]; negative regulation of striated muscle contraction [GO:0045988]; negative regulation of the force of heart contraction by chemical signal [GO:0003108]; peptidyl-serine phosphorylation [GO:0018105]; peptidyl-threonine phosphorylation [GO:0018107]; positive regulation of catecholamine secretion [GO:0033605]; receptor internalization [GO:0031623]; tachykinin receptor signaling pathway [GO:0007217]; viral entry into host cell [GO:0046718]; viral genome replication [GO:0019079]

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250|UniProtKB:P21146}. Cell membrane {ECO:0000250|UniProtKB:P21146}.


uniprotID: Q8WZ64
geneSymbol: ARAP2
reactome: R-HSA-194840;
pdb: 1X40;2COD;
length: 1704
go: ENSG00000047365;
snps: rs35468501 rs35218548 rs4833069
location: SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250}.
name:
Arf-GAP with Rho-GAP domain, ANK repeat and PH domain-containing protein 2 (Centaurin-delta-1) (Cnt-d1) (Protein PARX)

sequence:

opentargets:
cytosol [GO:0005829]; GTPase activator activity [GO:0005096]; metal ion binding [GO:0046872]; phosphatidylinositol-3,4,5-trisphosphate binding [GO:0005547]; regulation of small GTPase mediated signal transduction [GO:0051056]; signal transduction [GO:0007165]


uniprotID: P42574
geneSymbol: CASP3
length: 277
go: ENSG00000164305;
drug: DB06862;DB08251;DB03124;DB08229;DB05408;DB07696;DB01017;
snps: rs35578277 rs1049210
location: SUBCELLULAR LOCATION: Cytoplasm.
reactome:
R-HSA-111459;R-HSA-111463;R-HSA-111464;R-HSA-111465;R-HSA-1474228;R-HSA-2028269;R-HSA-205025;R-HSA-211227;R-HSA-211736;R-HSA-264870;R-HSA-351906;R-HSA-418889;R-HSA-449836;

pdb:
1CP3;1GFW;1I3O;1NME;1NMQ;1NMS;1PAU;1QX3;1RE1;1RHJ;1RHK;1RHM;1RHQ;1RHR;1RHU;2C1E;2C2K;2C2M;2C2O;2CDR;2CJX;2CJY;2CNK;2CNL;2CNN;2CNO;2DKO;2H5I;2H5J;2H65;2J30;2J31;2J32;2J33;2XYG;2XYH;2XYP;2XZD;2XZT;2Y0B;3DEH;3DEI;3DEJ;3DEK;3EDQ;3GJQ;3GJR;3GJS;3GJT;3H0E;3ITN;3KJF;3PCX;3PD0;3PD1;4DCJ;4DCO;4DCP;4EHA;4EHD;4EHF;4EHH;4EHK;4EHL;4EHN;4JJE;4JQY;4JQZ;4JR0;4PRY;4PS0;4QTX;4QTY;4QU0;4QU5;4QU8;4QU9;4QUA;4QUB;4QUD;4QUE;4QUG;4QUH;4QUI;4QUJ;4QUL;5I9B;5I9T;5IAB;5IAE;5IAG;5IAJ;5IAK;5IAN;5IAR;5IAS;5IBC;5IBP;5IBR;5IC4;

name:
Caspase-3 (CASP-3) (EC 3.4.22.56) (Apopain) (Cysteine protease CPP32) (CPP-32) (Protein Yama) (SREBP cleavage activity 1) (SCA-1) [Cleaved into: Caspase-3 subunit p17; Caspase-3 subunit p12]

sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; death-inducing signaling complex [GO:0031264]; membrane raft [GO:0045121]; neuronal cell body [GO:0043025]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; aspartic-type endopeptidase activity [GO:0004190]; cyclin-dependent protein serine/threonine kinase inhibitor activity [GO:0004861]; cysteine-type endopeptidase activator activity involved in apoptotic process [GO:0008656]; cysteine-type endopeptidase activity [GO:0004197]; cysteine-type endopeptidase activity involved in apoptotic process [GO:0097153]; cysteine-type endopeptidase activity involved in apoptotic signaling pathway [GO:0097199]; cysteine-type endopeptidase activity involved in execution phase of apoptosis [GO:0097200]; death receptor binding [GO:0005123]; peptidase activity [GO:0008233]; phospholipase A2 activator activity [GO:0016005]; protease binding [GO:0002020]; protein-containing complex binding [GO:0044877]; apoptotic DNA fragmentation [GO:0006309]; apoptotic process [GO:0006915]; apoptotic signaling pathway [GO:0097190]; axonal fasciculation [GO:0007413]; B cell homeostasis [GO:0001782]; cell fate commitment [GO:0045165]; cellular response to DNA damage stimulus [GO:0006974]; cellular response to staurosporine [GO:0072734]; cytokine-mediated signaling pathway [GO:0019221]; erythrocyte differentiation [GO:0030218]; execution phase of apoptosis [GO:0097194]; extrinsic apoptotic signaling pathway in absence of ligand [GO:0097192]; glial cell apoptotic process [GO:0034349]; heart development [GO:0007507]; hippo signaling [GO:0035329]; hippocampus development [GO:0021766]; intrinsic apoptotic signaling pathway in response to osmotic stress [GO:0008627]; keratinocyte differentiation [GO:0030216]; learning or memory [GO:0007611]; leukocyte apoptotic process [GO:0071887]; luteolysis [GO:0001554]; negative regulation of activated T cell proliferation [GO:0046007]; negative regulation of apoptotic process [GO:0043066]; negative regulation of B cell proliferation [GO:0030889]; neuron apoptotic process [GO:0051402]; neuron differentiation [GO:0030182]; neurotrophin TRK receptor signaling pathway [GO:0048011]; platelet formation [GO:0030220]; positive regulation of neuron apoptotic process [GO:0043525]; protein processing [GO:0016485]; proteolysis [GO:0006508]; regulation of macroautophagy [GO:0016241]; response to amino acid [GO:0043200]; response to cobalt ion [GO:0032025]; response to estradiol [GO:0032355]; response to glucocorticoid [GO:0051384]; response to glucose [GO:0009749]; response to hydrogen peroxide [GO:0042542]; response to hypoxia [GO:0001666]; response to lipopolysaccharide [GO:0032496]; response to nicotine [GO:0035094]; response to tumor necrosis factor [GO:0034612]; response to UV [GO:0009411]; response to X-ray [GO:0010165]; sensory perception of sound [GO:0007605]; striated muscle cell differentiation [GO:0051146]; T cell homeostasis [GO:0043029]; wound healing [GO:0042060]


uniprotID: P49662
geneSymbol: CASP4
reactome: R-HSA-168638;
length: 377
go: ENSG00000196954;
snps: rs56226603 rs181090259 rs55901059
name:
Caspase-4 (CASP-4) (EC 3.4.22.57) (ICE and Ced-3 homolog 2) (ICH-2) (ICE(rel)-II) (Mih1) (Protease TX) [Cleaved into: Caspase-4 subunit 1; Caspase-4 subunit 2]

sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; endoplasmic reticulum [GO:0005783]; endoplasmic reticulum membrane [GO:0005789]; extracellular region [GO:0005576]; inflammasome complex [GO:0061702]; mitochondrion [GO:0005739]; plasma membrane [GO:0005886]; protein-containing complex [GO:0032991]; CARD domain binding [GO:0050700]; cysteine-type endopeptidase activity [GO:0004197]; cysteine-type endopeptidase activity involved in apoptotic signaling pathway [GO:0097199]; activation of cysteine-type endopeptidase activity involved in apoptotic process [GO:0006919]; apoptotic process [GO:0006915]; cellular response to amyloid-beta [GO:1904646]; inflammatory response [GO:0006954]; innate immune response [GO:0045087]; intrinsic apoptotic signaling pathway [GO:0097193]; intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress [GO:0070059]; positive regulation of tumor necrosis factor-mediated signaling pathway [GO:1903265]; proteolysis [GO:0006508]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=5;  Name=1; Synonyms=Alpha; IsoId=P49662-1; Sequence=Displayed; Name=2; Synonyms=Gamma, mih1-beta; IsoId=P49662-2; Sequence=VSP_043495; Name=3; Synonyms=mih1-delta; IsoId=P49662-3; Sequence=VSP_058177, VSP_058178; Note=May be due to competing acceptor splice site. May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay. {ECO:0000305}; Name=4; IsoId=P49662-4; Sequence=VSP_058181, VSP_058182; Note=No experimental confirmation available. {ECO:0000305}; Name=5; IsoId=P49662-5; Sequence=VSP_058179, VSP_058180; Note=No experimental confirmation available. {ECO:0000305}; 

location:
SUBCELLULAR LOCATION: Cytoplasm, cytosol {ECO:0000269|PubMed:23661706}. Endoplasmic reticulum membrane {ECO:0000269|PubMed:15123740, ECO:0000269|PubMed:23661706}; Peripheral membrane protein {ECO:0000269|PubMed:23661706}; Cytoplasmic side {ECO:0000269|PubMed:23661706}. Mitochondrion {ECO:0000269|PubMed:15123740, ECO:0000269|PubMed:23661706}. Inflammasome {ECO:0000269|PubMed:25119034, ECO:0000269|PubMed:26508369}. Secreted {ECO:0000269|PubMed:22246630}. Note=Predominantly localizes to the endoplasmic reticulum (ER). Association with the ER membrane requires TMEM214 (PubMed:15123740). Released in the extracellular milieu by keratinocytes following UVB irradiation (PubMed:22246630). {ECO:0000269|PubMed:15123740, ECO:0000269|PubMed:22246630}.


uniprotID: P61204
geneSymbol: ARF3
reactome: R-HSA-1660514;R-HSA-6807878;R-HSA-6811434;
name: ADP-ribosylation factor 3
length: 181
go: ENSG00000134287;
sequence:
MGNIFGNLLKSLIGKKEMRILMVGLDAAGKTTILYKLKLGEIVTTIPTIGFNVETVEYKNISFTVWDVGGQDKIRPLWRHYFQNTQGLIFVVDSNDRERVNEAREELMRMLAEDELRDAVLLVFANKQDLPNAMNAAEITDKLGLHSLRHRNWYIQATCATSGDGLYEGLDWLANQLKNKK

opentargets:
cytoplasm [GO:0005737]; extracellular exosome [GO:0070062]; Golgi apparatus [GO:0005794]; Golgi membrane [GO:0000139]; perinuclear region of cytoplasm [GO:0048471]; plasma membrane [GO:0005886]; GTP binding [GO:0005525]; GTPase activity [GO:0003924]; Golgi to plasma membrane transport [GO:0006893]; intracellular protein transport [GO:0006886]; phosphatidylinositol biosynthetic process [GO:0006661]; retrograde vesicle-mediated transport, Golgi to ER [GO:0006890]; vesicle-mediated transport [GO:0016192]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P61204-1; Sequence=Displayed; Name=2; IsoId=P61204-2; Sequence=VSP_056935; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Golgi apparatus {ECO:0000269|PubMed:17555535}. Cytoplasm, perinuclear region {ECO:0000269|PubMed:17555535}.


uniprotID: P84085
geneSymbol: ARF5
reactome: R-HSA-6807878;R-HSA-6811434;
pdb: 2B6H;
name: ADP-ribosylation factor 5
length: 180
go: ENSG00000004059;
sequence:
MGLTVSALFSRIFGKKQMRILMVGLDAAGKTTILYKLKLGEIVTTIPTIGFNVETVEYKNICFTVWDVGGQDKIRPLWRHYFQNTQGLIFVVDSNDRERVQESADELQKMLQEDELRDAVLLVFANKQDMPNAMPVSELTDKLGLQHLRSRTWYVQATCATQGTGLYDGLDWLSHELSKR

opentargets:
cytoplasm [GO:0005737]; extracellular exosome [GO:0070062]; Golgi apparatus [GO:0005794]; perinuclear region of cytoplasm [GO:0048471]; plasma membrane [GO:0005886]; GTP binding [GO:0005525]; GTPase activity [GO:0003924]; Golgi to plasma membrane transport [GO:0006893]; intracellular protein transport [GO:0006886]; retrograde vesicle-mediated transport, Golgi to ER [GO:0006890]; vesicle-mediated transport [GO:0016192]

location:
SUBCELLULAR LOCATION: Golgi apparatus {ECO:0000269|PubMed:17555535}. Cytoplasm, perinuclear region {ECO:0000269|PubMed:17555535}. Membrane {ECO:0000305}; Lipid-anchor {ECO:0000305}.


uniprotID: P62330
geneSymbol: ARF6
reactome: R-HSA-8854214;R-HSA-8856828;R-HSA-8875656;
pdb: 1E0S;2A5D;2A5F;2A5G;2BAO;2BAU;2J5X;2W83;3LVQ;3LVR;3N5C;3PCR;4FME;4KAX;6BBP;6BBQ;
name: ADP-ribosylation factor 6
length: 175
go: ENSG00000165527;
drug: DB01864;DB04315;DB08231;
sequence:
MGKVLSKIFGNKEMRILMLGLDAAGKTTILYKLKLGQSVTTIPTVGFNVETVTYKNVKFNVWDVGGQDKIRPLWRHYYTGTQGLIFVVDCADRDRIDEARQELHRIINDREMRDAIILIFANKQDLPDAMKPHEIQEKLGLTRIRDRNWYVQPSCATSGDGLYEGLTWLTSNYKS

opentargets:
cell cortex [GO:0005938]; cleavage furrow [GO:0032154]; cytoplasm [GO:0005737]; cytosol [GO:0005829]; early endosome [GO:0005769]; endocytic vesicle [GO:0030139]; endosome [GO:0005768]; extracellular exosome [GO:0070062]; filopodium membrane [GO:0031527]; Flemming body [GO:0090543]; focal adhesion [GO:0005925]; glutamatergic synapse [GO:0098978]; membrane [GO:0016020]; myelin sheath [GO:0043209]; plasma membrane [GO:0005886]; presynapse [GO:0098793]; recycling endosome membrane [GO:0055038]; ruffle [GO:0001726]; GTP binding [GO:0005525]; GTPase activity [GO:0003924]; protein N-terminus binding [GO:0047485]; thioesterase binding [GO:0031996]; cell adhesion [GO:0007155]; cell cycle [GO:0007049]; cell division [GO:0051301]; cortical actin cytoskeleton organization [GO:0030866]; endocytic recycling [GO:0032456]; establishment of epithelial cell polarity [GO:0090162]; hepatocyte apoptotic process [GO:0097284]; intracellular protein transport [GO:0006886]; liver development [GO:0001889]; maintenance of postsynaptic density structure [GO:0099562]; myeloid cell apoptotic process [GO:0033028]; negative regulation of dendrite development [GO:2000171]; negative regulation of protein localization to cell surface [GO:2000009]; negative regulation of receptor-mediated endocytosis [GO:0048261]; positive regulation of actin filament polymerization [GO:0030838]; positive regulation of adherens junction organization [GO:1903393]; positive regulation of keratinocyte migration [GO:0051549]; positive regulation of protein localization to plasma membrane [GO:1903078]; protein localization to cell surface [GO:0034394]; protein localization to endosome [GO:0036010]; regulation of dendritic spine development [GO:0060998]; regulation of filopodium assembly [GO:0051489]; regulation of presynapse assembly [GO:1905606]; regulation of Rac protein signal transduction [GO:0035020]; ruffle assembly [GO:0097178]; synaptic vesicle endocytosis [GO:0048488]; vesicle-mediated transport [GO:0016192]

location:
SUBCELLULAR LOCATION: Cytoplasm, cytosol {ECO:0000269|PubMed:16737952, ECO:0000269|PubMed:23603394, ECO:0000269|PubMed:7589240}. Cell membrane {ECO:0000269|PubMed:16737952, ECO:0000269|PubMed:17398095, ECO:0000269|PubMed:17555535}; Lipid-anchor {ECO:0000269|PubMed:7589240}. Endosome membrane {ECO:0000269|PubMed:19948740, ECO:0000269|PubMed:20682791, ECO:0000269|PubMed:21951725}; Lipid-anchor. Recycling endosome membrane {ECO:0000305}; Lipid-anchor {ECO:0000305}. Cell projection, filopodium membrane; Lipid-anchor. Cell projection, ruffle {ECO:0000269|PubMed:16737952}. Cleavage furrow {ECO:0000269|PubMed:23603394}. Midbody, Midbody ring {ECO:0000269|PubMed:23603394}. Note=Distributed uniformly on the plasma membrane, as well as throughout the cytoplasm during metaphase. Subsequently concentrated at patches in the equatorial region at the onset of cytokinesis, and becomes distributed in the equatorial region concurrent with cleavage furrow ingression. In late stages of cytokinesis, concentrates at the midbody ring/Flemming body (PubMed:23603394). Recruitement to the midbody ring requires both activation by PSD/EFA6A and interaction with KIF23/MKLP1 (By similarity). After abscission of the intercellular bridge, incorporated into one of the daughter cells as a midbody remnant and localizes to punctate structures beneath the plasma membrane (PubMed:23603394). Recruited to the cell membrane in association with CYTH2 and ARL4C. Colocalizes with DAB2IP at the plasma membrane and endocytic vesicles (By similarity). Myristoylation is required for proper localization to membranes (PubMed:7589240). {ECO:0000250, ECO:0000250|UniProtKB:P62331, ECO:0000269|PubMed:23603394, ECO:0000269|PubMed:7589240}.


uniprotID: P41180
geneSymbol: CASR
reactome: R-HSA-416476;R-HSA-418594;R-HSA-420499;
pdb: 5FBH;5FBK;5K5S;5K5T;
length: 1078
go: ENSG00000036828;
drug: DB05255;DB01012;DB12865;
name:
Extracellular calcium-sensing receptor (CaR) (CaSR) (hCasR) (Parathyroid cell calcium-sensing receptor 1) (PCaR1)

sequence:

opentargets:
apical plasma membrane [GO:0016324]; axon terminus [GO:0043679]; basolateral plasma membrane [GO:0016323]; cell surface [GO:0009986]; cytoplasm [GO:0005737]; integral component of plasma membrane [GO:0005887]; neuronal cell body [GO:0043025]; nucleus [GO:0005634]; plasma membrane [GO:0005886]; amino acid binding [GO:0016597]; calcium ion binding [GO:0005509]; drug binding [GO:0008144]; G protein-coupled receptor activity [GO:0004930]; integrin binding [GO:0005178]; ion channel binding [GO:0044325]; magnesium ion binding [GO:0000287]; phosphatidylinositol phospholipase C activity [GO:0004435]; polyamine binding [GO:0019808]; protein homodimerization activity [GO:0042803]; protein kinase binding [GO:0019901]; adenylate cyclase-inhibiting G protein-coupled receptor signaling pathway [GO:0007193]; anatomical structure morphogenesis [GO:0009653]; apoptotic process [GO:0006915]; bile acid secretion [GO:0032782]; branching morphogenesis of an epithelial tube [GO:0048754]; calcium ion import [GO:0070509]; cellular calcium ion homeostasis [GO:0006874]; cellular response to glucose stimulus [GO:0071333]; cellular response to hepatocyte growth factor stimulus [GO:0035729]; cellular response to hypoxia [GO:0071456]; cellular response to low-density lipoprotein particle stimulus [GO:0071404]; cellular response to peptide [GO:1901653]; cellular response to vitamin D [GO:0071305]; chemosensory behavior [GO:0007635]; chloride transmembrane transport [GO:1902476]; detection of calcium ion [GO:0005513]; fat pad development [GO:0060613]; G protein-coupled receptor signaling pathway [GO:0007186]; JNK cascade [GO:0007254]; ossification [GO:0001503]; phospholipase C-activating G protein-coupled receptor signaling pathway [GO:0007200]; positive regulation of ATPase activity [GO:0032781]; positive regulation of calcium ion import [GO:0090280]; positive regulation of cell proliferation [GO:0008284]; positive regulation of gene expression [GO:0010628]; positive regulation of insulin secretion [GO:0032024]; positive regulation of positive chemotaxis [GO:0050927]; positive regulation of vasoconstriction [GO:0045907]; regulation of calcium ion transport [GO:0051924]; response to fibroblast growth factor [GO:0071774]; response to ischemia [GO:0002931]; vasodilation [GO:0042311]

snps:
rs200673016 rs104893717 rs199515839 rs1064794290 rs121909262 rs104893702 rs886041154 rs121909265 rs121909266 rs1276839362 rs104893691 rs104893695 rs104893708 rs121909260 rs104893696 rs121909267 rs121909263 rs121909264 rs769256610 rs104893694 rs193922441 rs1060502855 rs121909268 rs104893689 rs104893697 rs397514728 rs397514728 rs28936684 rs28936684 rs62269092 rs121909259 rs1064794291 rs104893716 rs193922423 rs1060502861 rs104893719 rs777646067 rs104893690 rs104893690 rs104893712 rs104893698 rs104893703 rs104893700 rs773146939 rs121909261 rs753013993 rs104893718 rs104893699 rs104893701 rs886041537 rs104893711 rs121909258 rs140022350 rs104893693 rs1057518933 rs104893710 rs104893706 rs200777304 rs104893704 rs121909269 rs4987051 rs200620134 rs1801725 rs759027000 rs1042636 rs1801726 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P41180-1; Sequence=Displayed; Name=2; IsoId=P41180-2; Sequence=VSP_002035; 

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:15572418, ECO:0000269|PubMed:16740594, ECO:0000269|PubMed:17555508, ECO:0000269|PubMed:19789209, ECO:0000269|PubMed:20861236, ECO:0000269|PubMed:22114145, ECO:0000269|PubMed:22789683, ECO:0000269|PubMed:25104082, ECO:0000269|PubMed:25766501, ECO:0000269|PubMed:26386835, ECO:0000269|PubMed:8702647}; Multi-pass membrane protein {ECO:0000269|PubMed:20861236}.


uniprotID: P04040
geneSymbol: CAT
reactome: R-HSA-3299685;R-HSA-6798695;R-HSA-9033241;
pdb: 1DGB;1DGF;1DGG;1DGH;1F4J;1QQW;
name: Catalase (EC 1.11.1.6)
length: 527
go: ENSG00000121691;
drug: DB01213;
location: SUBCELLULAR LOCATION: Peroxisome.
sequence:

opentargets:
cytosol [GO:0005829]; endoplasmic reticulum [GO:0005783]; extracellular exosome [GO:0070062]; extracellular region [GO:0005576]; ficolin-1-rich granule lumen [GO:1904813]; focal adhesion [GO:0005925]; Golgi apparatus [GO:0005794]; intracellular membrane-bounded organelle [GO:0043231]; lysosome [GO:0005764]; membrane [GO:0016020]; mitochondrial intermembrane space [GO:0005758]; peroxisomal matrix [GO:0005782]; peroxisomal membrane [GO:0005778]; peroxisome [GO:0005777]; plasma membrane [GO:0005886]; secretory granule lumen [GO:0034774]; aminoacylase activity [GO:0004046]; antioxidant activity [GO:0016209]; catalase activity [GO:0004096]; enzyme binding [GO:0019899]; heme binding [GO:0020037]; identical protein binding [GO:0042802]; metal ion binding [GO:0046872]; NADP binding [GO:0050661]; oxidoreductase activity, acting on peroxide as acceptor [GO:0016684]; protein homodimerization activity [GO:0042803]; signaling receptor binding [GO:0005102]; aerobic respiration [GO:0009060]; aging [GO:0007568]; cellular response to growth factor stimulus [GO:0071363]; cellular response to oxidative stress [GO:0034599]; cholesterol metabolic process [GO:0008203]; hemoglobin metabolic process [GO:0020027]; hydrogen peroxide catabolic process [GO:0042744]; negative regulation of apoptotic process [GO:0043066]; negative regulation of NF-kappaB transcription factor activity [GO:0032088]; neutrophil degranulation [GO:0043312]; osteoblast differentiation [GO:0001649]; positive regulation of cell division [GO:0051781]; positive regulation of NF-kappaB transcription factor activity [GO:0051092]; positive regulation of phosphatidylinositol 3-kinase signaling [GO:0014068]; protein homotetramerization [GO:0051289]; protein targeting to peroxisome [GO:0006625]; protein tetramerization [GO:0051262]; response to activity [GO:0014823]; response to cadmium ion [GO:0046686]; response to estradiol [GO:0032355]; response to ethanol [GO:0045471]; response to fatty acid [GO:0070542]; response to hydrogen peroxide [GO:0042542]; response to hyperoxia [GO:0055093]; response to hypoxia [GO:0001666]; response to inactivity [GO:0014854]; response to insulin [GO:0032868]; response to L-ascorbic acid [GO:0033591]; response to lead ion [GO:0010288]; response to light intensity [GO:0009642]; response to ozone [GO:0010193]; response to phenylpropanoid [GO:0080184]; response to reactive oxygen species [GO:0000302]; response to vitamin A [GO:0033189]; response to vitamin E [GO:0033197]; triglyceride metabolic process [GO:0006641]; ureteric bud development [GO:0001657]; UV protection [GO:0009650]


uniprotID: P07858
geneSymbol: CTSB
reactome: R-HSA-1442490;R-HSA-1679131;R-HSA-2022090;R-HSA-2132295;R-HSA-6798695;
pdb: 1CSB;1GMY;1HUC;1PBH;2IPP;2PBH;3AI8;3CBJ;3CBK;3K9M;3PBH;5MBL;5MBM;6AY2;
length: 339
go: ENSG00000164733;
drug: DB02108;DB03329;DB02148;DB02685;DB03588;DB02855;DB04126;
snps: rs12338 rs1803250 rs11548596 rs17573
name:
Cathepsin B (EC 3.4.22.1) (APP secretase) (APPS) (Cathepsin B1) [Cleaved into: Cathepsin B light chain; Cathepsin B heavy chain]

sequence:

opentargets:
collagen-containing extracellular matrix [GO:0062023]; endolysosome lumen [GO:0036021]; extracellular exosome [GO:0070062]; extracellular region [GO:0005576]; extracellular space [GO:0005615]; ficolin-1-rich granule lumen [GO:1904813]; intracellular [GO:0005622]; intracellular membrane-bounded organelle [GO:0043231]; lysosome [GO:0005764]; melanosome [GO:0042470]; nucleolus [GO:0005730]; perinuclear region of cytoplasm [GO:0048471]; collagen binding [GO:0005518]; cysteine-type endopeptidase activity [GO:0004197]; cysteine-type peptidase activity [GO:0008234]; peptidase activity [GO:0008233]; proteoglycan binding [GO:0043394]; serine-type endopeptidase activity [GO:0004252]; cellular response to thyroid hormone stimulus [GO:0097067]; collagen catabolic process [GO:0030574]; decidualization [GO:0046697]; epithelial cell differentiation [GO:0030855]; neutrophil degranulation [GO:0043312]; proteolysis [GO:0006508]; proteolysis involved in cellular protein catabolic process [GO:0051603]; regulation of apoptotic process [GO:0042981]; regulation of catalytic activity [GO:0050790]; viral entry into host cell [GO:0046718]

location:
SUBCELLULAR LOCATION: Lysosome {ECO:0000269|PubMed:16733801}. Melanosome. Secreted, extracellular space {ECO:0000250}. Note=Identified by mass spectrometry in melanosome fractions from stage I to stage IV.


uniprotID: P53634
geneSymbol: CTSC
reactome: R-HSA-204005;R-HSA-2132295;R-HSA-5694530;R-HSA-6798695;
pdb: 1K3B;2DJF;2DJG;3PDF;4CDC;4CDD;4CDE;4CDF;4OEL;4OEM;
length: 463
go: ENSG00000109861;
location: SUBCELLULAR LOCATION: Lysosome.
name:
Dipeptidyl peptidase 1 (EC 3.4.14.1) (Cathepsin C) (Cathepsin J) (Dipeptidyl peptidase I) (DPP-I) (DPPI) (Dipeptidyl transferase) [Cleaved into: Dipeptidyl peptidase 1 exclusion domain chain (Dipeptidyl peptidase I exclusion domain chain); Dipeptidyl peptidase 1 heavy chain (Dipeptidyl peptidase I heavy chain); Dipeptidyl peptidase 1 light chain (Dipeptidyl peptidase I light chain)]

sequence:

opentargets:
azurophil granule lumen [GO:0035578]; centrosome [GO:0005813]; collagen-containing extracellular matrix [GO:0062023]; COPII-coated ER to Golgi transport vesicle [GO:0030134]; endoplasmic reticulum lumen [GO:0005788]; endoplasmic reticulum-Golgi intermediate compartment membrane [GO:0033116]; extracellular exosome [GO:0070062]; extracellular region [GO:0005576]; extracellular space [GO:0005615]; Golgi membrane [GO:0000139]; intracellular membrane-bounded organelle [GO:0043231]; lysosome [GO:0005764]; membrane [GO:0016020]; nucleoplasm [GO:0005654]; chaperone binding [GO:0051087]; chloride ion binding [GO:0031404]; cysteine-type endopeptidase activity [GO:0004197]; cysteine-type peptidase activity [GO:0008234]; identical protein binding [GO:0042802]; peptidase activator activity involved in apoptotic process [GO:0016505]; phosphatase binding [GO:0019902]; protein self-association [GO:0043621]; serine-type endopeptidase activity [GO:0004252]; aging [GO:0007568]; COPII vesicle coating [GO:0048208]; ER to Golgi vesicle-mediated transport [GO:0006888]; immune response [GO:0006955]; neutrophil degranulation [GO:0043312]; positive regulation of apoptotic signaling pathway [GO:2001235]; positive regulation of proteolysis involved in cellular protein catabolic process [GO:1903052]; proteolysis [GO:0006508]; proteolysis involved in cellular protein catabolic process [GO:0051603]; response to organic substance [GO:0010033]; T cell mediated cytotoxicity [GO:0001913]

snps:
rs104894210 rs104894216 rs760130711 rs749103588 rs217086 rs764724707 rs104894207 rs587777534 rs587777534 rs104894208 rs748729285 rs104894214 rs1044703733 rs104894211 rs200627023 rs151269219 rs28937571 rs104894215 rs3888798 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=P53634-1; Sequence=Displayed; Name=2; IsoId=P53634-2; Sequence=VSP_039123, VSP_039124; Name=3; IsoId=P53634-3; Sequence=VSP_043232, VSP_043233; Note=No experimental confirmation available.; 


uniprotID: P49418
geneSymbol: AMPH
reactome: R-HSA-8856828;
pdb: 1KY7;1UTC;3SOG;4ATM;5M5S;5M61;
name: Amphiphysin
length: 695
go: ENSG00000078053;
snps: rs35166354 rs17171345 rs35024632
sequence:

opentargets:
actin cytoskeleton [GO:0015629]; cell junction [GO:0030054]; cytosol [GO:0005829]; leading edge membrane [GO:0031256]; plasma membrane [GO:0005886]; synaptic vesicle [GO:0008021]; synaptic vesicle membrane [GO:0030672]; phospholipid binding [GO:0005543]; chemical synaptic transmission [GO:0007268]; endocytosis [GO:0006897]; membrane organization [GO:0061024]; synaptic vesicle endocytosis [GO:0048488]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; Synonyms=128 kDa; IsoId=P49418-1; Sequence=Displayed; Name=2; Synonyms=108 kDa; IsoId=P49418-2; Sequence=VSP_000245; 

location:
SUBCELLULAR LOCATION: Cytoplasmic vesicle, secretory vesicle, synaptic vesicle membrane; Peripheral membrane protein; Cytoplasmic side. Cytoplasm, cytoskeleton.


uniprotID: Q9C0C7
geneSymbol: AMBRA1
reactome: R-HSA-1632852;
name: Activating molecule in BECN1-regulated autophagy protein 1
length: 1298
go: ENSG00000110497;
sequence:

opentargets:
autophagosome [GO:0005776]; axoneme [GO:0005930]; cytoplasm [GO:0005737]; cytosol [GO:0005829]; mitochondrial outer membrane [GO:0005741]; mitochondrion [GO:0005739]; perinuclear region of cytoplasm [GO:0048471]; phagocytic vesicle [GO:0045335]; GTPase binding [GO:0051020]; ubiquitin protein ligase binding [GO:0031625]; autophagosome assembly [GO:0000045]; autophagy [GO:0006914]; autophagy of mitochondrion [GO:0000422]; cell differentiation [GO:0030154]; cellular response to starvation [GO:0009267]; macroautophagy [GO:0016236]; mitophagy [GO:0000423]; negative regulation of cardiac muscle cell apoptotic process [GO:0010667]; negative regulation of cell proliferation [GO:0008285]; negative regulation of neuron apoptotic process [GO:0043524]; neural tube development [GO:0021915]; positive regulation of autophagy [GO:0010508]; positive regulation of phosphatidylinositol 3-kinase activity [GO:0043552]; response to mitochondrial depolarisation [GO:0098780]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=6;  Name=1; IsoId=Q9C0C7-1; Sequence=Displayed; Name=2; IsoId=Q9C0C7-2; Sequence=VSP_030657; Name=3; IsoId=Q9C0C7-3; Sequence=VSP_030655; Name=4; IsoId=Q9C0C7-4; Sequence=VSP_030654; Name=5; IsoId=Q9C0C7-5; Sequence=VSP_030654, VSP_030656; Name=6; IsoId=Q9C0C7-6; Sequence=VSP_030654, VSP_030655, VSP_045989, VSP_045990; Note=No experimental confirmation available. {ECO:0000305}; 

location:
SUBCELLULAR LOCATION: Cytoplasmic vesicle, autophagosome {ECO:0000250}. Note=Localizes also to discrete punctae along the ciliary axoneme. {ECO:0000250}.


uniprotID: P28838
geneSymbol: LAP3
length: 519
go: ENSG00000002549;
drug: DB07448;DB02386;
location: SUBCELLULAR LOCATION: Cytoplasm.
name:
Cytosol aminopeptidase (EC 3.4.11.1) (Leucine aminopeptidase 3) (LAP-3) (Leucyl aminopeptidase) (Peptidase S) (Proline aminopeptidase) (EC 3.4.11.5) (Prolyl aminopeptidase)

sequence:

opentargets:
cytosol [GO:0005829]; extracellular exosome [GO:0070062]; focal adhesion [GO:0005925]; midbody [GO:0030496]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; trans-Golgi network [GO:0005802]; aminopeptidase activity [GO:0004177]; manganese ion binding [GO:0030145]; metalloexopeptidase activity [GO:0008235]; proteolysis [GO:0006508]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative initiation; Named isoforms=2;  Name=1; IsoId=P28838-1; Sequence=Displayed; Name=2; IsoId=P28838-2; Sequence=VSP_022631; 


uniprotID: P08758
geneSymbol: ANXA5
reactome: R-HSA-114608;
pdb: 1ANW;1ANX;1AVH;1AVR;1HAK;1HVD;1HVE;1HVF;1HVG;1SAV;2XO2;2XO3;
length: 320
go: ENSG00000164111;
drug: DB02929;DB03484;DB02497;DB02846;
name:
Annexin A5 (Anchorin CII) (Annexin V) (Annexin-5) (Calphobindin I) (CBP-I) (Endonexin II) (Lipocortin V) (Placental anticoagulant protein 4) (PP4) (Placental anticoagulant protein I) (PAP-I) (Thromboplastin inhibitor) (Vascular anticoagulant-alpha) (VAC-alpha)

sequence:

opentargets:
collagen-containing extracellular matrix [GO:0062023]; cytoplasm [GO:0005737]; cytosol [GO:0005829]; endothelial microparticle [GO:0072563]; external side of plasma membrane [GO:0009897]; extracellular exosome [GO:0070062]; extracellular region [GO:0005576]; focal adhesion [GO:0005925]; intracellular [GO:0005622]; membrane [GO:0016020]; calcium ion binding [GO:0005509]; calcium-dependent phospholipid binding [GO:0005544]; calcium-transporting ATPase activity [GO:0005388]; heparin binding [GO:0008201]; molecular adaptor activity [GO:0060090]; peptide hormone binding [GO:0017046]; phospholipase inhibitor activity [GO:0004859]; phospholipid binding [GO:0005543]; receptor tyrosine kinase binding [GO:0030971]; blood coagulation [GO:0007596]; cellular response to gonadotropin-releasing hormone [GO:0097211]; cellular response to lead ion [GO:0071284]; negative regulation of apoptotic process [GO:0043066]; negative regulation of blood coagulation [GO:0030195]; negative regulation of prolactin secretion [GO:1902721]; negative regulation of sequestering of calcium ion [GO:0051283]; platelet degranulation [GO:0002576]; positive regulation of apoptotic process [GO:0043065]; protein homooligomerization [GO:0051260]; regulation of flagellated sperm motility [GO:1901317]; response to calcium ion [GO:0051592]; response to organic substance [GO:0010033]; response to thyroid hormone [GO:0097066]; signal transduction [GO:0007165]


uniprotID: Q9Y6B7
geneSymbol: AP4B1
reactome: R-HSA-432720;R-HSA-432722;
pdb: 2MJ7;
length: 739
go: ENSG00000134262;
snps: rs1217401
name:
AP-4 complex subunit beta-1 (AP-4 adaptor complex subunit beta) (Adaptor-related protein complex 4 subunit beta-1) (Beta subunit of AP-4) (Beta4-adaptin)

sequence:

opentargets:
AP-4 adaptor complex [GO:0030124]; clathrin adaptor complex [GO:0030131]; cytosol [GO:0005829]; endosome lumen [GO:0031904]; extrinsic component of membrane [GO:0019898]; trans-Golgi network [GO:0005802]; trans-Golgi network membrane [GO:0032588]; clathrin binding [GO:0030276]; protein localization [GO:0008104]; protein targeting [GO:0006605]; vesicle-mediated transport [GO:0016192]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9Y6B7-1; Sequence=Displayed; Name=2; IsoId=Q9Y6B7-2; Sequence=VSP_055787, VSP_055788, VSP_055789; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Golgi apparatus, trans-Golgi network membrane {ECO:0000269|PubMed:10066790, ECO:0000269|PubMed:10436028, ECO:0000269|PubMed:22472443}; Peripheral membrane protein {ECO:0000269|PubMed:10066790}.


uniprotID: Q9UPM8
geneSymbol: AP4E1
reactome: R-HSA-432720;R-HSA-432722;
length: 1137
go: ENSG00000081014;
name:
AP-4 complex subunit epsilon-1 (AP-4 adaptor complex subunit epsilon) (Adaptor-related protein complex 4 subunit epsilon-1) (Epsilon subunit of AP-4) (Epsilon-adaptin)

sequence:

opentargets:
AP-4 adaptor complex [GO:0030124]; endosome lumen [GO:0031904]; trans-Golgi network membrane [GO:0032588]; protein localization [GO:0008104]; protein targeting [GO:0006605]; vesicle-mediated transport [GO:0016192]

snps:
rs147005786 rs566579877 rs200034177 rs2306331 rs148499164 rs750328226 rs145541719 rs536656846 rs372479885 rs866266998 rs148817957 rs200678853 rs760021635 rs542940704 rs142215198 rs766696884 rs865868636 rs556450190 rs779094838 rs780520338 rs141278078 rs767423538 rs550237440 rs139640763 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9UPM8-1; Sequence=Displayed; Name=2; IsoId=Q9UPM8-2; Sequence=VSP_046009; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Golgi apparatus, trans-Golgi network membrane {ECO:0000305|PubMed:10436028}; Peripheral membrane protein {ECO:0000305}.


uniprotID: Q96CW1
geneSymbol: AP2M1
pdb: 1H6E;
length: 435
go: ENSG00000161203;
reactome:
R-HSA-164939;R-HSA-167590;R-HSA-177504;R-HSA-182218;R-HSA-190873;R-HSA-196025;R-HSA-2132295;R-HSA-3928665;R-HSA-416993;R-HSA-437239;R-HSA-5099900;R-HSA-5140745;R-HSA-8856825;R-HSA-8856828;R-HSA-8866427;R-HSA-8964038;

name:
AP-2 complex subunit mu (AP-2 mu chain) (Adaptin-mu2) (Adaptor protein complex AP-2 subunit mu) (Adaptor-related protein complex 2 subunit mu) (Clathrin assembly protein complex 2 mu medium chain) (Clathrin coat assembly protein AP50) (Clathrin coat-associated protein AP50) (HA2 50 kDa subunit) (Plasma membrane adaptor AP-2 50 kDa protein)

sequence:

opentargets:
AP-2 adaptor complex [GO:0030122]; clathrin-coated endocytic vesicle [GO:0045334]; clathrin-coated endocytic vesicle membrane [GO:0030669]; cytosol [GO:0005829]; endocytic vesicle membrane [GO:0030666]; endolysosome membrane [GO:0036020]; extracellular exosome [GO:0070062]; lysosomal membrane [GO:0005765]; plasma membrane [GO:0005886]; ion channel binding [GO:0044325]; lipid binding [GO:0008289]; low-density lipoprotein particle receptor binding [GO:0050750]; signal sequence binding [GO:0005048]; transporter activity [GO:0005215]; antigen processing and presentation of exogenous peptide antigen via MHC class II [GO:0019886]; clathrin-dependent endocytosis [GO:0072583]; ephrin receptor signaling pathway [GO:0048013]; intracellular protein transport [GO:0006886]; low-density lipoprotein particle clearance [GO:0034383]; low-density lipoprotein particle receptor catabolic process [GO:0032802]; membrane organization [GO:0061024]; negative regulation of protein localization to plasma membrane [GO:1903077]; receptor internalization [GO:0031623]; regulation of defense response to virus by virus [GO:0050690]; regulation of vesicle size [GO:0097494]; vesicle budding from membrane [GO:0006900]; Wnt signaling pathway, planar cell polarity pathway [GO:0060071]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q96CW1-1; Sequence=Displayed; Name=2; IsoId=Q96CW1-2; Sequence=VSP_034599; 

location:
SUBCELLULAR LOCATION: Cell membrane. Membrane, coated pit; Peripheral membrane protein; Cytoplasmic side. Note=AP-2 appears to be excluded from internalizing CCVs and to disengage from sites of endocytosis seconds before internalization of the nascent CCV. {ECO:0000250}.


uniprotID: Q9NYG5
geneSymbol: ANAPC11
pdb: 2MT5;4R2Y;4UI9;5A31;5G04;5G05;5JG6;5KHR;5KHU;5L9T;5L9U;5LCW;
sequence: MKVKIKCWNGVATWLWVANDENCGICRMAFNGCCPDCKVPGDDCPLVWGQCSHCFHMHCILKWLHAQQVQQHCPMCRQEWKFKE
length: 84
go: ENSG00000141552;
name:
Anaphase-promoting complex subunit 11 (APC11) (Cyclosome subunit 11) (Hepatocellular carcinoma-associated RING finger protein)

opentargets:
anaphase-promoting complex [GO:0005680]; cullin-RING ubiquitin ligase complex [GO:0031461]; cytosol [GO:0005829]; nucleolus [GO:0005730]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; cullin family protein binding [GO:0097602]; metal ion binding [GO:0046872]; ubiquitin protein ligase activity [GO:0061630]; ubiquitin-ubiquitin ligase activity [GO:0034450]; anaphase-promoting complex-dependent catabolic process [GO:0031145]; cell division [GO:0051301]; mitotic cell cycle [GO:0000278]; positive regulation of mitotic metaphase/anaphase transition [GO:0045842]; protein K11-linked ubiquitination [GO:0070979]; protein ubiquitination [GO:0016567]; ubiquitin-dependent protein catabolic process [GO:0006511]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9NYG5-1; Sequence=Displayed; Name=2; IsoId=Q9NYG5-2; Sequence=VSP_012347; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:11573242}. Nucleus {ECO:0000269|PubMed:11573242}.


uniprotID: Q9UJX4
geneSymbol: ANAPC5
pdb: 4UI9;5A31;5G04;5G05;5KHR;5KHU;5L9T;5L9U;5LCW;
name: Anaphase-promoting complex subunit 5 (APC5) (Cyclosome subunit 5)
length: 755
go: ENSG00000089053;
sequence:

opentargets:
anaphase-promoting complex [GO:0005680]; cytosol [GO:0005829]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; protein phosphatase binding [GO:0019903]; ubiquitin protein ligase activity [GO:0061630]; anaphase-promoting complex-dependent catabolic process [GO:0031145]; cell cycle [GO:0007049]; cell division [GO:0051301]; positive regulation of mitotic metaphase/anaphase transition [GO:0045842]; protein K11-linked ubiquitination [GO:0070979]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q9UJX4-1; Sequence=Displayed; Name=2; IsoId=Q9UJX4-2; Sequence=VSP_008466, VSP_008467, VSP_008468, VSP_008469; Note=No experimental confirmation available.; Name=3; IsoId=Q9UJX4-3; Sequence=VSP_044878, VSP_044879; Note=No experimental confirmation available.; 


uniprotID: Q8NCL9
geneSymbol: APCDD1L
name: Protein APCDD1-like (Adenomatosis polyposis coli down-regulated 1 protein-like)
length: 501
go: ENSG00000198768;
opentargets: integral component of membrane [GO:0016021]
snps: rs3946003 rs7265854 rs7265902 rs16981999
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Single-pass membrane protein {ECO:0000305}.
sequence:


uniprotID: Q9UJX3
geneSymbol: ANAPC7
pdb: 3FFL;4UI9;5A31;5G04;5G05;5KHR;5KHU;5L9T;5L9U;5LCW;
name: Anaphase-promoting complex subunit 7 (APC7) (Cyclosome subunit 7)
length: 599
go: ENSG00000196510;
sequence:

opentargets:
anaphase-promoting complex [GO:0005680]; cytosol [GO:0005829]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; protein phosphatase binding [GO:0019903]; anaphase-promoting complex-dependent catabolic process [GO:0031145]; cell cycle [GO:0007049]; cell division [GO:0051301]; protein K11-linked ubiquitination [GO:0070979]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9UJX3-1; Sequence=Displayed; Name=2; IsoId=Q9UJX3-2; Sequence=VSP_039043; 


uniprotID: P25054
geneSymbol: APC
name: Adenomatous polyposis coli protein (Protein APC) (Deleted in polyposis 2.5)
length: 2843
go: ENSG00000134982;
reactome:
R-HSA-111465;R-HSA-195253;R-HSA-196299;R-HSA-3769402;R-HSA-4641262;R-HSA-5339716;R-HSA-5358747;R-HSA-5358749;R-HSA-5358751;R-HSA-5358752;R-HSA-5467333;R-HSA-5467337;R-HSA-5467340;R-HSA-5467348;R-HSA-5689896;

pdb:
1DEB;1EMU;1JPP;1M5I;1T08;1TH1;1V18;2RQU;3AU3;3NMW;3NMX;3NMZ;3QHE;3RL7;3RL8;3T7U;4G69;4YJE;4YJL;4YK6;5B6G;5IZ6;5IZ8;5IZ9;5IZA;

sequence:

opentargets:
adherens junction [GO:0005912]; beta-catenin destruction complex [GO:0030877]; bicellular tight junction [GO:0005923]; catenin complex [GO:0016342]; centrosome [GO:0005813]; cytoplasm [GO:0005737]; cytosol [GO:0005829]; kinetochore [GO:0000776]; lamellipodium [GO:0030027]; lateral plasma membrane [GO:0016328]; microtubule [GO:0005874]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; perinuclear region of cytoplasm [GO:0048471]; plasma membrane [GO:0005886]; ruffle membrane [GO:0032587]; Wnt signalosome [GO:1990909]; beta-catenin binding [GO:0008013]; dynein complex binding [GO:0070840]; gamma-catenin binding [GO:0045295]; identical protein binding [GO:0042802]; microtubule binding [GO:0008017]; microtubule plus-end binding [GO:0051010]; protein kinase binding [GO:0019901]; protein kinase regulator activity [GO:0019887]; ubiquitin protein ligase binding [GO:0031625]; beta-catenin destruction complex assembly [GO:1904885]; beta-catenin destruction complex disassembly [GO:1904886]; bicellular tight junction assembly [GO:0070830]; cell adhesion [GO:0007155]; cell cycle arrest [GO:0007050]; cell fate specification [GO:0001708]; cell migration [GO:0016477]; cellular response to DNA damage stimulus [GO:0006974]; insulin receptor signaling pathway [GO:0008286]; mitotic cytokinesis [GO:0000281]; mitotic spindle assembly checkpoint [GO:0007094]; negative regulation of canonical Wnt signaling pathway [GO:0090090]; negative regulation of cell proliferation [GO:0008285]; negative regulation of cyclin-dependent protein serine/threonine kinase activity [GO:0045736]; negative regulation of microtubule depolymerization [GO:0007026]; pattern specification process [GO:0007389]; positive regulation of apoptotic process [GO:0043065]; positive regulation of cell death [GO:0010942]; positive regulation of cell migration [GO:0030335]; positive regulation of cold-induced thermogenesis [GO:0120162]; positive regulation of protein catabolic process [GO:0045732]; positive regulation of protein localization to centrosome [GO:1904781]; positive regulation of pseudopodium assembly [GO:0031274]; protein deubiquitination [GO:0016579]; protein homooligomerization [GO:0051260]; protein-containing complex assembly [GO:0065003]; regulation of attachment of spindle microtubules to kinetochore [GO:0051988]; regulation of cell differentiation [GO:0045595]; regulation of microtubule-based process [GO:0032886]; Wnt signaling pathway [GO:0016055]

snps:
rs139196838 rs137854567 rs33974176 rs779998847 rs869312784 rs140493115 rs28933379 rs201830995 rs372481703 rs371113837 rs1291513037 rs770157475 rs1801155 rs863225349 rs1801166 rs137854578 rs878853445 rs2229996 rs459552 rs34157245 rs4987109 rs33941929 rs2229995 rs72541816 rs863224552 rs876658156 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative promoter usage, Alternative splicing; Named isoforms=3;  Name=1A {ECO:0000303|PubMed:19527921}; Synonyms=Long {ECO:0000303|PubMed:1678319}; IsoId=P25054-1; Sequence=Displayed; Name=2; Synonyms=Short {ECO:0000303|PubMed:1678319}; IsoId=P25054-2; Sequence=VSP_004115; Name=1B {ECO:0000303|PubMed:19527921}; IsoId=P25054-3; Sequence=VSP_059027, VSP_059028; Note=Produced by alternative promoter usage. {ECO:0000269|PubMed:19527921}; 

location:
SUBCELLULAR LOCATION: Cell junction, adherens junction {ECO:0000269|PubMed:16611247}. Cytoplasm, cytoskeleton {ECO:0000269|PubMed:19632184, ECO:0000269|PubMed:20937854}. Cell projection, lamellipodium {ECO:0000269|PubMed:19151759}. Cell projection, ruffle membrane {ECO:0000269|PubMed:19151759}. Cytoplasm {ECO:0000269|PubMed:10947987}. Cell membrane {ECO:0000269|PubMed:10947987, ECO:0000269|PubMed:16611247, ECO:0000269|PubMed:20937854}. Note=Associated with the microtubule network at the growing distal tip of microtubules (PubMed:19632184). Accumulates in the lamellipodium and ruffle membrane in response to hepatocyte growth factor (HGF) treatment (PubMed:19151759). The MEMO1-RHOA-DIAPH1 signaling pathway controls localization of the phosphorylated form to the cell membrane (PubMed:20937854). {ECO:0000269|PubMed:19151759, ECO:0000269|PubMed:19632184, ECO:0000269|PubMed:20937854}.


uniprotID: Q9ULZ1
geneSymbol: APLN
reactome: R-HSA-375276;R-HSA-418594;
name: Apelin (APJ endogenous ligand) [Cleaved into: Apelin-36; Apelin-31; Apelin-28; Apelin-13]
sequence: MNLRLCVQALLLLWLSLTAVCGGSLMPLPDGNGLEDGNVRHLVQPRGSRNGPGPWQGGRRKFRRQRPRLSHKGPMPF
length: 77
go: ENSG00000171388;
opentargets:
extracellular region [GO:0005576]; extracellular space [GO:0005615]; perinuclear region of cytoplasm [GO:0048471]; apelin receptor binding [GO:0031704]; hormone activity [GO:0005179]; protein homodimerization activity [GO:0042803]; signaling receptor binding [GO:0005102]; angiogenesis [GO:0001525]; apelin receptor signaling pathway [GO:0060183]; coronary vasculature development [GO:0060976]; drinking behavior [GO:0042756]; G protein-coupled receptor signaling pathway [GO:0007186]; gastrulation [GO:0007369]; immune response [GO:0006955]; lactation [GO:0007595]; negative regulation of blood pressure [GO:0045776]; negative regulation of fibroblast growth factor receptor signaling pathway [GO:0040037]; negative regulation of gene expression [GO:0010629]; negative regulation of vascular smooth muscle cell proliferation [GO:1904706]; negative regulation of vasoconstriction [GO:0045906]; positive regulation of corticotropin secretion [GO:0051461]; positive regulation of corticotropin-releasing hormone secretion [GO:0051466]; positive regulation of G protein-coupled receptor internalization [GO:1904022]; positive regulation of heart contraction [GO:0045823]; positive regulation of heat generation [GO:0031652]; positive regulation of phosphorylation [GO:0042327]; positive regulation of pri-miRNA transcription by RNA polymerase II [GO:1902895]; positive regulation of vascular endothelial cell proliferation [GO:1905564]; regulation of respiratory gaseous exchange [GO:0043576]; regulation of the force of heart contraction [GO:0002026]; signal transduction [GO:0007165]

location:
SUBCELLULAR LOCATION: Secreted {ECO:0000250|UniProtKB:Q9TUI9}. Secreted, extracellular space {ECO:0000250|UniProtKB:Q9TUI9}. Note=Abundantly secreted in the colostrum. Lower level in milk. Decreases rapidly within several days after parturition in milk, but is still detectable even in commercial milk. {ECO:0000250|UniProtKB:Q9TUI9}.


uniprotID: Q96BI3
geneSymbol: APH1A
pdb: 5A63;5FN2;5FN3;5FN4;5FN5;
name: Gamma-secretase subunit APH-1A (APH-1a) (Aph-1alpha) (Presenilin-stabilization factor)
length: 265
go: ENSG00000117362;
drug: DB05171;
reactome:
R-HSA-1251985;R-HSA-193692;R-HSA-205043;R-HSA-2122948;R-HSA-2644606;R-HSA-2894862;R-HSA-2979096;R-HSA-3928665;R-HSA-9013507;R-HSA-9013700;R-HSA-9017802;

sequence:

opentargets:
endoplasmic reticulum [GO:0005783]; endoplasmic reticulum membrane [GO:0005789]; gamma-secretase complex [GO:0070765]; Golgi apparatus [GO:0005794]; Golgi cisterna membrane [GO:0032580]; integral component of membrane [GO:0016021]; integral component of plasma membrane [GO:0005887]; integral component of presynaptic membrane [GO:0099056]; membrane [GO:0016020]; mitochondrion [GO:0005739]; plasma membrane [GO:0005886]; endopeptidase activity [GO:0004175]; amyloid precursor protein catabolic process [GO:0042987]; amyloid precursor protein metabolic process [GO:0042982]; amyloid-beta formation [GO:0034205]; membrane protein ectodomain proteolysis [GO:0006509]; membrane protein intracellular domain proteolysis [GO:0031293]; metanephros development [GO:0001656]; Notch receptor processing [GO:0007220]; Notch receptor processing, ligand-dependent [GO:0035333]; Notch signaling pathway [GO:0007219]; positive regulation of catalytic activity [GO:0043085]; protein processing [GO:0016485]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; Synonyms=L, Aph-alpha1; IsoId=Q96BI3-1; Sequence=Displayed; Name=2; Synonyms=S, Aph-alpha2; IsoId=Q96BI3-2; Sequence=VSP_008355, VSP_008356; Name=3; IsoId=Q96BI3-3; Sequence=VSP_045424; 

location:
SUBCELLULAR LOCATION: Endoplasmic reticulum membrane {ECO:0000269|PubMed:12522139}; Multi-pass membrane protein {ECO:0000269|PubMed:25043039, ECO:0000269|PubMed:26280335, ECO:0000269|PubMed:26623517}. Golgi apparatus, Golgi stack membrane {ECO:0000269|PubMed:12522139}; Multi-pass membrane protein {ECO:0000269|PubMed:25043039, ECO:0000269|PubMed:26280335, ECO:0000269|PubMed:26623517}. Note=Predominantly located in the endoplasmic reticulum and in the cis-Golgi. {ECO:0000269|PubMed:12522139}.


uniprotID: Q6Q788
geneSymbol: APOA5
reactome: R-HSA-1989781;R-HSA-381426;R-HSA-8957275;R-HSA-8963889;R-HSA-8963901;
name: Apolipoprotein A-V (Apo-AV) (ApoA-V) (Apolipoprotein A5) (Regeneration-associated protein 3)
length: 366
go: ENSG00000110243;
snps: rs3135506 rs34282181 rs3135507 rs2075291
location: SUBCELLULAR LOCATION: Secreted {ECO:0000269|PubMed:12810715}.
sequence:

opentargets:
chylomicron [GO:0042627]; endoplasmic reticulum lumen [GO:0005788]; extracellular region [GO:0005576]; extracellular space [GO:0005615]; high-density lipoprotein particle [GO:0034364]; very-low-density lipoprotein particle [GO:0034361]; cholesterol binding [GO:0015485]; cholesterol transporter activity [GO:0017127]; enzyme activator activity [GO:0008047]; enzyme binding [GO:0019899]; heparin binding [GO:0008201]; lipase activator activity [GO:0060229]; lipase binding [GO:0035473]; lipid binding [GO:0008289]; lipoprotein lipase activator activity [GO:0060230]; lipoprotein particle receptor binding [GO:0070325]; low-density lipoprotein particle receptor binding [GO:0050750]; phosphatidylcholine binding [GO:0031210]; phosphatidylcholine-sterol O-acyltransferase activator activity [GO:0060228]; phospholipid binding [GO:0005543]; acylglycerol homeostasis [GO:0055090]; cellular protein metabolic process [GO:0044267]; cholesterol biosynthetic process [GO:0006695]; cholesterol efflux [GO:0033344]; cholesterol homeostasis [GO:0042632]; high-density lipoprotein particle assembly [GO:0034380]; lipid transport [GO:0006869]; lipoprotein metabolic process [GO:0042157]; phosphatidylcholine metabolic process [GO:0046470]; phospholipid efflux [GO:0033700]; positive regulation of cholesterol esterification [GO:0010873]; positive regulation of fatty acid biosynthetic process [GO:0045723]; positive regulation of lipid biosynthetic process [GO:0046889]; positive regulation of lipid catabolic process [GO:0050996]; positive regulation of lipoprotein lipase activity [GO:0051006]; positive regulation of receptor-mediated endocytosis [GO:0048260]; positive regulation of triglyceride catabolic process [GO:0010898]; positive regulation of very-low-density lipoprotein particle remodeling [GO:0010902]; post-translational protein modification [GO:0043687]; regulation of cholesterol transport [GO:0032374]; regulation of intestinal cholesterol absorption [GO:0030300]; regulation of lipid metabolic process [GO:0019216]; reverse cholesterol transport [GO:0043691]; tissue regeneration [GO:0042246]; triglyceride catabolic process [GO:0019433]; triglyceride homeostasis [GO:0070328]; triglyceride metabolic process [GO:0006641]; very-low-density lipoprotein particle remodeling [GO:0034372]


uniprotID: Q0VD83
geneSymbol: APOBR
reactome: R-HSA-8964046;
length: 1088
go: ENSG00000184730;
snps: rs180743
name:
Apolipoprotein B receptor (Apolipoprotein B-100 receptor) (Apolipoprotein B-48 receptor) (Apolipoprotein B48 receptor) (apoB-48R)

sequence:

opentargets:
chylomicron [GO:0042627]; low-density lipoprotein particle [GO:0034362]; membrane [GO:0016020]; plasma membrane [GO:0005886]; very-low-density lipoprotein particle [GO:0034361]; very-low-density lipoprotein particle receptor activity [GO:0030229]; cholesterol metabolic process [GO:0008203]; lipid transport [GO:0006869]; triglyceride metabolic process [GO:0006641]; very-low-density lipoprotein particle clearance [GO:0034447]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=Q0VD83-1; Sequence=Displayed; Name=2; IsoId=Q0VD83-2; Sequence=VSP_032733; Note=No experimental confirmation available.; Name=3; IsoId=Q0VD83-3; Sequence=VSP_032734; Note=No experimental confirmation available.; Name=4; IsoId=Q0VD83-4; Sequence=VSP_047051; Note=Gene prediction based on EST data.; 

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:10191299, ECO:0000269|PubMed:7619811}; Peripheral membrane protein {ECO:0000269|PubMed:10191299, ECO:0000269|PubMed:7619811}. Note=Binds monocyte-macrophage membrane. Thought to be anchored in the membrane through an interaction with an integral membrane protein.


uniprotID: P04114
geneSymbol: APOB
name: Apolipoprotein B-100 (Apo B-100) [Cleaved into: Apolipoprotein B-48 (Apo B-48)]
length: 4563
reactome:
R-HSA-202733;R-HSA-3000471;R-HSA-3000480;R-HSA-3000484;R-HSA-3000497;R-HSA-381426;R-HSA-432142;R-HSA-5686938;R-HSA-8856825;R-HSA-8856828;R-HSA-8866423;R-HSA-8957275;R-HSA-8963888;R-HSA-8963901;R-HSA-8964026;R-HSA-8964038;R-HSA-8964041;R-HSA-8964046;R-HSA-975634;

sequence:

opentargets:
chylomicron [GO:0042627]; chylomicron remnant [GO:0034360]; clathrin-coated endocytic vesicle membrane [GO:0030669]; cytoplasm [GO:0005737]; cytosol [GO:0005829]; early endosome [GO:0005769]; endocytic vesicle lumen [GO:0071682]; endoplasmic reticulum exit site [GO:0070971]; endoplasmic reticulum lumen [GO:0005788]; endoplasmic reticulum membrane [GO:0005789]; endosome lumen [GO:0031904]; endosome membrane [GO:0010008]; extracellular exosome [GO:0070062]; extracellular region [GO:0005576]; extracellular space [GO:0005615]; intermediate-density lipoprotein particle [GO:0034363]; intracellular membrane-bounded organelle [GO:0043231]; low-density lipoprotein particle [GO:0034362]; lysosomal lumen [GO:0043202]; mature chylomicron [GO:0034359]; neuronal cell body [GO:0043025]; plasma membrane [GO:0005886]; smooth endoplasmic reticulum [GO:0005790]; very-low-density lipoprotein particle [GO:0034361]; cholesterol transporter activity [GO:0017127]; heparin binding [GO:0008201]; lipase binding [GO:0035473]; low-density lipoprotein particle receptor binding [GO:0050750]; phospholipid binding [GO:0005543]; artery morphogenesis [GO:0048844]; cellular protein metabolic process [GO:0044267]; cellular response to prostaglandin stimulus [GO:0071379]; cellular response to tumor necrosis factor [GO:0071356]; cholesterol efflux [GO:0033344]; cholesterol homeostasis [GO:0042632]; cholesterol metabolic process [GO:0008203]; cholesterol transport [GO:0030301]; chylomicron assembly [GO:0034378]; chylomicron remnant clearance [GO:0034382]; chylomicron remodeling [GO:0034371]; fertilization [GO:0009566]; flagellated sperm motility [GO:0030317]; in utero embryonic development [GO:0001701]; leukocyte migration [GO:0050900]; lipoprotein biosynthetic process [GO:0042158]; lipoprotein catabolic process [GO:0042159]; lipoprotein transport [GO:0042953]; low-density lipoprotein particle clearance [GO:0034383]; low-density lipoprotein particle remodeling [GO:0034374]; membrane organization [GO:0061024]; nervous system development [GO:0007399]; positive regulation of cholesterol storage [GO:0010886]; positive regulation of gene expression [GO:0010628]; positive regulation of lipid storage [GO:0010884]; positive regulation of macrophage derived foam cell differentiation [GO:0010744]; post-embryonic development [GO:0009791]; post-translational protein modification [GO:0043687]; receptor-mediated endocytosis [GO:0006898]; regulation of cholesterol biosynthetic process [GO:0045540]; response to carbohydrate [GO:0009743]; response to estradiol [GO:0032355]; response to lipopolysaccharide [GO:0032496]; response to selenium ion [GO:0010269]; response to virus [GO:0009615]; retinoid metabolic process [GO:0001523]; spermatogenesis [GO:0007283]; toll-like receptor signaling pathway [GO:0002224]; triglyceride catabolic process [GO:0019433]; triglyceride mobilization [GO:0006642]; very-low-density lipoprotein particle assembly [GO:0034379]; very-low-density lipoprotein particle clearance [GO:0034447]

snps:
rs1367117 rs9282603 rs6752026 rs13306198 rs61741625 rs12714225 rs12714214 rs679899 rs12691202 rs1800476 rs12714192 rs12714097 rs13306206 rs12720801 rs12713844 rs12713843 rs1041956 rs13306187 rs568413 rs1801697 rs1801699 rs533617 rs1041960 rs12713681 rs584542 rs1041971 rs12713675 rs1801696 rs1042013 rs676210 rs2163204 rs1801694 rs12720848 rs12720854 rs12720855 rs1042023 rs5742904 rs12713559 rs1801701 rs1042025 rs12713540 rs72654409 rs1801698 rs1042027 rs1126468 rs1801703 rs1042031 rs1801702 rs72654423 rs1042034 rs12720843 rs1801695 rs12713450 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:22580899}. Secreted {ECO:0000269|PubMed:22580899, ECO:0000269|PubMed:26224785}.


uniprotID: P02654
geneSymbol: APOC1
reactome: R-HSA-8866423;R-HSA-8964046;
pdb: 1ALE;1ALF;1IOJ;1OPP;
sequence: MRLFLSLPVLVVVLSIVLEGPAPAQGTPDVSSALDKLKEFGNTLEDKARELISRIKQSELSAKMREWFSETFQKVKEKLKIDS
length: 83
go: ENSG00000130208;
snps: rs5112 rs142372275
location: SUBCELLULAR LOCATION: Secreted {ECO:0000303|PubMed:2835369}.
name:
Apolipoprotein C-I (Apo-CI) (ApoC-I) (Apolipoprotein C1) [Cleaved into: Truncated apolipoprotein C-I]

opentargets:
chylomicron [GO:0042627]; endoplasmic reticulum [GO:0005783]; extracellular region [GO:0005576]; high-density lipoprotein particle [GO:0034364]; very-low-density lipoprotein particle [GO:0034361]; fatty acid binding [GO:0005504]; lipase inhibitor activity [GO:0055102]; phosphatidylcholine binding [GO:0031210]; phosphatidylcholine-sterol O-acyltransferase activator activity [GO:0060228]; phospholipase inhibitor activity [GO:0004859]; cholesterol efflux [GO:0033344]; cholesterol metabolic process [GO:0008203]; chylomicron remnant clearance [GO:0034382]; high-density lipoprotein particle remodeling [GO:0034375]; lipid metabolic process [GO:0006629]; lipoprotein metabolic process [GO:0042157]; negative regulation of cholesterol transport [GO:0032375]; negative regulation of fatty acid biosynthetic process [GO:0045717]; negative regulation of lipid catabolic process [GO:0050995]; negative regulation of lipid metabolic process [GO:0045833]; negative regulation of lipoprotein lipase activity [GO:0051005]; negative regulation of phosphatidylcholine catabolic process [GO:0010900]; negative regulation of receptor-mediated endocytosis [GO:0048261]; negative regulation of very-low-density lipoprotein particle clearance [GO:0010916]; phospholipid efflux [GO:0033700]; plasma lipoprotein particle remodeling [GO:0034369]; positive regulation of cholesterol esterification [GO:0010873]; regulation of cholesterol transport [GO:0032374]; triglyceride metabolic process [GO:0006641]; very-low-density lipoprotein particle assembly [GO:0034379]; very-low-density lipoprotein particle clearance [GO:0034447]


uniprotID: P55056
geneSymbol: APOC4
reactome: R-HSA-8866423;R-HSA-8964046;
name: Apolipoprotein C-IV (Apo-CIV) (ApoC-IV) (Apolipoprotein C4)
length: 127
go: ENSG00000224916;ENSG00000267467;
snps: rs1132899 rs12691089 rs5167 rs5168
location: SUBCELLULAR LOCATION: Secreted.
sequence:
MSLLRNRLQALPALCLCVLVLACIGACQPEAQEGTLSPPPKLKMSRWSLVRGRMKELLETVVNRTRDGWQWFWSPSTFRGFMQTYYDDHLRDLGPLTKAWFLESKDSLLKKTHSLCPRLVCGDKDQG

opentargets:
extracellular region [GO:0005576]; high-density lipoprotein particle [GO:0034364]; very-low-density lipoprotein particle [GO:0034361]; lipid transporter activity [GO:0005319]; lipid metabolic process [GO:0006629]; positive regulation of sequestering of triglyceride [GO:0010890]; triglyceride homeostasis [GO:0070328]; very-low-density lipoprotein particle assembly [GO:0034379]; very-low-density lipoprotein particle clearance [GO:0034447]


uniprotID: P05090
geneSymbol: APOD
reactome: R-HSA-804914;
pdb: 2APD;2HZQ;2HZR;
name: Apolipoprotein D (Apo-D) (ApoD)
length: 189
go: ENSG00000189058;
snps: rs5952 rs5954 rs5955
location: SUBCELLULAR LOCATION: Secreted.
sequence:
MVMLLLLLSALAGLFGAAEGQAFHLGKCPNPPVQENFDVNKYLGRWYEIEKIPTTFENGRCIQANYSLMENGKIKVLNQELRADGTVNQIEGEATPVNLTEPAKLEVKFSWFMPSAPYWILATDYENYALVYSCTCIIQLFHVDFAWILARNPNLPPETVDSLKNILTSNNIDVKKMTVTDQVNCPKLS

opentargets:
cytosolic ribosome [GO:0022626]; dendrite [GO:0030425]; endoplasmic reticulum [GO:0005783]; extracellular exosome [GO:0070062]; extracellular region [GO:0005576]; extracellular space [GO:0005615]; neuronal cell body [GO:0043025]; perinuclear region of cytoplasm [GO:0048471]; cholesterol binding [GO:0015485]; lipid transporter activity [GO:0005319]; aging [GO:0007568]; angiogenesis [GO:0001525]; brain development [GO:0007420]; glucose metabolic process [GO:0006006]; lipid metabolic process [GO:0006629]; negative regulation of cytokine production involved in inflammatory response [GO:1900016]; negative regulation of focal adhesion assembly [GO:0051895]; negative regulation of lipoprotein lipid oxidation [GO:0060588]; negative regulation of monocyte chemotactic protein-1 production [GO:0071638]; negative regulation of platelet-derived growth factor receptor signaling pathway [GO:0010642]; negative regulation of protein import into nucleus [GO:0042308]; negative regulation of smooth muscle cell proliferation [GO:0048662]; negative regulation of smooth muscle cell-matrix adhesion [GO:2000098]; negative regulation of T cell migration [GO:2000405]; peripheral nervous system axon regeneration [GO:0014012]; response to axon injury [GO:0048678]; response to drug [GO:0042493]; response to reactive oxygen species [GO:0000302]; tissue regeneration [GO:0042246]


uniprotID: Q9Y2G2
geneSymbol: CARD8
pdb: 4IKM;
length: 431
go: ENSG00000105483;
snps: rs11881179 rs59878320
name:
Caspase recruitment domain-containing protein 8 (Apoptotic protein NDPP1) (CARD-inhibitor of NF-kappa-B-activating ligand) (CARDINAL) (DACAR) (Tumor up-regulated CARD-containing antagonist of CASP9) (TUCAN)

sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; inflammasome complex [GO:0061702]; NLRP3 inflammasome complex [GO:0072559]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; protein-containing complex [GO:0032991]; CARD domain binding [GO:0050700]; cysteine-type endopeptidase activator activity involved in apoptotic process [GO:0008656]; NACHT domain binding [GO:0032089]; protein homodimerization activity [GO:0042803]; activation of cysteine-type endopeptidase activity involved in apoptotic process [GO:0006919]; inhibition of cysteine-type endopeptidase activity [GO:0097340]; negative regulation of I-kappaB kinase/NF-kappaB signaling [GO:0043124]; negative regulation of interleukin-1 beta secretion [GO:0050713]; negative regulation of lipopolysaccharide-mediated signaling pathway [GO:0031665]; negative regulation of NF-kappaB transcription factor activity [GO:0032088]; negative regulation of tumor necrosis factor-mediated signaling pathway [GO:0010804]; positive regulation of cysteine-type endopeptidase activity involved in apoptotic process [GO:0043280]; positive regulation of interleukin-1 beta secretion [GO:0050718]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=5;  Name=1; Synonyms=Long; IsoId=Q9Y2G2-1; Sequence=Displayed; Name=2; Synonyms=Short; IsoId=Q9Y2G2-2; Sequence=VSP_000782, VSP_000783; Name=3; IsoId=Q9Y2G2-3; Sequence=VSP_012770, VSP_012771, VSP_000782, VSP_000783; Name=4; IsoId=Q9Y2G2-4; Sequence=VSP_045253, VSP_012771; Note=No experimental confirmation available.; Name=5; Synonyms=T60; IsoId=Q9Y2G2-5; Sequence=VSP_012770, VSP_012771; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:15030775}. Nucleus {ECO:0000269|PubMed:15030775}.


uniprotID: Q9NP73
geneSymbol: ALG13
reactome: R-HSA-446193;R-HSA-5633231;
length: 1137
go: ENSG00000101901;
snps: rs867599353 rs398122394
name:
Putative bifunctional UDP-N-acetylglucosamine transferase and deubiquitinase ALG13 (EC 2.4.1.141) (EC 3.4.19.12) (Asparagine-linked glycosylation 13 homolog) (Glycosyltransferase 28 domain-containing protein 1) (UDP-N-acetylglucosamine transferase subunit ALG13 homolog)

sequence:

opentargets:
endoplasmic reticulum membrane [GO:0005789]; N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase activity [GO:0004577]; RNA binding [GO:0003723]; thiol-dependent ubiquitinyl hydrolase activity [GO:0036459]; dolichol-linked oligosaccharide biosynthetic process [GO:0006488]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=Q9NP73-1; Sequence=Displayed; Name=2; IsoId=Q9NP73-2; Sequence=VSP_039301, VSP_039302; Name=3; IsoId=Q9NP73-3; Sequence=VSP_039299, VSP_039300; Note=No experimental confirmation available.; Name=4; IsoId=Q9NP73-4; Sequence=VSP_039298, VSP_039303; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Isoform 2: Endoplasmic reticulum {ECO:0000305}. Note=Could be recruited to the cytosolic face of the endoplasmic reticulum membrane through its interaction with ALG14.


uniprotID: O75891
geneSymbol: ALDH1L1
reactome: R-HSA-196757;
pdb: 2BW0;2CFI;2CQ8;
length: 902
go: ENSG00000144908;
drug: DB00116;
location: SUBCELLULAR LOCATION: Cytoplasm.
name:
Cytosolic 10-formyltetrahydrofolate dehydrogenase (10-FTHFDH) (FDH) (EC 1.5.1.6) (Aldehyde dehydrogenase family 1 member L1)

sequence:

opentargets:
cytosol [GO:0005829]; extracellular exosome [GO:0070062]; aldehyde dehydrogenase (NAD) activity [GO:0004029]; catalytic activity [GO:0003824]; formyltetrahydrofolate dehydrogenase activity [GO:0016155]; hydroxymethyl-, formyl- and related transferase activity [GO:0016742]; 10-formyltetrahydrofolate catabolic process [GO:0009258]; biosynthetic process [GO:0009058]; folic acid metabolic process [GO:0046655]; one-carbon metabolic process [GO:0006730]

snps:
rs3796191 rs2886059 rs9282691 rs9282692 rs9282697 rs2276724 rs768309358 rs1127717 rs9282689 rs4646750 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=O75891-1; Sequence=Displayed; Name=2; IsoId=O75891-2; Sequence=VSP_045569; Note=No experimental confirmation available.; Name=3; IsoId=O75891-3; Sequence=VSP_047260; Name=4; IsoId=O75891-4; Sequence=VSP_057429, VSP_057430; Note=No experimental confirmation available.; 


uniprotID: Q8N944
geneSymbol: AMER3
name: APC membrane recruitment protein 3 (Amer3) (Protein FAM123C)
length: 861
go: ENSG00000178171;
snps: rs1905235
sequence:

opentargets:
plasma membrane [GO:0005886]; beta-catenin binding [GO:0008013]; phosphatidylinositol-4,5-bisphosphate binding [GO:0005546]; regulation of canonical Wnt signaling pathway [GO:0060828]; Wnt signaling pathway [GO:0016055]

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000250}; Peripheral membrane protein {ECO:0000250}. Note=Translocates to the cell membrane following binding to PtdIns(4,5)P2. {ECO:0000250}.


uniprotID: Q9H4A4
geneSymbol: RNPEP
name: Aminopeptidase B (AP-B) (EC 3.4.11.6) (Arginine aminopeptidase) (Arginyl aminopeptidase)
length: 650
go: ENSG00000176393;
snps: rs3820439
location: SUBCELLULAR LOCATION: Secreted {ECO:0000250}.
sequence:

opentargets:
extracellular exosome [GO:0070062]; extracellular region [GO:0005576]; plasma membrane [GO:0005886]; secretory granule [GO:0030141]; aminopeptidase activity [GO:0004177]; epoxide hydrolase activity [GO:0004301]; metalloexopeptidase activity [GO:0008235]; zinc ion binding [GO:0008270]; negative regulation of blood pressure [GO:0045776]; proteolysis [GO:0006508]


uniprotID: Q5VTE6
geneSymbol: ANGEL2
name: Protein angel homolog 2
length: 544
go: ENSG00000174606;
snps: rs11542154
sequence:

opentargets:
Cajal body [GO:0015030]; cytoplasm [GO:0005737]; mRNA 3'-UTR binding [GO:0003730]; 3'-UTR-mediated mRNA stabilization [GO:0070935]; negative regulation of mitotic cell cycle [GO:0045930]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q5VTE6-1; Sequence=Displayed; Name=2; IsoId=Q5VTE6-2; Sequence=VSP_028216; 


uniprotID: P0C6C1
geneSymbol: ANKRD34C
name: Ankyrin repeat domain-containing protein 34C
length: 535
go: ENSG00000235711;
snps: rs410400 rs449340 rs422777
sequence:


uniprotID: Q86XL3
geneSymbol: ANKLE2
reactome: R-HSA-2995383;
name: Ankyrin repeat and LEM domain-containing protein 2 (LEM domain-containing protein 4)
length: 938
go: ENSG00000176915;
snps: rs1132375 rs7968520 rs863225465 rs10781634
sequence:

opentargets:
endoplasmic reticulum [GO:0005783]; endoplasmic reticulum membrane [GO:0005789]; integral component of endoplasmic reticulum membrane [GO:0030176]; membrane [GO:0016020]; protein phosphatase 2A binding [GO:0051721]; protein phosphatase regulator activity [GO:0019888]; cell division [GO:0051301]; central nervous system development [GO:0007417]; mitotic nuclear envelope reassembly [GO:0007084]; negative regulation of apoptotic process [GO:0043066]; negative regulation of phosphorylation [GO:0042326]; positive regulation of protein dephosphorylation [GO:0035307]; regulation of catalytic activity [GO:0050790]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q86XL3-1; Sequence=Displayed; Name=2; IsoId=Q86XL3-2; Sequence=VSP_023574, VSP_023575; Note=No experimental confirmation available.; Name=3; IsoId=Q86XL3-3; Sequence=VSP_044173; 

location:
SUBCELLULAR LOCATION: Endoplasmic reticulum membrane {ECO:0000269|PubMed:22770216}; Single-pass type III membrane protein {ECO:0000269|PubMed:22770216}.


uniprotID: Q12955
geneSymbol: ANK3
reactome: R-HSA-445095;R-HSA-6807878;
pdb: 4O6X;
name: Ankyrin-3 (ANK-3) (Ankyrin-G)
length: 4377
go: ENSG00000151150;
sequence:

opentargets:
axon initial segment [GO:0043194]; basal plasma membrane [GO:0009925]; basolateral plasma membrane [GO:0016323]; cell surface [GO:0009986]; costamere [GO:0043034]; cytosol [GO:0005829]; dendrite [GO:0030425]; endoplasmic reticulum [GO:0005783]; Golgi apparatus [GO:0005794]; intercalated disc [GO:0014704]; lateral plasma membrane [GO:0016328]; lysosome [GO:0005764]; membrane [GO:0016020]; neuromuscular junction [GO:0031594]; neuron projection [GO:0043005]; node of Ranvier [GO:0033268]; plasma membrane [GO:0005886]; postsynaptic membrane [GO:0045211]; sarcolemma [GO:0042383]; sarcoplasmic reticulum [GO:0016529]; spectrin-associated cytoskeleton [GO:0014731]; T-tubule [GO:0030315]; Z disc [GO:0030018]; cadherin binding [GO:0045296]; cytoskeletal protein binding [GO:0008092]; ion channel binding [GO:0044325]; protein binding, bridging [GO:0030674]; spectrin binding [GO:0030507]; structural constituent of cytoskeleton [GO:0005200]; axonogenesis [GO:0007409]; cellular response to magnesium ion [GO:0071286]; cytoskeletal anchoring at plasma membrane [GO:0007016]; ER to Golgi vesicle-mediated transport [GO:0006888]; establishment of protein localization [GO:0045184]; Golgi to plasma membrane protein transport [GO:0043001]; magnesium ion homeostasis [GO:0010960]; maintenance of protein location in plasma membrane [GO:0072660]; membrane assembly [GO:0071709]; mitotic cytokinesis [GO:0000281]; negative regulation of delayed rectifier potassium channel activity [GO:1902260]; neuromuscular junction development [GO:0007528]; neuronal action potential [GO:0019228]; plasma membrane organization [GO:0007009]; positive regulation of cation channel activity [GO:2001259]; positive regulation of cell communication by electrical coupling [GO:0010650]; positive regulation of gene expression [GO:0010628]; positive regulation of homotypic cell-cell adhesion [GO:0034112]; positive regulation of membrane depolarization during cardiac muscle cell action potential [GO:1900827]; positive regulation of membrane potential [GO:0045838]; positive regulation of protein targeting to membrane [GO:0090314]; positive regulation of sodium ion transmembrane transporter activity [GO:2000651]; positive regulation of sodium ion transport [GO:0010765]; protein localization to plasma membrane [GO:0072659]; regulation of potassium ion transport [GO:0043266]; signal transduction [GO:0007165]

snps:
rs730882195 rs375050420 rs59021407 rs11599164 rs41274672 rs28932171 rs10821668 rs201547988 rs769573528 rs12261793 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=5;  Name=1; IsoId=Q12955-3; Sequence=Displayed; Name=2; IsoId=Q12955-4; Sequence=VSP_044349, VSP_044350, VSP_044351, VSP_044352, VSP_044353, VSP_044354; Name=3; IsoId=Q12955-5; Sequence=VSP_044348, VSP_044351, VSP_044352, VSP_044353, VSP_044354; Name=4; IsoId=Q12955-6; Sequence=VSP_046885, VSP_046886, VSP_044351, VSP_044352, VSP_044353, VSP_044354; Note=Ref.3 (CAB66645) sequence(s) differ(s) from that shown due to (a) frameshift(s) in position(s) 810. {ECO:0000244|PubMed:24275569}; Name=5; Synonyms=AnkG119, Golgi ankyrin; IsoId=Q12955-7; Sequence=VSP_053753, VSP_053754, VSP_053755, VSP_053756, VSP_053757, VSP_044351, VSP_053758, VSP_053759; Note=Avidly binds beta spectrin. {ECO:0000244|PubMed:24275569}; 

location:
SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton {ECO:0000269|PubMed:21223964}. Cell projection, axon {ECO:0000250}. Cell membrane, sarcolemma {ECO:0000269|PubMed:21223964}. Cell junction, synapse, postsynaptic cell membrane {ECO:0000250}. Lysosome {ECO:0000250}. Note=In skeletal muscle, localized at costameres and neuromuscular junctions. In macrophages, associated with lysosomes. {ECO:0000250}.; SUBCELLULAR LOCATION: Isoform 5: Cytoplasm, cytoskeleton {ECO:0000269|PubMed:8666667}. Golgi apparatus {ECO:0000269|PubMed:8666667}.


uniprotID: Q8IWZ3
geneSymbol: ANKHD1
length: 2542
go: ENSG00000131503;
opentargets: cytoplasm [GO:0005737]; RNA binding [GO:0003723]; innate immune response [GO:0045087]
snps: rs17850570 rs17850572 rs1051309 rs3752704
location: SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:16098192, ECO:0000269|PubMed:16956752}.
name:
Ankyrin repeat and KH domain-containing protein 1 (HIV-1 Vpr-binding ankyrin repeat protein) (Multiple ankyrin repeats single KH domain) (hMASK)

sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=6;  Name=1; IsoId=Q8IWZ3-1; Sequence=Displayed; Name=2; Synonyms=VBARP-L; IsoId=Q8IWZ3-2; Sequence=VSP_028455, VSP_028456; Name=3; IsoId=Q8IWZ3-3; Sequence=VSP_028452, VSP_028455, VSP_028456; Name=4; IsoId=Q8IWZ3-4; Sequence=VSP_028457, VSP_028458; Name=5; IsoId=Q8IWZ3-5; Sequence=VSP_028453, VSP_028454; Name=6; IsoId=Q8IWZ3-6; Sequence=VSP_044231; 


uniprotID: P16066
geneSymbol: NPR1
reactome: R-HSA-5578768;
length: 1061
go: ENSG00000169418;
drug: DB01612;DB01613;DB00883;DB04899;DB00727;DB00325;DB05034;
snps: rs56019647 rs55837780 rs35240348 rs35479618
location: SUBCELLULAR LOCATION: Membrane; Single-pass type I membrane protein.
name:
Atrial natriuretic peptide receptor 1 (EC 4.6.1.2) (Atrial natriuretic peptide receptor type A) (ANP-A) (ANPR-A) (NPR-A) (Guanylate cyclase A) (GC-A)

sequence:

opentargets:
integral component of membrane [GO:0016021]; intracellular [GO:0005622]; plasma membrane [GO:0005886]; receptor complex [GO:0043235]; ATP binding [GO:0005524]; G protein-coupled peptide receptor activity [GO:0008528]; GTP binding [GO:0005525]; guanylate cyclase activity [GO:0004383]; hormone binding [GO:0042562]; natriuretic peptide receptor activity [GO:0016941]; peptide hormone binding [GO:0017046]; peptide receptor activity [GO:0001653]; protein kinase activity [GO:0004672]; protein kinase binding [GO:0019901]; body fluid secretion [GO:0007589]; cell surface receptor signaling pathway [GO:0007166]; cGMP biosynthetic process [GO:0006182]; cGMP-mediated signaling [GO:0019934]; dopamine metabolic process [GO:0042417]; negative regulation of angiogenesis [GO:0016525]; negative regulation of cell growth [GO:0030308]; negative regulation of smooth muscle cell proliferation [GO:0048662]; positive regulation of cGMP-mediated signaling [GO:0010753]; positive regulation of renal sodium excretion [GO:0035815]; positive regulation of urine volume [GO:0035810]; receptor guanylyl cyclase signaling pathway [GO:0007168]; regulation of blood pressure [GO:0008217]; regulation of blood vessel diameter [GO:0097746]; regulation of cardiac conduction [GO:1903779]; regulation of vascular permeability [GO:0043114]; signal transduction [GO:0007165]


uniprotID: C9JTQ0
geneSymbol: ANKRD63
name: Ankyrin repeat domain-containing protein 63
length: 380
sequence:


uniprotID: P53677
geneSymbol: AP3M2
length: 418
go: ENSG00000070718;
name:
AP-3 complex subunit mu-2 (Adaptor-related protein complex 3 subunit mu-2) (Clathrin assembly protein assembly protein complex 3 mu-2 medium chain) (Clathrin coat assembly protein AP47 homolog 2) (Clathrin coat-associated protein AP47 homolog 2) (Golgi adaptor AP-1 47 kDa protein homolog 2) (HA1 47 kDa subunit homolog 2) (Mu3B-adaptin) (P47B)

sequence:

opentargets:
AP-type membrane coat adaptor complex [GO:0030119]; axon cytoplasm [GO:1904115]; clathrin adaptor complex [GO:0030131]; cytoplasmic vesicle membrane [GO:0030659]; Golgi apparatus [GO:0005794]; anterograde axonal transport [GO:0008089]; anterograde synaptic vesicle transport [GO:0048490]; intracellular protein transport [GO:0006886]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P53677-1; Sequence=Displayed; Name=2; IsoId=P53677-2; Sequence=VSP_055790, VSP_055791; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Golgi apparatus. Cytoplasmic vesicle membrane {ECO:0000250}; Peripheral membrane protein {ECO:0000250}; Cytoplasmic side {ECO:0000250}. Note=Component of the coat surrounding the cytoplasmic face of coated vesicles located at the Golgi complex. {ECO:0000250}.


uniprotID: Q96PC3
geneSymbol: AP1S3
reactome: R-HSA-164940;R-HSA-2132295;R-HSA-432720;R-HSA-432722;
pdb: 4HMY;6CM9;6CRI;6D83;6D84;6DFF;
length: 154
go: ENSG00000152056;
snps: rs116107386 rs750870128 rs149183052 rs78536455 rs138292988 rs34353588 rs202157374
name:
AP-1 complex subunit sigma-3 (Adaptor protein complex AP-1 subunit sigma-1C) (Adaptor-related protein complex 1 subunit sigma-1C) (Clathrin assembly protein complex 1 sigma-1C small chain) (Golgi adaptor HA1/AP1 adaptin sigma-1C subunit) (Sigma 1C subunit of AP-1 clathrin) (Sigma-adaptin 1C) (Sigma1C-adaptin)

sequence:
MIHFILLFSRQGKLRLQKWYITLPDKERKKITREIVQIILSRGHRTSSFVDWKELKLVYKRYASLYFCCAIENQDNELLTLEIVHRYVELLDKYFGNVCELDIIFNFEKAYFILDEFIIGGEIQETSKKIAVKAIEDSDMLQEVSTVSQTMGER

opentargets:
clathrin-coated pit [GO:0005905]; cytoplasmic vesicle membrane [GO:0030659]; cytosol [GO:0005829]; Golgi membrane [GO:0000139]; intracellular membrane-bounded organelle [GO:0043231]; lysosomal membrane [GO:0005765]; membrane coat [GO:0030117]; trans-Golgi network membrane [GO:0032588]; antigen processing and presentation of exogenous peptide antigen via MHC class II [GO:0019886]; protein targeting [GO:0006605]; regulation of defense response to virus by virus [GO:0050690]; vesicle-mediated transport [GO:0016192]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=Q96PC3-1; Sequence=Displayed; Name=2; IsoId=Q96PC3-2; Sequence=VSP_015944; Note=May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.; Name=4; IsoId=Q96PC3-4; Sequence=VSP_040384; Note=No experimental confirmation available.; Name=3; IsoId=Q96PC3-3; Sequence=VSP_015942, VSP_015943; Note=May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.; 

location:
SUBCELLULAR LOCATION: Golgi apparatus. Cytoplasmic vesicle membrane; Peripheral membrane protein; Cytoplasmic side. Membrane, clathrin-coated pit. Note=Component of the coat surrounding the cytoplasmic face of coated vesicles located at the Golgi complex.


uniprotID: O00203
geneSymbol: AP3B1
reactome: R-HSA-432722;R-HSA-6802952;
length: 1094
go: ENSG00000132842;
snps: rs121908904 rs6453373
name:
AP-3 complex subunit beta-1 (Adaptor protein complex AP-3 subunit beta-1) (Adaptor-related protein complex 3 subunit beta-1) (Beta-3A-adaptin) (Clathrin assembly protein complex 3 beta-1 large chain)

sequence:

opentargets:
AP-3 adaptor complex [GO:0030123]; axon cytoplasm [GO:1904115]; clathrin adaptor complex [GO:0030131]; clathrin-coated vesicle membrane [GO:0030665]; Golgi apparatus [GO:0005794]; lysosomal membrane [GO:0005765]; membrane [GO:0016020]; postsynapse [GO:0098794]; GTP-dependent protein binding [GO:0030742]; protein phosphatase binding [GO:0019903]; anterograde axonal transport [GO:0008089]; anterograde synaptic vesicle transport [GO:0048490]; antigen processing and presentation, exogenous lipid antigen via MHC class Ib [GO:0048007]; blood coagulation [GO:0007596]; intracellular protein transport [GO:0006886]; melanosome organization [GO:0032438]; positive regulation of NK T cell differentiation [GO:0051138]; protein targeting to lysosome [GO:0006622]; synaptic vesicle budding from endosome [GO:0016182]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=O00203-1; Sequence=Displayed; Name=2; IsoId=O00203-3; Sequence=VSP_054708; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasmic vesicle, clathrin-coated vesicle membrane {ECO:0000250}; Peripheral membrane protein {ECO:0000250}; Cytoplasmic side {ECO:0000250}. Golgi apparatus {ECO:0000250}. Note=Component of the coat surrounding the cytoplasmic face of coated vesicles located at the Golgi complex. {ECO:0000250}.


uniprotID: O14727
geneSymbol: APAF1
reactome: R-HSA-111458;R-HSA-111459;R-HSA-6798695;R-HSA-6803207;R-HSA-8953750;
pdb: 1C15;1CWW;1CY5;1Z6T;2P1H;2YGS;3J2T;3JBT;3YGS;4RHW;5JUY;5WVC;5WVE;
name: Apoptotic protease-activating factor 1 (APAF-1)
length: 1248
go: ENSG00000120868;
drug: DB00171;
location: SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:12804598}.
sequence:

opentargets:
apoptosome [GO:0043293]; cytosol [GO:0005829]; extracellular exosome [GO:0070062]; extracellular region [GO:0005576]; ficolin-1-rich granule lumen [GO:1904813]; nucleus [GO:0005634]; protein-containing complex [GO:0032991]; secretory granule lumen [GO:0034774]; ADP binding [GO:0043531]; ATP binding [GO:0005524]; cysteine-type endopeptidase activator activity involved in apoptotic process [GO:0008656]; heat shock protein binding [GO:0031072]; identical protein binding [GO:0042802]; nucleotide binding [GO:0000166]; activation of cysteine-type endopeptidase activity involved in apoptotic process [GO:0006919]; activation of cysteine-type endopeptidase activity involved in apoptotic process by cytochrome c [GO:0008635]; aging [GO:0007568]; apoptotic process [GO:0006915]; cardiac muscle cell apoptotic process [GO:0010659]; cell differentiation [GO:0030154]; cellular response to transforming growth factor beta stimulus [GO:0071560]; forebrain development [GO:0030900]; intrinsic apoptotic signaling pathway [GO:0097193]; intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress [GO:0070059]; kidney development [GO:0001822]; negative regulation of G0 to G1 transition [GO:0070317]; nervous system development [GO:0007399]; neural tube closure [GO:0001843]; neuron apoptotic process [GO:0051402]; neutrophil degranulation [GO:0043312]; positive regulation of apoptotic process [GO:0043065]; positive regulation of apoptotic signaling pathway [GO:2001235]; protein homooligomerization [GO:0051260]; regulation of apoptotic DNA fragmentation [GO:1902510]; regulation of apoptotic process [GO:0042981]; response to G1 DNA damage checkpoint signaling [GO:0072432]; response to hypoxia [GO:0001666]; response to nutrient [GO:0007584]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=6;  Name=1; Synonyms=Apaf-1XL; IsoId=O14727-1; Sequence=Displayed; Name=2; Synonyms=Apaf-1L; IsoId=O14727-2; Sequence=VSP_006759; Name=3; Synonyms=Apaf-1S; IsoId=O14727-3; Sequence=VSP_006759, VSP_006761; Name=4; Synonyms=Apaf-1M; IsoId=O14727-4; Sequence=VSP_006761; Name=5; Synonyms=Apaf-1XS; IsoId=O14727-5; Sequence=VSP_006760, VSP_006761, VSP_006762; Name=6; Synonyms=Apaf-1-ALT; IsoId=O14727-6; Sequence=VSP_008965, VSP_008966; 


uniprotID: P07741
geneSymbol: APRT
reactome: R-HSA-6798695;R-HSA-74217;
pdb: 1OPU;1ORE;1ZN7;1ZN8;1ZN9;4X44;4X45;6FCH;6FCI;6FCL;6FD4;6FD5;6FD6;
name: Adenine phosphoribosyltransferase (APRT) (EC 2.4.2.7)
length: 180
go: ENSG00000198931;
drug: DB03506;DB00173;DB00131;DB01632;DB04272;
snps: rs104894506 rs200392753 rs104894508 rs8191494 rs28999113 rs281860266
location: SUBCELLULAR LOCATION: Cytoplasm.
sequence:
MADSELQLVEQRIRSFPDFPTPGVVFRDISPVLKDPASFRAAIGLLARHLKATHGGRIDYIAGLDSRGFLFGPSLAQELGLGCVLIRKRGKLPGPTLWASYSLEYGKAELEIQKDALEPGQRVVVVDDLLATGGTMNAACELLGRLQAEVLECVSLVELTSLKGREKLAPVPFFSLLQYE

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; extracellular exosome [GO:0070062]; extracellular region [GO:0005576]; nucleoplasm [GO:0005654]; secretory granule lumen [GO:0034774]; adenine binding [GO:0002055]; adenine phosphoribosyltransferase activity [GO:0003999]; AMP binding [GO:0016208]; adenine salvage [GO:0006168]; AMP salvage [GO:0044209]; cellular response to insulin stimulus [GO:0032869]; grooming behavior [GO:0007625]; lactation [GO:0007595]; neutrophil degranulation [GO:0043312]; purine ribonucleoside salvage [GO:0006166]; purine-containing compound salvage [GO:0043101]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P07741-1; Sequence=Displayed; Name=2; IsoId=P07741-2; Sequence=VSP_045705; Note=No experimental confirmation available.; 


uniprotID: Q8IU53
geneSymbol: CASC2
name: Protein CASC2, isoforms 1/2 (Cancer susceptibility candidate gene 2 protein isoforms 1/2)
sequence: MAGTRGLMLLGPGPVAGPRDVGTCRGRQMEIQKHKDNKKLPQGIIIVFRLQTHTTPQIYTQLKGKLRKFFKEPYSE
length: 76
isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; Synonyms=CASC2c; IsoId=Q8IU53-1; Sequence=Displayed; Name=2; Synonyms=CASC2b; IsoId=Q8IU53-2; Sequence=VSP_031978; Name=3; Synonyms=CASC2a; IsoId=Q6XLA1-1; Sequence=External; 


uniprotID: Q5H913
geneSymbol: ARL13A
name: ADP-ribosylation factor-like protein 13A
length: 290
go: ENSG00000174225;
sequence:

opentargets:
ciliary membrane [GO:0060170]; cilium [GO:0005929]; intracellular [GO:0005622]; non-motile cilium [GO:0097730]; GTP binding [GO:0005525]; non-motile cilium assembly [GO:1905515]; receptor localization to non-motile cilium [GO:0097500]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q5H913-1; Sequence=Displayed; Name=2; IsoId=Q5H913-2; Sequence=VSP_042678; Note=No experimental confirmation available.; 


uniprotID: Q3SXY8
geneSymbol: ARL13B
reactome: R-HSA-5624958;
length: 428
go: ENSG00000169379;
snps: rs121912606 rs863225430 rs121912608 rs33944211
name:
ADP-ribosylation factor-like protein 13B (ADP-ribosylation factor-like protein 2-like 1) (ARL2-like protein 1)

sequence:

opentargets:
axoneme [GO:0005930]; ciliary membrane [GO:0060170]; cilium [GO:0005929]; motile cilium [GO:0031514]; non-motile cilium [GO:0097730]; GTP binding [GO:0005525]; cilium assembly [GO:0060271]; dorsal/ventral pattern formation [GO:0009953]; formation of radial glial scaffolds [GO:0021943]; heart looping [GO:0001947]; interneuron migration from the subpallium to the cortex [GO:0021830]; left/right axis specification [GO:0070986]; neural tube patterning [GO:0021532]; non-motile cilium assembly [GO:1905515]; receptor localization to non-motile cilium [GO:0097500]; response to lithium ion [GO:0010226]; smoothened signaling pathway [GO:0007224]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q3SXY8-1; Sequence=Displayed; Name=2; IsoId=Q3SXY8-2; Sequence=VSP_020733; Note=No experimental confirmation available.; Name=3; IsoId=Q3SXY8-3; Sequence=VSP_045421; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cell projection, cilium membrane {ECO:0000269|PubMed:18554500, ECO:0000269|PubMed:24120134}; Lipid-anchor {ECO:0000269|PubMed:18554500, ECO:0000269|PubMed:24120134}. Cell projection, cilium {ECO:0000269|PubMed:25138100}. Note=Associates to the cilium membrane via palmitoylation. Localizes to proximal ciliary membranes, to an inversin-like subciliary membrane compartment, excluding the transition zone.


uniprotID: Q6NSI1
geneSymbol: ANKRD26P1
name: Putative ankyrin repeat domain-containing protein 26-like protein
length: 321
snps: rs1436436
sequence:


