# annotation

uniprotID: P26436
geneSymbol: ACRV1
name: Acrosomal protein SP-10 (Acrosomal vesicle protein 1)
length: 265
go: ENSG00000134940;
opentargets: acrosomal vesicle [GO:0001669]; multicellular organism development [GO:0007275]
snps: rs34788353
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=11;  Comment=Additional isoforms seem to exist.; Name=1; IsoId=P26436-1; Sequence=Displayed; Name=2; IsoId=P26436-2; Sequence=VSP_004127; Name=3; IsoId=P26436-3; Sequence=VSP_004120; Name=4; IsoId=P26436-4; Sequence=VSP_004121; Name=5; IsoId=P26436-5; Sequence=VSP_004121, VSP_004127; Name=6; IsoId=P26436-6; Sequence=VSP_004122; Name=7; IsoId=P26436-7; Sequence=VSP_004120, VSP_004125; Name=8; IsoId=P26436-8; Sequence=VSP_004121, VSP_004128; Name=9; IsoId=P26436-9; Sequence=VSP_004121, VSP_004126; Name=10; IsoId=P26436-10; Sequence=VSP_004123; Name=11; IsoId=P26436-11; Sequence=VSP_004124; 

location:
SUBCELLULAR LOCATION: Cytoplasmic vesicle, secretory vesicle, acrosome. Note=Nascent acrosomal vesicle of Golgi phase spermatids.


uniprotID: Q9NYV4
geneSymbol: CDK12
reactome: R-HSA-6796648;
pdb: 4CXA;4NST;4UN0;5ACB;6B3E;6CKX;
length: 1490
go: ENSG00000167258;
snps: rs56121596 rs56362165 rs34070318
name:
Cyclin-dependent kinase 12 (EC 2.7.11.22) (EC 2.7.11.23) (Cdc2-related kinase, arginine/serine-rich) (CrkRS) (Cell division cycle 2-related protein kinase 7) (CDC2-related protein kinase 7) (Cell division protein kinase 12) (hCDK12)

sequence:

opentargets:
chromosome [GO:0005694]; cyclin K-CDK12 complex [GO:0002944]; cyclin-dependent protein kinase holoenzyme complex [GO:0000307]; cyclin/CDK positive transcription elongation factor complex [GO:0008024]; fibrillar center [GO:0001650]; nuclear chromatin [GO:0000790]; nuclear cyclin-dependent protein kinase holoenzyme complex [GO:0019908]; nuclear speck [GO:0016607]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; ATP binding [GO:0005524]; cyclin binding [GO:0030332]; cyclin-dependent protein serine/threonine kinase activity [GO:0004693]; protein kinase activity [GO:0004672]; protein kinase binding [GO:0019901]; RNA polymerase II CTD heptapeptide repeat kinase activity [GO:0008353]; transcription factor binding [GO:0008134]; transcription regulatory region DNA binding [GO:0044212]; mRNA processing [GO:0006397]; negative regulation of stem cell differentiation [GO:2000737]; phosphorylation of RNA polymerase II C-terminal domain [GO:0070816]; positive regulation of transcription by RNA polymerase II [GO:0045944]; positive regulation of transcription elongation from RNA polymerase II promoter [GO:0032968]; protein autophosphorylation [GO:0046777]; protein phosphorylation [GO:0006468]; regulation of MAP kinase activity [GO:0043405]; regulation of RNA splicing [GO:0043484]; RNA splicing [GO:0008380]; transcription elongation from RNA polymerase II promoter [GO:0006368]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q9NYV4-1; Sequence=Displayed; Name=2; IsoId=Q9NYV4-2; Sequence=VSP_030284; Name=3; IsoId=Q9NYV4-3; Sequence=VSP_040908, VSP_040909, VSP_040910; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Nucleus. Nucleus speckle. Note=Colocalized with nuclear speckles throughout interphase.


uniprotID: Q00536
geneSymbol: CDK16
pdb: 3MTL;5G6V;
length: 496
go: ENSG00000102225;
name:
Cyclin-dependent kinase 16 (EC 2.7.11.22) (Cell division protein kinase 16) (PCTAIRE-motif protein kinase 1) (Serine/threonine-protein kinase PCTAIRE-1)

sequence:

opentargets:
cell junction [GO:0030054]; cytoplasm [GO:0005737]; cytosol [GO:0005829]; extrinsic component of cytoplasmic side of plasma membrane [GO:0031234]; microtubule cytoskeleton [GO:0015630]; neuron projection [GO:0043005]; nucleus [GO:0005634]; plasma membrane [GO:0005886]; synaptic vesicle [GO:0008021]; ATP binding [GO:0005524]; cyclin-dependent protein serine/threonine kinase activity [GO:0004693]; protein serine/threonine kinase activity [GO:0004674]; exocytosis [GO:0006887]; growth hormone secretion [GO:0030252]; neuron projection development [GO:0031175]; protein phosphorylation [GO:0006468]; regulation of insulin secretion involved in cellular response to glucose stimulus [GO:0061178]; spermatogenesis [GO:0007283]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q00536-1; Sequence=Displayed; Name=2; IsoId=Q00536-2; Sequence=VSP_046134; Note=No experimental confirmation available.; Name=3; IsoId=Q00536-3; Sequence=VSP_046342; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasm. Cytoplasmic vesicle, secretory vesicle. Cell membrane; Peripheral membrane protein; Cytoplasmic side. Cell junction, synapse, synaptosome {ECO:0000250}. Note=Colocalizes with insulin in pancreas islets. Recruited to the cell membrane by CCNY.


uniprotID: Q5SQI0
geneSymbol: ATAT1
reactome: R-HSA-5617833;
pdb: 3VWD;3VWE;4B5O;4B5P;4GS4;4IF5;4PK2;4PK3;4U9Y;4U9Z;
length: 421
go: ENSG00000137343;
name:
Alpha-tubulin N-acetyltransferase 1 (Alpha-TAT) (Alpha-TAT1) (TAT) (EC 2.3.1.108) (Acetyltransferase mec-17 homolog)

sequence:

opentargets:
axon [GO:0030424]; clathrin-coated pit [GO:0005905]; cytosol [GO:0005829]; focal adhesion [GO:0005925]; Golgi apparatus [GO:0005794]; microtubule [GO:0005874]; microtubule bundle [GO:0097427]; mitotic spindle [GO:0072686]; coenzyme binding [GO:0050662]; lysine N-acetyltransferase activity, acting on acetyl phosphate as donor [GO:0004468]; tubulin N-acetyltransferase activity [GO:0019799]; alpha-tubulin acetylation [GO:0071929]; cilium assembly [GO:0060271]; dentate gyrus development [GO:0021542]; neuron development [GO:0048666]; positive regulation of NLRP3 inflammasome complex assembly [GO:1900227]; regulation of fat cell differentiation [GO:0045598]; regulation of microtubule cytoskeleton organization [GO:0070507]; spermatogenesis [GO:0007283]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=7;  Name=1 {ECO:0000303|PubMed:14574404}; IsoId=Q5SQI0-1; Sequence=Displayed; Name=2 {ECO:0000303|PubMed:14574404, ECO:0000303|PubMed:15489334}; IsoId=Q5SQI0-2; Sequence=VSP_052899, VSP_052900; Name=3 {ECO:0000303|PubMed:14574404}; IsoId=Q5SQI0-3; Sequence=VSP_052901; Name=4 {ECO:0000303|PubMed:12880961, ECO:0000303|PubMed:14574404}; IsoId=Q5SQI0-4; Sequence=VSP_052902, VSP_052904; Name=5 {ECO:0000303|PubMed:14574404, ECO:0000303|PubMed:14702039}; IsoId=Q5SQI0-5; Sequence=VSP_052903; Name=6 {ECO:0000303|PubMed:14574404}; IsoId=Q5SQI0-6; Sequence=VSP_052901, VSP_052902, VSP_052904; Name=7 {ECO:0000303|PubMed:14574404, ECO:0000303|PubMed:15489334}; IsoId=Q5SQI0-7; Sequence=VSP_052901, VSP_052903; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000255|HAMAP-Rule:MF_03130, ECO:0000269|PubMed:24097348}. Membrane, clathrin-coated pit {ECO:0000255|HAMAP-Rule:MF_03130, ECO:0000269|PubMed:24097348}. Cell junction, focal adhesion {ECO:0000255|HAMAP-Rule:MF_03130, ECO:0000269|PubMed:24097348}. Cell projection, axon {ECO:0000255|HAMAP-Rule:MF_03130}. Cytoplasm, cytoskeleton {ECO:0000255|HAMAP-Rule:MF_03130}. Cytoplasm, cytoskeleton, spindle {ECO:0000255|HAMAP-Rule:MF_03130}.


uniprotID: P18846
geneSymbol: ATF1
reactome: R-HSA-199920;
length: 271
go: ENSG00000123268;
drug: DB00852;
snps: rs2230674
location: SUBCELLULAR LOCATION: Nucleus.
name:
Cyclic AMP-dependent transcription factor ATF-1 (cAMP-dependent transcription factor ATF-1) (Activating transcription factor 1) (Protein TREB36)

sequence:

opentargets:
ATF1-ATF4 transcription factor complex [GO:1990590]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; transcription factor complex [GO:0005667]; DNA-binding transcription activator activity, RNA polymerase II-specific [GO:0001228]; DNA-binding transcription factor activity [GO:0003700]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; identical protein binding [GO:0042802]; protein heterodimerization activity [GO:0046982]; protein-containing complex binding [GO:0044877]; RNA polymerase II regulatory region sequence-specific DNA binding [GO:0000977]; transcription factor activity, RNA polymerase II distal enhancer sequence-specific binding [GO:0003705]; cellular protein-containing complex assembly [GO:0034622]; positive regulation of DNA replication [GO:0045740]; positive regulation of neuron projection development [GO:0010976]; positive regulation of transcription by RNA polymerase II [GO:0045944]; response to cobalt ion [GO:0032025]; response to organic cyclic compound [GO:0014070]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P18846-1; Sequence=Displayed; Name=2; IsoId=P18846-2; Sequence=VSP_055559; Note=No experimental confirmation available.; 


uniprotID: P0DMR3
geneSymbol: ATXN8OS
length: 200
opentargets: cytoplasm [GO:0005737]
location: SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:24040107}.
name:
Putative protein ATXN8OS (ATXN8 opposite strand) (Spinocerebellar ataxia 8) (kelch-like 1 antisense)

sequence:


uniprotID: Q96QE3
geneSymbol: ATAD5
name: ATPase family AAA domain-containing protein 5 (Chromosome fragility-associated gene 1 protein)
length: 1844
go: ENSG00000176208;
snps: rs9910051 rs3816780 rs11080134 rs367699401 rs17826219 rs3764421 rs11657270
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000305}.
sequence:

opentargets:
Elg1 RFC-like complex [GO:0031391]; nucleus [GO:0005634]; ATP binding [GO:0005524]; DNA binding [GO:0003677]; DNA clamp unloader activity [GO:0061860]; B cell proliferation [GO:0042100]; DNA clamp unloading [GO:0090618]; intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator [GO:0042771]; isotype switching [GO:0045190]; negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator [GO:1902166]; nuclear DNA replication [GO:0033260]; nucleic acid phosphodiester bond hydrolysis [GO:0090305]; positive regulation of B cell proliferation [GO:0030890]; positive regulation of cell cycle G2/M phase transition [GO:1902751]; positive regulation of DNA replication [GO:0045740]; positive regulation of isotype switching to IgG isotypes [GO:0048304]; regulation of mitotic cell cycle phase transition [GO:1901990]; signal transduction in response to DNA damage [GO:0042770]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q96QE3-1; Sequence=Displayed; Name=2; IsoId=Q96QE3-2; Sequence=VSP_031097; Note=No experimental confirmation available.; 


uniprotID: Q9Y4P1
geneSymbol: ATG4B
reactome: R-HSA-1632852;
pdb: 2CY7;2D1I;2Z0D;2Z0E;2ZZP;5LXH;5LXI;
length: 393
go: ENSG00000168397;
snps: rs7601000
location: SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250}.
name:
Cysteine protease ATG4B (EC 3.4.22.-) (AUT-like 1 cysteine endopeptidase) (Autophagin-1) (Autophagy-related cysteine endopeptidase 1) (Autophagy-related protein 4 homolog B) (hAPG4B)

sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; cysteine-type endopeptidase activity [GO:0004197]; cysteine-type peptidase activity [GO:0008234]; endopeptidase activity [GO:0004175]; autophagosome assembly [GO:0000045]; autophagy [GO:0006914]; macroautophagy [GO:0016236]; positive regulation of protein catabolic process [GO:0045732]; protein delipidation [GO:0051697]; protein transport [GO:0015031]; proteolysis [GO:0006508]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=5;  Name=1; IsoId=Q9Y4P1-1; Sequence=Displayed; Name=2; IsoId=Q9Y4P1-2; Sequence=VSP_013029, VSP_013034; Note=No experimental confirmation available.; Name=3; IsoId=Q9Y4P1-3; Sequence=VSP_013028, VSP_013031, VSP_013032; Note=No experimental confirmation available.; Name=4; IsoId=Q9Y4P1-4; Sequence=VSP_013028, VSP_013033; Name=6; IsoId=Q9Y4P1-6; Sequence=VSP_013034; Note=No experimental confirmation available.; 


uniprotID: Q9NR28
geneSymbol: DIABLO
reactome: R-HSA-111457;R-HSA-111463;R-HSA-111464;
pdb: 1FEW;1G3F;1G73;1OXQ;1TW6;1XB0;1XB1;3D9U;3UIH;3UIJ;4TX5;
length: 239
go: ENSG00000184047;
snps: rs387906893
name:
Diablo homolog, mitochondrial (Direct IAP-binding protein with low pI) (Second mitochondria-derived activator of caspase) (Smac)

sequence:

opentargets:
CD40 receptor complex [GO:0035631]; cytoplasmic side of plasma membrane [GO:0009898]; cytosol [GO:0005829]; mitochondrial intermembrane space [GO:0005758]; mitochondrion [GO:0005739]; 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]; apoptotic process [GO:0006915]; extrinsic apoptotic signaling pathway via death domain receptors [GO:0008625]; intrinsic apoptotic signaling pathway [GO:0097193]; intrinsic apoptotic signaling pathway in response to oxidative stress [GO:0008631]; neuron apoptotic process [GO:0051402]; positive regulation of apoptotic process [GO:0043065]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q9NR28-1; Sequence=Displayed; Name=2; Synonyms=Diablo-S; IsoId=Q9NR28-2; Sequence=VSP_004397; Name=3; Synonyms=SMAC3; IsoId=Q9NR28-3; Sequence=VSP_042785; 

location:
SUBCELLULAR LOCATION: Mitochondrion {ECO:0000269|PubMed:14523016}. Note=Released into the cytosol when cells undergo apoptosis.


uniprotID: Q9Y4B6
geneSymbol: DCAF1
reactome: R-HSA-983168;
pdb: 3WA0;4CC9;4P7I;4PXW;4Z8L;5AJA;5JK7;
length: 1507
go: ENSG00000145041;
snps: rs3749318 rs17712228 rs9835229
name:
DDB1- and CUL4-associated factor 1 (HIV-1 Vpr-binding protein) (VprBP) (Serine/threonine-protein kinase VPRBP) (EC 2.7.11.1) (Vpr-interacting protein)

sequence:

opentargets:
Cul4-RING E3 ubiquitin ligase complex [GO:0080008]; cytoplasm [GO:0005737]; fibrillar center [GO:0001650]; nucleus [GO:0005634]; ATP binding [GO:0005524]; estrogen receptor binding [GO:0030331]; histone kinase activity (H2A-T120 specific) [GO:1990244]; B cell differentiation [GO:0030183]; cell competition in a multicellular organism [GO:0035212]; histone H2A-T120 phosphorylation [GO:1990245]; negative regulation of transcription by RNA polymerase II [GO:0000122]; protein ubiquitination [GO:0016567]; V(D)J recombination [GO:0033151]; viral process [GO:0016032]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q9Y4B6-1; Sequence=Displayed; Name=2; IsoId=Q9Y4B6-2; Sequence=VSP_025498; Note=No experimental confirmation available.; Name=3; IsoId=Q9Y4B6-3; Sequence=VSP_025499; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasm. Nucleus. Note=Associated with chromatin in a DDB1-independent and cell cycle-dependent manner: recruited to chromatin as DNA is being replicated and is released from chromatin before mitosis.


uniprotID: Q13409
geneSymbol: DYNC1I2
pdb: 5JPW;6F1T;6F1U;6F1Z;6F38;6F3A;
length: 638
go: ENSG00000077380;
reactome:
R-HSA-141444;R-HSA-2132295;R-HSA-2467813;R-HSA-2500257;R-HSA-2565942;R-HSA-3371497;R-HSA-380259;R-HSA-380270;R-HSA-380284;R-HSA-380320;R-HSA-5620912;R-HSA-5663220;R-HSA-6807878;R-HSA-6811436;R-HSA-68877;R-HSA-8854518;

name:
Cytoplasmic dynein 1 intermediate chain 2 (Cytoplasmic dynein intermediate chain 2) (Dynein intermediate chain 2, cytosolic) (DH IC-2)

sequence:

opentargets:
centrosome [GO:0005813]; cytoplasm [GO:0005737]; cytoplasmic dynein complex [GO:0005868]; cytosol [GO:0005829]; dynein complex [GO:0030286]; microtubule [GO:0005874]; vesicle [GO:0031982]; dynein heavy chain binding [GO:0045504]; dynein light chain binding [GO:0045503]; microtubule motor activity [GO:0003777]; antigen processing and presentation of exogenous peptide antigen via MHC class II [GO:0019886]; ciliary basal body-plasma membrane docking [GO:0097711]; ER to Golgi vesicle-mediated transport [GO:0006888]; G2/M transition of mitotic cell cycle [GO:0000086]; microtubule-based movement [GO:0007018]; regulation of G2/M transition of mitotic cell cycle [GO:0010389]; viral process [GO:0016032]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=6;  Name=2A; IsoId=Q13409-1; Sequence=Displayed; Name=2B; IsoId=Q13409-2; Sequence=VSP_001336; Name=2C; IsoId=Q13409-3; Sequence=VSP_001336, VSP_001337; Name=2E; IsoId=Q13409-5; Sequence=VSP_023011; Name=2F; IsoId=Q13409-6; Sequence=VSP_001336, VSP_001337, VSP_023011; Name=3; IsoId=Q13409-7; Sequence=VSP_054377, VSP_001337; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton {ECO:0000250|UniProtKB:O88487}. Cytoplasm {ECO:0000250|UniProtKB:O88487}. Note=Detected in the cytoplasm of pachytene spermatocytes. Localizes to the manchette in elongating spermatids. {ECO:0000250|UniProtKB:O88487}.


uniprotID: Q96JK2
geneSymbol: DCAF5
reactome: R-HSA-8951664;
pdb: 3I89;
length: 942
go: ENSG00000139990;
name:
DDB1- and CUL4-associated factor 5 (Breakpoint cluster region protein 2) (BCRP2) (WD repeat-containing protein 22)

sequence:

opentargets:
Cul4-RING E3 ubiquitin ligase complex [GO:0080008]; nucleoplasm [GO:0005654]; post-translational protein modification [GO:0043687]; protein ubiquitination [GO:0016567]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q96JK2-1; Sequence=Displayed; Name=2; IsoId=Q96JK2-2; Sequence=VSP_010386; Note=No experimental confirmation available.; Name=3; IsoId=Q96JK2-3; Sequence=VSP_055647; Note=No experimental confirmation available. Gene prediction based on cDNA data.; 


uniprotID: P19113
geneSymbol: HDC
reactome: R-HSA-70921;
pdb: 4E1O;
name: Histidine decarboxylase (HDC) (EC 4.1.1.22)
length: 662
go: ENSG00000140287;
drug: DB00117;DB00114;
snps: rs17740607 rs1353958864 rs16963486 rs2073440
sequence:

opentargets:
cytosol [GO:0005829]; histidine decarboxylase activity [GO:0004398]; pyridoxal phosphate binding [GO:0030170]; catecholamine biosynthetic process [GO:0042423]; histamine biosynthetic process [GO:0001694]; histidine catabolic process [GO:0006548]; histidine metabolic process [GO:0006547]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P19113-1; Sequence=Displayed; Name=2; IsoId=P19113-2; Sequence=VSP_056296; Note=No experimental confirmation available.; 


uniprotID: O75935
geneSymbol: DCTN3
name: Dynactin subunit 3 (Dynactin complex subunit 22 kDa subunit) (p22)
length: 186
go: ENSG00000137100;
reactome:
R-HSA-2132295;R-HSA-2565942;R-HSA-3371497;R-HSA-380259;R-HSA-380270;R-HSA-380284;R-HSA-380320;R-HSA-5620912;R-HSA-6807878;R-HSA-6811436;R-HSA-8854518;

sequence:
MAGLTDLQRLQARVEELERWVYGPGGARGSRKVADGLVKVQVALGNISSKRERVKILYKKIEDLIKYLDPEYIDRIAIPDASKLQFILAEEQFILSQVALLEQVNALVPMLDSAHIKAVPEHAARLQRLAQIHIQQQDQCVEITEESKALLEEYNKTTMLLSKQFVQWDELLCQLEAATQVKPAEE

opentargets:
centrosome [GO:0005813]; cleavage furrow [GO:0032154]; condensed chromosome kinetochore [GO:0000777]; cytosol [GO:0005829]; dynactin complex [GO:0005869]; microtubule [GO:0005874]; midbody [GO:0030496]; nucleolus [GO:0005730]; perinuclear region of cytoplasm [GO:0048471]; spindle [GO:0005819]; structural molecule activity [GO:0005198]; antigen processing and presentation of exogenous peptide antigen via MHC class II [GO:0019886]; ciliary basal body-plasma membrane docking [GO:0097711]; cytoskeleton-dependent cytokinesis [GO:0061640]; ER to Golgi vesicle-mediated transport [GO:0006888]; G2/M transition of mitotic cell cycle [GO:0000086]; microtubule-based process [GO:0007017]; mitotic cell cycle [GO:0000278]; regulation of G2/M transition of mitotic cell cycle [GO:0010389]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1 {ECO:0000269|PubMed:9722614}; IsoId=O75935-1; Sequence=Displayed; Name=2 {ECO:0000269|PubMed:15164053}; IsoId=O75935-2; Sequence=VSP_051964; Note=No experimental confirmation available. {ECO:0000305}; Name=3 {ECO:0000305}; IsoId=O75935-3; Sequence=VSP_051961; Note=No experimental confirmation available. {ECO:0000305}; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:9722614}. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome {ECO:0000269|PubMed:9722614}. Chromosome, centromere, kinetochore {ECO:0000269|PubMed:9722614}. Cytoplasm, cytoskeleton, spindle {ECO:0000269|PubMed:9722614}. Cleavage furrow {ECO:0000269|PubMed:9722614}. Midbody {ECO:0000269|PubMed:9722614}. Note=Localizes to punctate cytoplasmic structures and to the centrosome during interphase, and to kinetochores and to spindle poles throughout mitosis. Colocalizes with dynein to the cleavage furrow and to midbody of dividing cells.


uniprotID: Q7Z4W1
geneSymbol: DCXR
reactome: R-HSA-5661270;R-HSA-5662853;
pdb: 1PR9;1WNT;3D3W;
length: 244
go: ENSG00000169738;
drug: DB03461;DB02831;DB02325;
name:
L-xylulose reductase (XR) (EC 1.1.1.10) (Carbonyl reductase II) (Dicarbonyl/L-xylulose reductase) (Kidney dicarbonyl reductase) (kiDCR) (Short chain dehydrogenase/reductase family 20C member 1) (Sperm surface protein P34H)

sequence:

opentargets:
brush border [GO:0005903]; cytoplasmic microtubule [GO:0005881]; extracellular exosome [GO:0070062]; microvillus [GO:0005902]; nucleus [GO:0005634]; plasma membrane [GO:0005886]; carbonyl reductase (NADPH) activity [GO:0004090]; identical protein binding [GO:0042802]; L-xylulose reductase (NAD+) activity [GO:0044105]; L-xylulose reductase (NADP+) activity [GO:0050038]; oxidoreductase activity, acting on NAD(P)H, quinone or similar compound as acceptor [GO:0016655]; D-xylose metabolic process [GO:0042732]; glucose metabolic process [GO:0006006]; glucuronate catabolic process to xylulose 5-phosphate [GO:0019640]; NADP metabolic process [GO:0006739]; oxidation-reduction process [GO:0055114]; protein homotetramerization [GO:0051289]; xylulose metabolic process [GO:0005997]

location:
SUBCELLULAR LOCATION: Membrane {ECO:0000250}; Peripheral membrane protein {ECO:0000250}. Note=Probably recruited to membranes via an interaction with phosphatidylinositol. {ECO:0000250}.


uniprotID: O43602
geneSymbol: DCX
reactome: R-HSA-447043;
pdb: 1MJD;2BQQ;2XRP;4ATU;5IKC;5IN7;5IO9;5IOI;5IP4;6FNZ;
name: Neuronal migration protein doublecortin (Doublin) (Lissencephalin-X) (Lis-X)
length: 365
go: ENSG00000077279;
sequence:

opentargets:
axoneme [GO:0005930]; cytoskeleton [GO:0005856]; cytosol [GO:0005829]; microtubule [GO:0005874]; microtubule associated complex [GO:0005875]; neuron projection [GO:0043005]; microtubule binding [GO:0008017]; protein kinase binding [GO:0019901]; axoneme assembly [GO:0035082]; central nervous system development [GO:0007417]; intracellular signal transduction [GO:0035556]; nervous system development [GO:0007399]; neuron migration [GO:0001764]; photoreceptor cell development [GO:0042461]; retina development in camera-type eye [GO:0060041]

snps:
rs587783521 rs104894783 rs587783523 rs122457137 rs122457137 rs104894779 rs104894786 rs104894784 rs104894784 rs104894785 rs587783537 rs104894781 rs587783558 rs587783559 rs587783562 rs587783566 rs104894780 rs56030372 rs587783568 rs587783570 rs104894782 rs587783574 rs1324159050 rs587783585 rs398124557 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Comment=Additional isoforms seem to exist.; Name=1; IsoId=O43602-1; Sequence=Displayed; Name=2; IsoId=O43602-2; Sequence=VSP_058155; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000305}. Cell projection {ECO:0000250|UniProtKB:Q9ESI7}. Note=Localizes at neurite tips. {ECO:0000250|UniProtKB:Q9ESI7}.


uniprotID: Q9UMR2
geneSymbol: DDX19B
pdb: 3EWS;3FHC;3FHT;3FMO;3FMP;3G0H;6B4I;6B4J;6B4K;
length: 479
go: ENSG00000157349;
snps: rs34607244
name:
ATP-dependent RNA helicase DDX19B (EC 3.6.4.13) (DEAD box RNA helicase DEAD5) (DEAD box protein 19B)

sequence:

opentargets:
cytoplasm [GO:0005737]; extracellular exosome [GO:0070062]; membrane [GO:0016020]; nuclear envelope [GO:0005635]; nuclear membrane [GO:0031965]; nuclear pore [GO:0005643]; ATP binding [GO:0005524]; helicase activity [GO:0004386]; RNA binding [GO:0003723]; mRNA export from nucleus [GO:0006406]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=Q9UMR2-1; Sequence=Displayed; Name=2; IsoId=Q9UMR2-2; Sequence=VSP_015239; Name=3; IsoId=Q9UMR2-3; Sequence=VSP_041347; Name=4; IsoId=Q9UMR2-4; Sequence=VSP_044727, VSP_015239; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasm. Nucleus, nuclear pore complex. Nucleus membrane; Peripheral membrane protein; Cytoplasmic side. Note=Nuclear pore complex cytoplasmic fibrils.


uniprotID: Q8IXT1
geneSymbol: DDIAS
name: DNA damage-induced apoptosis suppressor protein (Nitric oxide-inducible gene protein)
length: 998
go: ENSG00000165490;
snps: rs17853911 rs7947780 rs35711622 rs11826199 rs7130899
sequence:

opentargets:
cytoplasm [GO:0005737]; nucleus [GO:0005634]; apoptotic process [GO:0006915]; cell cycle arrest [GO:0007050]; negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage [GO:1902230]; regulation of DNA stability [GO:0097752]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q8IXT1-1; Sequence=Displayed; Name=2; IsoId=Q8IXT1-2; Sequence=VSP_029606, VSP_029607; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250}. Nucleus {ECO:0000250}. Note=Accumulates in the nucleus in response to stress. {ECO:0000250}.


uniprotID: Q8WTU0
geneSymbol: DDI1
pdb: 3S8I;
name: Protein DDI1 homolog 1 (EC 3.4.23.-)
length: 396
go: ENSG00000170967;
opentargets: aspartic-type endopeptidase activity [GO:0004190]; ubiquitin binding [GO:0043130]
snps: rs7102675 rs17856633 rs17851870
sequence:


uniprotID: Q9NUL7
geneSymbol: DDX28
name: Probable ATP-dependent RNA helicase DDX28 (EC 3.6.4.13) (Mitochondrial DEAD box protein 28)
length: 540
go: ENSG00000182810;
snps: rs237831
sequence:

opentargets:
cytosol [GO:0005829]; mitochondrial nucleoid [GO:0042645]; mitochondrion [GO:0005739]; nucleolus [GO:0005730]; nucleus [GO:0005634]; ribonucleoprotein granule [GO:0035770]; ATP binding [GO:0005524]; helicase activity [GO:0004386]; RNA binding [GO:0003723]; rRNA binding [GO:0019843]; mitochondrial large ribosomal subunit assembly [GO:1902775]

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:11350955, ECO:0000269|PubMed:25683708}. Mitochondrion {ECO:0000269|PubMed:11350955}. Mitochondrion matrix, mitochondrion nucleoid {ECO:0000269|PubMed:25683715}. Mitochondrion matrix {ECO:0000269|PubMed:25683708}. Note=Transported between these two compartments. Nuclear localization depends on active RNA polymerase II transcription. Localizes to mitochondrial RNA granules found in close proximity to the mitochondrial nucleoids. {ECO:0000269|PubMed:25683708, ECO:0000269|PubMed:25683715}.


uniprotID: Q96HY6
geneSymbol: DDRGK1
name: DDRGK domain-containing protein 1 (Dashurin) (UFM1-binding and PCI domain-containing protein 1)
length: 314
go: ENSG00000198171;
snps: rs11591
location: SUBCELLULAR LOCATION: Endoplasmic reticulum {ECO:0000269|PubMed:20018847}.
sequence:

opentargets:
cytoplasm [GO:0005737]; endoplasmic reticulum [GO:0005783]; endoplasmic reticulum membrane [GO:0005789]; nucleolus [GO:0005730]; RNA polymerase II repressing transcription factor binding [GO:0001103]; ubiquitin-like protein ligase binding [GO:0044389]; cartilage development [GO:0051216]; negative regulation of apoptotic process [GO:0043066]; negative regulation of gene expression [GO:0010629]; negative regulation of proteasomal ubiquitin-dependent protein catabolic process [GO:0032435]; positive regulation of cell cycle G1/S phase transition [GO:1902808]; positive regulation of cell migration [GO:0030335]; positive regulation of cell proliferation [GO:0008284]; positive regulation of gene expression [GO:0010628]; positive regulation of I-kappaB phosphorylation [GO:1903721]; positive regulation of metallopeptidase activity [GO:1905050]; positive regulation of NF-kappaB transcription factor activity [GO:0051092]; positive regulation of proteasomal protein catabolic process [GO:1901800]; positive regulation of proteasomal ubiquitin-dependent protein catabolic process [GO:0032436]; positive regulation of protein localization to endoplasmic reticulum [GO:1905552]; positive regulation of RNA polymerase II regulatory region sequence-specific DNA binding [GO:1905636]; positive regulation of transcription by RNA polymerase II [GO:0045944]; protein K69-linked ufmylation [GO:1990592]; regulation of intracellular estrogen receptor signaling pathway [GO:0033146]; response to endoplasmic reticulum stress [GO:0034976]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q96HY6-1; Sequence=Displayed; Name=2; IsoId=Q96HY6-2; Sequence=VSP_008391; 


uniprotID: Q9Y2R4
geneSymbol: DDX52
reactome: R-HSA-6790901;R-HSA-6791226;
pdb: 3DKP;
length: 599
snps: rs7216445
location: SUBCELLULAR LOCATION: Nucleus, nucleolus {ECO:0000269|PubMed:12429849}.
name:
Probable ATP-dependent RNA helicase DDX52 (EC 3.6.4.13) (ATP-dependent RNA helicase ROK1-like) (DEAD box protein 52)

sequence:

opentargets:
membrane [GO:0016020]; nucleolus [GO:0005730]; nucleoplasm [GO:0005654]; ATP binding [GO:0005524]; helicase activity [GO:0004386]; RNA binding [GO:0003723]; rRNA processing [GO:0006364]


uniprotID: Q86TM3
geneSymbol: DDX53
pdb: 3IUY;
length: 631
go: ENSG00000184735;
snps: rs4412516 rs5925720 rs5926203
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:11922625}.
name:
Probable ATP-dependent RNA helicase DDX53 (EC 3.6.4.13) (Cancer-associated gene protein) (Cancer/testis antigen 26) (CT26) (DEAD box protein 53) (DEAD box protein CAGE)

sequence:

opentargets:
nucleus [GO:0005634]; ATP binding [GO:0005524]; helicase activity [GO:0004386]; RNA binding [GO:0003723]


uniprotID: Q9GZR7
geneSymbol: DDX24
name: ATP-dependent RNA helicase DDX24 (EC 3.6.4.13) (DEAD box protein 24)
length: 859
go: ENSG00000089737;
snps: rs35413935
sequence:

opentargets:
membrane [GO:0016020]; nucleolus [GO:0005730]; ATP binding [GO:0005524]; RNA binding [GO:0003723]; RNA helicase activity [GO:0003724]; RNA metabolic process [GO:0016070]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9GZR7-1; Sequence=Displayed; Name=2; IsoId=Q9GZR7-2; Sequence=VSP_053881; Note=No experimental confirmation available.; 


uniprotID: Q9UHL0
geneSymbol: DDX25
pdb: 2RB4;
length: 483
go: ENSG00000109832;
name:
ATP-dependent RNA helicase DDX25 (EC 3.6.4.13) (DEAD box protein 25) (Gonadotropin-regulated testicular RNA helicase)

sequence:

opentargets:
chromatoid body [GO:0033391]; cytoplasm [GO:0005737]; nucleus [GO:0005634]; ATP binding [GO:0005524]; ATP-dependent RNA helicase activity [GO:0004004]; RNA binding [GO:0003723]; mRNA export from nucleus [GO:0006406]; multicellular organism development [GO:0007275]; regulation of translation [GO:0006417]; spermatid development [GO:0007286]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative initiation; Named isoforms=2;  Name=1; IsoId=Q9UHL0-1; Sequence=Displayed; Name=2; IsoId=Q9UHL0-2; Sequence=VSP_018875; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:10608860}. Nucleus {ECO:0000250}. Note=Detected in both cytoplasm and nucleus of testicular cells. Also detected in chromatoid bodies of round spermatids (By similarity). {ECO:0000250}.


uniprotID: O75398
geneSymbol: DEAF1
pdb: 2JW6;4A24;5UWW;
length: 565
go: ENSG00000177030;
snps: rs751727919 rs1127312 rs587777408 rs587777623 rs587777406 rs587777409 rs587777407 rs34114147
name:
Deformed epidermal autoregulatory factor 1 homolog (Nuclear DEAF-1-related transcriptional regulator) (NUDR) (Suppressin) (Zinc finger MYND domain-containing protein 5)

sequence:

opentargets:
cytoplasm [GO:0005737]; extracellular region [GO:0005576]; fibrillar center [GO:0001650]; nucleus [GO:0005634]; transcription factor complex [GO:0005667]; DNA-binding transcription factor activity [GO:0003700]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; DNA-binding transcription repressor activity, RNA polymerase II-specific [GO:0001227]; metal ion binding [GO:0046872]; RNA polymerase II regulatory region sequence-specific DNA binding [GO:0000977]; anatomical structure morphogenesis [GO:0009653]; behavioral fear response [GO:0001662]; embryonic skeletal system development [GO:0048706]; germ cell development [GO:0007281]; negative regulation of transcription by RNA polymerase II [GO:0000122]; negative regulation of transcription, DNA-templated [GO:0045892]; neural tube closure [GO:0001843]; positive regulation of transcription, DNA-templated [GO:0045893]; regulation of mammary gland epithelial cell proliferation [GO:0033599]; regulation of transcription by RNA polymerase II [GO:0006357]; transcription by RNA polymerase II [GO:0006366]; visual learning [GO:0008542]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; Synonyms=Hu-DF1; IsoId=O75398-1; Sequence=Displayed; Name=2; Synonyms=NUDR8; IsoId=O75398-3; Sequence=VSP_005967; Name=3; Synonyms=Suppressin; IsoId=O75398-4; Sequence=VSP_005966; Note=Has no predictable signal peptide. {ECO:0000305}; Name=4; Synonyms=Hu-DF1-VAR; IsoId=O75398-5; Sequence=VSP_038701, VSP_038702; 

location:
SUBCELLULAR LOCATION: Isoform 1: Nucleus. Cytoplasm. Note=Cytoplasmic in non-mucinous colorectal carcinoma. When expressed alone, localized almost exclusively in the nucleus but, when expressed with isoform 4, nuclear expression decreases to 32% and cytoplasmic expression increases by 270%.; SUBCELLULAR LOCATION: Isoform 2: Secreted. Note=Secreted in some cell types.; SUBCELLULAR LOCATION: Isoform 3: Secreted. Note=Secreted in some cell types.; SUBCELLULAR LOCATION: Isoform 4: Cytoplasm. Nucleus. Note=When expressed alone, localizes mainly in the cytoplasm but, when expressed with isoform 1, nuclear localization is enhanced.


uniprotID: O60759
geneSymbol: CYTIP
pdb: 2Z17;
length: 359
go: ENSG00000115165;
snps: rs1042038 rs2229345
name:
Cytohesin-interacting protein (Cytohesin binder and regulator) (CYBR) (Cytohesin-associated scaffolding protein) (CASP) (Cytohesin-binding protein HE) (Cbp HE) (Pleckstrin homology Sec7 and coiled-coil domains-binding protein)

sequence:

opentargets:
cell cortex [GO:0005938]; cytoplasm [GO:0005737]; cytosol [GO:0005829]; early endosome [GO:0005769]; nucleoplasm [GO:0005654]; regulation of cell adhesion [GO:0030155]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=O60759-1; Sequence=Displayed; Name=2; IsoId=O60759-2; Sequence=VSP_055502; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasm. Early endosome. Note=Recruited from the cytosol to endosomes by SNX27.


uniprotID: A6NKP2
geneSymbol: SDR42E2
name: Putative short-chain dehydrogenase/reductase family 42E member 2 (EC 1.1.1.-)
length: 422
sequence:

opentargets:
3-beta-hydroxy-delta5-steroid dehydrogenase activity [GO:0003854]; oxidoreductase activity [GO:0016491]; oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor [GO:0016616]; steroid biosynthetic process [GO:0006694]


uniprotID: Q9NUU7
geneSymbol: DDX19A
name: ATP-dependent RNA helicase DDX19A (EC 3.6.4.13) (DDX19-like protein) (DEAD box protein 19A)
length: 478
go: ENSG00000168872;
sequence:

opentargets:
cytoplasm [GO:0005737]; membrane [GO:0016020]; nuclear membrane [GO:0031965]; nuclear pore [GO:0005643]; ATP binding [GO:0005524]; helicase activity [GO:0004386]; RNA binding [GO:0003723]; mRNA transport [GO:0051028]; protein transport [GO:0015031]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9NUU7-1; Sequence=Displayed; Name=2; IsoId=Q9NUU7-2; Sequence=VSP_056954; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250}. Nucleus, nuclear pore complex. Nucleus membrane {ECO:0000250}; Peripheral membrane protein {ECO:0000250}; Cytoplasmic side {ECO:0000250}. Note=Nuclear pore complex cytoplasmic fibrils.


uniprotID: P20711
geneSymbol: DDC
reactome: R-HSA-209905;R-HSA-209931;
pdb: 3RBF;3RBL;3RCH;
name: Aromatic-L-amino-acid decarboxylase (AADC) (EC 4.1.1.28) (DOPA decarboxylase) (DDC)
length: 480
go: ENSG00000132437;
drug: DB00915;DB00190;DB05307;DB00260;DB06262;DB00875;DB00150;DB01235;DB00968;DB00114;
sequence:

opentargets:
axon [GO:0030424]; cytosol [GO:0005829]; extracellular exosome [GO:0070062]; neuronal cell body [GO:0043025]; synaptic vesicle [GO:0008021]; amino acid binding [GO:0016597]; aromatic-L-amino-acid decarboxylase activity [GO:0004058]; enzyme binding [GO:0019899]; L-dopa decarboxylase activity [GO:0036468]; protein domain specific binding [GO:0019904]; pyridoxal phosphate binding [GO:0030170]; aminergic neurotransmitter loading into synaptic vesicle [GO:0015842]; catecholamine biosynthetic process [GO:0042423]; cellular amino acid metabolic process [GO:0006520]; cellular response to alkaloid [GO:0071312]; cellular response to drug [GO:0035690]; cellular response to growth factor stimulus [GO:0071363]; circadian rhythm [GO:0007623]; dopamine biosynthetic process [GO:0042416]; indolalkylamine biosynthetic process [GO:0046219]; isoquinoline alkaloid metabolic process [GO:0033076]; multicellular organism aging [GO:0010259]; phytoalexin metabolic process [GO:0052314]; response to pyrethroid [GO:0046684]; serotonin biosynthetic process [GO:0042427]

snps:
rs6264 rs780542462 rs11575292 rs137853211 rs137853207 rs137853210 rs6262 rs6263 rs11575377 rs11575376 rs137853208 rs137853212 rs137853209 rs201951824 rs11575542 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=P20711-1; Sequence=Displayed; Name=2; Synonyms=alt-DDC; IsoId=P20711-2; Sequence=VSP_046569, VSP_046570; Note=High expression in kidney.; Name=3; IsoId=P20711-3; Sequence=VSP_047175; Note=No experimental confirmation available. Gene prediction based on EST data.; Name=4; IsoId=P20711-4; Sequence=VSP_047176; Note=No experimental confirmation available. Gene prediction based on EST data.; 


uniprotID: Q16531
geneSymbol: DDB1
length: 1140
go: ENSG00000167986;
snps: rs28720299
reactome:
R-HSA-110314;R-HSA-5696394;R-HSA-5696395;R-HSA-5696400;R-HSA-6781823;R-HSA-6781827;R-HSA-6782135;R-HSA-6782210;R-HSA-8951664;

pdb:
2B5L;2B5M;2B5N;2HYE;3E0C;3EI1;3EI2;3EI3;3EI4;3I7H;3I7K;3I7L;3I7N;3I7O;3I7P;3I89;3I8C;3I8E;4A08;4A09;4A0A;4A0B;4A0K;4A0L;4A11;4CI1;4CI2;4CI3;4E54;4E5Z;4TZ4;5FQD;5HXB;5JK7;5V3O;6BN7;6BN8;6BN9;6BNB;6BOY;

name:
DNA damage-binding protein 1 (DDB p127 subunit) (DNA damage-binding protein a) (DDBa) (Damage-specific DNA-binding protein 1) (HBV X-associated protein 1) (XAP-1) (UV-damaged DNA-binding factor) (UV-damaged DNA-binding protein 1) (UV-DDB 1) (XPE-binding factor) (XPE-BF) (Xeroderma pigmentosum group E-complementing protein) (XPCe)

sequence:

opentargets:
Cul4-RING E3 ubiquitin ligase complex [GO:0080008]; Cul4A-RING E3 ubiquitin ligase complex [GO:0031464]; Cul4B-RING E3 ubiquitin ligase complex [GO:0031465]; cytoplasm [GO:0005737]; extracellular exosome [GO:0070062]; extracellular space [GO:0005615]; nuclear chromosome, telomeric region [GO:0000784]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; protein-containing complex [GO:0032991]; cullin family protein binding [GO:0097602]; damaged DNA binding [GO:0003684]; DNA binding [GO:0003677]; protein binding, bridging [GO:0030674]; protein-containing complex binding [GO:0044877]; WD40-repeat domain binding [GO:0071987]; cellular response to DNA damage stimulus [GO:0006974]; DNA damage response, detection of DNA damage [GO:0042769]; DNA repair [GO:0006281]; global genome nucleotide-excision repair [GO:0070911]; histone H2A monoubiquitination [GO:0035518]; interaction with symbiont [GO:0051702]; negative regulation of apoptotic process [GO:0043066]; nucleotide-excision repair [GO:0006289]; nucleotide-excision repair, DNA damage recognition [GO:0000715]; nucleotide-excision repair, DNA incision [GO:0033683]; nucleotide-excision repair, DNA incision, 5'-to lesion [GO:0006296]; nucleotide-excision repair, preincision complex assembly [GO:0006294]; nucleotide-excision repair, preincision complex stabilization [GO:0006293]; positive regulation by virus of viral protein levels in host cell [GO:0046726]; positive regulation of protein catabolic process [GO:0045732]; positive regulation of viral genome replication [GO:0045070]; positive regulation of viral release from host cell [GO:1902188]; post-translational protein modification [GO:0043687]; proteasomal protein catabolic process [GO:0010498]; proteasome-mediated ubiquitin-dependent protein catabolic process [GO:0043161]; protein ubiquitination [GO:0016567]; regulation of mitotic cell cycle phase transition [GO:1901990]; transcription-coupled nucleotide-excision repair [GO:0006283]; ubiquitin-dependent protein catabolic process [GO:0006511]; UV-damage excision repair [GO:0070914]; viral process [GO:0016032]; Wnt signaling pathway [GO:0016055]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q16531-1; Sequence=Displayed; Name=2; IsoId=Q16531-2; Sequence=VSP_055540; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasm. Nucleus. Note=Primarily cytoplasmic. Translocates to the nucleus following UV irradiation and subsequently accumulates at sites of DNA damage.


uniprotID: Q08345
geneSymbol: DDR1
reactome: R-HSA-3000171;
pdb: 3ZOS;4AG4;4BKJ;4CKR;5BVK;5BVN;5BVO;5BVW;5FDP;5FDX;6GWR;
length: 913
go: ENSG00000204580;
drug: DB00619;
snps: rs55901302 rs34544756 rs55980643 rs56231803 rs56024191 rs2524235
name:
Epithelial discoidin domain-containing receptor 1 (Epithelial discoidin domain receptor 1) (EC 2.7.10.1) (CD167 antigen-like family member A) (Cell adhesion kinase) (Discoidin receptor tyrosine kinase) (HGK2) (Mammary carcinoma kinase 10) (MCK-10) (Protein-tyrosine kinase 3A) (Protein-tyrosine kinase RTK-6) (TRK E) (Tyrosine kinase DDR) (Tyrosine-protein kinase CAK) (CD antigen CD167a)

sequence:

opentargets:
cytoplasm [GO:0005737]; extracellular exosome [GO:0070062]; extracellular space [GO:0005615]; integral component of plasma membrane [GO:0005887]; plasma membrane [GO:0005886]; receptor complex [GO:0043235]; ATP binding [GO:0005524]; collagen binding [GO:0005518]; metal ion binding [GO:0046872]; protein tyrosine kinase collagen receptor activity [GO:0038062]; transmembrane receptor protein tyrosine kinase activity [GO:0004714]; transmembrane signaling receptor activity [GO:0004888]; axon development [GO:0061564]; branching involved in mammary gland duct morphogenesis [GO:0060444]; cell adhesion [GO:0007155]; cell differentiation [GO:0030154]; collagen-activated tyrosine kinase receptor signaling pathway [GO:0038063]; ear development [GO:0043583]; embryo implantation [GO:0007566]; extracellular matrix organization [GO:0030198]; lactation [GO:0007595]; mammary gland alveolus development [GO:0060749]; negative regulation of apoptotic process [GO:0043066]; negative regulation of cell proliferation [GO:0008285]; negative regulation of signal transduction [GO:0009968]; neuron projection extension [GO:1990138]; peptidyl-tyrosine autophosphorylation [GO:0038083]; positive regulation of ERK1 and ERK2 cascade [GO:0070374]; protein autophosphorylation [GO:0046777]; regulation of cell growth [GO:0001558]; regulation of cell-matrix adhesion [GO:0001952]; regulation of extracellular matrix disassembly [GO:0010715]; smooth muscle cell migration [GO:0014909]; smooth muscle cell-matrix adhesion [GO:0061302]; wound healing, spreading of cells [GO:0044319]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=5;  Name=1; Synonyms=CAK I, DDR1b; IsoId=Q08345-1; Sequence=Displayed; Name=2; Synonyms=CAK II, DDR1a, Short; IsoId=Q08345-2; Sequence=VSP_002953; Name=3; Synonyms=DDR1d; IsoId=Q08345-4; Sequence=VSP_036916, VSP_036917; 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=Q08345-5; Sequence=VSP_038057; Name=5; IsoId=Q08345-6; Sequence=VSP_043582, VSP_002953; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Isoform 1: Cell membrane; Single-pass type I membrane protein.; SUBCELLULAR LOCATION: Isoform 2: Cell membrane; Single-pass type I membrane protein.; SUBCELLULAR LOCATION: Isoform 3: Secreted {ECO:0000305}.; SUBCELLULAR LOCATION: Isoform 4: Cell membrane; Single-pass type I membrane protein.


uniprotID: Q92771
geneSymbol: DDX12P
length: 950
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000250}.
name:
Putative ATP-dependent RNA helicase DDX12 (EC 3.6.4.13) (CHL1-related protein 2) (hCHLR2) (DEAD/H box protein 12)

sequence:

opentargets:
nucleus [GO:0005634]; ATP binding [GO:0005524]; ATP-dependent DNA helicase activity [GO:0004003]; DNA binding [GO:0003677]; RNA binding [GO:0003723]; RNA-dependent ATPase activity [GO:0008186]; DNA duplex unwinding [GO:0032508]; establishment of sister chromatid cohesion [GO:0034085]; nucleobase-containing compound metabolic process [GO:0006139]


uniprotID: Q8N8A6
geneSymbol: DDX51
name: ATP-dependent RNA helicase DDX51 (EC 3.6.4.13) (DEAD box protein 51)
length: 666
go: ENSG00000185163;
snps: rs17857214 rs17855642 rs17855639 rs17857213 rs1133690 rs60927391 rs17853968 rs17853969
location: SUBCELLULAR LOCATION: Nucleus, nucleolus {ECO:0000250}.
sequence:

opentargets:
membrane [GO:0016020]; nucleolus [GO:0005730]; ATP binding [GO:0005524]; helicase activity [GO:0004386]; RNA binding [GO:0003723]; rRNA processing [GO:0006364]


uniprotID: Q9BUQ8
geneSymbol: DDX23
reactome: R-HSA-72163;R-HSA-72165;
pdb: 3JCR;4NHO;
length: 820
go: ENSG00000174243;
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:20858735, ECO:0000269|PubMed:9409622}.
name:
Probable ATP-dependent RNA helicase DDX23 (EC 3.6.4.13) (100 kDa U5 snRNP-specific protein) (DEAD box protein 23) (PRP28 homolog) (U5-100kD)

sequence:

opentargets:
catalytic step 2 spliceosome [GO:0071013]; extracellular exosome [GO:0070062]; nucleolus [GO:0005730]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; U5 snRNP [GO:0005682]; ATP binding [GO:0005524]; ATP-dependent RNA helicase activity [GO:0004004]; RNA binding [GO:0003723]; cis assembly of pre-catalytic spliceosome [GO:0000354]; mRNA splicing, via spliceosome [GO:0000398]; RNA splicing [GO:0008380]; RNA splicing, via transesterification reactions [GO:0000375]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9BUQ8-1; Sequence=Displayed; Name=2; IsoId=Q9BUQ8-2; Sequence=VSP_056575, VSP_056576; Note=No experimental confirmation available.; 


uniprotID: Q8NHQ9
geneSymbol: DDX55
name: ATP-dependent RNA helicase DDX55 (EC 3.6.4.13) (DEAD box protein 55)
length: 600
go: ENSG00000111364;
snps: rs17881657 rs17886035 rs11057306 rs10773019
sequence:

opentargets:
cytosol [GO:0005829]; membrane [GO:0016020]; nucleolus [GO:0005730]; nucleus [GO:0005634]; ATP binding [GO:0005524]; helicase activity [GO:0004386]; RNA binding [GO:0003723]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q8NHQ9-1; Sequence=Displayed; Name=2; IsoId=Q8NHQ9-2; Sequence=VSP_056155; Note=No experimental confirmation available.; 


uniprotID: Q5TB30
geneSymbol: DEPDC1
pdb: 2YSR;
name: DEP domain-containing protein 1A
length: 811
go: ENSG00000024526;
snps: rs3790479
sequence:

opentargets:
nucleus [GO:0005634]; transcriptional repressor complex [GO:0017053]; GTPase activator activity [GO:0005096]; intracellular signal transduction [GO:0035556]; negative regulation of transcription, DNA-templated [GO:0045892]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; Synonyms=DEPDC1-V1; IsoId=Q5TB30-5; Sequence=Displayed; Name=2; Synonyms=DEPDC1-V2; IsoId=Q5TB30-2; Sequence=VSP_024652, VSP_024653; 

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:17452976, ECO:0000269|PubMed:20587513}. Note=Colocalizes with ZNF224 at the nucleus.


uniprotID: O75140
geneSymbol: DEPDC5
pdb: 6CES;6CET;
name: GATOR complex protein DEPDC5 (DEP domain-containing protein 5)
length: 1603
go: ENSG00000100150;
sequence:

opentargets:
cytosol [GO:0005829]; GATOR1 complex [GO:1990130]; lysosomal membrane [GO:0005765]; lysosome [GO:0005764]; perinuclear region of cytoplasm [GO:0048471]; GTPase activator activity [GO:0005096]; protein-containing complex binding [GO:0044877]; cellular response to amino acid starvation [GO:0034198]; intracellular signal transduction [GO:0035556]; negative regulation of TOR signaling [GO:0032007]; negative regulation of TORC1 signaling [GO:1904262]

snps:
rs768456731 rs886039276 rs187334123 rs202226316 rs886039278 rs8138516 rs886039279 rs16989528 rs16989535 rs564667614 rs757609394 rs754608531 rs142540948 rs79027628 rs578244490 rs886039280 rs886039281 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=8;  Name=10; IsoId=O75140-10; Sequence=Displayed; Name=2; IsoId=O75140-2; Sequence=VSP_014933, VSP_014934; Note=No experimental confirmation available.; Name=4; IsoId=O75140-4; Sequence=VSP_014938; Note=No experimental confirmation available.; Name=5; IsoId=O75140-5; Sequence=VSP_014941; Note=No experimental confirmation available.; Name=6; IsoId=O75140-6; Sequence=VSP_014936, VSP_014939, VSP_014940; Note=No experimental confirmation available. May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.; Name=8; IsoId=O75140-8; Sequence=VSP_014936, VSP_014938; Note=No experimental confirmation available.; Name=9; IsoId=O75140-9; Sequence=VSP_014937; Name=1; IsoId=O75140-1; Sequence=VSP_014937, VSP_014938; 

location:
SUBCELLULAR LOCATION: Cytoplasm, cytosol {ECO:0000250|UniProtKB:P61460}. Cytoplasm, perinuclear region {ECO:0000250|UniProtKB:P61460}. Lysosome membrane {ECO:0000269|PubMed:28199306}. Note=Localization to lysosomes is amino acid-independent. {ECO:0000269|PubMed:28199306}.


uniprotID: Q07507
geneSymbol: DPT
name: Dermatopontin (Tyrosine-rich acidic matrix protein) (TRAMP)
length: 201
go: ENSG00000143196;
snps: rs6698023
location: SUBCELLULAR LOCATION: Secreted, extracellular space, extracellular matrix {ECO:0000250}.
sequence:

opentargets:
collagen-containing extracellular matrix [GO:0062023]; extracellular space [GO:0005615]; extracellular matrix structural constituent [GO:0005201]; cell adhesion [GO:0007155]; collagen fibril organization [GO:0030199]; negative regulation of cell proliferation [GO:0008285]


uniprotID: P17661
geneSymbol: DES
reactome: R-HSA-390522;
name: Desmin
length: 470
go: ENSG00000175084;
sequence:

opentargets:
cardiac myofibril [GO:0097512]; cytosol [GO:0005829]; extracellular exosome [GO:0070062]; fascia adherens [GO:0005916]; intercalated disc [GO:0014704]; intermediate filament [GO:0005882]; intermediate filament cytoskeleton [GO:0045111]; neuromuscular junction [GO:0031594]; nucleus [GO:0005634]; sarcolemma [GO:0042383]; Z disc [GO:0030018]; cytoskeletal protein binding [GO:0008092]; identical protein binding [GO:0042802]; structural constituent of cytoskeleton [GO:0005200]; cytoskeleton organization [GO:0007010]; intermediate filament organization [GO:0045109]; muscle contraction [GO:0006936]; muscle filament sliding [GO:0030049]; regulation of heart contraction [GO:0008016]

snps:
rs58999456 rs903985237 rs62636495 rs60798368 rs60794845 rs60794845 rs267607499 rs41272699 rs201945924 rs267607486 rs59962885 rs57496341 rs267607482 rs57639980 rs57965306 rs61368398 rs58898021 rs121913000 rs59308628 rs57955682 rs121913004 rs121913001 rs61130669 rs57694264 rs121913003 rs62635763 rs121913005 rs267607485 rs121913002 rs267607488 rs267607490 rs267607491 

location:
SUBCELLULAR LOCATION: Cytoplasm, myofibril, sarcomere, Z line {ECO:0000269|PubMed:24200904, ECO:0000269|PubMed:26724190}. Cytoplasm {ECO:0000269|PubMed:25394388}. Cell membrane, sarcolemma {ECO:0000269|PubMed:25394388}. Nucleus {ECO:0000250|UniProtKB:P31001}. Note=Localizes in the intercalated disks which occur at the Z line of cardiomyocytes (PubMed:24200904, PubMed:26724190). Localizes in the nucleus exclusively in differentiating cardiac progenitor cells and premature cardiomyocytes (By similarity). {ECO:0000250|UniProtKB:P31001, ECO:0000269|PubMed:24200904, ECO:0000269|PubMed:26724190}.


uniprotID: O15263
geneSymbol: DEFB4A; DEFB4B
reactome: R-HSA-1461957;R-HSA-1461973;
pdb: 1E4Q;1FD3;1FD4;1FQQ;6CS9;
sequence: MRVLYLLFSFLFIFLMPLPGVFGGIGDPVTCLKSGAICHPVFCPRRYKQIGTCGLPGTKCCKKP
length: 64
go: ENSG00000171711;ENSG00000177257;
location: SUBCELLULAR LOCATION: Secreted.
name:
Beta-defensin 4A (Beta-defensin 2) (BD-2) (hBD-2) (Defensin, beta 2) (Skin-antimicrobial peptide 1) (SAP1)

opentargets:
extracellular region [GO:0005576]; extracellular space [GO:0005615]; Golgi lumen [GO:0005796]; intracellular [GO:0005622]; CCR6 chemokine receptor binding [GO:0031731]; chemoattractant activity [GO:0042056]; antimicrobial humoral immune response mediated by antimicrobial peptide [GO:0061844]; antimicrobial humoral response [GO:0019730]; cell chemotaxis [GO:0060326]; chemotaxis [GO:0006935]; defense response to bacterium [GO:0042742]; defense response to Gram-negative bacterium [GO:0050829]; defense response to Gram-positive bacterium [GO:0050830]; G protein-coupled receptor signaling pathway [GO:0007186]; immune response [GO:0006955]; killing of cells of other organism [GO:0031640]


uniprotID: Q15392
geneSymbol: DHCR24
reactome: R-HSA-6807047;R-HSA-6807062;
length: 516
go: ENSG00000116133;
snps: rs119475041 rs281797257 rs281797256 rs28939092
name:
Delta(24)-sterol reductase (EC 1.3.1.72) (24-dehydrocholesterol reductase) (3-beta-hydroxysterol Delta-24-reductase) (Diminuto/dwarf1 homolog) (Seladin-1)

sequence:

opentargets:
cytoplasm [GO:0005737]; endoplasmic reticulum [GO:0005783]; endoplasmic reticulum membrane [GO:0005789]; Golgi membrane [GO:0000139]; integral component of membrane [GO:0016021]; membrane [GO:0016020]; nucleus [GO:0005634]; delta24(24-1) sterol reductase activity [GO:0000246]; delta24-sterol reductase activity [GO:0050614]; enzyme binding [GO:0019899]; FAD binding [GO:0071949]; oxidoreductase activity, acting on the CH-CH group of donors, NAD or NADP as acceptor [GO:0016628]; peptide antigen binding [GO:0042605]; apoptotic process [GO:0006915]; cell cycle arrest [GO:0007050]; cholesterol biosynthetic process [GO:0006695]; cholesterol biosynthetic process via desmosterol [GO:0033489]; cholesterol biosynthetic process via lathosterol [GO:0033490]; negative regulation of apoptotic process [GO:0043066]; negative regulation of cysteine-type endopeptidase activity involved in apoptotic process [GO:0043154]; oxidation-reduction process [GO:0055114]; regulation of neuron death [GO:1901214]; response to oxidative stress [GO:0006979]; skin development [GO:0043588]; steroid metabolic process [GO:0008202]; tissue development [GO:0009888]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q15392-1; Sequence=Displayed; Name=2; IsoId=Q15392-2; Sequence=VSP_056479; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Endoplasmic reticulum membrane; Single-pass membrane protein. Golgi apparatus membrane; Single-pass membrane protein.


uniprotID: Q8NET1
geneSymbol: DEFB108B
reactome: R-HSA-1461957;R-HSA-1461973;
sequence: MRIAVLLFAIFFFMSQVLPARGKFKEICERPNGSCRDFCLETEIHVGRCLNSQPCCLPLGHQPRIESTTPKKD
length: 73
go: ENSG00000184276;
snps: rs12285436 rs12793731 rs12285495 rs7120658
location: SUBCELLULAR LOCATION: Secreted.
name:
Beta-defensin 108B (Beta-defensin 8) (BD-8) (DEFB-8) (hBD-8) (Defensin, beta 108) (Defensin, beta 108B)


uniprotID: P0DP74
geneSymbol: DEFB130A
reactome: R-HSA-1461957;R-HSA-1461973;
name: Beta-defensin 130A (Beta-defensin 130) (Beta-defensin 30) (DEFB-30) (Defensin, beta 130)
sequence: MKLHSLISVLLLFVTLIPKGKTGVIPGQKQCIALKGVCRDKLCSTLDDTIGICNEGKKCCRRWWILEPYPTPVPKGKSP
length: 79
location: SUBCELLULAR LOCATION: Secreted {ECO:0000305}.
opentargets:
extracellular region [GO:0005576]; host cell cytosol [GO:0044164]; antimicrobial humoral immune response mediated by antimicrobial peptide [GO:0061844]; cytolysis by host of symbiont cells [GO:0051838]; defense response to bacterium [GO:0042742]; defense response to protozoan [GO:0042832]


uniprotID: A6NHG4
geneSymbol: DDTL
name: D-dopachrome decarboxylase-like protein (EC 4.1.1.-) (D-dopachrome tautomerase-like protein)
length: 134
go: ENSG00000099974;
opentargets: cytoplasm [GO:0005737]; extracellular exosome [GO:0070062]; lyase activity [GO:0016829]
location: SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250}.
sequence:
MPFLELDTNLPANRVPAGLEKRLCAAAASILGKPADRVNVTVRPGLAMALSGSTEPCAQLSISSIGVVGTAEDNRSHSAHFFEFLTKELALGQDRFPTVLSTSPAAHGGPRCPGEIIEGKKSCLNEEALFIYFI


uniprotID: Q13206
geneSymbol: DDX10
pdb: 2PL3;
name: Probable ATP-dependent RNA helicase DDX10 (EC 3.6.4.13) (DEAD box protein 10)
length: 875
go: ENSG00000178105;
sequence:

opentargets:
ATP binding [GO:0005524]; RNA binding [GO:0003723]; RNA helicase activity [GO:0003724]; anterior head development [GO:0097065]


uniprotID: Q96GQ7
geneSymbol: DDX27
name: Probable ATP-dependent RNA helicase DDX27 (EC 3.6.4.13) (DEAD box protein 27)
length: 796
go: ENSG00000124228;
snps: rs1130146
sequence:

opentargets:
chromosome [GO:0005694]; nucleolus [GO:0005730]; ATP binding [GO:0005524]; helicase activity [GO:0004386]; RNA binding [GO:0003723]; rRNA processing [GO:0006364]

location:
SUBCELLULAR LOCATION: Nucleus, nucleolus {ECO:0000269|PubMed:25825154}. Chromosome {ECO:0000269|PubMed:20813266}. Note=Associates with 60S and 90S pre-ribosomal particles (PubMed:25825154). {ECO:0000269|PubMed:25825154}.


uniprotID: Q92499
geneSymbol: DDX1
reactome: R-HSA-6784531;
pdb: 4XW3;
length: 740
go: ENSG00000079785;
name:
ATP-dependent RNA helicase DDX1 (EC 3.6.4.13) (DEAD box protein 1) (DEAD box protein retinoblastoma) (DBP-RB)

sequence:

opentargets:
cleavage body [GO:0071920]; cytoplasm [GO:0005737]; cytoplasmic stress granule [GO:0010494]; cytosol [GO:0005829]; membrane [GO:0016020]; mitochondrion [GO:0005739]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; ribonucleoprotein complex [GO:1990904]; tRNA-splicing ligase complex [GO:0072669]; ATP binding [GO:0005524]; ATP-dependent helicase activity [GO:0008026]; chromatin binding [GO:0003682]; DNA binding [GO:0003677]; DNA/RNA helicase activity [GO:0033677]; double-stranded RNA binding [GO:0003725]; exonuclease activity [GO:0004527]; nuclease activity [GO:0004518]; poly(A) binding [GO:0008143]; RNA binding [GO:0003723]; RNA helicase activity [GO:0003724]; transcription coregulator activity [GO:0003712]; defense response to virus [GO:0051607]; DNA duplex unwinding [GO:0032508]; double-strand break repair [GO:0006302]; innate immune response [GO:0045087]; multicellular organism development [GO:0007275]; nucleic acid phosphodiester bond hydrolysis [GO:0090305]; positive regulation of I-kappaB kinase/NF-kappaB signaling [GO:0043123]; positive regulation of myeloid dendritic cell cytokine production [GO:0002735]; protein localization to cytoplasmic stress granule [GO:1903608]; regulation of translational initiation [GO:0006446]; response to exogenous dsRNA [GO:0043330]; spliceosomal complex assembly [GO:0000245]; tRNA splicing, via endonucleolytic cleavage and ligation [GO:0006388]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q92499-1; Sequence=Displayed; Name=2; IsoId=Q92499-2; Sequence=VSP_055454, VSP_055455; Note=No experimental confirmation available.; Name=3; IsoId=Q92499-3; Sequence=VSP_055453; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Nucleus. Cytoplasm. Cytoplasmic granule. Cytoplasm, cytosol {ECO:0000250|UniProtKB:Q91VR5}. Mitochondrion {ECO:0000250|UniProtKB:Q91VR5}. Note=Localized with MBNL1, TIAL1 and YBX1 in stress granules upon stress. Localized with CSTF2 in cleavage bodies. Forms large aggregates called DDX1 bodies. Relocalized into multiple foci (IR-induced foci or IRIF) after IR treatment, a process that depends on the presence of chromosomal DNA and/or RNA-DNA duplexes. Relocalized at sites of DNA double-strand breaks (DSBs) in an ATM-dependent manner after IR treatment. Colocalized with RELA in the nucleus upon TNF-alpha induction. Enters into the nucleus in case of active transcription while it accumulates in cytosol when transcription level is low (PubMed:24608264). Colocalizes in the cytosol with DDX21, DHX36 and TICAM1. Colocalizes in the mitochondria with TICAM1 and poly(I:C) RNA ligand. The multi-helicase-TICAM1 complex may translocate to the mitochondria upon poly(I:C) stimulation (By similarity). {ECO:0000250|UniProtKB:Q91VR5, ECO:0000269|PubMed:24608264}.; SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:20573827}. Note=(Microbial infection) Relocalized to the cytoplasm with a perinuclear staining pattern in avian infectious bronchitis virus (IBV)-infected cells (PubMed:20573827). Required for proper localization of HIV-1 Rev (PubMed:15567440). {ECO:0000269|PubMed:15567440, ECO:0000269|PubMed:20573827}.


uniprotID: O15523
geneSymbol: DDX3Y
name: ATP-dependent RNA helicase DDX3Y (EC 3.6.4.13) (DEAD box protein 3, Y-chromosomal)
length: 660
go: ENSG00000067048;
sequence:

opentargets:
cytosol [GO:0005829]; membrane [GO:0016020]; nucleus [GO:0005634]; ATP binding [GO:0005524]; DNA binding [GO:0003677]; helicase activity [GO:0004386]; RNA binding [GO:0003723]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=O15523-1; Sequence=Displayed; Name=2; IsoId=O15523-2; Sequence=VSP_055456; Note=No experimental confirmation available.; Name=3; IsoId=O15523-3; Sequence=VSP_055457, VSP_055458; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:15383328}. Nucleus {ECO:0000269|PubMed:15383328}. Note=Shuttles between the nucleus and the cytoplasm in an XPO1-dependent manner.


uniprotID: Q9NR30
geneSymbol: DDX21
reactome: R-HSA-5250924;R-HSA-6791226;
pdb: 2M3D;
length: 783
go: ENSG00000165732;
snps: rs17556220
name:
Nucleolar RNA helicase 2 (EC 3.6.4.13) (DEAD box protein 21) (Gu-alpha) (Nucleolar RNA helicase Gu) (Nucleolar RNA helicase II) (RH II/Gu)

sequence:

opentargets:
cytosol [GO:0005829]; membrane [GO:0016020]; mitochondrion [GO:0005739]; nucleolus [GO:0005730]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; 7SK snRNA binding [GO:0097322]; ATP binding [GO:0005524]; ATP-dependent RNA helicase activity [GO:0004004]; double-stranded RNA binding [GO:0003725]; identical protein binding [GO:0042802]; miRNA binding [GO:0035198]; RNA binding [GO:0003723]; rRNA binding [GO:0019843]; snoRNA binding [GO:0030515]; defense response to virus [GO:0051607]; innate immune response [GO:0045087]; osteoblast differentiation [GO:0001649]; positive regulation of gene expression, epigenetic [GO:0045815]; positive regulation of I-kappaB kinase/NF-kappaB signaling [GO:0043123]; positive regulation of myeloid dendritic cell cytokine production [GO:0002735]; response to exogenous dsRNA [GO:0043330]; rRNA processing [GO:0006364]; transcription by RNA polymerase II [GO:0006366]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9NR30-1; Sequence=Displayed; Name=2; IsoId=Q9NR30-2; Sequence=VSP_015716; 

location:
SUBCELLULAR LOCATION: Nucleus, nucleolus {ECO:0000269|PubMed:11823437, ECO:0000269|PubMed:18180292, ECO:0000269|PubMed:23848194, ECO:0000269|PubMed:25260534, ECO:0000269|PubMed:25470060, ECO:0000269|PubMed:8614622}. Nucleus, nucleoplasm {ECO:0000269|PubMed:11823437, ECO:0000269|PubMed:18180292, ECO:0000269|PubMed:25260534, ECO:0000269|PubMed:25470060}. Cytoplasm, cytosol {ECO:0000250|UniProtKB:Q9JIK5}. Mitochondrion {ECO:0000250|UniProtKB:Q9JIK5}. Note=Present both in nucleolus and nucleoplasm. Interaction with JUN promotes translocation from the nucleolus to the nucleoplasm (PubMed:11823437, PubMed:18180292). Interaction with WDR46 is required for localization to the nucleolus (PubMed:23848194). Colocalizes in the cytosol with DDX1, DHX36 and TICAM1. The multi-helicase-TICAM1 complex may translocate to the mitochondria upon poly(I:C) RNA ligand stimulation (By similarity). {ECO:0000250|UniProtKB:Q9JIK5, ECO:0000269|PubMed:11823437, ECO:0000269|PubMed:18180292, ECO:0000269|PubMed:23848194}.


uniprotID: Q9UJV9
geneSymbol: DDX41
reactome: R-HSA-1834941;R-HSA-3134975;R-HSA-3270619;
pdb: 2P6N;5GVR;5GVS;5H1Y;
length: 622
go: ENSG00000183258;
snps: rs142143752 rs747072227 rs869312828
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:26712909}.
name:
Probable ATP-dependent RNA helicase DDX41 (EC 3.6.4.13) (DEAD box protein 41) (DEAD box protein abstrakt homolog)

sequence:

opentargets:
catalytic step 2 spliceosome [GO:0071013]; cytosol [GO:0005829]; endoplasmic reticulum [GO:0005783]; membrane [GO:0016020]; nucleus [GO:0005634]; ATP binding [GO:0005524]; DNA binding [GO:0003677]; helicase activity [GO:0004386]; metal ion binding [GO:0046872]; RNA binding [GO:0003723]; apoptotic process [GO:0006915]; cell differentiation [GO:0030154]; cell proliferation [GO:0008283]; cellular response to interferon-beta [GO:0035458]; defense response to virus [GO:0051607]; mRNA splicing, via spliceosome [GO:0000398]; positive regulation of transcription by RNA polymerase II [GO:0045944]; positive regulation of type I interferon production [GO:0032481]


uniprotID: Q9NY93
geneSymbol: DDX56
length: 547
go: ENSG00000136271;
location: SUBCELLULAR LOCATION: Nucleus, nucleolus {ECO:0000269|PubMed:12429849}.
name:
Probable ATP-dependent RNA helicase DDX56 (EC 3.6.4.13) (ATP-dependent 61 kDa nucleolar RNA helicase) (DEAD box protein 21) (DEAD box protein 56)

sequence:

opentargets:
membrane [GO:0016020]; nucleolus [GO:0005730]; ATP binding [GO:0005524]; ATP-dependent RNA helicase activity [GO:0004004]; RNA binding [GO:0003723]; positive regulation of neuron projection development [GO:0010976]; rRNA processing [GO:0006364]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9NY93-1; Sequence=Displayed; Name=2; IsoId=Q9NY93-2; Sequence=VSP_044869; Note=No experimental confirmation available.; 


uniprotID: Q8WXF8
geneSymbol: DEDD2
length: 326
go: ENSG00000160570;
name:
DNA-binding death effector domain-containing protein 2 (DED-containing protein FLAME-3) (FADD-like anti-apoptotic molecule 3)

sequence:

opentargets:
nucleolus [GO:0005730]; DNA binding [GO:0003677]; receptor signaling complex scaffold activity [GO:0030159]; apoptotic nuclear changes [GO:0030262]; cellular homeostasis [GO:0019725]; extrinsic apoptotic signaling pathway via death domain receptors [GO:0008625]; intracellular signal transduction [GO:0035556]; negative regulation of transcription, DNA-templated [GO:0045892]; positive regulation of extrinsic apoptotic signaling pathway [GO:2001238]; RNA processing [GO:0006396]; rRNA catabolic process [GO:0016075]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q8WXF8-1; Sequence=Displayed; Name=2; IsoId=Q8WXF8-2; Sequence=VSP_010312; 

location:
SUBCELLULAR LOCATION: Nucleus, nucleolus {ECO:0000269|PubMed:11965497}. Note=Nuclear, accumulated in subnuclear structures resembling nucleoli.


uniprotID: O15121
geneSymbol: DEGS1
reactome: R-HSA-1660661;R-HSA-6798695;
length: 323
go: ENSG00000143753;
name:
Sphingolipid delta(4)-desaturase DES1 (EC 1.14.19.17) (Cell migration-inducing gene 15 protein) (Degenerative spermatocyte homolog 1) (Membrane lipid desaturase)

sequence:

opentargets:
endoplasmic reticulum [GO:0005783]; endoplasmic reticulum membrane [GO:0005789]; integral component of plasma membrane [GO:0005887]; membrane [GO:0016020]; mitochondrion [GO:0005739]; plasma membrane [GO:0005886]; specific granule membrane [GO:0035579]; electron transfer activity [GO:0009055]; sphingolipid delta-4 desaturase activity [GO:0042284]; ceramide biosynthetic process [GO:0046513]; neutrophil degranulation [GO:0043312]; sphingolipid biosynthetic process [GO:0030148]; unsaturated fatty acid biosynthetic process [GO:0006636]

location:
SUBCELLULAR LOCATION: Mitochondrion {ECO:0000269|PubMed:19647031}. Endoplasmic reticulum membrane {ECO:0000269|PubMed:19647031, ECO:0000269|PubMed:9188692}; Multi-pass membrane protein {ECO:0000269|PubMed:19647031, ECO:0000269|PubMed:9188692}. Membrane {ECO:0000305}; Lipid-anchor {ECO:0000305}.


uniprotID: Q08495
geneSymbol: DMTN
reactome: R-HSA-5223345;
pdb: 1QZP;1ZV6;
name: Dematin (Dematin actin-binding protein) (Erythrocyte membrane protein band 4.9)
length: 405
go: ENSG00000158856;
sequence:

opentargets:
actin cytoskeleton [GO:0015629]; actin filament [GO:0005884]; cell projection membrane [GO:0031253]; cortical cytoskeleton [GO:0030863]; cytoplasmic vesicle [GO:0031410]; cytosol [GO:0005829]; endomembrane system [GO:0012505]; perinuclear region of cytoplasm [GO:0048471]; plasma membrane [GO:0005886]; platelet dense tubular network membrane [GO:0031095]; postsynaptic density [GO:0014069]; spectrin-associated cytoskeleton [GO:0014731]; actin binding [GO:0003779]; actin filament binding [GO:0051015]; protein self-association [GO:0043621]; signaling receptor binding [GO:0005102]; spectrin binding [GO:0030507]; actin cytoskeleton organization [GO:0030036]; actin filament bundle assembly [GO:0051017]; actin filament capping [GO:0051693]; actin filament reorganization [GO:0090527]; calcium-mediated signaling using extracellular calcium source [GO:0035585]; calcium-mediated signaling using intracellular calcium source [GO:0035584]; cellular response to calcium ion [GO:0071277]; cellular response to cAMP [GO:0071320]; cytoskeleton organization [GO:0007010]; erythrocyte development [GO:0048821]; lamellipodium assembly [GO:0030032]; negative regulation of cell-substrate adhesion [GO:0010812]; negative regulation of focal adhesion assembly [GO:0051895]; negative regulation of peptidyl-serine phosphorylation [GO:0033137]; negative regulation of peptidyl-threonine phosphorylation [GO:0010801]; negative regulation of peptidyl-tyrosine phosphorylation [GO:0050732]; negative regulation of protein targeting to membrane [GO:0090315]; negative regulation of substrate adhesion-dependent cell spreading [GO:1900025]; positive regulation of blood coagulation [GO:0030194]; positive regulation of fibroblast migration [GO:0010763]; positive regulation of integrin-mediated signaling pathway [GO:2001046]; positive regulation of platelet aggregation [GO:1901731]; positive regulation of substrate adhesion-dependent cell spreading [GO:1900026]; positive regulation of wound healing [GO:0090303]; protein secretion by platelet [GO:0070560]; protein-containing complex assembly [GO:0065003]; regulation of actin cytoskeleton organization [GO:0032956]; regulation of cell shape [GO:0008360]; regulation of filopodium assembly [GO:0051489]; regulation of lamellipodium assembly [GO:0010591]; transmembrane transport [GO:0055085]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; Synonyms=Long; IsoId=Q08495-1; Sequence=Displayed; Name=2; Synonyms=Short; IsoId=Q08495-2; Sequence=VSP_004189; Name=3; IsoId=Q08495-3; Sequence=VSP_044803, VSP_004189; Note=No experimental confirmation available.; Name=4; IsoId=Q08495-4; Sequence=VSP_044803, VSP_057428; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasm. Cytoplasm, cytosol. Cytoplasm, perinuclear region {ECO:0000250}. Cytoplasm, cytoskeleton. Cell membrane. Membrane {ECO:0000250}. Endomembrane system. Cell projection {ECO:0000250}. Note=Localized at the spectrin-actin junction of erythrocyte plasma membrane. Localized to intracellular membranes and the cytoskeletal network. Localized at intracellular membrane-bounded organelle compartment in platelets that likely represent the dense tubular network membrane. Detected at the cell membrane and at the parasitophorous vacuole in malaria-infected erythrocytes at late stages of plasmodium berghei or falciparum development.


uniprotID: Q8TEH3
geneSymbol: DENND1A
reactome: R-HSA-8876198;
name: DENN domain-containing protein 1A (Connecdenn 1) (Connecdenn) (Protein FAM31A)
length: 1009
go: ENSG00000119522;
sequence:

opentargets:
cell junction [GO:0030054]; clathrin-coated vesicle [GO:0030136]; clathrin-coated vesicle membrane [GO:0030665]; cytosol [GO:0005829]; dendrite [GO:0030425]; intracellular membrane-bounded organelle [GO:0043231]; neuronal cell body [GO:0043025]; nucleoplasm [GO:0005654]; presynaptic membrane [GO:0042734]; phosphatidylinositol phosphate binding [GO:1901981]; phosphatidylinositol-3-phosphate binding [GO:0032266]; Rab GTPase binding [GO:0017137]; Rab guanyl-nucleotide exchange factor activity [GO:0017112]; SH3 domain binding [GO:0017124]; endocytic recycling [GO:0032456]; endocytosis [GO:0006897]; positive regulation of GTPase activity [GO:0043547]; protein transport [GO:0015031]; regulation of Rab protein signal transduction [GO:0032483]; synaptic vesicle endocytosis [GO:0048488]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=7;  Name=1; IsoId=Q8TEH3-1; Sequence=Displayed; Name=2; IsoId=Q8TEH3-2; Sequence=VSP_019464, VSP_019465; Name=3; IsoId=Q8TEH3-3; Sequence=VSP_034513, VSP_034514; Name=4; IsoId=Q8TEH3-4; Sequence=VSP_034509, VSP_034512, VSP_034513, VSP_034514; Name=5; IsoId=Q8TEH3-5; Sequence=VSP_034510, VSP_034511, VSP_019464, VSP_019465; Name=6; IsoId=Q8TEH3-6; Sequence=VSP_034509, VSP_040666, VSP_040668; Note=No experimental confirmation available.; Name=7; IsoId=Q8TEH3-7; Sequence=VSP_040667, VSP_040668; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasmic vesicle, clathrin-coated vesicle membrane {ECO:0000269|PubMed:20154091, ECO:0000269|PubMed:20937701}; Peripheral membrane protein {ECO:0000269|PubMed:20937701}. Cell junction, synapse, presynaptic cell membrane {ECO:0000269|PubMed:20937701}. Note=Associates to membranes via lipid-binding activity. {ECO:0000250|UniProtKB:Q8K382}.


uniprotID: Q14154
geneSymbol: DELE1
name: DAP3-binding cell death enhancer 1 (Death ligand signal enhancer)
length: 515
go: ENSG00000081791;
snps: rs34438707 rs17850821 rs10036567 rs351260 rs10056676
location: SUBCELLULAR LOCATION: Mitochondrion {ECO:0000269|PubMed:20563667}.
sequence:

opentargets:
mitochondrion [GO:0005739]; extrinsic apoptotic signaling pathway via death domain receptors [GO:0008625]; regulation of cysteine-type endopeptidase activity involved in apoptotic process [GO:0043281]


uniprotID: Q9Y315
geneSymbol: DERA
reactome: R-HSA-6798695;R-HSA-71336;
length: 318
go: ENSG00000023697;
name:
Deoxyribose-phosphate aldolase (DERA) (EC 4.1.2.4) (2-deoxy-D-ribose 5-phosphate aldolase) (Phosphodeoxyriboaldolase) (Deoxyriboaldolase)

sequence:

opentargets:
cytosol [GO:0005829]; extracellular region [GO:0005576]; ficolin-1-rich granule lumen [GO:1904813]; nucleus [GO:0005634]; secretory granule lumen [GO:0034774]; deoxyribose-phosphate aldolase activity [GO:0004139]; carbohydrate catabolic process [GO:0016052]; deoxyribonucleoside catabolic process [GO:0046121]; deoxyribonucleotide catabolic process [GO:0009264]; deoxyribose phosphate catabolic process [GO:0046386]; neutrophil degranulation [GO:0043312]; pentose-phosphate shunt [GO:0006098]

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:25229427}. Cytoplasmic granule {ECO:0000269|PubMed:25229427}. Nucleus {ECO:0000269|PubMed:25229427}. Note=Recruited to stress granules but not to processing bodies upon arsenite or clotrimazole treatment or energy deprivation. {ECO:0000269|PubMed:25229427}.


uniprotID: Q96Q80
geneSymbol: DERL3
reactome: R-HSA-382556;R-HSA-5678895;
name: Derlin-3 (Degradation in endoplasmic reticulum protein 3) (DERtrin-3) (Der1-like protein 3)
length: 235
go: ENSG00000099958;
snps: rs3177243 rs1128127
sequence:

opentargets:
integral component of endoplasmic reticulum membrane [GO:0030176]; endoplasmic reticulum unfolded protein response [GO:0030968]; negative regulation of retrograde protein transport, ER to cytosol [GO:1904153]; protein N-linked glycosylation via asparagine [GO:0018279]; ubiquitin-dependent ERAD pathway [GO:0030433]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=5;  Name=1; IsoId=Q96Q80-1; Sequence=Displayed; Name=2; IsoId=Q96Q80-2; Sequence=VSP_011088; Note=No experimental confirmation available.; Name=3; IsoId=Q96Q80-3; Sequence=VSP_011089; Note=No experimental confirmation available.; Name=4; IsoId=Q96Q80-4; Sequence=VSP_011086, VSP_011087; Note=No experimental confirmation available.; Name=5; IsoId=Q96Q80-5; Sequence=VSP_046330; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Endoplasmic reticulum membrane {ECO:0000269|PubMed:16449189}; Multi-pass membrane protein {ECO:0000269|PubMed:16449189}.


uniprotID: Q9BTE1
geneSymbol: DCTN5
reactome: R-HSA-2132295;R-HSA-3371497;R-HSA-6807878;R-HSA-6811436;
pdb: 5NW4;
name: Dynactin subunit 5 (Dynactin subunit p25)
length: 182
go: ENSG00000166847;
sequence:
MELGELLYNKSEYIETASGNKVSRQSVLCGSQNIVLNGKTIVMNDCIIRGDLANVRVGRHCVVKSRSVIRPPFKKFSKGVAFFPLHIGDHVFIEEDCVVNAAQIGSYVHVGKNCVIGRRCVLKDCCKILDNTVLPPETVVPPFTVFSGCPGLFSGELPECTQELMIDVTKSYYQKFLPLTQV

opentargets:
centrosome [GO:0005813]; condensed chromosome kinetochore [GO:0000777]; cytosol [GO:0005829]; nuclear membrane [GO:0031965]; nucleoplasm [GO:0005654]; antigen processing and presentation of exogenous peptide antigen via MHC class II [GO:0019886]; aorta development [GO:0035904]; coronary vasculature development [GO:0060976]; ER to Golgi vesicle-mediated transport [GO:0006888]; ventricular septum development [GO:0003281]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q9BTE1-1; Sequence=Displayed; Name=2; IsoId=Q9BTE1-2; Sequence=VSP_046023; Note=No experimental confirmation available.; Name=3; IsoId=Q9BTE1-3; Sequence=VSP_046697; 

location:
SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton {ECO:0000250}. Chromosome, centromere, kinetochore {ECO:0000269|PubMed:23455152}.


uniprotID: Q9H773
geneSymbol: DCTPP1
reactome: R-HSA-499943;
length: 170
go: ENSG00000179958;
name:
dCTP pyrophosphatase 1 (EC 3.6.1.12) (Deoxycytidine-triphosphatase 1) (dCTPase 1) (RS21C6) (XTP3-transactivated gene A protein)

sequence:
MSVAGGEIRGDTGGEDTAAPGRFSFSPEPTLEDIRRLHAEFAAERDWEQFHQPRNLLLALVGEVGELAELFQWKTDGEPGPQGWSPRERAALQEELSDVLIYLVALAARCRVDLPLAVLSKMDINRRRYPAHLARSSSRKYTELPHGAISEDQAVGPADIPCDSTGQTST

opentargets:
cytosol [GO:0005829]; mitochondrion [GO:0005739]; nucleus [GO:0005634]; dCTP diphosphatase activity [GO:0047840]; identical protein binding [GO:0042802]; magnesium ion binding [GO:0000287]; nucleoside-triphosphate diphosphatase activity [GO:0047429]; pyrimidine deoxyribonucleotide binding [GO:0032556]; dCTP catabolic process [GO:0006253]; DNA protection [GO:0042262]; nucleoside triphosphate catabolic process [GO:0009143]; protein homotetramerization [GO:0051289]

location:
SUBCELLULAR LOCATION: Mitochondrion {ECO:0000269|PubMed:24467396}. Nucleus {ECO:0000269|PubMed:24467396}. Cytoplasm, cytosol {ECO:0000269|PubMed:24467396}.


uniprotID: Q16832
geneSymbol: DDR2
reactome: R-HSA-3000171;
pdb: 2WUH;2Z4F;
length: 855
go: ENSG00000162733;
drug: DB08896;
snps: rs397514747 rs34722354 rs34869543 rs55973200 rs121964865 rs121964864 rs121964863
name:
Discoidin domain-containing receptor 2 (Discoidin domain receptor 2) (EC 2.7.10.1) (CD167 antigen-like family member B) (Discoidin domain-containing receptor tyrosine kinase 2) (Neurotrophic tyrosine kinase, receptor-related 3) (Receptor protein-tyrosine kinase TKT) (Tyrosine-protein kinase TYRO10) (CD antigen CD167b)

sequence:

opentargets:
actin cytoskeleton [GO:0015629]; apical plasma membrane [GO:0016324]; cytoplasm [GO:0005737]; focal adhesion [GO:0005925]; integral component of plasma membrane [GO:0005887]; plasma membrane [GO:0005886]; receptor complex [GO:0043235]; ATP binding [GO:0005524]; collagen binding [GO:0005518]; protein tyrosine kinase collagen receptor activity [GO:0038062]; transmembrane receptor protein tyrosine kinase activity [GO:0004714]; transmembrane signaling receptor activity [GO:0004888]; biomineral tissue development [GO:0031214]; cell adhesion [GO:0007155]; cell differentiation [GO:0030154]; chondrocyte proliferation [GO:0035988]; collagen fibril organization [GO:0030199]; collagen-activated tyrosine kinase receptor signaling pathway [GO:0038063]; endochondral bone growth [GO:0003416]; extracellular matrix organization [GO:0030198]; negative regulation of apoptotic process [GO:0043066]; negative regulation of signal transduction [GO:0009968]; ossification [GO:0001503]; peptidyl-tyrosine phosphorylation [GO:0018108]; positive regulation of DNA-binding transcription factor activity [GO:0051091]; positive regulation of ERK1 and ERK2 cascade [GO:0070374]; positive regulation of extracellular matrix disassembly [GO:0090091]; positive regulation of fibroblast migration [GO:0010763]; positive regulation of fibroblast proliferation [GO:0048146]; positive regulation of osteoblast differentiation [GO:0045669]; positive regulation of protein kinase activity [GO:0045860]; protein autophosphorylation [GO:0046777]; regulation of bone mineralization [GO:0030500]; regulation of extracellular matrix disassembly [GO:0010715]; signal transduction [GO:0007165]

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:18201965, ECO:0000269|PubMed:20223752, ECO:0000269|PubMed:9659899}; Single-pass type I membrane protein {ECO:0000269|PubMed:18201965, ECO:0000269|PubMed:20223752, ECO:0000269|PubMed:9659899}.


uniprotID: Q96FC9
geneSymbol: DDX11
reactome: R-HSA-381038;
length: 970
go: ENSG00000013573;
snps: rs201968272 rs2075322 rs17857386 rs1046457 rs3893679 rs1046458 rs14330
name:
ATP-dependent DNA helicase DDX11 (EC 3.6.4.12) (CHL1-related protein 1) (hCHLR1) (DEAD/H-box protein 11) (Keratinocyte growth factor-regulated gene 2 protein) (KRG-2)

sequence:

opentargets:
centrosome [GO:0005813]; cytoplasm [GO:0005737]; extracellular exosome [GO:0070062]; fibrillar center [GO:0001650]; midbody [GO:0030496]; nuclear chromatin [GO:0000790]; nucleolus [GO:0005730]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; spindle pole [GO:0000922]; 4 iron, 4 sulfur cluster binding [GO:0051539]; ATP binding [GO:0005524]; ATP-dependent DNA helicase activity [GO:0004003]; ATP-dependent helicase activity [GO:0008026]; chromatin binding [GO:0003682]; DNA binding [GO:0003677]; DNA replication origin binding [GO:0003688]; DNA-dependent ATPase activity [GO:0008094]; double-stranded DNA binding [GO:0003690]; G-quadruplex DNA binding [GO:0051880]; helicase activity [GO:0004386]; metal ion binding [GO:0046872]; RNA-dependent ATPase activity [GO:0008186]; single-stranded DNA binding [GO:0003697]; single-stranded RNA binding [GO:0003727]; triplex DNA binding [GO:0045142]; cellular response to bleomycin [GO:1904976]; cellular response to cisplatin [GO:0072719]; cellular response to DNA damage stimulus [GO:0006974]; cellular response to hydroxyurea [GO:0072711]; DNA duplex unwinding [GO:0032508]; DNA repair [GO:0006281]; establishment of sister chromatid cohesion [GO:0034085]; G-quadruplex DNA unwinding [GO:0044806]; IRE1-mediated unfolded protein response [GO:0036498]; multicellular organism development [GO:0007275]; negative regulation of protein binding [GO:0032091]; nucleolar chromatin organization [GO:1990700]; positive regulation of chromatin binding [GO:0035563]; positive regulation of double-strand break repair [GO:2000781]; positive regulation of endodeoxyribonuclease activity [GO:0032079]; positive regulation of sister chromatid cohesion [GO:0045876]; positive regulation of transcription of nucleolar large rRNA by RNA polymerase I [GO:1901838]; replication fork processing [GO:0031297]; sister chromatid cohesion [GO:0007062]; viral process [GO:0016032]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=5;  Name=1; IsoId=Q96FC9-1; Sequence=Displayed; Name=2; IsoId=Q96FC9-2; Sequence=VSP_016864, VSP_016865; Name=3; IsoId=Q96FC9-3; Sequence=VSP_016860, VSP_016864, VSP_016865; Name=4; IsoId=Q96FC9-4; Sequence=VSP_016863, VSP_016864, VSP_016865; Name=5; IsoId=Q96FC9-5; Sequence=VSP_016861, VSP_016862; 

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:17105772}. Nucleus, nucleolus {ECO:0000269|PubMed:17105772, ECO:0000269|PubMed:26089203, ECO:0000269|PubMed:9013641}. Cytoplasm, cytoskeleton, spindle pole {ECO:0000269|PubMed:17105772}. Midbody {ECO:0000269|PubMed:17105772}. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome {ECO:0000269|PubMed:17105772}. Note=During the early stages of mitosis, localizes to condensed chromatin and is released from the chromatin with progression to metaphase. Also localizes to the spindle poles throughout mitosis and at the midbody at later stages of mitosis (metaphase to telophase) (PubMed:17105772). In interphase, colocalizes with nucleolin in the nucleolus (PubMed:26089203). {ECO:0000269|PubMed:17105772, ECO:0000269|PubMed:26089203}.; SUBCELLULAR LOCATION: Chromosome {ECO:0000269|PubMed:17189189}. Note=(Microbial infection) Colocalizes with bovine papillomavirus type 1 regulatory protein E2 on mitotic chromosomes at early stages of mitosis. {ECO:0000269|PubMed:17189189}.


uniprotID: Q92841
geneSymbol: DDX17
reactome: R-HSA-3899300;
length: 729
go: ENSG00000100201;
name:
Probable ATP-dependent RNA helicase DDX17 (EC 3.6.4.13) (DEAD box protein 17) (DEAD box protein p72) (DEAD box protein p82) (RNA-dependent helicase p72)

sequence:

opentargets:
cytosol [GO:0005829]; membrane [GO:0016020]; nuclear speck [GO:0016607]; nucleolus [GO:0005730]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; ATP binding [GO:0005524]; RNA binding [GO:0003723]; RNA helicase activity [GO:0003724]; RNA-dependent ATPase activity [GO:0008186]; transcription coactivator activity [GO:0003713]; alternative mRNA splicing, via spliceosome [GO:0000380]; androgen receptor signaling pathway [GO:0030521]; defense response to virus [GO:0051607]; epithelial to mesenchymal transition [GO:0001837]; gene silencing by RNA [GO:0031047]; intracellular estrogen receptor signaling pathway [GO:0030520]; miRNA metabolic process [GO:0010586]; myoblast differentiation [GO:0045445]; positive regulation of transcription by RNA polymerase II [GO:0045944]; regulation of alternative mRNA splicing, via spliceosome [GO:0000381]; regulation of skeletal muscle cell differentiation [GO:2001014]; regulation of transcription by RNA polymerase II [GO:0006357]; RNA processing [GO:0006396]; rRNA processing [GO:0006364]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing, Alternative initiation; Named isoforms=4;  Name=1; Synonyms=p82; IsoId=Q92841-4; Sequence=Displayed; Note=Starts at an alternative CUG codon.; Name=2; Synonyms=p72; IsoId=Q92841-1; Sequence=VSP_042527; Note=Produced by alternative initiation at Met-80 of isoform 1.; Name=3; IsoId=Q92841-2; Sequence=VSP_042527, VSP_042528; Note=Produced by alternative splicing of isoform 2. No experimental confirmation available.; Name=4; IsoId=Q92841-3; Sequence=VSP_042527, VSP_042529; Note=Produced by alternative splicing of isoform 2. No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:12138182, ECO:0000269|PubMed:12595555, ECO:0000269|PubMed:17226766, ECO:0000269|PubMed:17699760, ECO:0000269|PubMed:19995069, ECO:0000269|PubMed:22002106, ECO:0000269|PubMed:24581491, ECO:0000269|PubMed:25126784}. Nucleus, nucleolus {ECO:0000269|PubMed:17226766, ECO:0000269|PubMed:22002106}. Cytoplasm, cytosol {ECO:0000269|PubMed:25126784}. Note=In the course of bunyavirus infection, relocalizes from the nucleus to the cytosol where it binds viral RNA to antagonize replication. {ECO:0000269|PubMed:25126784}.


uniprotID: Q9NVP1
geneSymbol: DDX18
pdb: 3LY5;
length: 670
go: ENSG00000088205;
snps: rs1052637 rs10179772
name:
ATP-dependent RNA helicase DDX18 (EC 3.6.4.13) (DEAD box protein 18) (Myc-regulated DEAD box protein) (MrDb)

sequence:

opentargets:
chromosome [GO:0005694]; membrane [GO:0016020]; nucleolus [GO:0005730]; ATP binding [GO:0005524]; ATP-dependent RNA helicase activity [GO:0004004]; RNA binding [GO:0003723]; cellular response to estradiol stimulus [GO:0071392]

location:
SUBCELLULAR LOCATION: Nucleus, nucleolus {ECO:0000269|PubMed:16963496}. Chromosome {ECO:0000269|PubMed:20813266}.


uniprotID: Q9H8H2
geneSymbol: DDX31
name: Probable ATP-dependent RNA helicase DDX31 (EC 3.6.4.13) (DEAD box protein 31) (Helicain)
length: 851
go: ENSG00000125485;
snps: rs17402080 rs34246652 rs306547 rs306548
sequence:

opentargets:
Golgi apparatus [GO:0005794]; intracellular membrane-bounded organelle [GO:0043231]; nucleolus [GO:0005730]; ATP binding [GO:0005524]; helicase activity [GO:0004386]; RNA binding [GO:0003723]; ribosome biogenesis [GO:0042254]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; Synonyms=Helicain B; IsoId=Q9H8H2-1; Sequence=Displayed; Name=2; Synonyms=Helicain C; IsoId=Q9H8H2-2; Sequence=VSP_014790; Note=No experimental confirmation available.; Name=3; Synonyms=Helicain A; IsoId=Q9H8H2-3; Sequence=VSP_014787, VSP_014788; Name=4; IsoId=Q9H8H2-4; Sequence=VSP_014789; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Nucleus, nucleolus {ECO:0000269|PubMed:12429849, ECO:0000269|PubMed:23019224}. Note=Colocalized with NPM1 in the nucleoli. {ECO:0000269|PubMed:23019224}.


uniprotID: O00571
geneSymbol: DDX3X
reactome: R-HSA-6798695;
pdb: 2I4I;2JGN;3JRV;4O2C;4O2E;4O2F;4PX9;4PXA;5E7I;5E7J;5E7M;6CZ5;
length: 662
go: ENSG00000215301;
name:
ATP-dependent RNA helicase DDX3X (EC 3.6.4.13) (DEAD box protein 3, X-chromosomal) (DEAD box, X isoform) (Helicase-like protein 2) (HLP2)

sequence:

opentargets:
cytoplasm [GO:0005737]; cytoplasmic stress granule [GO:0010494]; cytosol [GO:0005829]; extracellular exosome [GO:0070062]; extracellular region [GO:0005576]; ficolin-1-rich granule lumen [GO:1904813]; mitochondrial outer membrane [GO:0005741]; nuclear speck [GO:0016607]; nucleus [GO:0005634]; secretory granule lumen [GO:0034774]; ATP binding [GO:0005524]; ATP-dependent DNA helicase activity [GO:0004003]; ATP-dependent RNA helicase activity [GO:0004004]; ATPase activity [GO:0016887]; cadherin binding [GO:0045296]; CTPase activity [GO:0043273]; DNA binding [GO:0003677]; eukaryotic initiation factor 4E binding [GO:0008190]; GTPase activity [GO:0003924]; mRNA 5'-UTR binding [GO:0048027]; nucleoside-triphosphatase activity [GO:0017111]; poly(A) binding [GO:0008143]; protein serine/threonine kinase activator activity [GO:0043539]; ribosomal small subunit binding [GO:0043024]; RNA binding [GO:0003723]; RNA stem-loop binding [GO:0035613]; RNA strand annealing activity [GO:0033592]; transcription factor binding [GO:0008134]; translation initiation factor binding [GO:0031369]; cellular response to arsenic-containing substance [GO:0071243]; cellular response to osmotic stress [GO:0071470]; chromosome segregation [GO:0007059]; extrinsic apoptotic signaling pathway via death domain receptors [GO:0008625]; innate immune response [GO:0045087]; intracellular signal transduction [GO:0035556]; intrinsic apoptotic signaling pathway [GO:0097193]; mature ribosome assembly [GO:0042256]; negative regulation of apoptotic process [GO:0043066]; negative regulation of cell growth [GO:0030308]; negative regulation of cysteine-type endopeptidase activity involved in apoptotic process [GO:0043154]; negative regulation of intrinsic apoptotic signaling pathway [GO:2001243]; negative regulation of protein complex assembly [GO:0031333]; negative regulation of translation [GO:0017148]; neutrophil degranulation [GO:0043312]; positive regulation of apoptotic process [GO:0043065]; positive regulation of canonical Wnt signaling pathway [GO:0090263]; positive regulation of cell growth [GO:0030307]; positive regulation of chemokine (C-C motif) ligand 5 production [GO:0071651]; positive regulation of cysteine-type endopeptidase activity involved in apoptotic process [GO:0043280]; positive regulation of G1/S transition of mitotic cell cycle [GO:1900087]; positive regulation of gene expression [GO:0010628]; positive regulation of interferon-beta production [GO:0032728]; positive regulation of protein serine/threonine kinase activity [GO:0071902]; positive regulation of transcription by RNA polymerase II [GO:0045944]; positive regulation of translation [GO:0045727]; positive regulation of translational initiation [GO:0045948]; positive regulation of viral genome replication [GO:0045070]; protein localization to cytoplasmic stress granule [GO:1903608]; response to virus [GO:0009615]; RNA secondary structure unwinding [GO:0010501]; stress granule assembly [GO:0034063]; translational initiation [GO:0006413]; viral process [GO:0016032]; Wnt signaling pathway [GO:0016055]

snps:
rs796052223 rs796052224 rs797045025 rs1057518707 rs797045026 rs796052231 rs796052232 rs796052233 rs1064794574 rs796052235 rs797045024 rs796052226 rs1057519430 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=O00571-1; Sequence=Displayed; Name=2; IsoId=O00571-2; Sequence=VSP_042830; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Nucleus speckle. Cytoplasm. Mitochondrion outer membrane. Note=Located predominantly in nuclear speckles and, at low levels, throughout the cytoplasm. Located to the outer side of nuclear pore complexes (NPC). Shuttles between the nucleus and the cytoplasm in a XPO1 and may be also in a NFX1-dependent manner. Associated with polyadenylated mRNAs in the cytoplasm and the nucleus. Predominantly located in nucleus during G(0) phase and in the cytoplasm during G1/S phase.


uniprotID: Q9UHI6
geneSymbol: DDX20
reactome: R-HSA-191859;
pdb: 2OXC;3B7G;
length: 824
go: ENSG00000064703;
snps: rs197412 rs197414 rs85276
name:
Probable ATP-dependent RNA helicase DDX20 (EC 3.6.4.13) (Component of gems 3) (DEAD box protein 20) (DEAD box protein DP 103) (Gemin-3)

sequence:

opentargets:
cytoplasm [GO:0005737]; cytoskeleton [GO:0005856]; cytosol [GO:0005829]; Gemini of coiled bodies [GO:0097504]; membrane [GO:0016020]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; RNA polymerase II transcription repressor complex [GO:0090571]; SMN complex [GO:0032797]; SMN-Sm protein complex [GO:0034719]; ATP binding [GO:0005524]; ATP-dependent RNA helicase activity [GO:0004004]; DNA binding [GO:0003677]; histone deacetylase binding [GO:0042826]; protein binding, bridging [GO:0030674]; protein domain specific binding [GO:0019904]; repressing transcription factor binding [GO:0070491]; import into nucleus [GO:0051170]; negative regulation of cell proliferation [GO:0008285]; negative regulation of transcription by RNA polymerase II [GO:0000122]; oogenesis [GO:0048477]; positive regulation of apoptotic process [GO:0043065]; regulation of steroid biosynthetic process [GO:0050810]; RNA processing [GO:0006396]; spliceosomal snRNP assembly [GO:0000387]; spliceosomal tri-snRNP complex assembly [GO:0000244]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9UHI6-1; Sequence=Displayed; Name=2; IsoId=Q9UHI6-2; Sequence=VSP_056505, VSP_056506; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasm. Nucleus, gem. Note=Localized in subnuclear structures next to coiled bodies, called Gemini of Cajal bodies (Gems).


uniprotID: Q8TDD1
geneSymbol: DDX54
length: 881
go: ENSG00000123064;
snps: rs35519289 rs11564 rs10354 rs1048889
location: SUBCELLULAR LOCATION: Nucleus, nucleolus {ECO:0000269|PubMed:12429849}.
name:
ATP-dependent RNA helicase DDX54 (EC 3.6.4.13) (ATP-dependent RNA helicase DP97) (DEAD box RNA helicase 97 kDa) (DEAD box protein 54)

sequence:

opentargets:
Golgi apparatus [GO:0005794]; membrane [GO:0016020]; nucleolus [GO:0005730]; nucleus [GO:0005634]; ATP binding [GO:0005524]; ATP-dependent RNA helicase activity [GO:0004004]; estrogen receptor binding [GO:0030331]; RNA binding [GO:0003723]; signaling receptor binding [GO:0005102]; transcription corepressor activity [GO:0003714]; intracellular estrogen receptor signaling pathway [GO:0030520]; RNA metabolic process [GO:0016070]; RNA processing [GO:0006396]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q8TDD1-1; Sequence=Displayed; Name=2; IsoId=Q8TDD1-2; Sequence=VSP_040135; 


uniprotID: Q86XP3
geneSymbol: DDX42
reactome: R-HSA-72163;R-HSA-72165;
length: 938
go: ENSG00000198231;
name:
ATP-dependent RNA helicase DDX42 (EC 3.6.4.13) (DEAD box protein 42) (RNA helicase-like protein) (RHELP) (RNA helicase-related protein) (RNAHP) (SF3b DEAD box protein) (Splicing factor 3B-associated 125 kDa protein) (SF3b125)

sequence:

opentargets:
Cajal body [GO:0015030]; cytoplasm [GO:0005737]; cytosol [GO:0005829]; membrane [GO:0016020]; nuclear speck [GO:0016607]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; ATP binding [GO:0005524]; helicase activity [GO:0004386]; RNA binding [GO:0003723]; mRNA splicing, via spliceosome [GO:0000398]; protein localization [GO:0008104]; regulation of apoptotic process [GO:0042981]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q86XP3-1; Sequence=Displayed; Name=2; IsoId=Q86XP3-2; Sequence=VSP_023518; 

location:
SUBCELLULAR LOCATION: Cytoplasm. Nucleus speckle. Nucleus, Cajal body. Note=Isoform 2 is present in Cajal bodies (CBs) and nuclear speckles.


uniprotID: Q9NXZ2
geneSymbol: DDX43
length: 648
go: ENSG00000080007;
snps: rs311686 rs311685
name:
Probable ATP-dependent RNA helicase DDX43 (EC 3.6.4.13) (Cancer/testis antigen 13) (CT13) (DEAD box protein 43) (DEAD box protein HAGE) (Helical antigen)

sequence:

opentargets:
intracellular [GO:0005622]; ATP binding [GO:0005524]; ATP-dependent RNA helicase activity [GO:0004004]; RNA binding [GO:0003723]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9NXZ2-1; Sequence=Displayed; Name=2; IsoId=Q9NXZ2-2; Sequence=VSP_056955, VSP_056956; Note=No experimental confirmation available.; 


uniprotID: O95786
geneSymbol: DDX58
length: 925
go: ENSG00000107201;
snps: rs10813831 rs786204848 rs786204847 rs17217280
reactome:
R-HSA-1169408;R-HSA-168928;R-HSA-5689880;R-HSA-5689896;R-HSA-918233;R-HSA-933541;R-HSA-933542;R-HSA-933543;R-HSA-936440;

pdb:
2LWD;2LWE;2QFB;2QFD;2RMJ;2YKG;3LRN;3LRR;3NCU;3OG8;3ZD6;3ZD7;4AY2;4BPB;4NQK;4ON9;4P4H;5E3H;5F98;5F9F;5F9H;6GPG;

name:
Probable ATP-dependent RNA helicase DDX58 (EC 3.6.4.13) (DEAD box protein 58) (RIG-I-like receptor 1) (RLR-1) (Retinoic acid-inducible gene 1 protein) (RIG-1) (Retinoic acid-inducible gene I protein) (RIG-I)

sequence:

opentargets:
actin cytoskeleton [GO:0015629]; bicellular tight junction [GO:0005923]; cytoplasm [GO:0005737]; cytosol [GO:0005829]; ruffle membrane [GO:0032587]; ATP binding [GO:0005524]; double-stranded DNA binding [GO:0003690]; double-stranded RNA binding [GO:0003725]; helicase activity [GO:0004386]; identical protein binding [GO:0042802]; single-stranded RNA binding [GO:0003727]; ubiquitin protein ligase binding [GO:0031625]; zinc ion binding [GO:0008270]; cellular response to exogenous dsRNA [GO:0071360]; cytoplasmic pattern recognition receptor signaling pathway in response to virus [GO:0039528]; defense response to virus [GO:0051607]; detection of virus [GO:0009597]; innate immune response [GO:0045087]; negative regulation of type I interferon production [GO:0032480]; positive regulation of defense response to virus by host [GO:0002230]; positive regulation of DNA-binding transcription factor activity [GO:0051091]; positive regulation of gene expression [GO:0010628]; positive regulation of granulocyte macrophage colony-stimulating factor production [GO:0032725]; positive regulation of interferon-alpha production [GO:0032727]; positive regulation of interferon-alpha secretion [GO:1902741]; positive regulation of interferon-beta production [GO:0032728]; positive regulation of interferon-beta secretion [GO:0035549]; positive regulation of interleukin-6 production [GO:0032755]; positive regulation of interleukin-6 secretion [GO:2000778]; positive regulation of interleukin-8 production [GO:0032757]; positive regulation of myeloid dendritic cell cytokine production [GO:0002735]; positive regulation of response to cytokine stimulus [GO:0060760]; positive regulation of transcription by RNA polymerase II [GO:0045944]; positive regulation of tumor necrosis factor secretion [GO:1904469]; protein deubiquitination [GO:0016579]; regulation of cell migration [GO:0030334]; regulation of type III interferon production [GO:0034344]; response to exogenous dsRNA [GO:0043330]; response to virus [GO:0009615]; RIG-I signaling pathway [GO:0039529]; viral process [GO:0016032]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=O95786-1; Sequence=Displayed; Name=2; IsoId=O95786-2; Sequence=VSP_016054; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasm. Cell projection, ruffle membrane. Cytoplasm, cytoskeleton. Cell junction, tight junction. Note=Colocalized with TRIM25 at cytoplasmic perinuclear bodies. Associated with the actin cytoskeleton at membrane ruffles.


uniprotID: Q5T1V6
geneSymbol: DDX59
pdb: 2YQP;
length: 619
go: ENSG00000118197;
snps: rs3795634 rs587777067 rs17854157 rs886037652
name:
Probable ATP-dependent RNA helicase DDX59 (EC 3.6.4.13) (DEAD box protein 59) (Zinc finger HIT domain-containing protein 5)

sequence:

opentargets:
cytoplasm [GO:0005737]; intracellular [GO:0005622]; nucleus [GO:0005634]; ATP binding [GO:0005524]; helicase activity [GO:0004386]; metal ion binding [GO:0046872]; RNA binding [GO:0003723]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q5T1V6-1; Sequence=Displayed; Name=2; IsoId=Q5T1V6-2; Sequence=VSP_024227; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:23972372}. Nucleus {ECO:0000269|PubMed:23972372}. Note=Exhibits granular localization in the nucleus, as well as in the cytoplasm.


uniprotID: Q9NQI0
geneSymbol: DDX4
reactome: R-HSA-5601884;
name: Probable ATP-dependent RNA helicase DDX4 (EC 3.6.4.13) (DEAD box protein 4) (Vasa homolog)
length: 724
go: ENSG00000152670;
snps: rs2306259 rs2305123
sequence:

opentargets:
cytoplasm [GO:0005737]; perinuclear region of cytoplasm [GO:0048471]; pi-body [GO:0071546]; piP-body [GO:0071547]; ATP binding [GO:0005524]; ATPase activity [GO:0016887]; helicase activity [GO:0004386]; nucleic acid binding [GO:0003676]; cell differentiation [GO:0030154]; DNA methylation involved in gamete generation [GO:0043046]; flagellated sperm motility [GO:0030317]; gene silencing by RNA [GO:0031047]; male meiosis I [GO:0007141]; male meiotic nuclear division [GO:0007140]; multicellular organism development [GO:0007275]; negative regulation of transposition [GO:0010529]; piRNA biosynthetic process [GO:1990511]; piRNA metabolic process [GO:0034587]; spermatogenesis [GO:0007283]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=Q9NQI0-1; Sequence=Displayed; Name=2; IsoId=Q9NQI0-2; Sequence=VSP_011197; Note=No experimental confirmation available.; Name=3; IsoId=Q9NQI0-3; Sequence=VSP_046132, VSP_011197, VSP_046133; Note=No experimental confirmation available.; Name=4; IsoId=Q9NQI0-4; Sequence=VSP_047177; Note=No experimental confirmation available. Gene prediction based on cDNA data.; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250|UniProtKB:Q61496}. Cytoplasm, perinuclear region {ECO:0000250|UniProtKB:Q61496}. Note=Component of the meiotic nuage, also named P granule, a germ-cell-specific organelle required to repress transposon activity during meiosis. {ECO:0000250|UniProtKB:Q61496}.


uniprotID: P17844
geneSymbol: DDX5
reactome: R-HSA-3899300;R-HSA-72163;R-HSA-9018519;
pdb: 3FE2;4A4D;
name: Probable ATP-dependent RNA helicase DDX5 (EC 3.6.4.13) (DEAD box protein 5) (RNA helicase p68)
length: 614
go: ENSG00000108654;
snps: rs1140409
location: SUBCELLULAR LOCATION: Nucleus, nucleolus {ECO:0000269|PubMed:10837141, ECO:0000269|PubMed:1996094}.
sequence:

opentargets:
catalytic step 2 spliceosome [GO:0071013]; extracellular exosome [GO:0070062]; membrane [GO:0016020]; nucleolus [GO:0005730]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; ribonucleoprotein complex [GO:1990904]; androgen receptor binding [GO:0050681]; ATP binding [GO:0005524]; ATP-dependent RNA helicase activity [GO:0004004]; calcium-dependent protein binding [GO:0048306]; calmodulin binding [GO:0005516]; enzyme binding [GO:0019899]; MH2 domain binding [GO:0035500]; mRNA 3'-UTR binding [GO:0003730]; pre-mRNA binding [GO:0036002]; primary miRNA binding [GO:0070878]; promoter-specific chromatin binding [GO:1990841]; R-SMAD binding [GO:0070412]; ribonucleoprotein complex binding [GO:0043021]; RNA binding [GO:0003723]; RNA helicase activity [GO:0003724]; SMAD binding [GO:0046332]; alternative mRNA splicing, via spliceosome [GO:0000380]; androgen receptor signaling pathway [GO:0030521]; BMP signaling pathway [GO:0030509]; epithelial to mesenchymal transition [GO:0001837]; intracellular estrogen receptor signaling pathway [GO:0030520]; intrinsic apoptotic signaling pathway by p53 class mediator [GO:0072332]; mRNA splicing, via spliceosome [GO:0000398]; mRNA transcription [GO:0009299]; myoblast differentiation [GO:0045445]; negative regulation of transcription by RNA polymerase II [GO:0000122]; nuclear-transcribed mRNA catabolic process [GO:0000956]; positive regulation of DNA damage response, signal transduction by p53 class mediator [GO:0043517]; positive regulation of production of miRNAs involved in gene silencing by miRNA [GO:1903800]; pri-miRNA transcription by RNA polymerase II [GO:0061614]; regulation of alternative mRNA splicing, via spliceosome [GO:0000381]; regulation of androgen receptor signaling pathway [GO:0060765]; regulation of osteoblast differentiation [GO:0045667]; regulation of skeletal muscle cell differentiation [GO:2001014]; regulation of transcription by RNA polymerase II [GO:0006357]; regulation of viral genome replication [GO:0045069]; rhythmic process [GO:0048511]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P17844-1; Sequence=Displayed; Name=2; IsoId=P17844-2; Sequence=VSP_056154; Note=No experimental confirmation available.; 


uniprotID: Q8IY21
geneSymbol: DDX60
name: Probable ATP-dependent RNA helicase DDX60 (EC 3.6.4.13) (DEAD box protein 60)
length: 1712
go: ENSG00000137628;
snps: rs550625 rs576619
location: SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:21791617}.
sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; intermediate filament cytoskeleton [GO:0045111]; ATP binding [GO:0005524]; double-stranded DNA binding [GO:0003690]; double-stranded RNA binding [GO:0003725]; helicase activity [GO:0004386]; single-stranded RNA binding [GO:0003727]; defense response to virus [GO:0051607]; innate immune response [GO:0045087]; positive regulation of MDA-5 signaling pathway [GO:1900245]; positive regulation of RIG-I signaling pathway [GO:1900246]; response to virus [GO:0009615]


uniprotID: Q16698
geneSymbol: DECR1
reactome: R-HSA-77288;
pdb: 1W6U;1W73;1W8D;
length: 335
go: ENSG00000104325;
drug: DB03461;
snps: rs15094
location: SUBCELLULAR LOCATION: Mitochondrion.
name:
2,4-dienoyl-CoA reductase, mitochondrial (EC 1.3.1.34) (2,4-dienoyl-CoA reductase [NADPH]) (4-enoyl-CoA reductase [NADPH]) (Short chain dehydrogenase/reductase family 18C member 1)

sequence:

opentargets:
cytosol [GO:0005829]; mitochondrial matrix [GO:0005759]; mitochondrion [GO:0005739]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; 2,4-dienoyl-CoA reductase (NADPH) activity [GO:0008670]; NADPH binding [GO:0070402]; oxidoreductase activity, acting on NAD(P)H [GO:0016651]; fatty acid beta-oxidation [GO:0006635]; positive regulation of cold-induced thermogenesis [GO:0120162]; protein homotetramerization [GO:0051289]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q16698-1; Sequence=Displayed; Name=2; IsoId=Q16698-2; Sequence=VSP_056388; Note=No experimental confirmation available.; 


uniprotID: P60022
geneSymbol: DEFB1
reactome: R-HSA-1461957;R-HSA-1461973;
pdb: 1E4S;1IJU;1IJV;1KJ5;2NLB;2NLC;2NLD;2NLE;2NLF;2NLG;2NLH;2NLP;2NLQ;2NLS;2PLZ;
name: Beta-defensin 1 (BD-1) (hBD-1) (Defensin, beta 1)
sequence: MRTSYLLLFTLCLLLSEMASGGNFLTGLGHRSDHYNCVSSGGQCLYSACPIFTKIQGTCYRGKAKCCK
length: 68
go: ENSG00000164825;
snps: rs2738047 rs1800967 rs1800968
opentargets:
extracellular exosome [GO:0070062]; extracellular region [GO:0005576]; extracellular space [GO:0005615]; extrinsic component of membrane [GO:0019898]; Golgi lumen [GO:0005796]; microvesicle [GO:1990742]; sperm midpiece [GO:0097225]; CCR6 chemokine receptor binding [GO:0031731]; identical protein binding [GO:0042802]; antibacterial humoral response [GO:0019731]; antimicrobial humoral immune response mediated by antimicrobial peptide [GO:0061844]; antimicrobial humoral response [GO:0019730]; calcium-mediated signaling using intracellular calcium source [GO:0035584]; cAMP-mediated signaling [GO:0019933]; chemotaxis [GO:0006935]; defense response to bacterium [GO:0042742]; defense response to Gram-negative bacterium [GO:0050829]; defense response to Gram-positive bacterium [GO:0050830]; G protein-coupled receptor signaling pathway [GO:0007186]; immune response [GO:0006955]; innate immune response [GO:0045087]; innate immune response in mucosa [GO:0002227]; positive regulation of flagellated sperm motility involved in capacitation [GO:0060474]; response to bacterium [GO:0009617]

location:
SUBCELLULAR LOCATION: Secreted {ECO:0000269|PubMed:7628632}. Membrane {ECO:0000269|PubMed:23938203}. Note=Associates with tumor cell membrane-derived microvesicles (PubMed:23938203). {ECO:0000269|PubMed:23938203}.


uniprotID: Q9HBH1
geneSymbol: PDF
pdb: 3G5K;3G5P;
name: Peptide deformylase, mitochondrial (EC 3.5.1.88) (Polypeptide deformylase)
length: 243
go: ENSG00000258429;
drug: DB04310;DB04368;
snps: rs8057004
location: SUBCELLULAR LOCATION: Mitochondrion {ECO:0000305}.
sequence:

opentargets:
mitochondrion [GO:0005739]; metal ion binding [GO:0046872]; peptide deformylase activity [GO:0042586]; co-translational protein modification [GO:0043686]; N-terminal protein amino acid modification [GO:0031365]; peptidyl-methionine modification [GO:0018206]; positive regulation of cell proliferation [GO:0008284]; translation [GO:0006412]


uniprotID: Q9ULE3
geneSymbol: DENND2A
reactome: R-HSA-8876198;
name: DENN domain-containing protein 2A
length: 1009
go: ENSG00000146966;
snps: rs269243 rs2293177 rs6464833
sequence:

opentargets:
actin cytoskeleton [GO:0015629]; cytosol [GO:0005829]; Rab guanyl-nucleotide exchange factor activity [GO:0017112]; protein transport [GO:0015031]; retrograde transport, endosome to Golgi [GO:0042147]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9ULE3-1; Sequence=Displayed; Name=2; IsoId=Q9ULE3-2; Sequence=VSP_019466, VSP_019467; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton {ECO:0000269|PubMed:20937701}. Note=Associated with actin filaments.


uniprotID: O43583
geneSymbol: DENR
pdb: 5ONS;5VYC;
name: Density-regulated protein (DRP) (Protein DRP1) (Smooth muscle cell-associated protein 3) (SMAP-3)
length: 198
go: ENSG00000139726;
sequence:
MAADISESSGADCKGDPRNSAKLDADYPLRVLYCGVCSLPTEYCEYMPDVAKCRQWLEKNFPNEFAKLTVENSPKQEAGISEGQGTAGEEEEKKKQKRGGRGQIKQKKKTVPQKVTIAKIPRAKKKYVTRVCGLATFEIDLKEAQRFFAQKFSCGASVTGEDEIIIQGDFTDDIIDVIQEKWPEVDDDSIEDLGEVKK

opentargets:
mRNA binding [GO:0003729]; translation initiation factor activity [GO:0003743]; formation of translation preinitiation complex [GO:0001731]; IRES-dependent viral translational initiation [GO:0075522]; ribosome disassembly [GO:0032790]; translation reinitiation [GO:0002188]


uniprotID: Q86T65
geneSymbol: DAAM2
name: Disheveled-associated activator of morphogenesis 2
length: 1068
go: ENSG00000146122;
snps: rs6919807 rs34699846
sequence:

opentargets:
extracellular exosome [GO:0070062]; actin binding [GO:0003779]; Rho GTPase binding [GO:0017048]; actin cytoskeleton organization [GO:0030036]; determination of left/right symmetry [GO:0007368]; dorsal spinal cord development [GO:0021516]; negative regulation of oligodendrocyte differentiation [GO:0048715]; positive regulation of canonical Wnt signaling pathway [GO:0090263]; regulation of canonical Wnt signaling pathway [GO:0060828]; regulation of non-canonical Wnt signaling pathway [GO:2000050]; Wnt signaling pathway [GO:0016055]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q86T65-3; Sequence=Displayed; Name=2; IsoId=Q86T65-4; Sequence=VSP_047360; 


uniprotID: Q30KQ4
geneSymbol: DEFB116
reactome: R-HSA-1461957;R-HSA-1461973;
name: Beta-defensin 116 (Beta-defensin 16) (DEFB-16) (Defensin, beta 116)
length: 102
snps: rs6119768
location: SUBCELLULAR LOCATION: Secreted {ECO:0000250}.
sequence:
MSVMKPCLMTIAILMILAQKTPGGLFRSHNGKSREPWNPCELYQGMCRNACREYEIQYLTCPNDQKCCLKLSVKITSSKNVKEDYDSNSNLSVTNSSSYSHI


uniprotID: Q7L5Y6
geneSymbol: DET1
reactome: R-HSA-983168;
name: DET1 homolog (De-etiolated-1 homolog)
length: 550
go: ENSG00000140543;
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000305}.
sequence:

opentargets:
Cul4-RING E3 ubiquitin ligase complex [GO:0080008]; Cul4A-RING E3 ubiquitin ligase complex [GO:0031464]; nucleus [GO:0005634]; protein binding, bridging involved in substrate recognition for ubiquitination [GO:1990756]; protein-containing complex binding [GO:0044877]; ubiquitin protein ligase binding [GO:0031625]; positive regulation of proteasomal ubiquitin-dependent protein catabolic process [GO:0032436]; protein ubiquitination [GO:0016567]; protein-containing complex assembly [GO:0065003]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q7L5Y6-1; Sequence=Displayed; Name=2; IsoId=Q7L5Y6-2; Sequence=VSP_043012; Note=No experimental confirmation available.; 


uniprotID: Q13822
geneSymbol: ENPP2
reactome: R-HSA-199220;
pdb: 4ZG6;4ZG7;4ZG9;4ZGA;5KXA;5M7M;5MHP;
length: 863
go: ENSG00000136960;
snps: rs10283100 rs2289886 rs16892767
name:
Ectonucleotide pyrophosphatase/phosphodiesterase family member 2 (E-NPP 2) (EC 3.1.4.39) (Autotaxin) (Extracellular lysophospholipase D) (LysoPLD)

sequence:

opentargets:
cytoplasm [GO:0005737]; extracellular space [GO:0005615]; Golgi apparatus [GO:0005794]; plasma membrane [GO:0005886]; alkylglycerophosphoethanolamine phosphodiesterase activity [GO:0047391]; calcium ion binding [GO:0005509]; hydrolase activity [GO:0016787]; lysophospholipase activity [GO:0004622]; nucleic acid binding [GO:0003676]; nucleotide diphosphatase activity [GO:0004551]; phosphodiesterase I activity [GO:0004528]; polysaccharide binding [GO:0030247]; scavenger receptor activity [GO:0005044]; transcription factor binding [GO:0008134]; zinc ion binding [GO:0008270]; cell chemotaxis [GO:0060326]; cell motility [GO:0048870]; cellular response to cadmium ion [GO:0071276]; cellular response to estradiol stimulus [GO:0071392]; chemotaxis [GO:0006935]; diencephalon development [GO:0021536]; forebrain development [GO:0030900]; immune response [GO:0006955]; midbrain development [GO:0030901]; negative regulation of cell-matrix adhesion [GO:0001953]; phosphatidylcholine catabolic process [GO:0034638]; phospholipid catabolic process [GO:0009395]; positive regulation of cell proliferation [GO:0008284]; positive regulation of epithelial cell migration [GO:0010634]; positive regulation of focal adhesion assembly [GO:0051894]; positive regulation of lamellipodium morphogenesis [GO:2000394]; positive regulation of oligodendrocyte differentiation [GO:0048714]; positive regulation of peptidyl-tyrosine phosphorylation [GO:0050731]; positive regulation of substrate adhesion-dependent cell spreading [GO:1900026]; regulation of angiogenesis [GO:0045765]; regulation of cell migration [GO:0030334]; response to polycyclic arene [GO:1903165]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; Synonyms=ATXter, Beta; IsoId=Q13822-1; Sequence=Displayed; Name=2; Synonyms=ATXmel, Alpha; IsoId=Q13822-2; Sequence=VSP_006750; Name=3; Synonyms=Gamma; IsoId=Q13822-3; Sequence=VSP_036398; 

location:
SUBCELLULAR LOCATION: Secreted {ECO:0000269|PubMed:12176993, ECO:0000269|PubMed:15769751, ECO:0000269|PubMed:1733949, ECO:0000269|PubMed:26371182, ECO:0000269|PubMed:27754931}.


uniprotID: P23743
geneSymbol: DGKA
reactome: R-HSA-114508;
pdb: 1TUZ;
length: 735
go: ENSG00000065357;
drug: DB00163;
snps: rs17852990
name:
Diacylglycerol kinase alpha (DAG kinase alpha) (EC 2.7.1.107) (80 kDa diacylglycerol kinase) (Diglyceride kinase alpha) (DGK-alpha)

sequence:

opentargets:
cytosol [GO:0005829]; membrane [GO:0016020]; plasma membrane [GO:0005886]; ATP binding [GO:0005524]; calcium ion binding [GO:0005509]; diacylglycerol kinase activity [GO:0004143]; kinase activity [GO:0016301]; NAD+ kinase activity [GO:0003951]; phospholipid binding [GO:0005543]; diacylglycerol metabolic process [GO:0046339]; glycerolipid metabolic process [GO:0046486]; intracellular signal transduction [GO:0035556]; lipid phosphorylation [GO:0046834]; phosphatidic acid biosynthetic process [GO:0006654]; platelet activation [GO:0030168]; protein kinase C-activating G protein-coupled receptor signaling pathway [GO:0007205]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=P23743-1; Sequence=Displayed; Name=2; IsoId=P23743-2; Sequence=VSP_032212, VSP_032213; Note=May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.; Name=3; IsoId=P23743-3; Sequence=VSP_047702, VSP_047703; 


uniprotID: Q9Y6X5
geneSymbol: ENPP4
reactome: R-HSA-6798695;
pdb: 4LQY;4LR2;
length: 453
go: ENSG00000001561;
snps: rs7451713 rs9381429 rs16874289
name:
Bis(5'-adenosyl)-triphosphatase ENPP4 (EC 3.6.1.29) (AP3A hydrolase) (AP3Aase) (Ectonucleotide pyrophosphatase/phosphodiesterase family member 4) (E-NPP 4) (NPP-4)

sequence:

opentargets:
extracellular exosome [GO:0070062]; ficolin-1-rich granule membrane [GO:0101003]; integral component of membrane [GO:0016021]; membrane [GO:0016020]; plasma membrane [GO:0005886]; bis(5'-adenosyl)-triphosphatase activity [GO:0047710]; metal ion binding [GO:0046872]; blood coagulation [GO:0007596]; neutrophil degranulation [GO:0043312]; positive regulation of blood coagulation [GO:0030194]; purine ribonucleoside catabolic process [GO:0046130]

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:22995898}; Single-pass type I membrane protein {ECO:0000269|PubMed:22995898}.


uniprotID: P52429
geneSymbol: DGKE
reactome: R-HSA-114508;
length: 567
go: ENSG00000153933;
snps: rs312262694 rs312262695
name:
Diacylglycerol kinase epsilon (DAG kinase epsilon) (EC 2.7.1.107) (Diglyceride kinase epsilon) (DGK-epsilon)

sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; glutamatergic synapse [GO:0098978]; integral component of membrane [GO:0016021]; membrane [GO:0016020]; nucleus [GO:0005634]; plasma membrane [GO:0005886]; ATP binding [GO:0005524]; diacylglycerol kinase activity [GO:0004143]; kinase activity [GO:0016301]; metal ion binding [GO:0046872]; NAD+ kinase activity [GO:0003951]; intracellular signal transduction [GO:0035556]; lipid phosphorylation [GO:0046834]; modulation of chemical synaptic transmission [GO:0050804]; phospholipid biosynthetic process [GO:0008654]; platelet activation [GO:0030168]; protein kinase C-activating G protein-coupled receptor signaling pathway [GO:0007205]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P52429-1; Sequence=Displayed; Name=2; IsoId=P52429-2; Sequence=VSP_056957, VSP_056958; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Multi-pass membrane protein {ECO:0000305}. Membrane {ECO:0000269|PubMed:23542698}. Cytoplasm {ECO:0000269|PubMed:23542698}.


uniprotID: P49619
geneSymbol: DGKG
reactome: R-HSA-114508;
length: 791
go: ENSG00000058866;
drug: DB00144;
snps: rs1004588 rs2193587 rs3213770
location: SUBCELLULAR LOCATION: Cytoplasm. Membrane. Note=Can be loosely bound to the membranes.
name:
Diacylglycerol kinase gamma (DAG kinase gamma) (EC 2.7.1.107) (Diglyceride kinase gamma) (DGK-gamma)

sequence:

opentargets:
cytoplasm [GO:0005737]; plasma membrane [GO:0005886]; ATP binding [GO:0005524]; calcium ion binding [GO:0005509]; diacylglycerol kinase activity [GO:0004143]; NAD+ kinase activity [GO:0003951]; glycerolipid metabolic process [GO:0046486]; intracellular signal transduction [GO:0035556]; lipid phosphorylation [GO:0046834]; neuron development [GO:0048666]; platelet activation [GO:0030168]; protein kinase C-activating G protein-coupled receptor signaling pathway [GO:0007205]; signal transduction [GO:0007165]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; Synonyms=Long; IsoId=P49619-1; Sequence=Displayed; Name=2; Synonyms=Short; IsoId=P49619-2; Sequence=VSP_001267; Note=May be inactive.; Name=3; IsoId=P49619-3; Sequence=VSP_039922; 


uniprotID: Q6UWR7
geneSymbol: ENPP6
reactome: R-HSA-6814848;
length: 440
go: ENSG00000164303;
snps: rs4488969 rs4479748
name:
Ectonucleotide pyrophosphatase/phosphodiesterase family member 6 (E-NPP 6) (NPP-6) (EC 3.1.4.-) (EC 3.1.4.38) (Choline-specific glycerophosphodiester phosphodiesterase) (Glycerophosphocholine cholinephosphodiesterase) (GPC-Cpde)

sequence:

opentargets:
anchored component of membrane [GO:0031225]; extracellular exosome [GO:0070062]; extracellular region [GO:0005576]; plasma membrane [GO:0005886]; glycerophosphocholine cholinephosphodiesterase activity [GO:0047390]; glycerophosphodiester phosphodiesterase activity [GO:0008889]; phosphoric diester hydrolase activity [GO:0008081]; choline metabolic process [GO:0019695]; glycerophospholipid catabolic process [GO:0046475]; lipid metabolic process [GO:0006629]

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:15788404}; Lipid-anchor, GPI-anchor {ECO:0000269|PubMed:15788404}. Note=A small amount of the protein may be found in the extracellular milieu.


uniprotID: Q9Y4D2
geneSymbol: DAGLA
reactome: R-HSA-426048;
length: 1042
go: ENSG00000134780;
snps: rs35056845 rs3741252 rs34956386
location: SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein.
name:
Sn1-specific diacylglycerol lipase alpha (DGL-alpha) (EC 3.1.1.-) (Neural stem cell-derived dendrite regulator)

sequence:

opentargets:
integral component of postsynaptic membrane [GO:0099055]; plasma membrane [GO:0005886]; postsynaptic membrane [GO:0045211]; varicosity [GO:0043196]; acylglycerol lipase activity [GO:0047372]; metal ion binding [GO:0046872]; arachidonic acid metabolic process [GO:0019369]; diacylglycerol catabolic process [GO:0046340]; endocannabinoid signaling pathway [GO:0071926]; G protein-coupled glutamate receptor signaling pathway [GO:0007216]; neuroblast proliferation [GO:0007405]; neurogenesis [GO:0022008]; neurotransmitter biosynthetic process [GO:0042136]; retrograde trans-synaptic signaling by endocannabinoid [GO:0098921]


uniprotID: Q8IYW4
geneSymbol: ENTHD1
name: ENTH domain-containing protein 1 (Epsin-2B)
length: 607
go: ENSG00000176177;
snps: rs17319801
sequence:


uniprotID: P98073
geneSymbol: TMPRSS15
pdb: 4DGJ;
length: 1019
go: ENSG00000154646;
snps: rs35987974 rs2824804 rs2824790 rs8134187 rs2273204 rs11088674 rs2824721 rs8130110
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Single-pass type II membrane protein {ECO:0000305}.
name:
Enteropeptidase (EC 3.4.21.9) (Enterokinase) (Serine protease 7) (Transmembrane protease serine 15) [Cleaved into: Enteropeptidase non-catalytic heavy chain; Enteropeptidase catalytic light chain]

sequence:

opentargets:
brush border [GO:0005903]; integral component of membrane [GO:0016021]; membrane [GO:0016020]; scavenger receptor activity [GO:0005044]; serine-type endopeptidase activity [GO:0004252]


uniprotID: P37059
geneSymbol: HSD17B2
reactome: R-HSA-193144;
length: 387
go: ENSG00000086696;
drug: DB00157;
snps: rs8191136
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Single-pass type II membrane protein {ECO:0000305}.
name:
Estradiol 17-beta-dehydrogenase 2 (EC 1.1.1.62) (17-beta-hydroxysteroid dehydrogenase type 2) (17-beta-HSD 2) (20 alpha-hydroxysteroid dehydrogenase) (20-alpha-HSD) (E2DH) (Microsomal 17-beta-hydroxysteroid dehydrogenase) (Short chain dehydrogenase/reductase family 9C member 2) (Testosterone 17-beta-dehydrogenase) (EC 1.1.1.239)

sequence:

opentargets:
endoplasmic reticulum membrane [GO:0005789]; integral component of membrane [GO:0016021]; 17-alpha,20-alpha-dihydroxypregn-4-en-3-one dehydrogenase activity [GO:0047006]; estradiol 17-beta-dehydrogenase activity [GO:0004303]; testosterone dehydrogenase (NAD+) activity [GO:0047035]; estrogen biosynthetic process [GO:0006703]; in utero embryonic development [GO:0001701]; placenta development [GO:0001890]; response to retinoic acid [GO:0032526]


uniprotID: Q9UQ10
geneSymbol: DHDH
length: 334
go: ENSG00000104808;
snps: rs10401800 rs2270941 rs35453148 rs11666105 rs3765148
name:
Trans-1,2-dihydrobenzene-1,2-diol dehydrogenase (EC 1.3.1.20) (D-xylose 1-dehydrogenase) (D-xylose-NADP dehydrogenase) (EC 1.1.1.179) (Dimeric dihydrodiol dehydrogenase) (Hum2DD)

sequence:

opentargets:
D-xylose 1-dehydrogenase (NADP+) activity [GO:0047837]; electron transfer activity [GO:0009055]; NAD(P)+ transhydrogenase activity [GO:0008746]; trans-1,2-dihydrobenzene-1,2-diol dehydrogenase activity [GO:0047115]; carbohydrate metabolic process [GO:0005975]; D-xylose catabolic process [GO:0042843]


uniprotID: Q6UWP2
geneSymbol: DHRS11
pdb: 1XG5;
length: 260
go: ENSG00000278535;
drug: DB03461;
location: SUBCELLULAR LOCATION: Secreted {ECO:0000305}.
name:
Dehydrogenase/reductase SDR family member 11 (17-beta-hydroxysteroid dehydrogenase) (3-beta-hydroxysteroid 3-dehydrogenase) (EC 1.1.1.270) (Estradiol 17-beta-dehydrogenase) (EC 1.1.1.62) (Short-chain dehydrogenase/reductase family 24C member 1)

sequence:

opentargets:
extracellular region [GO:0005576]; 17-beta-hydroxysteroid dehydrogenase (NADP+) activity [GO:0072582]; 17-beta-ketosteroid reductase activity [GO:0072555]; 3-keto sterol reductase activity [GO:0000253]; estradiol 17-beta-dehydrogenase activity [GO:0004303]; nucleotide binding [GO:0000166]; estrogen biosynthetic process [GO:0006703]; steroid biosynthetic process [GO:0006694]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q6UWP2-1; Sequence=Displayed; Name=2; IsoId=Q6UWP2-2; Sequence=VSP_016987; Name=3; IsoId=Q6UWP2-3; Sequence=VSP_059104; 


uniprotID: Q9BTZ2
geneSymbol: DHRS4
reactome: R-HSA-5365859;R-HSA-9033241;
pdb: 3O4R;
length: 278
go: ENSG00000157326;
drug: DB00162;
snps: rs1043442 rs1043650
name:
Dehydrogenase/reductase SDR family member 4 (EC 1.1.1.184) (NADPH-dependent carbonyl reductase/NADP-retinol dehydrogenase) (CR) (PHCR) (NADPH-dependent retinol dehydrogenase/reductase) (NRDR) (humNRDR) (Peroxisomal short-chain alcohol dehydrogenase) (PSCD) (SCAD-SRL) (Short chain dehydrogenase/reductase family 25C member 2) (Short-chain dehydrogenase/reductase family member 4)

sequence:

opentargets:
cytosol [GO:0005829]; endoplasmic reticulum membrane [GO:0005789]; mitochondrion [GO:0005739]; nucleus [GO:0005634]; peroxisomal matrix [GO:0005782]; peroxisomal membrane [GO:0005778]; peroxisome [GO:0005777]; 3-keto sterol reductase activity [GO:0000253]; alcohol dehydrogenase [NAD(P)+] activity [GO:0018455]; carbonyl reductase (NADPH) activity [GO:0004090]; NADP-retinol dehydrogenase activity [GO:0052650]; oxidoreductase activity, acting on NAD(P)H, quinone or similar compound as acceptor [GO:0016655]; signaling receptor binding [GO:0005102]; alcohol metabolic process [GO:0006066]; cellular ketone metabolic process [GO:0042180]; oxidation-reduction process [GO:0055114]; protein targeting to peroxisome [GO:0006625]; protein tetramerization [GO:0051262]; steroid metabolic process [GO:0008202]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=8;  Name=1; Synonyms=SDR-SRL3; IsoId=Q9BTZ2-1; Sequence=Displayed; Name=2; Synonyms=SDR-SRL1; IsoId=Q9BTZ2-2; Sequence=VSP_008586; Name=3; Synonyms=SDR-SRL2; IsoId=Q9BTZ2-3; Sequence=VSP_008585; Name=4; Synonyms=NRDRB1; IsoId=Q9BTZ2-4; Sequence=VSP_031436; Name=5; Synonyms=NRDRB2; IsoId=Q9BTZ2-5; Sequence=VSP_031436, VSP_031438; Name=6; Synonyms=DHRS4L2, NRDRA1; IsoId=Q9BTZ2-6; Sequence=VSP_031435; Name=7; Synonyms=NRDRA2; IsoId=Q9BTZ2-7; Sequence=VSP_031437, VSP_031439; Note=Mainly localized in the nucleus.; Name=8; Synonyms=NRDRB1; IsoId=Q9BTZ2-8; Sequence=VSP_044947, VSP_031436; Note=Enhanced dicarbonyl reductase activity. high expression in liver.; 

location:
SUBCELLULAR LOCATION: Peroxisome {ECO:0000269|PubMed:10333503}. Note=Isoform 1 is peroxisomal, while isoform 4 is not.; SUBCELLULAR LOCATION: Isoform 7: Nucleus {ECO:0000269|PubMed:22227495}.


uniprotID: Q6P158
geneSymbol: DHX57
name: Putative ATP-dependent RNA helicase DHX57 (EC 3.6.4.13) (DEAH box protein 57)
length: 1386
go: ENSG00000163214;
snps: rs11893062 rs35371077 rs7598922
sequence:

opentargets:
ATP binding [GO:0005524]; ATP-dependent 3'-5' RNA helicase activity [GO:0034459]; metal ion binding [GO:0046872]; RNA binding [GO:0003723]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q6P158-1; Sequence=Displayed; Name=2; IsoId=Q6P158-2; Sequence=VSP_018059, VSP_018060; Note=No experimental confirmation available.; Name=3; IsoId=Q6P158-3; Sequence=VSP_018056, VSP_018057, VSP_018058; Note=No experimental confirmation available.; 


uniprotID: Q9BPW9
geneSymbol: DHRS9
reactome: R-HSA-2453902;R-HSA-5365859;
length: 319
go: ENSG00000073737;
snps: rs11695788
name:
Dehydrogenase/reductase SDR family member 9 (EC 1.1.-.-) (3-alpha hydroxysteroid dehydrogenase) (3-alpha-HSD) (NADP-dependent retinol dehydrogenase/reductase) (RDH-E2) (RDHL) (Retinol dehydrogenase 15) (Short chain dehydrogenase/reductase family 9C member 4) (Short-chain dehydrogenase/reductase retSDR8) (Tracheobronchial epithelial cell-specific retinol dehydrogenase) (RDH-TBE)

sequence:

opentargets:
endoplasmic reticulum membrane [GO:0005789]; integral component of endoplasmic reticulum membrane [GO:0030176]; organelle membrane [GO:0031090]; alcohol dehydrogenase (NAD) activity [GO:0004022]; racemase and epimerase activity [GO:0016854]; retinol dehydrogenase activity [GO:0004745]; testosterone dehydrogenase (NAD+) activity [GO:0047035]; 9-cis-retinoic acid biosynthetic process [GO:0042904]; androgen metabolic process [GO:0008209]; epithelial cell differentiation [GO:0030855]; progesterone metabolic process [GO:0042448]; retinol metabolic process [GO:0042572]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=Q9BPW9-1; Sequence=Displayed; Name=2; Synonyms=Retinol dehydrogenase homolog isoform-2; IsoId=Q9BPW9-2; Sequence=VSP_015875; Note=No experimental confirmation available.; Name=3; Synonyms=Retinol dehydrogenase homolog isoform-1; IsoId=Q9BPW9-3; Sequence=VSP_015876; Note=No experimental confirmation available.; Name=4; IsoId=Q9BPW9-4; Sequence=VSP_054357; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Microsome membrane {ECO:0000269|PubMed:11294878, ECO:0000269|PubMed:11304534, ECO:0000269|PubMed:12618084}. Endoplasmic reticulum membrane {ECO:0000305}. Note=Associated with microsomal membranes.


uniprotID: P98082
geneSymbol: DAB2
reactome: R-HSA-190873;R-HSA-196025;R-HSA-8856825;R-HSA-8856828;
pdb: 2LSW;
length: 770
go: ENSG00000153071;
snps: rs700241 rs3733801
name:
Disabled homolog 2 (Adaptor molecule disabled-2) (Differentially expressed in ovarian carcinoma 2) (DOC-2) (Differentially-expressed protein 2)

sequence:

opentargets:
clathrin-coated pit [GO:0005905]; clathrin-coated vesicle [GO:0030136]; clathrin-coated vesicle membrane [GO:0030665]; cytosol [GO:0005829]; fibrillar center [GO:0001650]; focal adhesion [GO:0005925]; intracellular membrane-bounded organelle [GO:0043231]; lysosomal membrane [GO:0005765]; plasma membrane [GO:0005886]; cargo receptor activity [GO:0038024]; clathrin adaptor activity [GO:0035615]; protein C-terminus binding [GO:0008022]; SMAD binding [GO:0046332]; apoptotic process [GO:0006915]; cell proliferation [GO:0008283]; leading edge cell differentiation [GO:0035026]; membrane organization [GO:0061024]; multicellular organism development [GO:0007275]; negative regulation of androgen receptor signaling pathway [GO:0060766]; negative regulation of apoptotic process [GO:0043066]; negative regulation of canonical Wnt signaling pathway [GO:0090090]; negative regulation of protein binding [GO:0032091]; negative regulation of protein localization to plasma membrane [GO:1903077]; negative regulation of transcription, DNA-templated [GO:0045892]; positive regulation of cell migration [GO:0030335]; positive regulation of clathrin-dependent endocytosis [GO:2000370]; positive regulation of early endosome to late endosome transport [GO:2000643]; positive regulation of endocytosis [GO:0045807]; positive regulation of epithelial to mesenchymal transition [GO:0010718]; positive regulation of pathway-restricted SMAD protein phosphorylation [GO:0010862]; positive regulation of proteasomal ubiquitin-dependent protein catabolic process [GO:0032436]; positive regulation of protein phosphorylation [GO:0001934]; positive regulation of SMAD protein signal transduction [GO:0060391]; positive regulation of transcription, DNA-templated [GO:0045893]; positive regulation of transforming growth factor beta receptor signaling pathway [GO:0030511]; positive regulation of Wnt signaling pathway, planar cell polarity pathway [GO:2000096]; protein transport [GO:0015031]; Wnt signaling pathway [GO:0016055]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=P98082-1; Sequence=Displayed; Name=2; IsoId=P98082-2; Sequence=VSP_004181; Name=3; IsoId=P98082-3; Sequence=VSP_038401; 

location:
SUBCELLULAR LOCATION: Cytoplasm. Cytoplasmic vesicle, clathrin-coated vesicle membrane. Membrane, clathrin-coated pit. Note=Colocalizes with large insert-containing isoforms of MYO6 at clathrin-coated pits/vesicles. During mitosis is progressively displaced from the membrane and translocated to the cytoplasm.


uniprotID: Q13561
geneSymbol: DCTN2
length: 401
go: ENSG00000175203;
reactome:
R-HSA-2132295;R-HSA-2565942;R-HSA-3371497;R-HSA-380259;R-HSA-380270;R-HSA-380284;R-HSA-380320;R-HSA-5620912;R-HSA-6807878;R-HSA-6811436;R-HSA-8854518;

name:
Dynactin subunit 2 (50 kDa dynein-associated polypeptide) (Dynactin complex 50 kDa subunit) (DCTN-50) (p50 dynamitin)

sequence:

opentargets:
centrosome [GO:0005813]; cytoplasm [GO:0005737]; cytosol [GO:0005829]; dynactin complex [GO:0005869]; dynein complex [GO:0030286]; extracellular exosome [GO:0070062]; growth cone [GO:0030426]; kinetochore [GO:0000776]; membrane [GO:0016020]; microtubule [GO:0005874]; vesicle [GO:0031982]; identical protein binding [GO:0042802]; motor activity [GO:0003774]; protein kinase binding [GO:0019901]; spectrin binding [GO:0030507]; antigen processing and presentation of exogenous peptide antigen via MHC class II [GO:0019886]; cell proliferation [GO:0008283]; ciliary basal body-plasma membrane docking [GO:0097711]; ER to Golgi vesicle-mediated transport [GO:0006888]; G2/M transition of mitotic cell cycle [GO:0000086]; melanosome transport [GO:0032402]; mitotic cell cycle [GO:0000278]; mitotic spindle organization [GO:0007052]; protein localization to centrosome [GO:0071539]; regulation of G2/M transition of mitotic cell cycle [GO:0010389]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q13561-1; Sequence=Displayed; Name=2; IsoId=Q13561-2; Sequence=VSP_040485; Name=3; IsoId=Q13561-3; Sequence=VSP_040486; 

location:
SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton, microtubule organizing center, centrosome {ECO:0000269|PubMed:14654843, ECO:0000269|PubMed:8647893}. Membrane {ECO:0000269|PubMed:8647893}; Peripheral membrane protein {ECO:0000269|PubMed:8647893}.


uniprotID: P32321
geneSymbol: DCTD
reactome: R-HSA-499943;
pdb: 2W4L;
name: Deoxycytidylate deaminase (EC 3.5.4.12) (dCMP deaminase)
length: 178
go: ENSG00000129187;
drug: DB00987;
sequence:
MSEVSCKKRDDYLEWPEYFMAVAFLSAQRSKDPNSQVGACIVNSENKIVGIGYNGMPNGCSDDVLPWRRTAENKLDTKYPYVCHAELNAIMNKNSTDVKGCSMYVALFPCNECAKLIIQAGIKEVIFMSDKYHDSDEATAARLLFNMAGVTFRKFIPKCSKIVIDFDSINSRPSQKLQ

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; dCMP deaminase activity [GO:0004132]; identical protein binding [GO:0042802]; zinc ion binding [GO:0008270]; dTMP biosynthetic process [GO:0006231]; dUMP biosynthetic process [GO:0006226]; nucleobase-containing small molecule interconversion [GO:0015949]; pyrimidine nucleotide metabolic process [GO:0006220]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P32321-1; Sequence=Displayed; Name=2; IsoId=P32321-2; Sequence=VSP_038094; 


uniprotID: O95865
geneSymbol: DDAH2
reactome: R-HSA-203615;
length: 285
go: ENSG00000213722;
drug: DB00155;
name:
N(G),N(G)-dimethylarginine dimethylaminohydrolase 2 (DDAH-2) (Dimethylarginine dimethylaminohydrolase 2) (EC 3.5.3.18) (DDAHII) (Dimethylargininase-2) (Protein G6a) (S-phase protein)

sequence:

opentargets:
cytosol [GO:0005829]; extracellular exosome [GO:0070062]; microtubule organizing center [GO:0005815]; mitochondrion [GO:0005739]; amino acid binding [GO:0016597]; catalytic activity [GO:0003824]; dimethylargininase activity [GO:0016403]; arginine catabolic process [GO:0006527]; arginine metabolic process [GO:0006525]; citrulline metabolic process [GO:0000052]; negative regulation of apoptotic process [GO:0043066]; nitric oxide biosynthetic process [GO:0006809]; nitric oxide mediated signal transduction [GO:0007263]; positive regulation of nitric oxide biosynthetic process [GO:0045429]; regulation of nitric-oxide synthase activity [GO:0050999]

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:21898353}. Mitochondrion {ECO:0000269|PubMed:21898353}. Note=Translocates from cytosol to mitochondrion upon IL-1beta stimulation in chondrocytes.


uniprotID: Q5TDH0
geneSymbol: DDI2
pdb: 2N7D;4RGH;5K57;
name: Protein DDI1 homolog 2 (EC 3.4.23.-)
length: 399
go: ENSG00000197312;
location: SUBCELLULAR LOCATION: Cytoplasm, cytosol {ECO:0000305|PubMed:27528193}.
sequence:

opentargets:
cytosol [GO:0005829]; nucleoplasm [GO:0005654]; aspartic-type endopeptidase activity [GO:0004190]; identical protein binding [GO:0042802]; ubiquitin binding [GO:0043130]; protein processing [GO:0016485]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q5TDH0-1; Sequence=Displayed; Name=2; IsoId=Q5TDH0-2; Sequence=VSP_025297; Note=No experimental confirmation available.; Name=3; IsoId=Q5TDH0-3; Sequence=VSP_025298; 


uniprotID: Q8NEL9
geneSymbol: DDHD1
reactome: R-HSA-1483166;
length: 900
go: ENSG00000100523;
location: SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:15623529}.
name:
Phospholipase DDHD1 (EC 3.1.1.-) (DDHD domain-containing protein 1) (Phosphatidic acid-preferring phospholipase A1 homolog) (PA-PLA1)

sequence:

opentargets:
cytosol [GO:0005829]; metal ion binding [GO:0046872]; phospholipase activity [GO:0004620]; lipid catabolic process [GO:0016042]; positive regulation of mitochondrial fission [GO:0090141]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=Q8NEL9-1; Sequence=Displayed; Name=2; IsoId=Q8NEL9-2; Sequence=VSP_008629; Name=3; IsoId=Q8NEL9-3; Sequence=VSP_008628, VSP_008629; Note=No experimental confirmation available.; Name=4; IsoId=Q8NEL9-4; Sequence=VSP_045340, VSP_008629; Note=No experimental confirmation available.; 


uniprotID: Q9NX09
geneSymbol: DDIT4
reactome: R-HSA-5628897;
pdb: 3LQ9;
length: 232
go: ENSG00000168209;
name:
DNA damage-inducible transcript 4 protein (HIF-1 responsive protein RTP801) (Protein regulated in development and DNA damage response 1) (REDD-1)

sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; intracellular [GO:0005622]; mitochondrion [GO:0005739]; 14-3-3 protein binding [GO:0071889]; brain development [GO:0007420]; cell proliferation [GO:0008283]; cellular response to dexamethasone stimulus [GO:0071549]; defense response to virus [GO:0051607]; intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator [GO:0042771]; negative regulation of glycolytic process [GO:0045820]; negative regulation of intracellular signal transduction [GO:1902532]; negative regulation of peptidyl-serine phosphorylation [GO:0033137]; negative regulation of peptidyl-threonine phosphorylation [GO:0010801]; negative regulation of TOR signaling [GO:0032007]; neuron differentiation [GO:0030182]; neuron migration [GO:0001764]; neurotrophin TRK receptor signaling pathway [GO:0048011]; positive regulation of neuron death [GO:1901216]; protein-containing complex disassembly [GO:0032984]; reactive oxygen species metabolic process [GO:0072593]; response to hypoxia [GO:0001666]

location:
SUBCELLULAR LOCATION: Mitochondrion {ECO:0000250}. Cytoplasm, cytosol {ECO:0000269|PubMed:12453409}.


uniprotID: Q96D03
geneSymbol: DDIT4L
length: 193
go: ENSG00000145358;
opentargets: cytoplasm [GO:0005737]; negative regulation of signal transduction [GO:0009968]
snps: rs11553154
location: SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250}.
name:
DNA damage-inducible transcript 4-like protein (HIF-1 responsive protein RTP801-like) (Protein regulated in development and DNA damage response 2) (REDD-2)

sequence:
MVATGSLSSKNPASISELLDCGYHPESLLSDFDYWDYVVPEPNLNEVIFEESTCQNLVKMLENCLSKSKQTKLGCSKVLVPEKLTQRIAQDVLRLSSTEPCGLRGCVMHVNLEIENVCKKLDRIVCDSSVVPTFELTLVFKQENCSWTSFRDFFFSRGRFSSGFRRTLILSSGFRLVKKKLYSLIGTTVIEGS


uniprotID: Q5H9U9
geneSymbol: DDX60L
name: Probable ATP-dependent RNA helicase DDX60-like (EC 3.6.4.13) (DEAD box protein 60-like)
length: 1706
opentargets: ATP binding [GO:0005524]; helicase activity [GO:0004386]; RNA binding [GO:0003723]
snps: rs12507582 rs10029536 rs13151700 rs2319850 rs17540213
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q5H9U9-1; Sequence=Displayed; Name=2; IsoId=Q5H9U9-2; Sequence=VSP_040820, VSP_040821, VSP_040822; 


uniprotID: O75618
geneSymbol: DEDD
length: 318
go: ENSG00000158796;
name:
Death effector domain-containing protein (DEDPro1) (Death effector domain-containing testicular molecule) (FLDED-1)

sequence:

opentargets:
cytoplasm [GO:0005737]; nucleolus [GO:0005730]; DNA binding [GO:0003677]; extrinsic apoptotic signaling pathway via death domain receptors [GO:0008625]; regulation of apoptotic process [GO:0042981]; spermatogenesis [GO:0007283]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=O75618-1; Sequence=Displayed; Name=2; IsoId=O75618-2; Sequence=VSP_003846; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasm. Nucleus, nucleolus {ECO:0000250}. Note=Translocated to the nucleus during CD95-mediated apoptosis where it is localized in the nucleoli (By similarity). Following apoptosis induction, the mono and/or diubiquitination form increases and forms filamentous structures that colocalize with KRT8 and KRT18 intermediate filament network in simple epithelial cells. {ECO:0000250}.


uniprotID: Q01524
geneSymbol: DEFA6
reactome: R-HSA-1461973;R-HSA-1462054;
pdb: 1ZMQ;3QTE;
name: Defensin-6 (Defensin, alpha 6)
length: 100
go: ENSG00000164822;
location: SUBCELLULAR LOCATION: Secreted.
sequence:
MRTLTILTAVLLVALQAKAEPLQAEDDPLQAKAYEADAQEQRGANDQDFAVSFAEDASSSLRALGSTRAFTCHCRRSCYSTEYSYGTCTVMGINHRFCCL

opentargets:
extracellular region [GO:0005576]; extracellular space [GO:0005615]; Golgi lumen [GO:0005796]; protein homodimerization activity [GO:0042803]; antibacterial humoral response [GO:0019731]; antimicrobial humoral immune response mediated by antimicrobial peptide [GO:0061844]; antimicrobial humoral response [GO:0019730]; cellular response to lipopolysaccharide [GO:0071222]; defense response to fungus [GO:0050832]; defense response to Gram-negative bacterium [GO:0050829]; defense response to Gram-positive bacterium [GO:0050830]; innate immune response in mucosa [GO:0002227]; killing of cells of other organism [GO:0031640]; membrane disruption in other organism [GO:0051673]


uniprotID: Q8NFT6
geneSymbol: DBF4B
length: 615
go: ENSG00000161692;
name:
Protein DBF4 homolog B (Activator of S phase kinase-like protein 1) (ASK-like protein 1) (Chiffon homolog B) (Dbf4-related factor 1)

sequence:

opentargets:
aggresome [GO:0016235]; cytoplasm [GO:0005737]; Dbf4-dependent protein kinase complex [GO:0031431]; intracellular membrane-bounded organelle [GO:0043231]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; nucleic acid binding [GO:0003676]; protein kinase activator activity [GO:0030295]; protein kinase binding [GO:0019901]; protein serine/threonine kinase activator activity [GO:0043539]; zinc ion binding [GO:0008270]; cell cycle [GO:0007049]; positive regulation of cell proliferation [GO:0008284]; positive regulation of DNA replication [GO:0045740]; positive regulation of G2/M transition of mitotic cell cycle [GO:0010971]; positive regulation of nuclear cell cycle DNA replication [GO:0010571]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=Q8NFT6-1; Sequence=Displayed; Name=2; IsoId=Q8NFT6-2; Sequence=VSP_031018, VSP_031019; Name=3; IsoId=Q8NFT6-3; Sequence=VSP_031014, VSP_031017; Note=No experimental confirmation available.; Name=4; IsoId=Q8NFT6-4; Sequence=VSP_031015, VSP_031016; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:12065429, ECO:0000269|PubMed:15668232}. Note=Predominantly found in soluble fraction but not in the chromatin-bound fraction.


uniprotID: Q9H9R9
geneSymbol: DBNDD1
name: Dysbindin domain-containing protein 1
length: 158
go: ENSG00000003249;
opentargets: cytoplasm [GO:0005737]
sequence:
MEPPEGAGTGEIVKEAEVPQAALGVPAQGTGDNGHTPVEEEVGGIPVPAPGLLQVTERRQPLSSVSSLEVHFDLLDLTELTDMSDQELAEVFADSDDENLNTESPAGLHPLPRAGYLRSPSWTRTRAEQSHEKQPLGDPERQATVLDTFLTVERPQED

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q9H9R9-1; Sequence=Displayed; Name=2; IsoId=Q9H9R9-2; Sequence=VSP_026214; Name=3; IsoId=Q9H9R9-3; Sequence=VSP_037541; 


uniprotID: Q92904
geneSymbol: DAZL
length: 295
go: ENSG00000092345;
snps: rs11710967 rs121918346
name:
Deleted in azoospermia-like (DAZ homolog) (DAZ-like autosomal) (Deleted in azoospermia-like 1) (SPGY-like-autosomal)

sequence:

opentargets:
cytoplasm [GO:0005737]; intracellular [GO:0005622]; nucleus [GO:0005634]; polysome [GO:0005844]; protein-containing complex [GO:0032991]; identical protein binding [GO:0042802]; mRNA 3'-UTR binding [GO:0003730]; RNA binding [GO:0003723]; translation activator activity [GO:0008494]; female meiosis II [GO:0007147]; germ cell development [GO:0007281]; multicellular organism development [GO:0007275]; oocyte maturation [GO:0001556]; positive regulation of meiotic nuclear division [GO:0045836]; positive regulation of translational initiation [GO:0045948]; spermatogenesis [GO:0007283]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q92904-1; Sequence=Displayed; Name=2; IsoId=Q92904-2; Sequence=VSP_043208; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250}. Nucleus {ECO:0000250}. Note=Predominantly cytoplasmic. Nuclear in spermatogonia until near the end of the meiotic prophase and cytoplasmic localization from then onward. {ECO:0000250}.


uniprotID: Q9BVC3
geneSymbol: DSCC1
name: Sister chromatid cohesion protein DCC1 (Defective in sister chromatid cohesion protein 1 homolog)
length: 393
go: ENSG00000136982;
snps: rs1055130
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000250}.
sequence:

opentargets:
chromatin [GO:0000785]; chromosome, centromeric region [GO:0000775]; Ctf18 RFC-like complex [GO:0031390]; nucleoplasm [GO:0005654]; DNA binding [GO:0003677]; DNA replication [GO:0006260]; maintenance of mitotic sister chromatid cohesion [GO:0034088]; positive regulation of DNA-directed DNA polymerase activity [GO:1900264]; post-translational protein acetylation [GO:0034421]; regulation of DNA replication [GO:0006275]


uniprotID: Q3SXM0
geneSymbol: DCAF4L1
name: DDB1- and CUL4-associated factor 4-like protein 1 (WD repeat-containing protein 21B)
length: 396
go: ENSG00000182308;
sequence:


uniprotID: Q5TAQ9
geneSymbol: DCAF8
reactome: R-HSA-8951664;
pdb: 3I8E;
name: DDB1- and CUL4-associated factor 8 (WD repeat-containing protein 42A)
length: 597
go: ENSG00000132716;
snps: rs587777425
sequence:

opentargets:
Cul4-RING E3 ubiquitin ligase complex [GO:0080008]; cytoplasm [GO:0005737]; cytosol [GO:0005829]; mitochondrion [GO:0005739]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; post-translational protein modification [GO:0043687]; protein ubiquitination [GO:0016567]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q5TAQ9-1; Sequence=Displayed; Name=2; IsoId=Q5TAQ9-2; Sequence=VSP_027264, VSP_027265; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:22500989}. Cytoplasm {ECO:0000269|PubMed:22500989}. Note=It shuttles between the nucleus and the cytoplasm. Nuclear import is mediated by KPNA1 and KPNB1 under the regulation of nuclear GTPase RAN. Nuclear export to the cytoplasm is XPO1 dependent. {ECO:0000269|PubMed:22500989}.


uniprotID: P81605
geneSymbol: DCD
reactome: R-HSA-6803157;
pdb: 2KSG;2NDK;2YMK;
name: Dermcidin (EC 3.4.-.-) (Preproteolysin) [Cleaved into: Survival-promoting peptide; DCD-1]
length: 110
go: ENSG00000161634;
location: SUBCELLULAR LOCATION: Secreted.
sequence:
MRFMTLLFLTALAGALVCAYDPEAASAPGSGNPCHEASAAQKENAGEDPGLARQAPKPRKQRSSLLEKGLDGAKKAVGGLGKLGKDAVEDLESVGKGAVHDVKDVLDSVL

opentargets:
extracellular exosome [GO:0070062]; extracellular region [GO:0005576]; extracellular space [GO:0005615]; peptidase activity [GO:0008233]; RNA binding [GO:0003723]; antimicrobial humoral immune response mediated by antimicrobial peptide [GO:0061844]; antimicrobial humoral response [GO:0019730]; defense response to bacterium [GO:0042742]; defense response to fungus [GO:0050832]; defense response to Gram-negative bacterium [GO:0050829]; defense response to Gram-positive bacterium [GO:0050830]; killing of cells of other organism [GO:0031640]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=P81605-1; Sequence=Displayed; Name=2; IsoId=P81605-2; Sequence=VSP_043767; Name=3; IsoId=P81605-3; Sequence=VSP_043765, VSP_043766; 


uniprotID: Q9UHG0
geneSymbol: DCDC2
pdb: 2DNF;
name: Doublecortin domain-containing protein 2 (Protein RU2S)
length: 476
go: ENSG00000146038;
snps: rs33914824 rs2274305 rs794729665 rs9460973
sequence:

opentargets:
axoneme [GO:0005930]; cilium [GO:0005929]; cytoplasm [GO:0005737]; cytosol [GO:0005829]; kinocilium [GO:0060091]; microtubule [GO:0005874]; microtubule cytoskeleton [GO:0015630]; microtubule organizing center [GO:0005815]; mitotic spindle [GO:0072686]; nucleoplasm [GO:0005654]; kinesin binding [GO:0019894]; cellular defense response [GO:0006968]; cilium assembly [GO:0060271]; dendrite morphogenesis [GO:0048813]; intracellular signal transduction [GO:0035556]; neuron migration [GO:0001764]; positive regulation of smoothened signaling pathway [GO:0045880]; regulation of cilium assembly [GO:1902017]; regulation of Wnt signaling pathway [GO:0030111]; sensory perception of sound [GO:0007605]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9UHG0-1; Sequence=Displayed; Name=2; IsoId=Q9UHG0-2; Sequence=VSP_014670, VSP_014671; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cell projection, cilium {ECO:0000269|PubMed:25601850, ECO:0000269|PubMed:27319779}. Cytoplasm, cytoskeleton, cilium axoneme {ECO:0000269|PubMed:25557784, ECO:0000269|PubMed:27319779}. Cell projection, kinocilium {ECO:0000250|UniProtKB:D3ZR10}. Cytoplasm, cytoskeleton {ECO:0000250|UniProtKB:D3ZR10}. Note=Localizes to the ciliary axoneme and to mitotic spindle fibers in a cell-cycle-dependent manner. {ECO:0000269|PubMed:25557784}.


uniprotID: Q8TF63
geneSymbol: DCANP1
length: 244
go: ENSG00000251380;
snps: rs1031844 rs12520809
name:
Dendritic cell nuclear protein 1 (Dendritic cell nuclear protein-1) (Dendritic cell-associated nuclear protein)

sequence:

opentargets:
cytoplasm [GO:0005737]; nucleus [GO:0005634]; DNA binding [GO:0003677]; auditory behavior [GO:0031223]; cochlea development [GO:0090102]; cochlea morphogenesis [GO:0090103]; craniofacial suture morphogenesis [GO:0097094]; genitalia development [GO:0048806]; genitalia morphogenesis [GO:0035112]; hard palate morphogenesis [GO:1905748]; inner ear development [GO:0048839]; inner ear morphogenesis [GO:0042472]; learned vocalization behavior [GO:0098583]; mastication [GO:0071626]; negative regulation of relaxation of muscle [GO:1901078]; negative regulation of saliva secretion [GO:1905747]; neuromuscular process controlling balance [GO:0050885]; peristalsis [GO:0030432]; regulation of muscle organ development [GO:0048634]; thorax and anterior abdomen determination [GO:0007356]; trigeminal nerve development [GO:0021559]; vestibulocochlear nerve formation [GO:0021650]

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:11798177, ECO:0000269|PubMed:20693543}. Cytoplasm {ECO:0000269|PubMed:20693543}. Note=Particularly on the periphery. Colocalizes with corticotropin-releasing hormone (CRH) in parvocellular neurons in the paraventricular nucleus. {ECO:0000269|PubMed:20693543}.


uniprotID: Q8IZD4
geneSymbol: DCP1B
reactome: R-HSA-430039;
name: mRNA-decapping enzyme 1B (EC 3.-.-.-)
length: 617
go: ENSG00000151065;
snps: rs12423058 rs34730825 rs2470449 rs715146
location: SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:15067023}. Nucleus {ECO:0000250}.
sequence:

opentargets:
cytosol [GO:0005829]; intracellular membrane-bounded organelle [GO:0043231]; membrane [GO:0016020]; nucleus [GO:0005634]; P-body [GO:0000932]; enzyme activator activity [GO:0008047]; hydrolase activity [GO:0016787]; mRNA binding [GO:0003729]; deadenylation-dependent decapping of nuclear-transcribed mRNA [GO:0000290]; deadenylation-independent decapping of nuclear-transcribed mRNA [GO:0031087]; exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay [GO:0043928]; nuclear-transcribed mRNA catabolic process, nonsense-mediated decay [GO:0000184]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q8IZD4-1; Sequence=Displayed; Name=2; IsoId=Q8IZD4-2; Sequence=VSP_056044; Note=No experimental confirmation available.; 


uniprotID: Q9H816
geneSymbol: DCLRE1B
reactome: R-HSA-6783310;
pdb: 3BUA;5AHO;
length: 532
go: ENSG00000118655;
snps: rs28381069 rs11552449 rs28381079 rs35397235
name:
5' exonuclease Apollo (EC 3.1.-.-) (DNA cross-link repair 1B protein) (SNM1 homolog B) (SNMIB) (hSNM1B)

sequence:

opentargets:
centrosome [GO:0005813]; chromosome, telomeric region [GO:0000781]; cytoplasm [GO:0005737]; nuclear body [GO:0016604]; nuclear chromosome, telomeric region [GO:0000784]; nucleoplasm [GO:0005654]; 5'-3' exodeoxyribonuclease activity [GO:0035312]; 5'-3' exonuclease activity [GO:0008409]; damaged DNA binding [GO:0003684]; protein homodimerization activity [GO:0042803]; protein-containing complex binding [GO:0044877]; double-strand break repair via nonhomologous end joining [GO:0006303]; interstrand cross-link repair [GO:0036297]; mitotic cell cycle checkpoint [GO:0007093]; protection from non-homologous end joining at telomere [GO:0031848]; telomere capping [GO:0016233]; telomere maintenance [GO:0000723]; telomere maintenance via telomere lengthening [GO:0010833]; telomeric 3' overhang formation [GO:0031860]; telomeric loop formation [GO:0031627]

location:
SUBCELLULAR LOCATION: Chromosome, telomere. Nucleus. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome. Note=Mainly localizes to telomeres, recruited via its interaction with TERF2. During mitosis, localizes to the centrosome.


uniprotID: Q96SD1
geneSymbol: DCLRE1C
reactome: R-HSA-5693571;
pdb: 3W1B;3W1G;4HTP;
length: 692
go: ENSG00000152457;
snps: rs121908159 rs41297016 rs41297018 rs35441642 rs12768894 rs41298896 rs41299658
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:12055248, ECO:0000269|PubMed:15071507}.
name:
Protein artemis (EC 3.1.-.-) (DNA cross-link repair 1C protein) (Protein A-SCID) (SNM1 homolog C) (hSNM1C) (SNM1-like protein)

sequence:

opentargets:
Golgi apparatus [GO:0005794]; nonhomologous end joining complex [GO:0070419]; nuclear chromosome, telomeric region [GO:0000784]; nucleoplasm [GO:0005654]; 5'-3' exodeoxyribonuclease activity [GO:0035312]; 5'-3' exonuclease activity [GO:0008409]; damaged DNA binding [GO:0003684]; endonuclease activity [GO:0004519]; single-stranded DNA endodeoxyribonuclease activity [GO:0000014]; adaptive immune response [GO:0002250]; B cell differentiation [GO:0030183]; double-strand break repair via nonhomologous end joining [GO:0006303]; interstrand cross-link repair [GO:0036297]; protection from non-homologous end joining at telomere [GO:0031848]; response to ionizing radiation [GO:0010212]; V(D)J recombination [GO:0033151]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=Q96SD1-1; Sequence=Displayed; Name=2; Synonyms=SCIDA; IsoId=Q96SD1-2; Sequence=VSP_014888; Name=3; IsoId=Q96SD1-3; Sequence=VSP_014889, VSP_014890; Name=4; IsoId=Q96SD1-4; Sequence=VSP_014891, VSP_014892; 


uniprotID: Q9BW61
geneSymbol: DDA1
reactome: R-HSA-8951664;
name: DET1- and DDB1-associated protein 1 (Placenta cross-immune reaction antigen 1) (PCIA-1)
length: 102
go: ENSG00000130311;
sequence:
MADFLKGLPVYNKSNFSRFHADSVCKASNRRPSVYLPTREYPSEQIIVTEKTNILLRYLHQQWDKKNAAKKRDQEQVELEGESSAPPRKVARTDSPDMHEDT

opentargets:
Cul4-RING E3 ubiquitin ligase complex [GO:0080008]; nucleoplasm [GO:0005654]; post-translational protein modification [GO:0043687]; regulation of proteasomal ubiquitin-dependent protein catabolic process [GO:0032434]


uniprotID: O94760
geneSymbol: DDAH1
reactome: R-HSA-203615;
pdb: 2JAI;2JAJ;3I2E;3I4A;3P8E;3P8P;6DGE;
length: 285
go: ENSG00000153904;
drug: DB00155;
name:
N(G),N(G)-dimethylarginine dimethylaminohydrolase 1 (DDAH-1) (Dimethylarginine dimethylaminohydrolase 1) (EC 3.5.3.18) (DDAHI) (Dimethylargininase-1)

sequence:

opentargets:
cytosol [GO:0005829]; extracellular exosome [GO:0070062]; amino acid binding [GO:0016597]; catalytic activity [GO:0003824]; dimethylargininase activity [GO:0016403]; metal ion binding [GO:0046872]; arginine catabolic process [GO:0006527]; arginine metabolic process [GO:0006525]; citrulline metabolic process [GO:0000052]; negative regulation of cell proliferation [GO:0008285]; negative regulation of cellular response to hypoxia [GO:1900038]; negative regulation of vascular permeability [GO:0043116]; nitric oxide mediated signal transduction [GO:0007263]; positive regulation of angiogenesis [GO:0045766]; positive regulation of nitric oxide biosynthetic process [GO:0045429]; regulation of nitric-oxide synthase activity [GO:0050999]; regulation of systemic arterial blood pressure [GO:0003073]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=O94760-1; Sequence=Displayed; Name=2; IsoId=O94760-2; Sequence=VSP_043813; 


uniprotID: O94830
geneSymbol: DDHD2
reactome: R-HSA-1483166;
length: 711
go: ENSG00000085788;
snps: rs2306899 rs375168720
name:
Phospholipase DDHD2 (EC 3.1.1.-) (DDHD domain-containing protein 2) (KIAA0725p) (SAM, WWE and DDHD domain-containing protein 1)

sequence:

opentargets:
COPII-coated ER to Golgi transport vesicle [GO:0030134]; cytosol [GO:0005829]; endoplasmic reticulum-Golgi intermediate compartment [GO:0005793]; Golgi apparatus [GO:0005794]; membrane [GO:0016020]; microtubule organizing center [GO:0005815]; metal ion binding [GO:0046872]; phospholipase activity [GO:0004620]; triglyceride lipase activity [GO:0004806]; ER to Golgi vesicle-mediated transport [GO:0006888]; lipid droplet organization [GO:0034389]; locomotory behavior [GO:0007626]; macromolecule metabolic process [GO:0043170]; positive regulation of mitochondrial fission [GO:0090141]; triglyceride catabolic process [GO:0019433]; visual learning [GO:0008542]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=O94830-1; Sequence=Displayed; Name=2; IsoId=O94830-2; Sequence=VSP_056087; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasm, cytosol. Endoplasmic reticulum-Golgi intermediate compartment. Golgi apparatus, cis-Golgi network. Note=Cycles between the Golgi apparatus and the cytosol. DDHD2 recruitment to the Golgi/endoplasmic reticulum-Golgi intermediate compartment (ERGIC) is regulated by the levels of phosphoinositides, including PI(4)P.


uniprotID: Q92466
geneSymbol: DDB2
reactome: R-HSA-5689880;R-HSA-5696394;R-HSA-5696395;R-HSA-5696400;R-HSA-6796648;R-HSA-8951664;
pdb: 3EI4;3I7L;4E54;4E5Z;
length: 427
go: ENSG00000134574;
snps: rs4647750 rs121434639 rs121434640 rs4647751
name:
DNA damage-binding protein 2 (DDB p48 subunit) (DDBb) (Damage-specific DNA-binding protein 2) (UV-damaged DNA-binding protein 2) (UV-DDB 2)

sequence:

opentargets:
cell junction [GO:0030054]; Cul4-RING E3 ubiquitin ligase complex [GO:0080008]; Cul4B-RING E3 ubiquitin ligase complex [GO:0031465]; nucleoplasm [GO:0005654]; protein-containing complex [GO:0032991]; damaged DNA binding [GO:0003684]; DNA binding [GO:0003677]; protein-containing complex binding [GO:0044877]; DNA repair [GO:0006281]; global genome nucleotide-excision repair [GO:0070911]; histone H2A monoubiquitination [GO:0035518]; nucleotide-excision repair [GO:0006289]; nucleotide-excision repair, DNA damage recognition [GO:0000715]; nucleotide-excision repair, DNA incision [GO:0033683]; nucleotide-excision repair, DNA incision, 5'-to lesion [GO:0006296]; nucleotide-excision repair, preincision complex assembly [GO:0006294]; nucleotide-excision repair, preincision complex stabilization [GO:0006293]; post-translational protein modification [GO:0043687]; protein autoubiquitination [GO:0051865]; protein deubiquitination [GO:0016579]; protein polyubiquitination [GO:0000209]; pyrimidine dimer repair [GO:0006290]; response to UV [GO:0009411]; response to UV-B [GO:0010224]; UV-damage excision repair [GO:0070914]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=5;  Name=1; IsoId=Q92466-1; Sequence=Displayed; Name=D1; IsoId=Q92466-2; Sequence=VSP_014675; Name=D2; IsoId=Q92466-3; Sequence=VSP_014676, VSP_014677; Name=D3; IsoId=Q92466-4; Sequence=VSP_014674; Name=D4; IsoId=Q92466-5; Sequence=VSP_014678, VSP_014679; 

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:10777490, ECO:0000269|PubMed:10777491, ECO:0000269|PubMed:11705987, ECO:0000269|PubMed:12944386, ECO:0000269|PubMed:14751237, ECO:0000269|PubMed:16473935, ECO:0000269|PubMed:16713579, ECO:0000269|PubMed:17635991, ECO:0000269|PubMed:18593899}. Note=Accumulates at sites of DNA damage following UV irradiation.


uniprotID: P35638
geneSymbol: DDIT3
reactome: R-HSA-380994;R-HSA-381183;
length: 169
go: ENSG00000175197;
name:
DNA damage-inducible transcript 3 protein (DDIT-3) (C/EBP zeta) (C/EBP-homologous protein) (CHOP) (C/EBP-homologous protein 10) (CHOP-10) (CCAAT/enhancer-binding protein homologous protein) (Growth arrest and DNA damage-inducible protein GADD153)

sequence:
MAAESLPFSFGTLSSWELEAWYEDLQEVLSSDENGGTYVSPPGNEEEESKIFTTLDPASLAWLTEEEPEPAEVTSTSQSPHSPDSSQSSLAQEEEEEDQGRTRKRKQSGHSPARAGKQRMKEKEQENERKVAQLAEENERLKQEIERLTREVEATRRALIDRMVNLHQA

opentargets:
CHOP-ATF3 complex [GO:1990622]; CHOP-ATF4 complex [GO:1990617]; CHOP-C/EBP complex [GO:0036488]; cytoplasm [GO:0005737]; cytosol [GO:0005829]; late endosome [GO:0005770]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; protein-DNA complex [GO:0032993]; transcription factor AP-1 complex [GO:0035976]; cAMP response element binding protein binding [GO:0008140]; DNA binding [GO:0003677]; DNA-binding transcription factor activity [GO:0003700]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; leucine zipper domain binding [GO:0043522]; protein heterodimerization activity [GO:0046982]; protein homodimerization activity [GO:0042803]; proximal promoter DNA-binding transcription activator activity, RNA polymerase II-specific [GO:0001077]; RNA polymerase II proximal promoter sequence-specific DNA binding [GO:0000978]; transcription corepressor activity [GO:0003714]; transcription factor binding [GO:0008134]; transcription regulatory region DNA binding [GO:0044212]; transcription regulatory region sequence-specific DNA binding [GO:0000976]; ATF6-mediated unfolded protein response [GO:0036500]; blood vessel maturation [GO:0001955]; cell cycle arrest [GO:0007050]; cell redox homeostasis [GO:0045454]; cellular response to DNA damage stimulus [GO:0006974]; ER overload response [GO:0006983]; establishment of protein localization to mitochondrion [GO:0072655]; intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress [GO:0070059]; intrinsic apoptotic signaling pathway in response to nitrosative stress [GO:1990442]; mRNA transcription by RNA polymerase II [GO:0042789]; negative regulation of canonical Wnt signaling pathway [GO:0090090]; negative regulation of cold-induced thermogenesis [GO:0120163]; negative regulation of CREB transcription factor activity [GO:0032792]; negative regulation of determination of dorsal identity [GO:2000016]; negative regulation of DNA-binding transcription factor activity [GO:0043433]; negative regulation of fat cell differentiation [GO:0045599]; negative regulation of myoblast differentiation [GO:0045662]; negative regulation of protein kinase B signaling [GO:0051898]; negative regulation of RNA polymerase II regulatory region sequence-specific DNA binding [GO:1903026]; negative regulation of transcription by RNA polymerase II [GO:0000122]; negative regulation of transcription, DNA-templated [GO:0045892]; PERK-mediated unfolded protein response [GO:0036499]; positive regulation of DNA-binding transcription factor activity [GO:0051091]; positive regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway [GO:1902237]; positive regulation of interleukin-8 production [GO:0032757]; positive regulation of neuron apoptotic process [GO:0043525]; positive regulation of transcription by RNA polymerase II [GO:0045944]; positive regulation of transcription from RNA polymerase II promoter in response to endoplasmic reticulum stress [GO:1990440]; positive regulation of transcription, DNA-templated [GO:0045893]; proteasome-mediated ubiquitin-dependent protein catabolic process [GO:0043161]; protein complex oligomerization [GO:0051259]; regulation of DNA-templated transcription in response to stress [GO:0043620]; regulation of transcription involved in anterior/posterior axis specification [GO:0044324]; regulation of transcription, DNA-templated [GO:0006355]; release of sequestered calcium ion into cytosol [GO:0051209]; response to endoplasmic reticulum stress [GO:0034976]; response to starvation [GO:0042594]; response to unfolded protein [GO:0006986]; Wnt signaling pathway [GO:0016055]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing, Alternative initiation; Named isoforms=3;  Name=1; IsoId=P35638-1; Sequence=Displayed; Name=2; IsoId=P35638-2; Sequence=VSP_047277; Name=AltDDIT3; IsoId=P0DPQ6-1; Sequence=External; Note=Product of the upstream open reading frame of this bicistronic gene. {ECO:0000305|PubMed:29083303}; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:29083303}. Nucleus {ECO:0000269|PubMed:29083303}. Note=Present in the cytoplasm under non-stressed conditions and ER stress leads to its nuclear accumulation.


uniprotID: P22680
geneSymbol: CYP7A1
reactome: R-HSA-192105;R-HSA-193368;R-HSA-193807;R-HSA-1989781;R-HSA-211976;
pdb: 3DAX;3SN5;3V8D;
length: 504
go: ENSG00000167910;
snps: rs62621283 rs8192874 rs8192875
name:
Cholesterol 7-alpha-monooxygenase (EC 1.14.14.23) (CYPVII) (Cholesterol 7-alpha-hydroxylase) (Cytochrome P450 7A1)

sequence:

opentargets:
endoplasmic reticulum membrane [GO:0005789]; intracellular membrane-bounded organelle [GO:0043231]; organelle membrane [GO:0031090]; cholesterol 7-alpha-monooxygenase activity [GO:0008123]; heme binding [GO:0020037]; iron ion binding [GO:0005506]; bile acid biosynthetic process [GO:0006699]; cellular response to cholesterol [GO:0071397]; cellular response to glucose stimulus [GO:0071333]; cholesterol catabolic process [GO:0006707]; cholesterol homeostasis [GO:0042632]; negative regulation of fatty acid biosynthetic process [GO:0045717]; positive regulation of cholesterol biosynthetic process [GO:0045542]; regulation of bile acid biosynthetic process [GO:0070857]; regulation of lipid metabolic process [GO:0019216]; sterol metabolic process [GO:0016125]


uniprotID: Q9BZP3
geneSymbol: LINC00470
name: Putative uncharacterized protein encoded by LINC00470
sequence: MVRHPYSVQTQLSTEAKAIWRSMQQQETNLLANLTTNDARDNSKDFQNSKVGAAATSRDEGCNCPIIGEIVISCYWLFEIPPLISE
length: 86
isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q9BZP3-1; Sequence=Displayed; Name=2; IsoId=Q9BZP3-2; Sequence=VSP_032988; Name=3; IsoId=Q9BZP3-3; Sequence=VSP_032987, VSP_032989; 


uniprotID: A6NIL9
geneSymbol: CRYM-AS1
name: Putative uncharacterized protein CRYM-AS1 (CRYM antisense RNA 1) (CRYM antisense gene protein 1)
length: 109
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Single-pass membrane protein {ECO:0000305}.
sequence:
MDFSESEKFMVLLWKNFILKRRRCIALVVEMVLTFLFSAALLATRSVITINKNGPFDFAAQPVDEVPFYITASLISPSPLELAYVPSRSTVVQGIIERVKMDLNPQMKG

opentargets:
integral component of membrane [GO:0016021]; ATPase activity, coupled to transmembrane movement of substances [GO:0042626]


uniprotID: P11712
geneSymbol: CYP2C9
reactome: R-HSA-211981;R-HSA-211999;R-HSA-2142670;R-HSA-2142816;R-HSA-9027307;
pdb: 1OG2;1OG5;1R9O;4NZ2;5A5I;5A5J;5K7K;5W0C;5X23;5X24;5XXI;
length: 490
go: ENSG00000138109;
name:
Cytochrome P450 2C9 (EC 1.14.14.-) ((R)-limonene 6-monooxygenase) (EC 1.14.14.53) ((S)-limonene 6-monooxygenase) (EC 1.14.14.51) ((S)-limonene 7-monooxygenase) (EC 1.14.14.52) (CYPIIC9) (Cholesterol 25-hydroxylase) (EC 1.14.14.-) (Cytochrome P-450MP) (Cytochrome P450 MP-4) (Cytochrome P450 MP-8) (Cytochrome P450 PB-1) (S-mephenytoin 4-hydroxylase)

sequence:

opentargets:
cytoplasm [GO:0005737]; endoplasmic reticulum membrane [GO:0005789]; intracellular membrane-bounded organelle [GO:0043231]; organelle membrane [GO:0031090]; arachidonic acid epoxygenase activity [GO:0008392]; caffeine oxidase activity [GO:0034875]; drug binding [GO:0008144]; heme binding [GO:0020037]; iron ion binding [GO:0005506]; monooxygenase activity [GO:0004497]; oxidoreductase activity [GO:0016491]; oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen [GO:0016712]; steroid hydroxylase activity [GO:0008395]; cellular amide metabolic process [GO:0043603]; drug catabolic process [GO:0042737]; drug metabolic process [GO:0017144]; epoxygenase P450 pathway [GO:0019373]; exogenous drug catabolic process [GO:0042738]; long-chain fatty acid biosynthetic process [GO:0042759]; monocarboxylic acid metabolic process [GO:0032787]; monoterpenoid metabolic process [GO:0016098]; omega-hydroxylase P450 pathway [GO:0097267]; organic acid metabolic process [GO:0006082]; oxidation-reduction process [GO:0055114]; oxidative demethylation [GO:0070989]; steroid metabolic process [GO:0008202]; urea metabolic process [GO:0019627]; xenobiotic metabolic process [GO:0006805]

drug:
DB02507;DB05812;DB06736;DB01418;DB00316;DB00945;DB06594;DB00969;DB00404;DB01424;DB01118;DB00321;DB00381;DB00613;DB00701;DB01217;DB01435;DB06605;DB00673;DB04557;DB01274;DB06413;DB06697;DB01072;DB01076;DB01117;DB00972;DB00307;DB01128;DB00188;DB00559;DB00835;DB00921;DB01156;DB08875;DB00201;DB00796;DB01101;DB00564;DB00748;DB01136;DB00482;DB09063;DB00439;DB00446;DB00672;DB00169;DB00501;DB00568;DB00604;DB00515;DB04920;DB00758;DB00257;DB00363;DB00907;DB01394;DB05219;DB01176;DB00531;DB00091;DB06292;DB00250;DB00705;DB00967;DB01234;DB01191;DB04856;DB00514;DB00647;DB00829;DB00586;DB01144;DB00266;DB00255;DB00343;DB01075;DB00822;DB00757;DB00843;DB00988;DB00869;DB01142;DB00470;DB00625;DB00216;DB08899;DB00668;DB01240;DB00876;DB00783;DB00655;DB04574;DB00402;DB00898;DB00749;DB01628;DB06414;DB01023;DB01039;DB01195;DB00322;DB00196;DB04841;DB01544;DB00544;DB00472;DB00712;DB01095;DB00176;DB00983;DB01320;DB06741;DB00317;DB01241;DB01381;DB01120;DB00222;DB01067;DB01016;DB01018;DB00502;DB01159;DB03317;DB01355;DB05381;DB00062;DB00327;DB01050;DB01177;DB01181;DB00619;DB00224;DB00328;DB01029;DB00951;DB09570;DB01221;DB06738;DB01026;DB01009;DB00448;DB01097;DB11560;DB04725;DB00281;DB01601;DB00455;DB06725;DB00678;DB00227;DB09280;DB01283;DB00603;DB00784;DB01065;DB00814;DB00532;DB01357;DB00333;DB00703;DB00763;DB01028;DB00916;DB01110;DB00370;DB01171;DB00745;DB00471;DB11605;DB00788;DB00731;DB00220;DB09048;DB00238;DB00622;DB06803;DB00184;DB01115;DB04868;DB00665;DB06712;DB00540;DB00334;DB09080;DB00338;DB00904;DB04938;DB00991;DB01229;DB00213;DB00617;DB08439;DB00715;DB00850;DB03783;DB01174;DB00946;DB00191;DB00812;DB00252;DB01132;DB00554;DB08860;DB01411;DB06209;DB00175;DB00794;DB01032;DB00396;DB01131;DB00420;DB01069;DB01182;DB00818;DB09396;DB00205;DB01589;DB00908;DB00468;DB01129;DB08896;DB01045;DB01201;DB00503;DB00533;DB00412;DB01098;DB01698;DB00936;DB01232;DB00418;DB01037;DB01104;DB00203;DB00641;DB06268;DB00398;DB06820;DB00359;DB06150;DB00576;DB01015;DB08798;DB00259;DB06729;DB00891;DB01138;DB00263;DB00870;DB00675;DB06204;DB01079;DB00231;DB00444;DB00469;DB00857;DB00342;DB00624;DB01041;DB00277;DB01154;DB00679;DB08816;DB00208;DB04831;DB01007;DB01124;DB00323;DB01036;DB00214;DB05109;DB00752;DB00374;DB00755;DB00897;DB00347;DB00440;DB00726;DB00197;DB01361;DB00580;DB00313;DB00177;DB00285;DB00661;DB08828;DB00582;DB09068;DB00682;DB04898;DB00549;DB00943;DB06737;DB00495;DB00744;DB00425;DB01198;

snps:
rs67807361 rs72558189 rs1799853 rs7900194 rs2256871 rs9332130 rs28371685 rs1057909 rs1057910 rs56165452 rs28371686 rs28371687 rs9332239 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P11712-1; Sequence=Displayed; Name=2; IsoId=P11712-2; Sequence=VSP_055573, VSP_055574; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Endoplasmic reticulum membrane; Peripheral membrane protein. Microsome membrane {ECO:0000269|PubMed:21576599}; Peripheral membrane protein.


uniprotID: Q6ZTR6
geneSymbol: C18orf65
name: Putative uncharacterized protein C18orf65
length: 163
sequence:
MRVPPAGTWALRPIWTEMGTPLRGSQAPGRIVLLLLVITPQWRWIPSKTPNVAPRSNQRCNPGGYLSGGVSLCASHSQPAALPNLGRLQKKLLQTRCKGRRMCPKAGDQTGGAFCMCDVSGGGGECVSGSGGGGESGRKTGTTSAMKDPRVLKCKLRVTNDLH


uniprotID: P11844
geneSymbol: CRYGA
pdb: 1LER;
name: Gamma-crystallin A (Gamma-A-crystallin) (Gamma-crystallin 5)
length: 174
go: ENSG00000168582;
sequence:
MGKITFYEDRDFQGRCYNCISDCPNLRVYFSRCNSIRVDSGCWMLYERPNYQGHQYFLRRGKYPDYQHWMGLSDSVQSCRIIPHTSSHKLRLYERDDYRGLMSELTDDCACVPELFRLPEIYSLHVLEGCWVLYEMPNYRGRQYLLRPGDYRRYHDWGGADAKVGSLRRVTDLY

opentargets:
structural constituent of eye lens [GO:0005212]; lens development in camera-type eye [GO:0002088]; visual perception [GO:0007601]


uniprotID: O43739
geneSymbol: CYTH3
reactome: R-HSA-6811438;
pdb: 4KAX;
length: 400
go: ENSG00000008256;
name:
Cytohesin-3 (ARF nucleotide-binding site opener 3) (Protein ARNO3) (General receptor of phosphoinositides 1) (Grp1) (PH, SEC7 and coiled-coil domain-containing protein 3)

sequence:

opentargets:
adherens junction [GO:0005912]; bicellular tight junction [GO:0005923]; cytosol [GO:0005829]; extrinsic component of cytoplasmic side of plasma membrane [GO:0031234]; Golgi membrane [GO:0000139]; nucleoplasm [GO:0005654]; plasma membrane [GO:0005886]; ruffle [GO:0001726]; ARF guanyl-nucleotide exchange factor activity [GO:0005086]; phosphatidylinositol-3,4,5-trisphosphate binding [GO:0005547]; establishment of epithelial cell polarity [GO:0090162]; Golgi vesicle transport [GO:0048193]; positive regulation of cell adhesion [GO:0045785]; regulation of ARF protein signal transduction [GO:0032012]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=O43739-1; Sequence=Displayed; Name=2; IsoId=O43739-2; Sequence=VSP_006039; 

location:
SUBCELLULAR LOCATION: Cytoplasm, cytosol. Cell membrane {ECO:0000250|UniProtKB:O08967}; Peripheral membrane protein {ECO:0000250|UniProtKB:O08967}. Cell junction, adherens junction {ECO:0000250|UniProtKB:O08967}. Cell junction, tight junction {ECO:0000250|UniProtKB:O08967}. Note=Translocates from the cytosol to membranes enriched in phosphatidylinositol 3,4,5-trisphosphate. {ECO:0000250|UniProtKB:O08967}.


uniprotID: Q9UIA0
geneSymbol: CYTH4
reactome: R-HSA-6811438;
name: Cytohesin-4 (PH, SEC7 and coiled-coil domain-containing protein 4)
length: 394
go: ENSG00000100055;
snps: rs16998061
sequence:

opentargets:
cytosol [GO:0005829]; Golgi membrane [GO:0000139]; plasma membrane [GO:0005886]; ARF guanyl-nucleotide exchange factor activity [GO:0005086]; lipid binding [GO:0008289]; regulation of ARF protein signal transduction [GO:0032012]

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:17398095}; Peripheral membrane protein {ECO:0000269|PubMed:17398095}.


uniprotID: Q5VWQ8
geneSymbol: DAB2IP
reactome: R-HSA-5658442;R-HSA-6802949;
length: 1189
go: ENSG00000136848;
snps: rs7027492
name:
Disabled homolog 2-interacting protein (DAB2 interaction protein) (DAB2-interacting protein) (ASK-interacting protein 1) (AIP-1) (DOC-2/DAB-2 interactive protein)

sequence:

opentargets:
AIP1-IRE1 complex [GO:1990597]; axon [GO:0030424]; cerebellar mossy fiber [GO:0044300]; climbing fiber [GO:0044301]; cytoplasm [GO:0005737]; cytosol [GO:0005829]; dendrite [GO:0030425]; endocytic vesicle [GO:0030139]; neuronal cell body [GO:0043025]; neuronal cell body membrane [GO:0032809]; parallel fiber [GO:1990032]; plasma membrane [GO:0005886]; 14-3-3 protein binding [GO:0071889]; cadherin binding [GO:0045296]; death receptor binding [GO:0005123]; GTPase activator activity [GO:0005096]; identical protein binding [GO:0042802]; kinase binding [GO:0019900]; mitogen-activated protein kinase kinase binding [GO:0031434]; mitogen-activated protein kinase kinase kinase binding [GO:0031435]; phosphatidylinositol 3-kinase binding [GO:0043548]; phosphatidylinositol 3-kinase regulatory subunit binding [GO:0036312]; phosphatidylinositol-3-phosphate binding [GO:0032266]; phosphatidylinositol-4-phosphate binding [GO:0070273]; protein homodimerization activity [GO:0042803]; protein kinase binding [GO:0019901]; protein phosphatase 2A binding [GO:0051721]; protein-containing complex binding [GO:0044877]; SH3 domain binding [GO:0017124]; signaling adaptor activity [GO:0035591]; vascular endothelial growth factor receptor 2 binding [GO:0043184]; activation of JUN kinase activity [GO:0007257]; activation of MAPKKK activity [GO:0000185]; angiogenesis [GO:0001525]; cell cycle [GO:0007049]; cell motility involved in cerebral cortex radial glia guided migration [GO:0021814]; cellular protein catabolic process [GO:0044257]; cellular response to epidermal growth factor stimulus [GO:0071364]; cellular response to interleukin-1 [GO:0071347]; cellular response to lipopolysaccharide [GO:0071222]; cellular response to tumor necrosis factor [GO:0071356]; cellular response to unfolded protein [GO:0034620]; cellular response to vascular endothelial growth factor stimulus [GO:0035924]; endothelial cell apoptotic process [GO:0072577]; extrinsic apoptotic signaling pathway via death domain receptors [GO:0008625]; I-kappaB phosphorylation [GO:0007252]; inflammatory response [GO:0006954]; innate immune response [GO:0045087]; intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress [GO:0070059]; layer formation in cerebral cortex [GO:0021819]; MAPK cascade [GO:0000165]; negative regulation of angiogenesis [GO:0016525]; negative regulation of canonical Wnt signaling pathway [GO:0090090]; negative regulation of cell proliferation [GO:0008285]; negative regulation of cellular protein catabolic process [GO:1903363]; negative regulation of endothelial cell migration [GO:0010596]; negative regulation of epidermal growth factor receptor signaling pathway [GO:0042059]; negative regulation of epithelial cell migration [GO:0010633]; negative regulation of epithelial cell proliferation [GO:0050680]; negative regulation of epithelial to mesenchymal transition [GO:0010719]; negative regulation of ERK1 and ERK2 cascade [GO:0070373]; negative regulation of fibroblast proliferation [GO:0048147]; negative regulation of G0 to G1 transition [GO:0070317]; negative regulation of GTPase activity [GO:0034260]; negative regulation of I-kappaB kinase/NF-kappaB signaling [GO:0043124]; negative regulation of MAP kinase activity [GO:0043407]; negative regulation of NF-kappaB transcription factor activity [GO:0032088]; negative regulation of phosphatidylinositol 3-kinase activity [GO:0043553]; negative regulation of phosphatidylinositol 3-kinase signaling [GO:0014067]; negative regulation of protein phosphorylation [GO:0001933]; negative regulation of protein serine/threonine kinase activity [GO:0071901]; negative regulation of Ras protein signal transduction [GO:0046580]; negative regulation of toll-like receptor 4 signaling pathway [GO:0034144]; negative regulation of transcription by RNA polymerase II [GO:0000122]; negative regulation of transcription, DNA-templated [GO:0045892]; negative regulation of vascular endothelial growth factor receptor signaling pathway [GO:0030948]; negative regulation of vascular endothelial growth factor signaling pathway [GO:1900747]; neuron projection morphogenesis [GO:0048812]; positive regulation of apoptotic process [GO:0043065]; positive regulation of apoptotic signaling pathway [GO:2001235]; positive regulation of cell cycle arrest [GO:0071158]; positive regulation of dendrite development [GO:1900006]; positive regulation of IRE1-mediated unfolded protein response [GO:1903896]; positive regulation of JNK cascade [GO:0046330]; positive regulation of JUN kinase activity [GO:0043507]; positive regulation of MAPK cascade [GO:0043410]; positive regulation of neuron migration [GO:2001224]; positive regulation of neuron projection development [GO:0010976]; positive regulation of proteasomal protein catabolic process [GO:1901800]; positive regulation of protein catabolic process [GO:0045732]; positive regulation of protein serine/threonine kinase activity [GO:0071902]; positive regulation of synapse maturation [GO:0090129]; positive regulation of transcription by RNA polymerase II [GO:0045944]; reelin-mediated signaling pathway [GO:0038026]; regulation of growth [GO:0040008]; regulation of GTPase activity [GO:0043087]; regulation of I-kappaB kinase/NF-kappaB signaling [GO:0043122]; regulation of p38MAPK cascade [GO:1900744]; regulation of protein complex assembly [GO:0043254]; regulation of protein heterodimerization activity [GO:0043497]; tube formation [GO:0035148]; vascular endothelial growth factor receptor-2 signaling pathway [GO:0036324]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=5;  Name=1; IsoId=Q5VWQ8-1; Sequence=Displayed; Note=Gene prediction based on EST data.; Name=2; IsoId=Q5VWQ8-2; Sequence=VSP_020953; Name=3; IsoId=Q5VWQ8-3; Sequence=VSP_020952, VSP_020954; Name=4; IsoId=Q5VWQ8-4; Sequence=VSP_020953, VSP_020954; Name=5; IsoId=Q5VWQ8-5; Sequence=VSP_047361, VSP_020954; Note=Gene prediction based on EST data.; 

location:
SUBCELLULAR LOCATION: Cytoplasm. Cell membrane {ECO:0000305}; Peripheral membrane protein {ECO:0000305}. Membrane. Cell projection, dendrite {ECO:0000250}. Note=Localized in soma and dendrites of Purkinje cells as well as in scattered cell bodies in the molecular layer of the cerebellum (By similarity). Colocalizes with TIRAP at the plasma membrane. Colocalizes with ARF6 at the plasma membrane and endocytic vesicles. Translocates from the plasma membrane to the cytoplasm in response to TNF-alpha. Phosphatidylinositol 4-phosphate (PtdIns4P) binding is essential for plasma membrane localization. {ECO:0000250}.


uniprotID: P09104
geneSymbol: ENO2
reactome: R-HSA-70171;R-HSA-70263;
pdb: 1TE6;2AKM;2AKZ;3UCC;3UCD;3UJE;3UJF;3UJR;3UJS;4ZA0;4ZCW;5EU9;5IDZ;5TD9;5TIJ;
length: 434
go: ENSG00000111674;
drug: DB02726;
name:
Gamma-enolase (EC 4.2.1.11) (2-phospho-D-glycerate hydro-lyase) (Enolase 2) (Neural enolase) (Neuron-specific enolase) (NSE)

sequence:

opentargets:
cytosol [GO:0005829]; extracellular exosome [GO:0070062]; extracellular space [GO:0005615]; membrane [GO:0016020]; myelin sheath [GO:0043209]; perikaryon [GO:0043204]; phosphopyruvate hydratase complex [GO:0000015]; photoreceptor inner segment [GO:0001917]; plasma membrane [GO:0005886]; magnesium ion binding [GO:0000287]; phosphopyruvate hydratase activity [GO:0004634]; canonical glycolysis [GO:0061621]; gluconeogenesis [GO:0006094]; glycolytic process [GO:0006096]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P09104-1; Sequence=Displayed; Name=2; IsoId=P09104-2; Sequence=VSP_055482; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250}. Cell membrane {ECO:0000250}. Note=Can translocate to the plasma membrane in either the homodimeric (alpha/alpha) or heterodimeric (alpha/gamma) form. {ECO:0000250}.


uniprotID: A8MPP1
geneSymbol: DDX11L8
length: 907
location: SUBCELLULAR LOCATION: Nucleus, nucleolus {ECO:0000250}.
name:
Putative ATP-dependent RNA helicase DDX11-like protein 8 (EC 3.6.4.13) (DEAD/H box protein 11-like 8)

sequence:

opentargets:
nucleolus [GO:0005730]; nucleus [GO:0005634]; ATP binding [GO:0005524]; ATP-dependent DNA helicase activity [GO:0004003]; DNA binding [GO:0003677]; RNA binding [GO:0003723]; RNA-dependent ATPase activity [GO:0008186]; DNA duplex unwinding [GO:0032508]; establishment of sister chromatid cohesion [GO:0034085]; nucleobase-containing compound metabolic process [GO:0006139]


uniprotID: Q6ZMK1
geneSymbol: CYHR1
name: Cysteine and histidine-rich protein 1
length: 362
go: ENSG00000187954;
sequence:

opentargets:
nucleoplasm [GO:0005654]; perinuclear region of cytoplasm [GO:0048471]; zinc ion binding [GO:0008270]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=Q6ZMK1-1; Sequence=Displayed; Name=2; IsoId=Q6ZMK1-2; Sequence=VSP_032818; Note=No experimental confirmation available.; Name=3; IsoId=Q6ZMK1-3; Sequence=VSP_032819; Name=4; IsoId=Q6ZMK1-4; Sequence=VSP_032818, VSP_032820; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250}. Cytoplasm, perinuclear region {ECO:0000250}. Note=Shows a prominent perinuclear and cytoplasmic localization. {ECO:0000250}.


uniprotID: O76096
geneSymbol: CST7
pdb: 2CH9;
name: Cystatin-F (Cystatin-7) (Cystatin-like metastasis-associated protein) (CMAP) (Leukocystatin)
length: 145
go: ENSG00000077984;
sequence:
MRAAGTLLAFCCLVLSTTGGPSPDTCSQDLNSRVKPGFPKTIKTNDPGVLQAARYSVEKFNNCTNDMFLFKESRITRALVQIVKGLKYMLEVEIGRTTCKKNQHLRLDDCDFQTNHTLKQTLSCYSEVWVVPWLQHFEVPVLRCH

opentargets:
cytoplasm [GO:0005737]; extracellular region [GO:0005576]; cysteine-type endopeptidase inhibitor activity [GO:0004869]; endopeptidase inhibitor activity [GO:0004866]; immune response [GO:0006955]

location:
SUBCELLULAR LOCATION: Secreted {ECO:0000269|PubMed:12423348}. Cytoplasm {ECO:0000269|PubMed:12423348}.


uniprotID: O75553
geneSymbol: DAB1
reactome: R-HSA-8866376;
name: Disabled homolog 1
length: 588
go: ENSG00000173406;
snps: rs1855377
sequence:

opentargets:
apical part of cell [GO:0045177]; brush border [GO:0005903]; cytosol [GO:0005829]; intracellular membrane-bounded organelle [GO:0043231]; membrane [GO:0016020]; neuron projection [GO:0043005]; neuronal cell body [GO:0043025]; perinuclear region of cytoplasm [GO:0048471]; postsynaptic density [GO:0014069]; phosphatidylinositol 3-kinase binding [GO:0043548]; adult walking behavior [GO:0007628]; axon guidance [GO:0007411]; cell-cell adhesion involved in neuronal-glial interactions involved in cerebral cortex radial glia guided migration [GO:0021813]; cerebellum structural organization [GO:0021589]; dendrite development [GO:0016358]; Golgi localization [GO:0051645]; lateral motor column neuron migration [GO:0097477]; midgut development [GO:0007494]; negative regulation of astrocyte differentiation [GO:0048712]; negative regulation of axonogenesis [GO:0050771]; negative regulation of cell adhesion [GO:0007162]; negative regulation of JAK-STAT cascade [GO:0046426]; positive regulation of neuron differentiation [GO:0045666]; positive regulation of protein kinase activity [GO:0045860]; radial glia guided migration of Purkinje cell [GO:0021942]; response to drug [GO:0042493]; small GTPase mediated signal transduction [GO:0007264]; ventral spinal cord development [GO:0021517]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=6;  Name=DAB588; IsoId=O75553-1; Sequence=Displayed; Note=No experimental confirmation available.; Name=DAB213; IsoId=O75553-2; Sequence=VSP_026168, VSP_026169; Note=No experimental confirmation available.; Name=DAB469; IsoId=O75553-3; Sequence=VSP_026166; Note=No experimental confirmation available.; Name=DAB537; IsoId=O75553-4; Sequence=VSP_026167, VSP_026171; Note=No experimental confirmation available.; Name=DAB553; IsoId=O75553-5; Sequence=VSP_026167; Note=No experimental confirmation available.; Name=DAB555; IsoId=O75553-6; Sequence=VSP_026170; 


uniprotID: Q717R9
geneSymbol: CYS1
reactome: R-HSA-5624138;
name: Cystin-1 (Cilia-associated protein)
length: 158
go: ENSG00000205795;
opentargets: ciliary membrane [GO:0060170]; cilium [GO:0005929]; cytoskeleton [GO:0005856]; cytosol [GO:0005829]
sequence:
MGSGSSRSSRTLRRRRSPESLPAGPGAAALEGGTRRRVPVAAAEVPGAAAEEAPGRDPSPVAPPDGRDETLRLLDELLAESAAWGPPEPAPRRPARLRPTAVAGSAVCAEQSTEGHPGSGNVSEAPGSGRKKPERPAAISYDHSEEGLMASIEREYCR

location:
SUBCELLULAR LOCATION: Cell projection, cilium membrane {ECO:0000269|PubMed:22085962}; Lipid-anchor {ECO:0000269|PubMed:22085962}. Cytoplasm, cytoskeleton, cilium axoneme {ECO:0000269|PubMed:22085962}. Note=Expression is enriched in the ciliary axoneme. Localization to cilium is mediated via interaction with UNC119 and UNC119B, which bind to the myristoyl moiety of the N-terminus.


uniprotID: Q5SW24
geneSymbol: DACT2
name: Dapper homolog 2 (Dapper antagonist of catenin 2)
length: 774
go: ENSG00000164488;
snps: rs6925614 rs10945501
sequence:

opentargets:
cytoplasm [GO:0005737]; beta-catenin binding [GO:0008013]; delta-catenin binding [GO:0070097]; protein kinase A binding [GO:0051018]; protein kinase C binding [GO:0005080]; transcription factor binding [GO:0008134]; epithelial cell morphogenesis [GO:0003382]; inner medullary collecting duct development [GO:0072061]; negative regulation of cell adhesion [GO:0007162]; negative regulation of nodal signaling pathway [GO:1900108]; regulation of Wnt signaling pathway [GO:0030111]; skin development [GO:0043588]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=Q5SW24-1; Sequence=Displayed; Name=2; IsoId=Q5SW24-2; Sequence=VSP_032596; Note=No experimental confirmation available.; Name=3; IsoId=Q5SW24-3; Sequence=VSP_032595; Note=No experimental confirmation available.; Name=4; IsoId=Q5SW24-4; Sequence=VSP_032597, VSP_032598; Note=No experimental confirmation available.; 


uniprotID: Q8WWM9
geneSymbol: CYGB
reactome: R-HSA-203615;R-HSA-8981607;
pdb: 1UMO;1URV;1URY;1UT0;1UX9;1V5H;2DC3;3AG0;4B3W;
name: Cytoglobin (Histoglobin) (HGb) (Stellate cell activation-associated protein)
length: 190
go: ENSG00000161544;
location: SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250}.
sequence:
MEKVPGEMEIERRERSEELSEAERKAVQAMWARLYANCEDVGVAILVRFFVNFPSAKQYFSQFKHMEDPLEMERSPQLRKHACRVMGALNTVVENLHDPDKVSSVLALVGKAHALKHKVEPVYFKILSGVILEVVAEEFASDFPPETQRAWAKLRGLIYSHVTAAYKEVGWVQQVPNATTPPATLPSSGP

opentargets:
cytosol [GO:0005829]; neuron projection [GO:0043005]; neuronal cell body [GO:0043025]; nuclear speck [GO:0016607]; catalase activity [GO:0004096]; fatty acid peroxidase activity [GO:0047888]; heme binding [GO:0020037]; iron ion binding [GO:0005506]; nitric oxide dioxygenase activity [GO:0008941]; oxygen binding [GO:0019825]; oxygen carrier activity [GO:0005344]; peroxidase activity [GO:0004601]; fatty acid oxidation [GO:0019395]; negative regulation of collagen biosynthetic process [GO:0032966]; negative regulation of fibroblast migration [GO:0010764]; negative regulation of hepatic stellate cell activation [GO:2000490]; oxygen transport [GO:0015671]; regulation of nitric-oxide synthase activity [GO:0050999]; response to hypoxia [GO:0001666]; response to oxidative stress [GO:0006979]


uniprotID: Q5M775
geneSymbol: SPECC1
length: 1068
go: ENSG00000128487;
snps: rs9908032 rs2703806 rs35835131
name:
Cytospin-B (Nuclear structure protein 5) (NSP5) (Sperm antigen HCMOGT-1) (Sperm antigen with calponin homology and coiled-coil domains 1)

sequence:

opentargets:
filamentous actin [GO:0031941]; membrane [GO:0016020]; microtubule organizing center [GO:0005815]; nucleus [GO:0005634]; actin cytoskeleton organization [GO:0030036]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=5;  Name=1; Synonyms=NSP5beta3beta; IsoId=Q5M775-1; Sequence=Displayed; Name=2; Synonyms=NSP5beta3alpha; IsoId=Q5M775-2; Sequence=VSP_021164, VSP_021165; Name=3; Synonyms=NSP5alpha3alpha; IsoId=Q5M775-3; Sequence=VSP_021162, VSP_021164, VSP_021165; Name=4; Synonyms=NSP5alpha3beta; IsoId=Q5M775-4; Sequence=VSP_021162; Name=5; IsoId=Q5M775-5; Sequence=VSP_021162, VSP_021163; 

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:15602574}.; SUBCELLULAR LOCATION: Isoform 3: Membrane {ECO:0000305}; Lipid-anchor {ECO:0000305}.; SUBCELLULAR LOCATION: Isoform 4: Membrane {ECO:0000305}; Lipid-anchor {ECO:0000305}.; SUBCELLULAR LOCATION: Isoform 5: Membrane {ECO:0000305}; Lipid-anchor {ECO:0000305}.


uniprotID: P59861
geneSymbol: DEFB131A
reactome: R-HSA-1461957;R-HSA-1461973;
name: Beta-defensin 131A (Beta-defensin 31) (DEFB-31) (Defensin, beta 131)
sequence: MRVLFFVFGVLSLMFTVPPARSFISNDECPSEYYHCRLKCNADEHAIRYCADFSICCKLKIIEIDGQKKW
length: 70
go: ENSG00000186146;
location: SUBCELLULAR LOCATION: Secreted {ECO:0000305}.
opentargets:
extracellular space [GO:0005615]; antimicrobial humoral immune response mediated by antimicrobial peptide [GO:0061844]; cellular response to lipoteichoic acid [GO:0071223]; defense response to bacterium [GO:0042742]; innate immune response [GO:0045087]; positive regulation of chemokine production [GO:0032722]; positive regulation of cytokine secretion involved in immune response [GO:0002741]; positive regulation of monocyte chemotaxis [GO:0090026]


uniprotID: Q8TEY5
geneSymbol: CREB3L4
reactome: R-HSA-8874211;
length: 395
go: ENSG00000143578;
snps: rs11264743
name:
Cyclic AMP-responsive element-binding protein 3-like protein 4 (cAMP-responsive element-binding protein 3-like protein 4) (Androgen-induced basic leucine zipper protein) (AIbZIP) (Attaching to CRE-like 1) (ATCE1) (Cyclic AMP-responsive element-binding protein 4) (CREB-4) (cAMP-responsive element-binding protein 4) (Transcript induced in spermiogenesis protein 40) (Tisp40) (hJAL) [Cleaved into: Processed cyclic AMP-responsive element-binding protein 3-like protein 4]

sequence:

opentargets:
endoplasmic reticulum [GO:0005783]; endoplasmic reticulum membrane [GO:0005789]; Golgi apparatus [GO:0005794]; Golgi membrane [GO:0000139]; integral component of membrane [GO:0016021]; mitochondrion [GO:0005739]; nuclear membrane [GO:0031965]; nucleoplasm [GO:0005654]; cAMP response element binding [GO:0035497]; DNA-binding transcription activator activity, RNA polymerase II-specific [GO:0001228]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; endoplasmic reticulum unfolded protein response [GO:0030968]; positive regulation of transcription by RNA polymerase II [GO:0045944]; spermatogenesis [GO:0007283]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q8TEY5-1; Sequence=Displayed; Name=2; IsoId=Q8TEY5-2; Sequence=VSP_045426; 

location:
SUBCELLULAR LOCATION: Endoplasmic reticulum membrane; Single-pass type II membrane protein. Golgi apparatus membrane {ECO:0000305}; Single-pass type II membrane protein {ECO:0000305}. Note=May also be located in Golgi apparatus.; SUBCELLULAR LOCATION: Processed cyclic AMP-responsive element-binding protein 3-like protein 4: Nucleus. Note=Under ER stress the cleaved N-terminal cytoplasmic domain translocates into the nucleus. {ECO:0000250}.


uniprotID: P81534
geneSymbol: DEFB103A; DEFB103B
reactome: R-HSA-1461957;R-HSA-1461973;
pdb: 1KJ6;
sequence: MRIHYLLFALLFLFLVPVPGHGGIINTLQKYYCRVRGGRCAVLSCLPKEEQIGKCSTRGRKCCRRKK
length: 67
go: ENSG00000176797;
location: SUBCELLULAR LOCATION: Secreted.
name:
Beta-defensin 103 (Beta-defensin 3) (BD-3) (DEFB-3) (HBD3) (hBD-3) (Defensin, beta 103) (Defensin-like protein)

opentargets:
extracellular region [GO:0005576]; extracellular space [GO:0005615]; Golgi lumen [GO:0005796]; CCR6 chemokine receptor binding [GO:0031731]; chemoattractant activity [GO:0042056]; antimicrobial humoral immune response mediated by antimicrobial peptide [GO:0061844]; antimicrobial humoral response [GO:0019730]; cell chemotaxis [GO:0060326]; chemotaxis [GO:0006935]; defense response to bacterium [GO:0042742]; defense response to Gram-negative bacterium [GO:0050829]; defense response to Gram-positive bacterium [GO:0050830]; killing of cells of other organism [GO:0031640]


uniprotID: Q8N1P7
geneSymbol: CRYBG2
name: Beta/gamma crystallin domain-containing protein 2 (Absent in melanoma 1-like protein)
length: 616
opentargets: carbohydrate binding [GO:0030246]
snps: rs10751735
sequence:


uniprotID: P01909
geneSymbol: HLA-DQA1
reactome: R-HSA-202424;R-HSA-202427;R-HSA-202430;R-HSA-202433;R-HSA-2132295;R-HSA-389948;R-HSA-877300;
pdb: 1JK8;1NBN;1S9V;1UVQ;2NNA;4GG6;4OZF;4OZG;4OZH;4OZI;5KSA;5KSB;5KSU;5KSV;
length: 254
name:
HLA class II histocompatibility antigen, DQ alpha 1 chain (DC-1 alpha chain) (DC-alpha) (HLA-DCA) (MHC class II DQA1)

sequence:

opentargets:
clathrin-coated endocytic vesicle membrane [GO:0030669]; endocytic vesicle membrane [GO:0030666]; endosome membrane [GO:0010008]; ER to Golgi transport vesicle membrane [GO:0012507]; Golgi membrane [GO:0000139]; integral component of lumenal side of endoplasmic reticulum membrane [GO:0071556]; integral component of plasma membrane [GO:0005887]; lysosomal membrane [GO:0005765]; membrane [GO:0016020]; MHC class II protein complex [GO:0042613]; plasma membrane [GO:0005886]; trans-Golgi network membrane [GO:0032588]; transport vesicle membrane [GO:0030658]; MHC class II receptor activity [GO:0032395]; peptide antigen binding [GO:0042605]; antigen processing and presentation of exogenous peptide antigen via MHC class II [GO:0019886]; immune response [GO:0006955]; interferon-gamma-mediated signaling pathway [GO:0060333]; T cell receptor signaling pathway [GO:0050852]

snps:
rs1047989 rs1047992 rs12722039 rs11545686 rs41545012 rs12722042 rs1129740 rs1071630 rs41549715 rs12722051 rs1048023 rs10093 rs1142323 rs36219699 rs41543221 rs1142324 rs1142326 rs3207983 rs1142328 rs760671632 rs3208105 rs12722061 rs9272698 rs9272699 rs1048052 rs12722069 rs3188043 rs4193 rs41541412 rs1142333 rs1142334 rs9279910 rs1064944 rs1064944 rs41542116 rs1129808 rs41555012 rs707952 rs707950 rs41547417 rs41545514 rs41544114 rs41552014 rs41550317 rs707949 rs7990 rs41561312 rs707963 rs707962 rs2308891 rs2308891 rs9272785 rs35087390 rs9260 rs41545416 rs1048430 rs1048439 


uniprotID: P42830
geneSymbol: CXCL5
reactome: R-HSA-380108;R-HSA-418594;
pdb: 2MGS;
length: 114
go: ENSG00000163735;
location: SUBCELLULAR LOCATION: Secreted.
name:
C-X-C motif chemokine 5 (ENA-78(1-78)) (Epithelial-derived neutrophil-activating protein 78) (Neutrophil-activating peptide ENA-78) (Small-inducible cytokine B5) [Cleaved into: ENA-78(8-78); ENA-78(9-78)]

sequence:
MSLLSSRAARVPGPSSSLCALLVLLLLLTQPGPIASAGPAAAVLRELRCVCLQTTQGVHPKMISNLQVFAIGPQCSKVEVVASLKNGKEICLDPEAPFLKKVIQKILDGGNKEN

opentargets:
extracellular region [GO:0005576]; extracellular space [GO:0005615]; chemokine activity [GO:0008009]; identical protein binding [GO:0042802]; antimicrobial humoral immune response mediated by antimicrobial peptide [GO:0061844]; cell-cell signaling [GO:0007267]; cellular response to lipopolysaccharide [GO:0071222]; chemokine-mediated signaling pathway [GO:0070098]; chemotaxis [GO:0006935]; G protein-coupled receptor signaling pathway [GO:0007186]; immune response [GO:0006955]; inflammatory response [GO:0006954]; leukocyte chemotaxis [GO:0030595]; neutrophil chemotaxis [GO:0030593]; positive regulation of cell proliferation [GO:0008284]; signal transduction [GO:0007165]


uniprotID: Q8N9W5
geneSymbol: DNAAF3
name: Dynein assembly factor 3, axonemal
length: 541
go: ENSG00000167646;
snps: rs2365725 rs7508641 rs890872
location: SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250}.
sequence:

opentargets:
cytoplasm [GO:0005737]; axonemal dynein complex assembly [GO:0070286]; motile cilium assembly [GO:0044458]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=5;  Name=1; IsoId=Q8N9W5-1; Sequence=Displayed; Name=2; IsoId=Q8N9W5-5; Sequence=VSP_039967, VSP_039968; Note=May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.; Name=3; IsoId=Q8N9W5-3; Sequence=VSP_042976, VSP_039966, VSP_039969; Note=No experimental confirmation available.; Name=4; IsoId=Q8N9W5-6; Sequence=VSP_042976; Name=5; IsoId=Q8N9W5-7; Sequence=VSP_055742; 


uniprotID: Q9UBL6
geneSymbol: CPNE7
reactome: R-HSA-1483206;
name: Copine-7 (Copine VII)
length: 633
go: ENSG00000178773;
snps: rs455527 rs28568523 rs35731090 rs3751682
sequence:

opentargets:
cytoplasm [GO:0005737]; extracellular exosome [GO:0070062]; nucleus [GO:0005634]; plasma membrane [GO:0005886]; calcium-dependent phospholipid binding [GO:0005544]; transporter activity [GO:0005215]; cellular response to calcium ion [GO:0071277]; glycerophospholipid biosynthetic process [GO:0046474]; lipid metabolic process [GO:0006629]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9UBL6-1; Sequence=Displayed; Name=2; IsoId=Q9UBL6-2; Sequence=VSP_001215; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:21087455}. Nucleus {ECO:0000269|PubMed:21087455}. Cell membrane {ECO:0000269|PubMed:21087455}. Note=Translocates to the cell membrane in a calcium-dependent manner (PubMed:21087455). {ECO:0000269|PubMed:21087455}.


uniprotID: Q8N1L4
geneSymbol: CYP4Z2P
name: Putative inactive cytochrome P450 family member 4Z2
length: 340
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Single-pass type II membrane protein {ECO:0000305}.
sequence:

opentargets:
integral component of membrane [GO:0016021]; heme binding [GO:0020037]; iron ion binding [GO:0005506]; oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen [GO:0016705]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q8N1L4-1; Sequence=Displayed; Name=2; IsoId=Q8N1L4-2; Sequence=VSP_033072; 


uniprotID: Q96N68
geneSymbol: C18orf15
name: Putative uncharacterized protein C18orf15
length: 181
opentargets: integral component of membrane [GO:0016021]
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Single-pass membrane protein {ECO:0000305}.
sequence:
MQGQGALKESHIHLPTEQPEASLVLQGQLAESSALGPKGALRPQAQSPDVPVSWWQGSGKRLSHRLPHICSQPPLGPFLPLTWPSCGFFGLGGAASASLGLEVLQDSVSTWARGPCCPVHPQSLTVVCMCACMCVCVHVCACVYVCMCVLVCMCACACMRAHRYFLMDCAGICSPHGPGTQ


uniprotID: Q7Z4B0
geneSymbol: LINC00305
name: Putative uncharacterized protein encoded by LINC00305
length: 112
opentargets: extracellular region [GO:0005576]
location: SUBCELLULAR LOCATION: Secreted {ECO:0000305}.
sequence:
MINLHRLCIIHVVATLLSTLLSLISVAISATCKDEKGKQEMETGQQPSGLSATLTKVKCAKRQKTVVRVRFYMLSMKNKACRKNLSKGYNQRPEGSKEESHMVVKEKRKGDH

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q7Z4B0-1; Sequence=Displayed; Note=No experimental confirmation available.; Name=2; IsoId=Q7Z4B0-2; Sequence=VSP_014651; Note=No experimental confirmation available.; 


uniprotID: P10632
geneSymbol: CYP2C8
reactome: R-HSA-211981;R-HSA-211999;R-HSA-2142670;R-HSA-2142816;R-HSA-9027307;
pdb: 1PQ2;2NNH;2NNI;2NNJ;2VN0;
length: 490
go: ENSG00000138115;
name:
Cytochrome P450 2C8 (EC 1.14.14.1) (CYPIIC8) (Cytochrome P450 IIC2) (Cytochrome P450 MP-12) (Cytochrome P450 MP-20) (Cytochrome P450 form 1) (S-mephenytoin 4-hydroxylase)

sequence:

opentargets:
cytoplasm [GO:0005737]; endoplasmic reticulum membrane [GO:0005789]; intracellular membrane-bounded organelle [GO:0043231]; organelle membrane [GO:0031090]; arachidonic acid epoxygenase activity [GO:0008392]; aromatase activity [GO:0070330]; caffeine oxidase activity [GO:0034875]; estrogen 16-alpha-hydroxylase activity [GO:0101020]; heme binding [GO:0020037]; iron ion binding [GO:0005506]; monooxygenase activity [GO:0004497]; oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen [GO:0016712]; steroid hydroxylase activity [GO:0008395]; drug metabolic process [GO:0017144]; epoxygenase P450 pathway [GO:0019373]; exogenous drug catabolic process [GO:0042738]; lipid hydroxylation [GO:0002933]; long-chain fatty acid biosynthetic process [GO:0042759]; omega-hydroxylase P450 pathway [GO:0097267]; organic acid metabolic process [GO:0006082]; oxidation-reduction process [GO:0055114]; oxidative demethylation [GO:0070989]; steroid metabolic process [GO:0008202]; xenobiotic metabolic process [GO:0006805]

drug:
DB05812;DB00316;DB00945;DB00918;DB01424;DB01118;DB00321;DB00381;DB00613;DB00701;DB01435;DB06605;DB01076;DB00972;DB06770;DB05229;DB01393;DB00835;DB00921;DB01156;DB06772;DB00201;DB00796;DB00564;DB00748;DB00482;DB00439;DB00446;DB00608;DB00169;DB00501;DB00604;DB00758;DB00257;DB00363;DB00907;DB01394;DB05219;DB00531;DB00091;DB08912;DB00250;DB09183;DB00705;DB01234;DB00514;DB00647;DB00829;DB00586;DB00255;DB00343;DB01184;DB00625;DB06210;DB08899;DB00530;DB00783;DB00402;DB00977;DB00773;DB01023;DB01039;DB00544;DB01095;DB01320;DB01241;DB01218;DB00741;DB01050;DB09054;DB01181;DB01029;DB00951;DB09570;DB01221;DB06738;DB01026;DB01009;DB00448;DB01259;DB08918;DB00451;DB04725;DB00281;DB01583;DB00836;DB01601;DB00455;DB00678;DB00227;DB09280;DB00603;DB00784;DB00814;DB00532;DB00333;DB00916;DB00370;DB00764;DB00471;DB00295;DB00688;DB01183;DB00788;DB00622;DB00184;DB01115;DB04868;DB00665;DB06712;DB09080;DB09296;DB00338;DB01062;DB01229;DB03796;DB00617;DB00715;DB06589;DB00738;DB00850;DB00780;DB01174;DB00946;DB00252;DB01132;DB00554;DB08860;DB08901;DB00175;DB00794;DB01032;DB00396;DB01182;DB00818;DB09396;DB00205;DB04216;DB00908;DB00468;DB01129;DB00481;DB08896;DB00912;DB01045;DB01201;DB08931;DB00503;DB00533;DB00412;DB01698;DB00938;DB01232;DB00418;DB01037;DB11362;DB00641;DB01261;DB00398;DB00421;DB09118;DB00359;DB01015;DB06729;DB01138;DB00675;DB00799;DB01079;DB00231;DB00857;DB00342;DB08880;DB00624;DB00277;DB00679;DB00208;DB01007;DB01124;DB00214;DB08911;DB00755;DB00897;DB00347;DB00440;DB00197;DB01361;DB00313;DB00661;DB08828;DB09068;DB00682;DB00549;DB00495;DB01198;

snps:
rs11572080 rs142886225 rs72558195 rs188934928 rs11572102 rs769460274 rs1058930 rs11572103 rs72558194 rs10509681 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P10632-1; Sequence=Displayed; Name=2; IsoId=P10632-2; Sequence=VSP_043306, VSP_043307; Note=No experimental confirmation available.; 


uniprotID: P17927
geneSymbol: CR1
reactome: R-HSA-6798695;R-HSA-8877330;R-HSA-977606;
pdb: 1GKG;1GKN;1GOP;1PPQ;2MCY;2MCZ;2Q7Z;5FO9;
name: Complement receptor type 1 (C3b/C4b receptor) (CD antigen CD35)
length: 2039
snps: rs2274567 rs3737002 rs17259045 rs17047660 rs17047661 rs4844609 rs6691117 rs3811381 rs2296160
location: SUBCELLULAR LOCATION: Membrane; Single-pass type I membrane protein.
sequence:

opentargets:
cell surface [GO:0009986]; extracellular exosome [GO:0070062]; ficolin-1-rich granule membrane [GO:0101003]; integral component of plasma membrane [GO:0005887]; plasma membrane [GO:0005886]; secretory granule membrane [GO:0030667]; complement component C3b binding [GO:0001851]; complement component C3b receptor activity [GO:0004877]; complement component C4b binding [GO:0001855]; complement component C4b receptor activity [GO:0001861]; virus receptor activity [GO:0001618]; complement activation, classical pathway [GO:0006958]; innate immune response [GO:0045087]; negative regulation of complement activation, alternative pathway [GO:0045957]; negative regulation of complement activation, classical pathway [GO:0045959]; negative regulation of serine-type endopeptidase activity [GO:1900004]; neutrophil degranulation [GO:0043312]; positive regulation of serine-type endopeptidase activity [GO:1900005]; regulation of complement activation [GO:0030449]; regulation of regulatory T cell differentiation [GO:0045589]


uniprotID: Q9BPU6
geneSymbol: DPYSL5
reactome: R-HSA-399956;
pdb: 4B90;4B91;4B92;
length: 564
go: ENSG00000157851;
location: SUBCELLULAR LOCATION: Cytoplasm {ECO:0000305}.
name:
Dihydropyrimidinase-related protein 5 (DRP-5) (CRMP3-associated molecule) (CRAM) (Collapsin response mediator protein 5) (CRMP-5) (UNC33-like phosphoprotein 6) (ULIP-6)

sequence:

opentargets:
cytosol [GO:0005829]; dendrite [GO:0030425]; neuronal cell body [GO:0043025]; hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds [GO:0016810]; microtubule binding [GO:0008017]; axon guidance [GO:0007411]; nervous system development [GO:0007399]; signal transduction [GO:0007165]


uniprotID: P07315
geneSymbol: CRYGC
pdb: 1LFE;2NBR;
name: Gamma-crystallin C (Gamma-C-crystallin) (Gamma-crystallin 2-1) (Gamma-crystallin 3)
length: 174
go: ENSG00000163254;
snps: rs104893618 rs2242072 rs61751949 rs137853924 rs28931604
sequence:
MGKITFYEDRAFQGRSYETTTDCPNLQPYFSRCNSIRVESGCWMLYERPNYQGQQYLLRRGEYPDYQQWMGLSDSIRSCCLIPQTVSHRLRLYEREDHKGLMMELSEDCPSIQDRFHLSEIRSLHVLEGCWVLYELPNYRGRQYLLRPQEYRRCQDWGAMDAKAGSLRRVVDLY

opentargets:
cytoplasm [GO:0005737]; nucleus [GO:0005634]; structural constituent of eye lens [GO:0005212]; visual perception [GO:0007601]


uniprotID: Q9UJA2
geneSymbol: CRLS1
reactome: R-HSA-1482925;R-HSA-1483076;
name: Cardiolipin synthase (CMP-forming) (CLS) (EC 2.7.8.41) (Protein GCD10 homolog)
length: 301
go: ENSG00000088766;
sequence:

opentargets:
integral component of membrane [GO:0016021]; mitochondrial inner membrane [GO:0005743]; mitochondrion [GO:0005739]; 1-acylglycerol-3-phosphate O-acyltransferase activity [GO:0003841]; 2-acylglycerol-3-phosphate O-acyltransferase activity [GO:0047144]; cardiolipin synthase activity [GO:0008808]; CDP-diacylglycerol-phosphatidylglycerol phosphatidyltransferase activity [GO:0043337]; cardiolipin biosynthetic process [GO:0032049]; glycerophospholipid biosynthetic process [GO:0046474]; phosphatidylglycerol acyl-chain remodeling [GO:0036148]; response to phosphatidylethanolamine [GO:1905711]; response to thyroxine [GO:0097068]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9UJA2-1; Sequence=Displayed; Name=2; IsoId=Q9UJA2-2; Sequence=VSP_041398, VSP_041399; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Mitochondrion inner membrane {ECO:0000269|PubMed:16547353}; Multi-pass membrane protein {ECO:0000269|PubMed:16547353}.


uniprotID: Q86Y56
geneSymbol: DNAAF5
name: Dynein assembly factor 5, axonemal (HEAT repeat-containing protein 2)
length: 855
go: ENSG00000164818;
snps: rs73258248 rs4720951 rs3922641 rs397514561
sequence:

opentargets:
cytoplasm [GO:0005737]; dynein intermediate chain binding [GO:0045505]; cilium movement [GO:0003341]; inner dynein arm assembly [GO:0036159]; outer dynein arm assembly [GO:0036158]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q86Y56-1; Sequence=Displayed; Name=2; IsoId=Q86Y56-2; Sequence=VSP_016110; Note=No experimental confirmation available.; Name=3; IsoId=Q86Y56-3; Sequence=VSP_016109; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:23040496, ECO:0000269|PubMed:25232951}. Cytoplasmic granule {ECO:0000269|PubMed:23040496, ECO:0000269|PubMed:25232951}. Note=Observed only in the cytoplasm of ciliated cells and absent from cilia. {ECO:0000269|PubMed:23040496, ECO:0000269|PubMed:25232951}.


uniprotID: Q9NRG7
geneSymbol: SDR39U1
pdb: 4B4O;
length: 319
go: ENSG00000100445;
opentargets: nucleus [GO:0005634]; oxidoreductase activity [GO:0016491]
snps: rs11625819 rs11538256 rs3211056 rs1043831
name:
Epimerase family protein SDR39U1 (EC 1.1.1.-) (Short-chain dehydrogenase/reductase family 39U member 1)

sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q9NRG7-1; Sequence=Displayed; Name=2; IsoId=Q9NRG7-2; Sequence=VSP_023502; Name=3; IsoId=Q9NRG7-3; Sequence=VSP_023501, VSP_023503; Note=No experimental confirmation available.; 


uniprotID: Q8N104
geneSymbol: DEFB106A; DEFB106B
reactome: R-HSA-1461957;R-HSA-1461973;
pdb: 2LWL;
name: Beta-defensin 106 (Beta-defensin 6) (BD-6) (DEFB-6) (Defensin, beta 106)
sequence: MRTFLFLFAVLFFLTPAKNAFFDEKCNKLKGTCKNNCGKNEELIALCQKSLKCCRTIQPCGSIID
length: 65
go: ENSG00000187082;
opentargets:
extrinsic component of membrane [GO:0019898]; microvesicle [GO:1990742]; nucleus [GO:0005634]; CCR2 chemokine receptor binding [GO:0031727]; heparin binding [GO:0008201]; lipopolysaccharide binding [GO:0001530]; antifungal innate immune response [GO:0061760]; defense response to Gram-negative bacterium [GO:0050829]; defense response to Gram-positive bacterium [GO:0050830]; innate immune response [GO:0045087]

location:
SUBCELLULAR LOCATION: Secreted {ECO:0000305}. Membrane {ECO:0000269|PubMed:23938203}. Note=Associates with tumor cell membrane-derived microvesicles (PubMed:23938203). {ECO:0000269|PubMed:23938203}.


uniprotID: Q9BWK5
geneSymbol: CYREN
length: 157
go: ENSG00000122783;
snps: rs776124276
name:
Cell cycle regulator of non-homologous end joining (Cell cycle regulator of NHEJ) (Modulator of retrovirus infection homolog)

sequence:
METLQSETKTRVLPSWLTAQVATKNVAPMKAPKRMRMAAVPVAAARLPATRTVYCMNEAEIVDVALGILIESRKQEKACEQPALAGADNPEHSPPCSVSPHTSSGSSSEEEDSGKQALAPGLSPSQRPGGSSSACSRSPEEEEEEDVLKYVREIFFS

opentargets:
cytoplasm [GO:0005737]; nucleus [GO:0005634]; double-strand break repair via nonhomologous end joining [GO:0006303]; negative regulation of double-strand break repair via nonhomologous end joining [GO:2001033]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; Synonyms=CYREN-1 {ECO:0000303|PubMed:28959974}, MRI-1 {ECO:0000303|PubMed:24610814}; IsoId=Q9BWK5-1; Sequence=Displayed; Name=2; IsoId=Q9BWK5-2; Sequence=VSP_031768; Note=No experimental confirmation available.; Name=3; Synonyms=CYREN-3 {ECO:0000303|PubMed:28959974}, MRI-3 {ECO:0000303|PubMed:24610814}; IsoId=Q9BWK5-3; Sequence=VSP_031767; Name=4; Synonyms=CYREN-2 {ECO:0000303|PubMed:28959974}, MRI-2 {ECO:0000303|PubMed:24610814}; IsoId=Q9BWK5-4; Sequence=VSP_058524, VSP_058525; 

location:
SUBCELLULAR LOCATION: Isoform 1: Cytoplasm {ECO:0000269|PubMed:24610814}. Nucleus {ECO:0000269|PubMed:24610814}. Note=Nuclear localization may depend upon interaction with XRCC5/Ku80 and XRCC6/Ku70 heterodimer. {ECO:0000269|PubMed:24610814}.; SUBCELLULAR LOCATION: Isoform 3: Cytoplasm {ECO:0000269|PubMed:24610814}. Note=Some nuclear localization may be due to passive diffusion. {ECO:0000269|PubMed:24610814}.; SUBCELLULAR LOCATION: Isoform 4: Cytoplasm {ECO:0000269|PubMed:24610814}. Nucleus {ECO:0000269|PubMed:24610814}. Note=Nuclear localization may depend upon interaction with XRCC5/Ku80 and XRCC6/Ku70 heterodimer and increases upon etoposide treatment. {ECO:0000269|PubMed:24610814}.


uniprotID: Q96B18
geneSymbol: DACT3
length: 629
go: ENSG00000197380;
name:
Dapper homolog 3 (Antagonist of beta-catenin Dapper homolog 3) (Arginine-rich region 1 protein) (Dapper antagonist of catenin 3)

sequence:

opentargets:
cytoplasm [GO:0005737]; beta-catenin binding [GO:0008013]; delta-catenin binding [GO:0070097]; identical protein binding [GO:0042802]; protein kinase A binding [GO:0051018]; protein kinase C binding [GO:0005080]; negative regulation of canonical Wnt signaling pathway [GO:0090090]; negative regulation of cell growth [GO:0030308]; negative regulation of epithelial to mesenchymal transition [GO:0010719]; negative regulation of Wnt signaling pathway [GO:0030178]; regulation of Wnt signaling pathway [GO:0030111]; Wnt signaling pathway [GO:0016055]


uniprotID: P28325
geneSymbol: CST5
pdb: 1RN7;1ROA;
name: Cystatin-D (Cystatin-5)
length: 142
go: ENSG00000170367;
snps: rs1799841
location: SUBCELLULAR LOCATION: Secreted {ECO:0000269|PubMed:20189825}.
sequence:
MMWPMHTPLLLLTALMVAVAGSASAQSRTLAGGIHATDLNDKSVQCALDFAISEYNKVINKDEYYSRPLQVMAAYQQIVGGVNYYFNVKFGRTTCTKSQPNLDNCPFNDQPKLKEEEFCSFQINEVPWEDKISILNYKCRKV

opentargets:
extracellular exosome [GO:0070062]; extracellular region [GO:0005576]; extracellular space [GO:0005615]; cysteine-type endopeptidase inhibitor activity [GO:0004869]


uniprotID: Q9NQC7
geneSymbol: CYLD
reactome: R-HSA-168638;R-HSA-5357786;R-HSA-5357905;R-HSA-5357956;R-HSA-5689880;R-HSA-936440;
pdb: 1IXD;1WHL;1WHM;2VHF;
length: 956
go: ENSG00000083799;
snps: rs121908389
name:
Ubiquitin carboxyl-terminal hydrolase CYLD (EC 3.4.19.12) (Deubiquitinating enzyme CYLD) (Ubiquitin thioesterase CYLD) (Ubiquitin-specific-processing protease CYLD)

sequence:

opentargets:
centrosome [GO:0005813]; ciliary basal body [GO:0036064]; ciliary tip [GO:0097542]; cytosol [GO:0005829]; extrinsic component of cytoplasmic side of plasma membrane [GO:0031234]; microtubule [GO:0005874]; perinuclear region of cytoplasm [GO:0048471]; spindle [GO:0005819]; Lys48-specific deubiquitinase activity [GO:1990380]; Lys63-specific deubiquitinase activity [GO:0061578]; proline-rich region binding [GO:0070064]; protein kinase binding [GO:0019901]; thiol-dependent ubiquitin-specific protease activity [GO:0004843]; thiol-dependent ubiquitinyl hydrolase activity [GO:0036459]; zinc ion binding [GO:0008270]; CD4-positive or CD8-positive, alpha-beta T cell lineage commitment [GO:0043369]; cell cycle [GO:0007049]; homeostasis of number of cells [GO:0048872]; innate immune response [GO:0045087]; necroptotic process [GO:0070266]; negative regulation of canonical Wnt signaling pathway [GO:0090090]; negative regulation of JNK cascade [GO:0046329]; negative regulation of NF-kappaB transcription factor activity [GO:0032088]; negative regulation of NIK/NF-kappaB signaling [GO:1901223]; negative regulation of p38MAPK cascade [GO:1903753]; negative regulation of type I interferon production [GO:0032480]; nucleotide-binding oligomerization domain containing signaling pathway [GO:0070423]; positive regulation of cellular protein localization [GO:1903829]; positive regulation of extrinsic apoptotic signaling pathway [GO:2001238]; positive regulation of T cell differentiation [GO:0045582]; positive regulation of T cell receptor signaling pathway [GO:0050862]; protein deubiquitination [GO:0016579]; protein K63-linked deubiquitination [GO:0070536]; protein linear deubiquitination [GO:1990108]; regulation of B cell differentiation [GO:0045577]; regulation of cilium assembly [GO:1902017]; regulation of inflammatory response [GO:0050727]; regulation of intrinsic apoptotic signaling pathway [GO:2001242]; regulation of microtubule cytoskeleton organization [GO:0070507]; regulation of mitotic cell cycle [GO:0007346]; regulation of necroptotic process [GO:0060544]; regulation of protein binding [GO:0043393]; regulation of tumor necrosis factor-mediated signaling pathway [GO:0010803]; ripoptosome assembly involved in necroptotic process [GO:1901026]; ubiquitin-dependent protein catabolic process [GO:0006511]; Wnt signaling pathway [GO:0016055]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9NQC7-1; Sequence=Displayed; Name=2; IsoId=Q9NQC7-2; Sequence=VSP_011277; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:18313383}. Cytoplasm, perinuclear region. Cytoplasm, cytoskeleton. Cell membrane; Peripheral membrane protein; Cytoplasmic side. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome {ECO:0000269|PubMed:25134987}. Cytoplasm, cytoskeleton, spindle {ECO:0000269|PubMed:25134987}. Cytoplasm, cytoskeleton, cilium basal body {ECO:0000250|UniProtKB:Q80TQ2}. Note=Detected at the microtubule cytoskeleton during interphase. Detected at the midbody during telophase. During metaphase, it remains localized to the centrosome but is also present along the spindle (PubMed:25134987). {ECO:0000250|UniProtKB:Q80TQ2, ECO:0000269|PubMed:25134987}.


uniprotID: Q15438
geneSymbol: CYTH1
reactome: R-HSA-6811438;
pdb: 1BC9;4A4P;
name: Cytohesin-1 (PH, SEC7 and coiled-coil domain-containing protein 1) (SEC7 homolog B2-1)
length: 398
go: ENSG00000108669;
sequence:

opentargets:
adherens junction [GO:0005912]; bicellular tight junction [GO:0005923]; cytoplasm [GO:0005737]; cytosol [GO:0005829]; extrinsic component of cytoplasmic side of plasma membrane [GO:0031234]; Golgi membrane [GO:0000139]; plasma membrane [GO:0005886]; ARF guanyl-nucleotide exchange factor activity [GO:0005086]; lipid binding [GO:0008289]; establishment of epithelial cell polarity [GO:0090162]; regulation of ARF protein signal transduction [GO:0032012]; regulation of cell adhesion [GO:0030155]; vesicle-mediated transport [GO:0016192]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q15438-1; Sequence=Displayed; Name=2; IsoId=Q15438-2; Sequence=VSP_006034; Name=3; IsoId=Q15438-3; Sequence=VSP_055884; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:17398095}; Peripheral membrane protein {ECO:0000269|PubMed:17398095}. Cytoplasm, cytosol {ECO:0000250|UniProtKB:Q9QX11}. Cell junction, tight junction {ECO:0000250|UniProtKB:Q9QX11}. Cell junction, adherens junction {ECO:0000250|UniProtKB:Q9QX11}. Note=Colocalized with TJP1 during epithelial polarization. {ECO:0000250|UniProtKB:Q9QX11}.


uniprotID: Q8IZN7
geneSymbol: DEFB107A; DEFB107B
reactome: R-HSA-1461957;R-HSA-1461973;
name: Beta-defensin 107 (Beta-defensin 7) (BD-7) (DEFB-7) (Defensin, beta 107)
sequence: MPGAMKIFVFILAALILLAQIFQARTAIHRALISKRMEGHCEAECLTFEVKIGGCRAELAPFCCKNRKKH
length: 70
go: ENSG00000186572;
location: SUBCELLULAR LOCATION: Secreted.
opentargets:
extracellular region [GO:0005576]; lipid binding [GO:0008289]; defense response to bacterium [GO:0042742]; innate immune response [GO:0045087]


uniprotID: Q8WXU2
geneSymbol: DNAAF4
name: Dynein assembly factor 4, axonemal (Dyslexia susceptibility 1 candidate gene 1 protein)
length: 420
go: ENSG00000256061;
snps: rs143493699 rs16976354 rs17819126 rs600753 rs17855756 rs77641439
location: SUBCELLULAR LOCATION: Nucleus. Cytoplasm.
sequence:

opentargets:
centrosome [GO:0005813]; cytoplasm [GO:0005737]; cytosol [GO:0005829]; non-motile cilium [GO:0097730]; nucleus [GO:0005634]; plasma membrane [GO:0005886]; estrogen receptor binding [GO:0030331]; cilium movement [GO:0003341]; determination of left/right symmetry [GO:0007368]; epithelial cilium movement [GO:0003351]; heart development [GO:0007507]; inner dynein arm assembly [GO:0036159]; neuron migration [GO:0001764]; outer dynein arm assembly [GO:0036158]; regulation of intracellular estrogen receptor signaling pathway [GO:0033146]; regulation of proteasomal protein catabolic process [GO:0061136]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q8WXU2-1; Sequence=Displayed; Name=2; IsoId=Q8WXU2-2; Sequence=VSP_011822, VSP_011823; Note=No experimental confirmation available.; Name=3; IsoId=Q8WXU2-3; Sequence=VSP_041379; Note=No experimental confirmation available.; 


uniprotID: Q96F07
geneSymbol: CYFIP2
reactome: R-HSA-2029482;R-HSA-4420097;R-HSA-5663213;
name: Cytoplasmic FMR1-interacting protein 2 (p53-inducible protein 121)
length: 1278
go: ENSG00000055163;
snps: rs3207362
sequence:

opentargets:
cell junction [GO:0030054]; cytoplasm [GO:0005737]; cytosol [GO:0005829]; extracellular exosome [GO:0070062]; membrane [GO:0016020]; neuron projection [GO:0043005]; nucleus [GO:0005634]; perinuclear region of cytoplasm [GO:0048471]; synapse [GO:0045202]; activation of cysteine-type endopeptidase activity [GO:0097202]; apoptotic process [GO:0006915]; axon guidance [GO:0007411]; cell morphogenesis [GO:0000902]; cell projection assembly [GO:0030031]; cell-cell adhesion [GO:0098609]; dendrite extension [GO:0097484]; Fc-gamma receptor signaling pathway involved in phagocytosis [GO:0038096]; positive regulation of neurotrophin TRK receptor signaling pathway [GO:0051388]; positive regulation of proteolysis [GO:0045862]; vascular endothelial growth factor receptor signaling pathway [GO:0048010]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q96F07-1; Sequence=Displayed; Name=2 {ECO:0000269|PubMed:10449408}; IsoId=Q96F07-2; Sequence=VSP_052349; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:10449408, ECO:0000269|PubMed:17245118}. Nucleus {ECO:0000269|PubMed:17245118}. Cytoplasm, perinuclear region {ECO:0000250|UniProtKB:Q5SQX6}. Cell junction, synapse, synaptosome {ECO:0000250|UniProtKB:Q5SQX6}. Note=Highly expressed in the perinuclear regionand enriched in synaptosomes (By similarity). Treatment with leptomycin-B triggers translocation to the nucleus (PubMed:17245118). {ECO:0000250|UniProtKB:Q5SQX6, ECO:0000269|PubMed:17245118}.


uniprotID: Q7Z388
geneSymbol: DPY19L4
length: 723
go: ENSG00000156162;
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Multi-pass membrane protein {ECO:0000305}.
name:
Probable C-mannosyltransferase DPY19L4 (EC 2.4.1.-) (Dpy-19-like protein 4) (Protein dpy-19 homolog 4)

sequence:

opentargets:
integral component of membrane [GO:0016021]; nuclear inner membrane [GO:0005637]; mannosyltransferase activity [GO:0000030]; protein C-linked glycosylation via 2'-alpha-mannosyl-L-tryptophan [GO:0018406]


uniprotID: Q9H1M4
geneSymbol: DEFB127
reactome: R-HSA-1461957;R-HSA-1461973;
name: Beta-defensin 127 (Beta-defensin 27) (DEFB-27) (Defensin, beta 127)
sequence: MGLFMIIAILLFQKPTVTEQLKKCWNNYVQGHCRKICRVNEVPEALCENGRYCCLNIKELEACKKITKPPRPKPATLALTLQDYVTIIENFPSLKTQST
length: 99
snps: rs12624954 rs16995685
location: SUBCELLULAR LOCATION: Secreted {ECO:0000305}.
opentargets:
extracellular region [GO:0005576]; antimicrobial humoral immune response mediated by antimicrobial peptide [GO:0061844]; defense response to bacterium [GO:0042742]; defense response to Gram-negative bacterium [GO:0050829]; innate immune response [GO:0045087]


uniprotID: Q9P219
geneSymbol: CCDC88C
reactome: R-HSA-5368598;
length: 2028
go: ENSG00000015133;
snps: rs587782989 rs7160308 rs17127223 rs1970911 rs941920
location: SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:25062847}.
name:
Protein Daple (Coiled-coil domain-containing protein 88C) (Dvl-associating protein with a high frequency of leucine residues) (hDaple) (Hook-related protein 2) (HkRP2)

sequence:

opentargets:
centrosome [GO:0005813]; cytoplasm [GO:0005737]; dynein light intermediate chain binding [GO:0051959]; microtubule binding [GO:0008017]; PDZ domain binding [GO:0030165]; protein self-association [GO:0043621]; cytoplasmic microtubule organization [GO:0031122]; cytoskeleton-dependent intracellular transport [GO:0030705]; protein destabilization [GO:0031648]; protein homooligomerization [GO:0051260]; regulation of protein phosphorylation [GO:0001932]; stress-activated protein kinase signaling cascade [GO:0031098]; Wnt signaling pathway [GO:0016055]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1 {ECO:0000269|PubMed:10819331, ECO:0000269|Ref.1}; IsoId=Q9P219-1; Sequence=Displayed; Name=2 {ECO:0000269|PubMed:15489334}; IsoId=Q9P219-2; Sequence=VSP_052390, VSP_052391; Note=No experimental confirmation available. {ECO:0000305}; Name=3 {ECO:0000269|Ref.4}; IsoId=Q9P219-3; Sequence=VSP_052389, VSP_052392; Note=Due to intron retention. No experimental confirmation available.; 


uniprotID: Q66K64
geneSymbol: DCAF15
name: DDB1- and CUL4-associated factor 15
length: 600
go: ENSG00000132017;
sequence:

opentargets:
Cul4-RING E3 ubiquitin ligase complex [GO:0080008]; protein-containing complex [GO:0032991]; protein ubiquitination [GO:0016567]


uniprotID: O43237
geneSymbol: DYNC1LI2
pdb: 6F1T;6F1Y;6F38;6F3A;
length: 492
go: ENSG00000135720;
location: SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton {ECO:0000250}.
reactome:
R-HSA-141444;R-HSA-2132295;R-HSA-2467813;R-HSA-2500257;R-HSA-3371497;R-HSA-5663220;R-HSA-6807878;R-HSA-6811436;R-HSA-68877;

name:
Cytoplasmic dynein 1 light intermediate chain 2 (Dynein light intermediate chain 2, cytosolic) (LIC-2) (LIC53/55)

sequence:

opentargets:
centrosome [GO:0005813]; cytoplasmic dynein complex [GO:0005868]; cytosol [GO:0005829]; kinetochore [GO:0000776]; late endosome [GO:0005770]; lysosome [GO:0005764]; membrane [GO:0016020]; microtubule [GO:0005874]; ATP binding [GO:0005524]; dynein heavy chain binding [GO:0045504]; microtubule motor activity [GO:0003777]; antigen processing and presentation of exogenous peptide antigen via MHC class II [GO:0019886]; cellular response to nerve growth factor stimulus [GO:1990090]; centrosome localization [GO:0051642]; ER to Golgi vesicle-mediated transport [GO:0006888]; microtubule cytoskeleton organization [GO:0000226]; microtubule-based movement [GO:0007018]; protein homooligomerization [GO:0051260]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=O43237-1; Sequence=Displayed; Name=2; IsoId=O43237-2; Sequence=VSP_054663; Note=No experimental confirmation available.; 


uniprotID: P17707
geneSymbol: AMD1
reactome: R-HSA-351202;
length: 334
go: ENSG00000123505;
drug: DB08163;DB01917;DB00118;DB03754;
pdb:
1I72;1I79;1I7B;1I7C;1I7M;1JEN;1JL0;1MSV;3DZ2;3DZ3;3DZ4;3DZ5;3DZ6;3DZ7;3EP3;3EP4;3EP5;3EP6;3EP7;3EP8;3EP9;3EPA;3EPB;3H0V;3H0W;

name:
S-adenosylmethionine decarboxylase proenzyme (AdoMetDC) (SAMDC) (EC 4.1.1.50) [Cleaved into: S-adenosylmethionine decarboxylase alpha chain; S-adenosylmethionine decarboxylase beta chain]

sequence:

opentargets:
cytosol [GO:0005829]; adenosylmethionine decarboxylase activity [GO:0004014]; putrescine binding [GO:0019810]; polyamine metabolic process [GO:0006595]; S-adenosylmethioninamine biosynthetic process [GO:0006557]; S-adenosylmethionine metabolic process [GO:0046500]; spermidine biosynthetic process [GO:0008295]; spermine biosynthetic process [GO:0006597]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P17707-1; Sequence=Displayed; Name=2; IsoId=P17707-2; Sequence=VSP_043209; 


uniprotID: Q8TCX1
geneSymbol: DYNC2LI1
reactome: R-HSA-5620924;
name: Cytoplasmic dynein 2 light intermediate chain 1 (Dynein 2 light intermediate chain)
length: 351
go: ENSG00000138036;
snps: rs2288709 rs17854966 rs201948500 rs886037860 rs11556157
sequence:

opentargets:
apical part of cell [GO:0045177]; axoneme [GO:0005930]; centrosome [GO:0005813]; ciliary basal body [GO:0036064]; ciliary tip [GO:0097542]; ciliary transition zone [GO:0035869]; cilium [GO:0005929]; cytoplasm [GO:0005737]; cytoplasmic dynein complex [GO:0005868]; intraciliary transport particle [GO:0030990]; microtubule [GO:0005874]; motile cilium [GO:0031514]; dynein heavy chain binding [GO:0045504]; motor activity [GO:0003774]; determination of left/right symmetry [GO:0007368]; intraciliary retrograde transport [GO:0035721]; intraciliary transport involved in cilium assembly [GO:0035735]; regulation of cilium assembly [GO:1902017]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=5;  Name=1; IsoId=Q8TCX1-1; Sequence=Displayed; Name=2; IsoId=Q8TCX1-2; Sequence=VSP_031289; Name=3; IsoId=Q8TCX1-3; Sequence=VSP_031292; Name=4; IsoId=Q8TCX1-4; Sequence=VSP_031290, VSP_031291; Name=5; IsoId=Q8TCX1-5; Sequence=VSP_031287, VSP_031288; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:26130459}. Cell projection, cilium {ECO:0000269|PubMed:26130459}. Cytoplasm, cytoskeleton, cilium basal body {ECO:0000269|PubMed:26130459}. Cytoplasm, cytoskeleton, cilium axoneme {ECO:0000250|UniProtKB:Q8K0T2}. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome {ECO:0000269|PubMed:26130459}. Note=Localizes to the apical cytoplasm. {ECO:0000250|UniProtKB:Q8K0T2}.


uniprotID: Q8NA75
geneSymbol: DCAF4L2
name: DDB1- and CUL4-associated factor 4-like protein 2 (WD repeat-containing protein 21C)
length: 395
go: ENSG00000176566;
sequence:


uniprotID: A6NGE4
geneSymbol: DCAF8L1
name: DDB1- and CUL4-associated factor 8-like protein 1 (WD repeat-containing protein 42B)
length: 600
go: ENSG00000226372;
snps: rs12388557
sequence:


uniprotID: P0C7V8
geneSymbol: DCAF8L2
name: DDB1- and CUL4-associated factor 8-like protein 2 (WD repeat-containing protein 42C)
length: 631
go: ENSG00000189186;
snps: rs5926895
sequence:


uniprotID: Q6ZRR9
geneSymbol: DCDC5
name: Doublecortin domain-containing protein 5
length: 648
sequence:

opentargets:
cytoplasm [GO:0005737]; Flemming body [GO:0090543]; microtubule [GO:0005874]; midbody [GO:0030496]; mitotic spindle [GO:0072686]; microtubule binding [GO:0008017]; cell cycle [GO:0007049]; cell division [GO:0051301]; intracellular signal transduction [GO:0035556]; regulation of mitotic cytokinesis [GO:1902412]

location:
SUBCELLULAR LOCATION: Midbody, Midbody ring {ECO:0000269|PubMed:22159412}. Midbody {ECO:0000269|PubMed:22159412}. Cytoplasm, cytoskeleton, spindle {ECO:0000269|PubMed:22159412}. Note=Associated with microtubules, in particular, with stabilized microtubules of the mitotic spindle during metaphase and with midbody microtubules during cytokinesis. {ECO:0000269|PubMed:22159412}.


uniprotID: P27707
geneSymbol: DCK
reactome: R-HSA-73614;R-HSA-74217;
name: Deoxycytidine kinase (dCK) (EC 2.7.1.74)
length: 260
go: ENSG00000156136;
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:9342341}.
pdb:
1P5Z;1P60;1P61;1P62;2A2Z;2A30;2A7Q;2NO0;2NO1;2NO6;2NO7;2NO9;2NOA;2QRN;2QRO;2ZI3;2ZI4;2ZI5;2ZI6;2ZI7;2ZI9;2ZIA;3HP1;3IPX;3IPY;3KFX;3MJR;3QEJ;3QEN;3QEO;4JLJ;4JLK;4JLM;4JLN;4KCG;4L5B;4Q18;4Q19;4Q1A;4Q1B;4Q1C;4Q1D;4Q1E;4Q1F;5MQJ;5MQL;5MQT;

sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; nucleus [GO:0005634]; ATP binding [GO:0005524]; deoxycytidine kinase activity [GO:0004137]; deoxynucleoside kinase activity [GO:0019136]; drug binding [GO:0008144]; nucleoside kinase activity [GO:0019206]; protein homodimerization activity [GO:0042803]; purine-containing compound salvage [GO:0043101]; pyrimidine nucleoside salvage [GO:0043097]; pyrimidine nucleotide metabolic process [GO:0006220]

drug:
DB02594;DB00242;DB00631;DB05494;DB00987;DB01262;DB00879;DB01073;DB00441;DB00709;DB01280;DB00642;DB04961;DB00943;


uniprotID: O95822
geneSymbol: MLYCD
reactome: R-HSA-390247;R-HSA-9033241;
pdb: 2YGW;4F0X;
name: Malonyl-CoA decarboxylase, mitochondrial (MCD) (EC 4.1.1.9)
length: 493
go: ENSG00000103150;
sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; mitochondrial matrix [GO:0005759]; mitochondrion [GO:0005739]; peroxisomal matrix [GO:0005782]; peroxisome [GO:0005777]; identical protein binding [GO:0042802]; malonyl-CoA decarboxylase activity [GO:0050080]; signaling receptor binding [GO:0005102]; acetyl-CoA biosynthetic process [GO:0006085]; acyl-CoA metabolic process [GO:0006637]; fatty acid biosynthetic process [GO:0006633]; fatty acid oxidation [GO:0019395]; malonyl-CoA catabolic process [GO:2001294]; positive regulation of fatty acid oxidation [GO:0046321]; protein targeting to peroxisome [GO:0006625]; regulation of fatty acid beta-oxidation [GO:0031998]; regulation of glucose metabolic process [GO:0010906]; response to ischemia [GO:0002931]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative initiation; Named isoforms=2;  Comment=A single transcription start site has been demonstrated in Rat.; Name=Mitochondrial; IsoId=O95822-1; Sequence=Displayed; Name=Cytoplasmic+peroxisomal; IsoId=O95822-2; Sequence=VSP_047649; Note=May be produced by alternative initiation at Met-40 of isoform mitochondrial. Alternatively, represents a proteolytic processed form of the mitochondrial form.; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:10417274}. Mitochondrion matrix {ECO:0000269|PubMed:10417274}. Peroxisome {ECO:0000269|PubMed:10417274}. Peroxisome matrix {ECO:0000250}. Note=Enzymatically active in all three subcellular compartments. {ECO:0000250}.


uniprotID: Q9UJW0
geneSymbol: DCTN4
reactome: R-HSA-2132295;R-HSA-3371497;R-HSA-6807878;R-HSA-6811436;
name: Dynactin subunit 4 (Dyn4) (Dynactin subunit p62)
length: 460
go: ENSG00000132912;
snps: rs11550931 rs35772018 rs11954652 rs3733923
sequence:

opentargets:
cell cortex [GO:0005938]; centrosome [GO:0005813]; cytoplasm [GO:0005737]; cytosol [GO:0005829]; dynactin complex [GO:0005869]; focal adhesion [GO:0005925]; kinetochore [GO:0000776]; nucleus [GO:0005634]; sarcomere [GO:0030017]; spindle pole [GO:0000922]; stress fiber [GO:0001725]; protein N-terminus binding [GO:0047485]; antigen processing and presentation of exogenous peptide antigen via MHC class II [GO:0019886]; ER to Golgi vesicle-mediated transport [GO:0006888]; nuclear migration [GO:0007097]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q9UJW0-1; Sequence=Displayed; Name=2; IsoId=Q9UJW0-2; Sequence=VSP_041306; Name=3; IsoId=Q9UJW0-3; Sequence=VSP_041307; 

location:
SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton {ECO:0000269|PubMed:10671518}. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome {ECO:0000269|PubMed:10671518}. Cytoplasm, cytoskeleton, stress fiber {ECO:0000250|UniProtKB:Q9QUR2}. Cytoplasm, cell cortex {ECO:0000250|UniProtKB:Q9QUR2}. Cytoplasm, myofibril, sarcomere {ECO:0000250|UniProtKB:Q8CBY8}. Note=Has a punctate cytoplasmic distribution as well as centrosomal distribution typical of dynactin (PubMed:10671518). Overexpression in cultured mammalian cells revealed colocalization with cortical actin, stress fibers, and focal adhesion sites, sites of potential interaction between microtubules and the cell cortex (By similarity). In skeletal muscles, costamere localization requires the presence of ANK2 (By similarity). {ECO:0000250|UniProtKB:Q8CBY8, ECO:0000250|UniProtKB:Q9QUR2, ECO:0000269|PubMed:10671518}.


uniprotID: O00399
geneSymbol: DCTN6
reactome: R-HSA-2132295;R-HSA-3371497;R-HSA-6807878;R-HSA-6811436;
pdb: 3TV0;
name: Dynactin subunit 6 (Dynactin subunit p27) (Protein WS-3)
length: 190
go: ENSG00000104671;
sequence:
MAEKTQKSVKIAPGAVVCVESEIRGDVTIGPRTVIHPKARIIAEAGPIVIGEGNLIEEQALIINAYPDNITPDTEDPEPKPMIIGTNNVFEVGCYSQAMKMGDNNVIESKAYVGRNVILTSGCIIGACCNLNTFEVIPENTVIYGADCLRRVQTERPQPQTLQLDFLMKILPNYHHLKKTMKGSSTPVKN

opentargets:
centrosome [GO:0005813]; condensed chromosome kinetochore [GO:0000777]; cytosol [GO:0005829]; dynactin complex [GO:0005869]; antigen processing and presentation of exogenous peptide antigen via MHC class II [GO:0019886]; ER to Golgi vesicle-mediated transport [GO:0006888]

location:
SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton {ECO:0000250}. Chromosome, centromere, kinetochore {ECO:0000269|PubMed:23455152}.


uniprotID: P06132
geneSymbol: UROD
reactome: R-HSA-189451;
pdb: 1JPH;1JPI;1JPK;1R3Q;1R3R;1R3S;1R3T;1R3V;1R3W;1R3Y;1URO;2Q6Z;2Q71;3GVQ;3GVR;3GVV;3GVW;3GW0;3GW3;
name: Uroporphyrinogen decarboxylase (UPD) (URO-D) (EC 4.1.1.37)
length: 367
go: ENSG00000126088;
drug: DB03727;DB04461;
location: SUBCELLULAR LOCATION: Cytoplasm.
sequence:

opentargets:
cytosol [GO:0005829]; nucleoplasm [GO:0005654]; uroporphyrinogen decarboxylase activity [GO:0004853]; heme biosynthetic process [GO:0006783]; protoporphyrinogen IX biosynthetic process [GO:0006782]

snps:
rs11541959 rs764268015 rs769378741 rs121918060 rs1131147 rs776907084 rs376921379 rs11541962 rs11541963 rs1182234844 rs762617943 rs121918063 rs121918058 rs143823335 rs121918064 rs982293378 rs141312224 rs36033115 rs1483459837 rs121918057 rs121918057 rs121918059 rs964670864 rs17849533 rs121918065 rs121918061 rs116233118 rs121918066 


uniprotID: Q14203
geneSymbol: DCTN1
pdb: 1TXQ;2COY;2HKN;2HKQ;2HL3;2HL5;2HQH;3E2U;3TQ7;
name: Dynactin subunit 1 (150 kDa dynein-associated polypeptide) (DAP-150) (DP-150) (p135) (p150-glued)
length: 1278
go: ENSG00000204843;
reactome:
R-HSA-2132295;R-HSA-2565942;R-HSA-3371497;R-HSA-380259;R-HSA-380270;R-HSA-380284;R-HSA-380320;R-HSA-381038;R-HSA-5620912;R-HSA-6807878;R-HSA-6811436;R-HSA-8854518;

sequence:

opentargets:
axon [GO:0030424]; cell cortex [GO:0005938]; cell cortex region [GO:0099738]; centriolar subdistal appendage [GO:0120103]; centriole [GO:0005814]; centrosome [GO:0005813]; cytoplasm [GO:0005737]; cytosol [GO:0005829]; dynactin complex [GO:0005869]; dynein complex [GO:0030286]; intermediate filament cytoskeleton [GO:0045111]; kinetochore [GO:0000776]; membrane [GO:0016020]; microtubule [GO:0005874]; microtubule associated complex [GO:0005875]; microtubule plus-end [GO:0035371]; neuron projection [GO:0043005]; neuronal cell body [GO:0043025]; nuclear envelope [GO:0005635]; spindle [GO:0005819]; spindle pole [GO:0000922]; dynein complex binding [GO:0070840]; microtubule binding [GO:0008017]; motor activity [GO:0003774]; protein kinase binding [GO:0019901]; tubulin binding [GO:0015631]; antigen processing and presentation of exogenous peptide antigen via MHC class II [GO:0019886]; cell division [GO:0051301]; centriole-centriole cohesion [GO:0010457]; ciliary basal body-plasma membrane docking [GO:0097711]; ER to Golgi vesicle-mediated transport [GO:0006888]; establishment of mitotic spindle orientation [GO:0000132]; G2/M transition of mitotic cell cycle [GO:0000086]; IRE1-mediated unfolded protein response [GO:0036498]; maintenance of synapse structure [GO:0099558]; microtubule anchoring at centrosome [GO:0034454]; mitotic cell cycle [GO:0000278]; motor behavior [GO:0061744]; nervous system development [GO:0007399]; neuromuscular junction development [GO:0007528]; neuromuscular process [GO:0050905]; neuron cellular homeostasis [GO:0070050]; neuron projection maintenance [GO:1990535]; non-motile cilium assembly [GO:1905515]; nuclear envelope disassembly [GO:0051081]; positive regulation of microtubule nucleation [GO:0090063]; positive regulation of microtubule polymerization [GO:0031116]; positive regulation of neuromuscular junction development [GO:1904398]; regulation of G2/M transition of mitotic cell cycle [GO:0010389]; regulation of mitotic spindle organization [GO:0060236]; retrograde transport, endosome to Golgi [GO:0042147]; transport along microtubule [GO:0010970]; ventral spinal cord development [GO:0021517]

snps:
rs886039227 rs121909342 rs67586389 rs67586389 rs72466485 rs72466486 rs72466487 rs886039229 rs55862001 rs13420401 rs17721059 rs121909343 rs121909344 rs121909345 rs72466496 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=6;  Name=p150; IsoId=Q14203-1; Sequence=Displayed; Name=p135; IsoId=Q14203-2; Sequence=VSP_000760; Name=3; IsoId=Q14203-3; Sequence=VSP_045392, VSP_045393, VSP_045394; Note=No experimental confirmation available.; Name=4; IsoId=Q14203-4; Sequence=VSP_045393, VSP_045394; Note=No experimental confirmation available.; Name=5; IsoId=Q14203-5; Sequence=VSP_000760, VSP_045394; Note=No experimental confirmation available.; Name=6; IsoId=Q14203-6; Sequence=VSP_047174; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:17828277}. Cytoplasm, cytoskeleton {ECO:0000269|PubMed:17828277, ECO:0000269|PubMed:22777741, ECO:0000269|PubMed:25774020, ECO:0000269|PubMed:26972003}. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome {ECO:0000269|PubMed:14654843, ECO:0000269|PubMed:20719959, ECO:0000269|PubMed:23985322, ECO:0000269|PubMed:25774020}. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome, centriole {ECO:0000269|PubMed:23386061, ECO:0000269|PubMed:25774020}. Cytoplasm, cytoskeleton, spindle {ECO:0000269|PubMed:25774020}. Nucleus envelope {ECO:0000269|PubMed:20679239}. Cytoplasm, cell cortex {ECO:0000269|PubMed:22327364}. Note=Localizes to microtubule plus ends (PubMed:17828277, PubMed:22777741, PubMed:25774020). Localizes preferentially to the ends of tyrosinated microtubules (PubMed:26972003). Localization at centrosome is regulated by SLK-dependent phosphorylation (PubMed:23985322). Localizes to centrosome in a PARKDA-dependent manner (PubMed:20719959). Localizes to the subdistal appendage region of the centriole in a KIF3A-dependent manner (PubMed:23386061). PLK1-mediated phosphorylation at Ser-179 is essential for its localization in the nuclear envelope (PubMed:20679239). {ECO:0000269|PubMed:17828277, ECO:0000269|PubMed:20679239, ECO:0000269|PubMed:20719959, ECO:0000269|PubMed:22777741, ECO:0000269|PubMed:23386061, ECO:0000269|PubMed:23985322, ECO:0000269|PubMed:25774020, ECO:0000269|PubMed:26972003}.


uniprotID: Q14093
geneSymbol: CYLC2
name: Cylicin-2 (Cylicin II) (Multiple-band polypeptide II)
length: 348
go: ENSG00000155833;
snps: rs13293961 rs10990424 rs2298050 rs2298051 rs3763636
sequence:

opentargets:
cytoskeletal calyx [GO:0033150]; nucleus [GO:0005634]; structural constituent of cytoskeleton [GO:0005200]; cell differentiation [GO:0030154]; multicellular organism development [GO:0007275]; spermatogenesis [GO:0007283]

location:
SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton, perinuclear theca, calyx. Note=Sperm head cytoskeletal structure.


uniprotID: Q8TC92
geneSymbol: ENOX1
length: 643
go: ENSG00000120658;
snps: rs7338624
name:
Ecto-NOX disulfide-thiol exchanger 1 (Candidate growth-related and time keeping constitutive hydroquinone [NADH] oxidase) (cCNOX) (Cell proliferation-inducing gene 38 protein) (Constitutive Ecto-NOX) (cNOX) [Includes: Hydroquinone [NADH] oxidase (EC 1.-.-.-); Protein disulfide-thiol oxidoreductase (EC 1.-.-.-)]

sequence:

opentargets:
external side of plasma membrane [GO:0009897]; extracellular space [GO:0005615]; plasma membrane [GO:0005886]; nucleic acid binding [GO:0003676]; oxidoreductase activity [GO:0016491]; ultradian rhythm [GO:0007624]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q8TC92-1; Sequence=Displayed; Name=2; IsoId=Q8TC92-2; Sequence=VSP_056985, VSP_056986, VSP_056987; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:11360993}. Secreted, extracellular space {ECO:0000269|PubMed:11360993}. Note=Extracellular and plasma membrane-associated.


uniprotID: Q16206
geneSymbol: ENOX2
length: 610
go: ENSG00000165675;
drug: DB04915;
snps: rs754363472
name:
Ecto-NOX disulfide-thiol exchanger 2 (APK1 antigen) (Cytosolic ovarian carcinoma antigen 1) (Tumor-associated hydroquinone oxidase) (tNOX) [Includes: Hydroquinone [NADH] oxidase (EC 1.-.-.-); Protein disulfide-thiol oxidoreductase (EC 1.-.-.-)]

sequence:

opentargets:
cytosol [GO:0005829]; external side of plasma membrane [GO:0009897]; extracellular space [GO:0005615]; nucleic acid binding [GO:0003676]; protein disulfide oxidoreductase activity [GO:0015035]; oxidation-reduction process [GO:0055114]; regulation of growth [GO:0040008]; ultradian rhythm [GO:0007624]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q16206-1; Sequence=Displayed; Name=2; IsoId=Q16206-2; Sequence=VSP_015719; 

location:
SUBCELLULAR LOCATION: Cell membrane. Secreted, extracellular space. Note=Extracellular and plasma membrane-associated.


uniprotID: Q7L014
geneSymbol: DDX46
reactome: R-HSA-72163;
name: Probable ATP-dependent RNA helicase DDX46 (EC 3.6.4.13) (DEAD box protein 46) (PRP5 homolog)
length: 1031
go: ENSG00000145833;
snps: rs10447293
sequence:

opentargets:
Cajal body [GO:0015030]; fibrillar center [GO:0001650]; membrane [GO:0016020]; nuclear speck [GO:0016607]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; ATP binding [GO:0005524]; helicase activity [GO:0004386]; RNA binding [GO:0003723]; mRNA splicing, via spliceosome [GO:0000398]

location:
SUBCELLULAR LOCATION: Nucleus speckle {ECO:0000269|PubMed:12234937}. Nucleus, Cajal body {ECO:0000269|PubMed:12234937}. Membrane {ECO:0000305}; Lipid-anchor {ECO:0000305}. Note=Present in Cajal bodies (CBs) and nuclear speckles.


uniprotID: Q9H0S4
geneSymbol: DDX47
reactome: R-HSA-6790901;R-HSA-6791226;
pdb: 3BER;
name: Probable ATP-dependent RNA helicase DDX47 (EC 3.6.4.13) (DEAD box protein 47)
length: 455
go: ENSG00000213782;
sequence:

opentargets:
membrane [GO:0016020]; nucleolus [GO:0005730]; nucleoplasm [GO:0005654]; ATP binding [GO:0005524]; helicase activity [GO:0004386]; RNA binding [GO:0003723]; extrinsic apoptotic signaling pathway via death domain receptors [GO:0008625]; mRNA processing [GO:0006397]; RNA splicing [GO:0008380]; rRNA processing [GO:0006364]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9H0S4-1; Sequence=Displayed; Name=2; IsoId=Q9H0S4-2; Sequence=VSP_045239; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Nucleus, nucleolus {ECO:0000269|PubMed:12429849, ECO:0000269|PubMed:16963496}. Note=Localizes in the nucleolar-organizing region during ribosome biogenesis.


uniprotID: Q9Y6V7
geneSymbol: DDX49
reactome: R-HSA-6790901;R-HSA-6791226;
name: Probable ATP-dependent RNA helicase DDX49 (EC 3.6.4.13) (DEAD box protein 49)
length: 483
go: ENSG00000105671;
snps: rs35802425 rs35614860 rs16995781
sequence:

opentargets:
nucleoplasm [GO:0005654]; ATP binding [GO:0005524]; helicase activity [GO:0004386]; RNA binding [GO:0003723]; rRNA processing [GO:0006364]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9Y6V7-1; Sequence=Displayed; Name=2; IsoId=Q9Y6V7-2; Sequence=VSP_056367, VSP_056368, VSP_056369; Note=No experimental confirmation available.; 


uniprotID: Q9BQ39
geneSymbol: DDX50
pdb: 2E29;
length: 737
go: ENSG00000107625;
location: SUBCELLULAR LOCATION: Nucleus, nucleolus {ECO:0000269|PubMed:12429849}.
name:
ATP-dependent RNA helicase DDX50 (EC 3.6.4.13) (DEAD box protein 50) (Gu-beta) (Nucleolar protein Gu2)

sequence:

opentargets:
membrane [GO:0016020]; nucleolus [GO:0005730]; plasma membrane [GO:0005886]; ATP binding [GO:0005524]; helicase activity [GO:0004386]; RNA binding [GO:0003723]


uniprotID: P26196
geneSymbol: DDX6
reactome: R-HSA-430039;
pdb: 1VEC;2WAX;2WAY;4CRW;4CT4;4CT5;5ANR;6F9S;
length: 483
go: ENSG00000110367;
drug: DB01694;
name:
Probable ATP-dependent RNA helicase DDX6 (EC 3.6.4.13) (ATP-dependent RNA helicase p54) (DEAD box protein 6) (Oncogene RCK)

sequence:

opentargets:
cell-cell adherens junction [GO:0005913]; chromatoid body [GO:0033391]; concave side of sperm head [GO:0061830]; cytoplasm [GO:0005737]; cytoplasmic ribonucleoprotein granule [GO:0036464]; cytoplasmic stress granule [GO:0010494]; cytosol [GO:0005829]; heterochromatin [GO:0000792]; membrane [GO:0016020]; mitochondrion [GO:0005739]; nucleolus [GO:0005730]; nucleus [GO:0005634]; outer dense fiber [GO:0001520]; P-body [GO:0000932]; perinuclear region of cytoplasm [GO:0048471]; RISC complex [GO:0016442]; sperm annulus [GO:0097227]; ATP binding [GO:0005524]; cadherin binding [GO:0045296]; helicase activity [GO:0004386]; protein domain specific binding [GO:0019904]; RNA binding [GO:0003723]; RNA helicase activity [GO:0003724]; cytoplasmic mRNA processing body assembly [GO:0033962]; exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay [GO:0043928]; negative regulation of neuron differentiation [GO:0045665]; spermatid differentiation [GO:0048515]; stem cell population maintenance [GO:0019827]; viral RNA genome packaging [GO:0019074]

location:
SUBCELLULAR LOCATION: Cytoplasm, P-body {ECO:0000269|PubMed:16364915, ECO:0000269|PubMed:16699599, ECO:0000269|PubMed:20616046, ECO:0000269|PubMed:22915799, ECO:0000269|PubMed:26184334}. Cytoplasm {ECO:0000269|PubMed:26184334}. Nucleus {ECO:0000269|PubMed:26184334}. Note=Upon cellular stress, relocalizes to stress granules (PubMed:26184334). {ECO:0000269|PubMed:26184334}.


uniprotID: P59665
geneSymbol: DEFA1; DEFA1B
reactome: R-HSA-1461973;R-HSA-1462054;R-HSA-6798695;
pdb: 2KHT;2PM1;3GNY;3H6C;3HJ2;3HJD;3LO1;3LO2;3LO4;3LO6;3LO9;3LOE;3LVX;4DU0;4LB1;4LB7;4LBB;4LBF;
sequence: MRTLAILAAILLVALQAQAEPLQARADEVAAAPEQIAADIPEVVVSLAWDESLAPKHPGSRKNMACYCRIPACIAGERRYGTCIYQGRLWAFCC
length: 94
go: ENSG00000206047;ENSG00000240247;
location: SUBCELLULAR LOCATION: Secreted.
name:
Neutrophil defensin 1 (Defensin, alpha 1) (HNP-1) (HP-1) (HP1) [Cleaved into: HP 1-56; Neutrophil defensin 2 (HNP-2) (HP-2) (HP2)]

opentargets:
azurophil granule lumen [GO:0035578]; collagen-containing extracellular matrix [GO:0062023]; extracellular exosome [GO:0070062]; extracellular region [GO:0005576]; extracellular space [GO:0005615]; Golgi lumen [GO:0005796]; antibacterial humoral response [GO:0019731]; antimicrobial humoral immune response mediated by antimicrobial peptide [GO:0061844]; antimicrobial humoral response [GO:0019730]; cellular response to lipopolysaccharide [GO:0071222]; chemotaxis [GO:0006935]; defense response to fungus [GO:0050832]; defense response to Gram-negative bacterium [GO:0050829]; defense response to Gram-positive bacterium [GO:0050830]; defense response to protozoan [GO:0042832]; defense response to virus [GO:0051607]; disruption by host of symbiont cells [GO:0051852]; immune response [GO:0006955]; innate immune response in mucosa [GO:0002227]; intracellular estrogen receptor signaling pathway [GO:0030520]; killing of cells of other organism [GO:0031640]; membrane disruption in other organism [GO:0051673]; neutrophil degranulation [GO:0043312]; pore formation in membrane of other organism during symbiotic interaction [GO:0044657]; T cell chemotaxis [GO:0010818]


uniprotID: Q9NUI1
geneSymbol: DECR2
reactome: R-HSA-390247;R-HSA-9033241;
pdb: 4FC6;4FC7;
length: 292
go: ENSG00000242612;
location: SUBCELLULAR LOCATION: Peroxisome {ECO:0000250}.
name:
Peroxisomal 2,4-dienoyl-CoA reductase (pDCR) (EC 1.3.1.34) (2,4-dienoyl-CoA reductase 2) (Short chain dehydrogenase/reductase family 17C member 1)

sequence:

opentargets:
cytosol [GO:0005829]; peroxisomal membrane [GO:0005778]; 2,4-dienoyl-CoA reductase (NADPH) activity [GO:0008670]; signaling receptor binding [GO:0005102]; trans-2-enoyl-CoA reductase (NADPH) activity [GO:0019166]; fatty acid beta-oxidation using acyl-CoA oxidase [GO:0033540]; protein targeting to peroxisome [GO:0006625]; unsaturated fatty acid biosynthetic process [GO:0006636]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q9NUI1-1; Sequence=Displayed; Name=2; IsoId=Q9NUI1-2; Sequence=VSP_013630, VSP_013631, VSP_013632; Note=No experimental confirmation available.; Name=3; IsoId=Q9NUI1-3; Sequence=VSP_013629; Note=No experimental confirmation available.; 


uniprotID: P59666
geneSymbol: DEFA3
reactome: R-HSA-1461973;R-HSA-1462054;
pdb: 1DFN;1ZMH;1ZMI;1ZMK;2PM4;2PM5;
sequence: MRTLAILAAILLVALQAQAEPLQARADEVAAAPEQIAADIPEVVVSLAWDESLAPKHPGSRKNMDCYCRIPACIAGERRYGTCIYQGRLWAFCC
length: 94
go: ENSG00000239839;
location: SUBCELLULAR LOCATION: Secreted.
name:
Neutrophil defensin 3 (Defensin, alpha 3) (HNP-3) (HP-3) (HP3) [Cleaved into: HP 3-56; Neutrophil defensin 2 (HNP-2) (HP-2) (HP2)]

opentargets:
azurophil granule lumen [GO:0035578]; extracellular exosome [GO:0070062]; extracellular region [GO:0005576]; extracellular space [GO:0005615]; Golgi lumen [GO:0005796]; protein homodimerization activity [GO:0042803]; antibacterial humoral response [GO:0019731]; antimicrobial humoral immune response mediated by antimicrobial peptide [GO:0061844]; antimicrobial humoral response [GO:0019730]; cellular response to lipopolysaccharide [GO:0071222]; defense response to fungus [GO:0050832]; defense response to Gram-negative bacterium [GO:0050829]; defense response to Gram-positive bacterium [GO:0050830]; defense response to virus [GO:0051607]; innate immune response in mucosa [GO:0002227]; intracellular estrogen receptor signaling pathway [GO:0030520]; killing of cells of other organism [GO:0031640]; membrane disruption in other organism [GO:0051673]


uniprotID: P12838
geneSymbol: DEFA4
reactome: R-HSA-1461973;R-HSA-1462054;R-HSA-6798695;
pdb: 1ZMM;
name: Neutrophil defensin 4 (Defensin, alpha 4) (HNP-4) (HP-4)
sequence: MRIIALLAAILLVALQVRAGPLQARGDEAPGQEQRGPEDQDISISFAWDKSSALQVSGSTRGMVCSCRLVFCRRTELRVGNCLIGGVSFTYCCTRVD
length: 97
go: ENSG00000164821;
snps: rs28661751 rs28488529 rs762433303
location: SUBCELLULAR LOCATION: Secreted.
opentargets:
azurophil granule [GO:0042582]; extracellular region [GO:0005576]; extracellular space [GO:0005615]; Golgi lumen [GO:0005796]; specific granule lumen [GO:0035580]; protein homodimerization activity [GO:0042803]; antibacterial humoral response [GO:0019731]; antifungal humoral response [GO:0019732]; antimicrobial humoral immune response mediated by antimicrobial peptide [GO:0061844]; antimicrobial humoral response [GO:0019730]; cellular response to lipopolysaccharide [GO:0071222]; defense response to fungus [GO:0050832]; defense response to Gram-negative bacterium [GO:0050829]; defense response to Gram-positive bacterium [GO:0050830]; innate immune response [GO:0045087]; innate immune response in mucosa [GO:0002227]; killing of cells of other organism [GO:0031640]; membrane disruption in other organism [GO:0051673]; neutrophil degranulation [GO:0043312]; T cell chemotaxis [GO:0010818]


uniprotID: Q01523
geneSymbol: DEFA5
reactome: R-HSA-1461973;R-HSA-1462054;
pdb: 1ZMP;2LXZ;2MIT;3I5W;4E82;4E83;4E86;4RBW;4RBX;5CUI;5CUJ;5CUM;
sequence: MRTIAILAAILLVALQAQAESLQERADEATTQKQSGEDNQDLAISFAGNGLSALRTSGSQARATCYCRTGRCATRESLSGVCEISGRLYRLCCR
length: 94
go: ENSG00000164816;
snps: rs7839771
name:
Defensin-5 (Defensin, alpha 5) (HD5(20-94)) [Cleaved into: HD5(23-94); HD5(29-94); HD5(56-94); HD5(63-94)]

opentargets:
extracellular region [GO:0005576]; extracellular space [GO:0005615]; Golgi lumen [GO:0005796]; secretory granule lumen [GO:0034774]; transport vesicle [GO:0030133]; protein homodimerization activity [GO:0042803]; antibacterial humoral response [GO:0019731]; antimicrobial humoral immune response mediated by antimicrobial peptide [GO:0061844]; antimicrobial humoral response [GO:0019730]; cellular response to lipopolysaccharide [GO:0071222]; defense response to fungus [GO:0050832]; defense response to Gram-negative bacterium [GO:0050829]; defense response to Gram-positive bacterium [GO:0050830]; innate immune response [GO:0045087]; innate immune response in mucosa [GO:0002227]; killing of cells of other organism [GO:0031640]; membrane disruption in other organism [GO:0051673]; positive regulation of membrane permeability [GO:1905710]

location:
SUBCELLULAR LOCATION: Secreted {ECO:0000269|PubMed:12021776}. Cytoplasmic vesicle, secretory vesicle {ECO:0000269|PubMed:12021776}. Note=Peptides HD5(20-94), HD5(23-94) and HD5(29-94) are found within tissues, HD5(20-94) being the predominant intracellular form. Peptides HD5(56-94) and HD5(63-94) are found in the extracellular milieu, HD5(63-94) being the most abundant form.


uniprotID: Q9H4E7
geneSymbol: DEF6
name: Differentially expressed in FDCP 6 homolog (DEF-6) (IRF4-binding protein)
length: 631
go: ENSG00000023892;
snps: rs2395617 rs9296146
sequence:

opentargets:
cytoplasm [GO:0005737]; cytoskeleton [GO:0005856]; cytosol [GO:0005829]; filopodium [GO:0030175]; membrane [GO:0016020]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; perinuclear region of cytoplasm [GO:0048471]; plasma membrane [GO:0005886]

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:15023524}. Cell membrane {ECO:0000269|PubMed:15023524, ECO:0000305|PubMed:12651066}. Nucleus {ECO:0000269|PubMed:15023524}. Cytoplasm, cytoskeleton {ECO:0000269|PubMed:15023524}. Cytoplasm, perinuclear region {ECO:0000269|PubMed:15023524}. Cell projection, filopodium {ECO:0000269|PubMed:15023524}. Note=Recruited to the plasma membrane upon binding phosphatidylinositol 3,4,5-trisphosphate (PubMed:15023524). Binds to actin filaments (PubMed:15023524). {ECO:0000269|PubMed:15023524}.


uniprotID: Q6ZN54
geneSymbol: DEF8
name: Differentially expressed in FDCP 8 homolog (DEF-8)
length: 512
go: ENSG00000140995;
snps: rs7194844
sequence:

opentargets:
intracellular [GO:0005622]; metal ion binding [GO:0046872]; intracellular signal transduction [GO:0035556]; lysosome localization [GO:0032418]; positive regulation of bone resorption [GO:0045780]; positive regulation of ruffle assembly [GO:1900029]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=6;  Name=1; IsoId=Q6ZN54-1; Sequence=Displayed; Name=2; IsoId=Q6ZN54-2; Sequence=VSP_031821, VSP_031823, VSP_031824; Name=3; IsoId=Q6ZN54-3; Sequence=VSP_031821, VSP_031822; Name=4; IsoId=Q6ZN54-4; Sequence=VSP_037523; Name=5; IsoId=Q6ZN54-5; Sequence=VSP_031821; Name=6; IsoId=Q6ZN54-6; Sequence=VSP_031821, VSP_047179; Note=No experimental confirmation available. Gene prediction based on cDNA data. {ECO:0000244|PubMed:22814378}; 


uniprotID: Q6IQ26
geneSymbol: DENND5A
reactome: R-HSA-8876198;
name: DENN domain-containing protein 5A (Rab6-interacting protein 1) (Rab6IP1)
length: 1287
go: ENSG00000184014;
snps: rs952374 rs1057519309
location: SUBCELLULAR LOCATION: Golgi apparatus membrane {ECO:0000250|UniProtKB:Q6PAL8}.
sequence:

opentargets:
cytosol [GO:0005829]; Golgi membrane [GO:0000139]; trans-Golgi network [GO:0005802]; Rab guanyl-nucleotide exchange factor activity [GO:0017112]; negative regulation of neuron projection development [GO:0010977]; retrograde transport, endosome to Golgi [GO:0042147]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q6IQ26-1; Sequence=Displayed; Name=2; IsoId=Q6IQ26-2; Sequence=VSP_044688; Note=No experimental confirmation available.; 


uniprotID: Q6ZUT9
geneSymbol: DENND5B
reactome: R-HSA-8876198;
name: DENN domain-containing protein 5B (Rab6IP1-like protein)
length: 1274
go: ENSG00000170456;
snps: rs4930979 rs1056320
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Single-pass membrane protein {ECO:0000305}.
sequence:

opentargets:
cytosol [GO:0005829]; integral component of membrane [GO:0016021]; Rab guanyl-nucleotide exchange factor activity [GO:0017112]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=Q6ZUT9-1; Sequence=Displayed; Name=2; IsoId=Q6ZUT9-2; Sequence=VSP_032673; Name=3; IsoId=Q6ZUT9-3; Sequence=VSP_032672, VSP_032675, VSP_032676; Name=4; IsoId=Q6ZUT9-4; Sequence=VSP_032674, VSP_032677, VSP_032678; 


uniprotID: O94850
geneSymbol: DDN
name: Dendrin
length: 711
go: ENSG00000181418;
snps: rs10783299
sequence:

opentargets:
cell projection [GO:0042995]; cytoplasm [GO:0005737]; dendritic spine membrane [GO:0032591]; endoplasmic reticulum membrane [GO:0005789]; nucleus [GO:0005634]; perikaryon [GO:0043204]; RNA polymerase II proximal promoter sequence-specific DNA binding [GO:0000978]; transcription factor activity, RNA polymerase II proximal promoter sequence-specific DNA binding [GO:0000982]; positive regulation of transcription by RNA polymerase II [GO:0045944]

location:
SUBCELLULAR LOCATION: Cell projection, dendritic spine membrane; Peripheral membrane protein. Cytoplasm. Endoplasmic reticulum membrane {ECO:0000250}; Peripheral membrane protein {ECO:0000250}; Cytoplasmic side {ECO:0000250}. Perikaryon {ECO:0000250}. Nucleus {ECO:0000250}. Note=Enriched at the cytoplasmic insertion of the slit diaphragm into the foot process of podocytes and associated with polyribosomes in dendrites. {ECO:0000250}.


uniprotID: Q9GZP9
geneSymbol: DERL2
reactome: R-HSA-382556;R-HSA-5358346;R-HSA-5362768;R-HSA-5678895;R-HSA-901032;
length: 239
go: ENSG00000072849;
name:
Derlin-2 (Degradation in endoplasmic reticulum protein 2) (DERtrin-2) (Der1-like protein 2) (F-LAN-1) (F-LANa)

sequence:

opentargets:
early endosome [GO:0005769]; endoplasmic reticulum [GO:0005783]; endoplasmic reticulum membrane [GO:0005789]; endoplasmic reticulum quality control compartment [GO:0044322]; integral component of endoplasmic reticulum membrane [GO:0030176]; late endosome [GO:0005770]; membrane [GO:0016020]; endoplasmic reticulum mannose trimming [GO:1904380]; endoplasmic reticulum unfolded protein response [GO:0030968]; negative regulation of retrograde protein transport, ER to cytosol [GO:1904153]; positive regulation of cell growth [GO:0030307]; positive regulation of cell proliferation [GO:0008284]; retrograde protein transport, ER to cytosol [GO:0030970]; suckling behavior [GO:0001967]; ubiquitin-dependent ERAD pathway [GO:0030433]

location:
SUBCELLULAR LOCATION: Endoplasmic reticulum membrane {ECO:0000269|PubMed:15215855, ECO:0000269|PubMed:16449189}; Multi-pass membrane protein {ECO:0000269|PubMed:15215855, ECO:0000269|PubMed:16449189}.


uniprotID: P15924
geneSymbol: DSP
reactome: R-HSA-351906;R-HSA-6798695;R-HSA-6805567;R-HSA-6809371;
pdb: 1LM5;1LM7;3R6N;5DZZ;
name: Desmoplakin (DP) (250/210 kDa paraneoplastic pemphigus antigen)
length: 2871
go: ENSG00000096696;
sequence:

opentargets:
basolateral plasma membrane [GO:0016323]; cornified envelope [GO:0001533]; cytoplasm [GO:0005737]; desmosome [GO:0030057]; extracellular exosome [GO:0070062]; fascia adherens [GO:0005916]; ficolin-1-rich granule membrane [GO:0101003]; intercalated disc [GO:0014704]; intermediate filament [GO:0005882]; membrane [GO:0016020]; nucleus [GO:0005634]; plasma membrane [GO:0005886]; cell adhesion molecule binding [GO:0050839]; cell adhesive protein binding involved in bundle of His cell-Purkinje myocyte communication [GO:0086083]; protein binding, bridging [GO:0030674]; protein kinase C binding [GO:0005080]; RNA binding [GO:0003723]; scaffold protein binding [GO:0097110]; structural constituent of cytoskeleton [GO:0005200]; structural molecule activity [GO:0005198]; adherens junction organization [GO:0034332]; bundle of His cell-Purkinje myocyte adhesion involved in cell communication [GO:0086073]; cell-cell adhesion [GO:0098609]; cornification [GO:0070268]; desmosome organization [GO:0002934]; epidermis development [GO:0008544]; intermediate filament cytoskeleton organization [GO:0045104]; intermediate filament organization [GO:0045109]; keratinization [GO:0031424]; keratinocyte differentiation [GO:0030216]; neutrophil degranulation [GO:0043312]; peptide cross-linking [GO:0018149]; protein localization to adherens junction [GO:0071896]; regulation of heart rate by cardiac conduction [GO:0086091]; regulation of ventricular cardiac muscle cell action potential [GO:0098911]; skin development [GO:0043588]; ventricular compact myocardium morphogenesis [GO:0003223]; wound healing [GO:0042060]

snps:
rs121912993 rs121912992 rs17604693 rs934142779 rs606231295 rs606231294 rs777407386 rs375919492 rs2076299 rs28763966 rs28763967 rs6929069 rs34738426 rs78652302 rs28931610 rs376923069 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=DPI; Synonyms=DP1; IsoId=P15924-1; Sequence=Displayed; Name=DPII; Synonyms=DP2; IsoId=P15924-2; Sequence=VSP_005070; Name=DSPIa; IsoId=P15924-3; Sequence=VSP_053769; Note=Minor isoform.; 

location:
SUBCELLULAR LOCATION: Cell junction, desmosome {ECO:0000269|PubMed:12802069}. Cytoplasm, cytoskeleton {ECO:0000269|PubMed:12802069}. Cell membrane {ECO:0000250|UniProtKB:E9Q557}. Note=Innermost portion of the desmosomal plaque. Colocalizes with epidermal KRT5-KRT14 and simple KRT8-KRT18 keratins and VIM intermediate filaments network (PubMed:12802069). Localizes at the intercalated disk in cardiomyocytes (By similarity). {ECO:0000250|UniProtKB:E9Q557, ECO:0000269|PubMed:12802069}.


uniprotID: P60981
geneSymbol: DSTN
name: Destrin (Actin-depolymerizing factor) (ADF)
length: 165
go: ENSG00000125868;
drug: DB04147;
sequence:
MASGVQVADEVCRIFYDMKVRKCSTPEEIKKRKKAVIFCLSADKKCIIVEEGKEILVGDVGVTITDPFKHFVGMLPEKDCRYALYDASFETKESRKEELMFFLWAPELAPLKSKMIYASSKDAIKKKFQGIKHECQANGPEDLNRACIAEKLGGSLIVAFEGCPV

opentargets:
actin cytoskeleton [GO:0015629]; cortical actin cytoskeleton [GO:0030864]; extracellular exosome [GO:0070062]; actin filament binding [GO:0051015]; actin filament depolymerization [GO:0030042]; actin filament fragmentation [GO:0030043]; actin filament severing [GO:0051014]; actin polymerization or depolymerization [GO:0008154]; positive regulation of actin filament depolymerization [GO:0030836]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P60981-1; Sequence=Displayed; Name=2; IsoId=P60981-2; Sequence=VSP_043069; Note=No experimental confirmation available.; 


uniprotID: Q05D60
geneSymbol: DEUP1
name: Deuterosome assembly protein 1 (Coiled-coil domain-containing protein 67)
length: 604
go: ENSG00000165325;
snps: rs34205920 rs12282288 rs12288277 rs2259633
location: SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250}. Note=Localizes to the deuterosome. {ECO:0000250}.
sequence:

opentargets:
centriole [GO:0005814]; deuterosome [GO:0098536]; identical protein binding [GO:0042802]; cell projection organization [GO:0030030]; centriole replication [GO:0007099]; de novo centriole assembly involved in multi-ciliated epithelial cell differentiation [GO:0098535]; multi-ciliated epithelial cell differentiation [GO:1903251]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q05D60-1; Sequence=Displayed; Name=2; IsoId=Q05D60-2; Sequence=VSP_027367, VSP_027368; Note=No experimental confirmation available.; 


uniprotID: Q6ICB0
geneSymbol: DESI1
pdb: 3EBQ;
length: 168
go: ENSG00000100418;
location: SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250}. Nucleus {ECO:0000250}.
name:
Desumoylating isopeptidase 1 (DeSI-1) (EC 3.4.-.-) (PPPDE peptidase domain-containing protein 2) (Protein FAM152B)

sequence:
MEPPNLYPVKLYVYDLSKGLARRLSPIMLGKQLEGIWHTSIVVHKDEFFFGSGGISSCPPGGTLLGPPDSVVDVGSTEVTEEIFLEYLSSLGESLFRGEAYNLFEHNCNTFSNEVAQFLTGRKIPSYITDLPSEVLSTPFGQALRPLLDSIQIQPPGGSSVGRPNGQS

opentargets:
cytoplasm [GO:0005737]; nucleus [GO:0005634]; identical protein binding [GO:0042802]; peptidase activity [GO:0008233]


uniprotID: O76075
geneSymbol: DFFB
reactome: R-HSA-211227;
pdb: 1IBX;
length: 338
go: ENSG00000169598;
snps: rs12738235 rs12564400
location: SUBCELLULAR LOCATION: Cytoplasm. Nucleus.
name:
DNA fragmentation factor subunit beta (EC 3.-.-.-) (Caspase-activated deoxyribonuclease) (CAD) (Caspase-activated DNase) (Caspase-activated nuclease) (CPAN) (DNA fragmentation factor 40 kDa subunit) (DFF-40)

sequence:

opentargets:
cytosol [GO:0005829]; nuclear chromatin [GO:0000790]; nucleolus [GO:0005730]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; deoxyribonuclease activity [GO:0004536]; disordered domain specific binding [GO:0097718]; enzyme binding [GO:0019899]; identical protein binding [GO:0042802]; protein domain specific binding [GO:0019904]; apoptotic chromosome condensation [GO:0030263]; apoptotic DNA fragmentation [GO:0006309]; DNA catabolic process [GO:0006308]; protein homooligomerization [GO:0051260]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=Alpha; IsoId=O76075-1; Sequence=Displayed; Name=Beta; IsoId=O76075-2; Sequence=VSP_001080; Note=May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.; Name=Gamma; IsoId=O76075-3; Sequence=VSP_001081, VSP_001082; Note=May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.; Name=Delta; IsoId=O76075-4; Sequence=VSP_001083, VSP_001084; Note=May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.; 


uniprotID: Q58FF3
geneSymbol: HSP90B2P
name: Putative endoplasmin-like protein (Putative heat shock protein 90 kDa beta member 2)
length: 399
opentargets: ATP binding [GO:0005524]; unfolded protein binding [GO:0051082]; protein folding [GO:0006457]
sequence:


uniprotID: P14625
geneSymbol: HSP90B1
reactome: R-HSA-1679131;R-HSA-3000480;R-HSA-381183;R-HSA-381426;R-HSA-6785807;R-HSA-8957275;
pdb: 4NH9;
length: 803
go: ENSG00000166598;
drug: DB02935;DB02103;DB03719;DB03758;DB00615;
name:
Endoplasmin (94 kDa glucose-regulated protein) (GRP-94) (Heat shock protein 90 kDa beta member 1) (Tumor rejection antigen 1) (gp96 homolog)

sequence:

opentargets:
collagen-containing extracellular matrix [GO:0062023]; cytosol [GO:0005829]; endocytic vesicle lumen [GO:0071682]; endoplasmic reticulum [GO:0005783]; endoplasmic reticulum chaperone complex [GO:0034663]; endoplasmic reticulum lumen [GO:0005788]; endoplasmic reticulum membrane [GO:0005789]; extracellular exosome [GO:0070062]; extracellular region [GO:0005576]; focal adhesion [GO:0005925]; melanosome [GO:0042470]; membrane [GO:0016020]; midbody [GO:0030496]; nucleus [GO:0005634]; perinuclear region of cytoplasm [GO:0048471]; plasma membrane [GO:0005886]; protein-containing complex [GO:0032991]; ATP binding [GO:0005524]; calcium ion binding [GO:0005509]; low-density lipoprotein particle receptor binding [GO:0050750]; protein phosphatase binding [GO:0019903]; RNA binding [GO:0003723]; unfolded protein binding [GO:0051082]; actin rod assembly [GO:0031247]; ATF6-mediated unfolded protein response [GO:0036500]; cellular protein metabolic process [GO:0044267]; cellular response to ATP [GO:0071318]; cytokine-mediated signaling pathway [GO:0019221]; negative regulation of apoptotic process [GO:0043066]; post-translational protein modification [GO:0043687]; protein folding in endoplasmic reticulum [GO:0034975]; protein transport [GO:0015031]; receptor-mediated endocytosis [GO:0006898]; regulation of phosphoprotein phosphatase activity [GO:0043666]; response to endoplasmic reticulum stress [GO:0034976]; response to hypoxia [GO:0001666]; retrograde protein transport, ER to cytosol [GO:0030970]; sequestering of calcium ion [GO:0051208]; toll-like receptor signaling pathway [GO:0002224]; ubiquitin-dependent ERAD pathway [GO:0030433]

location:
SUBCELLULAR LOCATION: Endoplasmic reticulum lumen. Melanosome. Note=Identified by mass spectrometry in melanosome fractions from stage I to stage IV.


uniprotID: Q8WYQ5
geneSymbol: DGCR8
reactome: R-HSA-203927;
pdb: 1X47;2YT4;3LE4;5B16;
name: Microprocessor complex subunit DGCR8 (DiGeorge syndrome critical region 8)
length: 773
go: ENSG00000128191;
snps: rs35987994 rs11546015
sequence:

opentargets:
cytoplasm [GO:0005737]; microprocessor complex [GO:0070877]; nucleolus [GO:0005730]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; double-stranded RNA binding [GO:0003725]; heme binding [GO:0020037]; identical protein binding [GO:0042802]; metal ion binding [GO:0046872]; primary miRNA binding [GO:0070878]; protein homodimerization activity [GO:0042803]; primary miRNA processing [GO:0031053]; RNA phosphodiester bond hydrolysis, endonucleolytic [GO:0090502]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q8WYQ5-1; Sequence=Displayed; Name=2; IsoId=Q8WYQ5-2; Sequence=VSP_003847, VSP_003848; Name=3; IsoId=Q8WYQ5-3; Sequence=VSP_012707; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:16906129, ECO:0000269|PubMed:16963499, ECO:0000269|PubMed:17159994, ECO:0000269|PubMed:22118463}. Nucleus, nucleolus {ECO:0000269|PubMed:17159994}. Note=Colocalizes with nucleolin and DROSHA in the nucleolus. Mostly detected in the nucleolus as electron-dense granular patches around the fibrillar center (FC) and granular component (GC). Also detected in the nucleoplasm as small foci adjacent to splicing speckles near the chromatin structure. Localized with DROSHA in GW bodies (GWBs), also known as P-bodies (PubMed:17159994).


uniprotID: Q9BY27
geneSymbol: DGCR6L
name: Protein DGCR6L (DiGeorge syndrome critical region 6-like protein)
length: 220
go: ENSG00000128185;
opentargets: nucleus [GO:0005634]
snps: rs1056818 rs1056804
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:15821931}. Note=Predominantly nuclear.
sequence:


uniprotID: Q9Y6T7
geneSymbol: DGKB
reactome: R-HSA-114508;
length: 804
go: ENSG00000136267;
snps: rs34616903
location: SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250}.
name:
Diacylglycerol kinase beta (DAG kinase beta) (EC 2.7.1.107) (90 kDa diacylglycerol kinase) (Diglyceride kinase beta) (DGK-beta)

sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; glutamatergic synapse [GO:0098978]; plasma membrane [GO:0005886]; Schaffer collateral - CA1 synapse [GO:0098685]; ATP binding [GO:0005524]; calcium ion binding [GO:0005509]; diacylglycerol kinase activity [GO:0004143]; NAD+ kinase activity [GO:0003951]; glycerolipid metabolic process [GO:0046486]; intracellular signal transduction [GO:0035556]; lipid phosphorylation [GO:0046834]; modulation of chemical synaptic transmission [GO:0050804]; platelet activation [GO:0030168]; protein kinase C-activating G protein-coupled receptor signaling pathway [GO:0007205]; regulation of postsynapse organization [GO:0099175]; response to bacterium [GO:0009617]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9Y6T7-1; Sequence=Displayed; Name=2; IsoId=Q9Y6T7-2; Sequence=VSP_021898, VSP_021899; Note=No experimental confirmation available.; 


uniprotID: Q86XP1
geneSymbol: DGKH
reactome: R-HSA-114508;
name: Diacylglycerol kinase eta (DAG kinase eta) (EC 2.7.1.107) (Diglyceride kinase eta) (DGK-eta)
length: 1220
go: ENSG00000102780;
snps: rs17646069
sequence:

opentargets:
cytoplasm [GO:0005737]; endosome [GO:0005768]; plasma membrane [GO:0005886]; ATP binding [GO:0005524]; diacylglycerol kinase activity [GO:0004143]; metal ion binding [GO:0046872]; NAD+ kinase activity [GO:0003951]; intracellular signal transduction [GO:0035556]; phosphatidic acid metabolic process [GO:0046473]; platelet activation [GO:0030168]; protein complex oligomerization [GO:0051259]; protein kinase C-activating G protein-coupled receptor signaling pathway [GO:0007205]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; Synonyms=DAG kinase eta-2, DGKH-2; IsoId=Q86XP1-1; Sequence=Displayed; Name=2; Synonyms=DAG kinase eta-1, DGKH-1; IsoId=Q86XP1-2; Sequence=VSP_019185; Name=3; IsoId=Q86XP1-3; Sequence=VSP_019183, VSP_019186; Note=No experimental confirmation available.; Name=4; IsoId=Q86XP1-5; Sequence=VSP_019183; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:12810723, ECO:0000269|PubMed:19710016}. Cell membrane {ECO:0000269|PubMed:12810723, ECO:0000269|PubMed:19710016}. Note=Translocated from the cytoplasm to endosomes in response to stress stimuli (PubMed:12810723). Isoform 2 is rapidly relocated back to the cytoplasm upon removal of stress stimuli, whereas isoform 1 exhibits sustained endosomal association (PubMed:12810723). Translocates from the cytoplasm to the cell membrane in the presence of active GTP-bound form of HRAS (PubMed:19710016).


uniprotID: O75912
geneSymbol: DGKI
reactome: R-HSA-114508;
name: Diacylglycerol kinase iota (DAG kinase iota) (EC 2.7.1.107) (Diglyceride kinase iota) (DGK-iota)
length: 1065
go: ENSG00000157680;
snps: rs61757580
location: SUBCELLULAR LOCATION: Cytoplasm. Nucleus.
sequence:

opentargets:
axon terminus [GO:0043679]; cytoplasm [GO:0005737]; cytosol [GO:0005829]; dendritic spine [GO:0043197]; excitatory synapse [GO:0060076]; extrinsic component of postsynaptic density membrane [GO:0099147]; extrinsic component of presynaptic active zone membrane [GO:0098891]; glutamatergic synapse [GO:0098978]; guanyl-nucleotide exchange factor complex [GO:0032045]; neuronal cell body [GO:0043025]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; perinuclear region of cytoplasm [GO:0048471]; plasma membrane [GO:0005886]; protein-containing complex [GO:0032991]; Schaffer collateral - CA1 synapse [GO:0098685]; synapse [GO:0045202]; synaptic vesicle [GO:0008021]; ATP binding [GO:0005524]; diacylglycerol kinase activity [GO:0004143]; GTPase inhibitor activity [GO:0005095]; metal ion binding [GO:0046872]; NAD+ kinase activity [GO:0003951]; Ras GTPase binding [GO:0017016]; excitatory postsynaptic potential [GO:0060079]; habituation [GO:0046959]; intracellular signal transduction [GO:0035556]; lipid phosphorylation [GO:0046834]; neurotransmitter secretion [GO:0007269]; platelet activation [GO:0030168]; positive regulation of Ras protein signal transduction [GO:0046579]; protein kinase C-activating G protein-coupled receptor signaling pathway [GO:0007205]; regulation of long-term synaptic depression [GO:1900452]; regulation of synaptic transmission, glutamatergic [GO:0051966]; regulation of synaptic vesicle exocytosis [GO:2000300]


