# annotation

uniprotID: Q8N4N8
geneSymbol: KIF2B
name: Kinesin-like protein KIF2B
length: 673
go: ENSG00000141200;
snps: rs3803824 rs9912492 rs59657238 rs4561518 rs4561519
sequence:

opentargets:
centrosome [GO:0005813]; condensed chromosome kinetochore [GO:0000777]; cytosol [GO:0005829]; intercellular bridge [GO:0045171]; kinesin complex [GO:0005871]; microtubule [GO:0005874]; microtubule cytoskeleton [GO:0015630]; mitotic spindle [GO:0072686]; nucleolus [GO:0005730]; nucleus [GO:0005634]; ATP binding [GO:0005524]; ATPase activity [GO:0016887]; microtubule binding [GO:0008017]; microtubule motor activity [GO:0003777]; antigen processing and presentation of exogenous peptide antigen via MHC class II [GO:0019886]; cell division [GO:0051301]; metaphase plate congression [GO:0051310]; microtubule depolymerization [GO:0007019]; microtubule-based movement [GO:0007018]; regulation of chromosome segregation [GO:0051983]; retrograde vesicle-mediated transport, Golgi to ER [GO:0006890]

location:
SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton, microtubule organizing center, centrosome {ECO:0000269|PubMed:17538014}. Cytoplasm, cytoskeleton, spindle {ECO:0000269|PubMed:17538014}. Chromosome, centromere, kinetochore {ECO:0000269|PubMed:17538014}. Note=Association with kinetochore is transient.


uniprotID: Q2M1V0
geneSymbol: ISX
name: Intestine-specific homeobox (RAX-like homeobox)
length: 245
go: ENSG00000175329;
snps: rs361863 rs362090 rs8140287 rs7291048
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000255|PROSITE-ProRule:PRU00108}.
sequence:


uniprotID: Q9ULR0
geneSymbol: ISY1
reactome: R-HSA-6781823;R-HSA-6781827;R-HSA-6782135;R-HSA-6782210;R-HSA-72163;
pdb: 5YZG;
name: Pre-mRNA-splicing factor ISY1 homolog
length: 285
go: ENSG00000240682;ENSG00000261796;
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:11991638, ECO:0000269|PubMed:25599396}.
sequence:

opentargets:
catalytic step 2 spliceosome [GO:0071013]; nucleoplasm [GO:0005654]; post-mRNA release spliceosomal complex [GO:0071014]; post-spliceosomal complex [GO:0071020]; Prp19 complex [GO:0000974]; RNA binding [GO:0003723]; generation of catalytic spliceosome for second transesterification step [GO:0000350]; mRNA 3'-splice site recognition [GO:0000389]; mRNA splicing, via spliceosome [GO:0000398]; transcription-coupled nucleotide-excision repair [GO:0006283]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=3; IsoId=Q9ULR0-3; Sequence=Displayed; Name=2; Synonyms=ISY1-RAB43; IsoId=Q9ULR0-1; Sequence=VSP_039411; Note=Based on a readthrough transcript which may produce a ISY1-RAB43 fusion protein. No experimental confirmation available.; Name=1; IsoId=Q9ULR0-2; Sequence=VSP_039410; Note=No experimental confirmation available.; 


uniprotID: P26440
geneSymbol: IVD
reactome: R-HSA-70895;
pdb: 1IVH;
name: Isovaleryl-CoA dehydrogenase, mitochondrial (IVD) (EC 1.3.8.4)
length: 426
go: ENSG00000128928;
drug: DB04036;DB03147;
snps: rs142761835 rs28940889
location: SUBCELLULAR LOCATION: Mitochondrion matrix.
sequence:

opentargets:
mitochondrial matrix [GO:0005759]; mitochondrion [GO:0005739]; flavin adenine dinucleotide binding [GO:0050660]; isovaleryl-CoA dehydrogenase activity [GO:0008470]; branched-chain amino acid catabolic process [GO:0009083]; fatty acid beta-oxidation using acyl-CoA dehydrogenase [GO:0033539]; leucine catabolic process [GO:0006552]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P26440-1; Sequence=Displayed; Name=2; IsoId=P26440-2; Sequence=VSP_045193; Note=No experimental confirmation available.; 


uniprotID: O14782
geneSymbol: KIF3C
reactome: R-HSA-2132295;R-HSA-5620924;R-HSA-6811434;R-HSA-983189;
pdb: 3B6V;
name: Kinesin-like protein KIF3C
length: 793
snps: rs1465878
location: SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton {ECO:0000305}.
sequence:

opentargets:
ciliary tip [GO:0097542]; cilium [GO:0005929]; cytosol [GO:0005829]; kinesin complex [GO:0005871]; microtubule [GO:0005874]; ATP binding [GO:0005524]; ATPase activity [GO:0016887]; microtubule binding [GO:0008017]; microtubule motor activity [GO:0003777]; motor activity [GO:0003774]; antigen processing and presentation of exogenous peptide antigen via MHC class II [GO:0019886]; intraciliary transport involved in cilium assembly [GO:0035735]; microtubule-based movement [GO:0007018]; organelle transport along microtubule [GO:0072384]; retrograde vesicle-mediated transport, Golgi to ER [GO:0006890]


uniprotID: Q14624
geneSymbol: ITIH4
reactome: R-HSA-114608;
length: 930
go: ENSG00000055955;
snps: rs13072536 rs2276814 rs4687657 rs2256734 rs2535621
location: SUBCELLULAR LOCATION: Secreted.
name:
Inter-alpha-trypsin inhibitor heavy chain H4 (ITI heavy chain H4) (ITI-HC4) (Inter-alpha-inhibitor heavy chain 4) (Inter-alpha-trypsin inhibitor family heavy chain-related protein) (IHRP) (Plasma kallikrein sensitive glycoprotein 120) (Gp120) (PK-120) [Cleaved into: 70 kDa inter-alpha-trypsin inhibitor heavy chain H4; 35 kDa inter-alpha-trypsin inhibitor heavy chain H4]

sequence:

opentargets:
blood microparticle [GO:0072562]; collagen-containing extracellular matrix [GO:0062023]; extracellular exosome [GO:0070062]; extracellular region [GO:0005576]; plasma membrane [GO:0005886]; platelet dense granule lumen [GO:0031089]; endopeptidase inhibitor activity [GO:0004866]; serine-type endopeptidase inhibitor activity [GO:0004867]; acute-phase response [GO:0006953]; hyaluronan metabolic process [GO:0030212]; platelet degranulation [GO:0002576]; response to cytokine [GO:0034097]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=Q14624-1; Sequence=Displayed; Name=2; IsoId=Q14624-2; Sequence=VSP_002761, VSP_002762; Note=No experimental confirmation available.; Name=3; IsoId=Q14624-3; Sequence=VSP_002761; Note=No experimental confirmation available.; Name=4; IsoId=Q14624-4; Sequence=VSP_002761, VSP_044764, VSP_044765; Note=No experimental confirmation available.; 


uniprotID: P23229
geneSymbol: ITGA6
reactome: R-HSA-2022090;R-HSA-210991;R-HSA-216083;R-HSA-3000157;R-HSA-3000170;R-HSA-446107;
length: 1130
go: ENSG00000091409;
name:
Integrin alpha-6 (CD49 antigen-like family member F) (VLA-6) (CD antigen CD49f) [Cleaved into: Integrin alpha-6 heavy chain; Integrin alpha-6 light chain; Processed integrin alpha-6 (Alpha6p)]

sequence:

opentargets:
basal plasma membrane [GO:0009925]; basement membrane [GO:0005604]; cell surface [GO:0009986]; cell-cell adherens junction [GO:0005913]; external side of plasma membrane [GO:0009897]; filopodium [GO:0030175]; focal adhesion [GO:0005925]; hemidesmosome [GO:0030056]; integrin alpha6-beta4 complex [GO:0034676]; plasma membrane [GO:0005886]; cadherin binding [GO:0045296]; insulin-like growth factor I binding [GO:0031994]; laminin binding [GO:0043236]; metal ion binding [GO:0046872]; neuregulin binding [GO:0038132]; protein-containing complex binding [GO:0044877]; amelogenesis [GO:0097186]; brown fat cell differentiation [GO:0050873]; cell-cell adhesion [GO:0098609]; cell-matrix adhesion [GO:0007160]; cell-substrate adhesion [GO:0031589]; cell-substrate junction assembly [GO:0007044]; cellular response to extracellular stimulus [GO:0031668]; cellular response to organic cyclic compound [GO:0071407]; digestive tract development [GO:0048565]; ectodermal cell differentiation [GO:0010668]; extracellular matrix organization [GO:0030198]; filopodium assembly [GO:0046847]; hemidesmosome assembly [GO:0031581]; integrin-mediated signaling pathway [GO:0007229]; leukocyte migration [GO:0050900]; nail development [GO:0035878]; negative regulation of extrinsic apoptotic signaling pathway [GO:2001237]; positive regulation of apoptotic process [GO:0043065]; positive regulation of cell migration [GO:0030335]; positive regulation of cell-cell adhesion [GO:0022409]; positive regulation of cell-substrate adhesion [GO:0010811]; positive regulation of GTPase activity [GO:0043547]; positive regulation of phosphorylation [GO:0042327]; positive regulation of transcription by RNA polymerase II [GO:0045944]; renal system development [GO:0072001]; skin development [GO:0043588]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=8;  Comment=Additional isoforms seem to exist. There is a combination of at least four alternatively spliced domains, two extracellular (X1 and X2) and two cytoplasmic (A and B). So far detected are isoform Alpha-6X1A, isoform Alpha-6X1B and isoform Alpha-6X1X2A (minor). Experimental confirmation may be lacking for some isoforms.; Name=Alpha-6X1X2B; IsoId=P23229-1; Sequence=Displayed; Name=Alpha-6X1A; IsoId=P23229-2; Sequence=VSP_002724, VSP_002725; Name=Alpha-6X1B; IsoId=P23229-3; Sequence=VSP_002724; Name=Alpha-6X2A; IsoId=P23229-4; Sequence=VSP_002723, VSP_002725; Name=Alpha-6X2B; IsoId=P23229-5; Sequence=VSP_002723; Name=Alpha-6X1X2A; IsoId=P23229-6; Sequence=VSP_002725; Name=7; IsoId=P23229-7; Sequence=VSP_036406, VSP_002723, VSP_002725; Name=9; IsoId=P23229-9; Sequence=VSP_036407, VSP_002725; 

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:22314500}; Single-pass type I membrane protein {ECO:0000255}. Cell membrane {ECO:0000269|PubMed:22314500}; Lipid-anchor {ECO:0000269|PubMed:22314500}.


uniprotID: P83110
geneSymbol: HTRA3
pdb: 2P3W;4RI0;
length: 453
go: ENSG00000170801;
name:
Serine protease HTRA3 (EC 3.4.21.-) (High-temperature requirement factor A3) (Pregnancy-related serine protease)

sequence:

opentargets:
extracellular region [GO:0005576]; endopeptidase activity [GO:0004175]; insulin-like growth factor binding [GO:0005520]; serine-type endopeptidase activity [GO:0004252]; serine-type peptidase activity [GO:0008236]; negative regulation of BMP signaling pathway [GO:0030514]; negative regulation of transforming growth factor beta receptor signaling pathway [GO:0030512]; proteolysis [GO:0006508]; regulation of cell growth [GO:0001558]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; Synonyms=Long, pL; IsoId=P83110-1; Sequence=Displayed; Name=2; Synonyms=Short, pS; IsoId=P83110-2; Sequence=VSP_012570, VSP_012571; 

location:
SUBCELLULAR LOCATION: Secreted {ECO:0000269|PubMed:21321049}. Note=Secretion increased during decidualization of endometrial stromal cells.


uniprotID: Q9NQT8
geneSymbol: KIF13B
reactome: R-HSA-6811434;R-HSA-983189;
pdb: 2COW;3FM8;3GBJ;3MDB;
name: Kinesin-like protein KIF13B (Kinesin-like protein GAKIN)
length: 1826
go: ENSG00000197892;
snps: rs17526980
sequence:

opentargets:
axon [GO:0030424]; cytoplasm [GO:0005737]; cytosol [GO:0005829]; kinesin complex [GO:0005871]; microtubule [GO:0005874]; microvillus [GO:0005902]; paranode region of axon [GO:0033270]; 14-3-3 protein binding [GO:0071889]; ATP binding [GO:0005524]; ATPase activity [GO:0016887]; microtubule binding [GO:0008017]; microtubule motor activity [GO:0003777]; protein kinase binding [GO:0019901]; microtubule-based movement [GO:0007018]; protein targeting [GO:0006605]; regulation of axonogenesis [GO:0050770]; signal transduction [GO:0007165]; T cell activation [GO:0042110]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9NQT8-1; Sequence=Displayed; Name=2; IsoId=Q9NQT8-2; Sequence=VSP_056360, VSP_056361; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton {ECO:0000269|PubMed:20194617}. Cell projection, axon {ECO:0000269|PubMed:20194617}. Note=accumulates at the distal part of the microtubules in the tips of axons, but not of dendrites.


uniprotID: O75037
geneSymbol: KIF21B
reactome: R-HSA-6811434;R-HSA-983189;
name: Kinesin-like protein KIF21B
length: 1637
go: ENSG00000116852;
sequence:

opentargets:
cytoplasmic vesicle [GO:0031410]; dendrite [GO:0030425]; growth cone [GO:0030426]; kinesin complex [GO:0005871]; microtubule [GO:0005874]; ATP binding [GO:0005524]; ATPase activity [GO:0016887]; microtubule binding [GO:0008017]; microtubule motor activity [GO:0003777]; microtubule-based movement [GO:0007018]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=O75037-1; Sequence=Displayed; Name=2; IsoId=O75037-2; Sequence=VSP_016217; Note=No experimental confirmation available.; Name=3; IsoId=O75037-3; Sequence=VSP_016217, VSP_045333; Name=4; IsoId=O75037-4; Sequence=VSP_045333; 

location:
SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton {ECO:0000250|UniProtKB:Q9QXL1}. Cell projection, dendrite {ECO:0000250|UniProtKB:Q9QXL1}. Cell projection, growth cone {ECO:0000250|UniProtKB:Q9QXL1}. Cell projection, axon {ECO:0000250|UniProtKB:Q9QXL1}. Cytoplasmic vesicle {ECO:0000250|UniProtKB:F1M5N7}.


uniprotID: P19823
geneSymbol: ITIH2
reactome: R-HSA-381426;R-HSA-8957275;
length: 946
go: ENSG00000151655;
snps: rs7075296 rs7084817 rs3740217
location: SUBCELLULAR LOCATION: Secreted.
name:
Inter-alpha-trypsin inhibitor heavy chain H2 (ITI heavy chain H2) (ITI-HC2) (Inter-alpha-inhibitor heavy chain 2) (Inter-alpha-trypsin inhibitor complex component II) (Serum-derived hyaluronan-associated protein) (SHAP)

sequence:

opentargets:
blood microparticle [GO:0072562]; collagen-containing extracellular matrix [GO:0062023]; endoplasmic reticulum lumen [GO:0005788]; extracellular exosome [GO:0070062]; extracellular region [GO:0005576]; endopeptidase inhibitor activity [GO:0004866]; serine-type endopeptidase inhibitor activity [GO:0004867]; cellular protein metabolic process [GO:0044267]; hyaluronan metabolic process [GO:0030212]; post-translational protein modification [GO:0043687]


uniprotID: O95239
geneSymbol: KIF4A
reactome: R-HSA-2132295;R-HSA-437239;R-HSA-6811434;R-HSA-983189;
name: Chromosome-associated kinesin KIF4A (Chromokinesin-A)
length: 1232
go: ENSG00000090889;
snps: rs1199457 rs2297871 rs1046485
sequence:

opentargets:
axon cytoplasm [GO:1904115]; chromosome [GO:0005694]; cytoplasm [GO:0005737]; cytosol [GO:0005829]; intercellular bridge [GO:0045171]; kinesin complex [GO:0005871]; membrane [GO:0016020]; microtubule [GO:0005874]; midbody [GO:0030496]; nuclear matrix [GO:0016363]; nucleoplasm [GO:0005654]; spindle microtubule [GO:0005876]; ATP binding [GO:0005524]; ATPase activity [GO:0016887]; DNA binding [GO:0003677]; microtubule binding [GO:0008017]; microtubule motor activity [GO:0003777]; anterograde axonal transport [GO:0008089]; antigen processing and presentation of exogenous peptide antigen via MHC class II [GO:0019886]; microtubule-based movement [GO:0007018]; mitotic cytokinesis [GO:0000281]; mitotic spindle midzone assembly [GO:0051256]; mitotic spindle organization [GO:0007052]; organelle organization [GO:0006996]; retrograde vesicle-mediated transport, Golgi to ER [GO:0006890]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=O95239-1; Sequence=Displayed; Name=2; IsoId=O95239-2; Sequence=VSP_013375, VSP_013376; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Nucleus matrix. Cytoplasm, cytoskeleton, spindle. Midbody. Chromosome. Note=Not present in the nucleolus. In early mitosis, associated with the mitotic spindle, in anaphase, localized to the spindle midzone and, in telophase and cytokinesis, to the midbody. In late cytokinesis, found in the center of the midbody. Associated with chromosomes at all stages of mitosis.


uniprotID: P16144
geneSymbol: ITGB4
reactome: R-HSA-2022090;R-HSA-3000157;R-HSA-3000170;R-HSA-446107;
pdb: 1QG3;2YRZ;3F7P;3F7Q;3F7R;3FQ4;3FSO;3H6A;4Q58;4WTW;4WTX;
name: Integrin beta-4 (GP150) (CD antigen CD104)
length: 1822
go: ENSG00000132470;
drug: DB05122;
sequence:

opentargets:
cell junction [GO:0030054]; cell leading edge [GO:0031252]; cell surface [GO:0009986]; extracellular exosome [GO:0070062]; focal adhesion [GO:0005925]; hemidesmosome [GO:0030056]; integrin complex [GO:0008305]; plasma membrane [GO:0005886]; receptor complex [GO:0043235]; G protein-coupled receptor binding [GO:0001664]; integrin binding [GO:0005178]; amelogenesis [GO:0097186]; autophagy [GO:0006914]; cell adhesion [GO:0007155]; cell adhesion mediated by integrin [GO:0033627]; cell migration [GO:0016477]; cell motility [GO:0048870]; cell-matrix adhesion [GO:0007160]; digestive tract development [GO:0048565]; extracellular matrix organization [GO:0030198]; hemidesmosome assembly [GO:0031581]; integrin-mediated signaling pathway [GO:0007229]; mesodermal cell differentiation [GO:0048333]; nail development [GO:0035878]; renal system development [GO:0072001]; response to wounding [GO:0009611]; skin development [GO:0043588]

snps:
rs121912465 rs80338755 rs143114124 rs121912461 rs201494421 rs1476568580 rs1422797135 rs8079267 rs121912463 rs140819116 rs121912466 rs149284152 rs121912468 rs121912467 rs1051486 rs871443 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=5;  Name=Beta-4C; IsoId=P16144-1; Sequence=Displayed; Name=Beta-4A; IsoId=P16144-2; Sequence=VSP_002749; Name=Beta-4B; IsoId=P16144-3; Sequence=VSP_002749, VSP_002750; Name=Beta-4D; IsoId=P16144-4; Sequence=VSP_002749, VSP_002751; Name=Beta-4E; IsoId=P16144-5; Sequence=VSP_002747, VSP_002748; 

location:
SUBCELLULAR LOCATION: Cell membrane; Single-pass type I membrane protein. Cell membrane; Lipid-anchor. Cell junction, hemidesmosome. Note=Colocalizes with DST at the leading edge of migrating keratinocytes.


uniprotID: P11215
geneSymbol: ITGAM
reactome: R-HSA-166016;R-HSA-202733;R-HSA-216083;R-HSA-6785807;R-HSA-6798695;
pdb: 1A8X;1BHO;1BHQ;1IDN;1IDO;1JLM;1M1U;1MF7;1N9Z;1NA5;2LKE;2LKJ;3Q3G;3QA3;4M76;4XW2;
length: 1152
go: ENSG00000169896;
snps: rs1143679 rs1143680 rs1143683 rs1143678
name:
Integrin alpha-M (CD11 antigen-like family member B) (CR-3 alpha chain) (Cell surface glycoprotein MAC-1 subunit alpha) (Leukocyte adhesion receptor MO1) (Neutrophil adherence receptor) (CD antigen CD11b)

sequence:

opentargets:
cell surface [GO:0009986]; external side of plasma membrane [GO:0009897]; extracellular exosome [GO:0070062]; extracellular space [GO:0005615]; integrin alphaM-beta2 complex [GO:0034688]; integrin complex [GO:0008305]; plasma membrane [GO:0005886]; plasma membrane raft [GO:0044853]; specific granule membrane [GO:0035579]; tertiary granule membrane [GO:0070821]; complement component C3b binding [GO:0001851]; heat shock protein binding [GO:0031072]; metal ion binding [GO:0046872]; protein heterodimerization activity [GO:0046982]; amyloid-beta clearance [GO:0097242]; cell adhesion [GO:0007155]; cell surface receptor signaling pathway involved in cell-cell signaling [GO:1905114]; cell-cell adhesion via plasma-membrane adhesion molecules [GO:0098742]; complement-mediated synapse pruning [GO:0150062]; cytokine-mediated signaling pathway [GO:0019221]; ectodermal cell differentiation [GO:0010668]; extracellular matrix organization [GO:0030198]; innate immune response [GO:0045087]; integrin-mediated signaling pathway [GO:0007229]; leukocyte migration [GO:0050900]; microglial cell activation [GO:0001774]; negative regulation of dopamine metabolic process [GO:0045963]; neutrophil degranulation [GO:0043312]; phagocytosis, engulfment [GO:0006911]; positive regulation of microglial cell activation [GO:1903980]; positive regulation of neuron death [GO:1901216]; positive regulation of neutrophil degranulation [GO:0043315]; positive regulation of phagocytosis, engulfment [GO:0060100]; positive regulation of prostaglandin-E synthase activity [GO:2000363]; positive regulation of protein targeting to membrane [GO:0090314]; positive regulation of superoxide anion generation [GO:0032930]; toll-like receptor 4 signaling pathway [GO:0034142]; vertebrate eye-specific patterning [GO:0150064]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P11215-1; Sequence=Displayed; Name=2; IsoId=P11215-2; Sequence=VSP_047365; 

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:21193407}; Single-pass type I membrane protein {ECO:0000305}. Membrane raft {ECO:0000269|PubMed:21193407}; Single-pass type I membrane protein {ECO:0000305}.


uniprotID: Q6PHW0
geneSymbol: IYD
reactome: R-HSA-209968;
pdb: 4TTB;4TTC;5YAK;
name: Iodotyrosine deiodinase 1 (IYD-1) (EC 1.21.1.1) (Iodotyrosine dehalogenase 1)
length: 289
go: ENSG00000009765;
snps: rs121918138 rs121918139 rs17854906 rs36063028
sequence:

opentargets:
cytoplasmic vesicle membrane [GO:0030659]; integral component of plasma membrane [GO:0005887]; nucleoplasm [GO:0005654]; plasma membrane [GO:0005886]; FMN binding [GO:0010181]; iodide peroxidase activity [GO:0004447]; oxidoreductase activity [GO:0016491]; oxidation-reduction process [GO:0055114]; thyroid hormone generation [GO:0006590]; thyroid hormone metabolic process [GO:0042403]; tyrosine metabolic process [GO:0006570]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=6;  Name=1; IsoId=Q6PHW0-1; Sequence=Displayed; Name=3; Synonyms=E; IsoId=Q6PHW0-3; Sequence=VSP_017809, VSP_017810; Name=4; Synonyms=B; IsoId=Q6PHW0-4; Sequence=VSP_017805; Name=5; Synonyms=C; IsoId=Q6PHW0-5; Sequence=VSP_017806, VSP_017813; Name=6; Synonyms=D; IsoId=Q6PHW0-6; Sequence=VSP_017807, VSP_017812; Name=7; Synonyms=F; IsoId=Q6PHW0-7; Sequence=VSP_017802, VSP_017803, VSP_017809, VSP_017810; 

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:15289438}; Single-pass membrane protein {ECO:0000269|PubMed:15289438}. Cytoplasmic vesicle membrane {ECO:0000269|PubMed:15289438}.


uniprotID: Q92613
geneSymbol: JADE3
reactome: R-HSA-3214847;
name: Protein Jade-3 (Jade family PHD finger protein 3) (PHD finger protein 16)
length: 823
go: ENSG00000102221;
sequence:

opentargets:
histone acetyltransferase complex [GO:0000123]; metal ion binding [GO:0046872]; histone H3 acetylation [GO:0043966]; histone H4-K12 acetylation [GO:0043983]; histone H4-K5 acetylation [GO:0043981]; histone H4-K8 acetylation [GO:0043982]


uniprotID: P78504
geneSymbol: JAG1
pdb: 2KB9;2VJ2;4CBZ;4CC0;4CC1;4XI7;5BO1;
name: Protein jagged-1 (Jagged1) (hJ1) (CD antigen CD339)
length: 1218
go: ENSG00000101384;
location: SUBCELLULAR LOCATION: Membrane; Single-pass type I membrane protein.
reactome:
R-HSA-2122948;R-HSA-2644606;R-HSA-2660826;R-HSA-2691232;R-HSA-2894862;R-HSA-2979096;R-HSA-8941856;R-HSA-9013507;R-HSA-9013700;

sequence:

opentargets:
adherens junction [GO:0005912]; apical plasma membrane [GO:0016324]; extracellular region [GO:0005576]; integral component of plasma membrane [GO:0005887]; membrane [GO:0016020]; plasma membrane [GO:0005886]; calcium ion binding [GO:0005509]; growth factor activity [GO:0008083]; Notch binding [GO:0005112]; phospholipid binding [GO:0005543]; structural molecule activity [GO:0005198]; angiogenesis [GO:0001525]; aorta morphogenesis [GO:0035909]; aortic valve morphogenesis [GO:0003180]; blood vessel remodeling [GO:0001974]; cardiac neural crest cell development involved in outflow tract morphogenesis [GO:0061309]; cardiac right ventricle morphogenesis [GO:0003215]; cardiac septum morphogenesis [GO:0060411]; cell fate determination [GO:0001709]; ciliary body morphogenesis [GO:0061073]; distal tubule development [GO:0072017]; endocardial cushion cell development [GO:0061444]; endothelial cell differentiation [GO:0045446]; glomerular visceral epithelial cell development [GO:0072015]; hemopoiesis [GO:0030097]; inner ear auditory receptor cell differentiation [GO:0042491]; keratinocyte differentiation [GO:0030216]; loop of Henle development [GO:0072070]; morphogenesis of an epithelial sheet [GO:0002011]; myoblast differentiation [GO:0045445]; negative regulation of cell migration [GO:0030336]; negative regulation of cell-cell adhesion [GO:0022408]; negative regulation of cell-matrix adhesion [GO:0001953]; negative regulation of endothelial cell differentiation [GO:0045602]; negative regulation of fat cell differentiation [GO:0045599]; negative regulation of neuron differentiation [GO:0045665]; negative regulation of stem cell differentiation [GO:2000737]; nephron development [GO:0072006]; nervous system development [GO:0007399]; neuronal stem cell population maintenance [GO:0097150]; Notch signaling involved in heart development [GO:0061314]; Notch signaling pathway [GO:0007219]; positive regulation of cardiac epithelial to mesenchymal transition [GO:0062043]; positive regulation of myeloid cell differentiation [GO:0045639]; positive regulation of Notch signaling pathway [GO:0045747]; positive regulation of osteoblast differentiation [GO:0045669]; positive regulation of transcription by RNA polymerase II [GO:0045944]; pulmonary artery morphogenesis [GO:0061156]; pulmonary valve morphogenesis [GO:0003184]; regulation of cell proliferation [GO:0042127]; response to muramyl dipeptide [GO:0032495]; T cell mediated immunity [GO:0002456]

snps:
rs876661123 rs121918352 rs183974372 rs930247415 rs1032920906 rs6040067 rs121918350 rs121918351 rs121918353 rs797044956 rs28939668 rs863223650 rs527236046 rs566563238 rs35761929 rs149419694 rs876661122 rs145895196 rs138007561 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P78504-1; Sequence=Displayed; Name=2; IsoId=P78504-2; Sequence=VSP_056532; Note=No experimental confirmation available.; 


uniprotID: Q6UXV1
geneSymbol: IZUMO2
reactome: R-HSA-1300652;
name: Izumo sperm-egg fusion protein 2
length: 221
go: ENSG00000161652;
opentargets: integral component of membrane [GO:0016021]
snps: rs3745498
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Single-pass type I membrane protein {ECO:0000305}.
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q6UXV1-1; Sequence=Displayed; Name=2; IsoId=Q6UXV1-2; Sequence=VSP_027043; Note=No experimental confirmation available.; 


uniprotID: Q8WYK2
geneSymbol: JDP2
name: Jun dimerization protein 2
length: 163
go: ENSG00000140044;
drug: DB00852;
snps: rs3625
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000305}.
sequence:
MMPGQIPDPSVTTGSLPGLGPLTGLPSSALTVEELKYADIRNLGAMIAPLHFLEVKLGKRPQPVKSELDEEEERRKRRREKNKVAAARCRNKKKERTEFLQRESERLELMNAELKTQIEELKQERQQLILMLNRHRPTCIVRTDSVKTPESEGNPLLEQLEKK

opentargets:
nucleus [GO:0005634]; chromatin binding [GO:0003682]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; protein heterodimerization activity [GO:0046982]; proximal promoter DNA-binding transcription repressor activity, RNA polymerase II-specific [GO:0001078]; RNA polymerase II proximal promoter sequence-specific DNA binding [GO:0000978]; negative regulation of fat cell differentiation [GO:0045599]; positive regulation of histone deacetylation [GO:0031065]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q8WYK2-1; Sequence=Displayed; Name=2; IsoId=Q8WYK2-2; Sequence=VSP_047128; Note=Gene prediction based on EST data.; 


uniprotID: Q13387
geneSymbol: MAPK8IP2
length: 824
go: ENSG00000008735;
snps: rs1140555
name:
C-Jun-amino-terminal kinase-interacting protein 2 (JIP-2) (JNK-interacting protein 2) (Islet-brain-2) (IB-2) (JNK MAP kinase scaffold protein 2) (Mitogen-activated protein kinase 8-interacting protein 2)

sequence:

opentargets:
cytoplasm [GO:0005737]; intracellular [GO:0005622]; neuronal cell body [GO:0043025]; postsynaptic density [GO:0014069]; protein-containing complex [GO:0032991]; amyloid-beta binding [GO:0001540]; kinesin binding [GO:0019894]; MAP-kinase scaffold activity [GO:0005078]; protein kinase activator activity [GO:0030295]; protein kinase binding [GO:0019901]; protein-containing complex binding [GO:0044877]; structural molecule activity [GO:0005198]; behavioral fear response [GO:0001662]; dendrite morphogenesis [GO:0048813]; excitatory postsynaptic potential [GO:0060079]; JNK cascade [GO:0007254]; MAPK cascade [GO:0000165]; mating behavior [GO:0007617]; negative regulation of apoptotic signaling pathway [GO:2001234]; nonassociative learning [GO:0046958]; positive regulation of stress-activated MAPK cascade [GO:0032874]; regulation of AMPA receptor activity [GO:2000311]; regulation of JNK cascade [GO:0046328]; regulation of NMDA receptor activity [GO:2000310]; regulation of signaling receptor activity [GO:0010469]; regulation of synaptic transmission, glutamatergic [GO:0051966]; signal complex assembly [GO:0007172]; social behavior [GO:0035176]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Comment=Experimental confirmation may be lacking for some isoforms.; Name=1; IsoId=Q13387-1; Sequence=Displayed; Name=2; IsoId=Q13387-2; Sequence=VSP_002770; Name=3; IsoId=Q13387-3; Sequence=VSP_002770, VSP_002772, VSP_002773, VSP_002774; Note=Might be artifactual as it is only predicted from a genomic sequence.; Name=4; IsoId=Q13387-4; Sequence=VSP_002771; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:10490659}. Note=Accumulates in cell surface projections. {ECO:0000269|PubMed:10490659}.


uniprotID: P35527
geneSymbol: KRT9
reactome: R-HSA-6805567;R-HSA-6809371;
name: Keratin, type I cytoskeletal 9 (Cytokeratin-9) (CK-9) (Keratin-9) (K9)
length: 623
go: ENSG00000171403;
sequence:

opentargets:
cytosol [GO:0005829]; extracellular exosome [GO:0070062]; extracellular space [GO:0005615]; intermediate filament [GO:0005882]; membrane [GO:0016020]; nucleus [GO:0005634]; structural constituent of cytoskeleton [GO:0005200]; cornification [GO:0070268]; epidermis development [GO:0008544]; intermediate filament organization [GO:0045109]; keratinization [GO:0031424]; skin development [GO:0043588]; spermatogenesis [GO:0007283]

snps:
rs59510579 rs59510579 rs59510579 rs58597584 rs28940896 rs28940896 rs59296273 rs56707768 rs57536312 rs56707768 rs59296273 rs57758262 rs57758262 rs59616921 rs61157095 rs57019720 rs59878153 rs77688767 rs267607420 rs58120120 


uniprotID: Q96S86
geneSymbol: HAPLN3
name: Hyaluronan and proteoglycan link protein 3
length: 360
go: ENSG00000140511;
drug: DB08818;
location: SUBCELLULAR LOCATION: Secreted, extracellular space, extracellular matrix {ECO:0000250}.
sequence:

opentargets:
extracellular matrix [GO:0031012]; extracellular space [GO:0005615]; hyaluronic acid binding [GO:0005540]; cell adhesion [GO:0007155]; central nervous system development [GO:0007417]


uniprotID: P28290
geneSymbol: ITPRID2
length: 1259
go: ENSG00000138434;
snps: rs16867510 rs13419020 rs17647806 rs2303554
name:
Protein ITPRID2 (Cleavage signal-1 protein) (CS-1) (ITPR-interacting domain-containing protein 2) (Ki-ras-induced actin-interacting protein) (Sperm-specific antigen 2)

sequence:

opentargets:
cytosol [GO:0005829]; nucleus [GO:0005634]; plasma membrane [GO:0005886]; actin filament binding [GO:0051015]; signaling receptor binding [GO:0005102]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=P28290-1; Sequence=Displayed; Name=2; IsoId=P28290-2; Sequence=VSP_023865; Name=3; IsoId=P28290-3; Sequence=VSP_023866, VSP_023867; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:14673706}. Note=Located near the plasma membrane. Associated with actin filaments. May also exist as a membrane-bound form with extracellular regions.


uniprotID: P12035
geneSymbol: KRT3
reactome: R-HSA-6805567;R-HSA-6809371;
length: 628
go: ENSG00000186442;
snps: rs28721426 rs3887954 rs60410063 rs57872071
name:
Keratin, type II cytoskeletal 3 (65 kDa cytokeratin) (Cytokeratin-3) (CK-3) (Keratin-3) (K3) (Type-II keratin Kb3)

sequence:

opentargets:
cytosol [GO:0005829]; extracellular exosome [GO:0070062]; intermediate filament [GO:0005882]; keratin filament [GO:0045095]; structural molecule activity [GO:0005198]; cornification [GO:0070268]; epithelial cell differentiation [GO:0030855]; intermediate filament cytoskeleton organization [GO:0045104]; keratinization [GO:0031424]


uniprotID: P35900
geneSymbol: KRT20
reactome: R-HSA-6805567;R-HSA-6809371;
name: Keratin, type I cytoskeletal 20 (Cytokeratin-20) (CK-20) (Keratin-20) (K20) (Protein IT)
length: 424
go: ENSG00000171431;
snps: rs7212483
location: SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:10973561, ECO:0000269|PubMed:1696264}.
sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; intermediate filament [GO:0005882]; structural constituent of cytoskeleton [GO:0005200]; apoptotic process [GO:0006915]; cellular response to starvation [GO:0009267]; cornification [GO:0070268]; intermediate filament organization [GO:0045109]; keratinization [GO:0031424]; regulation of protein secretion [GO:0050708]


uniprotID: Q9H910
geneSymbol: JPT2
length: 190
go: ENSG00000206053;
opentargets: cytosol [GO:0005829]; nucleus [GO:0005634]; plasma membrane [GO:0005886]
name:
Jupiter microtubule associated homolog 2 (Hematological and neurological expressed 1-like protein) (HN1-like protein)

sequence:
MFQVPDSEGGRAGSRAMKPPGGESSNLFGSPEEATPSSRPNRMASNIFGPTEEPQNIPKRTNPPGGKGSGIFDESTPVQTRQHLNPPGGKTSDIFGSPVTATSRLAHPNKPKDHVFLCEGEEPKSDLKAARSIPAGAEPGEKGSARKAGPAKEQEPMPTVDSHEPRLGPRPRSHNKVLNPPGGKSSISFY

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; Synonyms=HN1LA; IsoId=Q9H910-1; Sequence=Displayed; Name=2; Synonyms=HN1LB, HN1LC; IsoId=Q9H910-2; Sequence=VSP_014706; Name=3; IsoId=Q9H910-3; Sequence=VSP_057423; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:15094197}. Nucleus {ECO:0000269|PubMed:15094197}.


uniprotID: O60268
geneSymbol: KIAA0513
name: Uncharacterized protein KIAA0513
length: 411
go: ENSG00000135709;
opentargets: cytoplasm [GO:0005737]
snps: rs4783121
location: SUBCELLULAR LOCATION: Cytoplasm {ECO:0000305|PubMed:17010949}.
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=O60268-1; Sequence=Displayed; Name=2; IsoId=O60268-2; Sequence=VSP_011551; Note=No experimental confirmation available.; Name=3; IsoId=O60268-3; Sequence=VSP_054680; Note=No experimental confirmation available.; 


uniprotID: P19012
geneSymbol: KRT15
reactome: R-HSA-6805567;R-HSA-6809371;
name: Keratin, type I cytoskeletal 15 (Cytokeratin-15) (CK-15) (Keratin-15) (K15)
length: 456
go: ENSG00000171346;
snps: rs1050784 rs2305556 rs897420
sequence:

opentargets:
cytosol [GO:0005829]; extracellular exosome [GO:0070062]; intermediate filament [GO:0005882]; nucleus [GO:0005634]; scaffold protein binding [GO:0097110]; structural constituent of cytoskeleton [GO:0005200]; cornification [GO:0070268]; epidermis development [GO:0008544]; keratinization [GO:0031424]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P19012-1; Sequence=Displayed; Name=2; IsoId=P19012-2; Sequence=VSP_056507, VSP_056508, VSP_056509; Note=No experimental confirmation available.; 


uniprotID: Q0VF49
geneSymbol: KIAA2012
name: Uncharacterized protein KIAA2012
length: 1180
go: ENSG00000182329;
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q0VF49-1; Sequence=Displayed; Name=2; IsoId=Q0VF49-2; Sequence=VSP_057140, VSP_057141; Note=No experimental confirmation available. {ECO:0000305}; 


uniprotID: Q68EN5
geneSymbol: KIAA0895L
name: Uncharacterized protein KIAA0895-like
length: 471
go: ENSG00000196123;
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q68EN5-1; Sequence=Displayed; Name=2; IsoId=Q68EN5-2; Sequence=VSP_031690, VSP_031691; Name=3; IsoId=Q68EN5-3; Sequence=VSP_031689; 


uniprotID: Q04695
geneSymbol: KRT17
reactome: R-HSA-6805567;R-HSA-6809371;
name: Keratin, type I cytoskeletal 17 (39.1) (Cytokeratin-17) (CK-17) (Keratin-17) (K17)
length: 432
go: ENSG00000128422;
location: SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250|UniProtKB:Q9QWL7}.
sequence:

opentargets:
cytosol [GO:0005829]; extracellular exosome [GO:0070062]; intermediate filament [GO:0005882]; intermediate filament cytoskeleton [GO:0045111]; MHC class II protein binding [GO:0042289]; MHC class II receptor activity [GO:0032395]; structural constituent of cytoskeleton [GO:0005200]; cornification [GO:0070268]; epidermis development [GO:0008544]; hair follicle morphogenesis [GO:0031069]; keratinization [GO:0031424]; signal transduction [GO:0007165]

snps:
rs28928898 rs28928898 rs28928896 rs28928896 rs59151893 rs58730926 rs28928897 rs28928897 rs28928899 rs28928899 rs28933088 rs28933089 rs59977263 rs267607412 rs56690581 


uniprotID: Q96PQ7
geneSymbol: KLHL5
reactome: R-HSA-8951664;R-HSA-983168;
name: Kelch-like protein 5
length: 755
go: ENSG00000109790;
snps: rs2711941 rs34646863
location: SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton.
sequence:

opentargets:
cytoplasm [GO:0005737]; cytoskeleton [GO:0005856]; cytosol [GO:0005829]; actin binding [GO:0003779]; post-translational protein modification [GO:0043687]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=6;  Name=1; Synonyms=KLHL5a; IsoId=Q96PQ7-1; Sequence=Displayed; Name=2; IsoId=Q96PQ7-2; Sequence=VSP_008619; Note=May be due to intron retention. No experimental confirmation available.; Name=3; IsoId=Q96PQ7-3; Sequence=VSP_008620; Note=No experimental confirmation available.; Name=4; Synonyms=KLHL5b; IsoId=Q96PQ7-4; Sequence=VSP_045227; Note=Ubiquitous expression, differentially expressed in kidney and pancreas relatively to isoform 1.; Name=5; IsoId=Q96PQ7-5; Sequence=VSP_047111; Name=6; IsoId=Q96PQ7-6; Sequence=VSP_047112; 


uniprotID: Q5JT82
geneSymbol: KLF17
name: Krueppel-like factor 17 (Zinc finger protein 393)
length: 389
go: ENSG00000171872;
snps: rs11210969 rs2429051 rs6656945 rs2485652
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000305}.
sequence:

opentargets:
nucleus [GO:0005634]; DNA-binding transcription factor activity [GO:0003700]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; metal ion binding [GO:0046872]; proximal promoter DNA-binding transcription repressor activity, RNA polymerase II-specific [GO:0001078]; transcription regulatory region DNA binding [GO:0044212]; regulation of transcription by RNA polymerase II [GO:0006357]


uniprotID: P07288
geneSymbol: KLK3
reactome: R-HSA-381426;R-HSA-5625886;
pdb: 1PFA;2PSA;2ZCH;2ZCK;2ZCL;3QUM;
length: 261
go: ENSG00000142515;
snps: rs2271092 rs2003783 rs17632542
location: SUBCELLULAR LOCATION: Secreted.
name:
Prostate-specific antigen (PSA) (EC 3.4.21.77) (Gamma-seminoprotein) (Seminin) (Kallikrein-3) (P-30 antigen) (Semenogelase)

sequence:

opentargets:
extracellular exosome [GO:0070062]; extracellular region [GO:0005576]; extracellular space [GO:0005615]; nucleus [GO:0005634]; protein-containing complex [GO:0032991]; secretory granule [GO:0030141]; endopeptidase activity [GO:0004175]; hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in linear amides [GO:0016811]; serine-type endopeptidase activity [GO:0004252]; serine-type peptidase activity [GO:0008236]; antibacterial peptide production [GO:0002778]; cellular protein metabolic process [GO:0044267]; negative regulation of angiogenesis [GO:0016525]; proteolysis [GO:0006508]; regulation of systemic arterial blood pressure [GO:0003073]; zymogen activation [GO:0031638]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=5;  Name=1; IsoId=P07288-1; Sequence=Displayed; Name=2; IsoId=P07288-2; Sequence=VSP_045786; Note=No experimental confirmation available.; Name=3; IsoId=P07288-3; Sequence=VSP_046169, VSP_046171; Note=No experimental confirmation available.; Name=4; IsoId=P07288-4; Sequence=VSP_046169, VSP_046170; Note=No experimental confirmation available.; Name=5; IsoId=P07288-5; Sequence=VSP_047643; 


uniprotID: O43813
geneSymbol: LANCL1
pdb: 3E6U;3E73;
name: LanC-like protein 1 (40 kDa erythrocyte membrane protein) (p40)
length: 399
go: ENSG00000115365;
sequence:

opentargets:
cytoplasm [GO:0005737]; integral component of plasma membrane [GO:0005887]; plasma membrane [GO:0005886]; catalytic activity [GO:0003824]; G protein-coupled receptor activity [GO:0004930]; glutathione binding [GO:0043295]; low-density lipoprotein particle receptor binding [GO:0050750]; SH3 domain binding [GO:0017124]; zinc ion binding [GO:0008270]; G protein-coupled receptor signaling pathway [GO:0007186]

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:15811525}. Cell membrane {ECO:0000269|PubMed:10944443, ECO:0000269|PubMed:16979580}; Peripheral membrane protein {ECO:0000269|PubMed:10944443}.


uniprotID: Q9NZS2
geneSymbol: KLRF1
reactome: R-HSA-198933;
length: 232
go: ENSG00000150045;
snps: rs2232548
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Single-pass type II membrane protein {ECO:0000305}.
name:
Killer cell lectin-like receptor subfamily F member 1 (Lectin-like receptor F1) (Activating coreceptor NKp80) (C-type lectin domain family 5 member C)

sequence:

opentargets:
integral component of plasma membrane [GO:0005887]; membrane [GO:0016020]; plasma membrane [GO:0005886]; carbohydrate binding [GO:0030246]; MHC class I receptor activity [GO:0032393]; transmembrane signaling receptor activity [GO:0004888]; cell surface receptor signaling pathway [GO:0007166]; regulation of immune response [GO:0050776]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=Q9NZS2-1; Sequence=Displayed; Name=2; Synonyms=KLRF1-s1; IsoId=Q9NZS2-2; Sequence=VSP_010391; Name=3; Synonyms=KLRF1-s3; IsoId=Q9NZS2-3; Sequence=VSP_010390, VSP_010392; Name=4; Synonyms=KLRF1-s2; IsoId=Q9NZS2-4; Sequence=VSP_010393, VSP_010394; Note=May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.; 


uniprotID: Q93100
geneSymbol: PHKB
reactome: R-HSA-70221;
name: Phosphorylase b kinase regulatory subunit beta (Phosphorylase kinase subunit beta)
length: 1093
go: ENSG00000102893;
snps: rs121918022 rs34667348 rs16945474 rs9934849 rs150902092
sequence:

opentargets:
cytosol [GO:0005829]; phosphorylase kinase complex [GO:0005964]; plasma membrane [GO:0005886]; calmodulin binding [GO:0005516]; phosphorylase kinase activity [GO:0004689]; generation of precursor metabolites and energy [GO:0006091]; glycogen metabolic process [GO:0005977]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=Q93100-1; Sequence=Displayed; Name=2; IsoId=Q93100-2; Sequence=VSP_012445; Name=3; IsoId=Q93100-3; Sequence=VSP_012446; Name=4; IsoId=Q93100-4; Sequence=VSP_012445, VSP_012446; 


uniprotID: Q96NJ5
geneSymbol: KLHL32
name: Kelch-like protein 32 (BTB and kelch domain-containing protein 5)
length: 620
go: ENSG00000186231;
snps: rs35143662 rs2294763 rs12662753
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q96NJ5-1; Sequence=Displayed; Name=2; IsoId=Q96NJ5-2; Sequence=VSP_054888; Note=No experimental confirmation available.; Name=3; IsoId=Q96NJ5-3; Sequence=VSP_054888, VSP_054889; Note=No experimental confirmation available.; 


uniprotID: A6NCF5
geneSymbol: KLHL33
name: Kelch-like protein 33
length: 533
snps: rs12587478 rs17242648 rs1953225 rs7145318
sequence:


uniprotID: Q8N239
geneSymbol: KLHL34
name: Kelch-like protein 34
length: 644
go: ENSG00000185915;
opentargets: extracellular space [GO:0005615]
sequence:


uniprotID: O15550
geneSymbol: KDM6A
reactome: R-HSA-3214842;R-HSA-5617472;
pdb: 3AVR;3AVS;
length: 1401
go: ENSG00000147050;
snps: rs6529 rs6530 rs34922269 rs2230018
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000305}.
name:
Lysine-specific demethylase 6A (EC 1.14.11.-) (Histone demethylase UTX) (Ubiquitously-transcribed TPR protein on the X chromosome) (Ubiquitously-transcribed X chromosome tetratricopeptide repeat protein)

sequence:

opentargets:
histone methyltransferase complex [GO:0035097]; MLL3/4 complex [GO:0044666]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; chromatin binding [GO:0003682]; chromatin DNA binding [GO:0031490]; dioxygenase activity [GO:0051213]; histone demethylase activity [GO:0032452]; histone demethylase activity (H3-K27 specific) [GO:0071558]; identical protein binding [GO:0042802]; metal ion binding [GO:0046872]; RNA polymerase II proximal promoter sequence-specific DNA binding [GO:0000978]; sequence-specific DNA binding [GO:0043565]; canonical Wnt signaling pathway [GO:0060070]; cardiovascular system development [GO:0072358]; chromatin remodeling [GO:0006338]; heart morphogenesis [GO:0003007]; histone H3-K4 methylation [GO:0051568]; in utero embryonic development [GO:0001701]; mesodermal cell differentiation [GO:0048333]; multicellular organism growth [GO:0035264]; neural tube closure [GO:0001843]; notochord morphogenesis [GO:0048570]; positive regulation of gene expression [GO:0010628]; respiratory system process [GO:0003016]; somite rostral/caudal axis specification [GO:0032525]


uniprotID: Q9UKR3
geneSymbol: KLK13
reactome: R-HSA-381426;R-HSA-6809371;
name: Kallikrein-13 (EC 3.4.21.-) (Kallikrein-like protein 4) (KLK-L4)
length: 277
go: ENSG00000167759;
snps: rs34089525
location: SUBCELLULAR LOCATION: Secreted {ECO:0000305}.
sequence:

opentargets:
cytoplasm [GO:0005737]; extracellular region [GO:0005576]; extracellular space [GO:0005615]; secretory granule [GO:0030141]; hydrolase activity [GO:0016787]; serine-type endopeptidase activity [GO:0004252]; cornification [GO:0070268]; protein processing [GO:0016485]; proteolysis [GO:0006508]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9UKR3-1; Sequence=Displayed; Name=2; IsoId=Q9UKR3-2; Sequence=VSP_056631; 


uniprotID: Q9BYQ4
geneSymbol: KRTAP9-2
reactome: R-HSA-6805567;
length: 174
snps: rs9903833 rs9902235
name:
Keratin-associated protein 9-2 (Keratin-associated protein 9.2) (Ultrahigh sulfur keratin-associated protein 9.2)

sequence:
MTHCCSPCCQPTCCRTTCCRTTCWKPTTVTTCSSTPCCQPACCVSSCCQPCCRPTCCQNTCCRTTCCQPTCVTSCCQPSCCSTPCCQPTCCGSSCCGQTSCGSSCGQSSSCAPVYCRRTCYYPTTVCLPGCLNQSCGSNCCQPCCRPACCETTCCRTTCFQPTCVSSCCQPSCC


uniprotID: Q05513
geneSymbol: PRKCZ
reactome: R-HSA-114604;R-HSA-2173791;R-HSA-5218921;
name: Protein kinase C zeta type (EC 2.7.11.13) (nPKC-zeta)
length: 592
go: ENSG00000067606;
drug: DB00675;
snps: rs35271800 rs56017162 rs376894109
sequence:

opentargets:
apical cortex [GO:0045179]; apical plasma membrane [GO:0016324]; axon hillock [GO:0043203]; bicellular tight junction [GO:0005923]; cell junction [GO:0030054]; cell leading edge [GO:0031252]; cell-cell junction [GO:0005911]; cytoplasm [GO:0005737]; cytosol [GO:0005829]; endosome [GO:0005768]; extracellular exosome [GO:0070062]; glutamatergic synapse [GO:0098978]; membrane [GO:0016020]; membrane raft [GO:0045121]; microtubule organizing center [GO:0005815]; myelin sheath abaxonal region [GO:0035748]; nuclear envelope [GO:0005635]; nuclear matrix [GO:0016363]; perinuclear region of cytoplasm [GO:0048471]; plasma membrane [GO:0005886]; postsynaptic density [GO:0014069]; protein-containing complex [GO:0032991]; Schaffer collateral - CA1 synapse [GO:0098685]; stress fiber [GO:0001725]; vesicle [GO:0031982]; 14-3-3 protein binding [GO:0071889]; ATP binding [GO:0005524]; insulin receptor substrate binding [GO:0043560]; metal ion binding [GO:0046872]; phospholipase binding [GO:0043274]; potassium channel regulator activity [GO:0015459]; protein domain specific binding [GO:0019904]; protein kinase activity [GO:0004672]; protein kinase binding [GO:0019901]; protein kinase C activity [GO:0004697]; protein serine/threonine kinase activity [GO:0004674]; activation of phospholipase D activity [GO:0031584]; activation of protein kinase B activity [GO:0032148]; cell migration [GO:0016477]; cellular response to insulin stimulus [GO:0032869]; establishment of cell polarity [GO:0030010]; inflammatory response [GO:0006954]; intracellular signal transduction [GO:0035556]; long-term memory [GO:0007616]; long-term synaptic potentiation [GO:0060291]; membrane depolarization [GO:0051899]; membrane hyperpolarization [GO:0060081]; microtubule cytoskeleton organization [GO:0000226]; negative regulation of apoptotic process [GO:0043066]; negative regulation of hydrolase activity [GO:0051346]; negative regulation of insulin receptor signaling pathway [GO:0046627]; negative regulation of peptidyl-tyrosine phosphorylation [GO:0050732]; negative regulation of protein complex assembly [GO:0031333]; neuron projection extension [GO:1990138]; peptidyl-serine phosphorylation [GO:0018105]; positive regulation of cell proliferation [GO:0008284]; positive regulation of cell-matrix adhesion [GO:0001954]; positive regulation of ERK1 and ERK2 cascade [GO:0070374]; positive regulation of excitatory postsynaptic potential [GO:2000463]; positive regulation of insulin receptor signaling pathway [GO:0046628]; positive regulation of interleukin-10 secretion [GO:2001181]; positive regulation of interleukin-13 secretion [GO:2000667]; positive regulation of interleukin-4 production [GO:0032753]; positive regulation of interleukin-5 secretion [GO:2000664]; positive regulation of NF-kappaB transcription factor activity [GO:0051092]; positive regulation of T-helper 2 cell cytokine production [GO:2000553]; positive regulation of T-helper 2 cell differentiation [GO:0045630]; protein heterooligomerization [GO:0051291]; protein kinase C signaling [GO:0070528]; protein localization to plasma membrane [GO:0072659]; protein phosphorylation [GO:0006468]; regulation of neurotransmitter receptor localization to postsynaptic specialization membrane [GO:0098696]; signal transduction [GO:0007165]; transforming growth factor beta receptor signaling pathway [GO:0007179]; vesicle transport along microtubule [GO:0047496]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative promoter usage, Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q05513-1; Sequence=Displayed; Name=2; Synonyms=PKMzeta {ECO:0000250|UniProtKB:P09217}; IsoId=Q05513-2; Sequence=VSP_041904; Note=Produced by alternative promoter usage. {ECO:0000250|UniProtKB:P09217}; Name=3; IsoId=Q05513-3; Sequence=VSP_046347; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:17313651, ECO:0000269|PubMed:9566925}. Endosome {ECO:0000269|PubMed:9566925}. Cell junction {ECO:0000269|PubMed:7597083}. Membrane {ECO:0000250|UniProtKB:P09217}; Peripheral membrane protein {ECO:0000305}. Note=In the retina, localizes in the terminals of the rod bipolar cells (By similarity). Associates with endosomes (PubMed:9566925). Presence of KRIT1, CDH5 and RAP1B is required for its localization to the cell junction (PubMed:7597083). Colocalizes with VAMP2 and WDFY2 in intracellular vesicles (PubMed:17313651). Transiently translocates to the membrane of CA1 hippocampal cells in response to the induction of long term potentiation (By similarity). {ECO:0000250|UniProtKB:P09217, ECO:0000269|PubMed:17313651, ECO:0000269|PubMed:7597083, ECO:0000269|PubMed:9566925}.; SUBCELLULAR LOCATION: Isoform 2: Cytoplasm {ECO:0000250|UniProtKB:P09217}.


uniprotID: Q5T749
geneSymbol: KPRP
name: Keratinocyte proline-rich protein (hKPRP)
length: 579
go: ENSG00000203786;
opentargets: cytoplasm [GO:0005737]; extracellular exosome [GO:0070062]
snps: rs17612167 rs944683 rs16834457 rs16834461 rs4329520 rs6703294
location: SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250}.
sequence:


uniprotID: O15054
geneSymbol: KDM6B
reactome: R-HSA-2559580;R-HSA-3214842;
pdb: 2XUE;2XXZ;4ASK;5FP3;5OY3;
length: 1643
go: ENSG00000132510;
snps: rs60738318 rs2270516
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000305|PubMed:17825402}.
name:
Lysine-specific demethylase 6B (EC 1.14.11.-) (JmjC domain-containing protein 3) (Jumonji domain-containing protein 3) (Lysine demethylase 6B)

sequence:

opentargets:
MLL3/4 complex [GO:0044666]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; beta-catenin binding [GO:0008013]; chromatin binding [GO:0003682]; chromatin DNA binding [GO:0031490]; dioxygenase activity [GO:0051213]; histone demethylase activity [GO:0032452]; histone demethylase activity (H3-K27 specific) [GO:0071558]; metal ion binding [GO:0046872]; RNA polymerase II proximal promoter sequence-specific DNA binding [GO:0000978]; sequence-specific DNA binding [GO:0043565]; cardiac muscle cell differentiation [GO:0055007]; cell fate commitment [GO:0045165]; cellular response to hydrogen peroxide [GO:0070301]; chromatin remodeling [GO:0006338]; endothelial cell differentiation [GO:0045446]; hippocampus development [GO:0021766]; histone H3-K27 demethylation [GO:0071557]; inflammatory response to antigenic stimulus [GO:0002437]; mesodermal cell differentiation [GO:0048333]; positive regulation of cold-induced thermogenesis [GO:0120162]; positive regulation of transcription by RNA polymerase II [GO:0045944]; response to activity [GO:0014823]; response to fungicide [GO:0060992]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=2; IsoId=O15054-2; Sequence=Displayed; Note=Gene prediction based on similarity to mouse ortholog.; Name=1; IsoId=O15054-1; Sequence=VSP_040102; 


uniprotID: Q03164
geneSymbol: KMT2A
reactome: R-HSA-3214841;R-HSA-8936459;R-HSA-8939236;
length: 3969
go: ENSG00000118058;
snps: rs9332745 rs9332747 rs9332772 rs693598 rs9332837 rs9332838 rs9332839 rs9332859 rs9332861
pdb:
2AGH;2J2S;2JYI;2KKF;2KU7;2KYU;2LXS;2LXT;2MSR;2MTN;2W5Y;2W5Z;3EG6;3EMH;3LQH;3LQI;3LQJ;3P4F;3U85;3U88;4ESG;4GQ6;4NW3;5F5E;5F6L;5SVH;6EMQ;

name:
Histone-lysine N-methyltransferase 2A (Lysine N-methyltransferase 2A) (EC 2.1.1.43) (ALL-1) (CXXC-type zinc finger protein 7) (Myeloid/lymphoid or mixed-lineage leukemia) (Myeloid/lymphoid or mixed-lineage leukemia protein 1) (Trithorax-like protein) (Zinc finger protein HRX) [Cleaved into: MLL cleavage product N320 (N-terminal cleavage product of 320 kDa) (p320); MLL cleavage product C180 (C-terminal cleavage product of 180 kDa) (p180)]

sequence:

opentargets:
cytosol [GO:0005829]; histone methyltransferase complex [GO:0035097]; MLL1 complex [GO:0071339]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; AT DNA binding [GO:0003680]; DNA-binding transcription factor activity [GO:0003700]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; histone methyltransferase activity (H3-K4 specific) [GO:0042800]; histone-lysine N-methyltransferase activity [GO:0018024]; identical protein binding [GO:0042802]; lysine-acetylated histone binding [GO:0070577]; protein homodimerization activity [GO:0042803]; RNA polymerase II distal enhancer sequence-specific DNA binding [GO:0000980]; transcription regulatory region DNA binding [GO:0044212]; unmethylated CpG binding [GO:0045322]; zinc ion binding [GO:0008270]; apoptotic process [GO:0006915]; circadian regulation of gene expression [GO:0032922]; embryonic hemopoiesis [GO:0035162]; histone H3-K4 methylation [GO:0051568]; histone H3-K4 trimethylation [GO:0080182]; histone H4-K16 acetylation [GO:0043984]; negative regulation of DNA methylation [GO:1905642]; positive regulation of cellular response to drug [GO:2001040]; positive regulation of histone H3-K4 methylation [GO:0051571]; positive regulation of transcription by RNA polymerase II [GO:0045944]; positive regulation of transcription, DNA-templated [GO:0045893]; positive regulation of transporter activity [GO:0032411]; protein-containing complex assembly [GO:0065003]; regulation of hematopoietic stem cell differentiation [GO:1902036]; regulation of histone H3-K14 acetylation [GO:0071440]; regulation of histone H3-K9 acetylation [GO:2000615]; regulation of megakaryocyte differentiation [GO:0045652]; transcription by RNA polymerase II [GO:0006366]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q03164-1; Sequence=Displayed; Name=2; Synonyms=14P-18B; IsoId=Q03164-2; Sequence=VSP_006666; Name=3; IsoId=Q03164-3; Sequence=VSP_046879; 

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:12482972}.; SUBCELLULAR LOCATION: MLL cleavage product N320: Nucleus.; SUBCELLULAR LOCATION: MLL cleavage product C180: Nucleus. Note=Localizes to a diffuse nuclear pattern when not associated with MLL cleavage product N320.


uniprotID: Q15418
geneSymbol: RPS6KA1
reactome: R-HSA-198753;R-HSA-199920;R-HSA-2559582;R-HSA-437239;R-HSA-442742;R-HSA-444257;R-HSA-881907;
pdb: 2WNT;2Z7Q;2Z7R;2Z7S;3RNY;3TEI;4H3P;4NIF;5CSF;5CSI;5CSJ;5CSN;5N7D;5N7F;5N7G;5V61;5V62;
length: 735
go: ENSG00000117676;
drug: DB04751;
snps: rs2229712
location: SUBCELLULAR LOCATION: Nucleus. Cytoplasm.
name:
Ribosomal protein S6 kinase alpha-1 (S6K-alpha-1) (EC 2.7.11.1) (90 kDa ribosomal protein S6 kinase 1) (p90-RSK 1) (p90RSK1) (p90S6K) (MAP kinase-activated protein kinase 1a) (MAPK-activated protein kinase 1a) (MAPKAP kinase 1a) (MAPKAPK-1a) (Ribosomal S6 kinase 1) (RSK-1)

sequence:

opentargets:
cytosol [GO:0005829]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; ATP binding [GO:0005524]; cysteine-type endopeptidase inhibitor activity involved in apoptotic process [GO:0043027]; kinase activity [GO:0016301]; magnesium ion binding [GO:0000287]; protein serine/threonine kinase activity [GO:0004674]; protein serine/threonine/tyrosine kinase activity [GO:0004712]; ribosomal protein S6 kinase activity [GO:0004711]; cell cycle [GO:0007049]; hepatocyte proliferation [GO:0072574]; intracellular signal transduction [GO:0035556]; negative regulation of apoptotic process [GO:0043066]; negative regulation of cysteine-type endopeptidase activity involved in apoptotic process [GO:0043154]; positive regulation of cell differentiation [GO:0045597]; positive regulation of cell growth [GO:0030307]; positive regulation of hepatic stellate cell activation [GO:2000491]; positive regulation of transcription by RNA polymerase II [GO:0045944]; regulation of DNA-templated transcription in response to stress [GO:0043620]; regulation of translation in response to stress [GO:0043555]; signal transduction [GO:0007165]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=Q15418-1; Sequence=Displayed; Name=2; IsoId=Q15418-2; Sequence=VSP_041380; Name=3; IsoId=Q15418-3; Sequence=VSP_041580; Note=No experimental confirmation available.; Name=4 {ECO:0000305}; IsoId=Q15418-4; Sequence=VSP_057469; 


uniprotID: Q9BQD3
geneSymbol: KXD1
name: KxDL motif-containing protein 1
length: 176
go: ENSG00000105700;
snps: rs7648
location: SUBCELLULAR LOCATION: Lysosome membrane {ECO:0000305|PubMed:25898167}.
sequence:
MDLPDSASRVFCGRILSMVNTDDVNAIILAQKNMLDRFEKTNEMLLNFNNLSSARLQQMSERFLHHTRTLVEMKRDLDSIFRRIRTLKGKLARQHPEAFSHIPEASFLEEEDEDPIPPSTTTTIATSEQSTGSCDTSPDTVSPSLSPGFEDLSHVQPGSPAINGRSQTDDEEMTGE

opentargets:
BLOC-1 complex [GO:0031083]; BORC complex [GO:0099078]; lysosomal membrane [GO:0005765]; lysosome localization [GO:0032418]; vesicle-mediated transport [GO:0016192]


uniprotID: Q9NS86
geneSymbol: LANCL2
name: LanC-like protein 2 (Testis-specific adriamycin sensitivity protein)
length: 450
go: ENSG00000132434;
snps: rs2272263 rs6961412
sequence:

opentargets:
cortical actin cytoskeleton [GO:0030864]; cytosol [GO:0005829]; nucleus [GO:0005634]; plasma membrane [GO:0005886]; ATP binding [GO:0005524]; catalytic activity [GO:0003824]; GTP binding [GO:0005525]; phosphatidylinositol-3-phosphate binding [GO:0032266]; phosphatidylinositol-4-phosphate binding [GO:0070273]; phosphatidylinositol-5-phosphate binding [GO:0010314]; negative regulation of transcription, DNA-templated [GO:0045892]; positive regulation of abscisic acid-activated signaling pathway [GO:0009789]

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:12566319}. Cytoplasm {ECO:0000269|PubMed:12566319}. Cell membrane {ECO:0000269|PubMed:12566319, ECO:0000269|PubMed:16979580}. Note=Localizes to the juxta-nuclear vesicles (PubMed:16979580). Associates with the cortical actin cytoskeleton (PubMed:16979580). Cholesterol depletion by methyl-beta-cyclodextrin causes partial dissociation from the cell membrane in vitro and an enhanced cell detachment from the matrix in vivo (PubMed:16979580). Membrane-association is important for the increased cellular sensitivity to an anticancer drug (adriamycin) (PubMed:16979580). {ECO:0000269|PubMed:16979580}.


uniprotID: O76015
geneSymbol: KRT38
reactome: R-HSA-6805567;R-HSA-6809371;
name: Keratin, type I cuticular Ha8 (Hair keratin, type I Ha8) (Keratin-38) (K38)
length: 456
go: ENSG00000171360;
snps: rs897416
sequence:


uniprotID: Q99612
geneSymbol: KLF6
length: 283
go: ENSG00000067082;
snps: rs121909142 rs121909139 rs121909141 rs121909144 rs121909143 rs372338890
location: SUBCELLULAR LOCATION: Nucleus.
name:
Krueppel-like factor 6 (B-cell-derived protein 1) (Core promoter element-binding protein) (GC-rich sites-binding factor GBF) (Proto-oncogene BCD1) (Suppressor of tumorigenicity 12 protein) (Transcription factor Zf9)

sequence:

opentargets:
cytosol [GO:0005829]; fibrillar center [GO:0001650]; intracellular membrane-bounded organelle [GO:0043231]; nucleolus [GO:0005730]; nucleus [GO:0005634]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; double-stranded DNA binding [GO:0003690]; metal ion binding [GO:0046872]; proximal promoter DNA-binding transcription activator activity, RNA polymerase II-specific [GO:0001077]; RNA polymerase II proximal promoter sequence-specific DNA binding [GO:0000978]; B cell differentiation [GO:0030183]; cytokine-mediated signaling pathway [GO:0019221]; positive regulation of transcription by RNA polymerase II [GO:0045944]; positive regulation of transcription, DNA-templated [GO:0045893]; regulation of transcription by RNA polymerase II [GO:0006357]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q99612-1; Sequence=Displayed; Name=2; IsoId=Q99612-2; Sequence=VSP_015715; Note=No experimental confirmation available.; Name=3; IsoId=Q99612-3; Sequence=VSP_045808; 


uniprotID: Q13887
geneSymbol: KLF5
reactome: R-HSA-381340;
pdb: 2EBT;
length: 457
go: ENSG00000102554;
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:15735697}.
name:
Krueppel-like factor 5 (Basic transcription element-binding protein 2) (BTE-binding protein 2) (Colon krueppel-like factor) (GC-box-binding protein 2) (Intestinal-enriched krueppel-like factor) (Transcription factor BTEB2)

sequence:

opentargets:
Golgi apparatus [GO:0005794]; intracellular membrane-bounded organelle [GO:0043231]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; metal ion binding [GO:0046872]; proximal promoter DNA-binding transcription activator activity, RNA polymerase II-specific [GO:0001077]; RNA polymerase II proximal promoter sequence-specific DNA binding [GO:0000978]; transcription factor binding [GO:0008134]; angiogenesis [GO:0001525]; cell-cell signaling via exosome [GO:0099156]; cellular response to leukemia inhibitory factor [GO:1990830]; cellular response to organic cyclic compound [GO:0071407]; cellular response to peptide [GO:1901653]; intestinal epithelial cell development [GO:0060576]; microvillus assembly [GO:0030033]; negative regulation of transcription by RNA polymerase II [GO:0000122]; positive regulation of cell proliferation [GO:0008284]; positive regulation of fat cell differentiation [GO:0045600]; positive regulation of pri-miRNA transcription by RNA polymerase II [GO:1902895]; positive regulation of transcription by RNA polymerase II [GO:0045944]; regulation of microvillus assembly [GO:0032534]; regulation of transcription by RNA polymerase II [GO:0006357]; skeletal muscle cell differentiation [GO:0035914]; transcription by RNA polymerase II [GO:0006366]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=Q13887-1; Sequence=Displayed; Name=2; IsoId=Q13887-2; Sequence=VSP_047474; Name=3; IsoId=Q13887-3; Sequence=VSP_047475, VSP_047476; Name=4; IsoId=Q13887-4; Sequence=VSP_057567; 


uniprotID: P04433
geneSymbol: IGKV3-11
pdb: 3EYQ;
name: Immunoglobulin kappa variable 3-11 (Ig kappa chain V-III region VG)
length: 115
go: ENSG00000241351;
sequence:
MEAPAQLLFLLLLWLPDTTGEIVLTQSPATLSLSPGERATLSCRASQSVSSYLAWYQQKPGQAPRLLIYDASNRATGIPARFSGSGSGTDFTLTISSLEPEDFAVYYCQQRSNWP


uniprotID: P01624
geneSymbol: IGKV3-15
length: 115
go: ENSG00000244437;
name:
Immunoglobulin kappa variable 3-15 (Ig kappa chain V-III region CLL) (Ig kappa chain V-III region POM)

sequence:
MEAPAQLLFLLLLWLPDTTGEIVMTQSPATLSVSPGERATLSCRASQSVSSNLAWYQQKPGQAPRLLIYGASTRATGIPARFSGSGSGTEFTLTISSLQSEDFAVYYCQQYNNWP


uniprotID: Q8IUC0
geneSymbol: KRTAP13-1
reactome: R-HSA-6805567;
name: Keratin-associated protein 13-1 (High sulfur keratin-associated protein 13.1)
length: 172
go: ENSG00000198390;
opentargets: cytosol [GO:0005829]; intermediate filament [GO:0005882]; keratinization [GO:0031424]
sequence:
MSYNCCSGNFSSRSCGGYLHYPASSCGFSYPSNQVYSTDLCSPSTCQLGSSLYRGCQQTCWEPTSCQTSYVESSPCQTSCYRPRTSLLCSPCQTTYSGSLGFGSSSCRSLGYGSRSCYSVGCGSSGFRSLGYGGCGFPSLGYGVGFCRPTYLASRSCQSSCYRPTCGSGFYY


uniprotID: P20151
geneSymbol: KLK2
reactome: R-HSA-1592389;R-HSA-381426;R-HSA-5625886;
pdb: 4NFE;4NFF;
name: Kallikrein-2 (EC 3.4.21.35) (Glandular kallikrein-1) (hGK-1) (Tissue kallikrein-2)
length: 261
go: ENSG00000167751;
snps: rs6072 rs198977 rs60268688
sequence:

opentargets:
extracellular exosome [GO:0070062]; extracellular region [GO:0005576]; secretory granule [GO:0030141]; serine-type endopeptidase activity [GO:0004252]; extracellular matrix disassembly [GO:0022617]; regulation of systemic arterial blood pressure [GO:0003073]; zymogen activation [GO:0031638]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=P20151-1; Sequence=Displayed; Name=2; Synonyms=PGK-10A; IsoId=P20151-2; Sequence=VSP_005399; Name=3; IsoId=P20151-3; Sequence=VSP_005400; 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=P20151-4; Sequence=VSP_044709; Note=No experimental confirmation available.; 


uniprotID: Q49AS3
geneSymbol: LRRC37A5P
name: Putative protein LRRC37A5P (Leucine-rich repeat-containing 37 member A5 pseudogene)
length: 106
sequence:
MNRNILEEMLQYLLIDWIVGDQFEIQLNQQLWSLIPNNDVRRLVSHVIRTLKTDCTETHLQLACAKLISRTGLLMKLLSEQQELRTVSMTAWKPRMNRKSRSRMRS


uniprotID: C9JBD0
geneSymbol: KRBOX1
name: KRAB domain-containing protein 1
length: 128
go: ENSG00000240747;
sequence:
MMTAVSLTTRPQESVAFEDVAVYFTTKEWAIMVPAERALYRDVMLENYEAVAFVVPPTSKPALVSHLEQGKESCFTQPQGVLSRNDWRAGWIGYLELRRYTYLAKAVLRRIVSKIFRNRQCWEDRRKA

opentargets:
nucleus [GO:0005634]; nucleic acid binding [GO:0003676]; regulation of transcription, DNA-templated [GO:0006355]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=C9JBD0-1; Sequence=Displayed; Name=2; IsoId=C9JBD0-2; Sequence=VSP_040580; Note=No experimental confirmation available.; 


uniprotID: P25391
geneSymbol: LAMA1
reactome: R-HSA-3000157;R-HSA-3000171;R-HSA-3000178;R-HSA-373760;R-HSA-8874081;
length: 3075
go: ENSG00000101680;
name:
Laminin subunit alpha-1 (Laminin A chain) (Laminin-1 subunit alpha) (Laminin-3 subunit alpha) (S-laminin subunit alpha) (S-LAM alpha)

sequence:

opentargets:
basement membrane [GO:0005604]; cell-cell junction [GO:0005911]; collagen-containing extracellular matrix [GO:0062023]; extracellular matrix [GO:0031012]; extracellular region [GO:0005576]; extracellular space [GO:0005615]; laminin-1 complex [GO:0005606]; laminin-3 complex [GO:0005608]; membrane [GO:0016020]; extracellular matrix structural constituent [GO:0005201]; glycosphingolipid binding [GO:0043208]; protein C-terminus binding [GO:0008022]; signaling receptor binding [GO:0005102]; branching involved in salivary gland morphogenesis [GO:0060445]; cell adhesion [GO:0007155]; cell surface receptor signaling pathway [GO:0007166]; epithelial tube branching involved in lung morphogenesis [GO:0060441]; establishment of epithelial cell apical/basal polarity [GO:0045198]; extracellular matrix organization [GO:0030198]; morphogenesis of an epithelial sheet [GO:0002011]; neuron projection development [GO:0031175]; protein phosphorylation [GO:0006468]; regulation of cell adhesion [GO:0030155]; regulation of cell migration [GO:0030334]; regulation of embryonic development [GO:0045995]; retinal blood vessel morphogenesis [GO:0061304]

snps:
rs9950267 rs16951079 rs566655 rs662471 rs12961939 rs596315 rs11872364 rs16950981 rs11664063 rs607230 rs671871 rs60009920 rs543355 

location:
SUBCELLULAR LOCATION: Secreted, extracellular space, extracellular matrix, basement membrane. Note=Major component.


uniprotID: P14618
geneSymbol: PKM
reactome: R-HSA-6798695;R-HSA-70171;
length: 531
go: ENSG00000067225;
drug: DB02726;DB01733;DB00119;
snps: rs17853396
pdb:
1T5A;1ZJH;3BJF;3BJT;3G2G;3GQY;3GR4;3H6O;3ME3;3SRD;3SRF;3SRH;3U2Z;4B2D;4FXF;4FXJ;4G1N;4JPG;4QG6;4QG8;4QG9;4QGC;4RPP;4WJ8;4YJ5;5X0I;5X1V;5X1W;6B6U;6GG4;6GG5;6GG6;

name:
Pyruvate kinase PKM (EC 2.7.1.40) (Cytosolic thyroid hormone-binding protein) (CTHBP) (Opa-interacting protein 3) (OIP-3) (Pyruvate kinase 2/3) (Pyruvate kinase muscle isozyme) (Thyroid hormone-binding protein 1) (THBP1) (Tumor M2-PK) (p58)

sequence:

opentargets:
cilium [GO:0005929]; collagen-containing extracellular matrix [GO:0062023]; cytoplasm [GO:0005737]; cytosol [GO:0005829]; extracellular exosome [GO:0070062]; extracellular region [GO:0005576]; extracellular vesicle [GO:1903561]; ficolin-1-rich granule lumen [GO:1904813]; mitochondrion [GO:0005739]; myelin sheath [GO:0043209]; nucleus [GO:0005634]; pyruvate kinase complex [GO:1902912]; secretory granule lumen [GO:0034774]; vesicle [GO:0031982]; ADP binding [GO:0043531]; ATP binding [GO:0005524]; cadherin binding [GO:0045296]; identical protein binding [GO:0042802]; kinase activity [GO:0016301]; magnesium ion binding [GO:0000287]; MHC class II protein complex binding [GO:0023026]; potassium ion binding [GO:0030955]; pyruvate kinase activity [GO:0004743]; RNA binding [GO:0003723]; thyroid hormone binding [GO:0070324]; animal organ regeneration [GO:0031100]; canonical glycolysis [GO:0061621]; cellular response to insulin stimulus [GO:0032869]; glycolytic process [GO:0006096]; liver development [GO:0001889]; neutrophil degranulation [GO:0043312]; positive regulation of sprouting angiogenesis [GO:1903672]; programmed cell death [GO:0012501]; protein homotetramerization [GO:0051289]; response to gravity [GO:0009629]; response to hypoxia [GO:0001666]; response to muscle inactivity [GO:0014870]; response to nutrient [GO:0007584]; skeletal muscle tissue regeneration [GO:0043403]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=M2; Synonyms=M2-PK, PKM2; IsoId=P14618-1; Sequence=Displayed; Name=M1; Synonyms=M1-PK, PKM1; IsoId=P14618-2, P14786-1; Sequence=VSP_011101; Name=3; IsoId=P14618-3; Sequence=VSP_043370; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:25263439}. Nucleus. Note=Translocates to the nucleus in response to different apoptotic stimuli. Nuclear translocation is sufficient to induce cell death that is caspase independent, isoform-specific and independent of its enzymatic activity.


uniprotID: Q6ZNG9
geneSymbol: KRBA2
name: KRAB-A domain-containing protein 2
length: 492
go: ENSG00000184619;
snps: rs370752
sequence:

opentargets:
intracellular [GO:0005622]; nucleic acid binding [GO:0003676]; DNA integration [GO:0015074]; regulation of transcription, DNA-templated [GO:0006355]


uniprotID: Q8IZD2
geneSymbol: KMT2E
reactome: R-HSA-3214841;R-HSA-8936459;
pdb: 2LV9;4L58;5HT6;
length: 1858
go: ENSG00000005483;
snps: rs35605511
name:
Inactive histone-lysine N-methyltransferase 2E (Inactive lysine N-methyltransferase 2E) (Myeloid/lymphoid or mixed-lineage leukemia protein 5)

sequence:

opentargets:
chromatin [GO:0000785]; cytoplasm [GO:0005737]; microtubule organizing center [GO:0005815]; nuclear speck [GO:0016607]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; plasma membrane [GO:0005886]; protein-containing complex [GO:0032991]; transcriptionally active chromatin [GO:0035327]; enzyme binding [GO:0019899]; histone-lysine N-methyltransferase activity [GO:0018024]; metal ion binding [GO:0046872]; methylated histone binding [GO:0035064]; cell cycle arrest [GO:0007050]; DNA methylation [GO:0006306]; erythrocyte differentiation [GO:0030218]; neutrophil activation [GO:0042119]; neutrophil mediated immunity [GO:0002446]; positive regulation of G1/S transition of mitotic cell cycle [GO:1900087]; positive regulation of histone H3-K4 trimethylation [GO:1905437]; positive regulation of transcription, DNA-templated [GO:0045893]; regulation of megakaryocyte differentiation [GO:0045652]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=8;  Name=1 {ECO:0000269|PubMed:12101424, ECO:0000269|Ref.3}; IsoId=Q8IZD2-1; Sequence=Displayed; Name=2 {ECO:0000269|Ref.3}; IsoId=Q8IZD2-2; Sequence=VSP_052803; Note=No experimental confirmation available. {ECO:0000305}; Name=3 {ECO:0000269|PubMed:15489334}; IsoId=Q8IZD2-3; Sequence=VSP_052804, VSP_052805; Name=4 {ECO:0000269|Ref.3}; IsoId=Q8IZD2-4; Sequence=VSP_052806, VSP_052807; Note=No experimental confirmation available. {ECO:0000305}; Name=5 {ECO:0000269|Ref.3}; IsoId=Q8IZD2-5; Sequence=VSP_052810, VSP_052812; Name=6 {ECO:0000269|Ref.3}; IsoId=Q8IZD2-6; Sequence=VSP_052809, VSP_052811; Name=7 {ECO:0000269|Ref.3}; IsoId=Q8IZD2-7; Sequence=VSP_052808; Note=No experimental confirmation available. {ECO:0000305}; Name=NKp44L {ECO:0000303|PubMed:23958951}; IsoId=Q8IZD2-8; Sequence=VSP_053834, VSP_053835; 

location:
SUBCELLULAR LOCATION: Chromosome {ECO:0000269|PubMed:23798402}. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome {ECO:0000269|PubMed:23798402}. Nucleus speckle {ECO:0000269|PubMed:14718661}. Note=Absent from the nucleolus (PubMed:14718661). Localizes to chromosome during interphase and to centrosomes during mitosis (PubMed:23798402). Dissociation from mitotic chromosome is likely due to histone H3 phosphorylation on 'Thr-3' and 'Thr-6' (PubMed:23798402). {ECO:0000269|PubMed:14718661, ECO:0000269|PubMed:23798402}.; SUBCELLULAR LOCATION: Isoform 3: Nucleus, nucleoplasm {ECO:0000269|PubMed:23629655, ECO:0000269|PubMed:26678539}. Nucleus speckle {ECO:0000269|PubMed:23798402}. Note=Absent from the nucleolus (PubMed:23629655). Localizes to chromosome during interphase and to nucleus speckle during mitosis (PubMed:23798402). Dissociation from mitotic chromosome is likely due to histone H3 phosphorylation on 'Thr-3' and 'Thr-6' (PubMed:23798402). {ECO:0000269|PubMed:23629655, ECO:0000269|PubMed:23798402}.; SUBCELLULAR LOCATION: Isoform NKp44L: Cytoplasm {ECO:0000269|PubMed:23958951}. Cell membrane {ECO:0000269|PubMed:23958951}; Peripheral membrane protein {ECO:0000269|PubMed:23958951}.


uniprotID: O43790
geneSymbol: KRT86
reactome: R-HSA-6805567;R-HSA-6809371;
length: 486
go: ENSG00000170442;
snps: rs61091894 rs61091894 rs60687604 rs60687604 rs121909130 rs121909129
name:
Keratin, type II cuticular Hb6 (Hair keratin K2.11) (Keratin-86) (K86) (Type II hair keratin Hb6) (Type-II keratin Kb26)

sequence:

opentargets:
cytosol [GO:0005829]; extracellular space [GO:0005615]; keratin filament [GO:0045095]; structural molecule activity [GO:0005198]; cornification [GO:0070268]; keratinization [GO:0031424]


uniprotID: A8MUX0
geneSymbol: KRTAP16-1
reactome: R-HSA-6805567;
name: Keratin-associated protein 16-1
length: 517
opentargets: cytosol [GO:0005829]; keratin filament [GO:0045095]; keratinization [GO:0031424]
sequence:


uniprotID: P60985
geneSymbol: KRTDAP
name: Keratinocyte differentiation-associated protein
sequence: MKIPVLPAVVLLSLLVLHSAQGATLGGPEEESTIENYASRPEAFNTPFLNIDKLRSAFKADEFLNWHALFESIKRKLPFLNWDAFPKLKGLRSATPDAQ
length: 99
go: ENSG00000188508;
location: SUBCELLULAR LOCATION: Secreted {ECO:0000269|PubMed:15140226}.
opentargets:
extracellular space [GO:0005615]; lamellar body [GO:0042599]; cell differentiation [GO:0030154]; epidermis development [GO:0008544]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P60985-1; Sequence=Displayed; Name=2; IsoId=P60985-2; Sequence=VSP_030856; 


uniprotID: P0C5Y4
geneSymbol: KRTAP1-4
reactome: R-HSA-6805567;
length: 121
opentargets: cytosol [GO:0005829]; keratin filament [GO:0045095]; keratinization [GO:0031424]
name:
Keratin-associated protein 1-4 (High sulfur keratin-associated protein 1.4) (Keratin-associated protein 1.4)

sequence:
MASCSTSGTCGSSCCQPSCCETSCCQPSCCQTSSCGTGCGIGGGIGYGQEGSGGSVSTRIRWCHPDCHVEGTCLPPCYLVSCTPPSCCQLHHAEASCCRPSYCGQSCCRPACCCHCCEPTC


uniprotID: P17252
geneSymbol: PRKCA
pdb: 2ELI;3IW4;4DNL;4RA4;
name: Protein kinase C alpha type (PKC-A) (PKC-alpha) (EC 2.7.11.13)
length: 672
go: ENSG00000154229;
drug: DB08846;DB05013;DB00144;DB00675;DB00163;
snps: rs34406842 rs6504459
reactome:
R-HSA-111933;R-HSA-114516;R-HSA-1250196;R-HSA-1433557;R-HSA-1433559;R-HSA-2179392;R-HSA-2514859;R-HSA-3000170;R-HSA-399997;R-HSA-4086398;R-HSA-416993;R-HSA-418597;R-HSA-4419969;R-HSA-450520;R-HSA-5099900;R-HSA-5218921;R-HSA-76005;R-HSA-8853659;R-HSA-9010642;

sequence:

opentargets:
alphav-beta3 integrin-PKCalpha complex [GO:0035866]; cytoplasm [GO:0005737]; cytosol [GO:0005829]; endoplasmic reticulum [GO:0005783]; extracellular exosome [GO:0070062]; mitochondrial membrane [GO:0031966]; mitochondrion [GO:0005739]; nucleoplasm [GO:0005654]; perinuclear region of cytoplasm [GO:0048471]; plasma membrane [GO:0005886]; ATP binding [GO:0005524]; calcium-dependent protein kinase C activity [GO:0004698]; enzyme binding [GO:0019899]; histone kinase activity (H3-T6 specific) [GO:0035403]; integrin binding [GO:0005178]; protein kinase activity [GO:0004672]; protein kinase C activity [GO:0004697]; protein serine/threonine kinase activity [GO:0004674]; zinc ion binding [GO:0008270]; angiogenesis [GO:0001525]; apoptotic signaling pathway [GO:0097190]; axon guidance [GO:0007411]; cell adhesion [GO:0007155]; desmosome assembly [GO:0002159]; ERBB2 signaling pathway [GO:0038128]; histone H3-T6 phosphorylation [GO:0035408]; intracellular signal transduction [GO:0035556]; mitotic nuclear envelope disassembly [GO:0007077]; negative regulation of glial cell apoptotic process [GO:0034351]; peptidyl-serine phosphorylation [GO:0018105]; peptidyl-threonine phosphorylation [GO:0018107]; platelet activation [GO:0030168]; positive regulation of adenylate cyclase-activating G protein-coupled receptor signaling pathway [GO:0106071]; positive regulation of angiogenesis [GO:0045766]; positive regulation of blood vessel endothelial cell migration [GO:0043536]; positive regulation of bone resorption [GO:0045780]; positive regulation of cardiac muscle hypertrophy [GO:0010613]; positive regulation of cell adhesion [GO:0045785]; positive regulation of cell migration [GO:0030335]; positive regulation of dense core granule biogenesis [GO:2000707]; positive regulation of endothelial cell migration [GO:0010595]; positive regulation of endothelial cell proliferation [GO:0001938]; positive regulation of ERK1 and ERK2 cascade [GO:0070374]; positive regulation of lipopolysaccharide-mediated signaling pathway [GO:0031666]; positive regulation of macrophage differentiation [GO:0045651]; positive regulation of mitotic cell cycle [GO:0045931]; protein phosphorylation [GO:0006468]; regulation of insulin secretion [GO:0050796]; regulation of mRNA stability [GO:0043488]; regulation of platelet aggregation [GO:0090330]; response to interleukin-1 [GO:0070555]

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:23990668}. Cell membrane {ECO:0000269|PubMed:23990668}; Peripheral membrane protein {ECO:0000305|PubMed:23990668}. Mitochondrion membrane {ECO:0000269|PubMed:9738012}; Peripheral membrane protein {ECO:0000305|PubMed:9738012}. Nucleus {ECO:0000250|UniProtKB:P20444}.


uniprotID: Q9NSB2
geneSymbol: KRT84
reactome: R-HSA-6805567;R-HSA-6809371;
name: Keratin, type II cuticular Hb4 (Keratin-84) (K84) (Type II hair keratin Hb4) (Type-II keratin Kb24)
length: 600
go: ENSG00000161849;
snps: rs1613931 rs1732301 rs2245203 rs951773 rs7297413
sequence:

opentargets:
cytosol [GO:0005829]; extracellular exosome [GO:0070062]; keratin filament [GO:0045095]; structural constituent of cytoskeleton [GO:0005200]; structural constituent of epidermis [GO:0030280]; cornification [GO:0070268]; hair follicle development [GO:0001942]; keratinization [GO:0031424]; nail development [GO:0035878]; regulation of keratinocyte differentiation [GO:0045616]


uniprotID: A6NMS7
geneSymbol: LRRC37A
name: Leucine-rich repeat-containing protein 37A
length: 1700
go: ENSG00000176681;
opentargets: integral component of membrane [GO:0016021]
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Single-pass type I membrane protein {ECO:0000305}.
sequence:


uniprotID: O75690
geneSymbol: KRTAP5-8
reactome: R-HSA-6805567;
length: 187
go: ENSG00000241233;
snps: rs55921335
name:
Keratin-associated protein 5-8 (Keratin, ultra high-sulfur matrix protein B) (Keratin-associated protein 5.8) (UHS keratin B) (UHS KerB) (Ultrahigh sulfur keratin-associated protein 5.8)

sequence:
MGCCGCSGGCGSGCGGCGSGCGGCGSSCCVPICCCKPVCCCVPACSCSSCGSCGGSKGGRGSCGGSKGDCGSCGGSKGGCGSCGCSQCSCYKPCCCSSGCGSSCCQSSCCKPCCSQSSCCKPCSCSSGCGSSCCQSSCCKPCCSQSSCCKPCCCSSGCGSSCCQSSCCKPCCSQSSCCVPICCQCKI

opentargets:
cytosol [GO:0005829]; keratin filament [GO:0045095]; structural constituent of epidermis [GO:0030280]; keratinization [GO:0031424]


uniprotID: Q53GT1
geneSymbol: KLHL22
reactome: R-HSA-8951664;R-HSA-983168;
name: Kelch-like protein 22
length: 634
go: ENSG00000099910;
sequence:

opentargets:
centrosome [GO:0005813]; Cul3-RING ubiquitin ligase complex [GO:0031463]; cytoplasm [GO:0005737]; cytosol [GO:0005829]; lysosome [GO:0005764]; mitotic spindle [GO:0072686]; nucleus [GO:0005634]; polar microtubule [GO:0005827]; 14-3-3 protein binding [GO:0071889]; cell division [GO:0051301]; cellular response to leucine [GO:0071233]; mitotic sister chromatid segregation [GO:0000070]; mitotic spindle assembly checkpoint [GO:0007094]; negative regulation of autophagy [GO:0010507]; positive regulation of cell growth [GO:0030307]; positive regulation of TORC1 signaling [GO:1904263]; post-translational protein modification [GO:0043687]; proteasome-mediated ubiquitin-dependent protein catabolic process [GO:0043161]; protein monoubiquitination [GO:0006513]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q53GT1-1; Sequence=Displayed; Name=2; IsoId=Q53GT1-3; Sequence=VSP_057028; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasm, cytosol {ECO:0000269|PubMed:23455478, ECO:0000269|PubMed:29769719}. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome {ECO:0000269|PubMed:23455478}. Cytoplasm, cytoskeleton, spindle {ECO:0000269|PubMed:23455478}. Nucleus {ECO:0000269|PubMed:29769719}. Lysosome {ECO:0000269|PubMed:29769719}. Note=Mainly cytoplasmic in prophase and prometaphase. Associates with the mitotic spindle as the cells reach chromosome bi-orientation. Localizes to the centrosomes shortly before cells enter anaphase After anaphase onset, predominantly associates with the polar microtubules connecting the 2 opposing centrosomes and gradually diffuses into the cytoplasm during telophase (PubMed:23455478). Localizes to the nucleus upon amino acid starvation (PubMed:29769719). Relocalizes to the cytosol and associates with lysosomes when amino acids are available (PubMed:29769719). {ECO:0000269|PubMed:23455478, ECO:0000269|PubMed:29769719}.


uniprotID: A0A0C4DH24
geneSymbol: IGKV6-21
name: Immunoglobulin kappa variable 6-21
length: 114
go: ENSG00000211611;
sequence:
MLPSQLIGFLLLWVPASRGEIVLTQSPDFQSVTPKEKVTITCRASQSIGSSLHWYQQKPDQSPKLLIKYASQSFSGVPSRFSGSGSGTDFTLTINSLEAEDAATYYCHQSSSLP


uniprotID: A0A0C4DH72
geneSymbol: IGKV1-6
name: Immunoglobulin kappa variable 1-6
length: 117
go: ENSG00000239855;
sequence:
MDMRVPAQLLGLLLLWLPGARCAIQMTQSPSSLSASVGDRVTITCRASQGIRNDLGWYQQKPGKAPKLLIYAASSLQSGVPSRFSGSGSGTDFTLTISSLQPEDFATYYCLQDYNYP


uniprotID: Q2LD37
geneSymbol: KIAA1109
name: Transmembrane protein KIAA1109 (Fragile site-associated protein)
length: 5005
go: ENSG00000138688;
snps: rs6848868 rs56363411 rs45608936 rs2306369 rs10017270
location: SUBCELLULAR LOCATION: Membrane {ECO:0000255}; Single-pass membrane protein {ECO:0000255}.
sequence:

opentargets:
integral component of membrane [GO:0016021]; membrane [GO:0016020]; nucleus [GO:0005634]; presynapse [GO:0098793]; regulation of cell growth [GO:0001558]; regulation of epithelial cell differentiation [GO:0030856]; synaptic vesicle endocytosis [GO:0048488]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=6;  Name=1; IsoId=Q2LD37-1; Sequence=Displayed; Name=2; IsoId=Q2LD37-2; Sequence=VSP_031023, VSP_031026, VSP_031027; Name=4; IsoId=Q2LD37-4; Sequence=VSP_031023; Name=5; IsoId=Q2LD37-5; Sequence=VSP_031024, VSP_031025; Note=No experimental confirmation available.; Name=6; IsoId=Q2LD37-6; Sequence=VSP_031028, VSP_031029; Note=No experimental confirmation available.; Name=7; IsoId=Q2LD37-7; Sequence=VSP_031030, VSP_031031; Note=No experimental confirmation available.; 


uniprotID: Q5VV43
geneSymbol: KIAA0319
reactome: R-HSA-8856825;R-HSA-8856828;
pdb: 2E7M;
name: Dyslexia-associated protein KIAA0319
length: 1072
go: ENSG00000137261;
snps: rs4576240 rs4504469 rs2744559 rs2744550 rs2817191 rs10946705 rs807534
sequence:

opentargets:
clathrin-coated vesicle membrane [GO:0030665]; cytoplasmic vesicle [GO:0031410]; early endosome [GO:0005769]; early endosome membrane [GO:0031901]; integral component of membrane [GO:0016021]; intracellular membrane-bounded organelle [GO:0043231]; plasma membrane [GO:0005886]; membrane organization [GO:0061024]; negative regulation of dendrite development [GO:2000171]; neuron migration [GO:0001764]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Comment=Additional isoforms seem to exist.; Name=1; Synonyms=A; IsoId=Q5VV43-1; Sequence=Displayed; Name=2; IsoId=Q5VV43-2; Sequence=VSP_036235; Name=3; IsoId=Q5VV43-3; Sequence=VSP_036234; Name=4; IsoId=Q5VV43-4; Sequence=VSP_044971; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:18063668, ECO:0000269|PubMed:19419997}; Single-pass type I membrane protein {ECO:0000269|PubMed:18063668}. Early endosome membrane {ECO:0000269|PubMed:19419997}; Single-pass type I membrane protein {ECO:0000269|PubMed:18063668}. Note=Low-abundance isoforms lacking the transmembrane domain have been described; these are secreted. {ECO:0000269|PubMed:18063668}.


uniprotID: Q14532
geneSymbol: KRT32
reactome: R-HSA-6805567;R-HSA-6809371;
name: Keratin, type I cuticular Ha2 (Hair keratin, type I Ha2) (Keratin-32) (K32)
length: 448
go: ENSG00000108759;
sequence:

opentargets:
cytosol [GO:0005829]; extracellular exosome [GO:0070062]; intermediate filament [GO:0005882]; structural molecule activity [GO:0005198]; cornification [GO:0070268]; epidermis development [GO:0008544]; keratinization [GO:0031424]

snps:
rs3744786 rs565998951 rs1111168 rs2071560 rs2071561 rs72830046 rs16966929 rs2071563 rs2604955 rs2604953 rs9893787 


uniprotID: O94854
geneSymbol: KIAA0754
name: Uncharacterized protein KIAA0754
length: 1291
snps: rs1746842 rs783822 rs587523
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=O94854-1; Sequence=Displayed; Name=2; IsoId=O94854-2; Sequence=VSP_027016, VSP_027017; Note=No experimental confirmation available.; 


uniprotID: P08729
geneSymbol: KRT7
reactome: R-HSA-6805567;R-HSA-6809371;
pdb: 4XIF;
length: 469
go: ENSG00000135480;
drug: DB04959;DB01087;
snps: rs6580870 rs2608009
location: SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:2459129}.
name:
Keratin, type II cytoskeletal 7 (Cytokeratin-7) (CK-7) (Keratin-7) (K7) (Sarcolectin) (Type-II keratin Kb7)

sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; extracellular exosome [GO:0070062]; intermediate filament [GO:0005882]; keratin filament [GO:0045095]; nucleus [GO:0005634]; structural molecule activity [GO:0005198]; cornification [GO:0070268]; keratinization [GO:0031424]; viral process [GO:0016032]


uniprotID: Q9Y6K8
geneSymbol: AK5
reactome: R-HSA-499943;
pdb: 2BWJ;
name: Adenylate kinase isoenzyme 5 (AK 5) (EC 2.7.4.3) (EC 2.7.4.6) (ATP-AMP transphosphorylase 5)
length: 562
go: ENSG00000154027;
snps: rs2803140
location: SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:19647735}.
sequence:

opentargets:
cytosol [GO:0005829]; microtubule organizing center [GO:0005815]; adenylate kinase activity [GO:0004017]; ATP binding [GO:0005524]; nucleoside diphosphate kinase activity [GO:0004550]; nucleoside kinase activity [GO:0019206]; ADP biosynthetic process [GO:0006172]; ATP metabolic process [GO:0046034]; dADP biosynthetic process [GO:0006173]; nucleobase-containing small molecule interconversion [GO:0015949]; nucleoside diphosphate phosphorylation [GO:0006165]; nucleoside triphosphate biosynthetic process [GO:0009142]; pyrimidine ribonucleotide biosynthetic process [GO:0009220]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q9Y6K8-1; Sequence=Displayed; Name=2; IsoId=Q9Y6K8-2; Sequence=VSP_037878; Note=It is unsure whether Met-1 or Met-5 is the initiator.; Name=3; Synonyms=Adenylate kinase 6; IsoId=Q9Y6K8-3; Sequence=VSP_037879; 


uniprotID: Q8NB78
geneSymbol: KDM1B
reactome: R-HSA-3214842;R-HSA-5689603;
pdb: 4FWE;4FWF;4FWJ;4GU0;4GU1;4GUR;4GUS;4GUT;4GUU;4HSU;
length: 822
go: ENSG00000165097;
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000250}.
name:
Lysine-specific histone demethylase 1B (EC 1.-.-.-) (Flavin-containing amine oxidase domain-containing protein 1) (Lysine-specific histone demethylase 2)

sequence:

opentargets:
nucleoplasm [GO:0005654]; nucleosome [GO:0000786]; nucleus [GO:0005634]; DNA binding [GO:0003677]; FAD binding [GO:0071949]; histone binding [GO:0042393]; histone demethylase activity [GO:0032452]; histone demethylase activity (H3-dimethyl-K4 specific) [GO:0034648]; histone demethylase activity (H3-monomethyl-K4 specific) [GO:0034649]; oxidoreductase activity [GO:0016491]; zinc ion binding [GO:0008270]; DNA methylation involved in gamete generation [GO:0043046]; histone H3-K4 demethylation [GO:0034720]; multicellular organism development [GO:0007275]; protein deubiquitination [GO:0016579]; regulation of DNA methylation [GO:0044030]; regulation of gene expression by genetic imprinting [GO:0006349]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q8NB78-1; Sequence=Displayed; Name=2; IsoId=Q8NB78-2; Sequence=VSP_019964, VSP_019965; Note=No experimental confirmation available.; Name=4; IsoId=Q8NB78-4; Sequence=VSP_019963; Note=No experimental confirmation available.; 


uniprotID: Q06136
geneSymbol: KDSR
reactome: R-HSA-1660661;
length: 332
go: ENSG00000119537;
snps: rs1114167452
name:
3-ketodihydrosphingosine reductase (KDS reductase) (EC 1.1.1.102) (3-dehydrosphinganine reductase) (Follicular variant translocation protein 1) (FVT-1) (Short chain dehydrogenase/reductase family 35C member 1)

sequence:

opentargets:
endoplasmic reticulum [GO:0005783]; endoplasmic reticulum membrane [GO:0005789]; extracellular space [GO:0005615]; integral component of membrane [GO:0016021]; membrane [GO:0016020]; 3-dehydrosphinganine reductase activity [GO:0047560]; 3-keto-sphinganine metabolic process [GO:0006666]; sphingolipid biosynthetic process [GO:0030148]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q06136-1; Sequence=Displayed; Name=2; IsoId=Q06136-2; Sequence=VSP_056641; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Endoplasmic reticulum membrane {ECO:0000269|PubMed:15328338}; Multi-pass membrane protein {ECO:0000269|PubMed:15328338}.


uniprotID: Q9Y2Y9
geneSymbol: KLF13
length: 288
go: ENSG00000169926;
location: SUBCELLULAR LOCATION: Nucleus.
name:
Krueppel-like factor 13 (Basic transcription element-binding protein 3) (BTE-binding protein 3) (Novel Sp1-like zinc finger transcription factor 1) (RANTES factor of late activated T-lymphocytes 1) (RFLAT-1) (Transcription factor BTEB3) (Transcription factor NSLP1)

sequence:

opentargets:
nucleus [GO:0005634]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; metal ion binding [GO:0046872]; proximal promoter DNA-binding transcription activator activity, RNA polymerase II-specific [GO:0001077]; RNA polymerase II proximal promoter sequence-specific DNA binding [GO:0000978]; negative regulation of cell proliferation [GO:0008285]; negative regulation of erythrocyte differentiation [GO:0045647]; regulation of transcription by RNA polymerase II [GO:0006357]; transcription by RNA polymerase II [GO:0006366]


uniprotID: A0A0C4DH68
geneSymbol: IGKV2-24
name: Immunoglobulin kappa variable 2-24
length: 120
go: ENSG00000241294;
sequence:
MRLLAQLLGLLMLWVPGSSGDIVMTQTPLSSPVTLGQPASISCRSSQSLVHSDGNTYLSWLQQRPGQPPRLLIYKISNRFSGVPDRFSGSGAGTDFTLKISRVEAEDVGVYYCMQATQFP


uniprotID: A0A087WSY6
geneSymbol: IGKV3D-15
name: Immunoglobulin kappa variable 3D-15
length: 115
sequence:
MEAPAQLLFLLLLWLPDTTGEIVMTQSPATLSVSPGERATLSCRASQSVSSNLAWYQQKPGQAPRLLIYGASIRATGIPARFSGSGSGTEFTLTISILQSEDFAVYYCQQYNNWP


uniprotID: Q9BQ66
geneSymbol: KRTAP4-12
length: 201
go: ENSG00000213416;
opentargets: keratin filament [GO:0045095]
name:
Keratin-associated protein 4-12 (Keratin-associated protein 4.12) (Ultrahigh sulfur keratin-associated protein 4.12)

sequence:


uniprotID: Q6ZV70
geneSymbol: LANCL3
name: LanC-like protein 3
length: 420
go: ENSG00000147036;
opentargets: plasma membrane [GO:0005886]; catalytic activity [GO:0003824]
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q6ZV70-1; Sequence=Displayed; Name=2; IsoId=Q6ZV70-2; Sequence=VSP_024855; 


uniprotID: Q9GZZ8
geneSymbol: LACRT
name: Extracellular glycoprotein lacritin
length: 138
go: ENSG00000135413;
location: SUBCELLULAR LOCATION: Secreted.
sequence:
MKFTTLLFLAAVAGALVYAEDASSDSTGADPAQEAGTSKPNEEISGPAEPASPPETTTTAQETSAAAVQGTAKVTSSRQELNPLKSIVEKSILLTEQALAKAGKGMHGGVPGGKQFIENGSEFAQKLLKKFSLLKPWA

opentargets:
extracellular region [GO:0005576]; extracellular space [GO:0005615]; secretory granule [GO:0030141]; collagen binding [GO:0005518]; fibronectin binding [GO:0001968]; growth factor activity [GO:0008083]; laminin-1 binding [GO:0043237]; protein N-terminus binding [GO:0047485]; calcineurin-NFAT signaling cascade [GO:0033173]; calcium-mediated signaling [GO:0019722]; defense response to bacterium [GO:0042742]; epithelial structure maintenance [GO:0010669]; negative regulation of apoptotic process [GO:0043066]; negative regulation of lipopolysaccharide-mediated signaling pathway [GO:0031665]; positive regulation of calcineurin-NFAT signaling cascade [GO:0070886]; positive regulation of calcium-mediated signaling [GO:0050850]; positive regulation of cell proliferation [GO:0008284]; positive regulation of epithelial cell proliferation [GO:0050679]; positive regulation of epithelial cell proliferation involved in wound healing [GO:0060054]; positive regulation of macroautophagy [GO:0016239]; positive regulation of peptidyl-tyrosine phosphorylation [GO:0050731]; positive regulation of release of sequestered calcium ion into cytosol [GO:0051281]; positive regulation of secretion [GO:0051047]; protein acetylation [GO:0006473]; protein localization to Golgi apparatus [GO:0034067]; tear secretion [GO:0070075]


uniprotID: Q5T7P2
geneSymbol: LCE1A
reactome: R-HSA-6809371;
name: Late cornified envelope protein 1A (Late envelope protein 1)
length: 110
go: ENSG00000186844;
sequence:
MSCQQSQQQCQPPPKCTPKCPPKCPTPKCPPKCPPKCPPVSSCCSVSSGGCCGSSSGGGCSSGGGGCCLSHHRRHRSHRHRLQSSGCCSQPSGGSSCCGGDSGQHSGGCC

opentargets:
cornified envelope [GO:0001533]; cytoplasm [GO:0005737]; cytosol [GO:0005829]; structural molecule activity [GO:0005198]; cornification [GO:0070268]; keratinocyte differentiation [GO:0030216]; peptide cross-linking [GO:0018149]


uniprotID: Q15349
geneSymbol: RPS6KA2
reactome: R-HSA-198753;R-HSA-199920;R-HSA-2559582;R-HSA-437239;R-HSA-442742;R-HSA-444257;R-HSA-881907;
length: 733
go: ENSG00000071242;
snps: rs267600891 rs376029388
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:7623830}. Cytoplasm {ECO:0000269|PubMed:7623830}.
name:
Ribosomal protein S6 kinase alpha-2 (S6K-alpha-2) (EC 2.7.11.1) (90 kDa ribosomal protein S6 kinase 2) (p90-RSK 2) (p90RSK2) (MAP kinase-activated protein kinase 1c) (MAPK-activated protein kinase 1c) (MAPKAP kinase 1c) (MAPKAPK-1c) (Ribosomal S6 kinase 3) (RSK-3) (pp90RSK3)

sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; ATP binding [GO:0005524]; kinase activity [GO:0016301]; magnesium ion binding [GO:0000287]; protein serine/threonine kinase activity [GO:0004674]; protein serine/threonine/tyrosine kinase activity [GO:0004712]; ribosomal protein S6 kinase activity [GO:0004711]; intracellular signal transduction [GO:0035556]; negative regulation of cell cycle [GO:0045786]; negative regulation of cell proliferation [GO:0008285]; positive regulation of apoptotic process [GO:0043065]; signal transduction [GO:0007165]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q15349-1; Sequence=Displayed; Name=2; IsoId=Q15349-2; Sequence=VSP_017732; Note=No experimental confirmation available.; Name=3; IsoId=Q15349-3; Sequence=VSP_041836; 


uniprotID: P02795
geneSymbol: MT2A
reactome: R-HSA-5661231;R-HSA-877300;
pdb: 1MHU;2MHU;
name: Metallothionein-2 (MT-2) (Metallothionein-2A) (Metallothionein-II) (MT-II)
sequence: MDPNCSCAAGDSCTCAGSCKCKECKCTSCKKSCCSCCPVGCAKCAQGCICKGASDKCSCCA
length: 61
go: ENSG00000125148;
drug: DB00958;DB00515;DB00526;
snps: rs35109646
opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; nucleus [GO:0005634]; perinuclear region of cytoplasm [GO:0048471]; drug binding [GO:0008144]; metal ion binding [GO:0046872]; zinc ion binding [GO:0008270]; cellular copper ion homeostasis [GO:0006878]; cellular response to cadmium ion [GO:0071276]; cellular response to copper ion [GO:0071280]; cellular response to drug [GO:0035690]; cellular response to erythropoietin [GO:0036018]; cellular response to interleukin-3 [GO:0036016]; cellular response to zinc ion [GO:0071294]; cellular zinc ion homeostasis [GO:0006882]; detoxification of copper ion [GO:0010273]; interferon-gamma-mediated signaling pathway [GO:0060333]; negative regulation of growth [GO:0045926]; response to metal ion [GO:0010038]


uniprotID: Q8NCW0
geneSymbol: KREMEN2
reactome: R-HSA-201681;R-HSA-3772470;R-HSA-5339717;
length: 462
go: ENSG00000131650;
snps: rs11866302
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Single-pass type I membrane protein {ECO:0000305}.
name:
Kremen protein 2 (Dickkopf receptor 2) (Kringle domain-containing transmembrane protein 2) (Kringle-containing protein marking the eye and the nose)

sequence:

opentargets:
early endosome membrane [GO:0031901]; integral component of membrane [GO:0016021]; plasma membrane [GO:0005886]; limb development [GO:0060173]; negative regulation of canonical Wnt signaling pathway [GO:0090090]; negative regulation of ossification [GO:0030279]; Wnt signaling pathway [GO:0016055]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=6;  Name=1 {ECO:0000305}; IsoId=Q8NCW0-1; Sequence=Displayed; Name=2 {ECO:0000305}; Synonyms=Kremen2a; IsoId=Q8NCW0-2; Sequence=VSP_050509, VSP_050510; Name=3 {ECO:0000305}; Synonyms=Kremen2b; IsoId=Q8NCW0-3; Sequence=VSP_050511, VSP_050512; Name=4 {ECO:0000305}; Synonyms=Kremen2c; IsoId=Q8NCW0-4; Sequence=VSP_050513, VSP_050514; Name=5; IsoId=Q8NCW0-5; Sequence=VSP_046399; Note=No experimental confirmation available.; Name=6; IsoId=Q8NCW0-6; Sequence=VSP_046399, VSP_047386; Note=No experimental confirmation available.; 


uniprotID: Q6VAB6
geneSymbol: KSR2
reactome: R-HSA-5674135;R-HSA-6802946;R-HSA-6802948;R-HSA-6802949;R-HSA-6802952;R-HSA-6802955;
pdb: 2Y4I;5KKR;
name: Kinase suppressor of Ras 2 (hKSR2) (EC 2.7.11.1)
length: 950
go: ENSG00000171435;
sequence:

opentargets:
cytosol [GO:0005829]; plasma membrane [GO:0005886]; ATP binding [GO:0005524]; metal ion binding [GO:0046872]; protein serine/threonine kinase activity [GO:0004674]; calcium-mediated signaling [GO:0019722]; positive regulation of cold-induced thermogenesis [GO:0120162]; Ras protein signal transduction [GO:0007265]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q6VAB6-1; Sequence=Displayed; Name=2; IsoId=Q6VAB6-2; Sequence=VSP_012234, VSP_012235, VSP_012236, VSP_012237; 


uniprotID: Q86YQ2
geneSymbol: BPIFA4P
length: 179
location: SUBCELLULAR LOCATION: Secreted.
name:
Putative BPIFA4P protein (BPI fold containing family A, member 4, pseudogene) (Breast cancer and salivary gland-expressed protein) (Putative latherin)

sequence:
MLNVSGLFVLLCGLLVSSSAQEVLAGVSSQLLNDLTQGLLRADFLPSLQTTGLQKPLSSAFDGVSGLLDIFGPPLTNEINTVSIQVKNPQLLHVSIESTPQRKEATVQVPFTSELIVQLLTMKPFTANMQSDIKVQIRLEKNVGGRYELAFGNCRLLPEAIWIQTGVQLAPAQNLLWQT

opentargets:
extracellular region [GO:0005576]; lipid binding [GO:0008289]; regulation of liquid surface tension [GO:0050828]


uniprotID: Q13753
geneSymbol: LAMC2
reactome: R-HSA-1474228;R-HSA-2022090;R-HSA-2214320;R-HSA-3000157;R-HSA-3000171;R-HSA-446107;R-HSA-8874081;
length: 1193
go: ENSG00000058085;
snps: rs12065473 rs17481405 rs11586699 rs12037099 rs2296306 rs4373715 rs2296303
name:
Laminin subunit gamma-2 (Cell-scattering factor 140 kDa subunit) (CSF 140 kDa subunit) (Epiligrin subunit gamma) (Kalinin subunit gamma) (Kalinin/nicein/epiligrin 100 kDa subunit) (Ladsin 140 kDa subunit) (Laminin B2t chain) (Laminin-5 subunit gamma) (Large adhesive scatter factor 140 kDa subunit) (Nicein subunit gamma)

sequence:

opentargets:
cell cortex [GO:0005938]; collagen-containing extracellular matrix [GO:0062023]; extracellular region [GO:0005576]; extracellular space [GO:0005615]; laminin-2 complex [GO:0005607]; membrane [GO:0016020]; perinuclear region of cytoplasm [GO:0048471]; extracellular matrix structural constituent [GO:0005201]; heparin binding [GO:0008201]; basement membrane assembly [GO:0070831]; cell adhesion [GO:0007155]; epidermis development [GO:0008544]; extracellular matrix organization [GO:0030198]; hemidesmosome assembly [GO:0031581]; positive regulation of cell migration [GO:0030335]; positive regulation of cell proliferation [GO:0008284]; system development [GO:0048731]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=Long; IsoId=Q13753-1; Sequence=Displayed; Name=Short; IsoId=Q13753-2; Sequence=VSP_003040; 


uniprotID: P0C7H8
geneSymbol: KRTAP2-3
reactome: R-HSA-6805567;
length: 128
go: ENSG00000212724;ENSG00000213417;
opentargets: cytosol [GO:0005829]; keratin filament [GO:0045095]; keratinization [GO:0031424]
name:
Keratin-associated protein 2-3 (High sulfur keratin-associated protein 2.4) (Keratin-associated protein 2.3)

sequence:
MTGSCCGSTLSSLSYGGGCCQPCCCRDPCCCRPVTCQTTVCRPVTCVPRCTRPICEPCRRPVCCDPCSLQEGCCRPITCCPSSCTAVVCRPCCWATTCCQPVSVQSPCCRPPCGQPTPCSTTCRTSSC


uniprotID: P30613
geneSymbol: PKLR
reactome: R-HSA-163765;R-HSA-210745;R-HSA-70171;
pdb: 2VGB;2VGF;2VGG;2VGI;4IMA;4IP7;
length: 574
go: ENSG00000143627;
drug: DB02726;DB00119;
name:
Pyruvate kinase PKLR (EC 2.7.1.40) (Pyruvate kinase 1) (Pyruvate kinase isozymes L/R) (R-type/L-type pyruvate kinase) (Red cell/liver pyruvate kinase)

sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; extracellular exosome [GO:0070062]; ATP binding [GO:0005524]; kinase activity [GO:0016301]; magnesium ion binding [GO:0000287]; potassium ion binding [GO:0030955]; pyruvate kinase activity [GO:0004743]; canonical glycolysis [GO:0061621]; cellular response to epinephrine stimulus [GO:0071872]; cellular response to insulin stimulus [GO:0032869]; glycolytic process [GO:0006096]; response to ATP [GO:0033198]; response to cAMP [GO:0051591]; response to glucose [GO:0009749]; response to heat [GO:0009408]; response to hypoxia [GO:0001666]; response to lithium ion [GO:0010226]

snps:
rs118204087 rs1484388413 rs750857114 rs918627824 rs118204089 rs574051756 rs780192373 rs118204083 rs757359024 rs200572803 rs147659527 rs747549978 rs766353400 rs981505482 rs549295725 rs138476691 rs773893686 rs773626254 rs1167329263 rs1240481888 rs779152555 rs138871700 rs765903674 rs981579065 rs74315362 rs147034239 rs776594413 rs1035640530 rs118204084 rs768002493 rs1023689443 rs762591322 rs755522396 rs752034960 rs750540943 rs759466273 rs118204085 rs116100695 rs369183199 rs200133000 rs141560532 rs551883218 rs758327704 rs185753709 rs8177988 rs113403872 rs758278200 rs201255024 rs370316462 rs61755431 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=R-type; Synonyms=PKR; IsoId=P30613-1; Sequence=Displayed; Name=L-type; Synonyms=PKL; IsoId=P30613-2; Sequence=VSP_002883; 


uniprotID: P01597
geneSymbol: IGKV1-39
pdb: 1DGX;1F6L;3UPA;
length: 117
go: ENSG00000242371;ENSG00000251546;
name:
Immunoglobulin kappa variable 1-39 (Ig kappa chain V-I region DEE) (Ig kappa chain V-I region Hau) (Ig kappa chain V-I region Mev) (Ig kappa chain V-I region OU) (Ig kappa chain V-I region Walker)

sequence:
MDMRVPAQLLGLLLLWLRGARCDIQMTQSPSSLSASVGDRVTITCRASQSISSYLNWYQQKPGKAPKLLIYAASSLQSGVPSRFSGSGSGTDFTLTISSLQPEDFATYYCQQSYSTP


uniprotID: Q9BYE3
geneSymbol: LCE3D
reactome: R-HSA-6809371;
sequence: MSCQQNQQQCQPPPKCPSPKCPPKSPVQCLPPASSGCAPSSGGCGPSSEGGCFLNHHRRHHRCRRQRPNSCDRGSGQQGGGSGCGHGSGGCC
length: 92
go: ENSG00000163202;
snps: rs512208 rs57201979
name:
Late cornified envelope protein 3D (Late envelope protein 16) (Small proline-rich-like epidermal differentiation complex protein 6A) (Small proline-rich-like epidermal differentiation complex protein 6B)

opentargets:
cornified envelope [GO:0001533]; cytoplasm [GO:0005737]; cytosol [GO:0005829]; structural molecule activity [GO:0005198]; cornification [GO:0070268]; keratinocyte differentiation [GO:0030216]; peptide cross-linking [GO:0018149]


uniprotID: O95232
geneSymbol: LUC7L3
length: 432
go: ENSG00000108848;
name:
Luc7-like protein 3 (Cisplatin resistance-associated-overexpressed protein) (Luc7A) (Okadaic acid-inducible phosphoprotein OA48-18) (cAMP regulatory element-associated protein 1) (CRE-associated protein 1) (CREAP-1)

sequence:

opentargets:
nuclear speck [GO:0016607]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; U1 snRNP [GO:0005685]; U2-type prespliceosome [GO:0071004]; DNA binding [GO:0003677]; mRNA binding [GO:0003729]; RNA binding [GO:0003723]; mRNA splice site selection [GO:0006376]; RNA splicing [GO:0008380]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=O95232-1; Sequence=Displayed; Name=2; IsoId=O95232-2; Sequence=VSP_018136, VSP_018137; Note=May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay. No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Nucleus speckle {ECO:0000269|PubMed:10631324, ECO:0000269|PubMed:12565863}. Note=The subnuclear localization is affected by cisplatin.


uniprotID: P01601
geneSymbol: IGKV1D-16
length: 117
go: ENSG00000241244;
name:
Immunoglobulin kappa variable 1D-16 (Ig kappa chain V-I region HK146) (Ig kappa chain V-I region HK189)

sequence:
MDMRVLAQLLGLLLLCFPGARCDIQMTQSPSSLSASVGDRVTITCRASQGISSWLAWYQQKPEKAPKSLIYAASSLQSGVPSRFSGSGSGTDFTLTISSLQPEDFATYYCQQYNSYP


uniprotID: Q6UX15
geneSymbol: LAYN
name: Layilin
length: 382
go: ENSG00000204381;
drug: DB08818;
snps: rs11827718
sequence:

opentargets:
cell surface [GO:0009986]; focal adhesion [GO:0005925]; integral component of membrane [GO:0016021]; ruffle [GO:0001726]; carbohydrate binding [GO:0030246]; hyaluronic acid binding [GO:0005540]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q6UX15-1; Sequence=Displayed; Name=2; IsoId=Q6UX15-2; Sequence=VSP_021781; Name=3; IsoId=Q6UX15-3; Sequence=VSP_054660, VSP_054661; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Single-pass type I membrane protein {ECO:0000305}. Note=Colocalizes with TLN1 at the membrane ruffles. {ECO:0000250}.


uniprotID: A0A0A0MRZ7
geneSymbol: IGKV2D-26
name: Immunoglobulin kappa variable 2D-26
length: 120
go: ENSG00000211623;
sequence:
MRLPAQLLGLLMLWVPGSSAEIVMTQTPLSLSITPGEQASMSCRSSQSLLHSDGYTYLYWFLQKARPVSTLLIYEVSNRFSGVPDRFSGSGSGTDFTLKISRVEAEDFGVYYCMQDAQDP


uniprotID: Q4FZB7
geneSymbol: KMT5B
reactome: R-HSA-3214841;
pdb: 3S8P;5CPR;5WBV;
length: 885
snps: rs2512606
name:
Histone-lysine N-methyltransferase KMT5B (EC 2.1.1.43) (Lysine N-methyltransferase 5B) (Lysine-specific methyltransferase 5B) (Suppressor of variegation 4-20 homolog 1) (Su(var)4-20 homolog 1) (Suv4-20h1)

sequence:

opentargets:
condensed nuclear chromosome, centromeric region [GO:0000780]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; histone methyltransferase activity (H4-K20 specific) [GO:0042799]; histone-lysine N-methyltransferase activity [GO:0018024]; histone H4-K20 trimethylation [GO:0034773]; muscle organ development [GO:0007517]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q4FZB7-1; Sequence=Displayed; Name=2; IsoId=Q4FZB7-2; Sequence=VSP_024051, VSP_024052; Name=3; IsoId=Q4FZB7-4; Sequence=VSP_040034, VSP_040035; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:23720823}. Chromosome {ECO:0000250}. Note=Associated with pericentric heterochromatin. CBX1 and CBX5 are required for the localization to pericentric heterochromatin (By similarity). {ECO:0000250}.


uniprotID: Q5VSP4
geneSymbol: LCN1P1
name: Putative lipocalin 1-like protein 1 (Lipocalin 1-like pseudogene 1)
length: 162
opentargets: extracellular space [GO:0005615]; small molecule binding [GO:0036094]
location: SUBCELLULAR LOCATION: Secreted {ECO:0000250}.
sequence:
MKPLLLAISLSLIAALQAHHLLASDEEIQDVSGTWYLKAMTVDRELPEMNLESVTPMTLTILEGGNLEAKATMLISGQCQEVKVILEKTDEPGKYTANRGKHVAYIIRSHMKDHYIFYCEGRDPENNLEALEDFEKAAGARGLSTESILIPRQSETCSPGSD


uniprotID: Q8N370
geneSymbol: SLC43A2
reactome: R-HSA-352230;
length: 569
go: ENSG00000167703;
location: SUBCELLULAR LOCATION: Membrane {ECO:0000250}; Multi-pass membrane protein {ECO:0000250}.
name:
Large neutral amino acids transporter small subunit 4 (L-type amino acid transporter 4) (Solute carrier family 43 member 2)

sequence:

opentargets:
integral component of membrane [GO:0016021]; plasma membrane [GO:0005886]; amino acid transmembrane transporter activity [GO:0015171]; L-amino acid transmembrane transporter activity [GO:0015179]; neutral amino acid transmembrane transporter activity [GO:0015175]; amino acid transport [GO:0006865]; neutral amino acid transport [GO:0015804]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=Q8N370-1; Sequence=Displayed; Name=2; IsoId=Q8N370-2; Sequence=VSP_028665, VSP_028666; Name=3; IsoId=Q8N370-3; Sequence=VSP_028664; Name=4; IsoId=Q8N370-4; Sequence=VSP_055373, VSP_055374; Note=No experimental confirmation available.; 


uniprotID: Q3ZCW2
geneSymbol: LGALSL
pdb: 2JJ6;3B9C;
name: Galectin-related protein (Galectin-like protein) (Lectin galactoside-binding-like protein)
length: 172
go: ENSG00000119862;
opentargets: intracellular [GO:0005622]; carbohydrate binding [GO:0030246]
sequence:
MAGSVADSDAVVKLDDGHLNNSLSSPVQADVYFPRLIVPFCGHIKGGMRPGKKVLVMGIVDLNPESFAISLTCGDSEDPPADVAIELKAVFTDRQLLRNSCISGERGEEQSAIPYFPFIPDQPFRVEILCEHPRFRVFVDGHQLFDFYHRIQTLSAIDTIKINGDLQITKLG


uniprotID: P24043
geneSymbol: LAMA2
reactome: R-HSA-3000157;R-HSA-3000171;R-HSA-3000178;R-HSA-8874081;
pdb: 4YEP;4YEQ;
length: 3122
go: ENSG00000196569;
name:
Laminin subunit alpha-2 (Laminin M chain) (Laminin-12 subunit alpha) (Laminin-2 subunit alpha) (Laminin-4 subunit alpha) (Merosin heavy chain)

sequence:

opentargets:
basement membrane [GO:0005604]; collagen-containing extracellular matrix [GO:0062023]; dendritic spine [GO:0043197]; extracellular region [GO:0005576]; neuromuscular junction [GO:0031594]; sarcolemma [GO:0042383]; synaptic cleft [GO:0043083]; extracellular matrix structural constituent [GO:0005201]; signaling receptor binding [GO:0005102]; structural molecule activity [GO:0005198]; axon guidance [GO:0007411]; cell adhesion [GO:0007155]; extracellular matrix organization [GO:0030198]; muscle organ development [GO:0007517]; positive regulation of synaptic transmission, cholinergic [GO:0032224]; regulation of cell adhesion [GO:0030155]; regulation of cell migration [GO:0030334]; regulation of embryonic development [GO:0045995]; Schwann cell differentiation [GO:0014037]

snps:
rs34626728 rs3778142 rs121913574 rs118083923 rs3816665 rs35879899 rs121913573 rs35277491 rs2306942 rs35889149 rs4143752 rs3828736 rs121913570 rs2229848 rs2244008 rs886039896 rs34551216 


uniprotID: Q8N5S9
geneSymbol: CAMKK1
reactome: R-HSA-442717;
pdb: 6CCF;6CD6;
length: 505
go: ENSG00000004660;
snps: rs7214723
location: SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250}. Nucleus {ECO:0000250}.
name:
Calcium/calmodulin-dependent protein kinase kinase 1 (CaM-KK 1) (CaM-kinase kinase 1) (CaMKK 1) (EC 2.7.11.17) (CaM-kinase IV kinase) (Calcium/calmodulin-dependent protein kinase kinase alpha) (CaM-KK alpha) (CaM-kinase kinase alpha) (CaMKK alpha)

sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; nucleus [GO:0005634]; ATP binding [GO:0005524]; calmodulin binding [GO:0005516]; calmodulin-dependent protein kinase activity [GO:0004683]; protein serine/threonine kinase activity [GO:0004674]; intracellular signal transduction [GO:0035556]; positive regulation of protein kinase activity [GO:0045860]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; Synonyms=A, Variant 3; IsoId=Q8N5S9-1; Sequence=Displayed; Name=2; Synonyms=B, Variant 1; IsoId=Q8N5S9-2; Sequence=VSP_012140, VSP_012141; 


uniprotID: Q6PF15
geneSymbol: KLHL35
name: Kelch-like protein 35
length: 583
go: ENSG00000149243;
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q6PF15-1; Sequence=Displayed; Name=2; IsoId=Q6PF15-2; Sequence=VSP_034783, VSP_034784, VSP_034785; 


uniprotID: Q9P2N7
geneSymbol: KLHL13
reactome: R-HSA-8951664;R-HSA-983168;
name: Kelch-like protein 13 (BTB and kelch domain-containing protein 2)
length: 655
go: ENSG00000003096;
snps: rs141912385
sequence:

opentargets:
Cul3-RING ubiquitin ligase complex [GO:0031463]; cytosol [GO:0005829]; midbody [GO:0030496]; cell cycle [GO:0007049]; cell division [GO:0051301]; post-translational protein modification [GO:0043687]; protein ubiquitination [GO:0016567]; regulation of cytokinesis [GO:0032465]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=5;  Name=1; IsoId=Q9P2N7-1; Sequence=Displayed; Name=2; IsoId=Q9P2N7-2; Sequence=VSP_037530; Name=3; IsoId=Q9P2N7-3; Sequence=VSP_037531; Name=4; IsoId=Q9P2N7-4; Sequence=VSP_037532; Name=5; IsoId=Q9P2N7-5; Sequence=VSP_037533; 


uniprotID: Q6UWL6
geneSymbol: KIRREL2
reactome: R-HSA-373753;
name: Kin of IRRE-like protein 2 (Kin of irregular chiasm-like protein 2) (Nephrin-like protein 3)
length: 708
snps: rs446014 rs404299 rs35423326 rs35775934 rs382789
sequence:

opentargets:
cell-cell junction [GO:0005911]; integral component of membrane [GO:0016021]; plasma membrane [GO:0005886]; slit diaphragm [GO:0036057]; identical protein binding [GO:0042802]; cell adhesion [GO:0007155]; cell-cell adhesion [GO:0098609]; negative regulation of protein phosphorylation [GO:0001933]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=Q6UWL6-1; Sequence=Displayed; Name=2; Synonyms=Kirrel2a; IsoId=Q6UWL6-2; Sequence=VSP_011784, VSP_011785; Name=3; Synonyms=Kirrel2b; IsoId=Q6UWL6-3; Sequence=VSP_011780, VSP_011784, VSP_011785; Name=5; Synonyms=Kirrel2c; IsoId=Q6UWL6-5; Sequence=VSP_011781, VSP_011783; 

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000250|UniProtKB:Q7TSU7}; Single-pass type I membrane protein {ECO:0000255}. Note=Localized along the sites of the cell contacts. Colocalizes with E-Cadherin and beta-catenin. {ECO:0000250|UniProtKB:Q7TSU7}.


uniprotID: P78386
geneSymbol: KRT85
reactome: R-HSA-6805567;R-HSA-6809371;
length: 507
go: ENSG00000135443;
snps: rs61630004 rs2852471
name:
Keratin, type II cuticular Hb5 (Hair keratin K2.12) (Keratin-85) (K85) (Type II hair keratin Hb5) (Type-II keratin Kb25)

sequence:

opentargets:
cytosol [GO:0005829]; extracellular space [GO:0005615]; keratin filament [GO:0045095]; structural molecule activity [GO:0005198]; cornification [GO:0070268]; epidermis development [GO:0008544]; keratinization [GO:0031424]


uniprotID: P51812
geneSymbol: RPS6KA3
reactome: R-HSA-198753;R-HSA-199920;R-HSA-2559582;R-HSA-437239;R-HSA-442742;R-HSA-444257;R-HSA-881907;
pdb: 4D9T;4D9U;4JG6;4JG7;4JG8;4NUS;4NW5;4NW6;5D9K;5D9L;
length: 740
go: ENSG00000177189;
drug: DB00945;
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000250}. Cytoplasm {ECO:0000250}.
name:
Ribosomal protein S6 kinase alpha-3 (S6K-alpha-3) (EC 2.7.11.1) (90 kDa ribosomal protein S6 kinase 3) (p90-RSK 3) (p90RSK3) (Insulin-stimulated protein kinase 1) (ISPK-1) (MAP kinase-activated protein kinase 1b) (MAPK-activated protein kinase 1b) (MAPKAP kinase 1b) (MAPKAPK-1b) (Ribosomal S6 kinase 2) (RSK-2) (pp90RSK2)

sequence:

opentargets:
cytosol [GO:0005829]; nucleoplasm [GO:0005654]; ATP binding [GO:0005524]; cysteine-type endopeptidase inhibitor activity involved in apoptotic process [GO:0043027]; kinase activity [GO:0016301]; magnesium ion binding [GO:0000287]; protein kinase activity [GO:0004672]; protein kinase binding [GO:0019901]; protein serine/threonine kinase activity [GO:0004674]; ribosomal protein S6 kinase activity [GO:0004711]; cell cycle [GO:0007049]; central nervous system development [GO:0007417]; intracellular signal transduction [GO:0035556]; negative regulation of apoptotic process [GO:0043066]; negative regulation of cysteine-type endopeptidase activity involved in apoptotic process [GO:0043154]; peptidyl-serine phosphorylation [GO:0018105]; positive regulation of cell differentiation [GO:0045597]; positive regulation of cell growth [GO:0030307]; positive regulation of transcription by RNA polymerase II [GO:0045944]; regulation of DNA-templated transcription in response to stress [GO:0043620]; regulation of translation in response to stress [GO:0043555]; response to lipopolysaccharide [GO:0032496]; signal transduction [GO:0007165]; skeletal system development [GO:0001501]; toll-like receptor signaling pathway [GO:0002224]

snps:
rs56218010 rs122454124 rs122454126 rs122454127 rs387906703 rs122454130 rs879027948 rs122454125 rs122454131 rs122454129 rs148050184 rs1271090915 rs35026425 rs28935171 


uniprotID: A8MVA2
geneSymbol: KRTAP9-6
reactome: R-HSA-6805567;
name: Keratin-associated protein 9-6 (Keratin-associated protein 9-like 2)
length: 160
opentargets: cytosol [GO:0005829]; keratin filament [GO:0045095]; keratinization [GO:0031424]
snps: rs12938692
sequence:
MTHCCSPGCQPTCCRTTCCRTTCWQPTIVTTCSSTPCCQPSCCVSSCCQPYCHPTCCQNTCCRTTCCQPTCVTSCCQPSCCSTPCYQPICCGSSCCGQTSCGSSCGQSSSCAPVYCRRTCYHPTTVCLPGCLNQSCGSSCCQPCYCPACCVSSCCQHSCC


uniprotID: P01611
geneSymbol: IGKV1D-12
name: Immunoglobulin kappa variable 1D-12 (Ig kappa chain V-I region Wes)
length: 117
sequence:
MDMMVPAQLLGLLLLWFPGSRCDIQMTQSPSSVSASVGDRVTITCRASQGISSWLAWYQQKPGKAPKLLIYAASSLQSGVPSRFSGSGSGTDFTLTISSLQPEDFATYYCQQANSFP


uniprotID: A0A075B6S4
geneSymbol: IGKV1D-17
name: Immunoglobulin kappa variable 1D-17
length: 117
go: ENSG00000242766;
sequence:
MDMRVPAQLLGLLLLWFPGARCNIQMTQSPSAMSASVGDRVTITCRARQGISNYLAWFQQKPGKVPKHLIYAASSLQSGVPSRFSGSGSGTEFTLTISSLQPEDFATYYCLQHNSYP


uniprotID: P25713
geneSymbol: MT3
reactome: R-HSA-5661231;
pdb: 2F5H;2FJ4;2FJ5;
name: Metallothionein-3 (MT-3) (GIFB) (GIF) (Growth inhibitory factor) (Metallothionein-III) (MT-III)
sequence: MDPETCPCPSGGSCTCADSCKCEGCKCTSCKKSCCSCCPAECEKCAKDCVCKGGEAAEAEAEKCSCCQ
length: 68
go: ENSG00000087250;
opentargets:
astrocyte end-foot [GO:0097450]; axon [GO:0030424]; cytoplasm [GO:0005737]; cytosol [GO:0005829]; dendritic spine [GO:0043197]; extracellular space [GO:0005615]; inclusion body [GO:0016234]; intracellular [GO:0005622]; microtubule [GO:0005874]; mitochondrial outer membrane [GO:0005741]; nucleus [GO:0005634]; perinuclear region of cytoplasm [GO:0048471]; plasma membrane [GO:0005886]; postsynaptic density [GO:0014069]; ribosome [GO:0005840]; rough endoplasmic reticulum [GO:0005791]; synaptic vesicle [GO:0008021]; antioxidant activity [GO:0016209]; cadmium ion binding [GO:0046870]; copper ion binding [GO:0005507]; cysteine-type endopeptidase inhibitor activity involved in apoptotic process [GO:0043027]; drug binding [GO:0008144]; metal ion binding [GO:0046872]; protein kinase activator activity [GO:0030295]; zinc ion binding [GO:0008270]; activation of protein kinase B activity [GO:0032148]; astrocyte development [GO:0014002]; brain development [GO:0007420]; cadmium ion homeostasis [GO:0055073]; cell proliferation [GO:0008283]; cellular lipid catabolic process [GO:0044242]; cellular metal ion homeostasis [GO:0006875]; cellular response to cadmium ion [GO:0071276]; cellular response to copper ion [GO:0071280]; cellular response to drug [GO:0035690]; cellular response to hypoxia [GO:0071456]; cellular response to nitric oxide [GO:0071732]; cellular response to oxidative stress [GO:0034599]; cellular response to zinc ion [GO:0071294]; cellular zinc ion homeostasis [GO:0006882]; cholesterol catabolic process [GO:0006707]; detoxification of copper ion [GO:0010273]; energy reserve metabolic process [GO:0006112]; ERK1 and ERK2 cascade [GO:0070371]; histone modification [GO:0016570]; leptin-mediated signaling pathway [GO:0033210]; negative regulation of apoptotic process [GO:0043066]; negative regulation of autophagy [GO:0010507]; negative regulation of axon extension [GO:0030517]; negative regulation of cell growth [GO:0030308]; negative regulation of cysteine-type endopeptidase activity [GO:2000117]; negative regulation of cysteine-type endopeptidase activity involved in apoptotic process [GO:0043154]; negative regulation of hydrogen peroxide catabolic process [GO:2000296]; negative regulation of necrotic cell death [GO:0060547]; negative regulation of neuron apoptotic process [GO:0043524]; negative regulation of oxidoreductase activity [GO:0051354]; negative regulation of reactive oxygen species metabolic process [GO:2000378]; negative regulation of transcription, DNA-templated [GO:0045892]; positive regulation of catalytic activity [GO:0043085]; positive regulation of cell death [GO:0010942]; positive regulation of ERK1 and ERK2 cascade [GO:0070374]; positive regulation of gene expression [GO:0010628]; positive regulation of lysosomal membrane permeability [GO:0097214]; positive regulation of necrotic cell death [GO:0010940]; positive regulation of oxygen metabolic process [GO:2000376]; positive regulation of protein phosphorylation [GO:0001934]; positive regulation of transcription from RNA polymerase II promoter in response to oxidative stress [GO:0036091]; positive regulation of transcription, DNA-templated [GO:0045893]; positive regulation of vascular endothelial growth factor receptor signaling pathway [GO:0030949]; protein import into nucleus, translocation [GO:0000060]; protein kinase B signaling [GO:0043491]; protein stabilization [GO:0050821]; regulation of protein glycosylation [GO:0060049]; regulation of response to food [GO:0032095]; removal of superoxide radicals [GO:0019430]; response to hypoxia [GO:0001666]; response to metal ion [GO:0010038]; zinc ion homeostasis [GO:0055069]; zinc ion transport [GO:0006829]


uniprotID: O15230
geneSymbol: LAMA5
reactome: R-HSA-1474228;R-HSA-3000157;R-HSA-3000171;R-HSA-3000178;R-HSA-6785807;R-HSA-8874081;
pdb: 5XAU;
length: 3695
go: ENSG00000130702;
name:
Laminin subunit alpha-5 (Laminin-10 subunit alpha) (Laminin-11 subunit alpha) (Laminin-15 subunit alpha)

sequence:

opentargets:
basement membrane [GO:0005604]; collagen-containing extracellular matrix [GO:0062023]; extracellular exosome [GO:0070062]; extracellular region [GO:0005576]; extracellular space [GO:0005615]; laminin-10 complex [GO:0043259]; laminin-11 complex [GO:0043260]; laminin-5 complex [GO:0005610]; neuromuscular junction [GO:0031594]; nucleus [GO:0005634]; synaptic cleft [GO:0043083]; extracellular matrix structural constituent [GO:0005201]; integrin binding [GO:0005178]; angiogenesis [GO:0001525]; branching involved in salivary gland morphogenesis [GO:0060445]; branching involved in ureteric bud morphogenesis [GO:0001658]; cell differentiation [GO:0030154]; cell migration [GO:0016477]; cell proliferation [GO:0008283]; cell recognition [GO:0008037]; cilium assembly [GO:0060271]; cytokine-mediated signaling pathway [GO:0019221]; cytoskeleton organization [GO:0007010]; endothelial cell differentiation [GO:0045446]; extracellular matrix organization [GO:0030198]; focal adhesion assembly [GO:0048041]; hair follicle development [GO:0001942]; integrin-mediated signaling pathway [GO:0007229]; lung development [GO:0030324]; morphogenesis of a polarized epithelium [GO:0001738]; morphogenesis of embryonic epithelium [GO:0016331]; muscle organ development [GO:0007517]; neural crest cell migration [GO:0001755]; odontogenesis of dentin-containing tooth [GO:0042475]; protein localization to plasma membrane [GO:0072659]; regulation of cell adhesion [GO:0030155]; regulation of cell migration [GO:0030334]; regulation of cell proliferation [GO:0042127]; regulation of embryonic development [GO:0045995]; substrate adhesion-dependent cell spreading [GO:0034446]

snps:
rs4925229 rs6062223 rs3810548 rs2427286 rs17750870 rs13039398 rs944893 rs875379 rs2427284 rs2427283 rs11698080 rs6143021 rs3737137 rs2274934 rs2297587 rs944895 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=O15230-1; Sequence=Displayed; Name=2; IsoId=O15230-2; Sequence=VSP_057343, VSP_057344; Note=No experimental confirmation available.; 


uniprotID: A0A0C4DH67
geneSymbol: IGKV1-8
name: Immunoglobulin kappa variable 1-8
length: 115
go: ENSG00000240671;
sequence:
MRVPAQLLGLLLLWLPGARCAIRMTQSPSSFSASTGDRVTITCRASQGISSYLAWYQQKPGKAPKLLIYAASTLQSGVPSRFSGSGSGTDFTLTISCLQSEDFATYYCQQYYSYP


uniprotID: A0A075B6S5
geneSymbol: IGKV1-27
name: Immunoglobulin kappa variable 1-27
length: 117
go: ENSG00000244575;
sequence:
MDMRVPAQLLGLLLLWLPDTRCDIQMTQSPSSLSASVGDRVTITCRASQGISNYLAWYQQKPGKVPKLLIYAASTLQSGVPSRFSGSGSGTDFTLTISSLQPEDVATYYCQKYNSAP


uniprotID: Q96JN0
geneSymbol: LCOR
pdb: 2COB;
name: Ligand-dependent corepressor (LCoR) (Mblk1-related protein 2)
length: 433
go: ENSG00000196233;
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000255|PROSITE-ProRule:PRU00320, ECO:0000269|PubMed:12535528}.
sequence:

opentargets:
nucleoplasm [GO:0005654]; DNA binding [GO:0003677]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; transcription factor binding [GO:0008134]; negative regulation of transcription by RNA polymerase II [GO:0000122]; transcription by RNA polymerase II [GO:0006366]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q96JN0-1; Sequence=Displayed; Name=2; IsoId=Q96JN0-2; Sequence=VSP_018585, VSP_018586; Name=3; IsoId=Q96JN0-3; Sequence=VSP_058760; 


uniprotID: P01615
geneSymbol: IGKV2D-28
pdb: 1DH4;
length: 120
go: ENSG00000244116;
drug: DB08562;
name:
Immunoglobulin kappa variable 2D-28 (Ig kappa chain V-II region FR) (Ig kappa chain V-II region GM607) (Ig kappa chain V-II region MIL) (Ig kappa chain V-II region TEW)

sequence:
MRLPAQLLGLLMLWVSGSSGDIVMTQSPLSLPVTPGEPASISCRSSQSLLHSNGYNYLDWYLQKPGQSPQLLIYLGSNRASGVPDRFSGSGSGTDFTLKISRVEAEDVGVYYCMQALQTP


uniprotID: Q8MH63
geneSymbol: SLC7A5P1
length: 180
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Multi-pass membrane protein {ECO:0000305}.
name:
Putative L-type amino acid transporter 1-like protein MLAS (hLAT1 3-transmembrane protein MLAS) (hLAT1 3TM MLAS)

sequence:
MAGAGPKRRALAAPVAEEKEEAREKMLASKRADGAAPAGEGEGVTLQRNITLLNGVAIIVGAIIGSGIFVTPTGVLKEAGSPGLALVMWAACGVFSIVGALCYAELGTTISKSGGDYAYMLDVYGSLPAFLKLWIELLVIRPSSQYIVALVFATYLLKPLFPSCPVPEEAAKLMACHCVH

opentargets:
integral component of membrane [GO:0016021]; L-amino acid transmembrane transporter activity [GO:0015179]


uniprotID: Q6UWM7
geneSymbol: LCTL
name: Lactase-like protein (Klotho/lactase-phlorizin hydrolase-related protein)
length: 567
go: ENSG00000188501;
drug: DB03430;DB02379;DB02471;DB08430;
snps: rs7179073 rs1030986
sequence:

opentargets:
brush border [GO:0005903]; endoplasmic reticulum [GO:0005783]; endoplasmic reticulum membrane [GO:0005789]; integral component of membrane [GO:0016021]; beta-glucosidase activity [GO:0008422]; carbohydrate metabolic process [GO:0005975]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q6UWM7-1; Sequence=Displayed; Name=2; IsoId=Q6UWM7-2; Sequence=VSP_054596; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Endoplasmic reticulum membrane {ECO:0000250}; Single-pass membrane protein {ECO:0000250}.


uniprotID: Q9UK32
geneSymbol: RPS6KA6
reactome: R-HSA-437239;R-HSA-442742;R-HSA-444257;
length: 745
go: ENSG00000072133;
snps: rs6616890
name:
Ribosomal protein S6 kinase alpha-6 (S6K-alpha-6) (EC 2.7.11.1) (90 kDa ribosomal protein S6 kinase 6) (p90-RSK 6) (p90RSK6) (Ribosomal S6 kinase 4) (RSK-4) (pp90RSK4)

sequence:

opentargets:
cytosol [GO:0005829]; fibrillar center [GO:0001650]; mitochondrion [GO:0005739]; nucleolus [GO:0005730]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; ATP binding [GO:0005524]; kinase activity [GO:0016301]; magnesium ion binding [GO:0000287]; protein kinase activity [GO:0004672]; ribosomal protein S6 kinase activity [GO:0004711]; central nervous system development [GO:0007417]; DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator [GO:0006978]; negative regulation of embryonic development [GO:0045992]; negative regulation of ERK1 and ERK2 cascade [GO:0070373]; negative regulation of mesoderm development [GO:2000381]; signal transduction [GO:0007165]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9UK32-1; Sequence=Displayed; Name=2; IsoId=Q9UK32-2; Sequence=VSP_056181; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasm, cytosol {ECO:0000269|PubMed:15632195}. Nucleus {ECO:0000269|PubMed:15632195}. Note=Predominantly cytosolic.


uniprotID: Q6L8G5
geneSymbol: KRTAP5-10
reactome: R-HSA-6805567;
length: 202
go: ENSG00000204572;
opentargets: cytosol [GO:0005829]; keratin filament [GO:0045095]; keratinization [GO:0031424]
name:
Keratin-associated protein 5-10 (Keratin-associated protein 5.10) (Ultrahigh sulfur keratin-associated protein 5.10)

sequence:


uniprotID: P01602
geneSymbol: IGKV1-5
length: 117
go: ENSG00000243466;
name:
Immunoglobulin kappa variable 1-5 (Ig kappa chain V-I region CAR) (Ig kappa chain V-I region EU) (Ig kappa chain V-I region HK102) (Ig kappa chain V-I region Kue)

sequence:
MDMRVPAQLLGLLLLWLPGAKCDIQMTQSPSTLSASVGDRVTITCRASQSISSWLAWYQQKPGKAPKLLIYKASSLESGVPSRFSGSGSGTEFTLTISSLQPDDFATYYCQQYNSYS


uniprotID: P11279
geneSymbol: LAMP1
reactome: R-HSA-6798695;
length: 417
go: ENSG00000185896;
snps: rs9577230
name:
Lysosome-associated membrane glycoprotein 1 (LAMP-1) (Lysosome-associated membrane protein 1) (CD107 antigen-like family member A) (CD antigen CD107a)

sequence:

opentargets:
alveolar lamellar body [GO:0097208]; autolysosome [GO:0044754]; azurophil granule membrane [GO:0035577]; cytolytic granule [GO:0044194]; cytoplasm [GO:0005737]; cytosol [GO:0005829]; dendrite [GO:0030425]; endosome membrane [GO:0010008]; external side of plasma membrane [GO:0009897]; extracellular exosome [GO:0070062]; ficolin-1-rich granule membrane [GO:0101003]; integral component of plasma membrane [GO:0005887]; integral component of synaptic vesicle membrane [GO:0030285]; late endosome [GO:0005770]; lysosomal membrane [GO:0005765]; lysosome [GO:0005764]; melanosome [GO:0042470]; membrane [GO:0016020]; multivesicular body [GO:0005771]; neuronal cell body [GO:0043025]; perinuclear region of cytoplasm [GO:0048471]; phagolysosome membrane [GO:0061474]; plasma membrane [GO:0005886]; sarcolemma [GO:0042383]; enzyme binding [GO:0019899]; protein domain specific binding [GO:0019904]; virus receptor activity [GO:0001618]; autophagic cell death [GO:0048102]; establishment of protein localization to organelle [GO:0072594]; Golgi to lysosome transport [GO:0090160]; granzyme-mediated apoptotic signaling pathway [GO:0008626]; neutrophil degranulation [GO:0043312]; positive regulation of natural killer cell degranulation [GO:0043323]; positive regulation of natural killer cell mediated cytotoxicity [GO:0045954]; protein stabilization [GO:0050821]; regulation of organelle transport along microtubule [GO:1902513]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P11279-1; Sequence=Displayed; Name=2; IsoId=P11279-2; Sequence=VSP_056032; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000250|UniProtKB:P05300}; Single-pass type I membrane protein {ECO:0000255}. Endosome membrane; Single-pass type I membrane protein {ECO:0000255}. Lysosome membrane {ECO:0000269|PubMed:16176980, ECO:0000269|PubMed:17897319}; Single-pass type I membrane protein {ECO:0000255}. Late endosome {ECO:0000269|PubMed:16176980}. Note=This protein shuttles between lysosomes, endosomes, and the plasma membrane (By similarity). Colocalizes with OSBPL1A at the late endosome (PubMed:16176980). {ECO:0000250|UniProtKB:P05300, ECO:0000269|PubMed:16176980, ECO:0000269|PubMed:17897319}.


uniprotID: O75840
geneSymbol: KLF7
name: Krueppel-like factor 7 (Ubiquitous krueppel-like factor)
length: 302
go: ENSG00000118263;
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000305}.
sequence:

opentargets:
nucleus [GO:0005634]; DNA-binding transcription factor activity [GO:0003700]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; proximal promoter DNA-binding transcription activator activity, RNA polymerase II-specific [GO:0001077]; RNA polymerase II proximal promoter sequence-specific DNA binding [GO:0000978]; transcription coactivator activity [GO:0003713]; zinc ion binding [GO:0008270]; axon guidance [GO:0007411]; dendrite morphogenesis [GO:0048813]; positive regulation of transcription by RNA polymerase II [GO:0045944]; regulation of transcription by RNA polymerase II [GO:0006357]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=6;  Name=1; IsoId=O75840-1; Sequence=Displayed; Name=2; IsoId=O75840-2; Sequence=VSP_047030; Name=3; IsoId=O75840-3; Sequence=VSP_047032; Name=4; IsoId=O75840-4; Sequence=VSP_047031; Name=5; IsoId=O75840-5; Sequence=VSP_047478; Name=6; IsoId=O75840-6; Sequence=VSP_047477, VSP_047479; 


uniprotID: A5PL33
geneSymbol: KRBA1
reactome: R-HSA-212436;
name: Protein KRBA1
length: 1030
go: ENSG00000133619;
snps: rs7791608 rs709065
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=A5PL33-1; Sequence=Displayed; Name=2; IsoId=A5PL33-2; Sequence=VSP_027780; Name=3; IsoId=A5PL33-3; Sequence=VSP_027779; 


uniprotID: P05771
geneSymbol: PRKCB
pdb: 2I0E;
name: Protein kinase C beta type (PKC-B) (PKC-beta) (EC 2.7.11.13)
length: 671
go: ENSG00000166501;
drug: DB08846;DB01738;DB00675;DB00163;
snps: rs764534677 rs1466858740 rs35631544
reactome:
R-HSA-114516;R-HSA-1169091;R-HSA-416993;R-HSA-418597;R-HSA-4419969;R-HSA-5099900;R-HSA-5218921;R-HSA-76005;R-HSA-8939246;

sequence:

opentargets:
calyx of Held [GO:0044305]; cytoplasm [GO:0005737]; cytosol [GO:0005829]; extracellular exosome [GO:0070062]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; plasma membrane [GO:0005886]; presynaptic cytosol [GO:0099523]; androgen receptor binding [GO:0050681]; ATP binding [GO:0005524]; calcium channel regulator activity [GO:0005246]; calcium-dependent protein kinase C activity [GO:0004698]; chromatin binding [GO:0003682]; histone binding [GO:0042393]; histone kinase activity (H3-T6 specific) [GO:0035403]; nuclear receptor transcription coactivator activity [GO:0030374]; protein kinase C activity [GO:0004697]; protein kinase C binding [GO:0005080]; protein serine/threonine kinase activity [GO:0004674]; zinc ion binding [GO:0008270]; adaptive immune response [GO:0002250]; apoptotic process [GO:0006915]; B cell activation [GO:0042113]; B cell receptor signaling pathway [GO:0050853]; calcium ion transport [GO:0006816]; cellular calcium ion homeostasis [GO:0006874]; cellular response to carbohydrate stimulus [GO:0071322]; histone H3-T6 phosphorylation [GO:0035408]; intracellular signal transduction [GO:0035556]; lipoprotein transport [GO:0042953]; mitotic nuclear envelope disassembly [GO:0007077]; negative regulation of glucose transmembrane transport [GO:0010829]; negative regulation of insulin receptor signaling pathway [GO:0046627]; peptidyl-serine phosphorylation [GO:0018105]; platelet activation [GO:0030168]; positive regulation of angiogenesis [GO:0045766]; positive regulation of B cell receptor signaling pathway [GO:0050861]; positive regulation of I-kappaB kinase/NF-kappaB signaling [GO:0043123]; positive regulation of NF-kappaB transcription factor activity [GO:0051092]; positive regulation of vascular endothelial growth factor receptor signaling pathway [GO:0030949]; presynaptic modulation of chemical synaptic transmission [GO:0099171]; protein phosphorylation [GO:0006468]; regulation of myeloid cell differentiation [GO:0045637]; regulation of synaptic vesicle exocytosis [GO:2000300]; regulation of transcription by RNA polymerase II [GO:0006357]; signal transduction [GO:0007165]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=Beta-I; Synonyms=PRKCB1; IsoId=P05771-1; Sequence=Displayed; Name=Beta-II; Synonyms=PRKCB2; IsoId=P05771-2; Sequence=VSP_004738; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250}. Nucleus {ECO:0000269|PubMed:20228790}. Membrane {ECO:0000250}; Peripheral membrane protein {ECO:0000250}.


uniprotID: Q92876
geneSymbol: KLK6
pdb: 1GVL;1L2E;1LO6;3VFE;4D8N;5NX1;5NX3;
length: 244
go: ENSG00000167755;
drug: DB03127;
snps: rs61469141
name:
Kallikrein-6 (EC 3.4.21.-) (Neurosin) (Protease M) (SP59) (Serine protease 18) (Serine protease 9) (Zyme)

sequence:

opentargets:
cytoplasm [GO:0005737]; endoplasmic reticulum [GO:0005783]; extracellular region [GO:0005576]; extracellular space [GO:0005615]; mitochondrion [GO:0005739]; nucleolus [GO:0005730]; secretory granule [GO:0030141]; serine-type endopeptidase activity [GO:0004252]; amyloid precursor protein metabolic process [GO:0042982]; central nervous system development [GO:0007417]; collagen catabolic process [GO:0030574]; hormone metabolic process [GO:0042445]; myelination [GO:0042552]; positive regulation of G protein-coupled receptor signaling pathway [GO:0045745]; protein autoprocessing [GO:0016540]; regulation of cell differentiation [GO:0045595]; regulation of neuron projection development [GO:0010975]; response to wounding [GO:0009611]; tissue regeneration [GO:0042246]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q92876-1; Sequence=Displayed; Name=2; IsoId=Q92876-2; Sequence=VSP_034403; Name=3; IsoId=Q92876-3; Sequence=VSP_034404, VSP_034405; 

location:
SUBCELLULAR LOCATION: Secreted. Nucleus, nucleolus. Cytoplasm. Mitochondrion. Microsome. Note=In brain, detected in the nucleus of glial cells and in the nucleus and cytoplasm of neurons. Detected in the mitochondrial and microsomal fractions of HEK-293 cells and released into the cytoplasm following cell stress.


uniprotID: Q9BYQ6
geneSymbol: KRTAP4-11
reactome: R-HSA-6805567;
length: 195
opentargets: cytosol [GO:0005829]; keratin filament [GO:0045095]; keratinization [GO:0031424]
name:
Keratin-associated protein 4-11 (Keratin-associated protein 4-14) (Keratin-associated protein 4.11) (Keratin-associated protein 4.14) (Ultrahigh sulfur keratin-associated protein 4.14)

sequence:
MVNSCCGSVCSHQGCGRDLCQETCCRPSCCETTCCRTTYCRPSCCVSSCCRPQCCQSVCCQPTCCRPRCCISSCCRPSCCVSSCCKPQCCQSMCCQPTCCRPRCCISSCCRPSCCVSSCCRPQCCQSVCCQPTCCHPSCSISSCCRPSCCESSCCRPCCCLRPVCGRVSCHTTCYRPTCVISSCPRPLCCASSCC


uniprotID: P18627
geneSymbol: LAG3
reactome: R-HSA-2132295;
name: Lymphocyte activation gene 3 protein (LAG-3) (Protein FDC) (CD antigen CD223)
length: 525
go: ENSG00000089692;
snps: rs870849
location: SUBCELLULAR LOCATION: Membrane; Single-pass type I membrane protein.
sequence:

opentargets:
external side of plasma membrane [GO:0009897]; integral component of membrane [GO:0016021]; plasma membrane [GO:0005886]; antigen binding [GO:0003823]; MHC class II protein binding [GO:0042289]; transmembrane signaling receptor activity [GO:0004888]; antigen processing and presentation of exogenous peptide antigen via MHC class II [GO:0019886]; cell surface receptor signaling pathway [GO:0007166]; negative regulation of interleukin-2 biosynthetic process [GO:0045085]; negative regulation of T cell activation [GO:0050868]; positive regulation of natural killer cell mediated cytotoxicity [GO:0045954]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P18627-1; Sequence=Displayed; Name=2; IsoId=P18627-2; Sequence=VSP_056311, VSP_056312; Note=No experimental confirmation available.; 


uniprotID: Q71F78
geneSymbol: LCA10
name: Putative lung carcinoma-associated protein 10
length: 164
sequence:
MSSCPVHDCPSWDPERLEPVETGSRGALRLRGGAPGSAAGFRASIWGPAGYPSPVGLGHPASLPRPAYSPRCPEPDARHGWGSGSNAGYRGPDRAGRTPCPAQDREGRSSSPVPPPRLKAMTSQARKQNGGALIDTVDWTREAPDSDPVMSMQKTQKPQTTVGQ


uniprotID: Q6GTX8
geneSymbol: LAIR1
reactome: R-HSA-198933;R-HSA-6798695;
pdb: 3KGR;3RP1;
name: Leukocyte-associated immunoglobulin-like receptor 1 (LAIR-1) (hLAIR1) (CD antigen CD305)
length: 287
snps: rs3745442
sequence:

opentargets:
integral component of membrane [GO:0016021]; plasma membrane [GO:0005886]; specific granule membrane [GO:0035579]; tertiary granule membrane [GO:0070821]; adaptive immune response [GO:0002250]; neutrophil degranulation [GO:0043312]; regulation of immune response [GO:0050776]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; Synonyms=LAIR-1a; IsoId=Q6GTX8-1; Sequence=Displayed; Name=2; Synonyms=LAIR-1b; IsoId=Q6GTX8-2; Sequence=VSP_020711; Note=Functions as an inhibitory receptor in NK cells and T-cells.; Name=3; Synonyms=LAIR-1c; IsoId=Q6GTX8-3; Sequence=VSP_020710, VSP_020711; Name=4; Synonyms=LAIR-1d; IsoId=Q6GTX8-4; Sequence=VSP_020712; 

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:10229813, ECO:0000269|PubMed:11160222, ECO:0000269|PubMed:9285412}; Single-pass type I membrane protein {ECO:0000269|PubMed:10229813, ECO:0000269|PubMed:11160222, ECO:0000269|PubMed:9285412}.


uniprotID: A0A087WSZ0
geneSymbol: IGKV1D-8
name: Immunoglobulin kappa variable 1D-8
length: 117
go: ENSG00000239819;
sequence:
MDMRVPAQLLGLLLLWLPGARCAIWMTQSPSLLSASTGDRVTISCRMSQGISSYLAWYQQKPGKAPELLIYAASTLQSGVPSRFSGSGSGTDFTLTISCLQSEDFATYYCQQYYSFP


uniprotID: A0A0A0MRZ8
geneSymbol: IGKV3D-11
name: Immunoglobulin kappa variable 3D-11
length: 115
go: ENSG00000211632;
sequence:
MEAPAQLLFLLLLWLPDTTGEIVLTQSPATLSLSPGERATLSCRASQSVSSYLAWYQQKPGQAPRLLIYDASNRATGIPARFSGSGPGTDFTLTISSLEPEDFAVYYCQQRSNWH


uniprotID: Q13571
geneSymbol: LAPTM5
length: 262
go: ENSG00000162511;
snps: rs35351292
name:
Lysosomal-associated transmembrane protein 5 (Lysosomal-associated multitransmembrane protein 5) (Retinoic acid-inducible E3 protein)

sequence:

opentargets:
integral component of plasma membrane [GO:0005887]; lysosomal membrane [GO:0005765]; lysosome [GO:0005764]; membrane [GO:0016020]; cellular response to leukemia inhibitory factor [GO:1990830]

location:
SUBCELLULAR LOCATION: Lysosome membrane {ECO:0000269|PubMed:8661146}; Multi-pass membrane protein {ECO:0000269|PubMed:8661146}.


uniprotID: O00515
geneSymbol: LAD1
name: Ladinin-1 (Lad-1) (Linear IgA disease antigen) (LADA)
length: 517
go: ENSG00000159166;
snps: rs3738281 rs1128316 rs12088790 rs11805972 rs4128458 rs2275866
sequence:

opentargets:
actin cytoskeleton [GO:0015629]; basement membrane [GO:0005604]; extracellular exosome [GO:0070062]; cadherin binding [GO:0045296]; structural molecule activity [GO:0005198]

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


uniprotID: P01593
geneSymbol: IGKV1D-33
pdb: 1AR2;1BWW;1REI;1WTL;4L1H;5XP1;
length: 117
drug: DB04147;
name:
Immunoglobulin kappa variable 1D-33 (Ig kappa chain V-I region AG) (Ig kappa chain V-I region Bi) (Ig kappa chain V-I region Lay) (Ig kappa chain V-I region Ni) (Ig kappa chain V-I region Rei) (Ig kappa chain V-I region Roy) (Ig kappa chain V-I region Scw) (Ig kappa chain V-I region WAT)

sequence:
MDMRVPAQLLGLLLLWLSGARCDIQMTQSPSSLSASVGDRVTITCQASQDISNYLNWYQQKPGKAPKLLIYDASNLETGVPSRFSGSGSGTDFTFTISSLQPEDIATYYCQQYDNLP


uniprotID: P23919
geneSymbol: DTYMK
reactome: R-HSA-499943;
name: Thymidylate kinase (EC 2.7.4.9) (dTMP kinase)
length: 212
go: ENSG00000168393;
drug: DB03666;DB03845;DB03280;DB04395;DB01643;
pdb:
1E2D;1E2E;1E2F;1E2G;1E2Q;1E98;1E99;1E9A;1E9B;1E9C;1E9D;1E9E;1E9F;1NMX;1NMY;1NMZ;1NN0;1NN1;1NN3;1NN5;2XX3;

sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; mitochondrial intermembrane space [GO:0005758]; mitochondrial matrix [GO:0005759]; mitochondrion [GO:0005739]; nucleus [GO:0005634]; ATP binding [GO:0005524]; nucleoside monophosphate kinase activity [GO:0050145]; thymidylate kinase activity [GO:0004798]; uridylate kinase activity [GO:0009041]; cell proliferation [GO:0008283]; cellular response to growth factor stimulus [GO:0071363]; dTDP biosynthetic process [GO:0006233]; dTTP biosynthetic process [GO:0006235]; dUDP biosynthetic process [GO:0006227]; myoblast differentiation [GO:0045445]; nucleobase-containing small molecule interconversion [GO:0015949]; response to cadmium ion [GO:0046686]; response to estrogen [GO:0043627]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P23919-1; Sequence=Displayed; Name=2; IsoId=P23919-2; Sequence=VSP_054164; Note=No experimental confirmation available.; 


uniprotID: O95461
geneSymbol: LARGE1
reactome: R-HSA-5083627;R-HSA-5173105;
length: 756
go: ENSG00000133424;
snps: rs470035 rs135311 rs267607210 rs267607209 rs121908675 rs1046166
name:
LARGE xylosyl- and glucuronyltransferase 1 (EC 2.4.-.-) (Acetylglucosaminyltransferase-like 1A) (Glycosyltransferase-like protein) [Includes: Xylosyltransferase LARGE (EC 2.4.2.-); Beta-1,3-glucuronyltransferase LARGE (EC 2.4.1.-)]

sequence:

opentargets:
Golgi apparatus [GO:0005794]; Golgi membrane [GO:0000139]; integral component of Golgi membrane [GO:0030173]; acetylglucosaminyltransferase activity [GO:0008375]; glucuronosyltransferase activity [GO:0015020]; manganese ion binding [GO:0030145]; transferase activity, transferring glycosyl groups [GO:0016757]; UDP-xylosyltransferase activity [GO:0035252]; xylosyltransferase activity [GO:0042285]; glycoprotein biosynthetic process [GO:0009101]; glycosphingolipid biosynthetic process [GO:0006688]; muscle cell cellular homeostasis [GO:0046716]; N-acetylglucosamine metabolic process [GO:0006044]; protein glycosylation [GO:0006486]; protein O-linked glycosylation [GO:0006493]; protein O-linked mannosylation [GO:0035269]; skeletal muscle organ development [GO:0060538]; skeletal muscle tissue regeneration [GO:0043403]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=O95461-1; Sequence=Displayed; Name=2; IsoId=O95461-2; Sequence=VSP_014536; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Golgi apparatus membrane {ECO:0000269|PubMed:15661757, ECO:0000269|PubMed:15958417, ECO:0000269|PubMed:25279699}; Single-pass type II membrane protein {ECO:0000269|PubMed:15661757, ECO:0000269|PubMed:15958417}.


uniprotID: Q5TA78
geneSymbol: LCE4A
reactome: R-HSA-6809371;
sequence: MSCQQNQQQCQPPPKCPIPKYPPKCPSKCASSCPPPISSCCGSSSGGCGCCSSEGGGCCLSHHRHHRSHCHRPKSSNCYGSGSGQQSGGSGCCSGGGCC
length: 99
go: ENSG00000187170;
snps: rs10888510
name:
Late cornified envelope protein 4A (Late envelope protein 8) (Small proline-rich-like epidermal differentiation complex protein 4A)


uniprotID: O75582
geneSymbol: RPS6KA5
reactome: R-HSA-198753;R-HSA-199920;R-HSA-375165;R-HSA-437239;R-HSA-5621575;
pdb: 1VZO;3KN5;3KN6;
length: 802
go: ENSG00000100784;
snps: rs34699345 rs55911249 rs34604933 rs55968863
name:
Ribosomal protein S6 kinase alpha-5 (S6K-alpha-5) (EC 2.7.11.1) (90 kDa ribosomal protein S6 kinase 5) (Nuclear mitogen- and stress-activated protein kinase 1) (RSK-like protein kinase) (RSKL)

sequence:

opentargets:
cytoplasm [GO:0005737]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; ATP binding [GO:0005524]; magnesium ion binding [GO:0000287]; protein kinase activity [GO:0004672]; protein serine/threonine kinase activity [GO:0004674]; axon guidance [GO:0007411]; epidermal growth factor receptor signaling pathway [GO:0007173]; histone H2A-S1 phosphorylation [GO:0043990]; histone H3-S10 phosphorylation [GO:0043987]; histone H3-S28 phosphorylation [GO:0043988]; histone phosphorylation [GO:0016572]; inflammatory response [GO:0006954]; interleukin-1-mediated signaling pathway [GO:0070498]; intracellular signal transduction [GO:0035556]; negative regulation of cytokine production [GO:0001818]; negative regulation of transcription, DNA-templated [GO:0045892]; positive regulation of CREB transcription factor activity [GO:0032793]; positive regulation of histone acetylation [GO:0035066]; positive regulation of histone phosphorylation [GO:0033129]; positive regulation of NF-kappaB transcription factor activity [GO:0051092]; positive regulation of transcription by RNA polymerase II [GO:0045944]; protein phosphorylation [GO:0006468]; regulation of transcription, DNA-templated [GO:0006355]; stimulatory C-type lectin receptor signaling pathway [GO:0002223]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=O75582-1; Sequence=Displayed; Name=2; IsoId=O75582-2; Sequence=VSP_041837, VSP_041838; Name=3; IsoId=O75582-3; Sequence=VSP_057410; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Nucleus. Cytoplasm. Note=Predominantly nuclear. Exported into cytoplasm in response to glucocorticoid.


uniprotID: P06315
geneSymbol: IGKV5-2
name: Immunoglobulin kappa variable 5-2 (Ig kappa chain V region EV15)
length: 115
go: ENSG00000211599;
sequence:
MGSQVHLLSFLLLWISDTRAETTLTQSPAFMSATPGDKVNISCKASQDIDDDMNWYQQKPGEAAIFIIQEATTLVPGIPPRFSGSGYGTDFTLTINNIESEDAAYYFCLQHDNFP


uniprotID: Q9H079
geneSymbol: KATNBL1
name: KATNB1-like protein 1 (Katanin p80 subunit B-like 1)
length: 304
go: ENSG00000134152;
sequence:

opentargets:
cytoplasm [GO:0005737]; mitotic spindle pole [GO:0097431]; nucleolus [GO:0005730]; nucleus [GO:0005634]; positive regulation of cytoskeleton organization [GO:0051495]

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:26929214}. Cytoplasm, cytoskeleton, spindle pole {ECO:0000269|PubMed:26929214}. Note=Localizes to the spindle poles only during mitosis. Sequestered to the nucleus during interphase. {ECO:0000269|PubMed:26929214}.


uniprotID: Q53H82
geneSymbol: LACTB2
pdb: 4AD9;
name: Endoribonuclease LACTB2 (EC 3.1.27.-) (Beta-lactamase-like protein 2)
length: 288
go: ENSG00000147592;
location: SUBCELLULAR LOCATION: Mitochondrion matrix {ECO:0000269|PubMed:26826708}.
sequence:

opentargets:
mitochondrial matrix [GO:0005759]; endoribonuclease activity [GO:0004521]; single-stranded RNA binding [GO:0003727]; zinc ion binding [GO:0008270]; RNA phosphodiester bond hydrolysis, endonucleolytic [GO:0090502]


uniprotID: Q9BYT5
geneSymbol: KRTAP2-2
reactome: R-HSA-6805567;
length: 123
go: ENSG00000214518;
opentargets: cytosol [GO:0005829]; keratin filament [GO:0045095]; keratinization [GO:0031424]
name:
Keratin-associated protein 2-2 (High sulfur keratin-associated protein 2.2) (Keratin-associated protein 2.2)

sequence:
MTGSCCGSTFSSLSYGGGCCQPCCCRDPCCCRPVTCQTTVCRPVTCVPRCTRPICEPCRRPVCCDPCSLQEGCCRPITCCPSSCTAVVCRPCCWATTCCQPVSVQSPCGQPTPCSTTCRTSSC


uniprotID: Q9BYR8
geneSymbol: KRTAP3-1
reactome: R-HSA-6805567;
sequence: MYCCALRSCSVPTGPATTFCSFDKSCRCGVCLPSTCPHEISLLQPICCDTCPPPCCKPDTYVPTCWLLNNCHPTPGLSGINLTTYVQPGCESPCEPRC
length: 98
go: ENSG00000212901;
name:
Keratin-associated protein 3-1 (High sulfur keratin-associated protein 3.1) (Keratin-associated protein 3.1)


uniprotID: O95447
geneSymbol: LCA5L
name: Lebercilin-like protein (Leber congenital amaurosis 5-like protein)
length: 670
go: ENSG00000157578;
opentargets: axoneme [GO:0005930]; intraciliary transport [GO:0042073]
snps: rs2837029 rs11558767
sequence:


uniprotID: Q6L8H4
geneSymbol: KRTAP5-1
reactome: R-HSA-6805567;
length: 278
go: ENSG00000205869;
opentargets: cytosol [GO:0005829]; keratin filament [GO:0045095]; keratinization [GO:0031424]
name:
Keratin-associated protein 5-1 (Keratin, cuticle, ultrahigh sulphur 1-like) (Keratin-associated protein 5.1) (Ultrahigh sulfur keratin-associated protein 5.1)

sequence:


uniprotID: Q96B70
geneSymbol: LENG9
name: Leukocyte receptor cluster member 9
length: 501
opentargets: metal ion binding [GO:0046872]
snps: rs10406453 rs10423424
sequence:


uniprotID: Q5TCM9
geneSymbol: LCE5A
reactome: R-HSA-6809371;
length: 118
go: ENSG00000186207;
snps: rs2105117
name:
Late cornified envelope protein 5A (Late envelope protein 18) (Small proline-rich-like epidermal differentiation complex protein 5A)

sequence:
MSCQQSQQQCQPPPKCTPKCPPKCTPKCPPKCPPKCPPQCSAPCPPPVSSCCGSSSGGCCSSEGGGCCLSHHRPRQSLRRRPQSSSCCGSGSGQQSGGSSCCHSSGGSGCCHSSGGCC


uniprotID: Q9BYR2
geneSymbol: KRTAP4-5
reactome: R-HSA-6805567;
length: 181
go: ENSG00000198271;
snps: rs238829 rs1497383 rs238830 rs1846044
name:
Keratin-associated protein 4-5 (Keratin-associated protein 4.5) (Ultrahigh sulfur keratin-associated protein 4.5)

sequence:
MVSSCCGSVSSEQSCGLENCCRPSCCQTTCCRTTCCRPSCCKPQCCQSVCYQPTCCHPSCCISSCCRPYCCESSCCRPCCCQTTCCRTTCCRTTCCCPSCCVSSCCRPQCCQSVCCQPTCCRPSCCISSCCHPSCCESSCCRPCCCVRPVCGRVSCHTTCYRPTCVISTCPRPLCCASSCC


uniprotID: P62502
geneSymbol: LCN6
name: Epididymal-specific lipocalin-6 (Lipocalin-5)
length: 163
go: ENSG00000267206;
sequence:
MGGLLLAAFLALVSVPRAQAVWLGRLDPEQLLGPWYVLAVASREKGFAMEKDMKNVVGVVVTLTPENNLRTLSSQHGLGGCDQSVMDLIKRNSGWVFENPSIGVLELWVLATNFRDYAIIFTQLEFGDEPFNTVELYSLTETASQEAMGLFTKWSRSLGFLSQ

opentargets:
extracellular region [GO:0005576]; small molecule binding [GO:0036094]; single fertilization [GO:0007338]

location:
SUBCELLULAR LOCATION: Secreted. Note=Located on the head and tail of spermatozoa with the highest concentration on the post-acrosomal region of the head, where it appears aggregated into large patches.


uniprotID: Q6JVE9
geneSymbol: LCN8
name: Epididymal-specific lipocalin-8
length: 175
go: ENSG00000204001;
location: SUBCELLULAR LOCATION: Secreted {ECO:0000250}.
sequence:
MPGAAEALPTVTVTLVAGAVPPASGALTAHCIGGFWREVGVASDQSLVLTAPKRVEGLFLTLSGSNLTVKVAYNSSGSCEIEKIVGSEIDSTGKFAFPGHREIHVLDTDYEGYAILRVSLMWRGRNFRVLKYFTRSLEDKDRLGFWKFRELTADTGLYLAARPGRCAELLKEELI

opentargets:
extracellular region [GO:0005576]; small molecule binding [GO:0036094]; response to hormone [GO:0009725]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q6JVE9-1; Sequence=Displayed; Name=2; IsoId=Q6JVE9-2; Sequence=VSP_040219; 


uniprotID: Q8WX39
geneSymbol: LCN9
reactome: R-HSA-804914;
name: Epididymal-specific lipocalin-9 (MUP-like lipocalin)
length: 176
opentargets: extracellular region [GO:0005576]; small molecule binding [GO:0036094]
drug: DB03087;DB04512;DB01760;DB03711;
snps: rs12352552 rs7875283
location: SUBCELLULAR LOCATION: Secreted.
sequence:
MALLLLSLGLSLIAAQEFDPHTVMQRNYNVARVSGVWYSIFMASDDLNRIKENGDLRVFVRNIEHLKNGSLIFDFEYMVQGECVAVVVVCEKTEKNGEYSINYEGQNTVAVSETDYRLFITFHLQNFRNGTETHTLALYETCEKYGLGSQNIIDLTNKDPCYSKHYRSPPRPPMRW


uniprotID: A0A0C4DH55
geneSymbol: IGKV3D-7
name: Immunoglobulin kappa variable 3D-7
length: 119
sequence:
MEPWKPQHSFFFLLLLWLPDTTGEIVMTQSPATLSLSPGERATLSCRASQSVSSSYLSWYQQKPGQAPRLLIYGASTRATGIPARFSGSGSGTDFTLTISSLQPEDFAVYYCQQDYNLP


uniprotID: Q6XYB7
geneSymbol: LBX2
name: Transcription factor LBX2 (Ladybird homeobox protein homolog 2)
length: 198
go: ENSG00000179528;
snps: rs17009998
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000255|PROSITE-ProRule:PRU00108}.
sequence:
MNSGREPRTPRTLLSIADILAPRMVPRAPSAPQLPESGPGPTSPLCALEELTSKTFRGLDARALQPSEGRAGPDALGPGPFGRKRRKSRTAFTAQQVLELERRFVFQKYLAPSERDGLATRLGLANAQVVTWFQNRRAKLKRDVEEMRADVASLRALSPEVLCSLALPEGAPDPGLCLGPAGPDSRPHLSDEEIQVDD

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q6XYB7-1; Sequence=Displayed; Name=2; IsoId=Q6XYB7-2; Sequence=VSP_029522; Note=No experimental confirmation available.; 


uniprotID: O76011
geneSymbol: KRT34
reactome: R-HSA-6805567;R-HSA-6809371;
name: Keratin, type I cuticular Ha4 (Hair keratin, type I Ha4) (Keratin-34) (K34)
length: 436
go: ENSG00000131737;
snps: rs2239710 rs2071599
sequence:

opentargets:
cytosol [GO:0005829]; extracellular space [GO:0005615]; intermediate filament [GO:0005882]; structural molecule activity [GO:0005198]; cornification [GO:0070268]; epidermis development [GO:0008544]; keratinization [GO:0031424]


uniprotID: Q16787
geneSymbol: LAMA3
length: 3333
snps: rs17187262 rs12457323 rs17202961 rs958631 rs9952370 rs1154232 rs1154233
reactome:
R-HSA-1474228;R-HSA-2022090;R-HSA-2214320;R-HSA-3000157;R-HSA-3000171;R-HSA-3000178;R-HSA-446107;R-HSA-8874081;

name:
Laminin subunit alpha-3 (Epiligrin 170 kDa subunit) (E170) (Epiligrin subunit alpha) (Kalinin subunit alpha) (Laminin-5 subunit alpha) (Laminin-6 subunit alpha) (Laminin-7 subunit alpha) (Nicein subunit alpha)

sequence:

opentargets:
basement membrane [GO:0005604]; collagen-containing extracellular matrix [GO:0062023]; endoplasmic reticulum [GO:0005783]; extracellular exosome [GO:0070062]; extracellular region [GO:0005576]; laminin-5 complex [GO:0005610]; extracellular matrix structural constituent [GO:0005201]; signaling receptor binding [GO:0005102]; structural molecule activity [GO:0005198]; cell adhesion [GO:0007155]; endodermal cell differentiation [GO:0035987]; epidermis development [GO:0008544]; extracellular matrix organization [GO:0030198]; hemidesmosome assembly [GO:0031581]; regulation of cell adhesion [GO:0030155]; regulation of cell migration [GO:0030334]; regulation of embryonic development [GO:0045995]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=2; Synonyms=B; IsoId=Q16787-2; Sequence=Displayed; Name=1; Synonyms=A; IsoId=Q16787-1; Sequence=VSP_035738, VSP_035739; Name=3; IsoId=Q16787-3; Sequence=VSP_043487; Name=4; IsoId=Q16787-4; Sequence=VSP_047079, VSP_047080, VSP_043487; 


uniprotID: A0A0C4DH25
geneSymbol: IGKV3D-20
name: Immunoglobulin kappa variable 3D-20
length: 116
go: ENSG00000211625;
sequence:
METPAQLLFLLLLWLPDTTGEIVLTQSPATLSLSPGERATLSCGASQSVSSSYLAWYQQKPGLAPRLLIYDASSRATGIPDRFSGSGSGTDFTLTISRLEPEDFAVYYCQQYGSSP


uniprotID: P07195
geneSymbol: LDHB
reactome: R-HSA-70268;
pdb: 1I0Z;1T2F;
length: 334
go: ENSG00000111716;
drug: DB00157;DB03940;
snps: rs118203897 rs777954556 rs118203896 rs118203895 rs7966339 rs267607212
location: SUBCELLULAR LOCATION: Cytoplasm.
name:
L-lactate dehydrogenase B chain (LDH-B) (EC 1.1.1.27) (LDH heart subunit) (LDH-H) (Renal carcinoma antigen NY-REN-46)

sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; extracellular exosome [GO:0070062]; membrane [GO:0016020]; membrane raft [GO:0045121]; identical protein binding [GO:0042802]; L-lactate dehydrogenase activity [GO:0004459]; carbohydrate metabolic process [GO:0005975]; pyruvate metabolic process [GO:0006090]


uniprotID: Q9NVR5
geneSymbol: DNAAF2
name: Protein kintoun (Dynein assembly factor 2, axonemal)
length: 837
go: ENSG00000165506;
snps: rs2985684 rs9989177
sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; axonemal dynein complex assembly [GO:0070286]; cilium-dependent cell motility [GO:0060285]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9NVR5-1; Sequence=Displayed; Name=2; IsoId=Q9NVR5-2; Sequence=VSP_008390; Note=May be due to exon skipping.; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000255|HAMAP-Rule:MF_03069, ECO:0000269|PubMed:19052621}. Note=Localizes in the apical cytoplasm around the gamma-tubulin-positive pericentriolar region, not in the cilia. {ECO:0000255|HAMAP-Rule:MF_03069}.


uniprotID: Q659C4
geneSymbol: LARP1B
length: 914
go: ENSG00000138709;
opentargets: nucleus [GO:0005634]; RNA binding [GO:0003723]
snps: rs12508837 rs12645577
name:
La-related protein 1B (La ribonucleoprotein domain family member 1B) (La ribonucleoprotein domain family member 2) (La-related protein 2)

sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=9;  Name=1; IsoId=Q659C4-1; Sequence=Displayed; Name=2; IsoId=Q659C4-2; Sequence=VSP_027642, VSP_027647; Name=3; IsoId=Q659C4-3; Sequence=VSP_027643, VSP_027644; Name=4; IsoId=Q659C4-4; Sequence=VSP_027641, VSP_027645, VSP_027646; Name=5; IsoId=Q659C4-5; Sequence=VSP_027640, VSP_027651; Name=6; IsoId=Q659C4-6; Sequence=VSP_027639, VSP_027653; Name=7; IsoId=Q659C4-7; Sequence=VSP_027639, VSP_027652; Name=8; IsoId=Q659C4-8; Sequence=VSP_027638, VSP_027650; Name=9; IsoId=Q659C4-9; Sequence=VSP_027648, VSP_027649; 


uniprotID: P60368
geneSymbol: KRTAP10-2
reactome: R-HSA-6805567;
length: 255
go: ENSG00000205445;
opentargets: cytosol [GO:0005829]; keratin filament [GO:0045095]; keratinization [GO:0031424]
snps: rs233240 rs478967 rs233239 rs2329834 rs146792277
name:
Keratin-associated protein 10-2 (High sulfur keratin-associated protein 10.2) (Keratin-associated protein 10.2) (Keratin-associated protein 18-2) (Keratin-associated protein 18.2)

sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=1;  Comment=A number of isoforms are produced.; Name=1; IsoId=P60368-1; Sequence=Displayed; 


uniprotID: O00214
geneSymbol: LGALS8
length: 317
go: ENSG00000116977;
snps: rs1126407 rs1041935 rs1041937 rs2243525
pdb:
2YRO;2YV8;2YXS;3AP4;3AP5;3AP6;3AP7;3AP9;3APB;3OJB;3VKL;3VKM;3VKN;3VKO;4BMB;4BME;4FQZ;4GXL;4HAN;5GZC;5GZD;5GZE;5GZF;5GZG;5T7I;5T7S;5T7T;5T7U;5VWG;

name:
Galectin-8 (Gal-8) (Po66 carbohydrate-binding protein) (Po66-CBP) (Prostate carcinoma tumor antigen 1) (PCTA-1)

sequence:

opentargets:
cytoplasm [GO:0005737]; cytoplasmic vesicle [GO:0031410]; cytosol [GO:0005829]; extracellular space [GO:0005615]; membrane [GO:0016020]; carbohydrate binding [GO:0030246]; integrin binding [GO:0005178]; cellular response to virus [GO:0098586]; lymphatic endothelial cell migration [GO:1904977]; xenophagy [GO:0098792]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; Synonyms=I; IsoId=O00214-1; Sequence=Displayed; Name=2; IsoId=O00214-2; Sequence=VSP_003094; 

location:
SUBCELLULAR LOCATION: Cytoplasmic vesicle {ECO:0000269|PubMed:22246324}. Cytoplasm, cytosol {ECO:0000269|PubMed:22246324}.


uniprotID: Q8IWV1
geneSymbol: LAX1
length: 398
go: ENSG00000122188;
name:
Lymphocyte transmembrane adapter 1 (Linker for activation of X cells) (Membrane-associated adapter protein LAX)

sequence:

opentargets:
cytosol [GO:0005829]; Golgi apparatus [GO:0005794]; integral component of membrane [GO:0016021]; membrane [GO:0016020]; plasma membrane [GO:0005886]; protein kinase binding [GO:0019901]; SH2 domain binding [GO:0042169]; adaptive immune response [GO:0002250]; B cell activation [GO:0042113]; immune response [GO:0006955]; inactivation of MAPK activity [GO:0000188]; intracellular signal transduction [GO:0035556]; negative regulation of T cell activation [GO:0050868]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q8IWV1-1; Sequence=Displayed; Name=2; IsoId=Q8IWV1-2; Sequence=VSP_016641; Name=3; IsoId=Q8IWV1-3; Sequence=VSP_046972; 

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:12359715}; Single-pass type III membrane protein {ECO:0000269|PubMed:12359715}.


uniprotID: Q9UIC8
geneSymbol: LCMT1
reactome: R-HSA-69273;
pdb: 3IEI;3O7W;3P71;
length: 334
go: ENSG00000205629;
drug: DB00149;
name:
Leucine carboxyl methyltransferase 1 (EC 2.1.1.233) (Protein-leucine O-methyltransferase) ([Phosphatase 2A protein]-leucine-carboxy methyltransferase 1)

sequence:

opentargets:
cytosol [GO:0005829]; nucleoplasm [GO:0005654]; protein C-terminal carboxyl O-methyltransferase activity [GO:0003880]; protein C-terminal leucine carboxyl O-methyltransferase activity [GO:0018423]; S-adenosylmethionine-dependent methyltransferase activity [GO:0008757]; C-terminal protein methylation [GO:0006481]; cellular protein modification process [GO:0006464]; G2/M transition of mitotic cell cycle [GO:0000086]; negative regulation of protein complex assembly [GO:0031333]; protein methylation [GO:0006479]; regulation of apoptotic process [GO:0042981]; regulation of glucose metabolic process [GO:0010906]; regulation of mitotic cell cycle spindle assembly checkpoint [GO:0090266]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q9UIC8-1; Sequence=Displayed; Name=2; IsoId=Q9UIC8-2; Sequence=VSP_017428; Name=3; IsoId=Q9UIC8-3; Sequence=VSP_041416; 


uniprotID: P23443
geneSymbol: RPS6KB1
reactome: R-HSA-166208;
length: 525
go: ENSG00000108443;
snps: rs766645749
pdb:
3A60;3A61;3A62;3WE4;3WF5;3WF6;3WF7;3WF8;3WF9;4L3J;4L3L;4L42;4L43;4L44;4L45;4L46;4RLO;4RLP;5WBH;5WBK;

name:
Ribosomal protein S6 kinase beta-1 (S6K-beta-1) (S6K1) (EC 2.7.11.1) (70 kDa ribosomal protein S6 kinase 1) (P70S6K1) (p70-S6K 1) (Ribosomal protein S6 kinase I) (Serine/threonine-protein kinase 14A) (p70 ribosomal S6 kinase alpha) (p70 S6 kinase alpha) (p70 S6K-alpha) (p70 S6KA)

sequence:

opentargets:
cell junction [GO:0030054]; cell surface [GO:0009986]; cytoplasm [GO:0005737]; cytosol [GO:0005829]; mitochondrial outer membrane [GO:0005741]; mitochondrion [GO:0005739]; neuron projection [GO:0043005]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; perinuclear region of cytoplasm [GO:0048471]; synapse [GO:0045202]; ATP binding [GO:0005524]; identical protein binding [GO:0042802]; kinase activity [GO:0016301]; PDZ domain binding [GO:0030165]; peptide binding [GO:0042277]; protein kinase activity [GO:0004672]; protein phosphatase 2A binding [GO:0051721]; protein serine/threonine kinase activity [GO:0004674]; protein serine/threonine/tyrosine kinase activity [GO:0004712]; ribosomal protein S6 kinase activity [GO:0004711]; aging [GO:0007568]; apoptotic process [GO:0006915]; behavioral fear response [GO:0001662]; cell migration [GO:0016477]; cellular response to dexamethasone stimulus [GO:0071549]; cellular response to growth factor stimulus [GO:0071363]; cellular response to insulin stimulus [GO:0032869]; cellular response to interferon-gamma [GO:0071346]; G1/S transition of mitotic cell cycle [GO:0000082]; germ cell development [GO:0007281]; intracellular signal transduction [GO:0035556]; long-chain fatty acid import [GO:0044539]; long-term memory [GO:0007616]; negative regulation of apoptotic process [GO:0043066]; negative regulation of extrinsic apoptotic signaling pathway [GO:2001237]; negative regulation of insulin receptor signaling pathway [GO:0046627]; peptidyl-serine phosphorylation [GO:0018105]; phosphatidylinositol-mediated signaling [GO:0048015]; positive regulation of mitotic cell cycle [GO:0045931]; positive regulation of skeletal muscle tissue growth [GO:0048633]; positive regulation of smooth muscle cell migration [GO:0014911]; positive regulation of smooth muscle cell proliferation [GO:0048661]; positive regulation of translation [GO:0045727]; positive regulation of translational initiation [GO:0045948]; protein kinase B signaling [GO:0043491]; protein phosphorylation [GO:0006468]; regulation of glucose import [GO:0046324]; response to electrical stimulus involved in regulation of muscle adaptation [GO:0014878]; response to ethanol [GO:0045471]; response to glucagon [GO:0033762]; response to glucose [GO:0009749]; response to heat [GO:0009408]; response to leucine [GO:0043201]; response to lipopolysaccharide [GO:0032496]; response to mechanical stimulus [GO:0009612]; response to nutrient [GO:0007584]; response to testosterone [GO:0033574]; response to tumor necrosis factor [GO:0034612]; response to wounding [GO:0009611]; signal transduction [GO:0007165]; skeletal muscle atrophy [GO:0014732]; skeletal muscle contraction [GO:0003009]; TOR signaling [GO:0031929]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing, Alternative initiation; Named isoforms=5;  Comment=Additional isoforms seem to exist.; Name=Alpha I; Synonyms=p80-S6K 1; IsoId=P23443-1; Sequence=Displayed; Name=Alpha II; IsoId=P23443-2; Sequence=VSP_018839; Name=2; IsoId=P23443-3; Sequence=VSP_054613; Note=No experimental confirmation available.; Name=4; IsoId=P23443-5; Sequence=VSP_055026; Name=3; IsoId=P23443-4; Sequence=VSP_054614; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cell junction, synapse, synaptosome {ECO:0000250}. Mitochondrion outer membrane. Mitochondrion. Note=Colocalizes with URI1 at mitochondrion.; SUBCELLULAR LOCATION: Isoform Alpha I: Nucleus. Cytoplasm.; SUBCELLULAR LOCATION: Isoform Alpha II: Cytoplasm.


uniprotID: A4D1U4
geneSymbol: LCHN
name: Protein LCHN
length: 455
go: ENSG00000257093;
sequence:


uniprotID: Q9NQR1
geneSymbol: KMT5A
reactome: R-HSA-2299718;R-HSA-3214841;R-HSA-6804760;
pdb: 1ZKK;2BQZ;3F9W;3F9X;3F9Y;3F9Z;4IJ8;5HQ2;5T5G;5TEG;5TH7;5V2N;5W1Y;
length: 393
go: ENSG00000183955;
name:
N-lysine methyltransferase KMT5A (EC 2.1.1.-) (H4-K20-HMTase KMT5A) (Histone-lysine N-methyltransferase KMT5A) (EC 2.1.1.43) (Lysine N-methyltransferase 5A) (Lysine-specific methylase 5A) (PR/SET domain-containing protein 07) (PR-Set7) (PR/SET07) (SET domain-containing protein 8)

sequence:

opentargets:
chromosome [GO:0005694]; cytosol [GO:0005829]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; histone methyltransferase activity (H4-K20 specific) [GO:0042799]; histone-lysine N-methyltransferase activity [GO:0018024]; lysine N-methyltransferase activity [GO:0016278]; p53 binding [GO:0002039]; protein-lysine N-methyltransferase activity [GO:0016279]; transcription corepressor activity [GO:0003714]; cell cycle [GO:0007049]; cell division [GO:0051301]; negative regulation of transcription by RNA polymerase II [GO:0000122]; negative regulation of transcription, DNA-templated [GO:0045892]; peptidyl-lysine monomethylation [GO:0018026]; regulation of DNA damage response, signal transduction by p53 class mediator [GO:0043516]; regulation of signal transduction by p53 class mediator [GO:1901796]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9NQR1-1; Sequence=Displayed; Name=2; IsoId=Q9NQR1-2; Sequence=VSP_002226, VSP_002227; 

location:
SUBCELLULAR LOCATION: Nucleus. Chromosome. Note=Specifically localizes to mitotic chromosomes. Colocalized with SIRT2 at mitotic foci. Associates with chromosomes during mitosis; association is increased in a H(2)O(2)-induced oxidative stress-dependent manner. Associates with silent chromatin on euchromatic arms. Not associated with constitutive heterochromatin.


uniprotID: Q569H4
geneSymbol: PRR16
name: Protein Largen (Mesenchymal stem cell protein DSC54) (Proline-rich protein 16)
length: 304
go: ENSG00000184838;
opentargets: positive regulation of cell size [GO:0045793]; positive regulation of translation [GO:0045727]
snps: rs17853861
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q569H4-1; Sequence=Displayed; Name=2; IsoId=Q569H4-2; Sequence=VSP_028880; Name=3; IsoId=Q569H4-3; Sequence=VSP_028881; Note=No experimental confirmation available.; 


uniprotID: P05162
geneSymbol: LGALS2
pdb: 1HLC;5DG1;5DG2;5EWS;
length: 132
go: ENSG00000100079;
opentargets: carbohydrate binding [GO:0030246]; galactoside binding [GO:0016936]
drug: DB02379;
snps: rs2235339
name:
Galectin-2 (Gal-2) (Beta-galactoside-binding lectin L-14-II) (HL14) (Lactose-binding lectin 2) (S-Lac lectin 2)

sequence:
MTGELEVKNMDMKPGSTLKITGSIADGTDGFVINLGQGTDKLNLHFNPRFSESTIVCNSLDGSNWGQEQREDHLCFSPGSEVKFTVTFESDKFKVKLPDGHELTFPNRLGHSHLSYLSVRGGFNMSSFKLKE


uniprotID: P60372
geneSymbol: KRTAP10-4
reactome: R-HSA-6805567;
length: 401
opentargets: cytosol [GO:0005829]; keratin filament [GO:0045095]; keratinization [GO:0031424]
snps: rs233285 rs396912
name:
Keratin-associated protein 10-4 (High sulfur keratin-associated protein 10.4) (Keratin-associated protein 10.4) (Keratin-associated protein 18-4) (Keratin-associated protein 18.4)

sequence:


uniprotID: P48357
geneSymbol: LEPR
reactome: R-HSA-2586552;
pdb: 3V6O;6E2P;
name: Leptin receptor (LEP-R) (HuB219) (OB receptor) (OB-R) (CD antigen CD295)
length: 1165
go: ENSG00000116678;
drug: DB05098;DB09046;
snps: rs1137100 rs35573508 rs146442768 rs1137101 rs13306526 rs1805094 rs373154589 rs34499590
sequence:

opentargets:
basolateral plasma membrane [GO:0016323]; external side of plasma membrane [GO:0009897]; extracellular region [GO:0005576]; integral component of membrane [GO:0016021]; receptor complex [GO:0043235]; cytokine binding [GO:0019955]; cytokine receptor activity [GO:0004896]; identical protein binding [GO:0042802]; leptin receptor activity [GO:0038021]; peptide hormone binding [GO:0017046]; transmembrane signaling receptor activity [GO:0004888]; angiogenesis [GO:0001525]; bone growth [GO:0098868]; cell surface receptor signaling pathway [GO:0007166]; cholesterol metabolic process [GO:0008203]; energy homeostasis [GO:0097009]; energy reserve metabolic process [GO:0006112]; glucose homeostasis [GO:0042593]; leptin-mediated signaling pathway [GO:0033210]; multicellular organism development [GO:0007275]; negative regulation of autophagy [GO:0010507]; negative regulation of gluconeogenesis [GO:0045721]; negative regulation of hydrolase activity [GO:0051346]; phagocytosis [GO:0006909]; positive regulation of cold-induced thermogenesis [GO:0120162]; regulation of bone remodeling [GO:0046850]; regulation of feeding behavior [GO:0060259]; response to leptin [GO:0044321]; sexual reproduction [GO:0019953]; T cell differentiation [GO:0030217]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=5;  Name=B; Synonyms=13.2, OBRb; IsoId=P48357-1; Sequence=Displayed; Name=A; Synonyms=6.4, HuB219.3; IsoId=P48357-2; Sequence=VSP_001689, VSP_001690; Name=C; Synonyms=12.1, OBRa; IsoId=P48357-3; Sequence=VSP_001691, VSP_001692; Name=D; Synonyms=HuB219.2; IsoId=P48357-4; Sequence=VSP_001693, VSP_001694; Name=E; IsoId=P48357-5; Sequence=VSP_001688; 

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:19159218}; Single-pass type I membrane protein {ECO:0000305}. Basolateral cell membrane {ECO:0000269|PubMed:19159218}.; SUBCELLULAR LOCATION: Isoform E: Secreted {ECO:0000250|UniProtKB:P48356}.


uniprotID: Q96DT5
geneSymbol: DNAH11
length: 4516
go: ENSG00000105877;
location: SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton, cilium axoneme.
name:
Dynein heavy chain 11, axonemal (Axonemal beta dynein heavy chain 11) (Ciliary dynein heavy chain 11)

sequence:

opentargets:
9+0 motile cilium [GO:0097728]; 9+2 motile cilium [GO:0097729]; dynein complex [GO:0030286]; microtubule [GO:0005874]; proximal portion of axoneme [GO:0120134]; ATP binding [GO:0005524]; ATP-dependent microtubule motor activity, minus-end-directed [GO:0008569]; dynein intermediate chain binding [GO:0045505]; dynein light chain binding [GO:0045503]; dynein light intermediate chain binding [GO:0051959]; cardiac septum morphogenesis [GO:0060411]; determination of heart left/right asymmetry [GO:0061371]; determination of left/right asymmetry in nervous system [GO:0035545]; determination of left/right symmetry [GO:0007368]; epithelial cilium movement involved in determination of left/right asymmetry [GO:0060287]; flagellated sperm motility [GO:0030317]; learning or memory [GO:0007611]; microtubule-based movement [GO:0007018]; regulation of cilium beat frequency [GO:0003356]; sperm flagellum movement involved in flagellated sperm motility [GO:1905419]

snps:
rs398123604 rs2285944 rs72655968 rs12670130 rs62441683 rs10269582 rs10224537 rs17144788 rs17144835 rs72657353 rs2003417 rs9639393 rs72657364 rs35865357 rs2214326 rs4722064 rs17145720 rs6461613 rs12537531 rs72658826 


uniprotID: A2CJ06
geneSymbol: DYTN
name: Dystrotelin
length: 578
go: ENSG00000232125;
opentargets: plasma membrane [GO:0005886]; zinc ion binding [GO:0008270]
snps: rs16838593 rs2115591
location: SUBCELLULAR LOCATION: Cell membrane {ECO:0000250}.
sequence:


uniprotID: Q96C11
geneSymbol: FGGY
name: FGGY carbohydrate kinase domain-containing protein (EC 2.7.1.-)
length: 551
go: ENSG00000172456;
snps: rs835409 rs11207463 rs11207463
sequence:

opentargets:
cell [GO:0005623]; D-ribulokinase activity [GO:0019150]; carbohydrate phosphorylation [GO:0046835]; neuron cellular homeostasis [GO:0070050]; pentose metabolic process [GO:0019321]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=6;  Name=1; IsoId=Q96C11-1; Sequence=Displayed; Name=2; IsoId=Q96C11-2; Sequence=VSP_032658, VSP_032659; Note=No experimental confirmation available.; Name=3; IsoId=Q96C11-4; Sequence=VSP_032658; Note=No experimental confirmation available.; Name=4; IsoId=Q96C11-3; Sequence=VSP_033424; Note=No experimental confirmation available.; Name=5; IsoId=Q96C11-5; Sequence=VSP_045338; Name=6; IsoId=Q96C11-6; Sequence=VSP_054533; Note=No experimental confirmation available.; 


uniprotID: O75822
geneSymbol: EIF3J
reactome: R-HSA-156827;R-HSA-72649;R-HSA-72689;R-HSA-72695;R-HSA-72702;R-HSA-72706;
pdb: 2KRB;3BPJ;
length: 258
go: ENSG00000104131;
snps: rs2303578
location: SUBCELLULAR LOCATION: Cytoplasm {ECO:0000255|HAMAP-Rule:MF_03009}.
name:
Eukaryotic translation initiation factor 3 subunit J (eIF3j) (Eukaryotic translation initiation factor 3 subunit 1) (eIF-3-alpha) (eIF3 p35)

sequence:

opentargets:
cytosol [GO:0005829]; eukaryotic 43S preinitiation complex [GO:0016282]; eukaryotic 48S preinitiation complex [GO:0033290]; eukaryotic translation initiation factor 3 complex [GO:0005852]; translation initiation factor activity [GO:0003743]; formation of cytoplasmic translation initiation complex [GO:0001732]; translational initiation [GO:0006413]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=O75822-1; Sequence=Displayed; Name=2; IsoId=O75822-2; Sequence=VSP_054593; Note=No experimental confirmation available.; Name=3; IsoId=O75822-3; Sequence=VSP_054776; Note=No experimental confirmation available.; 


uniprotID: Q9UBQ5
geneSymbol: EIF3K
reactome: R-HSA-156827;R-HSA-72649;R-HSA-72689;R-HSA-72695;R-HSA-72702;R-HSA-72706;
pdb: 1RZ4;3J8B;3J8C;6FEC;
length: 218
go: ENSG00000178982;
name:
Eukaryotic translation initiation factor 3 subunit K (eIF3k) (Eukaryotic translation initiation factor 3 subunit 12) (Muscle-specific gene M9 protein) (PLAC-24) (eIF-3 p25) (eIF-3 p28)

sequence:

opentargets:
cytosol [GO:0005829]; eukaryotic 43S preinitiation complex [GO:0016282]; eukaryotic 48S preinitiation complex [GO:0033290]; eukaryotic translation initiation factor 3 complex [GO:0005852]; membrane [GO:0016020]; nucleus [GO:0005634]; ribosome binding [GO:0043022]; translation initiation factor activity [GO:0003743]; formation of cytoplasmic translation initiation complex [GO:0001732]; regulation of translational initiation [GO:0006446]; translational initiation [GO:0006413]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9UBQ5-1; Sequence=Displayed; Name=2; IsoId=Q9UBQ5-2; Sequence=VSP_055475; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000255|HAMAP-Rule:MF_03010, ECO:0000269|PubMed:15327989}. Cytoplasm {ECO:0000255|HAMAP-Rule:MF_03010, ECO:0000269|PubMed:15327989}.


uniprotID: Q7L2H7
geneSymbol: EIF3M
reactome: R-HSA-156827;R-HSA-72649;R-HSA-72689;R-HSA-72695;R-HSA-72702;R-HSA-72706;
pdb: 3J8B;3J8C;6FEC;
length: 374
go: ENSG00000149100;
snps: rs11557143 rs1802363
location: SUBCELLULAR LOCATION: Cytoplasm {ECO:0000255|HAMAP-Rule:MF_03012}.
name:
Eukaryotic translation initiation factor 3 subunit M (eIF3m) (Fetal lung protein B5) (hFL-B5) (PCI domain-containing protein 1)

sequence:

opentargets:
cytosol [GO:0005829]; eukaryotic 43S preinitiation complex [GO:0016282]; eukaryotic 48S preinitiation complex [GO:0033290]; eukaryotic translation initiation factor 3 complex [GO:0005852]; eukaryotic translation initiation factor 3 complex, eIF3m [GO:0071541]; translation initiation factor activity [GO:0003743]; translation initiation factor binding [GO:0031369]; cytoplasmic translational initiation [GO:0002183]; formation of cytoplasmic translation initiation complex [GO:0001732]; translational initiation [GO:0006413]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q7L2H7-1; Sequence=Displayed; Name=2; IsoId=Q7L2H7-2; Sequence=VSP_056911; Note=No experimental confirmation available.; 


uniprotID: Q12926
geneSymbol: ELAVL2
reactome: R-HSA-72163;
length: 359
go: ENSG00000107105;
name:
ELAV-like protein 2 (ELAV-like neuronal protein 1) (Hu-antigen B) (HuB) (Nervous system-specific RNA-binding protein Hel-N1)

sequence:

opentargets:
nucleoplasm [GO:0005654]; mRNA 3'-UTR binding [GO:0003730]; RNA binding [GO:0003723]; mRNA splicing, via spliceosome [GO:0000398]; regulation of transcription, DNA-templated [GO:0006355]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q12926-1; Sequence=Displayed; Name=2; IsoId=Q12926-2; Sequence=VSP_005788; 


uniprotID: Q14576
geneSymbol: ELAVL3
length: 367
go: ENSG00000196361;
name:
ELAV-like protein 3 (Hu-antigen C) (HuC) (Paraneoplastic cerebellar degeneration-associated antigen) (Paraneoplastic limbic encephalitis antigen 21)

sequence:

opentargets:
AU-rich element binding [GO:0017091]; cell differentiation [GO:0030154]; nervous system development [GO:0007399]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q14576-1; Sequence=Displayed; Name=2; IsoId=Q14576-2; Sequence=VSP_005789; 


uniprotID: P60002
geneSymbol: ELOF1
name: Transcription elongation factor 1 homolog
sequence: MGRRKSKRKPPPKKKMTGTLETQFTCPFCNHEKSCDVKMDRARNTGVISCTVCLEEFQTPITYLSEPVDVYSDWIDACEAANQ
length: 83
go: ENSG00000130165;
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000250}.
opentargets:
transcription elongation factor complex [GO:0008023]; metal ion binding [GO:0046872]; RNA polymerase II complex binding [GO:0000993]; chromatin-mediated maintenance of transcription [GO:0048096]; transcription elongation from RNA polymerase II promoter [GO:0006368]


uniprotID: P0C7U0
geneSymbol: ELFN1
length: 828
go: ENSG00000225968;
name:
Protein ELFN1 (Extracellular leucine-rich repeat and fibronectin type-III domain-containing protein 1) (Protein phosphatase 1 regulatory subunit 28)

sequence:

opentargets:
dendrite [GO:0030425]; excitatory synapse [GO:0060076]; extracellular matrix [GO:0031012]; extracellular space [GO:0005615]; integral component of membrane [GO:0016021]; protein phosphatase inhibitor activity [GO:0004864]; negative regulation of phosphatase activity [GO:0010923]; synapse organization [GO:0050808]

location:
SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Single-pass type I membrane protein {ECO:0000305}. Cell projection, dendrite {ECO:0000250}. Note=Localizes to excitatory synapses onto somatostatin (Sst)-containing oriens-lacunosum moleculare (O-LM) interneurons. {ECO:0000250}.


uniprotID: Q8IZ81
geneSymbol: ELMOD2
name: ELMO domain-containing protein 2
length: 293
go: ENSG00000179387;
sequence:

opentargets:
membrane [GO:0016020]; GTPase activator activity [GO:0005096]; defense response to virus [GO:0051607]; regulation of defense response to virus [GO:0050688]


uniprotID: P02679
geneSymbol: FGG
name: Fibrinogen gamma chain
length: 453
go: ENSG00000171557;
drug: DB00364;
reactome:
R-HSA-114608;R-HSA-140875;R-HSA-216083;R-HSA-354192;R-HSA-354194;R-HSA-372708;R-HSA-381426;R-HSA-5674135;R-HSA-5686938;R-HSA-6802946;R-HSA-6802948;R-HSA-6802949;R-HSA-6802952;R-HSA-6802955;R-HSA-8957275;

pdb:
1DUG;1FIB;1FIC;1FID;1FZA;1FZB;1FZC;1FZE;1FZF;1FZG;1LT9;1LTJ;1N86;1N8E;1RE3;1RE4;1RF0;1RF1;2A45;2FFD;2FIB;2H43;2HLO;2HOD;2HPC;2HWL;2OYH;2OYI;2Q9I;2VDO;2VDP;2VDQ;2VDR;2VR3;2XNX;2XNY;2Y7L;2Z4E;3BVH;3E1I;3FIB;3GHG;3H32;3HUS;4B60;

sequence:

opentargets:
blood microparticle [GO:0072562]; cell surface [GO:0009986]; collagen-containing extracellular matrix [GO:0062023]; endoplasmic reticulum lumen [GO:0005788]; external side of plasma membrane [GO:0009897]; extracellular exosome [GO:0070062]; extracellular region [GO:0005576]; extracellular space [GO:0005615]; fibrinogen complex [GO:0005577]; plasma membrane [GO:0005886]; platelet alpha granule [GO:0031091]; platelet alpha granule lumen [GO:0031093]; cell adhesion molecule binding [GO:0050839]; extracellular matrix structural constituent [GO:0005201]; metal ion binding [GO:0046872]; protein homodimerization activity [GO:0042803]; signaling receptor binding [GO:0005102]; structural molecule activity [GO:0005198]; blood coagulation [GO:0007596]; blood coagulation, fibrin clot formation [GO:0072378]; cell-matrix adhesion [GO:0007160]; cellular protein metabolic process [GO:0044267]; cellular protein-containing complex assembly [GO:0034622]; cellular response to interleukin-1 [GO:0071347]; cellular response to interleukin-6 [GO:0071354]; extracellular matrix organization [GO:0030198]; fibrinolysis [GO:0042730]; negative regulation of endothelial cell apoptotic process [GO:2000352]; negative regulation of extrinsic apoptotic signaling pathway via death domain receptors [GO:1902042]; negative regulation of platelet aggregation [GO:0090331]; plasminogen activation [GO:0031639]; platelet aggregation [GO:0070527]; platelet degranulation [GO:0002576]; platelet maturation [GO:0036345]; positive regulation of ERK1 and ERK2 cascade [GO:0070374]; positive regulation of exocytosis [GO:0045921]; positive regulation of heterotypic cell-cell adhesion [GO:0034116]; positive regulation of peptide hormone secretion [GO:0090277]; positive regulation of protein secretion [GO:0050714]; positive regulation of substrate adhesion-dependent cell spreading [GO:1900026]; positive regulation of vasoconstriction [GO:0045907]; post-translational protein modification [GO:0043687]; protein polymerization [GO:0051258]; protein secretion [GO:0009306]; response to calcium ion [GO:0051592]; toll-like receptor signaling pathway [GO:0002224]

snps:
rs11551835 rs2066870 rs6063 rs121913087 rs121913088 rs121913089 rs121913090 rs121913091 rs121913092 rs121913094 rs121913093 rs75848804 rs75848804 rs587777720 rs6061 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=Gamma-B; Synonyms=Gamma'; IsoId=P02679-1; Sequence=Displayed; Note=Present in about 10% of the fibrinogen molecules in plasma but absent from those in the platelets.; Name=Gamma-A; IsoId=P02679-2; Sequence=VSP_001537; 

location:
SUBCELLULAR LOCATION: Secreted {ECO:0000269|PubMed:10074346, ECO:0000269|PubMed:19296670, ECO:0000269|PubMed:9628725}.


uniprotID: Q8TAL6
geneSymbol: FIBIN
name: Fin bud initiation factor homolog
length: 211
go: ENSG00000176971;
sequence:

opentargets:
endoplasmic reticulum [GO:0005783]; extracellular region [GO:0005576]; Golgi apparatus [GO:0005794]; protein homodimerization activity [GO:0042803]; protein kinase C signaling [GO:0070528]; response to dexamethasone [GO:0071548]; response to manganese ion [GO:0010042]

location:
SUBCELLULAR LOCATION: Secreted {ECO:0000250}. Golgi apparatus {ECO:0000250}. Endoplasmic reticulum {ECO:0000269|PubMed:21615908}.


uniprotID: P29317
geneSymbol: EPHA2
reactome: R-HSA-2682334;R-HSA-3928663;R-HSA-3928665;
length: 976
go: ENSG00000142627;
drug: DB01254;DB04395;DB08896;
pdb:
1MQB;2E8N;2K9Y;2KSO;2X10;2X11;3C8X;3CZU;3FL7;3HEI;3HPN;3KKA;3MBW;3MX0;3SKJ;4P2K;4PDO;4TRL;5EK7;5I9U;5I9V;5I9W;5I9X;5I9Y;5I9Z;5IA0;5IA1;5IA2;5IA3;5IA4;5IA5;5NJZ;5NK0;5NK1;5NK2;5NK3;5NK4;5NK5;5NK6;5NK7;5NK8;5NK9;5NKA;5NKB;5NKC;5NKD;5NKE;5NKF;5NKG;5NKH;5NKI;5NZ9;6F7M;6F7N;6FNF;6FNG;6FNH;

name:
Ephrin type-A receptor 2 (EC 2.7.10.1) (Epithelial cell kinase) (Tyrosine-protein kinase receptor ECK)

sequence:

opentargets:
cell surface [GO:0009986]; cytoplasm [GO:0005737]; focal adhesion [GO:0005925]; integral component of plasma membrane [GO:0005887]; lamellipodium [GO:0030027]; lamellipodium membrane [GO:0031258]; leading edge membrane [GO:0031256]; neuron projection [GO:0043005]; plasma membrane [GO:0005886]; receptor complex [GO:0043235]; ruffle membrane [GO:0032587]; tight junction [GO:0070160]; ATP binding [GO:0005524]; cadherin binding [GO:0045296]; transmembrane receptor protein tyrosine kinase activity [GO:0004714]; transmembrane signaling receptor activity [GO:0004888]; transmembrane-ephrin receptor activity [GO:0005005]; virus receptor activity [GO:0001618]; activation of GTPase activity [GO:0090630]; axial mesoderm formation [GO:0048320]; blood vessel endothelial cell proliferation involved in sprouting angiogenesis [GO:0002043]; bone remodeling [GO:0046849]; branching involved in mammary gland duct morphogenesis [GO:0060444]; cAMP metabolic process [GO:0046058]; cell adhesion [GO:0007155]; cell chemotaxis [GO:0060326]; cell differentiation [GO:0030154]; cell migration [GO:0016477]; cell motility [GO:0048870]; defense response to Gram-positive bacterium [GO:0050830]; ephrin receptor signaling pathway [GO:0048013]; inflammatory response [GO:0006954]; intrinsic apoptotic signaling pathway in response to DNA damage [GO:0008630]; keratinocyte differentiation [GO:0030216]; lens fiber cell morphogenesis [GO:0070309]; mammary gland epithelial cell proliferation [GO:0033598]; multicellular organism development [GO:0007275]; negative regulation of angiogenesis [GO:0016525]; negative regulation of apoptotic process [GO:0043066]; negative regulation of chemokine production [GO:0032682]; negative regulation of lymphangiogenesis [GO:1901491]; negative regulation of protein kinase B signaling [GO:0051898]; negative regulation of signal transduction [GO:0009968]; neural tube development [GO:0021915]; neuron differentiation [GO:0030182]; notochord cell development [GO:0060035]; notochord formation [GO:0014028]; osteoblast differentiation [GO:0001649]; osteoclast differentiation [GO:0030316]; pericyte cell differentiation [GO:1904238]; positive regulation of bicellular tight junction assembly [GO:1903348]; positive regulation of ERK1 and ERK2 cascade [GO:0070374]; positive regulation of protein localization to plasma membrane [GO:1903078]; post-anal tail morphogenesis [GO:0036342]; protein kinase B signaling [GO:0043491]; protein localization to plasma membrane [GO:0072659]; regulation of angiogenesis [GO:0045765]; regulation of blood vessel endothelial cell migration [GO:0043535]; regulation of cell adhesion mediated by integrin [GO:0033628]; regulation of ERK1 and ERK2 cascade [GO:0070372]; regulation of lamellipodium assembly [GO:0010591]; response to growth factor [GO:0070848]; skeletal system development [GO:0001501]; vasculogenesis [GO:0001570]

snps:
rs1058372 rs34192549 rs55747232 rs56198600 rs34021505 rs116506614 rs922655349 rs35903225 rs137853200 rs137853199 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P29317-1; Sequence=Displayed; Name=2; IsoId=P29317-2; Sequence=VSP_056014, VSP_056015; 

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:18794797, ECO:0000269|PubMed:19573808, ECO:0000269|PubMed:20223987, ECO:0000269|PubMed:20861311}; Single-pass type I membrane protein {ECO:0000255}. Cell projection, ruffle membrane {ECO:0000269|PubMed:19573808}; Single-pass type I membrane protein {ECO:0000255}. Cell projection, lamellipodium membrane {ECO:0000269|PubMed:19573808}; Single-pass type I membrane protein {ECO:0000255}. Cell junction, focal adhesion {ECO:0000269|PubMed:10655584}. Note=Present at regions of cell-cell contacts but also at the leading edge of migrating cells (PubMed:19573808, PubMed:20861311). Relocates from the plasma membrane to the cytoplasmic and perinuclear regions in cancer cells (PubMed:18794797). {ECO:0000269|PubMed:18794797, ECO:0000269|PubMed:19573808, ECO:0000269|PubMed:20861311, ECO:0000269|PubMed:26158630}.


uniprotID: A8MYX2
geneSymbol: FAM25E
name: Protein FAM25E
length: 175
sequence:
MSQSVLAGGGIPEPHLGCPGTYRSIVRINGSALSPHPGLRGHEPALSPLPGLGGHWACSEPSPWTQEGSGPALSPHPGLWGQWACSEPSSWTRGQRACSEPSPWTCLLCSVHAMEEVVKEVVGHAKETGEKAIAEAIKKAQESGDKKMKEVTETVTNTVTNAITHAAESLGKLGQ


uniprotID: O95750
geneSymbol: FGF19
pdb: 1PWA;2P23;
name: Fibroblast growth factor 19 (FGF-19)
length: 216
go: ENSG00000162344;
location: SUBCELLULAR LOCATION: Secreted.
reactome:
R-HSA-109704;R-HSA-1257604;R-HSA-1307965;R-HSA-190322;R-HSA-2219530;R-HSA-5654228;R-HSA-5654712;R-HSA-5654719;R-HSA-5654720;R-HSA-5654733;R-HSA-5673001;R-HSA-6811558;

sequence:

opentargets:
extracellular region [GO:0005576]; intracellular [GO:0005622]; 1-phosphatidylinositol-3-kinase activity [GO:0016303]; fibroblast growth factor receptor binding [GO:0005104]; growth factor activity [GO:0008083]; phosphatidylinositol-4,5-bisphosphate 3-kinase activity [GO:0046934]; Ras guanyl-nucleotide exchange factor activity [GO:0005088]; fibroblast growth factor receptor signaling pathway [GO:0008543]; MAPK cascade [GO:0000165]; negative regulation of bile acid biosynthetic process [GO:0070858]; negative regulation of gene expression [GO:0010629]; nervous system development [GO:0007399]; positive regulation of cell proliferation [GO:0008284]; positive regulation of ERK1 and ERK2 cascade [GO:0070374]; positive regulation of glucose import [GO:0046326]; positive regulation of JNK cascade [GO:0046330]; positive regulation of protein kinase B signaling [GO:0051897]; positive regulation of protein phosphorylation [GO:0001934]


uniprotID: Q9HCT0
geneSymbol: FGF22
name: Fibroblast growth factor 22 (FGF-22)
length: 170
go: ENSG00000070388;
location: SUBCELLULAR LOCATION: Secreted {ECO:0000305}.
reactome:
R-HSA-109704;R-HSA-1257604;R-HSA-190370;R-HSA-190377;R-HSA-2033519;R-HSA-2219530;R-HSA-5654219;R-HSA-5654221;R-HSA-5654687;R-HSA-5654688;R-HSA-5654689;R-HSA-5654693;R-HSA-5654695;R-HSA-5654699;R-HSA-5654700;R-HSA-5654726;R-HSA-5654727;R-HSA-5655253;R-HSA-5658623;R-HSA-5673001;R-HSA-6811558;

sequence:
MRRRLWLGLAWLLLARAPDAAGTPSASRGPRSYPHLEGDVRWRRLFSSTHFFLRVDPGGRVQGTRWRHGQDSILEIRSVHVGVVVIKAVSSGFYVAMNRRGRLYGSRLYTVDCRFRERIEENGHNTYASQRWRRRGQPMFLALDRRGGPRPGGRTRRYHLSAHFLPVLVS

opentargets:
cell surface [GO:0009986]; extracellular region [GO:0005576]; extracellular space [GO:0005615]; Golgi apparatus [GO:0005794]; nucleolus [GO:0005730]; 1-phosphatidylinositol-3-kinase activity [GO:0016303]; fibroblast growth factor receptor binding [GO:0005104]; growth factor activity [GO:0008083]; phosphatidylinositol-4,5-bisphosphate 3-kinase activity [GO:0046934]; protein tyrosine kinase activity [GO:0004713]; Ras guanyl-nucleotide exchange factor activity [GO:0005088]; cell differentiation [GO:0030154]; fibroblast growth factor receptor signaling pathway [GO:0008543]; MAPK cascade [GO:0000165]; positive regulation of protein kinase B signaling [GO:0051897]


uniprotID: Q9GZV9
geneSymbol: FGF23
pdb: 2P39;5W21;
length: 251
go: ENSG00000118972;
reactome:
R-HSA-109704;R-HSA-1257604;R-HSA-1839122;R-HSA-1839130;R-HSA-190322;R-HSA-190372;R-HSA-190373;R-HSA-190374;R-HSA-190375;R-HSA-2033514;R-HSA-2033519;R-HSA-2219530;R-HSA-381426;R-HSA-5654219;R-HSA-5654221;R-HSA-5654227;R-HSA-5654228;R-HSA-5654687;R-HSA-5654688;R-HSA-5654689;R-HSA-5654693;R-HSA-5654695;R-HSA-5654699;R-HSA-5654700;R-HSA-5654704;R-HSA-5654706;R-HSA-5654710;R-HSA-5654712;R-HSA-5654719;R-HSA-5654720;R-HSA-5654726;R-HSA-5654727;R-HSA-5654732;R-HSA-5654733;R-HSA-5655253;R-HSA-5655302;R-HSA-5658623;R-HSA-5673001;R-HSA-6811558;R-HSA-8853338;R-HSA-8957275;

name:
Fibroblast growth factor 23 (FGF-23) (Phosphatonin) (Tumor-derived hypophosphatemia-inducing factor) [Cleaved into: Fibroblast growth factor 23 N-terminal peptide; Fibroblast growth factor 23 C-terminal peptide]

sequence:

opentargets:
endoplasmic reticulum lumen [GO:0005788]; extracellular region [GO:0005576]; extracellular space [GO:0005615]; Golgi lumen [GO:0005796]; 1-phosphatidylinositol-3-kinase activity [GO:0016303]; growth factor activity [GO:0008083]; phosphatidylinositol-4,5-bisphosphate 3-kinase activity [GO:0046934]; protein tyrosine kinase activity [GO:0004713]; Ras guanyl-nucleotide exchange factor activity [GO:0005088]; type 1 fibroblast growth factor receptor binding [GO:0005105]; cell differentiation [GO:0030154]; cellular phosphate ion homeostasis [GO:0030643]; cellular protein metabolic process [GO:0044267]; cellular response to interleukin-6 [GO:0071354]; cellular response to leptin stimulus [GO:0044320]; cellular response to parathyroid hormone stimulus [GO:0071374]; cellular response to vitamin D [GO:0071305]; fibroblast growth factor receptor signaling pathway [GO:0008543]; MAPK cascade [GO:0000165]; negative regulation of bone mineralization [GO:0030502]; negative regulation of hormone secretion [GO:0046888]; negative regulation of osteoblast differentiation [GO:0045668]; phosphate ion homeostasis [GO:0055062]; positive regulation of ERK1 and ERK2 cascade [GO:0070374]; positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathway [GO:0090080]; positive regulation of protein kinase B signaling [GO:0051897]; positive regulation of transcription, DNA-templated [GO:0045893]; positive regulation of vitamin D 24-hydroxylase activity [GO:0010980]; post-translational protein modification [GO:0043687]; regulation of phosphate transport [GO:0010966]; response to magnesium ion [GO:0032026]; response to sodium phosphate [GO:1904383]; vitamin D catabolic process [GO:0042369]

snps:
rs104894342 rs104894343 rs104894344 rs772964687 rs104894347 rs193922702 rs28937882 rs13312793 rs7955866 

location:
SUBCELLULAR LOCATION: Secreted {ECO:0000269|PubMed:16638743}. Note=Secretion is dependent on O-glycosylation.


uniprotID: P12034
geneSymbol: FGF5
name: Fibroblast growth factor 5 (FGF-5) (Heparin-binding growth factor 5) (HBGF-5) (Smag-82)
length: 268
go: ENSG00000138675;
snps: rs33950145 rs587777581
location: SUBCELLULAR LOCATION: Secreted {ECO:0000305}.
reactome:
R-HSA-109704;R-HSA-1257604;R-HSA-1839122;R-HSA-1839130;R-HSA-190372;R-HSA-190373;R-HSA-190375;R-HSA-2033514;R-HSA-2033519;R-HSA-2219530;R-HSA-5654219;R-HSA-5654221;R-HSA-5654227;R-HSA-5654687;R-HSA-5654688;R-HSA-5654689;R-HSA-5654693;R-HSA-5654695;R-HSA-5654699;R-HSA-5654700;R-HSA-5654704;R-HSA-5654706;R-HSA-5654710;R-HSA-5654726;R-HSA-5654727;R-HSA-5654732;R-HSA-5655253;R-HSA-5655302;R-HSA-5658623;R-HSA-5673001;R-HSA-6811558;R-HSA-8853338;

sequence:

opentargets:
extracellular region [GO:0005576]; extracellular space [GO:0005615]; intracellular [GO:0005622]; 1-phosphatidylinositol-3-kinase activity [GO:0016303]; fibroblast growth factor receptor binding [GO:0005104]; growth factor activity [GO:0008083]; phosphatidylinositol-4,5-bisphosphate 3-kinase activity [GO:0046934]; protein tyrosine kinase activity [GO:0004713]; Ras guanyl-nucleotide exchange factor activity [GO:0005088]; cell proliferation [GO:0008283]; cell-cell signaling [GO:0007267]; fibroblast growth factor receptor signaling pathway [GO:0008543]; glial cell differentiation [GO:0010001]; MAPK cascade [GO:0000165]; nervous system development [GO:0007399]; positive regulation of cell division [GO:0051781]; positive regulation of cell proliferation [GO:0008284]; positive regulation of protein kinase B signaling [GO:0051897]; signal transduction involved in regulation of gene expression [GO:0023019]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=Long; IsoId=P12034-1; Sequence=Displayed; Name=Short; Synonyms=FGF-5S; IsoId=P12034-2; Sequence=VSP_001518, VSP_001519; Note=Seems to have an antagonistic effect compared to that of the isoform Long.; 


uniprotID: Q8IUX8
geneSymbol: EGFL6
length: 553
go: ENSG00000198759;
snps: rs16979010 rs34613284 rs34550481 rs16979033
name:
Epidermal growth factor-like protein 6 (EGF-like protein 6) (MAM and EGF domains-containing gene protein)

sequence:

opentargets:
basement membrane [GO:0005604]; extracellular space [GO:0005615]; membrane [GO:0016020]; calcium ion binding [GO:0005509]; integrin binding [GO:0005178]; cell adhesion [GO:0007155]; cell differentiation [GO:0030154]; extracellular matrix organization [GO:0030198]; multicellular organism development [GO:0007275]; positive regulation of cell-substrate adhesion [GO:0010811]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q8IUX8-1; Sequence=Displayed; Name=2; IsoId=Q8IUX8-2; Sequence=VSP_027089; 


uniprotID: Q9H4M9
geneSymbol: EHD1
reactome: R-HSA-983231;
pdb: 2JQ6;2KFF;2KFG;2KFH;2KSP;
name: EH domain-containing protein 1 (PAST homolog 1) (hPAST1) (Testilin)
length: 534
go: ENSG00000110047;
sequence:

opentargets:
ciliary pocket membrane [GO:0020018]; early endosome membrane [GO:0031901]; endosome membrane [GO:0010008]; extracellular exosome [GO:0070062]; lipid droplet [GO:0005811]; membrane [GO:0016020]; plasma membrane [GO:0005886]; platelet dense tubular network membrane [GO:0031095]; recycling endosome membrane [GO:0055038]; ATP binding [GO:0005524]; cadherin binding [GO:0045296]; calcium ion binding [GO:0005509]; GTP binding [GO:0005525]; identical protein binding [GO:0042802]; Rab GTPase binding [GO:0017137]; blood coagulation [GO:0007596]; cellular response to nerve growth factor stimulus [GO:1990090]; cholesterol homeostasis [GO:0042632]; cilium assembly [GO:0060271]; endocytic recycling [GO:0032456]; endocytosis [GO:0006897]; intracellular protein transport [GO:0006886]; low-density lipoprotein particle clearance [GO:0034383]; neuron projection development [GO:0031175]; positive regulation of cholesterol storage [GO:0010886]; positive regulation of endocytic recycling [GO:2001137]; positive regulation of myoblast fusion [GO:1901741]; protein homooligomerization [GO:0051260]; protein localization to cilium [GO:0061512]

location:
SUBCELLULAR LOCATION: Recycling endosome membrane {ECO:0000269|PubMed:15020713, ECO:0000269|PubMed:17233914, ECO:0000269|PubMed:19864458, ECO:0000269|PubMed:23596323}; Peripheral membrane protein {ECO:0000305}; Cytoplasmic side {ECO:0000305}. Early endosome membrane {ECO:0000269|PubMed:15020713}; Peripheral membrane protein {ECO:0000305}; Cytoplasmic side {ECO:0000305}. Cell membrane {ECO:0000250|UniProtKB:Q9WVK4}; Peripheral membrane protein {ECO:0000305}; Cytoplasmic side {ECO:0000305}. Cell projection, cilium membrane {ECO:0000269|PubMed:25686250}; Peripheral membrane protein {ECO:0000305}; Cytoplasmic side {ECO:0000305}. Note=Preferentially associates with tubular recycling endosomes (PubMed:15020713, PubMed:17233914, PubMed:19864458, PubMed:23596323). Colocalizes with FER1L5 at plasma membrane in myoblasts and myotubes (By similarity). Localizes to the ciliary pocket from where the cilium protrudes (PubMed:25686250). Colocalizes with BACE1 in tubulovesicular cytoplasmic membranes. Colocalizes with BACE1 and APP amyloid beta proteins in hippocampal mossy fiber terminals (By similarity). {ECO:0000250|UniProtKB:Q9WVK4, ECO:0000269|PubMed:15020713, ECO:0000269|PubMed:17233914, ECO:0000269|PubMed:19864458, ECO:0000269|PubMed:23596323, ECO:0000269|PubMed:25686250}.


uniprotID: P31371
geneSymbol: FGF9
pdb: 1G82;1IHK;5W59;
length: 208
go: ENSG00000102678;
snps: rs12427696 rs121918322
location: SUBCELLULAR LOCATION: Secreted.
reactome:
R-HSA-109704;R-HSA-1257604;R-HSA-1839122;R-HSA-1839130;R-HSA-190322;R-HSA-190371;R-HSA-190372;R-HSA-190373;R-HSA-190375;R-HSA-2033514;R-HSA-2033519;R-HSA-2219530;R-HSA-5654219;R-HSA-5654221;R-HSA-5654227;R-HSA-5654228;R-HSA-5654687;R-HSA-5654688;R-HSA-5654689;R-HSA-5654693;R-HSA-5654695;R-HSA-5654699;R-HSA-5654700;R-HSA-5654704;R-HSA-5654706;R-HSA-5654710;R-HSA-5654712;R-HSA-5654719;R-HSA-5654720;R-HSA-5654726;R-HSA-5654727;R-HSA-5654732;R-HSA-5654733;R-HSA-5655253;R-HSA-5655302;R-HSA-5673001;R-HSA-6811558;R-HSA-8853338;

name:
Fibroblast growth factor 9 (FGF-9) (Glia-activating factor) (GAF) (Heparin-binding growth factor 9) (HBGF-9)

sequence:

opentargets:
basement membrane [GO:0005604]; cytoplasm [GO:0005737]; extracellular region [GO:0005576]; extracellular space [GO:0005615]; 1-phosphatidylinositol-3-kinase activity [GO:0016303]; fibroblast growth factor receptor binding [GO:0005104]; growth factor activity [GO:0008083]; heparin binding [GO:0008201]; phosphatidylinositol-4,5-bisphosphate 3-kinase activity [GO:0046934]; protein tyrosine kinase activity [GO:0004713]; Ras guanyl-nucleotide exchange factor activity [GO:0005088]; angiogenesis [GO:0001525]; cell-cell signaling [GO:0007267]; chondrocyte differentiation [GO:0002062]; embryonic digestive tract development [GO:0048566]; embryonic limb morphogenesis [GO:0030326]; embryonic skeletal system development [GO:0048706]; eye development [GO:0001654]; fibroblast growth factor receptor signaling pathway [GO:0008543]; inner ear morphogenesis [GO:0042472]; lung-associated mesenchyme development [GO:0060484]; male gonad development [GO:0008584]; male sex determination [GO:0030238]; MAPK cascade [GO:0000165]; negative regulation of transcription by RNA polymerase II [GO:0000122]; negative regulation of vascular smooth muscle cell differentiation involved in phenotypic switching [GO:1905931]; negative regulation of Wnt signaling pathway [GO:0030178]; osteoblast differentiation [GO:0001649]; positive regulation of activin receptor signaling pathway [GO:0032927]; positive regulation of canonical Wnt signaling pathway [GO:0090263]; positive regulation of cardiac muscle cell proliferation [GO:0060045]; positive regulation of cell division [GO:0051781]; positive regulation of cell proliferation [GO:0008284]; positive regulation of epithelial cell proliferation [GO:0050679]; positive regulation of gene expression [GO:0010628]; positive regulation of MAPK cascade [GO:0043410]; positive regulation of mesenchymal cell proliferation [GO:0002053]; positive regulation of protein kinase B signaling [GO:0051897]; positive regulation of smoothened signaling pathway [GO:0045880]; positive regulation of vascular associated smooth muscle cell migration [GO:1904754]; positive regulation of vascular endothelial growth factor receptor signaling pathway [GO:0030949]; positive regulation of vascular smooth muscle cell proliferation [GO:1904707]; protein import into nucleus [GO:0006606]; regulation of timing of cell differentiation [GO:0048505]; signal transduction [GO:0007165]; substantia nigra development [GO:0021762]


uniprotID: Q96KS0
geneSymbol: EGLN2
reactome: R-HSA-1234176;
pdb: 5V1B;
length: 407
go: ENSG00000269858;
drug: DB04847;DB00126;
name:
Egl nine homolog 2 (EC 1.14.11.29) (Estrogen-induced tag 6) (EIT-6) (HPH-3) (Hypoxia-inducible factor prolyl hydroxylase 1) (HIF-PH1) (HIF-prolyl hydroxylase 1) (HPH-1) (Prolyl hydroxylase domain-containing protein 1) (PHD1)

sequence:

opentargets:
nucleoplasm [GO:0005654]; nucleus [GO:0005634]; ferrous iron binding [GO:0008198]; L-ascorbic acid binding [GO:0031418]; oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors [GO:0016706]; oxygen sensor activity [GO:0019826]; peptidyl-proline 4-dioxygenase activity [GO:0031545]; cell redox homeostasis [GO:0045454]; intracellular estrogen receptor signaling pathway [GO:0030520]; peptidyl-proline hydroxylation to 4-hydroxy-L-proline [GO:0018401]; positive regulation of protein catabolic process [GO:0045732]; regulation of cell growth [GO:0001558]; regulation of neuron apoptotic process [GO:0043523]; regulation of transcription from RNA polymerase II promoter in response to hypoxia [GO:0061418]; response to hypoxia [GO:0001666]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative initiation; Named isoforms=2;  Name=p43; Synonyms=PHD1p43; IsoId=Q96KS0-1; Sequence=Displayed; Name=p40; Synonyms=PHD1p40; IsoId=Q96KS0-2; Sequence=VSP_038836; 

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:12163023, ECO:0000269|PubMed:12615973, ECO:0000269|PubMed:19339211, ECO:0000269|PubMed:19631610}.


uniprotID: P17813
geneSymbol: ENG
pdb: 5HZV;5HZW;5I04;
name: Endoglin (CD antigen CD105)
length: 658
go: ENSG00000106991;
sequence:

opentargets:
cell surface [GO:0009986]; endothelial microparticle [GO:0072563]; external side of plasma membrane [GO:0009897]; extracellular space [GO:0005615]; focal adhesion [GO:0005925]; receptor complex [GO:0043235]; transforming growth factor beta receptor complex [GO:0070022]; activin binding [GO:0048185]; galactose binding [GO:0005534]; glycosaminoglycan binding [GO:0005539]; identical protein binding [GO:0042802]; protein homodimerization activity [GO:0042803]; transforming growth factor beta binding [GO:0050431]; transforming growth factor beta receptor, cytoplasmic mediator activity [GO:0005072]; transforming growth factor beta-activated receptor activity [GO:0005024]; transmembrane signaling receptor activity [GO:0004888]; type I transforming growth factor beta receptor binding [GO:0034713]; type II transforming growth factor beta receptor binding [GO:0005114]; artery morphogenesis [GO:0048844]; atrial cardiac muscle tissue morphogenesis [GO:0055009]; atrioventricular canal morphogenesis [GO:1905222]; BMP signaling pathway [GO:0030509]; bone development [GO:0060348]; branching involved in blood vessel morphogenesis [GO:0001569]; cardiac atrium morphogenesis [GO:0003209]; cardiac ventricle morphogenesis [GO:0003208]; cell adhesion [GO:0007155]; cell chemotaxis [GO:0060326]; cell migration [GO:0016477]; cell migration involved in endocardial cushion formation [GO:0003273]; cell motility [GO:0048870]; cellular response to mechanical stimulus [GO:0071260]; central nervous system vasculogenesis [GO:0022009]; chronological cell aging [GO:0001300]; detection of hypoxia [GO:0070483]; dorsal aorta morphogenesis [GO:0035912]; endocardial cushion morphogenesis [GO:0003203]; epithelial to mesenchymal transition involved in endocardial cushion formation [GO:0003198]; extracellular matrix constituent secretion [GO:0070278]; extracellular matrix disassembly [GO:0022617]; heart looping [GO:0001947]; negative regulation of cell migration [GO:0030336]; negative regulation of endothelial cell proliferation [GO:0001937]; negative regulation of gene expression [GO:0010629]; negative regulation of nitric-oxide synthase activity [GO:0051001]; negative regulation of pathway-restricted SMAD protein phosphorylation [GO:0060394]; negative regulation of protein autophosphorylation [GO:0031953]; negative regulation of transcription by RNA polymerase II [GO:0000122]; negative regulation of transforming growth factor beta receptor signaling pathway [GO:0030512]; outflow tract septum morphogenesis [GO:0003148]; positive regulation of angiogenesis [GO:0045766]; positive regulation of BMP signaling pathway [GO:0030513]; positive regulation of collagen biosynthetic process [GO:0032967]; positive regulation of epithelial to mesenchymal transition involved in endocardial cushion formation [GO:1905007]; positive regulation of pathway-restricted SMAD protein phosphorylation [GO:0010862]; positive regulation of protein kinase B signaling [GO:0051897]; positive regulation of protein phosphorylation [GO:0001934]; positive regulation of systemic arterial blood pressure [GO:0003084]; positive regulation of transcription by RNA polymerase II [GO:0045944]; positive regulation of vascular smooth muscle cell differentiation [GO:1905065]; regulation of cell adhesion [GO:0030155]; regulation of cell proliferation [GO:0042127]; regulation of phosphorylation [GO:0042325]; regulation of transcription, DNA-templated [GO:0006355]; regulation of transforming growth factor beta receptor signaling pathway [GO:0017015]; response to corticosteroid [GO:0031960]; response to drug [GO:0042493]; response to hypoxia [GO:0001666]; response to transforming growth factor beta [GO:0071559]; smooth muscle tissue development [GO:0048745]; transforming growth factor beta receptor signaling pathway [GO:0007179]; vascular smooth muscle cell development [GO:0097084]; vasculogenesis [GO:0001570]; venous blood vessel morphogenesis [GO:0048845]; ventricular trabecula myocardium morphogenesis [GO:0003222]; wound healing [GO:0042060]

snps:
rs35400405 rs878853657 rs754136153 rs1060501415 rs763508329 rs1800956 rs121918401 rs763475207 rs116330805 rs863223538 rs142896669 rs1060501421 rs375965489 rs148002300 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=Long; IsoId=P17813-1; Sequence=Displayed; Name=Short; IsoId=P17813-2; Sequence=VSP_004233; 

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:10545596, ECO:0000269|PubMed:1326540, ECO:0000269|PubMed:1692830, ECO:0000269|PubMed:17540773, ECO:0000269|PubMed:8370410}; Single-pass type I membrane protein {ECO:0000305|PubMed:1692830, ECO:0000305|PubMed:8370410}.


uniprotID: P18146
geneSymbol: EGR1
reactome: R-HSA-8943724;R-HSA-909733;
pdb: 4R2A;4R2C;4R2D;4X9J;5N14;
length: 543
go: ENSG00000120738;
snps: rs13181973 rs28365166 rs28365164 rs28365165
name:
Early growth response protein 1 (EGR-1) (AT225) (Nerve growth factor-induced protein A) (NGFI-A) (Transcription factor ETR103) (Transcription factor Zif268) (Zinc finger protein 225) (Zinc finger protein Krox-24)

sequence:

opentargets:
cytoplasm [GO:0005737]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; DNA binding [GO:0003677]; DNA-binding transcription factor activity [GO:0003700]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; double-stranded methylated DNA binding [GO:0010385]; hemi-methylated DNA-binding [GO:0044729]; histone acetyltransferase binding [GO:0035035]; promoter-specific chromatin binding [GO:1990841]; proximal promoter DNA-binding transcription activator activity, RNA polymerase II-specific [GO:0001077]; RNA polymerase II regulatory region sequence-specific DNA binding [GO:0000977]; sequence-specific DNA binding [GO:0043565]; transcription regulatory region sequence-specific DNA binding [GO:0000976]; zinc ion binding [GO:0008270]; BMP signaling pathway [GO:0030509]; cellular response to gamma radiation [GO:0071480]; cellular response to heparin [GO:0071504]; cellular response to interleukin-8 [GO:0098759]; cellular response to mycophenolic acid [GO:0071506]; estrous cycle [GO:0044849]; glomerular mesangial cell proliferation [GO:0072110]; interleukin-1-mediated signaling pathway [GO:0070498]; negative regulation of canonical Wnt signaling pathway [GO:0090090]; negative regulation of transcription by RNA polymerase II [GO:0000122]; positive regulation of chemokine biosynthetic process [GO:0045080]; positive regulation of gene expression [GO:0010628]; positive regulation of glomerular metanephric mesangial cell proliferation [GO:0072303]; positive regulation of hormone biosynthetic process [GO:0046886]; positive regulation of interleukin-1 beta biosynthetic process [GO:0050725]; positive regulation of neuron death [GO:1901216]; positive regulation of tau-protein kinase activity [GO:1902949]; positive regulation of transcription by RNA polymerase II [GO:0045944]; positive regulation of transcription, DNA-templated [GO:0045893]; regulation of apoptotic process [GO:0042981]; regulation of progesterone biosynthetic process [GO:2000182]; regulation of protein sumoylation [GO:0033233]; regulation of transcription by RNA polymerase II [GO:0006357]; regulation of transcription from RNA polymerase II promoter in response to hypoxia [GO:0061418]; response to glucose [GO:0009749]; response to hypoxia [GO:0001666]; response to insulin [GO:0032868]; response to ischemia [GO:0002931]; skeletal muscle cell differentiation [GO:0035914]; T cell differentiation [GO:0030217]; transcription by RNA polymerase II [GO:0006366]; type I interferon signaling pathway [GO:0060337]

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:20363028}. Cytoplasm {ECO:0000269|PubMed:20363028}.


uniprotID: Q96D98
geneSymbol: EID2B
length: 161
go: ENSG00000176401;
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:15970276}.
name:
EP300-interacting inhibitor of differentiation 2B (EID-2B) (EID-2-like inhibitor of differentiation 3) (EID-3)

sequence:
MAEPTGLLEMSELPGDSSVPQVGTASGVSDVLRGAVGGGVRVQEAREGPVAEAARSMARMPGPVPGPIPSSVPGLASAPDPHQQLAFLEINRQLLFREYLDGSSMIPVRLLRDFEERRRLFVEGCKAREAAFDADPPQMDFAAVAFTVALTASEALSPLAD

opentargets:
nucleus [GO:0005634]; identical protein binding [GO:0042802]; cell differentiation [GO:0030154]; muscle organ development [GO:0007517]; negative regulation of myoblast differentiation [GO:0045662]; negative regulation of transcription, DNA-templated [GO:0045892]


uniprotID: Q8N9N8
geneSymbol: EIF1AD
pdb: 2DGY;
length: 165
go: ENSG00000175376;
opentargets: nucleus [GO:0005634]; translation initiation factor activity [GO:0003743]
snps: rs17849919 rs2276017
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:20644585, ECO:0000269|PubMed:22095125}.
name:
Probable RNA-binding protein EIF1AD (Eukaryotic translation initiation factor 1A domain-containing protein) (Haponin)

sequence:
MSQATKRKHVVKEVLGEHIVPSDQQQIVRVLRTPGNNLHEVETAQGQRFLVSMPSKYRKNIWIKRGDFLIVDPIEEGEKVKAEISFVLCKDHVRSLQKEGFWPEAFSEVAEKHNNRNRQTQPELPAEPQLSGEESSSEDDSDLFVNTNRRQYHESEEESEEEEAA


uniprotID: P41567
geneSymbol: EIF1
pdb: 2IF1;4KZX;4KZY;
length: 113
go: ENSG00000173812;
snps: rs3390 rs3387
name:
Eukaryotic translation initiation factor 1 (eIF1) (A121) (Protein translation factor SUI1 homolog) (Sui1iso1)

sequence:
MSAIQNLHSFDPFADASKGDDLLPAGTEDYIHIRIQQRNGRKTLTTVQGIADDYDKKKLVKAFKKKFACNGTVIEHPEYGEVIQLQGDQRKNICQFLVEIGLAKDDQLKVHGF

opentargets:
cytoplasm [GO:0005737]; eukaryotic 43S preinitiation complex [GO:0016282]; nucleus [GO:0005634]; ribosomal small subunit binding [GO:0043024]; RNA binding [GO:0003723]; translation factor activity, RNA binding [GO:0008135]; translation initiation factor activity [GO:0003743]; dosage compensation by inactivation of X chromosome [GO:0009048]; regulation of translational initiation [GO:0006446]


uniprotID: O15372
geneSymbol: EIF3H
reactome: R-HSA-156827;R-HSA-72649;R-HSA-72689;R-HSA-72695;R-HSA-72702;R-HSA-72706;
pdb: 3J8B;3J8C;
length: 352
go: ENSG00000147677;
location: SUBCELLULAR LOCATION: Cytoplasm {ECO:0000255|HAMAP-Rule:MF_03007}.
name:
Eukaryotic translation initiation factor 3 subunit H (eIF3h) (Eukaryotic translation initiation factor 3 subunit 3) (eIF-3-gamma) (eIF3 p40 subunit)

sequence:

opentargets:
cytosol [GO:0005829]; eukaryotic 43S preinitiation complex [GO:0016282]; eukaryotic 48S preinitiation complex [GO:0033290]; eukaryotic translation initiation factor 3 complex [GO:0005852]; eukaryotic translation initiation factor 3 complex, eIF3m [GO:0071541]; extracellular exosome [GO:0070062]; membrane [GO:0016020]; polysomal ribosome [GO:0042788]; metallopeptidase activity [GO:0008237]; RNA binding [GO:0003723]; translation initiation factor activity [GO:0003743]; formation of cytoplasmic translation initiation complex [GO:0001732]; regulation of translational initiation [GO:0006446]; translational initiation [GO:0006413]


uniprotID: P02671
geneSymbol: FGA
name: Fibrinogen alpha chain [Cleaved into: Fibrinopeptide A; Fibrinogen alpha chain]
length: 866
go: ENSG00000171560;
drug: DB04919;DB00009;DB05099;DB00029;DB05675;DB00015;DB00364;DB00031;
location: SUBCELLULAR LOCATION: Secreted {ECO:0000269|PubMed:19296670, ECO:0000269|PubMed:9628725}.
reactome:
R-HSA-114608;R-HSA-140875;R-HSA-216083;R-HSA-354192;R-HSA-354194;R-HSA-372708;R-HSA-381426;R-HSA-5674135;R-HSA-5686938;R-HSA-6802946;R-HSA-6802948;R-HSA-6802949;R-HSA-6802952;R-HSA-6802955;R-HSA-8957275;R-HSA-977225;

pdb:
1BBR;1DM4;1FPH;1FZA;1FZB;1FZC;1FZD;1FZE;1FZF;1FZG;1LT9;1LTJ;1N86;1N8E;1RE3;1RE4;1RF0;1RF1;1YCP;2A45;2FFD;2H43;2HLO;2HOD;2HPC;2OYH;2OYI;2Q9I;2XNX;2XNY;2Z4E;3AT0;3BVH;3E1I;3GHG;3H32;3HUS;4F27;5CFA;

sequence:

opentargets:
blood microparticle [GO:0072562]; cell cortex [GO:0005938]; cell surface [GO:0009986]; collagen-containing extracellular matrix [GO:0062023]; endoplasmic reticulum lumen [GO:0005788]; external side of plasma membrane [GO:0009897]; extracellular exosome [GO:0070062]; extracellular region [GO:0005576]; extracellular space [GO:0005615]; extracellular vesicle [GO:1903561]; fibrinogen complex [GO:0005577]; plasma membrane [GO:0005886]; platelet alpha granule [GO:0031091]; platelet alpha granule lumen [GO:0031093]; synapse [GO:0045202]; extracellular matrix structural constituent [GO:0005201]; metal ion binding [GO:0046872]; signaling receptor binding [GO:0005102]; structural molecule activity [GO:0005198]; adaptive immune response [GO:0002250]; blood coagulation [GO:0007596]; blood coagulation, common pathway [GO:0072377]; blood coagulation, fibrin clot formation [GO:0072378]; cell-matrix adhesion [GO:0007160]; cellular protein metabolic process [GO:0044267]; cellular protein-containing complex assembly [GO:0034622]; extracellular matrix organization [GO:0030198]; fibrinolysis [GO:0042730]; induction of bacterial agglutination [GO:0043152]; innate immune response [GO:0045087]; negative regulation of blood coagulation, common pathway [GO:2000261]; negative regulation of endothelial cell apoptotic process [GO:2000352]; negative regulation of extrinsic apoptotic signaling pathway via death domain receptors [GO:1902042]; plasminogen activation [GO:0031639]; platelet aggregation [GO:0070527]; platelet degranulation [GO:0002576]; positive regulation of ERK1 and ERK2 cascade [GO:0070374]; positive regulation of exocytosis [GO:0045921]; positive regulation of heterotypic cell-cell adhesion [GO:0034116]; positive regulation of peptide hormone secretion [GO:0090277]; positive regulation of protein secretion [GO:0050714]; positive regulation of substrate adhesion-dependent cell spreading [GO:1900026]; positive regulation of vasoconstriction [GO:0045907]; post-translational protein modification [GO:0043687]; protein polymerization [GO:0051258]; protein-containing complex assembly [GO:0065003]; response to calcium ion [GO:0051592]; toll-like receptor signaling pathway [GO:0002224]

snps:
rs2070025 rs121909604 rs121909605 rs121909606 rs121909607 rs121909609 rs121909608 rs121909614 rs6050 rs6052 rs121909610 rs2070031 rs121909612 rs121909613 rs78506343 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; Synonyms=Alpha-E; IsoId=P02671-1; Sequence=Displayed; Name=2; Synonyms=Alpha; IsoId=P02671-2; Sequence=VSP_001531, VSP_001532; 


uniprotID: Q9HBU6
geneSymbol: ETNK1
reactome: R-HSA-1483213;
name: Ethanolamine kinase 1 (EKI 1) (EC 2.7.1.82)
length: 452
go: ENSG00000139163;
location: SUBCELLULAR LOCATION: Cytoplasm.
sequence:

opentargets:
cytosol [GO:0005829]; membrane [GO:0016020]; nucleoplasm [GO:0005654]; plasma membrane [GO:0005886]; ATP binding [GO:0005524]; ethanolamine kinase activity [GO:0004305]; phosphatidylethanolamine biosynthetic process [GO:0006646]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9HBU6-1; Sequence=Displayed; Name=2; IsoId=Q9HBU6-2; Sequence=VSP_047191; Note=No experimental confirmation available.; 


uniprotID: P78545
geneSymbol: ELF3
reactome: R-HSA-1912408;
pdb: 2E8P;
length: 371
go: ENSG00000163435;
snps: rs1135542
name:
ETS-related transcription factor Elf-3 (E74-like factor 3) (Epithelial-restricted with serine box) (Epithelium-restricted Ets protein ESX) (Epithelium-specific Ets transcription factor 1) (ESE-1)

sequence:

opentargets:
cytosol [GO:0005829]; Golgi apparatus [GO:0005794]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; DNA-binding transcription factor activity [GO:0003700]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; proximal promoter DNA-binding transcription activator activity, RNA polymerase II-specific [GO:0001077]; RNA polymerase II proximal promoter sequence-specific DNA binding [GO:0000978]; transcription coactivator activity [GO:0003713]; blastocyst development [GO:0001824]; cell differentiation [GO:0030154]; epidermis development [GO:0008544]; epithelial cell differentiation [GO:0030855]; extracellular matrix organization [GO:0030198]; inflammatory response [GO:0006954]; mammary gland involution [GO:0060056]; multicellular organism development [GO:0007275]; negative regulation of transcription, DNA-templated [GO:0045892]; positive regulation of Notch signaling pathway [GO:0045747]; positive regulation of transcription, DNA-templated [GO:0045893]; regulation of transcription by RNA polymerase II [GO:0006357]; transcription by RNA polymerase II [GO:0006366]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Comment=Additional isoforms may exist. {ECO:0000269|PubMed:9234700}; Name=1 {ECO:0000269|PubMed:9234700}; Synonyms=ESE-1b {ECO:0000269|PubMed:9234700}; IsoId=P78545-1; Sequence=Displayed; Name=2 {ECO:0000269|PubMed:9234700}; Synonyms=ESE-1a {ECO:0000269|PubMed:9234700}; IsoId=P78545-2; Sequence=VSP_052433; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:10391676, ECO:0000269|PubMed:15169914, ECO:0000269|PubMed:17060315}. Nucleus {ECO:0000255|PROSITE-ProRule:PRU00237, ECO:0000269|PubMed:10391676, ECO:0000269|PubMed:15169914, ECO:0000269|PubMed:17060315}. Note=Localizes to the cytoplasm where it has been shown to transform MCF-12A mammary epithelial cells via a novel cytoplasmic mechanism. Also transiently expressed and localized to the nucleus where it induces apoptosis in non-transformed breast epithelial cells MCF-10A and MCF-12A via a transcription-dependent mechanism. {ECO:0000269|PubMed:10391676, ECO:0000269|PubMed:15169914, ECO:0000269|PubMed:17060315}.


uniprotID: P33316
geneSymbol: DUT
reactome: R-HSA-499943;
pdb: 1Q5H;1Q5U;2HQU;3ARA;3ARN;3EHW;4MZ5;4MZ6;5H4J;
length: 252
go: ENSG00000128951;
drug: DB03413;
snps: rs28381104
name:
Deoxyuridine 5'-triphosphate nucleotidohydrolase, mitochondrial (dUTPase) (EC 3.6.1.23) (dUTP pyrophosphatase)

sequence:

opentargets:
cytosol [GO:0005829]; extracellular exosome [GO:0070062]; mitochondrion [GO:0005739]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; dUTP diphosphatase activity [GO:0004170]; magnesium ion binding [GO:0000287]; peroxisome proliferator activated receptor binding [GO:0042975]; pyrimidine deoxyribonucleotide binding [GO:0032556]; receptor inhibitor activity [GO:0030547]; RNA binding [GO:0003723]; DNA replication [GO:0006260]; dUMP biosynthetic process [GO:0006226]; dUTP catabolic process [GO:0046081]; liver development [GO:0001889]; nucleobase-containing compound metabolic process [GO:0006139]; nucleobase-containing small molecule interconversion [GO:0015949]; protein homotrimerization [GO:0070207]; regulation of protein heterodimerization activity [GO:0043497]; response to organic cyclic compound [GO:0014070]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=3; Synonyms=DUT-M; IsoId=P33316-3; Sequence=Displayed; Name=2; Synonyms=DUT-N; IsoId=P33316-2; Sequence=VSP_001324; Note=Major isoform. {ECO:0000244|PubMed:20068231, ECO:0000244|PubMed:21406692, ECO:0000269|PubMed:8631816, ECO:0000269|PubMed:8631817}; 

location:
SUBCELLULAR LOCATION: Isoform 2: Nucleus {ECO:0000269|PubMed:8631816, ECO:0000269|PubMed:9070952}.; SUBCELLULAR LOCATION: Isoform 3: Mitochondrion {ECO:0000269|PubMed:8631816, ECO:0000269|PubMed:9070952}.


uniprotID: Q02413
geneSymbol: DSG1
reactome: R-HSA-351906;R-HSA-6798695;R-HSA-6805567;R-HSA-6809371;
length: 1049
go: ENSG00000134760;
name:
Desmoglein-1 (Cadherin family member 4) (Desmosomal glycoprotein 1) (DG1) (DGI) (Pemphigus foliaceus antigen)

sequence:

opentargets:
apical plasma membrane [GO:0016324]; cornified envelope [GO:0001533]; cytoplasmic side of plasma membrane [GO:0009898]; cytosol [GO:0005829]; desmosome [GO:0030057]; ficolin-1-rich granule membrane [GO:0101003]; integral component of membrane [GO:0016021]; lateral plasma membrane [GO:0016328]; plasma membrane [GO:0005886]; calcium ion binding [GO:0005509]; gamma-catenin binding [GO:0045295]; toxic substance binding [GO:0015643]; calcium-dependent cell-cell adhesion via plasma membrane cell adhesion molecules [GO:0016339]; cell-cell adhesion [GO:0098609]; cell-cell junction assembly [GO:0007043]; cornification [GO:0070268]; homophilic cell adhesion via plasma membrane adhesion molecules [GO:0007156]; keratinization [GO:0031424]; maternal process involved in female pregnancy [GO:0060135]; neutrophil degranulation [GO:0043312]; protein stabilization [GO:0050821]; response to progesterone [GO:0032570]

snps:
rs1426310 rs16961655 rs8091003 rs8091117 rs16961689 rs34302455 rs35360042 rs16961692 rs3752094 rs3752095 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q02413-1; Sequence=Displayed; Name=2; IsoId=Q02413-2; Sequence=VSP_055930; Note=No experimental confirmation available.; 

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


uniprotID: O00148
geneSymbol: DDX39A
reactome: R-HSA-109688;R-HSA-159236;R-HSA-72187;
name: ATP-dependent RNA helicase DDX39A (EC 3.6.4.13) (DEAD box protein 39) (Nuclear RNA helicase URH49)
length: 427
go: ENSG00000123136;
snps: rs36127505
sequence:

opentargets:
cytoplasm [GO:0005737]; membrane [GO:0016020]; nuclear speck [GO:0016607]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; ATP binding [GO:0005524]; ATPase activity [GO:0016887]; helicase activity [GO:0004386]; identical protein binding [GO:0042802]; RNA binding [GO:0003723]; mRNA 3'-end processing [GO:0031124]; mRNA export from nucleus [GO:0006406]; mRNA splicing, via spliceosome [GO:0000398]; RNA export from nucleus [GO:0006405]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; Synonyms=L; IsoId=O00148-1; Sequence=Displayed; Name=2; Synonyms=S; IsoId=O00148-2; Sequence=VSP_046559, VSP_046560; Note=Probably devoid of RNA helicase activity.; Name=3; Synonyms=SS; IsoId=O00148-3; Sequence=VSP_057426, VSP_057427; Note=Probably devoid of RNA helicase activity.; 

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:21859714}. Cytoplasm {ECO:0000269|PubMed:21859714}. Note=Can translocate to the cytoplasm in the presence of MX1.


uniprotID: Q96DC8
geneSymbol: ECHDC3
pdb: 2VX2;
name: Enoyl-CoA hydratase domain-containing protein 3, mitochondrial
length: 303
go: ENSG00000134463;
opentargets: mitochondrion [GO:0005739]; catalytic activity [GO:0003824]
snps: rs4750090 rs7910140 rs35986488
location: SUBCELLULAR LOCATION: Mitochondrion {ECO:0000305}.
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q96DC8-1; Sequence=Displayed; Name=2; IsoId=Q96DC8-2; Sequence=VSP_033491; Note=No experimental confirmation available.; 


uniprotID: P30084
geneSymbol: ECHS1
reactome: R-HSA-77310;R-HSA-77346;R-HSA-77348;R-HSA-77350;R-HSA-77352;
pdb: 2HW5;
length: 290
go: ENSG00000127884;
drug: DB03059;DB02563;DB02910;
location: SUBCELLULAR LOCATION: Mitochondrion matrix.
name:
Enoyl-CoA hydratase, mitochondrial (EC 4.2.1.17) (Enoyl-CoA hydratase 1) (Short-chain enoyl-CoA hydratase) (SCEH)

sequence:

opentargets:
mitochondrial matrix [GO:0005759]; mitochondrion [GO:0005739]; enoyl-CoA hydratase activity [GO:0004300]; fatty acid beta-oxidation [GO:0006635]

snps:
rs587776498 rs10466126 rs375266808 rs201865375 rs371063211 rs1049951 rs1085307550 rs770931871 rs864309656 rs786204001 rs375032130 rs761989177 rs769429279 rs565090080 


uniprotID: P00533
geneSymbol: EGFR
length: 1210
go: ENSG00000146648;
reactome:
R-HSA-1227986;R-HSA-1236382;R-HSA-1236394;R-HSA-1250196;R-HSA-1251932;R-HSA-1257604;R-HSA-177929;R-HSA-179812;R-HSA-180292;R-HSA-180336;R-HSA-182971;R-HSA-1963640;R-HSA-1963642;R-HSA-212718;R-HSA-2179392;R-HSA-2219530;R-HSA-445144;R-HSA-5637810;R-HSA-5638303;R-HSA-5673001;R-HSA-6785631;R-HSA-6811558;R-HSA-8847993;R-HSA-8856825;R-HSA-8856828;R-HSA-8857538;R-HSA-8863795;R-HSA-8866910;R-HSA-9013507;

pdb:
1DNQ;1DNR;1IVO;1M14;1M17;1MOX;1NQL;1XKK;1YY9;1Z9I;2EB2;2EB3;2EXP;2EXQ;2GS2;2GS6;2GS7;2ITN;2ITO;2ITP;2ITQ;2ITT;2ITU;2ITV;2ITW;2ITX;2ITY;2ITZ;2J5E;2J5F;2J6M;2JIT;2JIU;2JIV;2KS1;2M0B;2M20;2N5S;2RF9;2RFD;2RFE;2RGP;3B2U;3B2V;3BEL;3BUO;3C09;3G5V;3G5Y;3GOP;3GT8;3IKA;3LZB;3NJP;3OB2;3OP0;3P0Y;3PFV;3POZ;3QWQ;3UG1;3UG2;3VJN;3VJO;3VRP;3VRR;3W2O;3W2P;3W2Q;3W2R;3W2S;3W32;3W33;4G5J;4G5P;4HJO;4I1Z;4I20;4I21;4I22;4I23;4I24;4JQ7;4JQ8;4JR3;4JRV;4KRL;4KRM;4KRO;4KRP;4LI5;4LL0;4LQM;4LRM;4R3P;4R3R;4R5S;4RIW;4RIX;4RIY;4RJ4;4RJ5;4RJ6;4RJ7;4RJ8;4TKS;4UIP;4UV7;4WD5;4WKQ;4WRG;4ZAU;4ZJV;4ZSE;5C8K;5C8M;5C8N;5CAL;5CAN;5CAO;5CAP;5CAQ;5CAS;5CAU;5CAV;5CNN;5CNO;5CZH;5CZI;5D41;5EDP;5EDQ;5EDR;5EM5;5EM6;5EM7;5EM8;5FED;5FEE;5FEQ;5GMP;5GNK;5GTY;5GTZ;5HCX;5HCY;5HCZ;5HG5;5HG7;5HG8;5HG9;5HIB;5HIC;5J9Y;5J9Z;5JEB;5LV6;5SX4;5SX5;5U8L;5UG8;5UG9;5UGA;5UGB;5UGC;5UWD;5WB7;5WB8;5X26;5X27;5X28;5X2A;5X2C;5X2F;5X2K;5XDK;5XDL;5XGM;5XGN;5XWD;5Y25;5Y9T;5YU9;5ZWJ;6ARU;6B3S;6D8E;

name:
Epidermal growth factor receptor (EC 2.7.10.1) (Proto-oncogene c-ErbB-1) (Receptor tyrosine-protein kinase erbB-1)

sequence:

opentargets:
apical plasma membrane [GO:0016324]; basal plasma membrane [GO:0009925]; basolateral plasma membrane [GO:0016323]; cell surface [GO:0009986]; clathrin-coated vesicle membrane [GO:0030665]; cytoplasm [GO:0005737]; early endosome membrane [GO:0031901]; endocytic vesicle [GO:0030139]; endoplasmic reticulum membrane [GO:0005789]; endosome [GO:0005768]; endosome membrane [GO:0010008]; extracellular space [GO:0005615]; focal adhesion [GO:0005925]; Golgi membrane [GO:0000139]; integral component of plasma membrane [GO:0005887]; membrane [GO:0016020]; membrane raft [GO:0045121]; multivesicular body, internal vesicle lumen [GO:0097489]; nuclear membrane [GO:0031965]; nucleus [GO:0005634]; perinuclear region of cytoplasm [GO:0048471]; plasma membrane [GO:0005886]; protein-containing complex [GO:0032991]; receptor complex [GO:0043235]; Shc-EGFR complex [GO:0070435]; synapse [GO:0045202]; actin filament binding [GO:0051015]; ATP binding [GO:0005524]; cadherin binding [GO:0045296]; calmodulin binding [GO:0005516]; chromatin binding [GO:0003682]; double-stranded DNA binding [GO:0003690]; enzyme binding [GO:0019899]; epidermal growth factor binding [GO:0048408]; epidermal growth factor-activated receptor activity [GO:0005006]; identical protein binding [GO:0042802]; integrin binding [GO:0005178]; MAP kinase kinase kinase activity [GO:0004709]; phosphatidylinositol-4,5-bisphosphate 3-kinase activity [GO:0046934]; protein heterodimerization activity [GO:0046982]; protein kinase binding [GO:0019901]; protein phosphatase binding [GO:0019903]; protein tyrosine kinase activity [GO:0004713]; Ras guanyl-nucleotide exchange factor activity [GO:0005088]; transmembrane receptor protein tyrosine kinase activity [GO:0004714]; transmembrane signaling receptor activity [GO:0004888]; ubiquitin protein ligase binding [GO:0031625]; virus receptor activity [GO:0001618]; activation of phospholipase A2 activity by calcium-mediated signaling [GO:0043006]; activation of phospholipase C activity [GO:0007202]; astrocyte activation [GO:0048143]; cell differentiation [GO:0030154]; cell proliferation [GO:0008283]; cell surface receptor signaling pathway [GO:0007166]; cell-cell adhesion [GO:0098609]; cellular response to amino acid stimulus [GO:0071230]; cellular response to cadmium ion [GO:0071276]; cellular response to dexamethasone stimulus [GO:0071549]; cellular response to epidermal growth factor stimulus [GO:0071364]; cellular response to estradiol stimulus [GO:0071392]; cellular response to mechanical stimulus [GO:0071260]; cellular response to reactive oxygen species [GO:0034614]; cerebral cortex cell migration [GO:0021795]; circadian rhythm [GO:0007623]; digestive tract morphogenesis [GO:0048546]; diterpenoid metabolic process [GO:0016101]; embryonic placenta development [GO:0001892]; epidermal growth factor receptor signaling pathway [GO:0007173]; ERBB2 signaling pathway [GO:0038128]; eyelid development in camera-type eye [GO:0061029]; hair follicle development [GO:0001942]; hydrogen peroxide metabolic process [GO:0042743]; learning or memory [GO:0007611]; liver regeneration [GO:0097421]; lung development [GO:0030324]; magnesium ion homeostasis [GO:0010960]; MAPK cascade [GO:0000165]; membrane organization [GO:0061024]; midgut development [GO:0007494]; morphogenesis of an epithelial fold [GO:0060571]; negative regulation of apoptotic process [GO:0043066]; negative regulation of cardiocyte differentiation [GO:1905208]; negative regulation of epidermal growth factor receptor signaling pathway [GO:0042059]; negative regulation of ERBB signaling pathway [GO:1901185]; negative regulation of mitotic cell cycle [GO:0045930]; negative regulation of Notch signaling pathway [GO:0045746]; negative regulation of protein catabolic process [GO:0042177]; negative regulation of signal transduction [GO:0009968]; neuron projection morphogenesis [GO:0048812]; ossification [GO:0001503]; ovulation cycle [GO:0042698]; peptidyl-tyrosine autophosphorylation [GO:0038083]; peptidyl-tyrosine phosphorylation [GO:0018108]; positive regulation of blood vessel diameter [GO:0097755]; positive regulation of bone resorption [GO:0045780]; positive regulation of canonical Wnt signaling pathway [GO:0090263]; positive regulation of cell growth [GO:0030307]; positive regulation of cell migration [GO:0030335]; positive regulation of cell proliferation [GO:0008284]; positive regulation of DNA repair [GO:0045739]; positive regulation of DNA replication [GO:0045740]; positive regulation of epithelial cell proliferation [GO:0050679]; positive regulation of ERK1 and ERK2 cascade [GO:0070374]; positive regulation of fibroblast proliferation [GO:0048146]; positive regulation of inflammatory response [GO:0050729]; positive regulation of MAP kinase activity [GO:0043406]; positive regulation of NIK/NF-kappaB signaling [GO:1901224]; positive regulation of nitric oxide mediated signal transduction [GO:0010750]; positive regulation of peptidyl-serine phosphorylation [GO:0033138]; positive regulation of phosphorylation [GO:0042327]; positive regulation of production of miRNAs involved in gene silencing by miRNA [GO:1903800]; positive regulation of prolactin secretion [GO:1902722]; positive regulation of protein kinase B signaling [GO:0051897]; positive regulation of protein kinase C activity [GO:1900020]; positive regulation of protein localization to plasma membrane [GO:1903078]; positive regulation of protein phosphorylation [GO:0001934]; positive regulation of smooth muscle cell proliferation [GO:0048661]; positive regulation of superoxide anion generation [GO:0032930]; positive regulation of synaptic transmission, glutamatergic [GO:0051968]; positive regulation of transcription by RNA polymerase II [GO:0045944]; positive regulation of transcription, DNA-templated [GO:0045893]; positive regulation of vasoconstriction [GO:0045907]; protein autophosphorylation [GO:0046777]; protein insertion into membrane [GO:0051205]; regulation of cell motility [GO:2000145]; regulation of ERK1 and ERK2 cascade [GO:0070372]; regulation of JNK cascade [GO:0046328]; regulation of nitric-oxide synthase activity [GO:0050999]; regulation of peptidyl-tyrosine phosphorylation [GO:0050730]; regulation of phosphatidylinositol 3-kinase signaling [GO:0014066]; regulation of transcription by RNA polymerase II [GO:0006357]; response to calcium ion [GO:0051592]; response to cobalamin [GO:0033590]; response to hydroxyisoflavone [GO:0033594]; response to osmotic stress [GO:0006970]; response to UV-A [GO:0070141]; salivary gland morphogenesis [GO:0007435]; signal transduction [GO:0007165]; tongue development [GO:0043586]; translation [GO:0006412]; wound healing [GO:0042060]

drug:
DB08916;DB00002;DB05424;DB00530;DB03496;DB00317;DB05324;DB11737;DB04988;DB05774;DB05900;DB01259;DB00281;DB05101;DB07662;DB09559;DB13164;DB09330;DB01269;DB05374;DB07602;DB00072;DB05294;

snps:
rs17289589 rs17336639 rs606231253 rs2227983 rs17337079 rs397517085 rs397517085 rs727504256 rs121913428 rs28929495 rs121913428 rs28929495 rs1051753269 rs121913420 rs121913465 rs147149347 rs121434569 rs397517126 rs397517127 rs397517128 rs864621996 rs121913443 rs121434568 rs121913444 rs17337451 rs17290699 rs34352568 rs35918369 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; Synonyms=p170; IsoId=P00533-1; Sequence=Displayed; Name=2; Synonyms=p60, Truncated, TEGFR; IsoId=P00533-2; Sequence=VSP_002887, VSP_002888; Name=3; Synonyms=p110; IsoId=P00533-3; Sequence=VSP_002889, VSP_002890; Name=4; IsoId=P00533-4; Sequence=VSP_002891, VSP_002892; 

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:17182860, ECO:0000269|PubMed:27153536, ECO:0000269|PubMed:2790960}; Single-pass type I membrane protein {ECO:0000269|PubMed:27153536}. Endoplasmic reticulum membrane {ECO:0000269|PubMed:27153536}; Single-pass type I membrane protein. Golgi apparatus membrane; Single-pass type I membrane protein. Nucleus membrane; Single-pass type I membrane protein. Endosome {ECO:0000269|PubMed:17182860, ECO:0000269|PubMed:27153536}. Endosome membrane. Nucleus {ECO:0000269|PubMed:17115032, ECO:0000269|PubMed:20551055, ECO:0000269|PubMed:20674546}. Note=In response to EGF, translocated from the cell membrane to the nucleus via Golgi and ER (PubMed:20674546). Endocytosed upon activation by ligand (PubMed:2790960, PubMed:17182860, PubMed:27153536). Colocalized with GPER1 in the nucleus of estrogen agonist-induced cancer-associated fibroblasts (CAF) (PubMed:20551055). {ECO:0000269|PubMed:17182860, ECO:0000269|PubMed:20674546, ECO:0000269|PubMed:27153536, ECO:0000269|PubMed:2790960}.; SUBCELLULAR LOCATION: Isoform 2: Secreted.


uniprotID: Q14512
geneSymbol: FGFBP1
reactome: R-HSA-190377;
length: 234
go: ENSG00000137440;
name:
Fibroblast growth factor-binding protein 1 (FGF-BP) (FGF-BP1) (FGF-binding protein 1) (FGFBP-1) (17 kDa heparin-binding growth factor-binding protein) (17 kDa HBGF-binding protein) (HBp17)

sequence:

opentargets:
cell surface [GO:0009986]; extracellular region [GO:0005576]; extracellular space [GO:0005615]; plasma membrane [GO:0005886]; fibroblast growth factor binding [GO:0017134]; heparin binding [GO:0008201]; cell-cell signaling [GO:0007267]; fibroblast growth factor receptor signaling pathway [GO:0008543]; negative regulation of cell proliferation [GO:0008285]; positive regulation of blood vessel endothelial cell proliferation involved in sprouting angiogenesis [GO:1903589]; positive regulation of cell migration involved in sprouting angiogenesis [GO:0090050]; positive regulation of fibroblast growth factor receptor signaling pathway [GO:0045743]; signal transduction [GO:0007165]

location:
SUBCELLULAR LOCATION: Secreted, extracellular space {ECO:0000269|PubMed:11148217, ECO:0000269|PubMed:15806171}. Cell membrane {ECO:0000269|PubMed:11148217, ECO:0000269|PubMed:15806171}; Peripheral membrane protein {ECO:0000269|PubMed:11148217, ECO:0000269|PubMed:15806171}. Note=Extracellular and plasma membrane-associated. Colocalizes with HSPG2 in the pericellular environment of squamous cell carcinomas. {ECO:0000269|PubMed:11148217}.


uniprotID: Q9H223
geneSymbol: EHD4
name: EH domain-containing protein 4 (Hepatocellular carcinoma-associated protein 10/11) (PAST homolog 4)
length: 541
go: ENSG00000103966;
snps: rs11549015
sequence:

opentargets:
early endosome membrane [GO:0031901]; endoplasmic reticulum [GO:0005783]; extracellular exosome [GO:0070062]; membrane [GO:0016020]; nucleus [GO:0005634]; perinuclear region of cytoplasm [GO:0048471]; plasma membrane [GO:0005886]; recycling endosome membrane [GO:0055038]; ATP binding [GO:0005524]; cadherin binding [GO:0045296]; calcium ion binding [GO:0005509]; GTP binding [GO:0005525]; nucleic acid binding [GO:0003676]; cellular response to growth factor stimulus [GO:0071363]; endocytic recycling [GO:0032456]; pinocytosis [GO:0006907]; positive regulation of peptidyl-tyrosine phosphorylation [GO:0050731]; protein homooligomerization [GO:0051260]; regulation of endocytosis [GO:0030100]

location:
SUBCELLULAR LOCATION: Early endosome membrane {ECO:0000269|PubMed:18331452}; Peripheral membrane protein {ECO:0000305}; Cytoplasmic side {ECO:0000305}. Recycling endosome membrane {ECO:0000269|PubMed:18331452}; Peripheral membrane protein {ECO:0000305}; Cytoplasmic side {ECO:0000305}. Cell membrane {ECO:0000250|UniProtKB:Q9EQP2}; Peripheral membrane protein {ECO:0000305}; Cytoplasmic side {ECO:0000305}.


uniprotID: Q9H9B1
geneSymbol: EHMT1
reactome: R-HSA-2559582;R-HSA-3214841;R-HSA-6804760;R-HSA-8953750;
pdb: 2IGQ;2RFI;3B7B;3B95;3FPD;3HNA;3MO0;3MO2;3MO5;3SW9;3SWC;4I51;5TTG;5TUZ;5V9J;5VSD;5VSF;6BY9;
length: 1298
go: ENSG00000181090;
snps: rs79514677 rs11137198
location: SUBCELLULAR LOCATION: Nucleus. Chromosome. Note=Associates with euchromatic regions.
name:
Histone-lysine N-methyltransferase EHMT1 (EC 2.1.1.-) (EC 2.1.1.43) (Euchromatic histone-lysine N-methyltransferase 1) (Eu-HMTase1) (G9a-like protein 1) (GLP) (GLP1) (Histone H3-K9 methyltransferase 5) (H3-K9-HMTase 5) (Lysine N-methyltransferase 1D)

sequence:

opentargets:
chromosome [GO:0005694]; nuclear body [GO:0016604]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; C2H2 zinc finger domain binding [GO:0070742]; histone methyltransferase activity (H3-K27 specific) [GO:0046976]; histone methyltransferase activity (H3-K9 specific) [GO:0046974]; histone-lysine N-methyltransferase activity [GO:0018024]; methyltransferase activity [GO:0008168]; p53 binding [GO:0002039]; protein-lysine N-methyltransferase activity [GO:0016279]; zinc ion binding [GO:0008270]; chromatin organization [GO:0006325]; DNA methylation [GO:0006306]; histone methylation [GO:0016571]; negative regulation of G0 to G1 transition [GO:0070317]; negative regulation of transcription by RNA polymerase II [GO:0000122]; negative regulation of transcription, DNA-templated [GO:0045892]; peptidyl-lysine dimethylation [GO:0018027]; peptidyl-lysine monomethylation [GO:0018026]; positive regulation of cold-induced thermogenesis [GO:0120162]; regulation of embryonic development [GO:0045995]; response to fungicide [GO:0060992]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Comment=Experimental confirmation may be lacking for some isoforms.; Name=1; IsoId=Q9H9B1-1; Sequence=Displayed; Name=2; IsoId=Q9H9B1-2; Sequence=VSP_002222, VSP_002223; 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=Q9H9B1-3; Sequence=VSP_002224, VSP_002225; Name=4; IsoId=Q9H9B1-4; Sequence=VSP_040717, VSP_040718; 


uniprotID: O14681
geneSymbol: EI24
name: Etoposide-induced protein 2.4 homolog (p53-induced gene 8 protein)
length: 340
go: ENSG00000149547;
snps: rs375652371
sequence:

opentargets:
cytosol [GO:0005829]; endoplasmic reticulum [GO:0005783]; endoplasmic reticulum membrane [GO:0005789]; Golgi apparatus [GO:0005794]; integral component of membrane [GO:0016021]; membrane [GO:0016020]; nuclear membrane [GO:0031965]; apoptotic process [GO:0006915]; macroautophagy [GO:0016236]; negative regulation of cell growth [GO:0030308]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=O14681-1; Sequence=Displayed; Name=2; IsoId=O14681-3; Sequence=VSP_055466; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Nucleus membrane {ECO:0000269|PubMed:21154811}; Multi-pass membrane protein {ECO:0000269|PubMed:21154811}. Cytoplasm {ECO:0000269|PubMed:21154811}. Endoplasmic reticulum membrane {ECO:0000250}; Multi-pass membrane protein {ECO:0000250}.


uniprotID: Q8NDI1
geneSymbol: EHBP1
pdb: 2D89;
name: EH domain-binding protein 1
length: 1231
go: ENSG00000115504;
snps: rs17432615
sequence:

opentargets:
cytosol [GO:0005829]; endosome [GO:0005768]; plasma membrane [GO:0005886]; endocytosis [GO:0006897]; protein transport [GO:0015031]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q8NDI1-1; Sequence=Displayed; Name=2; IsoId=Q8NDI1-2; Sequence=VSP_024834; Note=No experimental confirmation available.; Name=3; IsoId=Q8NDI1-3; Sequence=VSP_024834, VSP_024835; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:14676205}. Membrane {ECO:0000269|PubMed:14676205}. Endosome {ECO:0000305|PubMed:27552051}. Note=Mostly found in cytosol and plasma membrane.


uniprotID: Q8N140
geneSymbol: EID3
reactome: R-HSA-3108214;
length: 333
go: ENSG00000255150;
name:
EP300-interacting inhibitor of differentiation 3 (EID-3) (E1A-like inhibitor of differentiation 3) (EID-1-like inhibitor of differentiation 3) (Non-structural maintenance of chromosomes element 4 homolog B) (NS4EB) (Non-SMC element 4 homolog B)

sequence:

opentargets:
chromosome, telomeric region [GO:0000781]; cytoplasm [GO:0005737]; nucleolus [GO:0005730]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; Smc5-Smc6 complex [GO:0030915]; DNA recombination [GO:0006310]; DNA repair [GO:0006281]; positive regulation of response to DNA damage stimulus [GO:2001022]

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:15987788}. Cytoplasm {ECO:0000269|PubMed:15987788}. Chromosome, telomere {ECO:0000305|PubMed:15987788}. Note=May shuttle between nucleus and cytoplasm. {ECO:0000269|PubMed:15987788}.


uniprotID: Q9BY44
geneSymbol: EIF2A
length: 585
go: ENSG00000144895;
snps: rs1132979 rs17850813
name:
Eukaryotic translation initiation factor 2A (eIF-2A) (65 kDa eukaryotic translation initiation factor 2A) [Cleaved into: Eukaryotic translation initiation factor 2A, N-terminally processed]

sequence:

opentargets:
blood microparticle [GO:0072562]; cytoplasm [GO:0005737]; cytosolic small ribosomal subunit [GO:0022627]; eukaryotic translation initiation factor 2 complex [GO:0005850]; extracellular space [GO:0005615]; cadherin binding [GO:0045296]; ribosome binding [GO:0043022]; translation initiation factor activity [GO:0003743]; tRNA binding [GO:0000049]; positive regulation of signal transduction [GO:0009967]; protein phosphorylation [GO:0006468]; regulation of translation [GO:0006417]; response to amino acid starvation [GO:1990928]; ribosome assembly [GO:0042255]; SREBP signaling pathway [GO:0032933]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=Q9BY44-1; Sequence=Displayed; Name=2; IsoId=Q9BY44-2; Sequence=VSP_024975, VSP_024976; Note=No experimental confirmation available.; Name=3; IsoId=Q9BY44-3; Sequence=VSP_056047; Note=No experimental confirmation available.; Name=4; IsoId=Q9BY44-4; Sequence=VSP_056048; Note=No experimental confirmation available.; 


uniprotID: P60228
geneSymbol: EIF3E
reactome: R-HSA-156827;R-HSA-72649;R-HSA-72689;R-HSA-72695;R-HSA-72702;R-HSA-72706;
pdb: 3J8B;3J8C;6FEC;
length: 445
go: ENSG00000104408;
snps: rs17856554
location: SUBCELLULAR LOCATION: Cytoplasm. Nucleus, PML body.
name:
Eukaryotic translation initiation factor 3 subunit E (eIF3e) (Eukaryotic translation initiation factor 3 subunit 6) (Viral integration site protein INT-6 homolog) (eIF-3 p48)

sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; eukaryotic 43S preinitiation complex [GO:0016282]; eukaryotic 48S preinitiation complex [GO:0033290]; eukaryotic translation initiation factor 3 complex [GO:0005852]; eukaryotic translation initiation factor 3 complex, eIF3e [GO:0071540]; extracellular exosome [GO:0070062]; membrane [GO:0016020]; nuclear body [GO:0016604]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; PML body [GO:0016605]; cadherin binding [GO:0045296]; protein N-terminus binding [GO:0047485]; RNA binding [GO:0003723]; translation initiation factor activity [GO:0003743]; formation of cytoplasmic translation initiation complex [GO:0001732]; negative regulation of translational initiation [GO:0045947]; nuclear-transcribed mRNA catabolic process, nonsense-mediated decay [GO:0000184]; positive regulation of mRNA binding [GO:1902416]; positive regulation of translation [GO:0045727]; regulation of translational initiation [GO:0006446]; translational initiation [GO:0006413]


uniprotID: Q08830
geneSymbol: FGL1
length: 312
go: ENSG00000104760;
opentargets: fibrinogen complex [GO:0005577]
snps: rs484373 rs3739406 rs2653406 rs34019703 rs35311020 rs34239530 rs35431851 rs2653414
location: SUBCELLULAR LOCATION: Secreted.
name:
Fibrinogen-like protein 1 (HP-041) (Hepassocin) (Hepatocyte-derived fibrinogen-related protein 1) (HFREP-1) (Liver fibrinogen-related protein 1) (LFIRE-1)

sequence:


uniprotID: P09769
geneSymbol: FGR
reactome: R-HSA-2029481;R-HSA-432142;R-HSA-6798695;
length: 529
go: ENSG00000000938;
snps: rs34597831 rs35334091
name:
Tyrosine-protein kinase Fgr (EC 2.7.10.2) (Gardner-Rasheed feline sarcoma viral (v-fgr) oncogene homolog) (Proto-oncogene c-Fgr) (p55-Fgr) (p58-Fgr) (p58c-Fgr)

sequence:

opentargets:
actin cytoskeleton [GO:0015629]; aggresome [GO:0016235]; cytosol [GO:0005829]; extracellular exosome [GO:0070062]; extracellular region [GO:0005576]; extrinsic component of cytoplasmic side of plasma membrane [GO:0031234]; mitochondrial inner membrane [GO:0005743]; mitochondrial intermembrane space [GO:0005758]; plasma membrane [GO:0005886]; ruffle membrane [GO:0032587]; secretory granule lumen [GO:0034774]; ATP binding [GO:0005524]; Fc-gamma receptor I complex binding [GO:0034988]; immunoglobulin receptor binding [GO:0034987]; non-membrane spanning protein tyrosine kinase activity [GO:0004715]; phosphotyrosine residue binding [GO:0001784]; protein kinase binding [GO:0019901]; protein tyrosine kinase activity [GO:0004713]; signaling receptor binding [GO:0005102]; cell differentiation [GO:0030154]; defense response to Gram-positive bacterium [GO:0050830]; Fc-gamma receptor signaling pathway involved in phagocytosis [GO:0038096]; immune response-regulating cell surface receptor signaling pathway [GO:0002768]; innate immune response [GO:0045087]; integrin-mediated signaling pathway [GO:0007229]; neutrophil degranulation [GO:0043312]; peptidyl-tyrosine autophosphorylation [GO:0038083]; peptidyl-tyrosine phosphorylation [GO:0018108]; positive regulation of cell migration [GO:0030335]; positive regulation of cytokine secretion [GO:0050715]; positive regulation of mast cell degranulation [GO:0043306]; positive regulation of phosphatidylinositol 3-kinase activity [GO:0043552]; positive regulation of phosphatidylinositol 3-kinase signaling [GO:0014068]; protein autophosphorylation [GO:0046777]; protein phosphorylation [GO:0006468]; regulation of cell shape [GO:0008360]; regulation of innate immune response [GO:0045088]; regulation of phagocytosis [GO:0050764]; regulation of protein kinase activity [GO:0045859]; response to virus [GO:0009615]; transmembrane receptor protein tyrosine kinase signaling pathway [GO:0007169]

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000305}; Lipid-anchor {ECO:0000305}; Cytoplasmic side {ECO:0000305}. Cell membrane; Peripheral membrane protein; Cytoplasmic side. Cell projection, ruffle membrane. Cytoplasm, cytosol. Cytoplasm, cytoskeleton. Mitochondrion inner membrane {ECO:0000250}. Mitochondrion intermembrane space {ECO:0000250}. Note=Detected in mitochondrial intermembrane space and at inner membranes (By similarity). Colocalizes with actin fibers at membrane ruffles. Detected at plasma membrane lipid rafts. {ECO:0000250}.


uniprotID: Q5JVL4
geneSymbol: EFHC1
name: EF-hand domain-containing protein 1 (Myoclonin-1)
length: 640
go: ENSG00000096093;
sequence:

opentargets:
axoneme [GO:0005930]; centrosome [GO:0005813]; mitotic spindle [GO:0072686]; neuronal cell body [GO:0043025]; spindle pole [GO:0000922]; alpha-tubulin binding [GO:0043014]; calcium ion binding [GO:0005509]; protein C-terminus binding [GO:0008022]; cerebral cortex cell migration [GO:0021795]; mitotic cytokinesis [GO:0000281]; mitotic spindle organization [GO:0007052]; regulation of cell division [GO:0051302]

snps:
rs149055334 rs543160745 rs764096785 rs745600475 rs3804506 rs137852779 rs200191497 rs3804505 rs137852777 rs139197513 rs79761183 rs137852776 rs137852778 rs137852780 rs17851771 rs1570624 rs527295360 rs767833659 rs505760 rs371151471 rs377286138 rs1266787 rs779322943 rs527539103 rs772265107 rs17851770 rs142458862 rs574948354 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q5JVL4-1; Sequence=Displayed; Name=2; IsoId=Q5JVL4-2; Sequence=VSP_015894, VSP_015895; Note=May be due to intron retention.; Name=3; IsoId=Q5JVL4-3; Sequence=VSP_046107; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton, microtubule organizing center, centrosome {ECO:0000269|PubMed:22926142}. Cytoplasm, cytoskeleton, spindle {ECO:0000269|PubMed:19734894, ECO:0000269|PubMed:22926142}. Cytoplasm, cytoskeleton, spindle pole {ECO:0000269|PubMed:28370826}.


uniprotID: O00418
geneSymbol: EEF2K
reactome: R-HSA-166208;
pdb: 5J8H;5KS5;
length: 725
go: ENSG00000103319;
snps: rs9935059 rs17841292 rs147978363 rs4783453 rs56137739
name:
Eukaryotic elongation factor 2 kinase (eEF-2 kinase) (eEF-2K) (EC 2.7.11.20) (Calcium/calmodulin-dependent eukaryotic elongation factor 2 kinase)

sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; dendritic spine [GO:0043197]; postsynaptic density [GO:0014069]; ATP binding [GO:0005524]; calcium ion binding [GO:0005509]; calmodulin binding [GO:0005516]; elongation factor-2 kinase activity [GO:0004686]; protein kinase activity [GO:0004672]; translation factor activity, RNA binding [GO:0008135]; cellular response to anoxia [GO:0071454]; cellular response to brain-derived neurotrophic factor stimulus [GO:1990416]; cellular response to calcium ion [GO:0071277]; cellular response to cAMP [GO:0071320]; cellular response to insulin stimulus [GO:0032869]; negative regulation of apoptotic process [GO:0043066]; positive regulation of dendritic spine morphogenesis [GO:0061003]; positive regulation of endocytosis [GO:0045807]; positive regulation of synapse assembly [GO:0051965]; protein autophosphorylation [GO:0046777]; regulation of protein autophosphorylation [GO:0031952]; response to ischemia [GO:0002931]; response to prolactin [GO:1990637]; translational elongation [GO:0006414]


uniprotID: Q9NX77
geneSymbol: ERVK13-1
length: 482
name:
Endogenous retrovirus group K member 13-1 Env polyprotein (Envelope polyprotein) (HERV-K_16p13.3 provirus ancestral Env polyprotein) [Cleaved into: Surface protein (SU); Transmembrane protein (TM)]

sequence:

location:
SUBCELLULAR LOCATION: Virion {ECO:0000250}.; SUBCELLULAR LOCATION: Transmembrane protein: Cell membrane {ECO:0000305}; Single-pass membrane protein {ECO:0000305}.


uniprotID: O42043
geneSymbol: ERVK-18
length: 560
name:
Endogenous retrovirus group K member 18 Env polyprotein (Envelope polyprotein) (HERV-K(C1a) envelope protein) (HERV-K110 envelope protein) (HERV-K18 envelope protein) (HERV-K18 superantigen) (HERV-K_1q23.3 provirus ancestral Env polyprotein) (IDDMK1,2 22 envelope protein) (IDDMK1,2 22 superantigen) [Cleaved into: Surface protein (SU); Transmembrane protein (TM)]

sequence:

location:
SUBCELLULAR LOCATION: Transmembrane protein: Cell membrane {ECO:0000250}; Single-pass type I membrane protein {ECO:0000250}.; SUBCELLULAR LOCATION: Surface protein: Cell membrane {ECO:0000250}; Peripheral membrane protein {ECO:0000250}. Note=The surface protein is not anchored to the membrane, but localizes to the extracellular surface through its binding to TM. {ECO:0000250}.; SUBCELLULAR LOCATION: Endogenous retrovirus group K member 18 Env polyprotein: Virion {ECO:0000250}.


uniprotID: P61566
geneSymbol: ERVK-24
length: 588
name:
Endogenous retrovirus group K member 24 Env polyprotein (Envelope polyprotein) (HERV-K101 envelope protein) (HERV-K_22q11.21 provirus ancestral Env polyprotein) [Cleaved into: Surface protein (SU); Transmembrane protein (TM)]

sequence:

location:
SUBCELLULAR LOCATION: Transmembrane protein: Cell membrane {ECO:0000250}; Single-pass type I membrane protein {ECO:0000250}.; SUBCELLULAR LOCATION: Surface protein: Cell membrane {ECO:0000250}; Peripheral membrane protein {ECO:0000250}. Note=The surface protein is not anchored to the membrane, but localizes to the extracellular surface through its binding to TM. {ECO:0000250}.; SUBCELLULAR LOCATION: Endogenous retrovirus group K member 24 Env polyprotein: Virion {ECO:0000250}.


uniprotID: P61570
geneSymbol: ERVK-25
length: 661
name:
Endogenous retrovirus group K member 25 Env polyprotein (Envelope polyprotein) (HERV-K_11q22.1 provirus ancestral Env polyprotein) [Cleaved into: Surface protein (SU); Transmembrane protein (TM)]

sequence:

location:
SUBCELLULAR LOCATION: Virion {ECO:0000250}.; SUBCELLULAR LOCATION: Transmembrane protein: Cell membrane {ECO:0000305}; Single-pass membrane protein {ECO:0000305}.


uniprotID: Q9HDB8
geneSymbol: ERVK-5
length: 245
location: SUBCELLULAR LOCATION: Virion.
name:
Endogenous retrovirus group K member 5 Env polyprotein (Envelope polyprotein) (HERV-K(II) envelope protein) (HERV-K_3q12.3 provirus ancestral Env polyprotein) [Includes: Truncated surface protein (SU)]

sequence:


uniprotID: Q69384
geneSymbol: ERVK-6
length: 699
name:
Endogenous retrovirus group K member 6 Env polyprotein (EnvK2 protein) (Envelope polyprotein) (HERV-K(C7) envelope protein) (HERV-K(HML-2.HOM) envelope protein) (HERV-K108 envelope protein) (HERV-K_7p22.1 provirus ancestral Env polyprotein) [Cleaved into: Surface protein (SU); Transmembrane protein (TM)]

sequence:

location:
SUBCELLULAR LOCATION: Transmembrane protein: Cell membrane {ECO:0000250}; Single-pass type I membrane protein {ECO:0000250}.; SUBCELLULAR LOCATION: Surface protein: Cell membrane {ECO:0000250}; Peripheral membrane protein {ECO:0000250}. Note=The surface protein is not anchored to the membrane, but localizes to the extracellular surface through its binding to TM. {ECO:0000250}.; SUBCELLULAR LOCATION: Endogenous retrovirus group K member 6 Env polyprotein: Virion {ECO:0000250}.


uniprotID: P61567
geneSymbol: ERVK-7
length: 588
name:
Endogenous retrovirus group K member 7 Env polyprotein (Envelope polyprotein) (HERV-K(III) envelope protein) (HERV-K102 envelope protein) (HERV-K_1q22 provirus ancestral Env polyprotein) [Cleaved into: Surface protein (SU); Transmembrane protein (TM)]

sequence:


uniprotID: Q02790
geneSymbol: FKBP4
reactome: R-HSA-3371497;R-HSA-3371568;R-HSA-8939211;R-HSA-9018519;
pdb: 1N1A;1P5Q;1Q1C;1QZ2;4DRJ;4LAV;4LAW;4LAX;4LAY;4TW8;
length: 459
go: ENSG00000004478;
snps: rs1042228
name:
Peptidyl-prolyl cis-trans isomerase FKBP4 (PPIase FKBP4) (EC 5.2.1.8) (51 kDa FK506-binding protein) (FKBP51) (52 kDa FK506-binding protein) (52 kDa FKBP) (FKBP-52) (59 kDa immunophilin) (p59) (FK506-binding protein 4) (FKBP-4) (FKBP59) (HSP-binding immunophilin) (HBI) (Immunophilin FKBP52) (Rotamase) [Cleaved into: Peptidyl-prolyl cis-trans isomerase FKBP4, N-terminally processed]

sequence:

opentargets:
axonal growth cone [GO:0044295]; cytoplasm [GO:0005737]; cytosol [GO:0005829]; extracellular exosome [GO:0070062]; microtubule [GO:0005874]; mitochondrion [GO:0005739]; neuronal cell body [GO:0043025]; nucleoplasm [GO:0005654]; perinuclear region of cytoplasm [GO:0048471]; protein-containing complex [GO:0032991]; ATP binding [GO:0005524]; copper-dependent protein binding [GO:0032767]; FK506 binding [GO:0005528]; glucocorticoid receptor binding [GO:0035259]; GTP binding [GO:0005525]; heat shock protein binding [GO:0031072]; peptidyl-prolyl cis-trans isomerase activity [GO:0003755]; phosphoprotein binding [GO:0051219]; protein binding, bridging [GO:0030674]; RNA binding [GO:0003723]; tau protein binding [GO:0048156]; androgen receptor signaling pathway [GO:0030521]; chaperone-mediated protein folding [GO:0061077]; copper ion transport [GO:0006825]; embryo implantation [GO:0007566]; male sex differentiation [GO:0046661]; negative regulation of microtubule polymerization [GO:0031115]; negative regulation of microtubule polymerization or depolymerization [GO:0031111]; negative regulation of neuron projection development [GO:0010977]; prostate gland development [GO:0030850]; protein folding [GO:0006457]; protein peptidyl-prolyl isomerization [GO:0000413]; protein-containing complex localization [GO:0031503]; regulation of cellular response to heat [GO:1900034]; steroid hormone receptor complex assembly [GO:0006463]

location:
SUBCELLULAR LOCATION: Cytoplasm, cytosol {ECO:0000269|PubMed:2378870}. Mitochondrion {ECO:0000269|PubMed:21730050}. Nucleus {ECO:0000250|UniProtKB:P30416}. Cytoplasm, cytoskeleton {ECO:0000250|UniProtKB:Q9QVC8}. Cell projection, axon {ECO:0000250|UniProtKB:Q9QVC8}. Note=Shuttles from mitochondria to nucleus; co-localizes in mitochondria with the glucocorticoid receptor (PubMed:21730050). Colocalized with MAPT/TAU in the distal part of the primary cortical neurons (By similarity). {ECO:0000250|UniProtKB:Q9QVC8, ECO:0000269|PubMed:21730050}.


uniprotID: Q13451
geneSymbol: FKBP5
reactome: R-HSA-3371497;R-HSA-8939211;
length: 457
go: ENSG00000096060;
location: SUBCELLULAR LOCATION: Cytoplasm. Nucleus.
pdb:
1KT0;3O5D;3O5E;3O5F;3O5G;3O5I;3O5J;3O5K;3O5L;3O5M;3O5O;3O5P;3O5Q;3O5R;4DRH;4DRI;4DRK;4DRM;4DRN;4DRO;4DRP;4DRQ;4JFI;4JFJ;4JFK;4JFL;4JFM;4R0X;4TW6;4TW7;4TX0;4W9O;4W9P;4W9Q;5BXJ;5DIT;5DIU;5DIV;5NJX;5OBK;5OMP;

name:
Peptidyl-prolyl cis-trans isomerase FKBP5 (PPIase FKBP5) (EC 5.2.1.8) (51 kDa FK506-binding protein) (51 kDa FKBP) (FKBP-51) (54 kDa progesterone receptor-associated immunophilin) (Androgen-regulated protein 6) (FF1 antigen) (FK506-binding protein 5) (FKBP-5) (FKBP54) (p54) (HSP90-binding immunophilin) (Rotamase)

sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; extracellular exosome [GO:0070062]; membrane [GO:0016020]; nucleoplasm [GO:0005654]; FK506 binding [GO:0005528]; heat shock protein binding [GO:0031072]; peptidyl-prolyl cis-trans isomerase activity [GO:0003755]; chaperone-mediated protein folding [GO:0061077]; protein folding [GO:0006457]; protein peptidyl-prolyl isomerization [GO:0000413]; response to bacterium [GO:0009617]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q13451-1; Sequence=Displayed; Name=2; IsoId=Q13451-2; Sequence=VSP_044820, VSP_044821; Note=No experimental confirmation available.; 


uniprotID: O75344
geneSymbol: FKBP6
reactome: R-HSA-1221632;R-HSA-5601884;
pdb: 3B7X;
length: 327
go: ENSG00000077800;
snps: rs147213094
name:
Inactive peptidyl-prolyl cis-trans isomerase FKBP6 (Inactive PPIase FKBP6) (36 kDa FK506-binding protein) (36 kDa FKBP) (FKBP-36) (FK506-binding protein 6) (FKBP-6) (Immunophilin FKBP36)

sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; synaptonemal complex [GO:0000795]; FK506 binding [GO:0005528]; Hsp90 protein binding [GO:0051879]; identical protein binding [GO:0042802]; cell differentiation [GO:0030154]; DNA methylation involved in gamete generation [GO:0043046]; gene silencing by RNA [GO:0031047]; meiotic cell cycle [GO:0051321]; piRNA metabolic process [GO:0034587]; positive regulation of viral genome replication [GO:0045070]; protein folding [GO:0006457]; protein peptidyl-prolyl isomerization [GO:0000413]; spermatogenesis [GO:0007283]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=O75344-1; Sequence=Displayed; Name=2; IsoId=O75344-2; Sequence=VSP_042038; Note=No experimental confirmation available.; Name=3; IsoId=O75344-3; Sequence=VSP_054251; 

location:
SUBCELLULAR LOCATION: Cytoplasm, cytosol {ECO:0000250}. Nucleus {ECO:0000250}. Chromosome {ECO:0000250}. Note=Does not localize to pi-bodies. Localizes to meiotic chromosome cores and regions of homologous chromosome synapsis (By similarity). {ECO:0000250}.


uniprotID: Q9Y680
geneSymbol: FKBP7
length: 222
go: ENSG00000079150;
location: SUBCELLULAR LOCATION: Endoplasmic reticulum lumen {ECO:0000255|PROSITE-ProRule:PRU10138}.
name:
Peptidyl-prolyl cis-trans isomerase FKBP7 (PPIase FKBP7) (EC 5.2.1.8) (23 kDa FK506-binding protein) (23 kDa FKBP) (FKBP-23) (FK506-binding protein 7) (FKBP-7) (Rotamase)

sequence:

opentargets:
endoplasmic reticulum lumen [GO:0005788]; calcium ion binding [GO:0005509]; peptidyl-prolyl cis-trans isomerase activity [GO:0003755]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=2; IsoId=Q9Y680-2; Sequence=Displayed; Name=3; IsoId=Q9Y680-3; Sequence=VSP_041018; Name=1; IsoId=Q9Y680-1; Sequence=VSP_059387, VSP_059388; Note=May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay. {ECO:0000305}; 


uniprotID: P13929
geneSymbol: ENO3
reactome: R-HSA-70171;R-HSA-70263;
pdb: 2XSX;
length: 434
go: ENSG00000108515;
drug: DB03465;DB02726;DB01819;DB03645;
snps: rs238238 rs238239 rs121918403 rs121918404
name:
Beta-enolase (EC 4.2.1.11) (2-phospho-D-glycerate hydro-lyase) (Enolase 3) (Muscle-specific enolase) (MSE) (Skeletal muscle enolase)

sequence:

opentargets:
cytosol [GO:0005829]; extracellular exosome [GO:0070062]; extracellular space [GO:0005615]; membrane [GO:0016020]; phosphopyruvate hydratase complex [GO:0000015]; plasma membrane [GO:0005886]; magnesium ion binding [GO:0000287]; phosphopyruvate hydratase activity [GO:0004634]; protein heterodimerization activity [GO:0046982]; protein homodimerization activity [GO:0042803]; aging [GO:0007568]; canonical glycolysis [GO:0061621]; gluconeogenesis [GO:0006094]; response to drug [GO:0042493]; skeletal muscle tissue regeneration [GO:0043403]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=P13929-1; Sequence=Displayed; Name=2; IsoId=P13929-2; Sequence=VSP_037753; Note=No experimental confirmation available.; Name=3; IsoId=P13929-3; Sequence=VSP_037752; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasm. Note=Localized to the Z line. Some colocalization with CKM at M-band (By similarity). {ECO:0000250}.


