# annotation

uniprotID: P54652
geneSymbol: HSPA2
reactome: R-HSA-1221632;R-HSA-3371453;R-HSA-3371497;R-HSA-3371568;
pdb: 3I33;4FSV;5FPD;5FPE;5FPM;5FPN;
name: Heat shock-related 70 kDa protein 2 (Heat shock 70 kDa protein 2)
length: 639
go: ENSG00000126803;
snps: rs45456191 rs45447398
sequence:

opentargets:
blood microparticle [GO:0072562]; CatSper complex [GO:0036128]; cell surface [GO:0009986]; cytoplasm [GO:0005737]; cytosol [GO:0005829]; extracellular exosome [GO:0070062]; male germ cell nucleus [GO:0001673]; meiotic spindle [GO:0072687]; membrane [GO:0016020]; myelin sheath [GO:0043209]; nucleus [GO:0005634]; plasma membrane [GO:0005886]; synaptonemal complex [GO:0000795]; ATP binding [GO:0005524]; ATPase activity [GO:0016887]; ATPase activity, coupled [GO:0042623]; chaperone binding [GO:0051087]; disordered domain specific binding [GO:0097718]; enzyme binding [GO:0019899]; glycolipid binding [GO:0051861]; heat shock protein binding [GO:0031072]; misfolded protein binding [GO:0051787]; protein binding involved in protein folding [GO:0044183]; tau protein binding [GO:0048156]; unfolded protein binding [GO:0051082]; cellular response to heat [GO:0034605]; cellular response to unfolded protein [GO:0034620]; chaperone cofactor-dependent protein refolding [GO:0051085]; male meiosis I [GO:0007141]; male meiotic nuclear division [GO:0007140]; negative regulation of inclusion body assembly [GO:0090084]; positive regulation of calcium-transporting ATPase activity [GO:1901896]; positive regulation of G2/M transition of mitotic cell cycle [GO:0010971]; positive regulation of protein phosphorylation [GO:0001934]; protein refolding [GO:0042026]; response to cold [GO:0009409]; response to heat [GO:0009408]; response to unfolded protein [GO:0006986]; spermatid development [GO:0007286]; spermatogenesis [GO:0007283]; synaptonemal complex disassembly [GO:0070194]; vesicle-mediated transport [GO:0016192]

location:
SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton, spindle {ECO:0000250|UniProtKB:P17156}. Note=Colocalizes with SHCBP1L at spindle during the meiosis process. {ECO:0000250|UniProtKB:P17156}.


uniprotID: P00738
geneSymbol: HP
reactome: R-HSA-2168880;R-HSA-6798695;
pdb: 4WJG;4X0L;5HU6;
name: Haptoglobin (Zonulin) [Cleaved into: Haptoglobin alpha chain; Haptoglobin beta chain]
length: 406
go: ENSG00000257017;
snps: rs199926732 rs200877317 rs104894517 rs189115161
location: SUBCELLULAR LOCATION: Secreted.
sequence:

opentargets:
blood microparticle [GO:0072562]; endocytic vesicle lumen [GO:0071682]; extracellular exosome [GO:0070062]; extracellular region [GO:0005576]; extracellular space [GO:0005615]; haptoglobin-hemoglobin complex [GO:0031838]; specific granule lumen [GO:0035580]; tertiary granule lumen [GO:1904724]; antioxidant activity [GO:0016209]; hemoglobin binding [GO:0030492]; serine-type endopeptidase activity [GO:0004252]; acute inflammatory response [GO:0002526]; acute-phase response [GO:0006953]; defense response [GO:0006952]; defense response to bacterium [GO:0042742]; negative regulation of hydrogen peroxide catabolic process [GO:2000296]; negative regulation of oxidoreductase activity [GO:0051354]; neutrophil degranulation [GO:0043312]; positive regulation of cell death [GO:0010942]; receptor-mediated endocytosis [GO:0006898]; response to hydrogen peroxide [GO:0042542]; response to organic substance [GO:0010033]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P00738-1; Sequence=Displayed; Name=2; IsoId=P00738-2; Sequence=VSP_055024; Note=No experimental confirmation available. Gene prediction based on EST data.; 


uniprotID: Q00613
geneSymbol: HSF1
reactome: R-HSA-3371453;R-HSA-3371511;R-HSA-3371568;R-HSA-3371571;
pdb: 2LDU;5D5U;5D5V;5HDG;5HDN;
name: Heat shock factor protein 1 (HSF 1) (Heat shock transcription factor 1) (HSTF 1)
length: 529
go: ENSG00000185122;
sequence:

opentargets:
centrosome [GO:0005813]; condensed chromosome kinetochore [GO:0000777]; cytoplasm [GO:0005737]; cytosol [GO:0005829]; euchromatin [GO:0000791]; heterochromatin [GO:0000792]; kinetochore [GO:0000776]; mitotic spindle pole [GO:0097431]; nuclear stress granule [GO:0097165]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; perinuclear region of cytoplasm [GO:0048471]; PML body [GO:0016605]; pronucleus [GO:0045120]; ribonucleoprotein complex [GO:1990904]; chromatin DNA binding [GO:0031490]; DNA binding [GO:0003677]; DNA-binding transcription factor activity [GO:0003700]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; heat shock protein binding [GO:0031072]; Hsp90 protein binding [GO:0051879]; identical protein binding [GO:0042802]; promoter-specific chromatin binding [GO:1990841]; protein heterodimerization activity [GO:0046982]; protein kinase binding [GO:0019901]; protein self-association [GO:0043621]; proximal promoter DNA-binding transcription repressor activity, RNA polymerase II-specific [GO:0001078]; RNA polymerase II intronic transcription regulatory region sequence-specific DNA binding [GO:0001162]; RNA polymerase II proximal promoter sequence-specific DNA binding [GO:0000978]; sequence-specific DNA binding [GO:0043565]; sequence-specific single stranded DNA binding [GO:0098847]; STAT family protein binding [GO:0097677]; translation elongation factor binding [GO:0061770]; cellular protein-containing complex assembly [GO:0034622]; cellular response to angiotensin [GO:1904385]; cellular response to cadmium ion [GO:0071276]; cellular response to copper ion [GO:0071280]; cellular response to diamide [GO:0072738]; cellular response to estradiol stimulus [GO:0071392]; cellular response to gamma radiation [GO:0071480]; cellular response to heat [GO:0034605]; cellular response to hydrogen peroxide [GO:0070301]; cellular response to L-glutamine [GO:1904845]; cellular response to lipopolysaccharide [GO:0071222]; cellular response to nitroglycerin [GO:1904843]; cellular response to potassium ion [GO:0035865]; cellular response to sodium arsenite [GO:1903936]; cellular response to unfolded protein [GO:0034620]; defense response [GO:0006952]; DNA repair [GO:0006281]; embryonic placenta development [GO:0001892]; embryonic process involved in female pregnancy [GO:0060136]; female meiotic nuclear division [GO:0007143]; MAPK cascade [GO:0000165]; mRNA processing [GO:0006397]; mRNA transcription [GO:0009299]; mRNA transport [GO:0051028]; negative regulation of cardiac muscle cell apoptotic process [GO:0010667]; negative regulation of cell proliferation [GO:0008285]; negative regulation of double-strand break repair via nonhomologous end joining [GO:2001033]; negative regulation of inclusion body assembly [GO:0090084]; negative regulation of neuron death [GO:1901215]; negative regulation of transcription by RNA polymerase II [GO:0000122]; negative regulation of tumor necrosis factor production [GO:0032720]; positive regulation of apoptotic DNA fragmentation [GO:1902512]; positive regulation of cell proliferation [GO:0008284]; positive regulation of cold-induced thermogenesis [GO:0120162]; positive regulation of cysteine-type endopeptidase activity involved in apoptotic process [GO:0043280]; positive regulation of inclusion body assembly [GO:0090261]; positive regulation of microtubule binding [GO:1904528]; positive regulation of mitotic cell cycle [GO:0045931]; positive regulation of mRNA polyadenylation [GO:1900365]; positive regulation of multicellular organism growth [GO:0040018]; positive regulation of transcription by RNA polymerase II [GO:0045944]; positive regulation of transcription from RNA polymerase II promoter in response to heat stress [GO:0061408]; positive regulation of tyrosine phosphorylation of STAT protein [GO:0042531]; protein homooligomerization [GO:0051260]; protein homotrimerization [GO:0070207]; regulation of cellular response to heat [GO:1900034]; regulation of protein heterodimerization activity [GO:0043497]; response to activity [GO:0014823]; response to hypobaric hypoxia [GO:1990910]; response to psychosocial stress [GO:1990911]; response to testosterone [GO:0033574]; spermatogenesis [GO:0007283]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=Long; IsoId=Q00613-1; Sequence=Displayed; Name=Short; IsoId=Q00613-2; Sequence=VSP_002414, VSP_002415; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:10413683, ECO:0000269|PubMed:10747973, ECO:0000269|PubMed:11447121, ECO:0000269|PubMed:11514557, ECO:0000269|PubMed:12665592, ECO:0000269|PubMed:12917326, ECO:0000269|PubMed:14707147, ECO:0000269|PubMed:15661742, ECO:0000269|PubMed:19229036, ECO:0000269|PubMed:21085490, ECO:0000269|PubMed:25963659, ECO:0000269|PubMed:26359349, ECO:0000269|PubMed:27189267, ECO:0000269|PubMed:27354066, ECO:0000269|PubMed:7623826, ECO:0000269|PubMed:8455624}. Cytoplasm {ECO:0000269|PubMed:10413683, ECO:0000269|PubMed:10747973, ECO:0000269|PubMed:12917326, ECO:0000269|PubMed:15661742, ECO:0000269|PubMed:21085490, ECO:0000269|PubMed:26159920, ECO:0000269|PubMed:26359349, ECO:0000269|PubMed:27354066, ECO:0000269|PubMed:7623826, ECO:0000269|PubMed:8455624}. Nucleus, nucleoplasm {ECO:0000269|PubMed:10359787}. Cytoplasm, perinuclear region {ECO:0000269|PubMed:21085490}. Cytoplasm, cytoskeleton, spindle pole {ECO:0000269|PubMed:18794143}. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome {ECO:0000269|PubMed:18794143}. Chromosome, centromere, kinetochore {ECO:0000269|PubMed:18794143}. Note=The monomeric form is cytoplasmic in unstressed cells (PubMed:8455624, PubMed:26159920). Predominantly nuclear protein in both unstressed and heat shocked cells (PubMed:10413683, PubMed:10359787). Translocates in the nucleus upon heat shock (PubMed:8455624). Nucleocytoplasmic shuttling protein (PubMed:26159920). Colocalizes with IER5 in the nucleus (PubMed:27354066). Colocalizes with BAG3 to the nucleus upon heat stress (PubMed:8455624, PubMed:26159920). Localizes in subnuclear granules called nuclear stress bodies (nSBs) upon heat shock (PubMed:11447121, PubMed:11514557, PubMed:10359787, PubMed:25963659, PubMed:10747973, PubMed:24581496, PubMed:19229036). Colocalizes with SYMPK and SUMO1 in nSBs upon heat shock (PubMed:11447121, PubMed:12665592, PubMed:11514557, PubMed:14707147, PubMed:10359787). Colocalizes with PRKACA/PKA in the nucleus and nSBs upon heat shock (PubMed:21085490). Relocalizes from the nucleus to the cytoplasm during the attenuation and recovery phase period of the heat shock response (PubMed:26159920). Translocates in the cytoplasm in a YWHAE- and XPO1/CRM1-dependent manner (PubMed:12917326). Together with histone H2AX, redistributed in discrete nuclear DNA damage-induced foci after ionizing radiation (IR) (PubMed:26359349). Colocalizes with calcium-responsive transactivator SS18L1 at kinetochore region on the mitotic chromosomes (PubMed:18794143). Colocalizes with gamma tubulin at centrosome (PubMed:18794143). Localizes at spindle pole in metaphase (PubMed:18794143). Colocalizes with PLK1 at spindle poles during prometaphase (PubMed:18794143). {ECO:0000269|PubMed:10359787, ECO:0000269|PubMed:10413683, ECO:0000269|PubMed:10747973, ECO:0000269|PubMed:11447121, ECO:0000269|PubMed:11514557, ECO:0000269|PubMed:12665592, ECO:0000269|PubMed:12917326, ECO:0000269|PubMed:14707147, ECO:0000269|PubMed:18794143, ECO:0000269|PubMed:21085490, ECO:0000269|PubMed:24581496, ECO:0000269|PubMed:25963659, ECO:0000269|PubMed:26159920, ECO:0000269|PubMed:26359349, ECO:0000269|PubMed:27354066, ECO:0000269|PubMed:8455624}.


uniprotID: P52597
geneSymbol: HNRNPF
reactome: R-HSA-6803529;R-HSA-72163;R-HSA-72203;R-HSA-8950505;
pdb: 2HGL;2HGM;2HGN;2KFY;2KG0;2KG1;3TFY;
length: 415
go: ENSG00000169813;
snps: rs17851426
location: SUBCELLULAR LOCATION: Nucleus, nucleoplasm.
name:
Heterogeneous nuclear ribonucleoprotein F (hnRNP F) (Nucleolin-like protein mcs94-1) [Cleaved into: Heterogeneous nuclear ribonucleoprotein F, N-terminally processed]

sequence:

opentargets:
catalytic step 2 spliceosome [GO:0071013]; cytosol [GO:0005829]; membrane [GO:0016020]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; plasma membrane [GO:0005886]; RNA binding [GO:0003723]; single-stranded RNA binding [GO:0003727]; TBP-class protein binding [GO:0017025]; fibroblast growth factor receptor signaling pathway [GO:0008543]; interleukin-12-mediated signaling pathway [GO:0035722]; mRNA splicing, via spliceosome [GO:0000398]; regulation of RNA splicing [GO:0043484]; RNA metabolic process [GO:0016070]; RNA processing [GO:0006396]


uniprotID: P07900
geneSymbol: HSP90AA1
length: 732
go: ENSG00000080824;
drug: DB07317;DB03080;DB08786;DB03809;DB03899;DB05134;DB02424;DB07325;DB00716;DB00615;DB06070;
snps: rs8005905
reactome:
R-HSA-1227986;R-HSA-1236382;R-HSA-1474151;R-HSA-192905;R-HSA-2029482;R-HSA-203615;R-HSA-2565942;R-HSA-3000484;R-HSA-3371497;R-HSA-3371511;R-HSA-3371568;R-HSA-3371571;R-HSA-380259;R-HSA-380270;R-HSA-380284;R-HSA-380320;R-HSA-399954;R-HSA-4420097;R-HSA-5218920;R-HSA-5336415;R-HSA-5601884;R-HSA-5620912;R-HSA-5637810;R-HSA-6785807;R-HSA-6798695;R-HSA-8852276;R-HSA-8854518;R-HSA-8863795;R-HSA-8939211;R-HSA-9018519;

pdb:
1BYQ;1OSF;1UY6;1UY7;1UY8;1UY9;1UYC;1UYD;1UYE;1UYF;1UYG;1UYH;1UYI;1UYK;1UYL;1YC1;1YC3;1YC4;1YER;1YES;1YET;2BSM;2BT0;2BUG;2BYH;2BYI;2BZ5;2C2L;2CCS;2CCT;2CCU;2FWY;2FWZ;2H55;2JJC;2K5B;2QF6;2QFO;2QG0;2QG2;2UWD;2VCI;2VCJ;2WI1;2WI2;2WI3;2WI4;2WI5;2WI6;2WI7;2XAB;2XDK;2XDL;2XDS;2XDU;2XDX;2XHR;2XHT;2XHX;2XJG;2XJJ;2XJX;2XK2;2YE2;2YE3;2YE4;2YE5;2YE6;2YE7;2YE8;2YE9;2YEA;2YEB;2YEC;2YED;2YEE;2YEF;2YEG;2YEH;2YEI;2YEJ;2YI0;2YI5;2YI6;2YI7;2YJW;2YJX;2YK2;2YK9;2YKB;2YKC;2YKE;2YKI;2YKJ;3B24;3B25;3B26;3B27;3B28;3BM9;3BMY;3D0B;3EKO;3EKR;3FT5;3FT8;3HEK;3HHU;3HYY;3HYZ;3HZ1;3HZ5;3INW;3INX;3K97;3K98;3K99;3MNR;3O0I;3OW6;3OWB;3OWD;3Q6M;3Q6N;3QDD;3QTF;3R4M;3R4N;3R4O;3R4P;3R91;3R92;3RKZ;3RLP;3RLQ;3RLR;3T0H;3T0Z;3T10;3T1K;3T2S;3TUH;3VHA;3VHC;3VHD;3WHA;3WQ9;4AIF;4AWO;4AWP;4AWQ;4B7P;4BQG;4BQJ;4CGQ;4CGU;4CGV;4CGW;4CWF;4CWN;4CWO;4CWP;4CWQ;4CWR;4CWS;4CWT;4EEH;4EFT;4EFU;4EGH;4EGI;4EGK;4FCP;4FCQ;4FCR;4HY6;4JQL;4L8Z;4L90;4L91;4L93;4L94;4LWE;4LWF;4LWG;4LWH;4LWI;4NH7;4NH8;4O04;4O05;4O07;4O09;4O0B;4R3M;4U93;4W7T;4XIP;4XIQ;4XIR;4XIT;4YKQ;4YKR;4YKT;4YKU;4YKW;4YKX;4YKY;4YKZ;5CF0;5FNC;5FND;5FNF;5GGZ;5J20;5J27;5J2V;5J2X;5J64;5J6L;5J6M;5J6N;5J80;5J82;5J86;5J8M;5J8U;5J9X;5LNY;5LNZ;5LO0;5LO1;5LO5;5LO6;5LQ9;5LR1;5LR7;5LRL;5LRZ;5LS1;5M4E;5M4H;5NYH;5NYI;5OCI;5ODX;5T21;5VYY;5XQD;5XQE;5XR5;5XR9;5XRB;5XRE;6CEO;6EI5;6EL5;6ELN;6ELO;6ELP;6EY8;6EY9;6EYA;6EYB;6F1N;6FDP;

name:
Heat shock protein HSP 90-alpha (Heat shock 86 kDa) (HSP 86) (HSP86) (Lipopolysaccharide-associated protein 2) (LAP-2) (LPS-associated protein 2) (Renal carcinoma antigen NY-REN-38)

sequence:

opentargets:
axonal growth cone [GO:0044295]; cytoplasm [GO:0005737]; cytosol [GO:0005829]; dendritic growth cone [GO:0044294]; endocytic vesicle lumen [GO:0071682]; extracellular exosome [GO:0070062]; extracellular region [GO:0005576]; ficolin-1-rich granule lumen [GO:1904813]; lysosomal lumen [GO:0043202]; melanosome [GO:0042470]; membrane [GO:0016020]; neuronal cell body [GO:0043025]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; perinuclear region of cytoplasm [GO:0048471]; plasma membrane [GO:0005886]; protein-containing complex [GO:0032991]; secretory granule lumen [GO:0034774]; ATP binding [GO:0005524]; ATPase activity [GO:0016887]; ATPase activity, coupled [GO:0042623]; disordered domain specific binding [GO:0097718]; DNA polymerase binding [GO:0070182]; GTPase binding [GO:0051020]; histone deacetylase binding [GO:0042826]; identical protein binding [GO:0042802]; MHC class II protein complex binding [GO:0023026]; nitric-oxide synthase regulator activity [GO:0030235]; nucleotide binding [GO:0000166]; protein homodimerization activity [GO:0042803]; protein tyrosine kinase activity [GO:0004713]; protein tyrosine kinase binding [GO:1990782]; RNA binding [GO:0003723]; scaffold protein binding [GO:0097110]; tau protein binding [GO:0048156]; TPR domain binding [GO:0030911]; ubiquitin protein ligase binding [GO:0031625]; unfolded protein binding [GO:0051082]; axon extension [GO:0048675]; central nervous system neuron axonogenesis [GO:0021955]; chaperone-mediated autophagy [GO:0061684]; chaperone-mediated protein complex assembly [GO:0051131]; ciliary basal body-plasma membrane docking [GO:0097711]; cofactor metabolic process [GO:0051186]; cytokine-mediated signaling pathway [GO:0019221]; ERBB2 signaling pathway [GO:0038128]; establishment of cell polarity [GO:0030010]; Fc-gamma receptor signaling pathway involved in phagocytosis [GO:0038096]; G2/M transition of mitotic cell cycle [GO:0000086]; mitochondrial transport [GO:0006839]; neutrophil degranulation [GO:0043312]; positive regulation of cellular protein catabolic process [GO:1903364]; positive regulation of nitric oxide biosynthetic process [GO:0045429]; positive regulation of peptidyl-serine phosphorylation [GO:0033138]; positive regulation of protein kinase B signaling [GO:0051897]; positive regulation of protein phosphorylation [GO:0001934]; positive regulation of protein polymerization [GO:0032273]; positive regulation of tau-protein kinase activity [GO:1902949]; positive regulation of telomerase activity [GO:0051973]; protein import into mitochondrial outer membrane [GO:0045040]; protein refolding [GO:0042026]; protein stabilization [GO:0050821]; protein unfolding [GO:0043335]; receptor-mediated endocytosis [GO:0006898]; regulation of cellular protein localization [GO:1903827]; regulation of cellular response to heat [GO:1900034]; regulation of G2/M transition of mitotic cell cycle [GO:0010389]; regulation of nitric-oxide synthase activity [GO:0050999]; regulation of protein complex assembly [GO:0043254]; regulation of protein ubiquitination [GO:0031396]; response to antibiotic [GO:0046677]; response to cold [GO:0009409]; response to heat [GO:0009408]; response to unfolded protein [GO:0006986]; signal transduction [GO:0007165]; telomerase holoenzyme complex assembly [GO:1905323]; telomere maintenance via telomerase [GO:0007004]; vascular endothelial growth factor receptor signaling pathway [GO:0048010]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; Synonyms=HSP90AA1-1, HSP90-alpha 2; IsoId=P07900-1; Sequence=Displayed; Name=2; Synonyms=HSP90AA1-2; IsoId=P07900-2; Sequence=VSP_026604; 

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000250|UniProtKB:P07901}. Cytoplasm {ECO:0000250|UniProtKB:P07901}. Melanosome {ECO:0000269|PubMed:17081065}. Cell membrane {ECO:0000269|PubMed:11276205}. Note=Identified by mass spectrometry in melanosome fractions from stage I to stage IV.


uniprotID: Q96LI6
geneSymbol: HSFY1; HSFY2
length: 401
go: ENSG00000169953;
name:
Heat shock transcription factor, Y-linked (Heat shock transcription factor 2-like protein) (HSF2-like)

sequence:

opentargets:
cytoplasm [GO:0005737]; nucleus [GO:0005634]; DNA-binding transcription factor activity [GO:0003700]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; RNA polymerase II proximal promoter sequence-specific DNA binding [GO:0000978]; sequence-specific DNA binding [GO:0043565]; cellular response to heat [GO:0034605]; positive regulation of transcription from RNA polymerase II promoter in response to heat stress [GO:0061408]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q96LI6-1; Sequence=Displayed; Name=2; IsoId=Q96LI6-2; Sequence=VSP_009179, VSP_009181; Note=No experimental confirmation available.; Name=3; IsoId=Q96LI6-3; Sequence=VSP_009180, VSP_009182; 

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:15044259}. Cytoplasm {ECO:0000269|PubMed:15044259}.


uniprotID: Q86UW8
geneSymbol: HAPLN4
name: Hyaluronan and proteoglycan link protein 4 (Brain link protein 2)
length: 402
drug: DB08818;
location: SUBCELLULAR LOCATION: Secreted, extracellular space, extracellular matrix {ECO:0000250}.
sequence:

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


uniprotID: P35680
geneSymbol: HNF1B
reactome: R-HSA-210744;R-HSA-210747;
pdb: 2DA6;2H8R;5K9S;
length: 557
go: ENSG00000275410;
location: SUBCELLULAR LOCATION: Nucleus.
name:
Hepatocyte nuclear factor 1-beta (HNF-1-beta) (HNF-1B) (Homeoprotein LFB3) (Transcription factor 2) (TCF-2) (Variant hepatic nuclear factor 1) (vHNF1)

sequence:

opentargets:
nucleoplasm [GO:0005654]; nucleus [GO:0005634]; transcription factor complex [GO:0005667]; DNA binding [GO:0003677]; DNA-binding transcription factor activity [GO:0003700]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; protein heterodimerization activity [GO:0046982]; protein homodimerization activity [GO:0042803]; protein-containing complex binding [GO:0044877]; proximal promoter sequence-specific DNA binding [GO:0000987]; transcription factor activity, RNA polymerase II distal enhancer sequence-specific binding [GO:0003705]; anterior/posterior pattern specification [GO:0009952]; branching morphogenesis of an epithelial tube [GO:0048754]; circadian regulation of gene expression [GO:0032922]; embryonic digestive tract morphogenesis [GO:0048557]; endocrine pancreas development [GO:0031018]; endodermal cell fate specification [GO:0001714]; epithelial cell proliferation [GO:0050673]; genitalia development [GO:0048806]; hepatoblast differentiation [GO:0061017]; hepatocyte differentiation [GO:0070365]; hindbrain development [GO:0030902]; inner cell mass cell differentiation [GO:0001826]; insulin secretion [GO:0030073]; kidney development [GO:0001822]; mesonephric duct formation [GO:0072181]; negative regulation of mesenchymal cell apoptotic process involved in mesonephric nephron morphogenesis [GO:0061296]; negative regulation of mesenchymal cell apoptotic process involved in metanephros development [GO:1900212]; negative regulation of transcription by RNA polymerase II [GO:0000122]; Notch signaling pathway [GO:0007219]; pancreas development [GO:0031016]; positive regulation of transcription initiation from RNA polymerase II promoter [GO:0060261]; positive regulation of transcription, DNA-templated [GO:0045893]; pronephric nephron tubule development [GO:0039020]; pronephros development [GO:0048793]; protein-DNA complex assembly [GO:0065004]; regulation of branch elongation involved in ureteric bud branching [GO:0072095]; regulation of endodermal cell fate specification [GO:0042663]; regulation of pronephros size [GO:0035565]; regulation of transcription by RNA polymerase II [GO:0006357]; regulation of Wnt signaling pathway [GO:0030111]; response to drug [GO:0042493]; response to glucose [GO:0009749]; response to organic cyclic compound [GO:0014070]; ureteric bud elongation [GO:0060677]

snps:
rs544890850 rs147816724 rs144425830 rs894213416 rs121918674 rs121918675 rs761415487 rs536638039 rs886043813 rs113042313 rs121918673 rs187556368 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=A; IsoId=P35680-1; Sequence=Displayed; Name=B; IsoId=P35680-2; Sequence=VSP_002254; Name=C; IsoId=P35680-3; Sequence=VSP_002255, VSP_002256; Name=4; IsoId=P35680-4; Sequence=VSP_053327, VSP_002254, VSP_053328, VSP_053329; 


uniprotID: Q9NWW0
geneSymbol: HCFC1R1
name: Host cell factor C1 regulator 1 (HCF-1 beta-propeller-interacting protein)
length: 138
go: ENSG00000103145;
opentargets: cytoplasm [GO:0005737]; nucleoplasm [GO:0005654]
snps: rs10508
sequence:
MILQQPLQRGPQGGAQRLPRAALGVTWGLDASSPLRGAVPMSTKRRLEEEQEPLRKQFLSEENMATHFSQLSLHNDHPYCSPPMTFSPALPPLRSPCSELLLWRYPGSLIPEALRLLRLGDTPSPPYPATPAGDIMEL

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9NWW0-1; Sequence=Displayed; Name=2; IsoId=Q9NWW0-2; Sequence=VSP_034082; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:12235138}. Nucleus {ECO:0000269|PubMed:12235138}. Note=Shuttles between the nucleus and cytoplasm in a CRM1-dependent manner.


uniprotID: Q8WVV9
geneSymbol: HNRNPLL
name: Heterogeneous nuclear ribonucleoprotein L-like (hnRNPLL) (Stromal RNA-regulating factor)
length: 542
go: ENSG00000143889;
sequence:

opentargets:
membrane [GO:0016020]; nucleus [GO:0005634]; mRNA binding [GO:0003729]; RNA binding [GO:0003723]; mRNA processing [GO:0006397]; positive regulation of RNA splicing [GO:0033120]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=5;  Name=1; IsoId=Q8WVV9-1; Sequence=Displayed; Name=2; IsoId=Q8WVV9-2; Sequence=VSP_013286, VSP_013287; Note=No experimental confirmation available.; Name=3; IsoId=Q8WVV9-3; Sequence=VSP_013285, VSP_013288, VSP_013289; Note=No experimental confirmation available.; Name=4; IsoId=Q8WVV9-4; Sequence=VSP_013285; Note=No experimental confirmation available.; Name=5; IsoId=Q8WVV9-5; Sequence=VSP_054470; 


uniprotID: Q3SXM5
geneSymbol: HSDL1
length: 330
go: ENSG00000103160;
opentargets: mitochondrion [GO:0005739]
snps: rs11540436 rs4378600
location: SUBCELLULAR LOCATION: Mitochondrion {ECO:0000269|PubMed:19026618}.
name:
Inactive hydroxysteroid dehydrogenase-like protein 1 (Short chain dehydrogenase/reductase family 12C member 3)

sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q3SXM5-1; Sequence=Displayed; Name=2; IsoId=Q3SXM5-2; Sequence=VSP_042823; Note=No experimental confirmation available.; 


uniprotID: Q58FG0
geneSymbol: HSP90AA5P
length: 334
location: SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250}.
name:
Putative heat shock protein HSP 90-alpha A5 (Heat shock protein 90-alpha E) (Heat shock protein 90Ae)

sequence:

opentargets:
cytoplasm [GO:0005737]; ATP binding [GO:0005524]; unfolded protein binding [GO:0051082]; protein folding [GO:0006457]


uniprotID: P04553
geneSymbol: PRM1
pdb: 2AWR;
name: Sperm protamine P1 (Cysteine-rich protamine)
sequence: MARYRCCRSQSRSRYYRQRQRSRRRRRRSCQTRRRAMRCCRPRYRPRCRRH
length: 51
go: ENSG00000175646;
location: SUBCELLULAR LOCATION: Nucleus. Chromosome.
opentargets:
nucleoplasm [GO:0005654]; nucleosome [GO:0000786]; DNA binding [GO:0003677]; cell differentiation [GO:0030154]; chromosome condensation [GO:0030261]; DNA packaging [GO:0006323]; multicellular organism development [GO:0007275]; spermatogenesis [GO:0007283]


uniprotID: Q16082
geneSymbol: HSPB2
pdb: 6F2R;
name: Heat shock protein beta-2 (HspB2) (DMPK-binding protein) (MKBP)
length: 182
go: ENSG00000170276;
snps: rs4252589
sequence:
MSGRSVPHAHPATAEYEFANPSRLGEQRFGEGLLPEEILTPTLYHGYYVRPRAAPAGEGSRAGASELRLSEGKFQAFLDVSHFTPDEVTVRTVDNLLEVSARHPQRLDRHGFVSREFCRTYVLPADVDPWRVRAALSHDGILNLEAPRGGRHLDTEVNEVYISLLPAPPDPEEEEEAAIVEP

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; nucleus [GO:0005634]; enzyme activator activity [GO:0008047]; response to unfolded protein [GO:0006986]

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:19464326}. Nucleus {ECO:0000269|PubMed:19464326}. Note=Localizes to nuclear foci.


uniprotID: P34932
geneSymbol: HSPA4
reactome: R-HSA-3371453;
name: Heat shock 70 kDa protein 4 (HSP70RY) (Heat shock 70-related protein APG-2)
length: 840
go: ENSG00000170606;
location: SUBCELLULAR LOCATION: Cytoplasm {ECO:0000305}.
sequence:

opentargets:
cytosol [GO:0005829]; extracellular exosome [GO:0070062]; nucleus [GO:0005634]; ATP binding [GO:0005524]; chaperone-mediated protein complex assembly [GO:0051131]; protein import into mitochondrial outer membrane [GO:0045040]; response to unfolded protein [GO:0006986]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P34932-1; Sequence=Displayed; Name=2; IsoId=P34932-2; Sequence=VSP_056885; 


uniprotID: Q9UBC0
geneSymbol: ONECUT1
reactome: R-HSA-210744;R-HSA-210747;
name: Hepatocyte nuclear factor 6 (HNF-6) (One cut domain family member 1) (One cut homeobox 1)
length: 465
go: ENSG00000169856;
snps: rs74805019
location: SUBCELLULAR LOCATION: Nucleus.
sequence:

opentargets:
nucleus [GO:0005634]; DNA binding [GO:0003677]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; proximal promoter DNA-binding transcription activator activity, RNA polymerase II-specific [GO:0001077]; anatomical structure morphogenesis [GO:0009653]; B cell differentiation [GO:0030183]; cell differentiation [GO:0030154]; cell fate commitment [GO:0045165]; cilium assembly [GO:0060271]; endocrine pancreas development [GO:0031018]; endoderm development [GO:0007492]; epithelial cell development [GO:0002064]; glucose metabolic process [GO:0006006]; liver development [GO:0001889]; negative regulation of transforming growth factor beta receptor signaling pathway [GO:0030512]; Notch signaling pathway [GO:0007219]; positive regulation of cell migration [GO:0030335]; positive regulation of transcription by RNA polymerase II [GO:0045944]; regulation of cell-matrix adhesion [GO:0001952]; regulation of transcription, DNA-templated [GO:0006355]; spleen development [GO:0048536]


uniprotID: Q7LGA3
geneSymbol: HS2ST1
reactome: R-HSA-2022928;
name: Heparan sulfate 2-O-sulfotransferase 1 (2-O-sulfotransferase) (2OST) (EC 2.8.2.-)
length: 356
go: ENSG00000153936;ENSG00000267561;
sequence:

opentargets:
Golgi membrane [GO:0000139]; integral component of membrane [GO:0016021]; membrane [GO:0016020]; heparan sulfate 2-O-sulfotransferase activity [GO:0004394]; sulfotransferase activity [GO:0008146]; glycosaminoglycan biosynthetic process [GO:0006024]; heparan sulfate proteoglycan biosynthetic process, enzymatic modification [GO:0015015]; heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process [GO:0015014]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q7LGA3-1; Sequence=Displayed; Name=2; IsoId=Q7LGA3-2; Sequence=VSP_014062, VSP_014064; Note=No experimental confirmation available.; Name=3; IsoId=Q7LGA3-3; Sequence=VSP_014063; Note=No experimental confirmation available.; 


uniprotID: P34931
geneSymbol: HSPA1L
reactome: R-HSA-3371453;R-HSA-3371497;R-HSA-3371568;R-HSA-3371571;
pdb: 3GDQ;
length: 641
go: ENSG00000204390;
snps: rs9469057 rs34620296 rs34360259 rs482145 rs2227956 rs2227955 rs2075800
name:
Heat shock 70 kDa protein 1-like (Heat shock 70 kDa protein 1L) (Heat shock 70 kDa protein 1-Hom) (HSP70-Hom)

sequence:

opentargets:
blood microparticle [GO:0072562]; cell body [GO:0044297]; cytoplasm [GO:0005737]; cytosol [GO:0005829]; nucleoplasm [GO:0005654]; zona pellucida receptor complex [GO:0002199]; ATP binding [GO:0005524]; ATPase activity [GO:0016887]; ATPase activity, coupled [GO:0042623]; heat shock protein binding [GO:0031072]; misfolded protein binding [GO:0051787]; protein binding involved in protein folding [GO:0044183]; ubiquitin protein ligase binding [GO:0031625]; unfolded protein binding [GO:0051082]; binding of sperm to zona pellucida [GO:0007339]; cellular response to heat [GO:0034605]; cellular response to unfolded protein [GO:0034620]; chaperone cofactor-dependent protein refolding [GO:0051085]; positive regulation of protein targeting to mitochondrion [GO:1903955]; protein refolding [GO:0042026]; regulation of cellular response to heat [GO:1900034]; response to unfolded protein [GO:0006986]


uniprotID: Q9Y251
geneSymbol: HPSE
reactome: R-HSA-2024096;R-HSA-6798695;
pdb: 5E8M;5E97;5E98;5E9B;5E9C;5L9Y;5L9Z;5LA4;5LA7;
length: 543
go: ENSG00000173083;
drug: DB06779;DB01109;
snps: rs11099592
name:
Heparanase (EC 3.2.1.166) (Endo-glucoronidase) (Heparanase-1) (Hpa1) [Cleaved into: Heparanase 8 kDa subunit; Heparanase 50 kDa subunit]

sequence:

opentargets:
extracellular matrix [GO:0031012]; extracellular region [GO:0005576]; intracellular membrane-bounded organelle [GO:0043231]; lysosomal lumen [GO:0043202]; lysosomal membrane [GO:0005765]; lysosome [GO:0005764]; membrane raft [GO:0045121]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; specific granule lumen [GO:0035580]; beta-glucuronidase activity [GO:0004566]; heparanase activity [GO:0030305]; protein dimerization activity [GO:0046983]; syndecan binding [GO:0045545]; angiogenesis involved in wound healing [GO:0060055]; cell-matrix adhesion [GO:0007160]; glycosaminoglycan catabolic process [GO:0006027]; heparan sulfate proteoglycan catabolic process [GO:0030200]; neutrophil degranulation [GO:0043312]; positive regulation of blood coagulation [GO:0030194]; positive regulation of hair follicle development [GO:0051798]; positive regulation of osteoblast proliferation [GO:0033690]; positive regulation of protein kinase B signaling [GO:0051897]; positive regulation of vascular endothelial growth factor production [GO:0010575]; proteoglycan metabolic process [GO:0006029]; regulation of hair follicle development [GO:0051797]; vascular wound healing [GO:0061042]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=Q9Y251-1; Sequence=Displayed; Name=2; Synonyms=55 kDa, splice 5; IsoId=Q9Y251-2; Sequence=VSP_044537; Note=Escapes proteolytic cleavage, devoid of HS degradation activity.; Name=3; Synonyms=ex9-10del; IsoId=Q9Y251-3; Sequence=VSP_044664; Name=4; Synonyms=ex10del; IsoId=Q9Y251-4; Sequence=VSP_053730, VSP_053731; 

location:
SUBCELLULAR LOCATION: Lysosome membrane; Peripheral membrane protein. Secreted. Nucleus. Note=Proheparanase is secreted via vesicles of the Golgi. Interacts with cell membrane heparan sulfate proteoglycans (HSPGs). Endocytosed and accumulates in endosomes. Transferred to lysosomes where it is proteolytically cleaved to produce the active enzyme. Under certain stimuli, transferred to the cell surface. Associates with lipid rafts. Colocalizes with SDC1 in endosomal/lysosomal vesicles. Accumulates in perinuclear lysosomal vesicles. Heparin retains proheparanase in the extracellular medium (By similarity). {ECO:0000250}.


uniprotID: P35914
geneSymbol: HMGCL
reactome: R-HSA-77111;R-HSA-9033241;
pdb: 2CW6;3MP3;3MP4;3MP5;
length: 325
go: ENSG00000117305;
drug: DB04594;
location: SUBCELLULAR LOCATION: Mitochondrion matrix. Peroxisome. Note=Unprocessed form is peroxisomal.
name:
Hydroxymethylglutaryl-CoA lyase, mitochondrial (HL) (HMG-CoA lyase) (EC 4.1.3.4) (3-hydroxy-3-methylglutarate-CoA lyase)

sequence:

opentargets:
cytosol [GO:0005829]; mitochondrial matrix [GO:0005759]; mitochondrion [GO:0005739]; peroxisomal matrix [GO:0005782]; peroxisome [GO:0005777]; carboxylic acid binding [GO:0031406]; fatty-acyl-CoA binding [GO:0000062]; hydroxymethylglutaryl-CoA lyase activity [GO:0004419]; magnesium ion binding [GO:0000287]; manganese ion binding [GO:0030145]; metal ion binding [GO:0046872]; protein homodimerization activity [GO:0042803]; signaling receptor binding [GO:0005102]; acyl-CoA metabolic process [GO:0006637]; ketone body biosynthetic process [GO:0046951]; leucine catabolic process [GO:0006552]; lipid metabolic process [GO:0006629]; liver development [GO:0001889]; mitochondrion organization [GO:0007005]; protein targeting to peroxisome [GO:0006625]; protein tetramerization [GO:0051262]; response to fatty acid [GO:0070542]; response to nutrient [GO:0007584]; response to starvation [GO:0042594]

snps:
rs121964997 rs1467902610 rs121964996 rs1357942068 rs199587895 rs765475941 rs760106433 rs727503963 rs121964998 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=P35914-1; Sequence=Displayed; Name=2; Synonyms=HMGCS2delta5,6; IsoId=P35914-2; Sequence=VSP_047444; Note=The transcript is not translated, but would result in a catalytically impaired product if it was.; Name=3; Synonyms=HMGCS2delta5,6,7; IsoId=P35914-3; Sequence=VSP_047444, VSP_043788; Note=Very low expression. The transcript is not translated, but would result in a catalytically inactive product if it was.; 


uniprotID: Q96MG2
geneSymbol: JSRP1
length: 331
go: ENSG00000167476;
snps: rs10426549 rs74521370 rs80043033 rs35356610
name:
Junctional sarcoplasmic reticulum protein 1 (Junctional-face membrane protein of 45 kDa homolog) (JP-45)

sequence:

opentargets:
sarcoplasmic reticulum [GO:0016529]; sarcoplasmic reticulum membrane [GO:0033017]; regulation of ryanodine-sensitive calcium-release channel activity [GO:0060314]; skeletal muscle contraction [GO:0003009]

location:
SUBCELLULAR LOCATION: Sarcoplasmic reticulum membrane {ECO:0000250}. Endoplasmic reticulum membrane {ECO:0000250}. Note=Colocalizes with ryanodine receptors at the sarcoplasmic reticulum triad membranes. {ECO:0000250}.


uniprotID: Q8IWL3
geneSymbol: HSCB
reactome: R-HSA-1268020;R-HSA-1362409;
pdb: 3BVO;
length: 235
go: ENSG00000100209;
snps: rs17886090 rs17884212
name:
Iron-sulfur cluster co-chaperone protein HscB, mitochondrial (DnaJ homolog subfamily C member 20) (Hsc20)

sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; mitochondrion [GO:0005739]; nucleus [GO:0005634]; ATPase activator activity [GO:0001671]; chaperone binding [GO:0051087]; identical protein binding [GO:0042802]; metal ion binding [GO:0046872]; [2Fe-2S] cluster assembly [GO:0044571]; iron-sulfur cluster assembly [GO:0016226]; protein complex oligomerization [GO:0051259]; protein maturation by iron-sulfur cluster transfer [GO:0097428]

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:20668094}. Mitochondrion {ECO:0000269|PubMed:20668094}.


uniprotID: Q9UBD0
geneSymbol: HSFX1; HSFX2
name: Heat shock transcription factor, X-linked
length: 423
go: ENSG00000171116;
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000305}. Cytoplasm {ECO:0000269|PubMed:15044259}.
sequence:

opentargets:
cytoplasm [GO:0005737]; nucleus [GO:0005634]; DNA-binding transcription factor activity [GO:0003700]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; RNA polymerase II proximal promoter sequence-specific DNA binding [GO:0000978]; sequence-specific DNA binding [GO:0043565]; cellular response to heat [GO:0034605]; positive regulation of transcription from RNA polymerase II promoter in response to heat stress [GO:0061408]


uniprotID: P11142
geneSymbol: HSPA8
length: 646
go: ENSG00000109971;
snps: rs11551602 rs11551598
reactome:
R-HSA-3371453;R-HSA-3371497;R-HSA-3371568;R-HSA-3371571;R-HSA-432720;R-HSA-432722;R-HSA-447041;R-HSA-450408;R-HSA-6785807;R-HSA-6798695;R-HSA-72163;R-HSA-8856828;R-HSA-8876725;R-HSA-888590;

pdb:
3AGY;3AGZ;3ESK;3FZF;3FZH;3FZK;3FZL;3FZM;3LDQ;3M3Z;4H5N;4H5R;4H5T;4H5V;4H5W;4HWI;4KBQ;5AQF;5AQG;5AQH;5AQI;5AQJ;5AQK;5AQL;5AQM;5AQN;5AQO;5AQP;5AQQ;5AQR;5AQS;5AQT;5AQU;5AQV;6B1I;6B1M;6B1N;

name:
Heat shock cognate 71 kDa protein (Heat shock 70 kDa protein 8) (Lipopolysaccharide-associated protein 1) (LAP-1) (LPS-associated protein 1)

sequence:

opentargets:
autophagosome [GO:0005776]; axon [GO:0030424]; blood microparticle [GO:0072562]; chaperone complex [GO:0101031]; clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane [GO:0061202]; cytoplasm [GO:0005737]; cytosol [GO:0005829]; dendrite [GO:0030425]; extracellular exosome [GO:0070062]; extracellular region [GO:0005576]; extracellular space [GO:0005615]; ficolin-1-rich granule lumen [GO:1904813]; focal adhesion [GO:0005925]; glutamatergic synapse [GO:0098978]; glycinergic synapse [GO:0098690]; intracellular [GO:0005622]; late endosome [GO:0005770]; lumenal side of lysosomal membrane [GO:0098575]; lysosomal lumen [GO:0043202]; lysosomal membrane [GO:0005765]; lysosome [GO:0005764]; melanosome [GO:0042470]; membrane [GO:0016020]; myelin sheath [GO:0043209]; nucleolus [GO:0005730]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; perinuclear region of cytoplasm [GO:0048471]; photoreceptor ribbon synapse [GO:0098684]; plasma membrane [GO:0005886]; postsynaptic cytosol [GO:0099524]; postsynaptic specialization membrane [GO:0099634]; presynaptic cytosol [GO:0099523]; Prp19 complex [GO:0000974]; ribonucleoprotein complex [GO:1990904]; secretory granule lumen [GO:0034774]; spliceosomal complex [GO:0005681]; terminal bouton [GO:0043195]; ATP binding [GO:0005524]; ATPase activity [GO:0016887]; ATPase activity, coupled [GO:0042623]; C3HC4-type RING finger domain binding [GO:0055131]; cadherin binding [GO:0045296]; chaperone binding [GO:0051087]; clathrin-uncoating ATPase activity [GO:1990833]; enzyme binding [GO:0019899]; G protein-coupled receptor binding [GO:0001664]; heat shock protein binding [GO:0031072]; MHC class II protein complex binding [GO:0023026]; misfolded protein binding [GO:0051787]; phosphatidylserine binding [GO:0001786]; protein binding involved in protein folding [GO:0044183]; protein binding, bridging [GO:0030674]; RNA binding [GO:0003723]; ubiquitin protein ligase binding [GO:0031625]; unfolded protein binding [GO:0051082]; ATP metabolic process [GO:0046034]; axo-dendritic transport [GO:0008088]; cellular response to heat [GO:0034605]; cellular response to starvation [GO:0009267]; cellular response to unfolded protein [GO:0034620]; chaperone cofactor-dependent protein refolding [GO:0051085]; chaperone-mediated autophagy [GO:0061684]; chaperone-mediated autophagy translocation complex disassembly [GO:1904764]; chaperone-mediated protein transport involved in chaperone-mediated autophagy [GO:0061741]; cytokine-mediated signaling pathway [GO:0019221]; late endosomal microautophagy [GO:0061738]; membrane organization [GO:0061024]; mRNA splicing, via spliceosome [GO:0000398]; negative regulation of supramolecular fiber organization [GO:1902904]; negative regulation of transcription, DNA-templated [GO:0045892]; neutrophil degranulation [GO:0043312]; positive regulation by host of viral genome replication [GO:0044829]; positive regulation of mRNA splicing, via spliceosome [GO:0048026]; protein folding [GO:0006457]; protein refolding [GO:0042026]; protein targeting to lysosome involved in chaperone-mediated autophagy [GO:0061740]; regulation of cell cycle [GO:0051726]; regulation of cellular response to heat [GO:1900034]; regulation of mRNA stability [GO:0043488]; regulation of postsynapse organization [GO:0099175]; regulation of protein complex assembly [GO:0043254]; regulation of protein complex stability [GO:0061635]; regulation of protein import [GO:1904589]; regulation of protein stability [GO:0031647]; response to unfolded protein [GO:0006986]; slow axonal transport [GO:1990832]; vesicle-mediated transport [GO:0016192]; viral process [GO:0016032]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P11142-1; Sequence=Displayed; Name=2; Synonyms=HSC54; IsoId=P11142-2; Sequence=VSP_002427; 

location:
SUBCELLULAR LOCATION: Cytoplasm. Melanosome. Nucleus, nucleolus. Cell membrane. Note=Localized in cytoplasmic mRNP granules containing untranslated mRNAs. Translocates rapidly from the cytoplasm to the nuclei, and especially to the nucleoli, upon heat shock.


uniprotID: P04035
geneSymbol: HMGCR
reactome: R-HSA-191273;R-HSA-1989781;R-HSA-2426168;
name: 3-hydroxy-3-methylglutaryl-coenzyme A reductase (HMG-CoA reductase) (EC 1.1.1.34)
length: 888
go: ENSG00000113161;
snps: rs5908
location: SUBCELLULAR LOCATION: Endoplasmic reticulum membrane; Multi-pass membrane protein.
pdb:
1DQ8;1DQ9;1DQA;1HW8;1HW9;1HWI;1HWJ;1HWK;1HWL;2Q1L;2Q6B;2Q6C;2R4F;3BGL;3CCT;3CCW;3CCZ;3CD0;3CD5;3CD7;3CDA;3CDB;

sequence:

opentargets:
endoplasmic reticulum [GO:0005783]; endoplasmic reticulum membrane [GO:0005789]; integral component of membrane [GO:0016021]; peroxisomal membrane [GO:0005778]; coenzyme binding [GO:0050662]; hydroxymethylglutaryl-CoA reductase (NADPH) activity [GO:0004420]; hydroxymethylglutaryl-CoA reductase activity [GO:0042282]; NADPH binding [GO:0070402]; protein homodimerization activity [GO:0042803]; protein phosphatase 2A binding [GO:0051721]; aging [GO:0007568]; cholesterol biosynthetic process [GO:0006695]; coenzyme A metabolic process [GO:0015936]; isoprenoid biosynthetic process [GO:0008299]; myoblast differentiation [GO:0045445]; negative regulation of blood vessel diameter [GO:0097756]; negative regulation of insulin secretion involved in cellular response to glucose stimulus [GO:0061179]; negative regulation of MAP kinase activity [GO:0043407]; negative regulation of striated muscle cell apoptotic process [GO:0010664]; negative regulation of wound healing [GO:0061045]; positive regulation of cardiac muscle cell apoptotic process [GO:0010666]; positive regulation of ERK1 and ERK2 cascade [GO:0070374]; positive regulation of skeletal muscle tissue development [GO:0048643]; positive regulation of smooth muscle cell proliferation [GO:0048661]; positive regulation of stress-activated MAPK cascade [GO:0032874]; protein tetramerization [GO:0051262]; regulation of cholesterol biosynthetic process [GO:0045540]; regulation of lipid metabolic process [GO:0019216]; response to ethanol [GO:0045471]; response to nutrient [GO:0007584]; sterol biosynthetic process [GO:0016126]; ubiquinone metabolic process [GO:0006743]; visual learning [GO:0008542]

drug:
DB03169;DB03461;DB04377;DB01076;DB00439;DB01992;DB01095;DB00227;DB06693;DB00157;DB08860;DB00175;DB01098;DB00641;DB05342;DB05317;

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=P04035-1; Sequence=Displayed; Name=2; IsoId=P04035-2; Sequence=VSP_002207; Note=No experimental confirmation available.; Name=3; Synonyms=HMGCR-1b; IsoId=P04035-3; Sequence=VSP_046492; Note=Most highly expressed transcript in skin, esophagus, and uterine cervix.; 


uniprotID: O00479
geneSymbol: HMGN4
sequence: MPKRKAKGDAKGDKAKVKDEPQRRSARLSAKPAPPKPEPRPKKASAKKGEKLPKGRKGKADAGKDGNNPAKNRDASTLQSQKAEGTGDAK
length: 90
go: ENSG00000182952;
opentargets: chromatin [GO:0000785]; nucleus [GO:0005634]; nucleosomal DNA binding [GO:0031492]
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000250}.
name:
High mobility group nucleosome-binding domain-containing protein 4 (Non-histone chromosomal protein HMG-17-like 3) (Non-histone chromosomal protein)


uniprotID: Q9UGU5
geneSymbol: HMGXB4
length: 601
go: ENSG00000100281;
snps: rs1053593
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000255|PROSITE-ProRule:PRU00267}.
name:
HMG domain-containing protein 4 (HMG box-containing protein 4) (High mobility group protein 2-like 1) (Protein HMGBCG)

sequence:

opentargets:
NURF complex [GO:0016589]; DNA binding [GO:0003677]; endosome to lysosome transport [GO:0008333]; negative regulation of Wnt signaling pathway [GO:0030178]; Wnt signaling pathway [GO:0016055]


uniprotID: B7ZW38
geneSymbol: HNRNPCL3
name: Heterogeneous nuclear ribonucleoprotein C-like 3
length: 293
go: ENSG00000277058;
opentargets: nucleus [GO:0005634]; RNA binding [GO:0003723]
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000250|UniProtKB:P07910}.
sequence:


uniprotID: A8MTL9
geneSymbol: HMSD
length: 139
go: ENSG00000221887;
location: SUBCELLULAR LOCATION: Secreted {ECO:0000305}.
name:
Serpin-like protein HMSD (Minor histocompatibility protein HMSD) (Minor histocompatibility serpin domain-containing protein)

sequence:
MSISSALAMVFMGAKGNTAAQMSQALCFSKIGGEDGDIHRGFQSLLVAINRTDTEYVLRTANGLFGEKSYDFLTGFTDSCGKFYQATIKQLDFVNDTEKSTTRVNSWVADKTKGENILLFYFDNILNSFIVSSLQNCQI

opentargets:
extracellular space [GO:0005615]; serine-type endopeptidase inhibitor activity [GO:0004867]; activation of immune response [GO:0002253]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; Synonyms=HMSD; IsoId=A8MTL9-1; Sequence=Displayed; Name=2; Synonyms=HMSD-v; IsoId=P0C7T4-1; Sequence=External; Note=This alternative splicing event arises as a consequence of an intronic polymorphism.; 


uniprotID: Q9BPY8
geneSymbol: HOPX
sequence: MSAETASGPTEDQVEILEYNFNKVDKHPDSTTLCLIAAEAGLSEEETQKWFKQRLAKWRRSEGLPSECRSVTD
length: 73
go: ENSG00000171476;
name:
Homeodomain-only protein (Lung cancer-associated Y protein) (Not expressed in choriocarcinoma protein 1) (Odd homeobox protein 1)

opentargets:
cytoplasm [GO:0005737]; nucleus [GO:0005634]; DNA binding [GO:0003677]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; chaperone-mediated protein complex assembly [GO:0051131]; negative regulation of cell differentiation [GO:0045596]; trophectodermal cell differentiation [GO:0001829]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; Synonyms=A; IsoId=Q9BPY8-1; Sequence=Displayed; Name=2; Synonyms=B; IsoId=Q9BPY8-2; Sequence=VSP_012659; Name=3; IsoId=Q9BPY8-3; Sequence=VSP_047290; Note=Gene prediction based on EST data.; Name=4; IsoId=Q9BPY8-4; Sequence=VSP_047290, VSP_012659; Note=Gene prediction based on EST data.; 

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000250|UniProtKB:Q8R1H0}. Cytoplasm {ECO:0000250|UniProtKB:Q8R1H0}.


uniprotID: O15347
geneSymbol: HMGB3
pdb: 2EQZ;2YQI;
length: 200
go: ENSG00000029993;
snps: rs16995792
name:
High mobility group protein B3 (High mobility group protein 2a) (HMG-2a) (High mobility group protein 4) (HMG-4)

sequence:

opentargets:
cytoplasm [GO:0005737]; nuclear chromatin [GO:0000790]; DNA binding, bending [GO:0008301]; double-stranded DNA binding [GO:0003690]; four-way junction DNA binding [GO:0000400]; RNA binding [GO:0003723]; transcription factor binding [GO:0008134]; chromatin remodeling [GO:0006338]; DNA geometric change [GO:0032392]; DNA recombination [GO:0006310]; innate immune response [GO:0045087]; multicellular organism development [GO:0007275]; positive regulation of innate immune response [GO:0045089]; positive regulation of transcription by RNA polymerase II [GO:0045944]; regulation of transcription by RNA polymerase II [GO:0006357]

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000250|UniProtKB:P40618, ECO:0000255|PROSITE-ProRule:PRU00267}. Chromosome {ECO:0000305}. Cytoplasm {ECO:0000250|UniProtKB:O54879}.


uniprotID: O97980
geneSymbol: HMHB1
sequence: MEEQPECREEKRGSLHVWKSELVEVEDDVYLRHSSSLTYRL
length: 41
go: ENSG00000158497;
snps: rs161557
name:
Minor histocompatibility protein HB-1 [Cleaved into: Minor histocompatibility antigen HB-1 (mHag HB-1)]

opentargets:
adaptive immune response [GO:0002250]; cellular response to tumor necrosis factor [GO:0071356]; positive regulation of interferon-gamma secretion [GO:1902715]; regulation of cytolysis [GO:0042268]; regulation of gene expression [GO:0010468]


uniprotID: A6NHT5
geneSymbol: HMX3
name: Homeobox protein HMX3 (Homeobox protein H6 family member 3) (Homeobox protein Nkx-5.1)
length: 357
go: ENSG00000188620;
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000255|PROSITE-ProRule:PRU00108}.
sequence:

opentargets:
nucleus [GO:0005634]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; RNA polymerase II regulatory region sequence-specific DNA binding [GO:0000977]; brain development [GO:0007420]; cell differentiation [GO:0030154]; embryo implantation [GO:0007566]; inner ear morphogenesis [GO:0042472]; maternal process involved in female pregnancy [GO:0060135]; neuromuscular process controlling balance [GO:0050885]


uniprotID: Q8N7B1
geneSymbol: HORMAD2
name: HORMA domain-containing protein 2
length: 307
go: ENSG00000176635;
snps: rs34150968 rs34305723
sequence:

opentargets:
chromosome [GO:0005694]; nucleus [GO:0005634]; synaptonemal complex [GO:0000795]; meiotic cell cycle [GO:0051321]; meiotic sister chromatid cohesion [GO:0051177]

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:22893617}. Chromosome {ECO:0000250}. Note=Preferentially localizes to unsynapsed or desynapsed chromosomal regions during the male and female prophase I stage of meiosis. TRIP13 is required for depletion from synapsed chromosomes (By similarity). {ECO:0000250}.


uniprotID: Q96QI5
geneSymbol: HS3ST6
reactome: R-HSA-2022928;
length: 342
go: ENSG00000162040;
name:
Heparan sulfate glucosamine 3-O-sulfotransferase 6 (EC 2.8.2.23) (Heparan sulfate D-glucosaminyl 3-O-sulfotransferase 6) (3-OST-6) (Heparan sulfate 3-O-sulfotransferase 6) (h3-OST-6)

sequence:

opentargets:
Golgi membrane [GO:0000139]; integral component of membrane [GO:0016021]; [heparan sulfate]-glucosamine 3-sulfotransferase 1 activity [GO:0008467]; blastocyst hatching [GO:0001835]; glycosaminoglycan biosynthetic process [GO:0006024]


uniprotID: P52272
geneSymbol: HNRNPM
reactome: R-HSA-6803529;R-HSA-72163;R-HSA-72203;
pdb: 2DGV;2DH9;2DO0;2OT8;
name: Heterogeneous nuclear ribonucleoprotein M (hnRNP M)
length: 730
go: ENSG00000099783;
location: SUBCELLULAR LOCATION: Nucleus, nucleolus {ECO:0000269|Ref.5}.
sequence:

opentargets:
catalytic step 2 spliceosome [GO:0071013]; collagen-containing extracellular matrix [GO:0062023]; cytoplasm [GO:0005737]; extracellular exosome [GO:0070062]; membrane [GO:0016020]; nuclear matrix [GO:0016363]; nucleolus [GO:0005730]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; paraspeckles [GO:0042382]; post-mRNA release spliceosomal complex [GO:0071014]; ribonucleoprotein complex [GO:1990904]; spliceosomal complex [GO:0005681]; mRNA binding [GO:0003729]; protein domain specific binding [GO:0019904]; RNA binding [GO:0003723]; alternative mRNA splicing, via spliceosome [GO:0000380]; fibroblast growth factor receptor signaling pathway [GO:0008543]; mRNA splicing, via spliceosome [GO:0000398]; regulation of mRNA stability involved in response to oxidative stress [GO:2000815]; RNA metabolic process [GO:0016070]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Comment=Experimental confirmation may be lacking for some isoforms.; Name=1; Synonyms=M4; IsoId=P52272-1; Sequence=Displayed; Name=2; Synonyms=M1-M2; IsoId=P52272-2; Sequence=VSP_005845; Name=3; Synonyms=M3; IsoId=P52272-3; Sequence=Not described; 


uniprotID: P48723
geneSymbol: HSPA13
reactome: R-HSA-3371453;
length: 471
go: ENSG00000155304;
location: SUBCELLULAR LOCATION: Microsome. Endoplasmic reticulum.
name:
Heat shock 70 kDa protein 13 (Microsomal stress-70 protein ATPase core) (Stress-70 protein chaperone microsome-associated 60 kDa protein)

sequence:

opentargets:
cytoplasm [GO:0005737]; endoplasmic reticulum chaperone complex [GO:0034663]; endoplasmic reticulum lumen [GO:0005788]; extracellular exosome [GO:0070062]; intracellular membrane-bounded organelle [GO:0043231]; membrane [GO:0016020]; nucleus [GO:0005634]; ATP binding [GO:0005524]; ATPase activity [GO:0016887]; ATPase activity, coupled [GO:0042623]; heat shock protein binding [GO:0031072]; misfolded protein binding [GO:0051787]; protein binding involved in protein folding [GO:0044183]; unfolded protein binding [GO:0051082]; cellular response to heat [GO:0034605]; cellular response to unfolded protein [GO:0034620]; chaperone cofactor-dependent protein refolding [GO:0051085]; endoplasmic reticulum unfolded protein response [GO:0030968]; protein refolding [GO:0042026]; response to unfolded protein [GO:0006986]; ubiquitin-dependent ERAD pathway [GO:0030433]


uniprotID: O76095
geneSymbol: JTB
pdb: 2KJX;
length: 146
go: ENSG00000143543;
snps: rs34686244
name:
Protein JTB (Jumping translocation breakpoint protein) (Prostate androgen-regulated protein) (PAR protein)

sequence:
MLAGAGRPGLPQGRHLCWLLCAFTLKLCQAEAPVQEEKLSASTSNLPCWLVEEFVVAEECSPCSNFRAKTTPECGPTGYVEKITCSSSKRNEFKSCRSALMEQRLFWKFEGAVVCVALIFACLVIIRQRQLDRKALEKVRKQIESI

opentargets:
cytoplasm [GO:0005737]; integral component of plasma membrane [GO:0005887]; membrane [GO:0016020]; microtubule organizing center [GO:0005815]; midbody [GO:0030496]; mitochondrion [GO:0005739]; spindle [GO:0005819]; protein kinase binding [GO:0019901]; apoptotic process [GO:0006915]; mitotic cell cycle [GO:0000278]; mitotic cytokinesis [GO:0000281]; positive regulation of protein kinase activity [GO:0045860]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=O76095-1; Sequence=Displayed; Name=2; IsoId=O76095-2; Sequence=VSP_041400; 

location:
SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Single-pass type I membrane protein {ECO:0000305}. Mitochondrion {ECO:0000250}. Cytoplasm. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome. Cytoplasm, cytoskeleton, spindle. Note=Detected at the centrosome and along spindle fibers during prophase and metaphase. Detected at the midbody during telophase.


uniprotID: Q9BYM8
geneSymbol: RBCK1
reactome: R-HSA-5357905;R-HSA-5357956;R-HSA-983168;
pdb: 2CRC;2LGY;4DBG;
length: 510
go: ENSG00000125826;
snps: rs566912235
name:
RanBP-type and C3HC4-type zinc finger-containing protein 1 (EC 2.3.2.31) (HBV-associated factor 4) (Heme-oxidized IRP2 ubiquitin ligase 1) (HOIL-1) (Hepatitis B virus X-associated protein 4) (RING finger protein 54) (RING-type E3 ubiquitin transferase HOIL-1) (Ubiquitin-conjugating enzyme 7-interacting protein 3)

sequence:

opentargets:
cytosol [GO:0005829]; LUBAC complex [GO:0071797]; metal ion binding [GO:0046872]; ubiquitin binding [GO:0043130]; ubiquitin-protein transferase activity [GO:0004842]; I-kappaB kinase/NF-kappaB signaling [GO:0007249]; negative regulation of necroptotic process [GO:0060546]; negative regulation of NF-kappaB transcription factor activity [GO:0032088]; positive regulation of extrinsic apoptotic signaling pathway [GO:2001238]; positive regulation of I-kappaB kinase/NF-kappaB signaling [GO:0043123]; positive regulation of NF-kappaB transcription factor activity [GO:0051092]; positive regulation of NIK/NF-kappaB signaling [GO:1901224]; proteasome-mediated ubiquitin-dependent protein catabolic process [GO:0043161]; protein linear polyubiquitination [GO:0097039]; protein polyubiquitination [GO:0000209]; regulation of transcription, DNA-templated [GO:0006355]; regulation of tumor necrosis factor-mediated signaling pathway [GO:0010803]; T cell receptor signaling pathway [GO:0050852]; viral process [GO:0016032]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Comment=Experimental confirmation may be lacking for some isoforms.; Name=1; Synonyms=HOIL-1L; IsoId=Q9BYM8-1; Sequence=Displayed; Name=2; IsoId=Q9BYM8-3; Sequence=VSP_005766; Name=3; IsoId=Q9BYM8-4; Sequence=VSP_005766, VSP_005767, VSP_005768; Note=May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.; 


uniprotID: Q58FG1
geneSymbol: HSP90AA4P
length: 418
location: SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250}.
name:
Putative heat shock protein HSP 90-alpha A4 (Heat shock 90 kDa protein 1 alpha-like 2) (Heat shock protein 90-alpha D) (Heat shock protein 90Ad)

sequence:

opentargets:
cytoplasm [GO:0005737]; ATP binding [GO:0005524]; unfolded protein binding [GO:0051082]; protein folding [GO:0006457]


uniprotID: Q12766
geneSymbol: HMGXB3
name: HMG domain-containing protein 3 (HMG box-containing protein 3) (Protein SMF)
length: 1538
go: ENSG00000113716;
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000255|PROSITE-ProRule:PRU00267}.
sequence:

opentargets:
nucleus [GO:0005634]; DNA binding [GO:0003677]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; kinase activity [GO:0016301]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q12766-1; Sequence=Displayed; Name=2; IsoId=Q12766-2; Sequence=VSP_047337; Note=No experimental confirmation available.; 


uniprotID: P17096
geneSymbol: HMGA1
reactome: R-HSA-162592;R-HSA-164843;R-HSA-175567;R-HSA-177539;R-HSA-180689;R-HSA-180910;R-HSA-2559584;
pdb: 2EZD;2EZE;2EZF;2EZG;
length: 107
go: ENSG00000137309;
location: SUBCELLULAR LOCATION: Nucleus. Chromosome.
name:
High mobility group protein HMG-I/HMG-Y (HMG-I(Y)) (High mobility group AT-hook protein 1) (High mobility group protein A1) (High mobility group protein R)

sequence:
MSESSSKSSQPLASKQEKDGTEKRGRGRPRKQPPVSPGTALVGSQKEPSEVPTPKRPRGRPKGSKNKGAAKTRKTTTTPGRKPRGRPKKLEKEEEEGISQESSEEEQ

opentargets:
cytosol [GO:0005829]; focal adhesion [GO:0005925]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; RNA polymerase II transcription factor complex [GO:0090575]; senescence-associated heterochromatin focus [GO:0035985]; transcription factor complex [GO:0005667]; 5'-deoxyribose-5-phosphate lyase activity [GO:0051575]; AT DNA binding [GO:0003680]; chromatin binding [GO:0003682]; distal enhancer DNA-binding transcription activator activity, RNA polymerase II-specific [GO:0001205]; DNA binding [GO:0003677]; DNA-(apurinic or apyrimidinic site) endonuclease activity [GO:0003906]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; enhancer sequence-specific DNA binding [GO:0001158]; enzyme binding [GO:0019899]; nuclear receptor transcription coactivator activity [GO:0030374]; peroxisome proliferator activated receptor binding [GO:0042975]; retinoic acid receptor binding [GO:0042974]; retinoid X receptor binding [GO:0046965]; transcription factor binding [GO:0008134]; base-excision repair [GO:0006284]; DNA unwinding involved in DNA replication [GO:0006268]; establishment of integrated proviral latency [GO:0075713]; negative regulation of cell proliferation [GO:0008285]; negative regulation of chromatin silencing [GO:0031936]; negative regulation of transcription, DNA-templated [GO:0045892]; nuclear transport [GO:0051169]; nucleosome disassembly [GO:0006337]; oncogene-induced cell senescence [GO:0090402]; positive regulation of cellular senescence [GO:2000774]; positive regulation of transcription by RNA polymerase II [GO:0045944]; positive regulation of transcription, DNA-templated [GO:0045893]; protein-containing complex assembly [GO:0065003]; regulation of transcription, DNA-templated [GO:0006355]; response to virus [GO:0009615]; senescence-associated heterochromatin focus assembly [GO:0035986]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=HMG-I; Synonyms=HMGA1a; IsoId=P17096-1; Sequence=Displayed; Name=HMG-Y; Synonyms=HMGA1b; IsoId=P17096-2; Sequence=VSP_002182; Name=HMG-R; Synonyms=HMGA1c; IsoId=P17096-3; Sequence=VSP_018084; 


uniprotID: Q86YM7
geneSymbol: HOMER1
reactome: R-HSA-6794361;
name: Homer protein homolog 1 (Homer-1)
length: 354
go: ENSG00000152413;
sequence:

opentargets:
apical part of cell [GO:0045177]; axon [GO:0030424]; cell junction [GO:0030054]; costamere [GO:0043034]; cytoplasm [GO:0005737]; cytosol [GO:0005829]; dendrite [GO:0030425]; dendritic spine [GO:0043197]; glutamatergic synapse [GO:0098978]; neuron projection [GO:0043005]; neuron spine [GO:0044309]; plasma membrane [GO:0005886]; postsynaptic cytosol [GO:0099524]; postsynaptic density [GO:0014069]; postsynaptic membrane [GO:0045211]; Z disc [GO:0030018]; G protein-coupled glutamate receptor binding [GO:0035256]; ion channel binding [GO:0044325]; signaling adaptor activity [GO:0035591]; behavioral response to cocaine [GO:0048148]; chemical homeostasis within a tissue [GO:0048875]; chemical synaptic transmission [GO:0007268]; G protein-coupled glutamate receptor signaling pathway [GO:0007216]; phospholipase C-activating G protein-coupled glutamate receptor signaling pathway [GO:0007206]; positive regulation of calcium ion transport [GO:0051928]; positive regulation of signal transduction [GO:0009967]; protein tetramerization [GO:0051262]; regulation of calcium ion import [GO:0090279]; regulation of cation channel activity [GO:2001257]; regulation of dendritic spine maintenance [GO:1902950]; regulation of postsynaptic neurotransmitter receptor activity [GO:0098962]; regulation of store-operated calcium entry [GO:2001256]; regulation of synaptic transmission, glutamatergic [GO:0051966]; response to calcium ion [GO:0051592]; skeletal muscle contraction [GO:0003009]; skeletal muscle fiber development [GO:0048741]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; Synonyms=1b; IsoId=Q86YM7-1; Sequence=Displayed; Name=2; Synonyms=1e; IsoId=Q86YM7-2; Sequence=VSP_009057; Name=3; Synonyms=1h; IsoId=Q86YM7-3; Sequence=VSP_009058, VSP_009059; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250}. Cell junction, synapse, postsynaptic cell membrane, postsynaptic density {ECO:0000250}. Cell junction, synapse {ECO:0000250}. Cell projection, dendritic spine {ECO:0000250|UniProtKB:Q9Z214}. Note=Isoform 1 inhibits surface expression of GRM5 causing it to be retained in the endoplasmic reticulum. {ECO:0000250}.


uniprotID: A8MWY0
geneSymbol: KIAA1324L
name: UPF0577 protein KIAA1324-like (Estrogen-induced gene 121-like protein) (hEIG121L)
length: 1029
go: ENSG00000164659;
opentargets: integral component of membrane [GO:0016021]
snps: rs1029366 rs34412146 rs34577440
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Single-pass type I membrane protein {ECO:0000305}.
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=A8MWY0-1; Sequence=Displayed; Name=2; IsoId=A8MWY0-2; Sequence=VSP_033529, VSP_033530; Note=No experimental confirmation available.; Name=3; IsoId=A8MWY0-3; Sequence=VSP_043254, VSP_043255; Note=No experimental confirmation available.; 


uniprotID: Q8IYS2
geneSymbol: KIAA2013
name: Uncharacterized protein KIAA2013
length: 634
go: ENSG00000116685;
opentargets: integral component of membrane [GO:0016021]; membrane [GO:0016020]
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=Q8IYS2-1; Sequence=Displayed; Name=2; IsoId=Q8IYS2-2; Sequence=VSP_026487; 


uniprotID: O43526
geneSymbol: KCNQ2
reactome: R-HSA-1296072;R-HSA-445095;
pdb: 5J03;6FEG;6FEH;
length: 872
go: ENSG00000075043;
drug: DB00321;DB00586;DB04953;DB06089;DB00939;
name:
Potassium voltage-gated channel subfamily KQT member 2 (KQT-like 2) (Neuroblastoma-specific potassium channel subunit alpha KvLQT2) (Voltage-gated potassium channel subunit Kv7.2)

sequence:

opentargets:
axon initial segment [GO:0043194]; integral component of membrane [GO:0016021]; integral component of plasma membrane [GO:0005887]; node of Ranvier [GO:0033268]; plasma membrane [GO:0005886]; voltage-gated potassium channel complex [GO:0008076]; ankyrin binding [GO:0030506]; calmodulin binding [GO:0005516]; delayed rectifier potassium channel activity [GO:0005251]; voltage-gated potassium channel activity [GO:0005249]; chemical synaptic transmission [GO:0007268]; nervous system development [GO:0007399]; potassium ion transmembrane transport [GO:0071805]; regulation of ion transmembrane transport [GO:0034765]

snps:
rs1057516076 rs1057516078 rs1057516081 rs1057516080 rs118192199 rs796052623 rs118192200 rs74315391 rs118192201 rs796052626 rs397514581 rs118192203 rs28939684 rs1057516089 rs118192204 rs1057516091 rs118192205 rs74315392 rs1057519536 rs1057516094 rs1057516095 rs28939683 rs1057519535 rs118192211 rs1057516099 rs74315390 rs118192216 rs118192218 rs1057516110 rs796052650 rs267607198 rs796052665 rs1057516123 rs118192235 rs118192237 rs118192240 rs748400155 rs1801475 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=6;  Comment=Additional isoforms seem to exist.; Name=1; IsoId=O43526-1; Sequence=Displayed; Name=2; IsoId=O43526-2; Sequence=VSP_000988; Name=3; IsoId=O43526-3; Sequence=VSP_000985, VSP_000988; 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=O43526-4; Sequence=VSP_000989, VSP_000990; Name=5; IsoId=O43526-5; Sequence=VSP_000984, VSP_000988; Name=6; Synonyms=HNSPC; IsoId=O43526-6; Sequence=VSP_000986, VSP_000987; 

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:10788442, ECO:0000269|PubMed:9836639}; Multi-pass membrane protein {ECO:0000255}.


uniprotID: P29375
geneSymbol: KDM5A
reactome: R-HSA-3214842;
length: 1690
go: ENSG00000073614;
snps: rs11062385 rs2229353
pdb:
2JXJ;2KGG;2KGI;3GL6;5C11;5CEH;5E6H;5ISL;5IVB;5IVC;5IVE;5IVF;5IVJ;5IVV;5IVY;5IW0;5IWF;5K4L;5V9P;5V9T;6BGU;6BGV;6BGW;6BGX;6BGY;6BGZ;6BH0;6BH1;6BH2;6BH3;6BH4;6BH5;

name:
Lysine-specific demethylase 5A (EC 1.14.11.-) (Histone demethylase JARID1A) (Jumonji/ARID domain-containing protein 1A) (Retinoblastoma-binding protein 2) (RBBP-2)

sequence:

opentargets:
histone methyltransferase complex [GO:0035097]; nucleolus [GO:0005730]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; protein-DNA complex [GO:0032993]; chromatin binding [GO:0003682]; chromatin DNA binding [GO:0031490]; core promoter sequence-specific DNA binding [GO:0001046]; dioxygenase activity [GO:0051213]; DNA binding [GO:0003677]; DNA-binding transcription factor activity [GO:0003700]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; DNA-binding transcription repressor activity, RNA polymerase II-specific [GO:0001227]; histone binding [GO:0042393]; histone demethylase activity [GO:0032452]; histone demethylase activity (H3-dimethyl-K4 specific) [GO:0034648]; histone demethylase activity (H3-trimethyl-K4 specific) [GO:0034647]; methylated histone binding [GO:0035064]; transcription coactivator activity [GO:0003713]; zinc ion binding [GO:0008270]; circadian regulation of gene expression [GO:0032922]; histone H3-K4 demethylation [GO:0034720]; histone H3-K9 demethylation [GO:0033169]; male gonad development [GO:0008584]; negative regulation of histone deacetylase activity [GO:1901726]; positive regulation of transcription, DNA-templated [GO:0045893]; regulation of DNA-binding transcription factor activity [GO:0051090]; spermatogenesis [GO:0007283]; transcription by RNA polymerase II [GO:0006366]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P29375-1; Sequence=Displayed; Name=2; IsoId=P29375-2; Sequence=VSP_035746; 

location:
SUBCELLULAR LOCATION: Nucleus, nucleolus {ECO:0000269|PubMed:15949438, ECO:0000269|PubMed:7935440}. Nucleus {ECO:0000250|UniProtKB:Q3UXZ9}. Note=Occupies promoters of genes involved in RNA metabolism and mitochondrial function. {ECO:0000250|UniProtKB:Q3UXZ9}.


uniprotID: Q8TBB5
geneSymbol: KLHDC4
name: Kelch domain-containing protein 4
length: 520
go: ENSG00000104731;
snps: rs2303772 rs2303771 rs34779002 rs3751727
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q8TBB5-1; Sequence=Displayed; Name=2; IsoId=Q8TBB5-2; Sequence=VSP_017728; Note=No experimental confirmation available.; Name=3; IsoId=Q8TBB5-3; Sequence=VSP_017729; Note=No experimental confirmation available.; 


uniprotID: Q9H511
geneSymbol: KLHL31
length: 634
go: ENSG00000124743;
snps: rs6908377 rs3799260 rs3799261
name:
Kelch-like protein 31 (BTB and kelch domain-containing protein 6) (Kelch repeat and BTB domain-containing protein 1) (Kelch-like protein KLHL)

sequence:


uniprotID: O60256
geneSymbol: PRPSAP2
pdb: 2JI4;
length: 369
go: ENSG00000141127;
name:
Phosphoribosyl pyrophosphate synthase-associated protein 2 (PRPP synthase-associated protein 2) (41 kDa phosphoribosypyrophosphate synthetase-associated protein) (PAP41)

sequence:

opentargets:
cytoplasm [GO:0005737]; ribose phosphate diphosphokinase complex [GO:0002189]; enzyme inhibitor activity [GO:0004857]; enzyme regulator activity [GO:0030234]; magnesium ion binding [GO:0000287]; ribose phosphate diphosphokinase activity [GO:0004749]; 5-phosphoribose 1-diphosphate biosynthetic process [GO:0006015]; bone development [GO:0060348]; nucleobase-containing compound metabolic process [GO:0006139]; nucleoside metabolic process [GO:0009116]; nucleotide biosynthetic process [GO:0009165]; purine nucleotide biosynthetic process [GO:0006164]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=O60256-1; Sequence=Displayed; Name=2; IsoId=O60256-2; Sequence=VSP_044731; Note=No experimental confirmation available.; Name=3; IsoId=O60256-3; Sequence=VSP_046462; Note=No experimental confirmation available.; Name=4; IsoId=O60256-4; Sequence=VSP_054765; Note=No experimental confirmation available.; 


uniprotID: Q6PID8
geneSymbol: KLHDC10
name: Kelch domain-containing protein 10
length: 442
go: ENSG00000128607;
snps: rs3734928 rs17854337 rs17854336 rs17857292 rs10241894
sequence:

opentargets:
cytoplasm [GO:0005737]; nucleoplasm [GO:0005654]; positive regulation of stress-activated MAPK cascade [GO:0032874]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q6PID8-1; Sequence=Displayed; Name=2; IsoId=Q6PID8-2; Sequence=VSP_031484; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:23102700}. Cytoplasm {ECO:0000269|PubMed:23102700}.


uniprotID: Q8IZU9
geneSymbol: KIRREL3
reactome: R-HSA-373753;
pdb: 2CRY;
length: 778
go: ENSG00000149571;
snps: rs119462978 rs114378922 rs119462980
name:
Kin of IRRE-like protein 3 (Kin of irregular chiasm-like protein 3) (Nephrin-like protein 2) [Cleaved into: Processed kin of IRRE-like protein 3]

sequence:

opentargets:
axon [GO:0030424]; dendrite [GO:0030425]; dendritic shaft [GO:0043198]; extracellular region [GO:0005576]; integral component of membrane [GO:0016021]; plasma membrane [GO:0005886]; glomerulus morphogenesis [GO:0072102]; hemopoiesis [GO:0030097]; hippocampus development [GO:0021766]; homophilic cell adhesion via plasma membrane adhesion molecules [GO:0007156]; inter-male aggressive behavior [GO:0002121]; neuron migration [GO:0001764]; neuron projection morphogenesis [GO:0048812]; principal sensory nucleus of trigeminal nerve development [GO:0021740]; synapse assembly [GO:0007416]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; Synonyms=Kirrel3 A {ECO:0000303|PubMed:25488023}; IsoId=Q8IZU9-1; Sequence=Displayed; Name=2; Synonyms=Kirrel3 B {ECO:0000303|PubMed:25488023}; IsoId=Q8IZU9-2; Sequence=VSP_011799, VSP_011800; 

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:19012874}; Single-pass type I membrane protein {ECO:0000269|PubMed:19012874}.; SUBCELLULAR LOCATION: Processed kin of IRRE-like protein 3: Secreted {ECO:0000250|UniProtKB:Q8BR86}.


uniprotID: Q63HM1
geneSymbol: AFMID
reactome: R-HSA-71240;
length: 303
go: ENSG00000183077;
name:
Kynurenine formamidase (KFA) (KFase) (EC 3.5.1.9) (Arylformamidase) (N-formylkynurenine formamidase) (FKF)

sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; nucleus [GO:0005634]; arylformamidase activity [GO:0004061]; 'de novo' NAD biosynthetic process from tryptophan [GO:0034354]; tryptophan catabolic process to kynurenine [GO:0019441]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q63HM1-1; Sequence=Displayed; Name=2; IsoId=Q63HM1-2; Sequence=VSP_038002; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasm, cytosol {ECO:0000255|HAMAP-Rule:MF_03014}. Nucleus {ECO:0000255|HAMAP-Rule:MF_03014}. Note=Predominantly cytosolic. Some fraction is nuclear. {ECO:0000255|HAMAP-Rule:MF_03014}.


uniprotID: Q96AC6
geneSymbol: KIFC2
reactome: R-HSA-6811434;R-HSA-983189;
name: Kinesin-like protein KIFC2
length: 838
go: ENSG00000167702;
snps: rs35817880 rs12675537
location: SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton {ECO:0000305}.
sequence:

opentargets:
cytoplasm [GO:0005737]; 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=2;  Name=1; IsoId=Q96AC6-1; Sequence=Displayed; Name=2; IsoId=Q96AC6-2; Sequence=VSP_056102, VSP_056103, VSP_056104; Note=No experimental confirmation available.; 


uniprotID: Q9BQ90
geneSymbol: KLHDC3
reactome: R-HSA-381038;
name: Kelch domain-containing protein 3 (Protein Peas) (Testis intracellular mediator protein)
length: 382
go: ENSG00000124702;
location: SUBCELLULAR LOCATION: Cytoplasm. Note=Also found in meiotic chromatin. {ECO:0000250}.
sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; nuclear chromatin [GO:0000790]; nucleoplasm [GO:0005654]; chromatin binding [GO:0003682]; IRE1-mediated unfolded protein response [GO:0036498]; reciprocal meiotic recombination [GO:0007131]


uniprotID: Q6UVM3
geneSymbol: KCNT2
length: 1135
go: ENSG00000162687;
snps: rs12738104 rs12742082
name:
Potassium channel subfamily T member 2 (Sequence like an intermediate conductance potassium channel subunit) (Sodium and chloride-activated ATP-sensitive potassium channel Slo2.1)

sequence:

opentargets:
integral component of membrane [GO:0016021]; plasma membrane [GO:0005886]; ATP binding [GO:0005524]; chloride-activated potassium channel activity [GO:0070089]; intracellular sodium activated potassium channel activity [GO:0005228]; outward rectifier potassium channel activity [GO:0015271]; potassium ion export [GO:0071435]; regulation of membrane potential [GO:0042391]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=Q6UVM3-1; Sequence=Displayed; Name=2; IsoId=Q6UVM3-2; Sequence=VSP_029855; Name=3; IsoId=Q6UVM3-3; Sequence=VSP_029854, VSP_029855, VSP_029856; Name=4; IsoId=Q6UVM3-4; Sequence=VSP_029852, VSP_029853, VSP_029855, VSP_029856, VSP_029857; 

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:29069600}; Multi-pass membrane protein {ECO:0000255}.


uniprotID: Q96E93
geneSymbol: KLRG1
reactome: R-HSA-198933;
pdb: 3FF7;
length: 195
go: ENSG00000139187;
snps: rs1805749
name:
Killer cell lectin-like receptor subfamily G member 1 (C-type lectin domain family 15 member A) (ITIM-containing receptor MAFA-L) (MAFA-like receptor) (Mast cell function-associated antigen)

sequence:
MTDSVIYSMLELPTATQAQNDYGPQQKSSSSRPSCSCLVAIALGLLTAVLLSVLLYQWILCQGSNYSTCASCPSCPDRWMKYGNHCYYFSVEEKDWNSSLEFCLARDSHLLVITDNQEMSLLQVFLSEAFCWIGLRNNSGWRWEDGSPLNFSRISSNSFVQTCGAINKNGLQASSCEVPLHWVCKKCPFADQALF

opentargets:
integral component of membrane [GO:0016021]; intracellular membrane-bounded organelle [GO:0043231]; plasma membrane [GO:0005886]; carbohydrate binding [GO:0030246]; signaling receptor activity [GO:0038023]; cell surface receptor signaling pathway [GO:0007166]; cellular defense response [GO:0006968]; inflammatory response [GO:0006954]; innate immune response [GO:0045087]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q96E93-1; Sequence=Displayed; Name=2; IsoId=Q96E93-2; Sequence=VSP_033151; 

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:19604491}; Single-pass type II membrane protein {ECO:0000269|PubMed:19604491}.


uniprotID: Q8IXQ5
geneSymbol: KLHL7
pdb: 3II7;
name: Kelch-like protein 7
length: 586
go: ENSG00000122550;
snps: rs137853112 rs137853114 rs137853113 rs879255558 rs780705654 rs879255556 rs17147682
sequence:

opentargets:
Cul3-RING ubiquitin ligase complex [GO:0031463]; cytosol [GO:0005829]; nucleolus [GO:0005730]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; perinuclear region of cytoplasm [GO:0048471]; plasma membrane [GO:0005886]; identical protein binding [GO:0042802]; protein homodimerization activity [GO:0042803]; protein ubiquitination [GO:0016567]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=5;  Name=1; IsoId=Q8IXQ5-1; Sequence=Displayed; Name=2; IsoId=Q8IXQ5-2; Sequence=VSP_038416; Name=3; IsoId=Q8IXQ5-3; Sequence=VSP_038417, VSP_038418; Name=4; IsoId=Q8IXQ5-4; Sequence=VSP_038416, VSP_038417, VSP_038418; Name=5; IsoId=Q8IXQ5-5; Sequence=VSP_046974; 

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:16918702}. Cytoplasm {ECO:0000269|PubMed:27392078}. Note=Colocalizes with CUL3 in punctate structures at the perinuclear region of the cytoplasm. {ECO:0000269|PubMed:27392078}.


uniprotID: Q9UBS0
geneSymbol: RPS6KB2
reactome: R-HSA-198693;R-HSA-5674400;
length: 482
go: ENSG00000175634;
snps: rs55987642 rs55642995 rs13859 rs374535834
location: SUBCELLULAR LOCATION: Cytoplasm. Nucleus.
name:
Ribosomal protein S6 kinase beta-2 (S6K-beta-2) (S6K2) (EC 2.7.11.1) (70 kDa ribosomal protein S6 kinase 2) (P70S6K2) (p70-S6K 2) (S6 kinase-related kinase) (SRK) (Serine/threonine-protein kinase 14B) (p70 ribosomal S6 kinase beta) (S6K-beta) (p70 S6 kinase beta) (p70 S6K-beta) (p70 S6KB) (p70-beta)

sequence:

opentargets:
cytoplasm [GO:0005737]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; ATP binding [GO:0005524]; peptide binding [GO:0042277]; protein kinase activity [GO:0004672]; protein serine/threonine kinase activity [GO:0004674]; ribosomal protein S6 kinase activity [GO:0004711]; intracellular signal transduction [GO:0035556]; positive regulation of translational initiation [GO:0045948]; protein kinase B signaling [GO:0043491]; protein phosphorylation [GO:0006468]; signal transduction [GO:0007165]; translation [GO:0006412]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9UBS0-1; Sequence=Displayed; Name=2; IsoId=Q9UBS0-2; Sequence=VSP_056441, VSP_056442; Note=No experimental confirmation available.; 


uniprotID: Q9Y2M5
geneSymbol: KLHL20
reactome: R-HSA-8951664;R-HSA-983168;
pdb: 6GY5;
name: Kelch-like protein 20 (Kelch-like ECT2-interacting protein) (Kelch-like protein X)
length: 609
go: ENSG00000076321;
sequence:

opentargets:
actin cytoskeleton [GO:0015629]; axon [GO:0030424]; Cul3-RING ubiquitin ligase complex [GO:0031463]; cytoplasm [GO:0005737]; cytosol [GO:0005829]; dendrite [GO:0030425]; Golgi apparatus [GO:0005794]; perinuclear region of cytoplasm [GO:0048471]; PML body [GO:0016605]; trans-Golgi network [GO:0005802]; actin binding [GO:0003779]; interferon-gamma binding [GO:0019964]; ubiquitin-protein transferase activity [GO:0004842]; cytoskeleton organization [GO:0007010]; Golgi to endosome transport [GO:0006895]; negative regulation of apoptotic process [GO:0043066]; post-translational protein modification [GO:0043687]; proteasome-mediated ubiquitin-dependent protein catabolic process [GO:0043161]; protein K33-linked ubiquitination [GO:1990390]; protein transport [GO:0015031]; protein ubiquitination [GO:0016567]; response to interferon-alpha [GO:0035455]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9Y2M5-1; Sequence=Displayed; Name=2; IsoId=Q9Y2M5-2; Sequence=VSP_057026, VSP_057027; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasm, perinuclear region. Nucleus. Golgi apparatus, trans-Golgi network. Cell projection, axon {ECO:0000250}. Cell projection, dendrite {ECO:0000250}. Note=Localizes in the perinuclear region in normal conditions. Following IFN-alpha or IFN-gamma treatment, it is relocalized and sequestrated to the PML nuclear bodies, preventing DAPK1 ubiquitination (PubMed:20389280). {ECO:0000269|PubMed:20389280}.


uniprotID: Q9BYQ3
geneSymbol: KRTAP9-3
reactome: R-HSA-6805567;
length: 159
go: ENSG00000204873;
opentargets: cytosol [GO:0005829]; keratin filament [GO:0045095]; keratinization [GO:0031424]
name:
Keratin-associated protein 9-3 (Keratin-associated protein 9.3) (Ultrahigh sulfur keratin-associated protein 9.3)

sequence:
MTHCCSPCCQPTCCRTTCWQPTTVTTCSSTPCCQPSCCVSSCCQPCCHPTCCQNTCCRTTCCQPICVTSCCQPSCCSTPCCQPTCCGSSCGQSSSCAPVYCRRTCYHPTSVCLPGCLNQSCGSNCCQPCCRPACCETTCCRTTCFQPTCVYSCCQPSCC


uniprotID: P32004
geneSymbol: L1CAM
reactome: R-HSA-210991;R-HSA-373760;R-HSA-437239;R-HSA-445095;R-HSA-445144;
name: Neural cell adhesion molecule L1 (N-CAM-L1) (NCAM-L1) (CD antigen CD171)
length: 1257
go: ENSG00000198910;
sequence:

opentargets:
axon [GO:0030424]; axonal growth cone [GO:0044295]; cell surface [GO:0009986]; collagen-containing extracellular matrix [GO:0062023]; dendrite [GO:0030425]; focal adhesion [GO:0005925]; integral component of membrane [GO:0016021]; neuronal cell body [GO:0043025]; plasma membrane [GO:0005886]; axon guidance receptor activity [GO:0008046]; protein domain specific binding [GO:0019904]; axon development [GO:0061564]; axon guidance [GO:0007411]; cell adhesion [GO:0007155]; cell migration [GO:0016477]; cell-matrix adhesion [GO:0007160]; chemotaxis [GO:0006935]; homophilic cell adhesion via plasma membrane adhesion molecules [GO:0007156]; leukocyte migration [GO:0050900]; nervous system development [GO:0007399]; neuron projection development [GO:0031175]; positive regulation of axon extension [GO:0045773]; synapse organization [GO:0050808]

snps:
rs201151358 rs796052697 rs137852523 rs137852521 rs28933683 rs137852526 rs137852518 rs1131691900 rs367665974 rs137852524 rs137852520 rs886039408 rs1064794246 rs782401498 rs137852519 rs398123360 rs1375788131 rs886039409 rs142424573 rs137852525 rs36021462 rs148516831 rs797045674 rs35902890 rs137852522 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=P32004-1; Sequence=Displayed; Name=2; IsoId=P32004-2; Sequence=VSP_002591; Name=3; IsoId=P32004-3; Sequence=VSP_046317, VSP_002591; 

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:12514225, ECO:0000269|PubMed:20621658, ECO:0000269|PubMed:22973895, ECO:0000269|PubMed:26891472}; Single-pass type I membrane protein {ECO:0000250|UniProtKB:Q05695}. Cell projection, growth cone {ECO:0000250|UniProtKB:Q05695}. Cell projection, axon {ECO:0000269|PubMed:20621658}. Cell projection, dendrite. Note=Colocalized with SHTN1 in close apposition with actin filaments in filopodia and lamellipodia of axonalne growth cones of hippocampal neurons (By similarity). In neurons, detected predominantly in axons and cell body, weak localization to dendrites (PubMed:20621658). {ECO:0000250|UniProtKB:Q05695, ECO:0000269|PubMed:20621658}.


uniprotID: Q9Y2K7
geneSymbol: KDM2A
reactome: R-HSA-3214842;
pdb: 2YU1;2YU2;4BBQ;6BYH;6C16;
length: 1162
go: ENSG00000173120;
name:
Lysine-specific demethylase 2A (EC 1.14.11.27) (CXXC-type zinc finger protein 8) (F-box and leucine-rich repeat protein 11) (F-box protein FBL7) (F-box protein Lilina) (F-box/LRR-repeat protein 11) (JmjC domain-containing histone demethylation protein 1A) ([Histone-H3]-lysine-36 demethylase 1A)

sequence:

opentargets:
nucleoplasm [GO:0005654]; DNA binding [GO:0003677]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; histone demethylase activity [GO:0032452]; histone demethylase activity (H3-K36 specific) [GO:0051864]; zinc ion binding [GO:0008270]; double-strand break repair via nonhomologous end joining [GO:0006303]; histone H3-K36 demethylation [GO:0070544]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=5;  Name=1; IsoId=Q9Y2K7-1; Sequence=Displayed; Name=2; IsoId=Q9Y2K7-2; Sequence=VSP_017468; Note=No experimental confirmation available.; Name=4; IsoId=Q9Y2K7-4; Sequence=VSP_046938; Name=5; IsoId=Q9Y2K7-5; Sequence=VSP_046939, VSP_046940; Name=3; IsoId=Q9Y2K7-3; Sequence=VSP_017469, VSP_017470; 

location:
SUBCELLULAR LOCATION: Nucleus, nucleoplasm {ECO:0000269|PubMed:19001877, ECO:0000269|PubMed:20417597}. Note=Punctate expression throughout the nucleoplasm and enriched in the perinucleolar region. Specifically nucleates at CpG islands where it's presence results in chromatin depleted in H3K36me2.


uniprotID: Q16774
geneSymbol: GUK1
reactome: R-HSA-2161541;R-HSA-499943;
name: Guanylate kinase (EC 2.7.4.8) (GMP kinase)
length: 197
go: ENSG00000143774;
drug: DB01972;
sequence:
MSGPRPVVLSGPSGAGKSTLLKRLLQEHSGIFGFSVSHTTRNPRPGEENGKDYYFVTREVMQRDIAAGDFIEHAEFSGNLYGTSKVAVQAVQAMNRICVLDVDLQGVRNIKATDLRPIYISVQPPSLHVLEQRLRQRNTETEESLVKRLAAAQADMESSKEPGLFDVVIINDSLDQAYAELKEALSEEIKKAQRTGA

opentargets:
cytosol [GO:0005829]; ATP binding [GO:0005524]; guanylate kinase activity [GO:0004385]; ATP metabolic process [GO:0046034]; dATP metabolic process [GO:0046060]; dGDP biosynthetic process [GO:0006185]; dGMP metabolic process [GO:0046054]; GDP biosynthetic process [GO:0046711]; GDP-mannose metabolic process [GO:0019673]; glycoprotein transport [GO:0034436]; nucleobase-containing small molecule interconversion [GO:0015949]; nucleotide phosphorylation [GO:0046939]; purine nucleotide metabolic process [GO:0006163]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q16774-1; Sequence=Displayed; Name=2; IsoId=Q16774-2; Sequence=VSP_043778; Name=3; IsoId=Q16774-3; Sequence=VSP_043778, VSP_047372; Note=Gene prediction based on EST data.; 


uniprotID: O95198
geneSymbol: KLHL2
reactome: R-HSA-8951664;R-HSA-983168;
pdb: 2XN4;4CHB;
name: Kelch-like protein 2 (Actin-binding protein Mayven)
length: 593
go: ENSG00000109466;
sequence:

opentargets:
actin cytoskeleton [GO:0015629]; Cul3-RING ubiquitin ligase complex [GO:0031463]; cytoplasm [GO:0005737]; cytosol [GO:0005829]; lamellipodium [GO:0030027]; ruffle [GO:0001726]; actin binding [GO:0003779]; identical protein binding [GO:0042802]; post-translational protein modification [GO:0043687]; protein ubiquitination [GO:0016567]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=O95198-1; Sequence=Displayed; Name=2; IsoId=O95198-2; Sequence=VSP_042837; Note=No experimental confirmation available.; Name=3; IsoId=O95198-3; Sequence=VSP_047004; Note=Gene prediction based on EST data.; 

location:
SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton. Cell projection, ruffle. Cell projection {ECO:0000250}. Cell projection, lamellipodium {ECO:0000250}. Cytoplasm, cytosol. Note=A proportion colocalizes with the actin cytoskeleton. When over-expressed, colocalizes with NPTXR in perinuclear aggresomes (By similarity). {ECO:0000250}.


uniprotID: Q6PIU1
geneSymbol: KCNV1
reactome: R-HSA-1296072;
length: 500
go: ENSG00000164794;
snps: rs17852611
name:
Potassium voltage-gated channel subfamily V member 1 (Neuronal potassium channel alpha subunit HNKA) (Voltage-gated potassium channel subunit Kv8.1)

sequence:

opentargets:
integral component of membrane [GO:0016021]; integral component of plasma membrane [GO:0005887]; plasma membrane [GO:0005886]; voltage-gated potassium channel complex [GO:0008076]; ion channel inhibitor activity [GO:0008200]; potassium channel regulator activity [GO:0015459]; voltage-gated potassium channel activity [GO:0005249]; potassium ion transmembrane transport [GO:0071805]; potassium ion transport [GO:0006813]; protein homooligomerization [GO:0051260]; regulation of ion transmembrane transport [GO:0034765]

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:8670833, ECO:0000269|PubMed:9079713}; Multi-pass membrane protein {ECO:0000269|PubMed:8670833, ECO:0000269|PubMed:9079713}. Note=Has to be associated with another potassium channel subunit to get inserted in the plasma membrane. Remains intracellular in the absence of KCNB2.


uniprotID: Q3LI83
geneSymbol: KRTAP24-1
reactome: R-HSA-6805567;
name: Keratin-associated protein 24-1
length: 254
sequence:

opentargets:
cytosol [GO:0005829]; keratin filament [GO:0045095]; structural molecule activity [GO:0005198]; keratinization [GO:0031424]


uniprotID: Q8N7A1
geneSymbol: KLHDC1
name: Kelch domain-containing protein 1
length: 406
go: ENSG00000197776;
opentargets: cytosol [GO:0005829]
location: SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:16964437}.
sequence:


uniprotID: Q9BYQ2
geneSymbol: KRTAP9-4
reactome: R-HSA-6805567;
length: 154
go: ENSG00000241595;
opentargets: cytosol [GO:0005829]; keratin filament [GO:0045095]; keratinization [GO:0031424]
snps: rs2191379
name:
Keratin-associated protein 9-4 (Keratin-associated protein 9.4) (Ultrahigh sulfur keratin-associated protein 9.4)

sequence:
MTHCCSPCCQPTCCRTTCCRTTCWKPTTVTTCSSTPCCQPSCCVSSCCQPCCRPTCCQNTCCQPTCVTSCCQPSCCSTPCCQPTCCGSSCDQSSSCAPVYCRRTCYYPTTVCLPGCLNQSCGSNCCQPCCRPACCETTCFQPTCVSSCCQPFCC


uniprotID: A0A075B6P5
geneSymbol: IGKV2-28
name: Immunoglobulin kappa variable 2-28
length: 120
go: ENSG00000244116;
sequence:
MRLPAQLLGLLMLWVSGSSGDIVMTQSPLSLPVTPGEPASISCRSSQSLLHSNGYNYLDWYLQKPGQSPQLLIYLGSNRASGVPDRFSGSGSGTDFTLKISRVEAEDVGVYYCMQALQTP


uniprotID: Q14012
geneSymbol: CAMK1
pdb: 4FG7;4FG8;4FG9;4FGB;
length: 370
go: ENSG00000134072;
snps: rs907102077 rs56033923
name:
Calcium/calmodulin-dependent protein kinase type 1 (EC 2.7.11.17) (CaM kinase I) (CaM-KI) (CaM kinase I alpha) (CaMKI-alpha)

sequence:

opentargets:
cytoplasm [GO:0005737]; glutamatergic synapse [GO:0098978]; nucleus [GO:0005634]; postsynaptic density [GO:0014069]; ATP binding [GO:0005524]; calmodulin binding [GO:0005516]; calmodulin-dependent protein kinase activity [GO:0004683]; cell cycle [GO:0007049]; negative regulation of protein binding [GO:0032091]; nucleocytoplasmic transport [GO:0006913]; positive regulation of dendritic spine development [GO:0060999]; positive regulation of muscle cell differentiation [GO:0051149]; positive regulation of neuron projection development [GO:0010976]; positive regulation of peptidyl-serine phosphorylation [GO:0033138]; positive regulation of protein acetylation [GO:1901985]; positive regulation of protein export from nucleus [GO:0046827]; positive regulation of protein serine/threonine kinase activity [GO:0071902]; positive regulation of synapse structural plasticity [GO:0051835]; positive regulation of syncytium formation by plasma membrane fusion [GO:0060143]; positive regulation of transcription by RNA polymerase II [GO:0045944]; protein phosphorylation [GO:0006468]; regulation of muscle cell differentiation [GO:0051147]; regulation of protein binding [GO:0043393]; regulation of protein localization [GO:0032880]; signal transduction [GO:0007165]

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250}. Nucleus {ECO:0000250}. Note=Predominantly cytoplasmic. {ECO:0000250}.


uniprotID: Q7Z7F0
geneSymbol: KHDC4
pdb: 2YQR;
length: 614
go: ENSG00000132680;
name:
KH homology domain-containing protein 4 (Brings lots of money 7) (Pre-mRNA splicing factor protein KHDC4)

sequence:

opentargets:
cytoplasm [GO:0005737]; nucleus [GO:0005634]; RNA binding [GO:0003723]; mRNA splice site selection [GO:0006376]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; Synonyms=Alpha, Blom7alpha {ECO:0000303|PubMed:19641227}; IsoId=Q7Z7F0-1; Sequence=Displayed; Name=2; Synonyms=Beta, KIAA0907 {ECO:0000303|PubMed:19641227}; IsoId=Q7Z7F0-2; Sequence=VSP_027242, VSP_027243; Note=Interacts with U2AF65. {ECO:0000269|PubMed:19641227}; Name=3; Synonyms=Gamma; IsoId=Q7Z7F0-3; Sequence=VSP_027240, VSP_027241; Name=4; IsoId=Q7Z7F0-4; Sequence=VSP_027238, VSP_027239; 

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:19641227, ECO:0000269|PubMed:23144703}. Cytoplasm {ECO:0000269|PubMed:19641227}.


uniprotID: Q96MP8
geneSymbol: KCTD7
reactome: R-HSA-8951664;R-HSA-983168;
name: BTB/POZ domain-containing protein KCTD7
length: 289
go: ENSG00000243335;
snps: rs754476100 rs387907260 rs387907263 rs387907262 rs387907246 rs387907261
location: SUBCELLULAR LOCATION: Cell membrane. Cytoplasm, cytosol.
sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; plasma membrane [GO:0005886]; cellular potassium ion homeostasis [GO:0030007]; glutamate homeostasis [GO:0090461]; membrane hyperpolarization [GO:0060081]; positive regulation of transporter activity [GO:0032411]; post-translational protein modification [GO:0043687]; protein homooligomerization [GO:0051260]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q96MP8-1; Sequence=Displayed; Name=2; IsoId=Q96MP8-2; Sequence=VSP_020760; Note=No experimental confirmation available.; 


uniprotID: B2CW77
geneSymbol: KLLN
name: Killin
length: 178
go: ENSG00000227268;
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:18385383}.
sequence:
MDRPGPGSARPGRTVHVWGYRVEWKVRNGRKLQPSEWAGRGDLGGFKRRWKDTRATVGTTFRRRSRVSLVGELSKFPLPSDSSGGKSSSSFARGALAWCRQRNPNPSCAAAETGARTSLPKERCRGWRLGNWLHKHPHPNTCPRLPACWLPPILTERGERVPKLVPLLACYPKSKPKD

opentargets:
nucleolus [GO:0005730]; nucleus [GO:0005634]; DNA binding [GO:0003677]; apoptotic process [GO:0006915]; cell cycle arrest [GO:0007050]


uniprotID: P46020
geneSymbol: PHKA1
reactome: R-HSA-70221;
length: 1223
go: ENSG00000067177;
snps: rs137852547
name:
Phosphorylase b kinase regulatory subunit alpha, skeletal muscle isoform (Phosphorylase kinase alpha M subunit)

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=3;  Name=1; Synonyms=AC; IsoId=P46020-1; Sequence=Displayed; Name=2; Synonyms=C; IsoId=P46020-2; Sequence=VSP_004697; Name=3; IsoId=P46020-3; Sequence=VSP_042517, VSP_042518; 


uniprotID: P46019
geneSymbol: PHKA2
reactome: R-HSA-70221;
length: 1235
go: ENSG00000044446;
name:
Phosphorylase b kinase regulatory subunit alpha, liver isoform (Phosphorylase kinase alpha L subunit)

sequence:

opentargets:
cytosol [GO:0005829]; phosphorylase kinase complex [GO:0005964]; plasma membrane [GO:0005886]; calmodulin binding [GO:0005516]; phosphorylase kinase activity [GO:0004689]; carbohydrate metabolic process [GO:0005975]; cellular protein modification process [GO:0006464]; generation of precursor metabolites and energy [GO:0006091]; glycogen metabolic process [GO:0005977]

snps:
rs17313469 rs137852291 rs137852292 rs137852294 rs137852290 rs137852295 rs797044877 rs137852289 rs16980929 rs199792389 rs777137574 rs137852293 rs137852288 


uniprotID: Q76NI1
geneSymbol: KNDC1
length: 1749
go: ENSG00000171798;
snps: rs3810964 rs35152544 rs2998139 rs35604376 rs11101642
name:
Kinase non-catalytic C-lobe domain-containing protein 1 (KIND domain-containing protein 1) (Cerebral protein 9) (Protein very KIND) (v-KIND) (Ras-GEF domain-containing family member 2)

sequence:

opentargets:
dendrite [GO:0030425]; guanyl-nucleotide exchange factor complex [GO:0032045]; neuronal cell body [GO:0043025]; perikaryon [GO:0043204]; Ras guanyl-nucleotide exchange factor activity [GO:0005088]; cerebellar granule cell differentiation [GO:0021707]; positive regulation of protein phosphorylation [GO:0001934]; regulation of dendrite development [GO:0050773]; regulation of dendrite morphogenesis [GO:0048814]; small GTPase mediated signal transduction [GO:0007264]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=6;  Name=1; IsoId=Q76NI1-1; Sequence=Displayed; Name=2; IsoId=Q76NI1-2; Sequence=VSP_028594, VSP_028596, VSP_028597; Name=3; IsoId=Q76NI1-3; Sequence=VSP_028594; Name=4; IsoId=Q76NI1-4; Sequence=VSP_028595, VSP_028598; Name=5; IsoId=Q76NI1-5; Sequence=VSP_028593; Name=6; IsoId=Q76NI1-6; Sequence=VSP_028592; 

location:
SUBCELLULAR LOCATION: Cell projection, dendrite {ECO:0000250|UniProtKB:Q0KK55}. Perikaryon {ECO:0000250|UniProtKB:Q0KK55}.


uniprotID: P60410
geneSymbol: KRTAP10-8
reactome: R-HSA-6805567;
length: 259
go: ENSG00000187766;
snps: rs411254 rs763238933
name:
Keratin-associated protein 10-8 (High sulfur keratin-associated protein 10.8) (Keratin-associated protein 10.8) (Keratin-associated protein 18-8) (Keratin-associated protein 18.8)

sequence:

opentargets:
cytosol [GO:0005829]; keratin filament [GO:0045095]; identical protein binding [GO:0042802]; keratinization [GO:0031424]


uniprotID: Q14533
geneSymbol: KRT81
reactome: R-HSA-6805567;R-HSA-6809371;
length: 505
go: ENSG00000205426;
snps: rs2071588 rs6580873 rs4761786 rs56821304 rs771393943 rs57419521
name:
Keratin, type II cuticular Hb1 (Hair keratin K2.9) (Keratin, hair, basic, 1) (Keratin-81) (K81) (Metastatic lymph node 137 gene protein) (MLN 137) (Type II hair keratin Hb1) (Type-II keratin Kb21) (ghHKb1) (ghHb1)

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: Q107X0
geneSymbol: KLKP1
length: 134
opentargets: cytoplasm [GO:0005737]; nucleus [GO:0005634]
name:
Putative protein KRIP1 (Kallikrein-related in prostate protein 1) (Kallikrein-related mRNA protein) (KARMA)

sequence:
MSPVHRSRTSQTQEAHKPTSTLSFISPPQPPRQDPKSPHILCSQPNACSRQSHVSYPNPWGLPCSQSKVSPPGTATNPNPKEWSRISGPPVSLDPQPWSSAPFKPTAQLPLLAQSLGPPAKPALPDPALPLQML

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:18196551}. Nucleus {ECO:0000269|PubMed:18196551}.


uniprotID: O14686
geneSymbol: KMT2D
reactome: R-HSA-201722;R-HSA-3214841;R-HSA-3769402;R-HSA-5617472;R-HSA-8936459;
pdb: 3UVK;4ERQ;4Z4P;
length: 5537
go: ENSG00000167548;
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000305}.
name:
Histone-lysine N-methyltransferase 2D (Lysine N-methyltransferase 2D) (EC 2.1.1.43) (ALL1-related protein) (Myeloid/lymphoid or mixed-lineage leukemia protein 2)

sequence:

opentargets:
histone methyltransferase complex [GO:0035097]; MLL3/4 complex [GO:0044666]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; DNA binding [GO:0003677]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; histone binding [GO:0042393]; histone methyltransferase activity (H3-K4 specific) [GO:0042800]; histone-lysine N-methyltransferase activity [GO:0018024]; metal ion binding [GO:0046872]; transcription coactivator activity [GO:0003713]; transcription regulatory region DNA binding [GO:0044212]; beta-catenin-TCF complex assembly [GO:1904837]; chromatin silencing [GO:0006342]; histone H3-K4 methylation [GO:0051568]; oocyte growth [GO:0001555]; oogenesis [GO:0048477]; positive regulation of cell proliferation [GO:0008284]; positive regulation of intracellular estrogen receptor signaling pathway [GO:0033148]; positive regulation of transcription by RNA polymerase II [GO:0045944]; regulation of megakaryocyte differentiation [GO:0045652]; regulation of transcription, DNA-templated [GO:0006355]; response to estrogen [GO:0043627]

snps:
rs200245957 rs1064210 rs776242478 rs200088180 rs202076833 rs75226229 rs202217665 rs111266743 rs3741626 rs570260017 rs189888707 rs147706410 rs763347763 rs75937132 rs146044282 rs1342235871 rs80132640 rs778418522 rs533214351 rs375999143 rs398123724 rs886041404 rs886043497 rs267607237 rs398123729 rs3782356 rs267607238 rs1388523736 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=O14686-1; Sequence=Displayed; Name=3; IsoId=O14686-3; Sequence=VSP_008560; 


uniprotID: Q14681
geneSymbol: KCTD2
length: 263
go: ENSG00000180901;
name:
BTB/POZ domain-containing protein KCTD2 (Potassium channel tetramerization domain-containing protein 2)

sequence:

opentargets:
Cul3-RING ubiquitin ligase complex [GO:0031463]; cytoplasm [GO:0005737]; cullin family protein binding [GO:0097602]; protein-containing complex binding [GO:0044877]; proteasome-mediated ubiquitin-dependent protein catabolic process [GO:0043161]; protein homooligomerization [GO:0051260]


uniprotID: Q96KK3
geneSymbol: KCNS1
reactome: R-HSA-1296072;
length: 526
go: ENSG00000124134;
snps: rs734784 rs7264544
name:
Potassium voltage-gated channel subfamily S member 1 (Delayed-rectifier K(+) channel alpha subunit 1) (Voltage-gated potassium channel subunit Kv9.1)

sequence:

opentargets:
integral component of membrane [GO:0016021]; perinuclear region of cytoplasm [GO:0048471]; plasma membrane [GO:0005886]; voltage-gated potassium channel complex [GO:0008076]; delayed rectifier potassium channel activity [GO:0005251]; potassium channel regulator activity [GO:0015459]; voltage-gated potassium channel activity [GO:0005249]; potassium ion transmembrane transport [GO:0071805]; potassium ion transport [GO:0006813]; protein homooligomerization [GO:0051260]; regulation of delayed rectifier potassium channel activity [GO:1902259]

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:10484328}; Multi-pass membrane protein {ECO:0000305}. Note=May not reach the plasma membrane but remain in an intracellular compartment in the absence of KCNB1 or KCNB2 (PubMed:10484328). {ECO:0000269|PubMed:10484328}.


uniprotID: O60259
geneSymbol: KLK8
reactome: R-HSA-6809371;
pdb: 5MS3;5MS4;
length: 260
go: ENSG00000129455;
snps: rs16988799
name:
Kallikrein-8 (hK8) (EC 3.4.21.118) (Neuropsin) (NP) (Ovasin) (Serine protease 19) (Serine protease TADG-14) (Tumor-associated differentially expressed gene 14 protein)

sequence:

opentargets:
cytoplasm [GO:0005737]; extracellular region [GO:0005576]; extracellular space [GO:0005615]; secretory granule [GO:0030141]; serine protease inhibitor complex [GO:0097180]; serine-type endopeptidase activity [GO:0004252]; cell death [GO:0008219]; keratinocyte proliferation [GO:0043616]; memory [GO:0007613]; negative regulation of axon regeneration [GO:0048681]; negative regulation of myelination [GO:0031642]; neuron projection morphogenesis [GO:0048812]; regulation of synapse organization [GO:0050807]; response to wounding [GO:0009611]; synapse organization [GO:0050808]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=O60259-1; Sequence=Displayed; Name=2; IsoId=O60259-2; Sequence=VSP_005401; Note=Produced as a result of a human-specific mutation which is not found in other primates.; Name=3; IsoId=O60259-3; Sequence=VSP_030350; Name=4; IsoId=O60259-4; Sequence=VSP_030351, VSP_030352; 

location:
SUBCELLULAR LOCATION: Secreted {ECO:0000269|PubMed:17761692}. Cytoplasm {ECO:0000269|PubMed:17761692}. Note=Shows a cytoplasmic distribution in the keratinocytes.


uniprotID: Q96RR4
geneSymbol: CAMKK2
pdb: 2ZV2;5UY6;5UYJ;5VT1;6BKU;6BLE;6BQL;6BQP;6BQQ;6BRC;6CMJ;6EWW;6FEL;
length: 588
go: ENSG00000110931;
snps: rs28360477 rs3817190 rs35403710 rs1207121718 rs1132780 rs34129994
name:
Calcium/calmodulin-dependent protein kinase kinase 2 (CaM-KK 2) (CaM-kinase kinase 2) (CaMKK 2) (EC 2.7.11.17) (Calcium/calmodulin-dependent protein kinase kinase beta) (CaM-KK beta) (CaM-kinase kinase beta) (CaMKK beta)

sequence:

opentargets:
cell projection [GO:0042995]; cytosol [GO:0005829]; intracellular [GO:0005622]; nucleus [GO:0005634]; ATP binding [GO:0005524]; calcium ion binding [GO:0005509]; calmodulin binding [GO:0005516]; calmodulin-dependent protein kinase activity [GO:0004683]; protein tyrosine kinase activity [GO:0004713]; calcium-mediated signaling [GO:0019722]; CAMKK-AMPK signaling cascade [GO:0061762]; cellular response to reactive oxygen species [GO:0034614]; MAPK cascade [GO:0000165]; positive regulation of autophagy of mitochondrion [GO:1903599]; positive regulation of protein phosphorylation [GO:0001934]; positive regulation of transcription, DNA-templated [GO:0045893]; protein autophosphorylation [GO:0046777]; protein phosphorylation [GO:0006468]; regulation of protein kinase activity [GO:0045859]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=7;  Name=1; Synonyms=Beta1, CAMKK2+E16; IsoId=Q96RR4-1; Sequence=Displayed; Note=Major isoform.; Name=2; Synonyms=Beta2; IsoId=Q96RR4-2; Sequence=VSP_012146, VSP_012147, VSP_012149; Note=Major isoform.; Name=3; Synonyms=Beta1delta16, CAMKK2-E16; IsoId=Q96RR4-3; Sequence=VSP_012143, VSP_012144, VSP_012145, VSP_012149; Name=4; Synonyms=Beta1delta14; IsoId=Q96RR4-4; Sequence=VSP_012142; Name=5; Synonyms=Beta1delta14/16, beta-3x; IsoId=Q96RR4-5; Sequence=VSP_012142, VSP_012143, VSP_012144, VSP_012145, VSP_012149; Note=Inactive. Does not activate CAMK1 and CAMK4. {ECO:0000244|PubMed:18691976}; Name=6; Synonyms=Beta2delta14; IsoId=Q96RR4-6; Sequence=VSP_012142, VSP_012146, VSP_012147, VSP_012149; Note=Inactive. Does not activate CAMK1 and CAMK4.; Name=7; IsoId=Q96RR4-7; Sequence=VSP_012148, VSP_012149; 

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000250}. Cytoplasm {ECO:0000269|PubMed:21957496}. Cell projection {ECO:0000269|PubMed:21957496}. Note=Predominantly nuclear in unstimulated cells (By similarity). Found in the cytoplasm and neurites after forskolin induction. {ECO:0000250}.


uniprotID: Q96QS6
geneSymbol: PSKH2
name: Serine/threonine-protein kinase H2 (EC 2.7.11.1) (Protein serine kinase H2) (PSK-H2)
length: 385
opentargets: ATP binding [GO:0005524]; protein serine/threonine kinase activity [GO:0004674]
sequence:

snps:
rs56407605 rs35315725 rs35915498 rs16879427 rs56356246 rs6998760 rs36074412 rs778066815 rs34457516 rs34037815 rs16876805 


uniprotID: Q6L8G8
geneSymbol: KRTAP5-7
reactome: R-HSA-6805567;
length: 165
go: ENSG00000244411;
opentargets: cytosol [GO:0005829]; keratin filament [GO:0045095]; keratinization [GO:0031424]
name:
Keratin-associated protein 5-7 (Keratin-associated protein 5-3) (Keratin-associated protein 5.3) (Keratin-associated protein 5.7) (Ultrahigh sulfur keratin-associated protein 5.7)

sequence:
MGCCGCSEGCGSGCGGCGSGCGGCGSGCGGCGSSCCVPVCCCKPVCCCVPACSCSSCGSCGGSKGGCGSCGGSKGGCGSCGGSKGGCGSCGCSQCSCYKPCCCSSGCGSSCCQSSCCKPCCCQSSCCKPCCCSSGCGSSCCQSSCCNPCCSQSSCCVPVCCQCKI


uniprotID: Q52LG2
geneSymbol: KRTAP13-2
reactome: R-HSA-6805567;
name: Keratin-associated protein 13-2
length: 175
go: ENSG00000182816;
opentargets: cytosol [GO:0005829]; intermediate filament [GO:0005882]; keratinization [GO:0031424]
snps: rs16986753 rs3804010
sequence:
MSYNCCSGNFSSRSCGDYLRYPASSRGFSYPSNLVYSTDLCSPSTCQLGSSLYRGCQEICWEPTSCQTSYVESSPCQTSCYRPRTSLLCSPCKTTYSGSLGFGSSSCRSLGYGSRSCYSVGCGSSGVRSLGYGSCGFPSLGYGSGFCRPTYLASRSCQSPCYRPAYGSTFCRSTC


uniprotID: Q3SY46
geneSymbol: KRTAP13-3
reactome: R-HSA-6805567;
name: Keratin-associated protein 13-3
length: 172
opentargets: cytosol [GO:0005829]; intermediate filament [GO:0005882]; keratinization [GO:0031424]
sequence:
MSYNCCSRNFSSCSHGGYLHYPGSSCGSSYPSNLVYSTDLCSPSTCQLGSSLYRGCQETCWRPNSCQTLCVESSPCHTSCYYPRTHMLCNSCLTMHVGSRGFGSNSCCSLSCGSRSCSSLGCGSNGFRYLNYRIHTSPSQSYRSRFCHPIYFPPRRWFHSSCYQPFCRSGFY


uniprotID: Q3LI77
geneSymbol: KRTAP13-4
reactome: R-HSA-6805567;
name: Keratin-associated protein 13-4
length: 160
opentargets: cytosol [GO:0005829]; intermediate filament [GO:0005882]; keratinization [GO:0031424]
snps: rs2226548 rs999597
sequence:
MSYNCCSRNFSSRSFGGYLYYPGSYPSSLVYSTALCSPSTCQLRSSLYRDCQKTCWEPASCQKSCYRPRTSILCCPCQTTCSGSLGFRSSSCRSQGYGSRCCYSLGNGSSGFRFLKYGGCGFPSLSYGSRFCYPNYLASGAWQSSCYRPICGSRFYQFTC


uniprotID: P0DP09
geneSymbol: IGKV1-13
name: Immunoglobulin kappa variable 1-13
length: 117
go: ENSG00000276566;
sequence:
MDMRVPAQLLGLLLLWLPGARCAIQLTQSPSSLSASVGDRVTITCRASQGISSALAWYQQKPGKAPKLLIYDASSLESGVPSRFSGSGSGTDFTLTISSLQPEDFATYYCQQFNSYP


uniprotID: O43525
geneSymbol: KCNQ3
reactome: R-HSA-1296072;R-HSA-445095;
pdb: 5J03;
length: 872
go: ENSG00000184156;
drug: DB00321;DB00586;DB04953;DB06089;DB00939;
snps: rs118192248 rs118192249 rs118192250 rs2303995 rs118192252 rs74582884 rs138852641
name:
Potassium voltage-gated channel subfamily KQT member 3 (KQT-like 3) (Potassium channel subunit alpha KvLQT3) (Voltage-gated potassium channel subunit Kv7.3)

sequence:

opentargets:
axon initial segment [GO:0043194]; cell surface [GO:0009986]; integral component of membrane [GO:0016021]; integral component of plasma membrane [GO:0005887]; node of Ranvier [GO:0033268]; plasma membrane [GO:0005886]; voltage-gated potassium channel complex [GO:0008076]; calmodulin binding [GO:0005516]; delayed rectifier potassium channel activity [GO:0005251]; voltage-gated potassium channel activity [GO:0005249]; chemical synaptic transmission [GO:0007268]; membrane hyperpolarization [GO:0060081]; potassium ion transmembrane transport [GO:0071805]; regulation of ion transmembrane transport [GO:0034765]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=O43525-1; Sequence=Displayed; Name=2; IsoId=O43525-2; Sequence=VSP_044906, VSP_044907; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:10788442}; Multi-pass membrane protein {ECO:0000255}.


uniprotID: Q2TBA0
geneSymbol: KLHL40
pdb: 4ASC;
name: Kelch-like protein 40 (Kelch repeat and BTB domain-containing protein 5) (Sarcosynapsin)
length: 621
go: ENSG00000157119;
sequence:

opentargets:
A band [GO:0031672]; Cul3-RING ubiquitin ligase complex [GO:0031463]; cytoplasm [GO:0005737]; I band [GO:0031674]; negative regulation of proteasomal ubiquitin-dependent protein catabolic process [GO:0032435]; negative regulation of protein ubiquitination [GO:0031397]; positive regulation of proteasomal ubiquitin-dependent protein catabolic process [GO:0032436]; positive regulation of protein ubiquitination [GO:0031398]; skeletal muscle fiber development [GO:0048741]; skeletal muscle fiber differentiation [GO:0098528]

snps:
rs778565563 rs397509420 rs6805421 rs773649133 rs770866675 rs367579275 rs758188096 rs778022582 rs397509419 rs397509421 rs201856772 rs123509 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q2TBA0-1; Sequence=Displayed; Name=2; IsoId=Q2TBA0-2; Sequence=VSP_022681, VSP_022682; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250|UniProtKB:Q9D783}. Cytoplasm, myofibril, sarcomere, A band {ECO:0000269|PubMed:23746549}. Cytoplasm, myofibril, sarcomere, I band {ECO:0000250|UniProtKB:Q9D783}.


uniprotID: Q13351
geneSymbol: KLF1
pdb: 2L2I;2MBH;2N23;
name: Krueppel-like factor 1 (Erythroid krueppel-like transcription factor) (EKLF)
length: 362
go: ENSG00000105610;
sequence:

opentargets:
nuclear chromatin [GO:0000790]; nucleoplasm [GO:0005654]; 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 activator activity, RNA polymerase II-specific [GO:0001077]; proximal promoter sequence-specific DNA binding [GO:0000987]; RNA polymerase II proximal promoter sequence-specific DNA binding [GO:0000978]; transcription regulatory region DNA binding [GO:0044212]; cellular response to peptide [GO:1901653]; erythrocyte differentiation [GO:0030218]; maternal process involved in female pregnancy [GO:0060135]; positive regulation of transcription by RNA polymerase II [GO:0045944]; positive regulation of transcription, DNA-templated [GO:0045893]; regulation of transcription by RNA polymerase II [GO:0006357]; regulation of transcription, DNA-templated [GO:0006355]

snps:
rs483352842 rs2072597 rs2072596 rs387907598 rs137852688 rs137852688 rs267607201 rs140252918 rs483352841 rs387907599 rs483352839 

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:21055716, ECO:0000269|PubMed:25585695}. Note=Colocalizes with SUMO1 in nuclear speckles. {ECO:0000250}.


uniprotID: P59991
geneSymbol: KRTAP12-2
reactome: R-HSA-6805567;
length: 146
go: ENSG00000221864;
opentargets: cytosol [GO:0005829]; keratin filament [GO:0045095]; keratinization [GO:0031424]
snps: rs13046903 rs7275298 rs7275281 rs7276859 rs12483730 rs2838622
name:
Keratin-associated protein 12-2 (High sulfur keratin-associated protein 12.2) (Keratin-associated protein 12.2)

sequence:
MCHTSCSSGCQPACCAPSPCQPACCVPSSCQASCCVPVGCQSSVCVPVSFKPAVCLPVSCQSSVCVPMSFKSAVCVPVSCQSSVCVPVSCRPIVCAAPSCQSSLCVPVSCRPVVYAAPSCQSSGCCQPSCTSVLCRPISYSISSCC


uniprotID: Q9Y2U9
geneSymbol: KLHDC2
length: 406
go: ENSG00000165516;
opentargets: nuclear body [GO:0016604]; nuclear membrane [GO:0031965]; nucleus [GO:0005634]
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:11384994}.
name:
Kelch domain-containing protein 2 (Hepatocellular carcinoma-associated antigen 33) (Host cell factor homolog LCP) (Host cell factor-like protein 1) (HCLP-1)

sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9Y2U9-1; Sequence=Displayed; Name=2; IsoId=Q9Y2U9-2; Sequence=VSP_030165, VSP_030166; Note=No experimental confirmation available.; 


uniprotID: A8MXZ3
geneSymbol: KRTAP9-1
reactome: R-HSA-6805567;
name: Keratin-associated protein 9-1 (Keratin-associated protein 9-like 3)
length: 250
opentargets: cytosol [GO:0005829]; keratin filament [GO:0045095]; keratinization [GO:0031424]
sequence:


uniprotID: Q04759
geneSymbol: PRKCQ
pdb: 1XJD;2ENJ;2ENN;2ENZ;2JED;4Q9Z;4RA5;5F9E;
name: Protein kinase C theta type (EC 2.7.11.13) (nPKC-theta)
length: 706
go: ENSG00000065675;
drug: DB04522;DB02482;DB02010;DB00675;
snps: rs45590231 rs2236379 rs34524148
reactome:
R-HSA-111465;R-HSA-114508;R-HSA-202424;R-HSA-2514859;R-HSA-2871837;R-HSA-373752;R-HSA-418597;R-HSA-8936459;

sequence:

opentargets:
aggresome [GO:0016235]; cytosol [GO:0005829]; immunological synapse [GO:0001772]; microtubule organizing center [GO:0005815]; plasma membrane [GO:0005886]; ATP binding [GO:0005524]; metal ion binding [GO:0046872]; protein kinase activity [GO:0004672]; protein kinase C activity [GO:0004697]; protein serine/threonine kinase activity [GO:0004674]; axon guidance [GO:0007411]; cell chemotaxis [GO:0060326]; Fc-epsilon receptor signaling pathway [GO:0038095]; inflammatory response [GO:0006954]; intracellular signal transduction [GO:0035556]; membrane protein ectodomain proteolysis [GO:0006509]; negative regulation of insulin receptor signaling pathway [GO:0046627]; negative regulation of T cell apoptotic process [GO:0070233]; peptidyl-serine phosphorylation [GO:0018105]; platelet activation [GO:0030168]; positive regulation of interleukin-17 production [GO:0032740]; positive regulation of interleukin-2 biosynthetic process [GO:0045086]; positive regulation of interleukin-4 production [GO:0032753]; positive regulation of NF-kappaB transcription factor activity [GO:0051092]; positive regulation of T cell activation [GO:0050870]; positive regulation of T cell proliferation [GO:0042102]; positive regulation of T-helper 17 type immune response [GO:2000318]; positive regulation of T-helper 2 cell activation [GO:2000570]; positive regulation of telomerase activity [GO:0051973]; positive regulation of telomere capping [GO:1904355]; positive regulation of telomere maintenance via telomerase [GO:0032212]; regulation of cell growth [GO:0001558]; regulation of megakaryocyte differentiation [GO:0045652]; regulation of platelet aggregation [GO:0090330]; regulation of transcription, DNA-templated [GO:0006355]; T cell receptor signaling pathway [GO:0050852]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q04759-1; Sequence=Displayed; Name=2; IsoId=Q04759-2; Sequence=VSP_017294; Name=3; IsoId=Q04759-3; Sequence=VSP_054550; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasm. Cell membrane; Peripheral membrane protein. Note=In resting T-cells, mostly localized in cytoplasm. In response to TCR stimulation, associates with lipid rafts and then localizes in the immunological synapse.


uniprotID: A6NM11
geneSymbol: LRRC37A2
name: Leucine-rich repeat-containing protein 37A2
length: 1700
opentargets: integral component of membrane [GO:0016021]
snps: rs1863115 rs62073349 rs1969205 rs201103889
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Single-pass type I membrane protein {ECO:0000305}.
sequence:


uniprotID: Q14525
geneSymbol: KRT33B
reactome: R-HSA-6805567;R-HSA-6809371;
name: Keratin, type I cuticular Ha3-II (Hair keratin, type I Ha3-II) (Keratin-33B) (K33B)
length: 404
go: ENSG00000131738;
sequence:

opentargets:
cytosol [GO:0005829]; extracellular exosome [GO:0070062]; extracellular space [GO:0005615]; intermediate filament [GO:0005882]; structural molecule activity [GO:0005198]; aging [GO:0007568]; cornification [GO:0070268]; hair cycle [GO:0042633]; keratinization [GO:0031424]


uniprotID: Q9NR64
geneSymbol: KLHL1
name: Kelch-like protein 1
length: 748
go: ENSG00000150361;
location: SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton.
sequence:

opentargets:
cytoplasm [GO:0005737]; cytoskeleton [GO:0005856]; dendrite [GO:0030425]; neuronal cell body [GO:0043025]; actin binding [GO:0003779]; actin cytoskeleton organization [GO:0030036]; adult walking behavior [GO:0007628]; cerebellar Purkinje cell layer development [GO:0021680]; dendrite development [GO:0016358]


uniprotID: Q969F8
geneSymbol: KISS1R
reactome: R-HSA-375276;R-HSA-416476;
length: 398
go: ENSG00000116014;
snps: rs104894703 rs28939719 rs73507527 rs397514699 rs745580229 rs144670595 rs350132 rs121908499
location: SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein.
name:
KiSS-1 receptor (KiSS-1R) (G-protein coupled receptor 54) (G-protein coupled receptor OT7T175) (hOT7T175) (Hypogonadotropin-1) (Kisspeptins receptor) (Metastin receptor)

sequence:

opentargets:
cell surface [GO:0009986]; integral component of membrane [GO:0016021]; integral component of plasma membrane [GO:0005887]; intracellular membrane-bounded organelle [GO:0043231]; plasma membrane [GO:0005886]; G protein-coupled peptide receptor activity [GO:0008528]; neuropeptide receptor activity [GO:0008188]; G protein-coupled receptor signaling pathway [GO:0007186]; neuropeptide signaling pathway [GO:0007218]


uniprotID: Q9UH77
geneSymbol: KLHL3
reactome: R-HSA-8951664;R-HSA-983168;
pdb: 4CH9;4HXI;5NKP;
name: Kelch-like protein 3
length: 587
go: ENSG00000146021;
sequence:

opentargets:
Cul3-RING ubiquitin ligase complex [GO:0031463]; cytoskeleton [GO:0005856]; cytosol [GO:0005829]; actin binding [GO:0003779]; structural molecule activity [GO:0005198]; distal tubule morphogenesis [GO:0072156]; ion homeostasis [GO:0050801]; post-translational protein modification [GO:0043687]; protein K48-linked ubiquitination [GO:0070936]; protein ubiquitination [GO:0016567]; renal sodium ion absorption [GO:0070294]; ubiquitin-dependent protein catabolic process [GO:0006511]

snps:
rs199469623 rs199469624 rs199469625 rs199469626 rs199469627 rs199469639 rs199469640 rs199469628 rs200892557 rs199469629 rs951676369 rs199469630 rs387907155 rs199469641 rs387907156 rs199469642 rs199469643 rs199469631 rs199469632 rs907779058 rs199469633 rs746774345 rs199469634 rs199469635 rs199469636 rs199469645 rs199469646 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=A; Synonyms=KLHL3A {ECO:0000303|PubMed:10843806}; IsoId=Q9UH77-1; Sequence=Displayed; Name=B; Synonyms=KLHL3B {ECO:0000303|PubMed:10843806}; IsoId=Q9UH77-2; Sequence=VSP_002816; Name=C; Synonyms=KLHL3C {ECO:0000303|PubMed:10843806}; IsoId=Q9UH77-3; Sequence=VSP_002817; 

location:
SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton {ECO:0000269|PubMed:22406640}. Cytoplasm, cytosol {ECO:0000269|PubMed:22406640}.


uniprotID: O14901
geneSymbol: KLF11
pdb: 1PO4;
length: 512
go: ENSG00000172059;
snps: rs35927125 rs34336420 rs121912645 rs35476458
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:9748269}.
name:
Krueppel-like factor 11 (Transforming growth factor-beta-inducible early growth response protein 2) (TGFB-inducible early growth response protein 2) (TIEG-2)

sequence:

opentargets:
cytosol [GO:0005829]; focal adhesion [GO:0005925]; nuclear body [GO:0016604]; nucleoplasm [GO:0005654]; 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]; transcription regulatory region DNA binding [GO:0044212]; apoptotic process [GO:0006915]; cellular response to peptide [GO:1901653]; negative regulation of cell proliferation [GO:0008285]; negative regulation of transcription by RNA polymerase II [GO:0000122]; positive regulation of apoptotic process [GO:0043065]; regulation of transcription by RNA polymerase II [GO:0006357]; regulation of transcription involved in G1/S transition of mitotic cell cycle [GO:0000083]; transcription by RNA polymerase II [GO:0006366]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=O14901-1; Sequence=Displayed; Name=2; IsoId=O14901-2; Sequence=VSP_042695; 


uniprotID: Q9UEF7
geneSymbol: KL
pdb: 5W21;
name: Klotho (EC 3.2.1.31) [Cleaved into: Klotho peptide]
length: 1012
go: ENSG00000133116;
snps: rs1052018 rs1052019 rs121908423 rs9536314 rs9527025 rs3752472 rs139939367
reactome:
R-HSA-109704;R-HSA-1257604;R-HSA-190374;R-HSA-2219530;R-HSA-5654219;R-HSA-5654687;R-HSA-5654688;R-HSA-5654689;R-HSA-5654693;R-HSA-5654726;R-HSA-5673001;R-HSA-6811558;

sequence:

opentargets:
apical plasma membrane [GO:0016324]; extracellular exosome [GO:0070062]; extracellular region [GO:0005576]; extracellular space [GO:0005615]; integral component of membrane [GO:0016021]; integral component of plasma membrane [GO:0005887]; intracellular [GO:0005622]; plasma membrane [GO:0005886]; 1-phosphatidylinositol-3-kinase activity [GO:0016303]; beta-glucosidase activity [GO:0008422]; beta-glucuronidase activity [GO:0004566]; fibroblast growth factor binding [GO:0017134]; fibroblast growth factor receptor binding [GO:0005104]; hormone activity [GO:0005179]; phosphatidylinositol-4,5-bisphosphate 3-kinase activity [GO:0046934]; Ras guanyl-nucleotide exchange factor activity [GO:0005088]; vitamin D binding [GO:0005499]; aging [GO:0007568]; calcium ion homeostasis [GO:0055074]; carbohydrate metabolic process [GO:0005975]; energy reserve metabolic process [GO:0006112]; fibroblast growth factor receptor signaling pathway [GO:0008543]; insulin receptor signaling pathway [GO:0008286]; MAPK cascade [GO:0000165]; positive regulation of bone mineralization [GO:0030501]; positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathway [GO:0090080]; positive regulation of protein kinase B signaling [GO:0051897]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; Synonyms=Membrane-bound; IsoId=Q9UEF7-1; Sequence=Displayed; Name=2; Synonyms=Secreted; IsoId=Q9UEF7-2; Sequence=VSP_015824, VSP_015825; Note=Predominates over the membrane form in all tissues examined.; 

location:
SUBCELLULAR LOCATION: Isoform 1: Cell membrane {ECO:0000269|PubMed:10631108, ECO:0000269|PubMed:15135068}; Single-pass type I membrane protein {ECO:0000305}. Apical cell membrane {ECO:0000250|UniProtKB:O35082}; Single-pass type I membrane protein {ECO:0000250|UniProtKB:O35082}. Note=Isoform 1 shedding leads to a soluble peptide. {ECO:0000250|UniProtKB:O35082}.; SUBCELLULAR LOCATION: Isoform 2: Secreted {ECO:0000269|PubMed:10631108, ECO:0000269|PubMed:15135068}.; SUBCELLULAR LOCATION: Klotho peptide: Secreted {ECO:0000250|UniProtKB:O35082}.


uniprotID: P05129
geneSymbol: PRKCG
reactome: R-HSA-111933;R-HSA-114516;R-HSA-416993;R-HSA-418597;R-HSA-5099900;R-HSA-76005;
pdb: 2E73;2UZP;
name: Protein kinase C gamma type (PKC-gamma) (EC 2.7.11.13)
length: 697
go: ENSG00000126583;
drug: DB00675;
snps: rs121918511 rs121918512 rs121918513 rs752933837
sequence:

opentargets:
calyx of Held [GO:0044305]; cell-cell junction [GO:0005911]; cytosol [GO:0005829]; dendrite [GO:0030425]; nucleus [GO:0005634]; perinuclear region of cytoplasm [GO:0048471]; plasma membrane [GO:0005886]; postsynaptic cytosol [GO:0099524]; postsynaptic density [GO:0014069]; presynaptic cytosol [GO:0099523]; synaptic membrane [GO:0097060]; ATP binding [GO:0005524]; calcium-dependent protein kinase C activity [GO:0004698]; protein kinase activity [GO:0004672]; protein kinase C activity [GO:0004697]; protein serine/threonine kinase activity [GO:0004674]; protein serine/threonine/tyrosine kinase activity [GO:0004712]; zinc ion binding [GO:0008270]; chemical synaptic transmission [GO:0007268]; chemosensory behavior [GO:0007635]; innervation [GO:0060384]; intracellular signal transduction [GO:0035556]; learning or memory [GO:0007611]; negative regulation of neuron apoptotic process [GO:0043524]; negative regulation of proteasomal protein catabolic process [GO:1901799]; negative regulation of protein catabolic process [GO:0042177]; negative regulation of protein ubiquitination [GO:0031397]; peptidyl-serine phosphorylation [GO:0018105]; phosphorylation [GO:0016310]; platelet activation [GO:0030168]; positive regulation of mismatch repair [GO:0032425]; presynaptic modulation of chemical synaptic transmission [GO:0099171]; protein autophosphorylation [GO:0046777]; protein phosphorylation [GO:0006468]; regulation of circadian rhythm [GO:0042752]; regulation of phagocytosis [GO:0050764]; regulation of response to food [GO:0032095]; regulation of synaptic vesicle exocytosis [GO:2000300]; response to morphine [GO:0043278]; response to pain [GO:0048265]; response to psychosocial stress [GO:1990911]; rhythmic process [GO:0048511]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P05129-1; Sequence=Displayed; Name=2; IsoId=P05129-2; Sequence=VSP_056467, VSP_056468, VSP_056469; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250|UniProtKB:P63318}. Cytoplasm, perinuclear region {ECO:0000250}. Cell membrane {ECO:0000269|PubMed:29053796}; Peripheral membrane protein {ECO:0000250}. Cell junction, synapse, synaptosome {ECO:0000250|UniProtKB:P63318}. Cell projection, dendrite {ECO:0000250|UniProtKB:P63319}. Note=Translocates to synaptic membranes on stimulation. {ECO:0000250|UniProtKB:P63318}.


uniprotID: Q3LI81
geneSymbol: KRTAP27-1
reactome: R-HSA-6805567;
name: Keratin-associated protein 27-1
length: 207
opentargets: cytosol [GO:0005829]; intermediate filament [GO:0005882]; keratinization [GO:0031424]
snps: rs2244485
sequence:


uniprotID: P78385
geneSymbol: KRT83
reactome: R-HSA-6805567;R-HSA-6809371;
length: 493
go: ENSG00000170523;
snps: rs2857663 rs2852464 rs57802288 rs2857671
name:
Keratin, type II cuticular Hb3 (Hair keratin K2.10) (Keratin-83) (K83) (Type II hair keratin Hb3) (Type-II keratin Kb23)

sequence:

opentargets:
cytosol [GO:0005829]; extracellular space [GO:0005615]; keratin filament [GO:0045095]; structural molecule activity [GO:0005198]; aging [GO:0007568]; cornification [GO:0070268]; epidermis development [GO:0008544]; hair cycle [GO:0042633]; keratinization [GO:0031424]


uniprotID: Q8N1A0
geneSymbol: KRT222
name: Keratin-like protein KRT222 (Keratin-222) (Keratin-222 pseudogene)
length: 295
go: ENSG00000213424;ENSG00000264058;
opentargets: intermediate filament [GO:0005882]; structural molecule activity [GO:0005198]
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q8N1A0-1; Sequence=Displayed; Name=2; IsoId=Q8N1A0-2; Sequence=VSP_034744; 


uniprotID: Q9HA64
geneSymbol: FN3KRP
reactome: R-HSA-163841;
length: 309
go: ENSG00000141560;
snps: rs3748811
name:
Ketosamine-3-kinase (EC 2.7.1.-) (Fructosamine-3-kinase-related protein) (FN3K-RP) (FN3K-related protein)

sequence:

opentargets:
cytosol [GO:0005829]; kinase activity [GO:0016301]; post-translational protein modification [GO:0043687]


uniprotID: Q9Y6C7
geneSymbol: LINC00312
sequence: MAHHSLNTFYIWHNNVLHTHLVFFLPHLLNQPFSRGSFLIWLLLCWNSWYHLRTLRRQANQANKLSMMLLRVKQSPGTKLCHGDSELTSGLLAT
length: 94
name:
Putative uncharacterized protein encoded by LINC00312 (Loss of heterozygosity 3 chromosomal region 2 gene A protein)


uniprotID: O15229
geneSymbol: KMO
reactome: R-HSA-71240;
pdb: 5X68;
name: Kynurenine 3-monooxygenase (EC 1.14.13.9) (Kynurenine 3-hydroxylase)
length: 486
go: ENSG00000117009;
snps: rs1053230
sequence:

opentargets:
cytosol [GO:0005829]; extracellular space [GO:0005615]; integral component of membrane [GO:0016021]; mitochondrial outer membrane [GO:0005741]; mitochondrion [GO:0005739]; FAD binding [GO:0071949]; flavin adenine dinucleotide binding [GO:0050660]; kynurenine 3-monooxygenase activity [GO:0004502]; NAD(P)H oxidase activity [GO:0016174]; 'de novo' NAD biosynthetic process from tryptophan [GO:0034354]; aging [GO:0007568]; anthranilate metabolic process [GO:0043420]; cellular response to interleukin-1 [GO:0071347]; cellular response to lipopolysaccharide [GO:0071222]; kynurenic acid biosynthetic process [GO:0034276]; kynurenine metabolic process [GO:0070189]; L-kynurenine metabolic process [GO:0097052]; NAD metabolic process [GO:0019674]; positive regulation of glutamate secretion, neurotransmission [GO:1903296]; positive regulation of neuron death [GO:1901216]; quinolinate biosynthetic process [GO:0019805]; response to salt stress [GO:0009651]; tryptophan catabolic process [GO:0006569]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1 {ECO:0000269|PubMed:10672018, ECO:0000269|PubMed:9237672}; IsoId=O15229-1; Sequence=Displayed; Name=2 {ECO:0000269|PubMed:16710414}; IsoId=O15229-2; Sequence=VSP_051973; Note=Gene model based on cDNA data. No experimental confirmation available.; Name=3 {ECO:0000269|PubMed:16710414}; IsoId=O15229-3; Sequence=VSP_051972; Note=Gene model based on mouse cDNA data. No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Mitochondrion outer membrane {ECO:0000255|HAMAP-Rule:MF_03018, ECO:0000269|PubMed:9237672}; Multi-pass membrane protein {ECO:0000255|HAMAP-Rule:MF_03018, ECO:0000269|PubMed:9237672}.


uniprotID: Q6JEL2
geneSymbol: KLHL10
name: Kelch-like protein 10
length: 608
go: ENSG00000161594;
snps: rs116420871 rs370756367
location: SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250}.
sequence:

opentargets:
cytoplasm [GO:0005737]; cell morphogenesis [GO:0000902]; fertilization [GO:0009566]; homeostasis of number of cells within a tissue [GO:0048873]; male genitalia morphogenesis [GO:0048808]; male gonad development [GO:0008584]; protein ubiquitination [GO:0016567]; spermatid development [GO:0007286]


uniprotID: P50748
geneSymbol: KNTC1
reactome: R-HSA-141444;R-HSA-2467813;R-HSA-2500257;R-HSA-5663220;R-HSA-68877;
name: Kinetochore-associated protein 1 (Rough deal homolog) (HsROD) (Rod) (hRod)
length: 2209
go: ENSG00000184445;
snps: rs7968222 rs17883249 rs35315099 rs7310898 rs11837038
sequence:

opentargets:
actin cytoskeleton [GO:0015629]; condensed chromosome kinetochore [GO:0000777]; cytosol [GO:0005829]; kinetochore microtubule [GO:0005828]; nucleus [GO:0005634]; plasma membrane [GO:0005886]; RZZ complex [GO:1990423]; spindle pole [GO:0000922]; cell division [GO:0051301]; mitotic cell cycle checkpoint [GO:0007093]; protein-containing complex assembly [GO:0065003]; regulation of exit from mitosis [GO:0007096]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P50748-1; Sequence=Displayed; Name=2; IsoId=P50748-2; Sequence=VSP_057013, VSP_057014, VSP_057015; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasm. Nucleus. Chromosome, centromere, kinetochore. Cytoplasm, cytoskeleton, spindle. Note=Dynamic pattern of localization during the cell cycle. At interphase, uniformly distributed throughout the cytoplasm and nucleus. By prophase and until late stages of prometaphase, a fraction of the total pool is concentrated at kinetochores. By metaphase, detected at kinetochores, along spindle fibers and most prominently at the poles. By late anaphase until the end of telophase, no longer detectable on kinetochores or along spindle fibers, but still present at the spindle poles.


uniprotID: Q02156
geneSymbol: PRKCE
reactome: R-HSA-114508;R-HSA-1250196;R-HSA-1489509;R-HSA-2029485;R-HSA-418597;
pdb: 2WH0;5LIH;
name: Protein kinase C epsilon type (EC 2.7.11.13) (nPKC-epsilon)
length: 737
go: ENSG00000171132;
drug: DB06064;DB00675;
snps: rs772834505 rs55989965 rs55767130 rs34077350 rs35777875
sequence:

opentargets:
cell periphery [GO:0071944]; cytoplasm [GO:0005737]; cytoskeleton [GO:0005856]; cytosol [GO:0005829]; endoplasmic reticulum [GO:0005783]; Golgi apparatus [GO:0005794]; mitochondrion [GO:0005739]; nucleus [GO:0005634]; perinuclear region of cytoplasm [GO:0048471]; plasma membrane [GO:0005886]; 14-3-3 protein binding [GO:0071889]; actin monomer binding [GO:0003785]; ATP binding [GO:0005524]; calcium-independent protein kinase C activity [GO:0004699]; enzyme activator activity [GO:0008047]; enzyme binding [GO:0019899]; ethanol binding [GO:0035276]; metal ion binding [GO:0046872]; protein kinase C activity [GO:0004697]; protein serine/threonine kinase activity [GO:0004674]; receptor activator activity [GO:0030546]; apoptotic process [GO:0006915]; cell adhesion [GO:0007155]; cell cycle [GO:0007049]; cell division [GO:0051301]; cellular response to ethanol [GO:0071361]; cellular response to hypoxia [GO:0071456]; cellular response to prostaglandin E stimulus [GO:0071380]; Fc-gamma receptor signaling pathway involved in phagocytosis [GO:0038096]; intracellular signal transduction [GO:0035556]; lipopolysaccharide-mediated signaling pathway [GO:0031663]; locomotory exploration behavior [GO:0035641]; macrophage activation involved in immune response [GO:0002281]; negative regulation of protein ubiquitination [GO:0031397]; negative regulation of sodium ion transmembrane transporter activity [GO:2000650]; peptidyl-serine phosphorylation [GO:0018105]; platelet activation [GO:0030168]; positive regulation of actin filament polymerization [GO:0030838]; positive regulation of cell-substrate adhesion [GO:0010811]; positive regulation of cellular glucuronidation [GO:2001031]; positive regulation of cytokinesis [GO:0032467]; positive regulation of epithelial cell migration [GO:0010634]; positive regulation of fibroblast migration [GO:0010763]; positive regulation of I-kappaB kinase/NF-kappaB signaling [GO:0043123]; positive regulation of insulin secretion [GO:0032024]; positive regulation of lipid catabolic process [GO:0050996]; positive regulation of MAPK cascade [GO:0043410]; positive regulation of mucus secretion [GO:0070257]; positive regulation of protein localization to plasma membrane [GO:1903078]; positive regulation of synaptic transmission, GABAergic [GO:0032230]; positive regulation of wound healing [GO:0090303]; protein phosphorylation [GO:0006468]; regulation of insulin secretion involved in cellular response to glucose stimulus [GO:0061178]; regulation of peptidyl-tyrosine phosphorylation [GO:0050730]; regulation of release of sequestered calcium ion into cytosol [GO:0051279]; release of sequestered calcium ion into cytosol [GO:0051209]; response to morphine [GO:0043278]; signal transduction [GO:0007165]; TRAM-dependent toll-like receptor 4 signaling pathway [GO:0035669]

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:17603037}. Cytoplasm, cytoskeleton {ECO:0000269|PubMed:17603037}. Cell membrane {ECO:0000269|PubMed:17603037}. Cytoplasm, perinuclear region {ECO:0000250}. Nucleus {ECO:0000250}. Note=Translocated to plasma membrane in epithelial cells stimulated by HGF. Associated with the Golgi at the perinuclear site in pre-passage fibroblasts (By similarity). In passaging cells, translocated to the cell periphery (By similarity). Translocated to the nucleus in PMA-treated cells (By similarity). {ECO:0000250}.


uniprotID: Q9BXK1
geneSymbol: KLF16
length: 252
go: ENSG00000129911;
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000250}.
name:
Krueppel-like factor 16 (Basic transcription element-binding protein 4) (BTE-binding protein 4) (Novel Sp1-like zinc finger transcription factor 2) (Transcription factor BTEB4) (Transcription factor NSLP2)

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 repressor activity, RNA polymerase II-specific [GO:0001078]; RNA polymerase II proximal promoter sequence-specific DNA binding [GO:0000978]; dopamine receptor signaling pathway [GO:0007212]; regulation of transcription by RNA polymerase II [GO:0006357]


uniprotID: Q5H943
geneSymbol: CT83
name: Kita-kyushu lung cancer antigen 1 (KK-LC-1) (Cancer/testis antigen 83)
length: 113
go: ENSG00000204019;
opentargets: integral component of membrane [GO:0016021]; nucleus [GO:0005634]; plasma membrane [GO:0005886]
sequence:
MNFYLLLASSILCALIVFWKYRRFQRNTGEMSSNSTALALVRPSSSGLINSNTDNNLAVYDLSRDILNNFPHSIARQKRILVNLSMVENKLVELEHTLLSKGFRGASPHRKST

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:16651449}; Single-pass type II membrane protein {ECO:0000269|PubMed:16651449}.


uniprotID: Q8IUC1
geneSymbol: KRTAP11-1
reactome: R-HSA-6805567;
name: Keratin-associated protein 11-1 (High sulfur keratin-associated protein 11.1)
length: 163
go: ENSG00000182591;
snps: rs9636845
sequence:
MSFNCSTRNCSSRPIGGRCIVPVAQVTTTSTTDADCLGGICLPSSFQTGSWLLDHCQETCCEPTACQPTCYRRTSCVSNPCQVTCSRQTTCISNPCSTTYSRPLTFVSSGCQPLGGISSVCQPVGGISTVCQPVGGVSTVCQPACGVSRTYQQSCVSSCRRTC

opentargets:
cytosol [GO:0005829]; keratin filament [GO:0045095]; structural molecule activity [GO:0005198]; keratinization [GO:0031424]


uniprotID: Q96S38
geneSymbol: RPS6KC1
length: 1066
go: ENSG00000136643;
snps: rs56087470 rs56032860 rs56369827 rs56183862 rs35281247 rs17020314 rs56060894 rs34080597
name:
Ribosomal protein S6 kinase delta-1 (S6K-delta-1) (EC 2.7.11.1) (52 kDa ribosomal protein S6 kinase) (Ribosomal S6 kinase-like protein with two PSK domains 118 kDa protein) (SPHK1-binding protein)

sequence:

opentargets:
early endosome [GO:0005769]; membrane [GO:0016020]; ATP binding [GO:0005524]; phosphatidylinositol binding [GO:0035091]; protein serine/threonine kinase activity [GO:0004674]; signal transduction [GO:0007165]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q96S38-1; Sequence=Displayed; Name=2; IsoId=Q96S38-2; Sequence=VSP_046333; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:12077123, ECO:0000269|PubMed:15750338}. Membrane {ECO:0000269|PubMed:12077123}. Early endosome {ECO:0000269|PubMed:15750338}.


uniprotID: A0A0C4DH73
geneSymbol: IGKV1-12
name: Immunoglobulin kappa variable 1-12
length: 117
go: ENSG00000243290;
sequence:
MDMRVPAQLLGLLLLWFPGSRCDIQMTQSPSSVSASVGDRVTITCRASQGISSWLAWYQQKPGKAPKLLIYAASSLQSGVPSRFSGSGSGTDFTLTISSLQPEDFATYYCQQANSFP


uniprotID: Q9Y5K2
geneSymbol: KLK4
pdb: 2BDG;2BDH;2BDI;4K1E;4K8Y;4KEL;4KGA;
length: 254
go: ENSG00000167749;
snps: rs1654551 rs34626614 rs2569527
location: SUBCELLULAR LOCATION: Secreted.
name:
Kallikrein-4 (EC 3.4.21.-) (Enamel matrix serine proteinase 1) (Kallikrein-like protein 1) (KLK-L1) (Prostase) (Serine protease 17)

sequence:

opentargets:
extracellular region [GO:0005576]; secretory granule [GO:0030141]; metal ion binding [GO:0046872]; serine-type endopeptidase activity [GO:0004252]; serine-type peptidase activity [GO:0008236]; amelogenesis [GO:0097186]; biomineral tissue development [GO:0031214]; extracellular matrix disassembly [GO:0022617]; proteolysis [GO:0006508]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9Y5K2-1; Sequence=Displayed; Name=2; IsoId=Q9Y5K2-2; Sequence=VSP_056629, VSP_056630; 


uniprotID: A4D0S4
geneSymbol: LAMB4
name: Laminin subunit beta-4 (Laminin beta-1-related protein)
length: 1761
go: ENSG00000091128;
opentargets: basement membrane [GO:0005604]; cell adhesion [GO:0007155]
snps: rs35644375 rs2074749 rs9690688 rs2240445 rs10260756 rs1627354 rs2528693
location: SUBCELLULAR LOCATION: Secreted, extracellular space, extracellular matrix, basement membrane.
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=A4D0S4-1; Sequence=Displayed; Name=2; IsoId=A4D0S4-2; Sequence=VSP_029913, VSP_029914; Name=3; IsoId=A4D0S4-3; Sequence=VSP_029915, VSP_029916; 


uniprotID: Q6TFL4
geneSymbol: KLHL24
name: Kelch-like protein 24 (Kainate receptor-interacting protein for GluR6) (KRIP6) (Protein DRE1)
length: 600
go: ENSG00000114796;
sequence:

opentargets:
adherens junction [GO:0005912]; axon [GO:0030424]; Cul3-RING ubiquitin ligase complex [GO:0031463]; cytoplasm [GO:0005737]; desmosome [GO:0030057]; perikaryon [GO:0043204]; intermediate filament organization [GO:0045109]; protein autoubiquitination [GO:0051865]; protein ubiquitination [GO:0016567]; regulation of kainate selective glutamate receptor activity [GO:2000312]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q6TFL4-1; Sequence=Displayed; Name=2; IsoId=Q6TFL4-2; Sequence=VSP_028644, VSP_028645; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Perikaryon. Cell projection, axon {ECO:0000250|UniProtKB:Q56A24}. Cytoplasm {ECO:0000250|UniProtKB:Q56A24, ECO:0000269|PubMed:27889062}. Cell junction, desmosome {ECO:0000269|PubMed:27889062}. Cell junction, adherens junction {ECO:0000269|PubMed:27889062}.


uniprotID: Q05655
geneSymbol: PRKCD
pdb: 1YRK;2YUU;
length: 676
go: ENSG00000163932;
drug: DB04376;DB05013;DB00675;
snps: rs33911937 rs1056998 rs34502209 rs35891605
reactome:
R-HSA-111465;R-HSA-111933;R-HSA-114508;R-HSA-1250196;R-HSA-1489509;R-HSA-2029485;R-HSA-418597;R-HSA-450520;R-HSA-5218921;R-HSA-5607764;R-HSA-6798695;R-HSA-877300;

name:
Protein kinase C delta type (EC 2.7.11.13) (Tyrosine-protein kinase PRKCD) (EC 2.7.10.2) (nPKC-delta) [Cleaved into: Protein kinase C delta type regulatory subunit; Protein kinase C delta type catalytic subunit (Sphingosine-dependent protein kinase-1) (SDK1)]

sequence:

opentargets:
azurophil granule lumen [GO:0035578]; cell-cell junction [GO:0005911]; cytoplasm [GO:0005737]; cytosol [GO:0005829]; endoplasmic reticulum [GO:0005783]; extracellular exosome [GO:0070062]; extracellular region [GO:0005576]; nuclear matrix [GO:0016363]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; perinuclear region of cytoplasm [GO:0048471]; plasma membrane [GO:0005886]; ATP binding [GO:0005524]; calcium-independent protein kinase C activity [GO:0004699]; enzyme activator activity [GO:0008047]; enzyme binding [GO:0019899]; insulin receptor substrate binding [GO:0043560]; kinase binding [GO:0019900]; metal ion binding [GO:0046872]; non-membrane spanning protein tyrosine kinase activity [GO:0004715]; 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 protein kinase activity [GO:0032147]; apoptotic process [GO:0006915]; B cell proliferation [GO:0042100]; cell chemotaxis [GO:0060326]; cell cycle [GO:0007049]; cellular response to angiotensin [GO:1904385]; cellular response to hydrogen peroxide [GO:0070301]; cellular response to hydroperoxide [GO:0071447]; cellular senescence [GO:0090398]; defense response to bacterium [GO:0042742]; Fc-gamma receptor signaling pathway involved in phagocytosis [GO:0038096]; histone phosphorylation [GO:0016572]; immunoglobulin mediated immune response [GO:0016064]; interferon-gamma-mediated signaling pathway [GO:0060333]; interleukin-10 production [GO:0032613]; interleukin-12 production [GO:0032615]; intracellular signal transduction [GO:0035556]; intrinsic apoptotic signaling pathway in response to oxidative stress [GO:0008631]; negative regulation of actin filament polymerization [GO:0030837]; negative regulation of filopodium assembly [GO:0051490]; negative regulation of glial cell apoptotic process [GO:0034351]; negative regulation of inflammatory response [GO:0050728]; negative regulation of insulin receptor signaling pathway [GO:0046627]; negative regulation of MAP kinase activity [GO:0043407]; negative regulation of peptidyl-tyrosine phosphorylation [GO:0050732]; negative regulation of platelet aggregation [GO:0090331]; negative regulation of protein binding [GO:0032091]; neutrophil activation [GO:0042119]; neutrophil degranulation [GO:0043312]; peptidyl-serine phosphorylation [GO:0018105]; peptidyl-threonine phosphorylation [GO:0018107]; platelet activation [GO:0030168]; positive regulation of apoptotic signaling pathway [GO:2001235]; positive regulation of ceramide biosynthetic process [GO:2000304]; positive regulation of endodeoxyribonuclease activity [GO:0032079]; positive regulation of glucosylceramide catabolic process [GO:2000753]; positive regulation of phospholipid scramblase activity [GO:1900163]; positive regulation of protein dephosphorylation [GO:0035307]; positive regulation of protein import into nucleus [GO:0042307]; positive regulation of response to DNA damage stimulus [GO:2001022]; positive regulation of sphingomyelin catabolic process [GO:2000755]; positive regulation of superoxide anion generation [GO:0032930]; protein phosphorylation [GO:0006468]; protein stabilization [GO:0050821]; regulation of actin cytoskeleton organization [GO:0032956]; regulation of mRNA stability [GO:0043488]; regulation of signaling receptor activity [GO:0010469]; signal transduction [GO:0007165]; stimulatory C-type lectin receptor signaling pathway [GO:0002223]; termination of signal transduction [GO:0023021]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q05655-1; Sequence=Displayed; Name=2; Synonyms=PKCdeltaVIII; IsoId=Q05655-2; Sequence=VSP_043899; Note=Antiapoptotic isoform, resistant to caspase-3 cleavage.; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:15774464, ECO:0000269|PubMed:17603046, ECO:0000269|PubMed:18285462}. Cytoplasm, perinuclear region {ECO:0000269|PubMed:15774464, ECO:0000269|PubMed:17603046}. Nucleus {ECO:0000269|PubMed:15774464, ECO:0000269|PubMed:17603046, ECO:0000269|PubMed:18285462}. Cell membrane {ECO:0000269|PubMed:17603046}; Peripheral membrane protein {ECO:0000305|PubMed:17603046}.


uniprotID: P60411
geneSymbol: KRTAP10-9
reactome: R-HSA-6805567;
length: 292
opentargets: cytosol [GO:0005829]; keratin filament [GO:0045095]; keratinization [GO:0031424]
snps: rs8127342 rs9980129
name:
Keratin-associated protein 10-9 (High sulfur keratin-associated protein 10.9) (Keratin-associated protein 10.9) (Keratin-associated protein 18-9) (Keratin-associated protein 18.9)

sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=1;  Comment=A number of isoforms are produced.; Name=1; IsoId=P60411-1; Sequence=Displayed; 


uniprotID: Q9NSB4
geneSymbol: KRT82
reactome: R-HSA-6805567;R-HSA-6809371;
name: Keratin, type II cuticular Hb2 (Keratin-82) (K82) (Type II hair keratin Hb2) (Type-II keratin Kb22)
length: 513
go: ENSG00000161850;
snps: rs1791634 rs1732263 rs2658658
sequence:

opentargets:
cytosol [GO:0005829]; keratin filament [GO:0045095]; structural constituent of epidermis [GO:0030280]; cornification [GO:0070268]; keratinization [GO:0031424]


uniprotID: P60328
geneSymbol: KRTAP12-3
reactome: R-HSA-6805567;
sequence: MCHTSCSPACQPTCCIHSPCQASCYVPVSCQSSVCMPVSCTRIVCVAPSCQPSVCVPVSCRPIIYVTPSCQSSGCCQPPCTTALCRPISCSTPSCC
length: 96
go: ENSG00000205439;
opentargets: cytosol [GO:0005829]; keratin filament [GO:0045095]; keratinization [GO:0031424]
snps: rs9306111
name:
Keratin-associated protein 12-3 (High sulfur keratin-associated protein 12.3) (Keratin-associated protein 12.3)


uniprotID: Q9Y337
geneSymbol: KLK5
reactome: R-HSA-6809371;
pdb: 2PSX;2PSY;
name: Kallikrein-5 (EC 3.4.21.-) (Kallikrein-like protein 2) (KLK-L2) (Stratum corneum tryptic enzyme)
length: 293
go: ENSG00000167754;
snps: rs2232532 rs183854
location: SUBCELLULAR LOCATION: Secreted.
sequence:

opentargets:
cytosol [GO:0005829]; epidermal lamellar body [GO:0097209]; extracellular region [GO:0005576]; extracellular space [GO:0005615]; secretory granule [GO:0030141]; endopeptidase activity [GO:0004175]; peptidase activity [GO:0008233]; serine-type endopeptidase activity [GO:0004252]; serine-type peptidase activity [GO:0008236]; amelogenesis [GO:0097186]; cornification [GO:0070268]; epidermis development [GO:0008544]; extracellular matrix disassembly [GO:0022617]; positive regulation of antibacterial peptide production [GO:0002803]; positive regulation of G protein-coupled receptor signaling pathway [GO:0045745]


uniprotID: Q9UKQ9
geneSymbol: KLK9
name: Kallikrein-9 (EC 3.4.21.-) (Kallikrein-like protein 3) (KLK-L3)
length: 250
go: ENSG00000213022;ENSG00000269741;
location: SUBCELLULAR LOCATION: Secreted {ECO:0000305}.
sequence:

opentargets:
extracellular region [GO:0005576]; secretory granule [GO:0030141]; serine-type endopeptidase activity [GO:0004252]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9UKQ9-1; Sequence=Displayed; Name=2; IsoId=Q9UKQ9-2; Sequence=VSP_057044, VSP_057045; 


uniprotID: Q6P597
geneSymbol: KLC3
reactome: R-HSA-2132295;R-HSA-5625970;R-HSA-6811434;R-HSA-983189;
name: Kinesin light chain 3 (KLC2-like) (kinesin light chain 2)
length: 504
go: ENSG00000104892;
sequence:

opentargets:
ciliary rootlet [GO:0035253]; cytoplasm [GO:0005737]; kinesin complex [GO:0005871]; microtubule [GO:0005874]; motile cilium [GO:0031514]; neuron projection [GO:0043005]; kinesin binding [GO:0019894]; microtubule binding [GO:0008017]; microtubule motor activity [GO:0003777]; axo-dendritic transport [GO:0008088]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q6P597-1; Sequence=Displayed; Name=2; IsoId=Q6P597-2; Sequence=VSP_017832; Note=No experimental confirmation available.; Name=3; IsoId=Q6P597-3; Sequence=VSP_017831; 

location:
SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton {ECO:0000250|UniProtKB:Q68G30, ECO:0000250|UniProtKB:Q91W40}. Note=In elongating spermatid tail midpiece, localized in outer dense fibers (ODFs) and associates with mitochondria. Also localizes to the manchette in elongating spermatids. {ECO:0000250|UniProtKB:Q68G30, ECO:0000250|UniProtKB:Q91W40}.


uniprotID: A8MYU2
geneSymbol: KCNU1
reactome: R-HSA-1300642;
pdb: 4HPF;
length: 1149
go: ENSG00000215262;
snps: rs1111125 rs28608091 rs16885577
location: SUBCELLULAR LOCATION: Cell membrane {ECO:0000250}; Multi-pass membrane protein {ECO:0000250}.
name:
Potassium channel subfamily U member 1 (Calcium-activated potassium channel subunit alpha-3) (Calcium-activated potassium channel, subfamily M subunit alpha-3) (KCa5) (Slowpoke homolog 3)

sequence:

opentargets:
integral component of membrane [GO:0016021]; plasma membrane [GO:0005886]; large conductance calcium-activated potassium channel activity [GO:0060072]; outward rectifier potassium channel activity [GO:0015271]; potassium channel activity [GO:0005267]; regulation of ion transmembrane transport [GO:0034765]; regulation of membrane potential [GO:0042391]; reproductive process [GO:0022414]; sperm-egg recognition [GO:0035036]


uniprotID: Q9C0H6
geneSymbol: KLHL4
name: Kelch-like protein 4
length: 718
go: ENSG00000102271;
location: SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton.
sequence:

opentargets:
cytoplasm [GO:0005737]; microtubule cytoskeleton [GO:0015630]; microtubule organizing center [GO:0005815]; actin binding [GO:0003779]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9C0H6-1; Sequence=Displayed; Name=2; Synonyms=KLHL4c; IsoId=Q9C0H6-2; Sequence=VSP_002818; 


uniprotID: O00142
geneSymbol: TK2
reactome: R-HSA-73614;
name: Thymidine kinase 2, mitochondrial (EC 2.7.1.21) (Mt-TK)
length: 265
go: ENSG00000166548;
drug: DB02594;DB04485;DB02452;
location: SUBCELLULAR LOCATION: Mitochondrion.
sequence:

opentargets:
cytoplasm [GO:0005737]; mitochondrial matrix [GO:0005759]; mitochondrion [GO:0005739]; ATP binding [GO:0005524]; deoxycytidine kinase activity [GO:0004137]; deoxynucleoside kinase activity [GO:0019136]; nucleoside kinase activity [GO:0019206]; thymidine kinase activity [GO:0004797]; deoxycytidine metabolic process [GO:0046092]; DNA biosynthetic process [GO:0071897]; nucleobase-containing compound metabolic process [GO:0006139]; pyrimidine nucleoside salvage [GO:0043097]; thymidine metabolic process [GO:0046104]

snps:
rs137854432 rs281865487 rs137854431 rs137854429 rs281865494 rs137886900 rs281865495 rs281865496 rs137854430 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=6;  Name=1; IsoId=O00142-1; Sequence=Displayed; Name=2; IsoId=O00142-2; Sequence=VSP_003028; Note=No experimental confirmation available.; Name=3; IsoId=O00142-3; Sequence=VSP_043503; Note=No experimental confirmation available.; Name=4; IsoId=O00142-4; Sequence=VSP_044459; Note=No experimental confirmation available.; Name=5; IsoId=O00142-5; Sequence=VSP_054606; Note=No experimental confirmation available.; Name=6; IsoId=O00142-6; Sequence=VSP_058694; 


uniprotID: Q9UIH9
geneSymbol: KLF15
reactome: R-HSA-1368108;
pdb: 2ENT;
name: Krueppel-like factor 15 (Kidney-enriched krueppel-like factor)
length: 416
go: ENSG00000163884;
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:10982849, ECO:0000269|PubMed:17438289}.
sequence:

opentargets:
nucleus [GO:0005634]; DNA-binding transcription activator activity, RNA polymerase II-specific [GO:0001228]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; metal ion binding [GO:0046872]; RNA polymerase II proximal promoter sequence-specific DNA binding [GO:0000978]; RNA polymerase II regulatory region sequence-specific DNA binding [GO:0000977]; transcription regulatory region DNA binding [GO:0044212]; cardiac muscle hypertrophy in response to stress [GO:0014898]; glial cell differentiation [GO:0010001]; glomerular visceral epithelial cell differentiation [GO:0072112]; negative regulation of peptidyl-lysine acetylation [GO:2000757]; positive regulation of glucose import in response to insulin stimulus [GO:2001275]; positive regulation of transcription by RNA polymerase II [GO:0045944]; regulation of transcription by RNA polymerase II [GO:0006357]


uniprotID: Q5SVS4
geneSymbol: SLC25A30
name: Kidney mitochondrial carrier protein 1 (Solute carrier family 25 member 30)
length: 291
go: ENSG00000174032;
sequence:

opentargets:
integral component of membrane [GO:0016021]; mitochondrial inner membrane [GO:0005743]; mitochondrion [GO:0005739]; antiporter activity [GO:0015297]; malate transmembrane transporter activity [GO:0015140]; oxaloacetate transmembrane transporter activity [GO:0015131]; succinate transmembrane transporter activity [GO:0015141]; sulfate transmembrane transporter activity [GO:0015116]; thiosulfate transmembrane transporter activity [GO:0015117]; malate transmembrane transport [GO:0071423]; mitochondrial transport [GO:0006839]; oxaloacetate transport [GO:0015729]; phosphate ion transmembrane transport [GO:0035435]; succinate transmembrane transport [GO:0071422]; sulfate transport [GO:0008272]; thiosulfate transport [GO:0015709]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q5SVS4-1; Sequence=Displayed; Name=2; IsoId=Q5SVS4-2; Sequence=VSP_053984; Note=No experimental confirmation available.; 


uniprotID: Q96G42
geneSymbol: KLHDC7B
name: Kelch domain-containing protein 7B
length: 594
go: ENSG00000130487;
sequence:


uniprotID: Q6L8G9
geneSymbol: KRTAP5-6
reactome: R-HSA-6805567;
length: 129
go: ENSG00000205864;
opentargets: cytosol [GO:0005829]; keratin filament [GO:0045095]; keratinization [GO:0031424]
snps: rs58645950
name:
Keratin-associated protein 5-6 (Keratin-associated protein 5.6) (Ultrahigh sulfur keratin-associated protein 5.6)

sequence:
MGCCGCSGGCGSGCGGCGSGCGGCGSSCCVPICCCKPVCCCVPACSCTSCGSCGGSKGCCGSCGGSKGGCGSCGGSKGGCGSCGCSQCSCCKPCYCSSGCGSSCCQSSCCKPCCSQASCCVPICCQCKI


uniprotID: Q8IXV7
geneSymbol: KLHDC8B
name: Kelch domain-containing protein 8B
length: 354
go: ENSG00000185909;
opentargets: cytosol [GO:0005829]; midbody [GO:0030496]; cell cycle [GO:0007049]; cell division [GO:0051301]
sequence:

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:19706467, ECO:0000269|PubMed:20107318}. Midbody {ECO:0000269|PubMed:19706467, ECO:0000269|PubMed:20107318}. Note=In mitotic cells, concentrates in the midbody of the cytoplasmic bridge linking daughter cells as they are about to separate during cytokinesis. {ECO:0000269|PubMed:19706467, ECO:0000269|PubMed:20107318}.


uniprotID: Q9H2R5
geneSymbol: KLK15
name: Kallikrein-15 (EC 3.4.21.-) (ACO protease)
length: 256
go: ENSG00000174562;
snps: rs3212805
location: SUBCELLULAR LOCATION: Secreted {ECO:0000305}.
sequence:

opentargets:
extracellular region [GO:0005576]; secretory granule [GO:0030141]; serine-type endopeptidase activity [GO:0004252]; serine-type peptidase activity [GO:0008236]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=5;  Name=1; IsoId=Q9H2R5-1; Sequence=Displayed; Name=2; IsoId=Q9H2R5-2; Sequence=VSP_005405; 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=Q9H2R5-3; Sequence=VSP_005406, VSP_005407; Name=4; IsoId=Q9H2R5-4; Sequence=VSP_005404; Name=5; IsoId=Q9H2R5-5; Sequence=VSP_054621; Note=No experimental confirmation available.; 


uniprotID: P60329
geneSymbol: KRTAP12-4
reactome: R-HSA-6805567;
length: 112
opentargets: cytosol [GO:0005829]; keratin filament [GO:0045095]; keratinization [GO:0031424]
name:
Keratin-associated protein 12-4 (High sulfur keratin-associated protein 12.4) (Keratin-associated protein 12.4)

sequence:
MCHTSHSSGCPMACPGSPCCVPSTCYPPEGYGTSCCCSAPCVALLCRPLCGVSTCCQPACCVPSPCQVACCVPVSCKPVLCVASFCPTSGCCQPFCPTLVYRPVTWSTPTGC


uniprotID: Q8N3Y3
geneSymbol: LARGE2
reactome: R-HSA-5173105;
length: 721
go: ENSG00000165905;
snps: rs17853729 rs11038713 rs2271851
name:
LARGE xylosyl- and glucuronyltransferase 2 (EC 2.4.-.-) (Glycosyltransferase-like 1B) [Includes: Xylosyltransferase LARGE2 (EC 2.4.2.-); Beta-1,3-glucuronyltransferase LARGE2 (EC 2.4.1.-)]

sequence:

opentargets:
Golgi membrane [GO:0000139]; integral component of membrane [GO:0016021]; glucuronosyltransferase activity [GO:0015020]; manganese ion binding [GO:0030145]; UDP-xylosyltransferase activity [GO:0035252]; xylosyltransferase activity [GO:0042285]; muscle cell cellular homeostasis [GO:0046716]; protein O-linked glycosylation [GO:0006493]; protein O-linked mannosylation [GO:0035269]

location:
SUBCELLULAR LOCATION: Golgi apparatus membrane {ECO:0000269|PubMed:15661757}; Single-pass type II membrane protein {ECO:0000305}.


uniprotID: A0A0C4DH69
geneSymbol: IGKV1-9
name: Immunoglobulin kappa variable 1-9
length: 117
go: ENSG00000241755;
sequence:
MDMRVPAQLLGLLLLWLPGARCDIQLTQSPSFLSASVGDRVTITCRASQGISSYLAWYQQKPGKAPKLLIYAASTLQSGVPSRFSGSGSGTEFTLTISSLQPEDFATYYCQQLNSYP


uniprotID: P60370
geneSymbol: KRTAP10-5
reactome: R-HSA-6805567;
length: 271
snps: rs5017208 rs2020221 rs380585 rs464424 rs7509970 rs464391
name:
Keratin-associated protein 10-5 (High sulfur keratin-associated protein 10.5) (Keratin-associated protein 10.5) (Keratin-associated protein 18-5) (Keratin-associated protein 18.5)

sequence:

opentargets:
cytosol [GO:0005829]; keratin filament [GO:0045095]; identical protein binding [GO:0042802]; keratinization [GO:0031424]


uniprotID: Q3B8N2
geneSymbol: LGALS9B
name: Galectin-9B (Gal-9B) (Galectin-9-like protein A)
length: 356
go: ENSG00000170298;
opentargets: cytosol [GO:0005829]; carbohydrate binding [GO:0030246]
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q3B8N2-1; Sequence=Displayed; Name=2; IsoId=Q3B8N2-2; Sequence=VSP_035176; Note=No experimental confirmation available.; 


uniprotID: Q86Y97
geneSymbol: KMT5C
reactome: R-HSA-3214841;
pdb: 3RQ4;
length: 462
go: ENSG00000133247;
name:
Histone-lysine N-methyltransferase KMT5C (EC 2.1.1.43) (Lysine N-methyltransferase 5C) (Lysine-specific methyltransferase 5C) (Suppressor of variegation 4-20 homolog 2) (Su(var)4-20 homolog 2) (Suv4-20h2)

sequence:

opentargets:
condensed nuclear chromosome, centromeric region [GO:0000780]; nuclear heterochromatin [GO:0005720]; nucleoplasm [GO:0005654]; pericentric heterochromatin [GO:0005721]; histone methyltransferase activity (H4-K20 specific) [GO:0042799]; histone-lysine N-methyltransferase activity [GO:0018024]; histone H4-K20 trimethylation [GO:0034773]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q86Y97-1; Sequence=Displayed; Name=2; IsoId=Q86Y97-2; Sequence=VSP_043947, VSP_043948; Note=No experimental confirmation available. May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.; 

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


uniprotID: Q5T871
geneSymbol: LELP1
reactome: R-HSA-6809371;
name: Late cornified envelope-like proline-rich protein 1 (Novel small proline-rich protein)
sequence: MSSDDKSKSNDPKTEPKNCDPKCEQKCESKCQPSCLKKLLQRCFEKCPWEKCPAPPKCLPCPSQSPSSCPPQPCTKPCPPKCPSSCPHACPPPCPPPE
length: 98
go: ENSG00000203784;
opentargets:
cornified envelope [GO:0001533]; cytoplasm [GO:0005737]; structural molecule activity [GO:0005198]; keratinocyte differentiation [GO:0030216]; peptide cross-linking [GO:0018149]


uniprotID: Q4G0J3
geneSymbol: LARP7
pdb: 4WKR;5KNW;6D12;
length: 582
go: ENSG00000174720;
location: SUBCELLULAR LOCATION: Nucleus, nucleoplasm {ECO:0000269|PubMed:18483487}.
name:
La-related protein 7 (La ribonucleoprotein domain family member 7) (P-TEFb-interaction protein for 7SK stability) (PIP7S)

sequence:

opentargets:
cytosol [GO:0005829]; nucleoplasm [GO:0005654]; ribonucleoprotein complex [GO:1990904]; RNA binding [GO:0003723]; RNA processing [GO:0006396]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q4G0J3-1; Sequence=Displayed; Name=2; IsoId=Q4G0J3-2; Sequence=VSP_024021; Name=3; IsoId=Q4G0J3-3; Sequence=VSP_047390; 


uniprotID: Q96BZ8
geneSymbol: LENG1
name: Leukocyte receptor cluster member 1
length: 264
snps: rs35089861
sequence:


uniprotID: Q9Y6N6
geneSymbol: LAMC3
reactome: R-HSA-3000157;R-HSA-3000171;R-HSA-8874081;
length: 1575
go: ENSG00000050555;
snps: rs571785750 rs869457 rs10901333 rs3739510 rs2275140 rs11244275
location: SUBCELLULAR LOCATION: Secreted, extracellular space, extracellular matrix, basement membrane.
name:
Laminin subunit gamma-3 (Laminin-12 subunit gamma) (Laminin-14 subunit gamma) (Laminin-15 subunit gamma)

sequence:

opentargets:
basement membrane [GO:0005604]; extracellular matrix [GO:0031012]; extracellular region [GO:0005576]; membrane [GO:0016020]; structural molecule activity [GO:0005198]; astrocyte development [GO:0014002]; cell adhesion [GO:0007155]; cell morphogenesis involved in differentiation [GO:0000904]; extracellular matrix organization [GO:0030198]; retina development in camera-type eye [GO:0060041]; visual perception [GO:0007601]


uniprotID: Q8IV20
geneSymbol: LACC1
name: Laccase domain-containing protein 1 (Fatty acid metabolism-immunity nexus)
length: 430
go: ENSG00000179630;
opentargets: peroxisome [GO:0005777]; copper ion binding [GO:0005507]
snps: rs3764147 rs730880295
location: SUBCELLULAR LOCATION: Peroxisome {ECO:0000269|PubMed:27478939}.
sequence:


uniprotID: Q5T754
geneSymbol: LCE1F
reactome: R-HSA-6809371;
name: Late cornified envelope protein 1F (Late envelope protein 6)
length: 118
go: ENSG00000240386;
sequence:
MSCQQSQQQCQPPPKCTPKCPPKCPTPKCPPKCPPKCPPVSSCCSVSSGGCCGSSSGGCCSSGGGGCCSSGGGGCCLSHHRRRRSHRHRPQSSDCCSQPSAGSSCCGGGSGQHSGGCC

opentargets:
cornified envelope [GO:0001533]; cytoplasm [GO:0005737]; structural molecule activity [GO:0005198]; keratinization [GO:0031424]; keratinocyte differentiation [GO:0030216]; peptide cross-linking [GO:0018149]


uniprotID: O76013
geneSymbol: KRT36
reactome: R-HSA-6805567;R-HSA-6809371;
name: Keratin, type I cuticular Ha6 (Hair keratin, type I Ha6) (Keratin-36) (K36)
length: 467
go: ENSG00000126337;
snps: rs8082683 rs8069943 rs9675246 rs9904102 rs2301354 rs11657323
sequence:

opentargets:
cytosol [GO:0005829]; extracellular exosome [GO:0070062]; intermediate filament [GO:0005882]; structural constituent of epidermis [GO:0030280]; cornification [GO:0070268]; keratinization [GO:0031424]; regulation of keratinocyte differentiation [GO:0045616]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=O76013-1; Sequence=Displayed; Name=2; IsoId=O76013-2; Sequence=VSP_036403; Note=No experimental confirmation available.; 


uniprotID: O14960
geneSymbol: LECT2
pdb: 5B0H;
name: Leukocyte cell-derived chemotaxin-2 (LECT-2) (hLECT2)
length: 151
go: ENSG00000145826;
snps: rs31517
sequence:
MFSTKALLLAGLISTALAGPWANICAGKSSNEIRTCDRHGCGQYSAQRSQRPHQGVDILCSAGSTVYAPFTGMIVGQEKPYQNKNAINNGVRISGRGFCVKMFYIKPIKYKGPIKKGEKLGTLLPLQKVYPGIQSHVHIENCDSSDPTAYL

opentargets:
cytoplasm [GO:0005737]; extracellular space [GO:0005615]; identical protein binding [GO:0042802]; metal ion binding [GO:0046872]; chemotaxis [GO:0006935]; skeletal system development [GO:0001501]

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:8877413}. Secreted {ECO:0000269|PubMed:8877413}.


uniprotID: P00709
geneSymbol: LALBA
reactome: R-HSA-5653890;
pdb: 1A4V;1B9O;1CB3;1HML;3B0I;3B0O;4L41;
name: Alpha-lactalbumin (Lactose synthase B protein) (Lysozyme-like protein 7)
length: 142
go: ENSG00000167531;
drug: DB03796;
snps: rs2232565
location: SUBCELLULAR LOCATION: Secreted.
sequence:
MRFFVPLFLVGILFPAILAKQFTKCELSQLLKDIDGYGGIALPELICTMFHTSGYDTQAIVENNESTEYGLFQISNKLWCKSSQVPQSRNICDISCDKFLDDDITDDIMCAKKILDIKGIDYWLAHKALCTEKLEQWLCEKL

opentargets:
extracellular space [GO:0005615]; Golgi lumen [GO:0005796]; Golgi membrane [GO:0000139]; calcium ion binding [GO:0005509]; lactose synthase activity [GO:0004461]; apoptotic process [GO:0006915]; cell-cell signaling [GO:0007267]; defense response to bacterium [GO:0042742]; defense response to Gram-negative bacterium [GO:0050829]; defense response to Gram-positive bacterium [GO:0050830]; lactose biosynthetic process [GO:0005989]; signal transduction [GO:0007165]


uniprotID: Q8IYD9
geneSymbol: LAS2
name: Lung adenoma susceptibility protein 2
length: 372
go: ENSG00000166845;
opentargets: extracellular region [GO:0005576]; negative regulation of cell proliferation [GO:0008285]
snps: rs1657907 rs16958096
location: SUBCELLULAR LOCATION: Secreted {ECO:0000305}.
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q8IYD9-1; Sequence=Displayed; Name=2; IsoId=Q8IYD9-2; Sequence=VSP_015085; 


uniprotID: Q86U44
geneSymbol: METTL3
reactome: R-HSA-72203;
pdb: 5IL0;5IL1;5IL2;5K7M;5K7U;5K7W;5L6D;5L6E;5TEY;5YZ9;
length: 580
go: ENSG00000165819;
name:
N6-adenosine-methyltransferase catalytic subunit (EC 2.1.1.62) (Methyltransferase-like protein 3) (hMETTL3) (N6-adenosine-methyltransferase 70 kDa subunit) (MT-A70)

sequence:

opentargets:
cytoplasm [GO:0005737]; nuclear speck [GO:0016607]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; RNA N6-methyladenosine methyltransferase complex [GO:0036396]; mRNA (2'-O-methyladenosine-N6-)-methyltransferase activity [GO:0016422]; mRNA binding [GO:0003729]; protein heterodimerization activity [GO:0046982]; RNA methyltransferase activity [GO:0008173]; S-adenosyl-L-methionine binding [GO:1904047]; adenosine to inosine editing [GO:0006382]; cellular response to DNA damage stimulus [GO:0006974]; cellular response to UV [GO:0034644]; circadian rhythm [GO:0007623]; dosage compensation by inactivation of X chromosome [GO:0009048]; endothelial to hematopoietic transition [GO:0098508]; forebrain radial glial cell differentiation [GO:0021861]; gliogenesis [GO:0042063]; mRNA catabolic process [GO:0006402]; mRNA destabilization [GO:0061157]; mRNA methylation [GO:0080009]; mRNA processing [GO:0006397]; mRNA splicing, via spliceosome [GO:0000398]; negative regulation of Notch signaling pathway [GO:0045746]; positive regulation of cap-independent translational initiation [GO:1903679]; primary miRNA methylation [GO:1990744]; primary miRNA processing [GO:0031053]; regulation of hematopoietic stem cell differentiation [GO:1902036]; regulation of meiotic cell cycle [GO:0051445]; regulation of T cell differentiation [GO:0045580]; RNA methylation [GO:0001510]; spermatogenesis [GO:0007283]; stem cell population maintenance [GO:0019827]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q86U44-1; Sequence=Displayed; Name=2; IsoId=Q86U44-2; Sequence=VSP_007864, VSP_007865, VSP_007866; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:25719671, ECO:0000269|PubMed:26458103, ECO:0000269|PubMed:27117702, ECO:0000269|PubMed:29348140, ECO:0000269|PubMed:29506078}. Nucleus speckle {ECO:0000269|PubMed:9409616}. Cytoplasm {ECO:0000269|PubMed:27117702}. Note=Colocalizes with speckles in interphase nuclei, suggesting that it may be associated with nuclear pre-mRNA splicing components (PubMed:9409616). In response to ultraviolet irradiation, colocalizes to DNA damage sites however, it probably does not bind DNA but localizes in the vicinity of DNA damage sites (PubMed:28297716). {ECO:0000269|PubMed:28297716, ECO:0000269|PubMed:9409616}.


uniprotID: Q07627
geneSymbol: KRTAP1-1
reactome: R-HSA-6805567;
length: 177
go: ENSG00000188581;
opentargets: cytosol [GO:0005829]; keratin filament [GO:0045095]; keratinization [GO:0031424]
name:
Keratin-associated protein 1-1 (High sulfur keratin-associated protein 1.1) (Keratin-associated protein 1.1) (Keratin-associated protein 1.6) (Keratin-associated protein 1.7)

sequence:
MACCQTSFCGFPSCSTSGTCGSSCCQPSCCETSSCQPRCCETSCCQPSCCQTSFCGFPSFSTGGTCDSSCCQPSCCETSCCQPSCYQTSSCGTGCGIGGGIGYGQEGSSGAVSTRIRWCRPDCRVEGTCLPPCCVVSCTPPSCCQLHHAEASCCRPSYCGQSCCRPVCCCYCSEPTC


uniprotID: Q9BYR9
geneSymbol: KRTAP2-4
reactome: R-HSA-6805567;
length: 128
go: ENSG00000212724;ENSG00000213417;
opentargets: cytosol [GO:0005829]; keratin filament [GO:0045095]; keratinization [GO:0031424]
name:
Keratin-associated protein 2-4 (High sulfur keratin-associated protein 2.4) (Keratin-associated protein 2.4)

sequence:
MTGSCCGSTLSSLSYGGGCCQPCCCRDPCCCRPVTCQTTVCRPVTCVPRCTRPICEPCRRPVCCDPCSLQEGCCRPITCCPSSCTAVVCRPCCWATTCCQPVSVQSPCCRPPCGQPTPCSTTCRTSSC


uniprotID: O75387
geneSymbol: SLC43A1
reactome: R-HSA-352230;
length: 559
go: ENSG00000149150;
snps: rs17151933 rs34746107
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Multi-pass membrane protein {ECO:0000305}.
name:
Large neutral amino acids transporter small subunit 3 (L-type amino acid transporter 3) (Prostate cancer overexpressed gene 1 protein) (Solute carrier family 43 member 1)

sequence:

opentargets:
integral component of plasma membrane [GO:0005887]; 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=2;  Name=1 {ECO:0000269|PubMed:9722952}; Synonyms=2.3kb {ECO:0000303|PubMed:9722952}; IsoId=O75387-1; Sequence=Displayed; Name=2 {ECO:0000269|PubMed:9722952}; Synonyms=5kb {ECO:0000303|PubMed:9722952}; IsoId=O75387-2; Sequence=VSP_051620; 


uniprotID: P06312
geneSymbol: IGKV4-1
pdb: 1DH6;1EEQ;1EEU;1EFQ;1EK3;1LVE;1QAC;2LVE;3LVE;4LVE;5LVE;
length: 121
go: ENSG00000211598;
drug: DB02325;
name:
Immunoglobulin kappa variable 4-1 (Ig kappa chain V-IV region B17) (Ig kappa chain V-IV region JI) (Ig kappa chain V-IV region Len) (Ig kappa chain V-IV region STH)

sequence:
MVLQTQVFISLLLWISGAYGDIVMTQSPDSLAVSLGERATINCKSSQSVLYSSNNKNYLAWYQQKPGQPPKLLIYWASTRESGVPDRFSGSGSGTDFTLTISSLQAEDVAVYYCQQYYSTP

opentargets:
blood microparticle [GO:0072562]; extracellular region [GO:0005576]; extracellular space [GO:0005615]; plasma membrane [GO:0005886]; antigen binding [GO:0003823]; serine-type endopeptidase activity [GO:0004252]; complement activation [GO:0006956]; complement activation, classical pathway [GO:0006958]; Fc-epsilon receptor signaling pathway [GO:0038095]; Fc-gamma receptor signaling pathway involved in phagocytosis [GO:0038096]; immune response [GO:0006955]; immunoglobulin production [GO:0002377]; leukocyte migration [GO:0050900]; receptor-mediated endocytosis [GO:0006898]; regulation of complement activation [GO:0030449]; regulation of immune response [GO:0050776]


uniprotID: P01614
geneSymbol: IGKV2D-40
name: Immunoglobulin kappa variable 2D-40 (Ig kappa chain V-II region Cum)
length: 121
sequence:
MRLPAQLLGLLMLWVPGSSEDIVMTQTPLSLPVTPGEPASISCRSSQSLLDSDDGNTYLDWYLQKPGQSPQLLIYTLSYRASGVPDRFSGSGSGTDFTLKISRVEAEDVGVYYCMQRIEFP

opentargets:
blood microparticle [GO:0072562]; extracellular exosome [GO:0070062]; extracellular region [GO:0005576]; extracellular space [GO:0005615]; plasma membrane [GO:0005886]; antigen binding [GO:0003823]; serine-type endopeptidase activity [GO:0004252]; complement activation [GO:0006956]; complement activation, classical pathway [GO:0006958]; Fc-epsilon receptor signaling pathway [GO:0038095]; Fc-gamma receptor signaling pathway involved in phagocytosis [GO:0038096]; immune response [GO:0006955]; immunoglobulin production [GO:0002377]; leukocyte migration [GO:0050900]; receptor-mediated endocytosis [GO:0006898]; regulation of complement activation [GO:0030449]; regulation of immune response [GO:0050776]


uniprotID: P13473
geneSymbol: LAMP2
reactome: R-HSA-114608;R-HSA-6798695;
pdb: 2MOF;2MOM;
length: 410
go: ENSG00000005893;
snps: rs1043878 rs104894859
name:
Lysosome-associated membrane glycoprotein 2 (LAMP-2) (Lysosome-associated membrane protein 2) (CD107 antigen-like family member B) (LGP-96) (CD antigen CD107b)

sequence:

opentargets:
autolysosome [GO:0044754]; azurophil granule membrane [GO:0035577]; chaperone-mediated autophagy translocation complex [GO:0061742]; extracellular exosome [GO:0070062]; extracellular space [GO:0005615]; ficolin-1-rich granule membrane [GO:0101003]; integral component of autophagosome membrane [GO:0097637]; late endosome [GO:0005770]; late endosome membrane [GO:0031902]; lysosomal lumen [GO:0043202]; lysosomal matrix [GO:1990836]; lysosomal membrane [GO:0005765]; lysosome [GO:0005764]; membrane [GO:0016020]; membrane raft [GO:0045121]; perinuclear region of cytoplasm [GO:0048471]; phagocytic vesicle membrane [GO:0030670]; plasma membrane [GO:0005886]; platelet dense granule membrane [GO:0031088]; trans-Golgi network [GO:0005802]; enzyme binding [GO:0019899]; protein domain specific binding [GO:0019904]; autophagosome maturation [GO:0097352]; cellular response to starvation [GO:0009267]; chaperone-mediated autophagy [GO:0061684]; lysosomal protein catabolic process [GO:1905146]; muscle cell cellular homeostasis [GO:0046716]; negative regulation of protein homooligomerization [GO:0032463]; neutrophil degranulation [GO:0043312]; platelet degranulation [GO:0002576]; protein import [GO:0017038]; protein stabilization [GO:0050821]; protein targeting [GO:0006605]; protein targeting to lysosome involved in chaperone-mediated autophagy [GO:0061740]; regulation of protein stability [GO:0031647]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=LAMP-2A; IsoId=P13473-1; Sequence=Displayed; Name=LAMP-2B; IsoId=P13473-2; Sequence=VSP_003044; Name=LAMP-2C; IsoId=P13473-3; Sequence=VSP_042519; 

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:17897319, ECO:0000269|PubMed:2912382}; Single-pass type I membrane protein {ECO:0000255|PROSITE-ProRule:PRU00740, ECO:0000269|PubMed:17897319}. Endosome membrane {ECO:0000269|PubMed:17897319}; Single-pass type I membrane protein {ECO:0000255|PROSITE-ProRule:PRU00740, ECO:0000269|PubMed:17897319}. Lysosome membrane {ECO:0000255|PROSITE-ProRule:PRU00740, ECO:0000269|PubMed:11082038, ECO:0000269|PubMed:17897319, ECO:0000269|PubMed:18644871, ECO:0000269|PubMed:2912382}; Single-pass type I membrane protein {ECO:0000255|PROSITE-ProRule:PRU00740, ECO:0000269|PubMed:17897319}. Cytoplasmic vesicle, autophagosome membrane {ECO:0000250|UniProtKB:P17047}. Note=This protein shuttles between lysosomes, endosomes, and the plasma membrane.


uniprotID: Q701N4
geneSymbol: KRTAP5-2
reactome: R-HSA-6805567;
length: 177
go: ENSG00000205867;
opentargets: cytosol [GO:0005829]; keratin filament [GO:0045095]; keratinization [GO:0031424]
drug: DB02379;DB03088;
name:
Keratin-associated protein 5-2 (Keratin-associated protein 5-8) (Keratin-associated protein 5.2) (Keratin-associated protein 5.8) (Ultrahigh sulfur keratin-associated protein 5.2)

sequence:
MGCCGCSRGCGSGCGGCGSSCGGCGSGCGGCGSGRGGCGSGCGGCSSSCGGCGSRCYVPVCCCKPVCSWVPACSCTSCGSCGGSKGGCGSCGGSKGGCGSCGGSKGGCGSCGCSQSSCCKPCCCSSGCGSSCCQSSCCKPCCCQSSCCVPVCCQSSCCKPCCCQSNCCVPVCCQCKI


uniprotID: P08254
geneSymbol: MMP3
reactome: R-HSA-1442490;R-HSA-1474228;R-HSA-1592389;R-HSA-2022090;R-HSA-2179392;R-HSA-6785807;
name: Stromelysin-1 (SL-1) (EC 3.4.24.17) (Matrix metalloproteinase-3) (MMP-3) (Transin-1)
length: 477
go: ENSG00000149968;
snps: rs679620
location: SUBCELLULAR LOCATION: Secreted, extracellular space, extracellular matrix {ECO:0000305}.
pdb:
1B3D;1B8Y;1BIW;1BM6;1BQO;1C3I;1C8T;1CAQ;1CIZ;1CQR;1D5J;1D7X;1D8F;1D8M;1G05;1G49;1G4K;1HFS;1HY7;1M1W;1OO9;1QIA;1QIC;1SLM;1SLN;1UEA;1UMS;1UMT;1USN;2D1O;2JNP;2JT5;2JT6;2SRT;2USN;3OHL;3OHO;3USN;4DPE;4G9L;4JA1;

sequence:

opentargets:
extracellular matrix [GO:0031012]; extracellular region [GO:0005576]; extracellular space [GO:0005615]; endopeptidase activity [GO:0004175]; metalloendopeptidase activity [GO:0004222]; metallopeptidase activity [GO:0008237]; serine-type endopeptidase activity [GO:0004252]; zinc ion binding [GO:0008270]; cellular response to nitric oxide [GO:0071732]; collagen catabolic process [GO:0030574]; cytokine-mediated signaling pathway [GO:0019221]; extracellular matrix disassembly [GO:0022617]; negative regulation of hydrogen peroxide metabolic process [GO:0010727]; positive regulation of oxidative stress-induced cell death [GO:1903209]; positive regulation of protein oligomerization [GO:0032461]; proteolysis [GO:0006508]; regulation of neuroinflammatory response [GO:0150077]

drug:
DB02367;DB04140;DB03033;DB08643;DB02449;DB08030;DB01996;DB07986;DB02090;DB02697;DB00786;DB08507;DB04232;DB08271;DB08029;


uniprotID: Q9H8L6
geneSymbol: MMRN2
length: 949
go: ENSG00000173269;
snps: rs3750823 rs748531029 rs4934281 rs36073867 rs34587013
name:
Multimerin-2 (EMILIN-3) (Elastin microfibril interface located protein 3) (Elastin microfibril interfacer 3) (EndoGlyx-1 p125/p140 subunit)

sequence:

opentargets:
basement membrane [GO:0005604]; collagen-containing extracellular matrix [GO:0062023]; extracellular exosome [GO:0070062]; extracellular matrix [GO:0031012]; extracellular space [GO:0005615]; extracellular matrix structural constituent [GO:0005201]; cell migration involved in sprouting angiogenesis [GO:0002042]; negative regulation of cell migration involved in sprouting angiogenesis [GO:0090051]; negative regulation of vascular endothelial growth factor receptor signaling pathway [GO:0030948]; positive regulation of cell-substrate adhesion [GO:0010811]

location:
SUBCELLULAR LOCATION: Secreted, extracellular space, extracellular matrix {ECO:0000269|PubMed:11559704}.


uniprotID: P24347
geneSymbol: MMP11
reactome: R-HSA-1442490;R-HSA-1474228;R-HSA-1592389;
name: Stromelysin-3 (SL-3) (ST3) (EC 3.4.24.-) (Matrix metalloproteinase-11) (MMP-11)
length: 488
go: ENSG00000099953;
drug: DB04318;DB00786;
snps: rs738792 rs28363646 rs28363647 rs28363648 rs17854940
location: SUBCELLULAR LOCATION: Secreted, extracellular space, extracellular matrix {ECO:0000305}.
sequence:

opentargets:
extracellular matrix [GO:0031012]; extracellular region [GO:0005576]; Golgi lumen [GO:0005796]; metalloendopeptidase activity [GO:0004222]; serine-type endopeptidase activity [GO:0004252]; zinc ion binding [GO:0008270]; basement membrane organization [GO:0071711]; collagen catabolic process [GO:0030574]; collagen fibril organization [GO:0030199]; extracellular matrix disassembly [GO:0022617]; multicellular organism development [GO:0007275]; negative regulation of fat cell differentiation [GO:0045599]; proteolysis [GO:0006508]


uniprotID: P39900
geneSymbol: MMP12
reactome: R-HSA-1442490;R-HSA-1474228;
length: 470
go: ENSG00000262406;
snps: rs652438 rs28381701
location: SUBCELLULAR LOCATION: Secreted, extracellular space, extracellular matrix {ECO:0000305}.
pdb:
1JIZ;1JK3;1OS2;1OS9;1RMZ;1ROS;1UTT;1UTZ;1Y93;1YCM;1Z3J;2HU6;2JXY;2K2G;2K9C;2KRJ;2MLR;2MLS;2N8R;2OXU;2OXW;2OXZ;2POJ;2W0D;2WO8;2WO9;2WOA;2Z2D;3BA0;3EHX;3EHY;3F15;3F16;3F17;3F18;3F19;3F1A;3LIK;3LIL;3LIR;3LJG;3LK8;3LKA;3N2U;3N2V;3NX7;3RTS;3RTT;3TS4;3TSK;3UVC;4EFS;4GQL;4GR0;4GR3;4GR8;4GUY;4H30;4H49;4H76;4H84;4I03;4IJO;5CXA;5CZM;5D2B;5D3C;5I0L;5I2Z;5I3M;5I43;5I4O;5L79;5L7F;5LAB;5N5J;5N5K;6EKN;6ELA;6ENM;6EOX;

name:
Macrophage metalloelastase (MME) (EC 3.4.24.65) (Macrophage elastase) (ME) (hME) (Matrix metalloproteinase-12) (MMP-12)

sequence:

opentargets:
cytoplasm [GO:0005737]; extracellular matrix [GO:0031012]; extracellular region [GO:0005576]; extracellular space [GO:0005615]; nucleus [GO:0005634]; calcium ion binding [GO:0005509]; collagen binding [GO:0005518]; core promoter binding [GO:0001047]; endopeptidase activity [GO:0004175]; metalloendopeptidase activity [GO:0004222]; sequence-specific DNA binding [GO:0043565]; serine-type endopeptidase activity [GO:0004252]; zinc ion binding [GO:0008270]; cellular response to virus [GO:0098586]; collagen catabolic process [GO:0030574]; elastin catabolic process [GO:0060309]; extracellular matrix disassembly [GO:0022617]; negative regulation of endothelial cell-matrix adhesion via fibronectin [GO:1904905]; negative regulation of transcription by RNA polymerase II [GO:0000122]; negative regulation of type I interferon-mediated signaling pathway [GO:0060339]; positive regulation of epithelial cell proliferation involved in wound healing [GO:0060054]; positive regulation of interferon-alpha secretion [GO:1902741]; positive regulation of transcription by RNA polymerase II [GO:0045944]; positive regulation of type I interferon-mediated signaling pathway [GO:0060340]; protein import into nucleus [GO:0006606]; proteolysis [GO:0006508]; regulation of defense response to virus by host [GO:0050691]; wound healing, spreading of epidermal cells [GO:0035313]

drug:
DB07921;DB00551;DB05387;DB03880;DB02118;DB00786;DB07446;DB08599;DB07556;DB08271;DB07922;DB07920;DB03367;


uniprotID: Q8TE76
geneSymbol: MORC4
length: 937
go: ENSG00000133131;
opentargets: nucleoplasm [GO:0005654]; zinc ion binding [GO:0008270]
snps: rs6622126 rs3827464
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000305|PubMed:17608765}.
name:
MORC family CW-type zinc finger protein 4 (Zinc finger CW-type coiled-coil domain protein 2) (Zinc finger CW-type domain protein 4)

sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q8TE76-1; Sequence=Displayed; Name=2; IsoId=Q8TE76-2; Sequence=VSP_045025, VSP_045026; Name=3; IsoId=Q8TE76-3; Sequence=VSP_045026; 


uniprotID: Q13724
geneSymbol: MOGS
reactome: R-HSA-4793954;R-HSA-532668;
name: Mannosyl-oligosaccharide glucosidase (EC 3.2.1.106) (Processing A-glucosidase I)
length: 837
go: ENSG00000115275;
snps: rs3213671 rs1063587 rs1063588 rs2268416 rs121909291 rs34075781 rs121909292 rs35533773
location: SUBCELLULAR LOCATION: Endoplasmic reticulum membrane; Single-pass type II membrane protein.
sequence:

opentargets:
endoplasmic reticulum [GO:0005783]; endoplasmic reticulum membrane [GO:0005789]; extracellular exosome [GO:0070062]; integral component of membrane [GO:0016021]; membrane [GO:0016020]; glucosidase activity [GO:0015926]; mannosyl-oligosaccharide glucosidase activity [GO:0004573]; oligosaccharide metabolic process [GO:0009311]; protein folding [GO:0006457]; protein N-linked glycosylation [GO:0006487]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q13724-1; Sequence=Displayed; Name=2; IsoId=Q13724-2; Sequence=VSP_046921; Note=Gene prediction based on EST data.; 


uniprotID: P49321
geneSymbol: NASP
name: Nuclear autoantigenic sperm protein (NASP)
length: 788
go: ENSG00000132780;
snps: rs34618000
sequence:

opentargets:
cytoplasm [GO:0005737]; nuclear chromatin [GO:0000790]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; protein-containing complex [GO:0032991]; histone binding [GO:0042393]; protein-containing complex binding [GO:0044877]; blastocyst development [GO:0001824]; cell proliferation [GO:0008283]; CENP-A containing nucleosome assembly [GO:0034080]; DNA replication [GO:0006260]; DNA replication-dependent nucleosome assembly [GO:0006335]; DNA replication-independent nucleosome assembly [GO:0006336]; G1/S transition of mitotic cell cycle [GO:0000082]; histone exchange [GO:0043486]; male gonad development [GO:0008584]; nucleosome assembly [GO:0006334]; protein transport [GO:0015031]; response to testosterone [GO:0033574]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=P49321-1; Sequence=Displayed; Name=2; IsoId=P49321-2; Sequence=VSP_006551; Name=3; IsoId=P49321-3; Sequence=VSP_036616; Name=4; IsoId=P49321-4; Sequence=VSP_047028; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250|UniProtKB:Q99MD9}. Nucleus {ECO:0000250|UniProtKB:Q99MD9}.


uniprotID: Q7RTY0
geneSymbol: SLC16A13
name: Monocarboxylate transporter 13 (MCT 13) (Solute carrier family 16 member 13)
length: 426
go: ENSG00000174327;
sequence:

opentargets:
Golgi apparatus [GO:0005794]; Golgi membrane [GO:0000139]; integral component of plasma membrane [GO:0005887]; monocarboxylic acid transmembrane transporter activity [GO:0008028]; symporter activity [GO:0015293]; monocarboxylic acid transport [GO:0015718]

location:
SUBCELLULAR LOCATION: Golgi apparatus membrane {ECO:0000269|PubMed:24390345}; Multi-pass membrane protein {ECO:0000269|PubMed:24390345}. Cell membrane {ECO:0000255}; Multi-pass membrane protein {ECO:0000255}.


uniprotID: Q9UBU8
geneSymbol: MORF4L1
reactome: R-HSA-3214847;
pdb: 2AQL;2EFI;2F5J;2F5K;2LKM;2N1D;
length: 362
go: ENSG00000185787;
location: SUBCELLULAR LOCATION: Nucleus.
name:
Mortality factor 4-like protein 1 (MORF-related gene 15 protein) (Protein MSL3-1) (Transcription factor-like protein MRG15)

sequence:

opentargets:
histone acetyltransferase complex [GO:0000123]; NuA4 histone acetyltransferase complex [GO:0035267]; nuclear speck [GO:0016607]; nucleoplasm [GO:0005654]; Sin3 complex [GO:0016580]; chromatin binding [GO:0003682]; protein N-terminus binding [GO:0047485]; cell proliferation [GO:0008283]; chromatin silencing [GO:0006342]; double-strand break repair via homologous recombination [GO:0000724]; histone acetylation [GO:0016573]; histone deacetylation [GO:0016575]; histone H2A acetylation [GO:0043968]; histone H4 acetylation [GO:0043967]; regulation of growth [GO:0040008]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q9UBU8-1; Sequence=Displayed; Name=2; IsoId=Q9UBU8-2; Sequence=VSP_012889; Name=3; IsoId=Q9UBU8-3; Sequence=VSP_046016; 


uniprotID: Q8NDC4
geneSymbol: MORN4
name: MORN repeat-containing protein 4 (Protein 44050) (Retinophilin)
length: 146
go: ENSG00000171160;
sequence:
MTLTKGSFTYSSGEEYRGEWKEGRRHGFGQLMFADGGTYLGHFENGLFNGFGVLTFSDGSRYEGEFAQGKFNGVGVFIRYDNMTFEGEFKNGRVDGFGLLTFPDGSHGIPRNEGLFENNKLLRREKCSAIVQRAQSASKSARNLTA

opentargets:
cytoplasm [GO:0005737]; filopodium tip [GO:0032433]; stereocilium tip [GO:0032426]; response to axon injury [GO:0048678]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q8NDC4-1; Sequence=Displayed; Name=2; IsoId=Q8NDC4-2; Sequence=VSP_023457; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:25822849}. Cell projection, filopodium tip {ECO:0000269|PubMed:25822849}. Cell projection, stereocilium {ECO:0000250|UniProtKB:Q6PGF2}. Note=Found in the cytoplasm in the absence of MYO3A and localizes at filopodial tips in the presence of MYO3A. {ECO:0000269|PubMed:25822849}.


uniprotID: Q8N5Y2
geneSymbol: MSL3
reactome: R-HSA-3214847;
pdb: 2Y0N;3OA6;3OB9;
length: 521
go: ENSG00000005302;
snps: rs150938844 rs1051595
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000305}.
name:
Male-specific lethal 3 homolog (Male-specific lethal-3 homolog 1) (Male-specific lethal-3 protein-like 1) (MSL3-like 1)

sequence:

opentargets:
histone acetyltransferase complex [GO:0000123]; MSL complex [GO:0072487]; NuA4 histone acetyltransferase complex [GO:0035267]; nucleoplasm [GO:0005654]; DNA binding [GO:0003677]; methylated histone binding [GO:0035064]; chromatin silencing [GO:0006342]; histone acetylation [GO:0016573]; histone deacetylation [GO:0016575]; histone H2A acetylation [GO:0043968]; histone H4 acetylation [GO:0043967]; histone H4-K16 acetylation [GO:0043984]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=6;  Name=1; IsoId=Q8N5Y2-1; Sequence=Displayed; Name=2; IsoId=Q8N5Y2-2; Sequence=VSP_007636, VSP_007637; Note=Based on similarity to mouse ortholog. No experimental confirmation available. {ECO:0000305}; Name=3; IsoId=Q8N5Y2-3; Sequence=VSP_043342; Note=No experimental confirmation available.; Name=4; IsoId=Q8N5Y2-4; Sequence=VSP_045652; Note=No experimental confirmation available.; Name=5; IsoId=Q8N5Y2-5; Sequence=VSP_045653, VSP_045654; Note=No experimental confirmation available.; Name=6; IsoId=Q8N5Y2-6; Sequence=VSP_055376, VSP_055377; Note=No experimental confirmation available.; 


uniprotID: Q96HJ5
geneSymbol: MS4A3
reactome: R-HSA-6798695;
length: 214
go: ENSG00000149516;
name:
Membrane-spanning 4-domains subfamily A member 3 (CD20 antigen-like protein) (Hematopoietic-specific transmembrane protein 4) (HTm4)

sequence:

opentargets:
integral component of membrane [GO:0016021]; perinuclear region of cytoplasm [GO:0048471]; plasma membrane [GO:0005886]; specific granule membrane [GO:0035579]; neutrophil degranulation [GO:0043312]; regulation of cell cycle [GO:0051726]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q96HJ5-1; Sequence=Displayed; Name=2; IsoId=Q96HJ5-2; Sequence=VSP_007109; Name=3; IsoId=Q96HJ5-3; Sequence=VSP_045798; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Endomembrane system {ECO:0000250}; Multi-pass membrane protein {ECO:0000250}. Cytoplasm, perinuclear region {ECO:0000250}. Note=Located in the perinuclear area.


uniprotID: Q7L1V2
geneSymbol: MON1B
reactome: R-HSA-8876198;
length: 547
go: ENSG00000103111;
name:
Vacuolar fusion protein MON1 homolog B (HSV-1 stimulation-related gene 1 protein) (HSV-I stimulating-related protein)

sequence:

opentargets:
cytoplasm [GO:0005737]; Mon1-Ccz1 complex [GO:0035658]; early viral transcription [GO:0019085]; late viral transcription [GO:0019086]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q7L1V2-1; Sequence=Displayed; Name=2; IsoId=Q7L1V2-2; Sequence=VSP_054664, VSP_054665; Note=No experimental confirmation available.; 


uniprotID: Q2KHM9
geneSymbol: KIAA0753
name: Protein moonraker (MNR) (OFD1- and FOPNL-interacting protein)
length: 967
go: ENSG00000198920;
snps: rs16955985 rs9889363 rs17794522 rs2289643 rs2289642 rs11868877 rs2304977 rs1443417
sequence:

opentargets:
centriolar satellite [GO:0034451]; centriole [GO:0005814]; centrosome [GO:0005813]; cytosol [GO:0005829]; centriole replication [GO:0007099]; protein localization to centrosome [GO:0071539]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q2KHM9-1; Sequence=Displayed; Name=2; IsoId=Q2KHM9-2; Sequence=VSP_023539; 

location:
SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton, microtubule organizing center, centrosome, centriole {ECO:0000269|PubMed:26643951}. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome, centriolar satellite {ECO:0000269|PubMed:24613305, ECO:0000269|PubMed:26297806, ECO:0000269|PubMed:26643951}. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome {ECO:0000269|PubMed:26643951}. Note=Localization to centrioles and pericentriolar satellites may be mediated by interaction with PCM1. {ECO:0000269|PubMed:26643951}.


uniprotID: Q7RTY1
geneSymbol: SLC16A9
name: Monocarboxylate transporter 9 (MCT 9) (Solute carrier family 16 member 9)
length: 509
go: ENSG00000165449;
snps: rs56370926 rs2242206 rs11006655
location: SUBCELLULAR LOCATION: Cell membrane {ECO:0000250}; Multi-pass membrane protein {ECO:0000250}.
sequence:

opentargets:
integral component of plasma membrane [GO:0005887]; monocarboxylic acid transmembrane transporter activity [GO:0008028]; symporter activity [GO:0015293]; monocarboxylic acid transport [GO:0015718]; urate metabolic process [GO:0046415]


uniprotID: P34949
geneSymbol: MPI
reactome: R-HSA-4043916;R-HSA-446205;
name: Mannose-6-phosphate isomerase (EC 5.3.1.8) (Phosphohexomutase) (Phosphomannose isomerase) (PMI)
length: 423
go: ENSG00000178802;
location: SUBCELLULAR LOCATION: Cytoplasm {ECO:0000305}.
sequence:

opentargets:
cytosol [GO:0005829]; extracellular exosome [GO:0070062]; mannose-6-phosphate isomerase activity [GO:0004476]; zinc ion binding [GO:0008270]; cell wall mannoprotein biosynthetic process [GO:0000032]; GDP-mannose biosynthetic process [GO:0009298]; mannose to fructose-6-phosphate metabolic process [GO:0061611]; protein glycosylation [GO:0006486]

snps:
rs764835081 rs104894494 rs887249336 rs566620411 rs104894495 rs773678732 rs766458792 rs104894489 rs748090636 rs28928906 rs369326210 rs863225087 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P34949-1; Sequence=Displayed; Name=2; IsoId=P34949-2; Sequence=VSP_013357; Note=No experimental confirmation available.; 


uniprotID: O00566
geneSymbol: MPHOSPH10
reactome: R-HSA-6790901;R-HSA-6791226;
name: U3 small nucleolar ribonucleoprotein protein MPP10 (M phase phosphoprotein 10)
length: 681
go: ENSG00000124383;
snps: rs10199088 rs13010513 rs10175940 rs1813160 rs3732240 rs6574 rs4852764
sequence:

opentargets:
chromosome [GO:0005694]; Mpp10 complex [GO:0034457]; nucleolus [GO:0005730]; nucleoplasm [GO:0005654]; small nucleolar ribonucleoprotein complex [GO:0005732]; small-subunit processome [GO:0032040]; RNA binding [GO:0003723]; negative regulation of phosphatase activity [GO:0010923]; RNA processing [GO:0006396]; RNA splicing [GO:0008380]; RNA splicing, via transesterification reactions [GO:0000375]; rRNA processing [GO:0006364]

location:
SUBCELLULAR LOCATION: Nucleus, nucleolus {ECO:0000269|PubMed:12429849, ECO:0000269|PubMed:12655004, ECO:0000269|PubMed:9450966}. Chromosome {ECO:0000269|PubMed:9450966}. Note=Fibrillar region of the nucleolus (PubMed:9450966). After dissolution of the nucleolus in early M phase becomes associated with chromosomes through metaphase and anaphase (PubMed:9450966). In telophase localized to small cellular prenucleolar bodies that not always contain fibrillarin (PubMed:9450966). The reassociation with nucleolus is preceeded by the arrival of fibrillarin (PubMed:9450966). {ECO:0000269|PubMed:9450966}.


uniprotID: Q15777
geneSymbol: MPPED2
length: 294
go: ENSG00000066382;
snps: rs11556749
name:
Metallophosphoesterase MPPED2 (EC 3.1.-.-) (Fetal brain protein 239) (239FB) (Metallophosphoesterase domain-containing protein 2)

sequence:

opentargets:
hydrolase activity [GO:0016787]; metal ion binding [GO:0046872]; nervous system development [GO:0007399]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q15777-1; Sequence=Displayed; Name=2; IsoId=Q15777-2; Sequence=VSP_045627; Note=No experimental confirmation available.; 


uniprotID: Q6Q8B3
geneSymbol: CD200R1L
length: 271
go: ENSG00000206531;
snps: rs4682119
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Single-pass type I membrane protein {ECO:0000305}.
name:
Cell surface glycoprotein CD200 receptor 2 (CD200 cell surface glycoprotein receptor-like 2) (CD200 receptor-like 2) (HuCD200R2) (CD200 cell surface glycoprotein receptor-like a) (CD200RLa) (Cell surface glycoprotein CD200 receptor 1-like) (Cell surface glycoprotein OX2 receptor 2)

sequence:

opentargets:
external side of plasma membrane [GO:0009897]; integral component of membrane [GO:0016021]; signaling receptor activity [GO:0038023]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q6Q8B3-1; Sequence=Displayed; Name=2; IsoId=Q6Q8B3-2; Sequence=VSP_035002; 


uniprotID: Q99583
geneSymbol: MNT
length: 582
go: ENSG00000070444;
snps: rs7207965
location: SUBCELLULAR LOCATION: Nucleus.
name:
Max-binding protein MNT (Class D basic helix-loop-helix protein 3) (bHLHd3) (Myc antagonist MNT) (Protein ROX)

sequence:

opentargets:
nucleoplasm [GO:0005654]; nucleus [GO:0005634]; chromatin binding [GO:0003682]; DNA-binding transcription factor activity [GO:0003700]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; DNA-binding transcription repressor activity, RNA polymerase II-specific [GO:0001227]; protein dimerization activity [GO:0046983]; RNA polymerase II regulatory region sequence-specific DNA binding [GO:0000977]; transcription coactivator activity [GO:0003713]; transcription corepressor activity [GO:0003714]; cell aging [GO:0007569]; multicellular organism development [GO:0007275]; negative regulation of apoptotic signaling pathway [GO:2001234]; negative regulation of cell proliferation [GO:0008285]; negative regulation of transcription by RNA polymerase II [GO:0000122]; regulation of cell cycle [GO:0051726]; transcription by RNA polymerase II [GO:0006366]


uniprotID: Q8NCK7
geneSymbol: SLC16A11
name: Monocarboxylate transporter 11 (MCT 11) (Solute carrier family 16 member 11)
length: 471
go: ENSG00000174326;
snps: rs117767867 rs13342692 rs75418188 rs75493593
sequence:

opentargets:
endoplasmic reticulum membrane [GO:0005789]; integral component of plasma membrane [GO:0005887]; plasma membrane [GO:0005886]; monocarboxylic acid transmembrane transporter activity [GO:0008028]; pyruvate transmembrane transporter activity [GO:0050833]; symporter activity [GO:0015293]; lipid metabolic process [GO:0006629]; monocarboxylic acid transport [GO:0015718]

location:
SUBCELLULAR LOCATION: Endoplasmic reticulum membrane {ECO:0000269|PubMed:24390345}; Multi-pass membrane protein {ECO:0000255}. Cell membrane {ECO:0000269|PubMed:28666119}; Multi-pass membrane protein {ECO:0000255}.


uniprotID: Q5T2T1
geneSymbol: MPP7
pdb: 3LRA;3O46;
name: MAGUK p55 subfamily member 7
length: 576
go: ENSG00000150054;
snps: rs2997211
sequence:

opentargets:
adherens junction [GO:0005912]; bicellular tight junction [GO:0005923]; cell junction [GO:0030054]; MPP7-DLG1-LIN7 complex [GO:0097025]; nucleoplasm [GO:0005654]; cadherin binding [GO:0045296]; protein domain specific binding [GO:0019904]; protein heterodimerization activity [GO:0046982]; protein-containing complex scaffold activity [GO:0032947]; signaling adaptor activity [GO:0035591]; bicellular tight junction assembly [GO:0070830]; establishment of cell polarity [GO:0030010]; positive regulation of protein complex assembly [GO:0031334]; protein localization to adherens junction [GO:0071896]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q5T2T1-1; Sequence=Displayed; Name=2; IsoId=Q5T2T1-2; Sequence=VSP_056065, VSP_056066, VSP_056067; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Membrane; Peripheral membrane protein. Cell junction, tight junction. Cell junction, adherens junction.


uniprotID: Q6UWV2
geneSymbol: MPZL3
name: Myelin protein zero-like protein 3
length: 235
go: ENSG00000160588;
snps: rs17121966 rs36102742 rs34507994 rs7105729
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Single-pass type I membrane protein {ECO:0000305}.
sequence:

opentargets:
integral component of membrane [GO:0016021]; cell adhesion [GO:0007155]; extracellular matrix organization [GO:0030198]; hair cycle [GO:0042633]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q6UWV2-1; Sequence=Displayed; Name=2; IsoId=Q6UWV2-2; Sequence=VSP_053988; Note=No experimental confirmation available.; Name=3; IsoId=Q6UWV2-3; Sequence=VSP_055324, VSP_055325; Note=No experimental confirmation available.; 


uniprotID: Q8N9F0
geneSymbol: NAT8L
reactome: R-HSA-70614;
length: 302
go: ENSG00000185818;
name:
N-acetylaspartate synthetase (NAA synthetase) (EC 2.3.1.17) (Camello-like protein 3) (N-acetyltransferase 8-like protein)

sequence:

opentargets:
cytoplasm [GO:0005737]; integral component of membrane [GO:0016021]; mitochondrial matrix [GO:0005759]; mitochondrial membrane [GO:0031966]; mitochondrion [GO:0005739]; rough endoplasmic reticulum membrane [GO:0030867]; aspartate N-acetyltransferase activity [GO:0017188]; cellular amino acid biosynthetic process [GO:0008652]

location:
SUBCELLULAR LOCATION: Cytoplasm. Membrane {ECO:0000305}; Single-pass membrane protein {ECO:0000305}. Microsome membrane {ECO:0000250}; Single-pass membrane protein {ECO:0000250}. Mitochondrion membrane; Single-pass membrane protein. Rough endoplasmic reticulum membrane {ECO:0000250}; Single-pass membrane protein {ECO:0000250}. Note=Its enzymatic activity contribution is quantitatively larger in mitochondrial compartment than in extramitochondrial compartment.


uniprotID: Q02750
geneSymbol: MAP2K1
length: 393
go: ENSG00000169032;
drug: DB06616;DB05239;DB02152;DB08911;
snps: rs121908594 rs730880508 rs121908595
reactome:
R-HSA-110056;R-HSA-445144;R-HSA-5210891;R-HSA-5673000;R-HSA-5674135;R-HSA-5674499;R-HSA-5684264;R-HSA-6802946;R-HSA-6802948;R-HSA-6802949;R-HSA-6802952;R-HSA-6802955;

pdb:
1S9J;2P55;3DV3;3DY7;3E8N;3EQB;3EQC;3EQD;3EQF;3EQG;3EQH;3EQI;3MBL;3ORN;3OS3;3PP1;3SLS;3V01;3V04;3VVH;3W8Q;3WIG;3ZLS;3ZLW;3ZLX;3ZLY;3ZM4;4AN2;4AN3;4AN9;4ANB;4ARK;4LMN;4MNE;4U7Z;4U80;4U81;5BX0;5EYM;5HZE;

name:
Dual specificity mitogen-activated protein kinase kinase 1 (MAP kinase kinase 1) (MAPKK 1) (MKK1) (EC 2.7.12.2) (ERK activator kinase 1) (MAPK/ERK kinase 1) (MEK 1)

sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; early endosome [GO:0005769]; endoplasmic reticulum [GO:0005783]; focal adhesion [GO:0005925]; Golgi apparatus [GO:0005794]; late endosome [GO:0005770]; microtubule organizing center [GO:0005815]; mitochondrion [GO:0005739]; nucleus [GO:0005634]; plasma membrane [GO:0005886]; ATP binding [GO:0005524]; MAP kinase kinase activity [GO:0004708]; protein C-terminus binding [GO:0008022]; protein kinase activity [GO:0004672]; protein N-terminus binding [GO:0047485]; protein serine/threonine kinase activator activity [GO:0043539]; protein serine/threonine kinase activity [GO:0004674]; protein serine/threonine/tyrosine kinase activity [GO:0004712]; protein tyrosine kinase activity [GO:0004713]; scaffold protein binding [GO:0097110]; activation of MAPK activity [GO:0000187]; activation of protein kinase activity [GO:0032147]; Bergmann glial cell differentiation [GO:0060020]; cell cycle arrest [GO:0007050]; cell motility [GO:0048870]; cellular senescence [GO:0090398]; cerebellar cortex formation [GO:0021697]; chemotaxis [GO:0006935]; epithelial cell proliferation involved in lung morphogenesis [GO:0060502]; ERK1 and ERK2 cascade [GO:0070371]; face development [GO:0060324]; heart development [GO:0007507]; keratinocyte differentiation [GO:0030216]; labyrinthine layer development [GO:0060711]; MAPK cascade [GO:0000165]; negative regulation of cell proliferation [GO:0008285]; negative regulation of gene expression [GO:0010629]; neuron differentiation [GO:0030182]; peptidyl-threonine phosphorylation [GO:0018107]; placenta blood vessel development [GO:0060674]; positive regulation of axonogenesis [GO:0050772]; positive regulation of ERK1 and ERK2 cascade [GO:0070374]; positive regulation of gene expression [GO:0010628]; positive regulation of production of miRNAs involved in gene silencing by miRNA [GO:1903800]; positive regulation of protein serine/threonine kinase activity [GO:0071902]; positive regulation of transcription, DNA-templated [GO:0045893]; protein phosphorylation [GO:0006468]; regulation of axon regeneration [GO:0048679]; regulation of early endosome to late endosome transport [GO:2000641]; regulation of Golgi inheritance [GO:0090170]; regulation of stress-activated MAPK cascade [GO:0032872]; signal transduction [GO:0007165]; signal transduction by protein phosphorylation [GO:0023014]; stress-activated protein kinase signaling cascade [GO:0031098]; thymus development [GO:0048538]; thyroid gland development [GO:0030878]; trachea formation [GO:0060440]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; Synonyms=MKK1a; IsoId=Q02750-1; Sequence=Displayed; Name=2; Synonyms=MKK1b; IsoId=Q02750-2; Sequence=VSP_040500; 

location:
SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton, microtubule organizing center, centrosome {ECO:0000269|PubMed:14737111}. Cytoplasm, cytoskeleton, microtubule organizing center, spindle pole body {ECO:0000269|PubMed:14737111}. Cytoplasm {ECO:0000269|PubMed:10409742, ECO:0000269|PubMed:17101779}. Nucleus {ECO:0000269|PubMed:17101779}. Membrane {ECO:0000269|PubMed:10409742}; Peripheral membrane protein {ECO:0000269|PubMed:10409742}. Note=Localizes at centrosomes during prometaphase, midzone during anaphase and midbody during telophase/cytokinesis (PubMed:14737111). Membrane localization is probably regulated by its interaction with KSR1 (PubMed:10409742). {ECO:0000269|PubMed:10409742, ECO:0000269|PubMed:14737111}.


uniprotID: Q8N3R9
geneSymbol: MPP5
reactome: R-HSA-420029;
pdb: 1Y76;3UIT;4UU5;4UU6;4WSI;
name: MAGUK p55 subfamily member 5
length: 675
go: ENSG00000072415;
sequence:

opentargets:
bicellular tight junction [GO:0005923]; cell-cell adherens junction [GO:0005913]; cytoplasm [GO:0005737]; endomembrane system [GO:0012505]; extracellular exosome [GO:0070062]; lateral loop [GO:0043219]; myelin sheath adaxonal region [GO:0035749]; plasma membrane [GO:0005886]; protein-containing complex [GO:0032991]; Schmidt-Lanterman incisure [GO:0043220]; protein domain specific binding [GO:0019904]; bicellular tight junction assembly [GO:0070830]; establishment of epithelial cell polarity [GO:0090162]; morphogenesis of an epithelial sheet [GO:0002011]; myelin assembly [GO:0032288]; peripheral nervous system myelin maintenance [GO:0032287]; protein localization to myelin sheath abaxonal region [GO:0035750]; protein localization to plasma membrane [GO:0072659]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q8N3R9-1; Sequence=Displayed; Name=2; IsoId=Q8N3R9-2; Sequence=VSP_014002; 

location:
SUBCELLULAR LOCATION: Cell membrane; Peripheral membrane protein. Endomembrane system; Peripheral membrane protein. Cell junction, tight junction. Note=Localized to the tight junctions of epithelial cells and a subset of intracellular vesicles. In the retina, detected at the outer limiting membrane (OLM), apical to the adherens junction (AJ), where it colocalizes with CRB1. Colocalizes with MPP1 in the retina at the outer limiting membrane (OLM). Localized to the Purkinje cell body and axon.


uniprotID: P36021
geneSymbol: SLC16A2
reactome: R-HSA-879518;
length: 539
go: ENSG00000147100;
drug: DB00149;DB00150;DB00135;DB00451;DB01583;DB00119;
name:
Monocarboxylate transporter 8 (MCT 8) (Monocarboxylate transporter 7) (MCT 7) (Solute carrier family 16 member 2) (X-linked PEST-containing transporter)

sequence:

opentargets:
integral component of plasma membrane [GO:0005887]; plasma membrane [GO:0005886]; monocarboxylic acid transmembrane transporter activity [GO:0008028]; symporter activity [GO:0015293]; thyroid hormone transmembrane transporter activity [GO:0015349]; transporter activity [GO:0005215]; monocarboxylic acid transport [GO:0015718]; sodium-independent organic anion transport [GO:0043252]; thyroid hormone transport [GO:0070327]

snps:
rs113994162 rs373279555 rs104894936 rs727504155 rs398124232 rs12849411 rs104894939 rs587784384 rs122455132 rs104894931 rs794727799 rs104894938 

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:23550058, ECO:0000269|PubMed:25527620, ECO:0000269|PubMed:26426690}; Multi-pass membrane protein {ECO:0000269|PubMed:23550058, ECO:0000269|PubMed:25527620}.


uniprotID: A6NHM9
geneSymbol: MOXD2P
length: 499
name:
Putative DBH-like monooxygenase protein 2 (EC 1.14.17.-) (DBH-like monooxygenase protein 2 pseudogene)

sequence:

opentargets:
cytoplasm [GO:0005737]; extracellular space [GO:0005615]; secretory granule membrane [GO:0030667]; copper ion binding [GO:0005507]; dopamine beta-monooxygenase activity [GO:0004500]; oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced ascorbate as one donor, and incorporation of one atom of oxygen [GO:0016715]; dopamine catabolic process [GO:0042420]; norepinephrine biosynthetic process [GO:0042421]; octopamine biosynthetic process [GO:0006589]


uniprotID: Q99547
geneSymbol: MPHOSPH6
reactome: R-HSA-6791226;
pdb: 6D6Q;6D6R;6H25;
name: M-phase phosphoprotein 6
length: 160
go: ENSG00000135698;
snps: rs2303267
location: SUBCELLULAR LOCATION: Nucleus, nucleolus. Cytoplasm. Note=Cytoplasmic in M phase.
sequence:
MAAERKTRLSKNLLRMKFMQRGLDSETKKQLEEEEKKIISEEHWYLDLPELKEKESFIIEEQSFLLCEDLLYGRMSFRGFNPEVEKLMLQMNAKHKAEEVEDETVELDVSDEEMARRYETLVGTIGKKFARKRDHANYEEDENGDITPIKAKKMFLKPQD

opentargets:
cytoplasm [GO:0005737]; exosome (RNase complex) [GO:0000178]; nuclear exosome (RNase complex) [GO:0000176]; nucleolus [GO:0005730]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; RNA binding [GO:0003723]; maturation of 5.8S rRNA [GO:0000460]; rRNA processing [GO:0006364]


uniprotID: Q13163
geneSymbol: MAP2K5
reactome: R-HSA-198765;
pdb: 2NPT;2O2V;4IC7;
length: 448
go: ENSG00000137764;
snps: rs56241934 rs1226964455 rs55811347
name:
Dual specificity mitogen-activated protein kinase kinase 5 (MAP kinase kinase 5) (MAPKK 5) (EC 2.7.12.2) (MAPK/ERK kinase 5) (MEK 5)

sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; nucleus [GO:0005634]; spindle [GO:0005819]; ATP binding [GO:0005524]; MAP kinase kinase activity [GO:0004708]; metal ion binding [GO:0046872]; protein kinase activity [GO:0004672]; protein serine/threonine kinase activity [GO:0004674]; protein tyrosine kinase activity [GO:0004713]; activation of MAPK activity [GO:0000187]; activation of protein kinase activity [GO:0032147]; cellular response to growth factor stimulus [GO:0071363]; cellular response to laminar fluid shear stress [GO:0071499]; ERK5 cascade [GO:0070375]; heart development [GO:0007507]; negative regulation of cell migration involved in sprouting angiogenesis [GO:0090051]; negative regulation of chemokine (C-X-C motif) ligand 2 production [GO:2000342]; negative regulation of cysteine-type endopeptidase activity involved in apoptotic process [GO:0043154]; negative regulation of extrinsic apoptotic signaling pathway in absence of ligand [GO:2001240]; negative regulation of heterotypic cell-cell adhesion [GO:0034115]; negative regulation of interleukin-8 biosynthetic process [GO:0045415]; negative regulation of NF-kappaB transcription factor activity [GO:0032088]; negative regulation of response to cytokine stimulus [GO:0060761]; negative regulation of transcription by RNA polymerase II [GO:0000122]; positive regulation of cell growth [GO:0030307]; positive regulation of epithelial cell proliferation [GO:0050679]; positive regulation of protein metabolic process [GO:0051247]; positive regulation of transcription by RNA polymerase II [GO:0045944]; signal transduction [GO:0007165]; signal transduction by protein phosphorylation [GO:0023014]; stress-activated protein kinase signaling cascade [GO:0031098]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=B; IsoId=Q13163-1; Sequence=Displayed; Name=A; IsoId=Q13163-2; Sequence=VSP_021825; Name=C; IsoId=Q13163-3; Sequence=VSP_021825, VSP_021826; Note=Incomplete sequence.; Name=4; IsoId=Q13163-4; Sequence=VSP_043333; Note=No experimental confirmation available.; 


uniprotID: P52564
geneSymbol: MAP2K6
reactome: R-HSA-168638;R-HSA-2559580;R-HSA-375170;R-HSA-450302;R-HSA-5210891;R-HSA-6811555;R-HSA-9020702;
pdb: 2Y8O;3ENM;3FME;3VN9;5ETF;
length: 334
go: ENSG00000108984;
name:
Dual specificity mitogen-activated protein kinase kinase 6 (MAP kinase kinase 6) (MAPKK 6) (EC 2.7.12.2) (MAPK/ERK kinase 6) (MEK 6) (Stress-activated protein kinase kinase 3) (SAPK kinase 3) (SAPKK-3) (SAPKK3)

sequence:

opentargets:
cytoplasm [GO:0005737]; cytoskeleton [GO:0005856]; cytosol [GO:0005829]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; ATP binding [GO:0005524]; identical protein binding [GO:0042802]; MAP kinase kinase activity [GO:0004708]; protein kinase binding [GO:0019901]; protein serine/threonine kinase activity [GO:0004674]; protein tyrosine kinase activity [GO:0004713]; activation of MAPK activity [GO:0000187]; activation of protein kinase activity [GO:0032147]; apoptotic process [GO:0006915]; cardiac muscle contraction [GO:0060048]; cell cycle arrest [GO:0007050]; cellular response to sorbitol [GO:0072709]; DNA damage induced protein phosphorylation [GO:0006975]; negative regulation of cold-induced thermogenesis [GO:0120163]; nucleotide-binding oligomerization domain containing signaling pathway [GO:0070423]; ovulation cycle process [GO:0022602]; positive regulation of apoptotic process [GO:0043065]; positive regulation of nitric-oxide synthase biosynthetic process [GO:0051770]; positive regulation of prostaglandin secretion [GO:0032308]; response to drug [GO:0042493]; response to ischemia [GO:0002931]; signal transduction [GO:0007165]; signal transduction by protein phosphorylation [GO:0023014]; stress-activated protein kinase signaling cascade [GO:0031098]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; Synonyms=MKK6b; IsoId=P52564-1; Sequence=Displayed; Name=2; Synonyms=MKK6; IsoId=P52564-2; Sequence=VSP_004882; 

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:9768359}. Cytoplasm {ECO:0000269|PubMed:9768359}. Cytoplasm, cytoskeleton {ECO:0000269|PubMed:9768359}. Note=Binds to microtubules.


uniprotID: Q86VF5
geneSymbol: MOGAT3
reactome: R-HSA-75109;
length: 341
go: ENSG00000106384;
name:
2-acylglycerol O-acyltransferase 3 (EC 2.3.1.20) (EC 2.3.1.22) (Acyl-CoA:monoacylglycerol acyltransferase 3) (MGAT3) (Diacylglycerol O-acyltransferase candidate 7) (hDC7) (Diacylglycerol acyltransferase 2-like protein 7) (Monoacylglycerol O-acyltransferase 3)

sequence:

opentargets:
endoplasmic reticulum membrane [GO:0005789]; integral component of membrane [GO:0016021]; 2-acylglycerol O-acyltransferase activity [GO:0003846]; diacylglycerol O-acyltransferase activity [GO:0004144]; glycerol metabolic process [GO:0006071]; triglyceride biosynthetic process [GO:0019432]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q86VF5-1; Sequence=Displayed; Name=2; IsoId=Q86VF5-2; Sequence=VSP_020361, VSP_020362; Note=No experimental confirmation available.; Name=3; IsoId=Q86VF5-3; Sequence=VSP_020363; Note=No experimental confirmation available.; 


uniprotID: P36507
geneSymbol: MAP2K2
pdb: 1S9I;4H3Q;
length: 400
go: ENSG00000126934;
drug: DB06616;DB08911;
snps: rs121434497 rs121434498 rs267607230 rs121434499
reactome:
R-HSA-112411;R-HSA-445144;R-HSA-5210891;R-HSA-5673000;R-HSA-5674135;R-HSA-5674499;R-HSA-6802946;R-HSA-6802948;R-HSA-6802949;R-HSA-6802952;R-HSA-6802955;

name:
Dual specificity mitogen-activated protein kinase kinase 2 (MAP kinase kinase 2) (MAPKK 2) (EC 2.7.12.2) (ERK activator kinase 2) (MAPK/ERK kinase 2) (MEK 2)

sequence:

opentargets:
cell-cell junction [GO:0005911]; cytoplasm [GO:0005737]; cytoplasmic side of plasma membrane [GO:0009898]; cytosol [GO:0005829]; early endosome [GO:0005769]; endoplasmic reticulum [GO:0005783]; extracellular region [GO:0005576]; focal adhesion [GO:0005925]; Golgi apparatus [GO:0005794]; late endosome [GO:0005770]; microtubule [GO:0005874]; mitochondrion [GO:0005739]; nucleus [GO:0005634]; perinuclear region of cytoplasm [GO:0048471]; peroxisomal membrane [GO:0005778]; ATP binding [GO:0005524]; MAP kinase kinase activity [GO:0004708]; metal ion binding [GO:0046872]; PDZ domain binding [GO:0030165]; protein serine/threonine kinase activator activity [GO:0043539]; protein serine/threonine kinase activity [GO:0004674]; protein serine/threonine/tyrosine kinase activity [GO:0004712]; protein tyrosine kinase activity [GO:0004713]; scaffold protein binding [GO:0097110]; activation of MAPK activity [GO:0000187]; activation of protein kinase activity [GO:0032147]; ERK1 and ERK2 cascade [GO:0070371]; MAPK cascade [GO:0000165]; negative regulation of gene expression [GO:0010629]; peptidyl-serine autophosphorylation [GO:0036289]; positive regulation of production of miRNAs involved in gene silencing by miRNA [GO:1903800]; positive regulation of protein serine/threonine kinase activity [GO:0071902]; positive regulation of transcription, DNA-templated [GO:0045893]; regulation of early endosome to late endosome transport [GO:2000641]; regulation of Golgi inheritance [GO:0090170]; regulation of stress-activated MAPK cascade [GO:0032872]; signal transduction by protein phosphorylation [GO:0023014]; stress-activated protein kinase signaling cascade [GO:0031098]

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:10409742}. Membrane {ECO:0000269|PubMed:10409742}; Peripheral membrane protein {ECO:0000269|PubMed:10409742}. Note=Membrane localization is probably regulated by its interaction with KSR1. {ECO:0000269|PubMed:10409742}.


uniprotID: P53985
geneSymbol: SLC16A1
reactome: R-HSA-210991;R-HSA-433692;R-HSA-5619070;R-HSA-70268;
name: Monocarboxylate transporter 1 (MCT 1) (Solute carrier family 16 member 1)
length: 500
go: ENSG00000155380;
snps: rs11551867 rs80358222 rs606231302 rs72552271 rs1049434
sequence:

opentargets:
cell junction [GO:0030054]; centrosome [GO:0005813]; extracellular exosome [GO:0070062]; integral component of membrane [GO:0016021]; integral component of plasma membrane [GO:0005887]; intracellular membrane-bounded organelle [GO:0043231]; membrane [GO:0016020]; plasma membrane [GO:0005886]; synapse [GO:0045202]; lactate transmembrane transporter activity [GO:0015129]; mevalonate transmembrane transporter activity [GO:0015130]; monocarboxylic acid transmembrane transporter activity [GO:0008028]; organic cyclic compound binding [GO:0097159]; protein homodimerization activity [GO:0042803]; symporter activity [GO:0015293]; behavioral response to nutrient [GO:0051780]; cellular response to organic cyclic compound [GO:0071407]; centrosome cycle [GO:0007098]; glucose homeostasis [GO:0042593]; leukocyte migration [GO:0050900]; lipid metabolic process [GO:0006629]; mevalonate transport [GO:0015728]; monocarboxylic acid transport [GO:0015718]; plasma membrane lactate transport [GO:0035879]; pyruvate metabolic process [GO:0006090]; regulation of insulin secretion [GO:0050796]; response to food [GO:0032094]

drug:
DB04319;DB03166;DB01762;DB04074;DB00345;DB00415;DB08892;DB03793;DB03066;DB00529;DB01440;DB00142;DB04398;DB00563;DB00731;DB00627;DB04552;DB00175;DB01032;DB00119;DB04216;DB00936;DB04348;DB00313;

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=P53985-1; Sequence=Displayed; Name=2; IsoId=P53985-2; Sequence=VSP_056191; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:15505343, ECO:0000269|PubMed:17127621, ECO:0000269|PubMed:24390345}; Multi-pass membrane protein {ECO:0000269|PubMed:15505343, ECO:0000269|PubMed:17127621, ECO:0000269|PubMed:24390345}.


uniprotID: Q9Y6X9
geneSymbol: MORC2
reactome: R-HSA-75105;
pdb: 5OF9;5OFA;5OFB;
name: MORC family CW-type zinc finger protein 2 (Zinc finger CW-type coiled-coil domain protein 1)
length: 1032
go: ENSG00000133422;
snps: rs864309504 rs749060708 rs886037934 rs864309503 rs548292999 rs774444542
sequence:

opentargets:
cytosol [GO:0005829]; nucleus [GO:0005634]; zinc ion binding [GO:0008270]; fatty acid metabolic process [GO:0006631]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9Y6X9-1; Sequence=Displayed; Note=No experimental confirmation available.; Name=2; IsoId=Q9Y6X9-2; Sequence=VSP_041759; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:20225202}. Cytoplasm, cytosol {ECO:0000269|PubMed:20225202, ECO:0000269|PubMed:24286864}. Note=Mainly located in the nucleus.


uniprotID: Q14168
geneSymbol: MPP2
pdb: 2E7K;
name: MAGUK p55 subfamily member 2 (Discs large homolog 2) (Protein MPP2)
length: 576
go: ENSG00000108852;
sequence:

opentargets:
cytoplasm [GO:0005737]; cytoskeleton [GO:0005856]; dendrite membrane [GO:0032590]; dendritic shaft [GO:0043198]; dendritic spine [GO:0043197]; dendritic spine membrane [GO:0032591]; postsynaptic density [GO:0014069]; excitatory postsynaptic potential [GO:0060079]; long-term synaptic potentiation [GO:0060291]; protein homooligomerization [GO:0051260]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=6;  Name=1; IsoId=Q14168-1; Sequence=Displayed; Name=2; IsoId=Q14168-2; Sequence=VSP_003156; Name=3; IsoId=Q14168-3; Sequence=VSP_022951, VSP_003156; Name=4; IsoId=Q14168-4; Sequence=VSP_055138, VSP_003156; Name=5; IsoId=Q14168-5; Sequence=VSP_055136; Name=6; IsoId=Q14168-6; Sequence=VSP_055137, VSP_003156; 

location:
SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton {ECO:0000269|PubMed:19665017}. Membrane {ECO:0000269|PubMed:19665017}. Cell projection, dendrite {ECO:0000250|UniProtKB:Q9WV34}. Cell projection, dendritic spine membrane {ECO:0000250|UniProtKB:Q9WV34}. Note=Prominently expressed in the post-synaptic densities of dendritic spines, is also detected in dendritic shafts. {ECO:0000250|UniProtKB:Q9WV34}.


uniprotID: Q5VT25
geneSymbol: CDC42BPA
length: 1732
go: ENSG00000143776;
name:
Serine/threonine-protein kinase MRCK alpha (EC 2.7.11.1) (CDC42-binding protein kinase alpha) (DMPK-like alpha) (Myotonic dystrophy kinase-related CDC42-binding kinase alpha) (MRCK alpha) (Myotonic dystrophy protein kinase-like alpha)

sequence:

opentargets:
actomyosin [GO:0042641]; cell leading edge [GO:0031252]; cell-cell junction [GO:0005911]; cytoplasm [GO:0005737]; extracellular exosome [GO:0070062]; lamellipodium [GO:0030027]; ATP binding [GO:0005524]; identical protein binding [GO:0042802]; magnesium ion binding [GO:0000287]; protein serine/threonine kinase activity [GO:0004674]; actin cytoskeleton reorganization [GO:0031532]; actomyosin structure organization [GO:0031032]; cell migration [GO:0016477]; intracellular signal transduction [GO:0035556]; protein phosphorylation [GO:0006468]

snps:
rs34614709 rs56364976 rs56119119 rs34943764 rs56219089 rs961490 rs1929860 rs55687355 rs2297417 rs2802269 rs2802269 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=6;  Comment=Additional isoforms seem to exist. They arise due to a two alternate splice sites, the first site involves splicing of exons 21-24 while the second site involves exons 36-40.; Name=1 {ECO:0000305}; IsoId=Q5VT25-1; Sequence=Displayed; Note=No experimental confirmation available. {ECO:0000305}; Name=2 {ECO:0000305}; IsoId=Q5VT25-2; Sequence=VSP_051861, VSP_051863; Note=No experimental confirmation available. {ECO:0000305}; Name=3 {ECO:0000269|PubMed:15723050}; IsoId=Q5VT25-3; Sequence=VSP_051859, VSP_051860; Name=4 {ECO:0000269|PubMed:16710414}; IsoId=Q5VT25-4; Sequence=VSP_051862; Note=No experimental confirmation available. {ECO:0000305}; Name=5 {ECO:0000269|PubMed:15723050}; IsoId=Q5VT25-5; Sequence=VSP_051860; Name=6; IsoId=Q5VT25-6; Sequence=VSP_051860, VSP_035286; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250|UniProtKB:O54874}. Cell projection, lamellipodium {ECO:0000250|UniProtKB:Q3UU96}. Note=Displays a dispersed punctate distribution and concentrates along the cell periphery, especially at the leading edge and cell-cell junction. This concentration is PH-domain dependent. Localizes in the lamellipodium in a FAM89B/LRAP25-dependent manner. {ECO:0000250|UniProtKB:O54874, ECO:0000250|UniProtKB:Q3UU96}.


uniprotID: Q86SM8
geneSymbol: MRGPRE
name: Mas-related G-protein coupled receptor member E (G-protein coupled receptor 167)
length: 312
go: ENSG00000184350;
snps: rs12295710 rs4391795
location: SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein.
sequence:


uniprotID: O96033
geneSymbol: MOCS2
reactome: R-HSA-947581;
pdb: 5MPO;
sequence: MVPLCQVEVLYFAKSAEITGVRSETISVPQEIKALQLWKEIETRHPGLADVRNQIIFAVRQEYVELGDQLLVLQPGDEIAVIPPISGG
length: 88
go: ENSG00000164172;
snps: rs121908608 rs2233210
name:
Molybdopterin synthase sulfur carrier subunit (MOCO1-A) (Molybdenum cofactor synthesis protein 2 small subunit) (Molybdenum cofactor synthesis protein 2A) (MOCS2A) (Molybdopterin-synthase small subunit) (Sulfur carrier protein MOCS2A)

opentargets:
cytosol [GO:0005829]; molybdopterin synthase complex [GO:0019008]; molybdopterin synthase activity [GO:0030366]; nucleotide binding [GO:0000166]; Mo-molybdopterin cofactor biosynthetic process [GO:0006777]; molybdopterin cofactor biosynthetic process [GO:0032324]

location:
SUBCELLULAR LOCATION: Cytoplasm, cytosol {ECO:0000255|HAMAP-Rule:MF_03051, ECO:0000269|PubMed:15073332}.


uniprotID: Q9UQ07
geneSymbol: MOK
length: 419
go: ENSG00000080823;
snps: rs34114580 rs34084056 rs148360666 rs34965156 rs34299975 rs2236493
name:
MAPK/MAK/MRK overlapping kinase (EC 2.7.11.22) (MOK protein kinase) (Renal tumor antigen 1) (RAGE-1)

sequence:

opentargets:
ciliary base [GO:0097546]; cilium [GO:0005929]; cytoplasm [GO:0005737]; nucleus [GO:0005634]; ATP binding [GO:0005524]; cyclin-dependent protein serine/threonine kinase activity [GO:0004693]; metal ion binding [GO:0046872]; protein kinase activity [GO:0004672]; protein serine/threonine kinase activity [GO:0004674]; intracellular signal transduction [GO:0035556]; protein phosphorylation [GO:0006468]; regulation of gene expression [GO:0010468]; signal transduction [GO:0007165]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=6;  Name=1; IsoId=Q9UQ07-1; Sequence=Displayed; Name=2; IsoId=Q9UQ07-2; Sequence=VSP_009144; Note=No experimental confirmation available.; Name=3; Synonyms=RAGE-1 ORF5, RAGE-2 ORF5, RAGE-3 ORF5; IsoId=Q9UQ07-3; Sequence=VSP_009143; Note=No experimental confirmation available.; Name=4; Synonyms=RAGE-4 ORF3; IsoId=Q9UQ07-4; Sequence=VSP_009142, VSP_009145, VSP_009146; Note=No experimental confirmation available.; Name=5; IsoId=Q9UQ07-5; Sequence=VSP_054734; Note=No experimental confirmation available.; Name=6; IsoId=Q9UQ07-6; Sequence=VSP_054735; Note=Gene prediction based on EST data.; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250|UniProtKB:Q9WVS4}. Cell projection, cilium {ECO:0000250|UniProtKB:Q9WVS4}. Nucleus {ECO:0000250|UniProtKB:Q9WVS4}.


uniprotID: Q8TF71
geneSymbol: SLC16A10
reactome: R-HSA-352230;
length: 515
go: ENSG00000112394;
snps: rs17072442
name:
Monocarboxylate transporter 10 (MCT 10) (Aromatic amino acid transporter 1) (Solute carrier family 16 member 10) (T-type amino acid transporter 1)

sequence:

opentargets:
basolateral plasma membrane [GO:0016323]; integral component of plasma membrane [GO:0005887]; plasma membrane [GO:0005886]; amino acid transmembrane transporter activity [GO:0015171]; aromatic amino acid transmembrane transporter activity [GO:0015173]; thyroid hormone transmembrane transporter activity [GO:0015349]; amino acid transport [GO:0006865]; aromatic amino acid transport [GO:0015801]

drug:
DB02952;DB03107;DB01786;DB01746;DB02556;DB03929;DB03225;DB03839;DB06262;DB00145;DB00160;DB00125;DB00174;DB00128;DB00151;DB00138;DB00142;DB00130;DB00117;DB00167;DB00149;DB00123;DB00134;DB00120;DB00172;DB00133;DB00156;DB00150;DB00135;DB00161;DB04398;DB01235;DB00279;DB01583;DB00119;

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:11827462}; Multi-pass membrane protein {ECO:0000255}. Basolateral cell membrane {ECO:0000250}.


uniprotID: Q9H0A0
geneSymbol: NAT10
reactome: R-HSA-6790901;
length: 1025
go: ENSG00000135372;
snps: rs2957516 rs36006049
name:
RNA cytidine acetyltransferase (EC 2.3.1.-) (18S rRNA cytosine acetyltransferase) (N-acetyltransferase 10)

sequence:

opentargets:
membrane [GO:0016020]; midbody [GO:0030496]; nuclear chromosome, telomeric region [GO:0000784]; nucleolus [GO:0005730]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; telomerase holoenzyme complex [GO:0005697]; ATP binding [GO:0005524]; DNA polymerase binding [GO:0070182]; N-acetyltransferase activity [GO:0008080]; RNA binding [GO:0003723]; rRNA cytidine N-acetyltransferase activity [GO:1990883]; negative regulation of telomere maintenance via telomerase [GO:0032211]; rRNA acetylation involved in maturation of SSU-rRNA [GO:1904812]; rRNA modification [GO:0000154]; tRNA acetylation [GO:0051391]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9H0A0-1; Sequence=Displayed; Name=2; IsoId=Q9H0A0-2; Sequence=VSP_054018; 

location:
SUBCELLULAR LOCATION: Nucleus, nucleolus {ECO:0000255|HAMAP-Rule:MF_03211, ECO:0000269|PubMed:12429849, ECO:0000269|PubMed:14592445, ECO:0000269|PubMed:19303003, ECO:0000269|PubMed:25653167}. Note=Nucleolar in interphase and redistributes to the perichromosomal layer and to the midbody during telophase. {ECO:0000269|PubMed:19303003}.


uniprotID: Q9UHF3
geneSymbol: NAT8B
reactome: R-HSA-977225;
length: 227
name:
Putative N-acetyltransferase 8B (EC 2.3.1.-) (Acetyltransferase 1) (ATase1) (Camello-like protein 2)

sequence:

opentargets:
endoplasmic reticulum membrane [GO:0005789]; endoplasmic reticulum-Golgi intermediate compartment [GO:0005793]; endoplasmic reticulum-Golgi intermediate compartment membrane [GO:0033116]; integral component of membrane [GO:0016021]; lysine N-acetyltransferase activity, acting on acetyl phosphate as donor [GO:0004468]; N-acetyltransferase activity [GO:0008080]; amyloid-beta metabolic process [GO:0050435]; cellular protein metabolic process [GO:0044267]; gastrulation with mouth forming second [GO:0001702]; negative regulation of apoptotic process [GO:0043066]; peptidyl-lysine N6-acetylation [GO:0018003]; positive regulation of gene expression [GO:0010628]

location:
SUBCELLULAR LOCATION: Endoplasmic reticulum-Golgi intermediate compartment membrane; Single-pass type II membrane protein. Endoplasmic reticulum membrane; Single-pass type II membrane protein. Note=Enriched in the Endoplasmic reticulum-Golgi intermediate compartment.


uniprotID: Q8TD46
geneSymbol: CD200R1
reactome: R-HSA-198933;
length: 325
snps: rs2171509 rs4596117 rs9826308 rs9865242
name:
Cell surface glycoprotein CD200 receptor 1 (CD200 cell surface glycoprotein receptor) (Cell surface glycoprotein OX2 receptor 1)

sequence:

opentargets:
cell surface [GO:0009986]; external side of plasma membrane [GO:0009897]; extracellular region [GO:0005576]; integral component of membrane [GO:0016021]; intracellular [GO:0005622]; plasma membrane [GO:0005886]; receptor complex [GO:0043235]; glycosylated region protein binding [GO:0140081]; immunoglobulin receptor activity [GO:0019763]; signaling receptor activity [GO:0038023]; heterotypic cell-cell adhesion [GO:0034113]; intracellular signal transduction [GO:0035556]; negative regulation of interleukin-6 secretion [GO:1900165]; negative regulation of macrophage migration [GO:1905522]; negative regulation of neuroinflammatory response [GO:0150079]; negative regulation of neuron death [GO:1901215]; negative regulation of T cell migration [GO:2000405]; regulation of immune response [GO:0050776]; regulation of neuroinflammatory response [GO:0150077]; signal transduction [GO:0007165]; viral process [GO:0016032]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=4;  Name=1; IsoId=Q8TD46-1; Sequence=Displayed; Name=2; IsoId=Q8TD46-2; Sequence=VSP_002614, VSP_002615, VSP_002616; Name=3; IsoId=Q8TD46-3; Sequence=VSP_002615, VSP_002616; Name=4; IsoId=Q8TD46-4; Sequence=VSP_002614; 

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


uniprotID: Q15014
geneSymbol: MORF4L2
reactome: R-HSA-3214847;
length: 288
go: ENSG00000123562;
location: SUBCELLULAR LOCATION: Nucleus.
name:
Mortality factor 4-like protein 2 (MORF-related gene X protein) (Protein MSL3-2) (Transcription factor-like protein MRGX)

sequence:

opentargets:
histone acetyltransferase complex [GO:0000123]; NuA4 histone acetyltransferase complex [GO:0035267]; nucleolus [GO:0005730]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; plasma membrane [GO:0005886]; chromatin silencing [GO:0006342]; DNA repair [GO:0006281]; histone acetylation [GO:0016573]; histone deacetylation [GO:0016575]; histone H2A acetylation [GO:0043968]; histone H4 acetylation [GO:0043967]; positive regulation of striated muscle cell differentiation [GO:0051155]; positive regulation of transcription by RNA polymerase II [GO:0045944]; regulation of growth [GO:0040008]


uniprotID: Q7L9L4
geneSymbol: MOB1B
reactome: R-HSA-2028269;
name: MOB kinase activator 1B (Mob1 homolog 1A) (Mob1A) (Mob1B) (Mps one binder kinase activator-like 1A)
length: 216
go: ENSG00000173542;
sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; extracellular exosome [GO:0070062]; nucleolus [GO:0005730]; nucleus [GO:0005634]; kinase activator activity [GO:0019209]; kinase binding [GO:0019900]; metal ion binding [GO:0046872]; hippo signaling [GO:0035329]; regulation of protein autophosphorylation [GO:0031952]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q7L9L4-1; Sequence=Displayed; Name=2; IsoId=Q7L9L4-2; Sequence=VSP_045097; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:15067004}. Nucleus {ECO:0000269|PubMed:15067004}.


uniprotID: Q8NHV5
geneSymbol: MOSMO
name: Modulator of smoothened protein (Attenuator of hedgehog)
length: 167
go: ENSG00000185716;
sequence:
MDKLTIISGCLFLAADIFAIASIANPDWINTGESAGALTVGLVRQCQTIHGRDRTCIPPRLPPEWVTTLFFIIMGIISLTVTCGLLVASHWRREATKYARWIAFTGMILFCMAALIFPIGFYINEVGGQPYKLPNNTVVGSSYVLFVLSIFFTIVGLLFAGKVCLPG

opentargets:
ciliary membrane [GO:0060170]; Golgi apparatus [GO:0005794]; integral component of membrane [GO:0016021]; plasma membrane [GO:0005886]; negative regulation of smoothened signaling pathway [GO:0045879]; regulation of neuron differentiation [GO:0045664]; regulation of protein stability [GO:0031647]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q8NHV5-1; Sequence=Displayed; Name=2; IsoId=Q8NHV5-3; Sequence=VSP_054465, VSP_054466; Note=No experimental confirmation available. May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.; 

location:
SUBCELLULAR LOCATION: Cell projection, cilium membrane; Multi-pass membrane protein {ECO:0000250|UniProtKB:Q8C784}. Cell membrane; Multi-pass membrane protein {ECO:0000250|UniProtKB:Q8C784}.


uniprotID: P46734
geneSymbol: MAP2K3
reactome: R-HSA-2559580;R-HSA-450302;R-HSA-5210891;
length: 347
go: ENSG00000034152;
snps: rs33911218 rs36047035 rs34105301 rs2305873 rs36076766 rs56067280 rs56216806 rs35206134 rs2363198
name:
Dual specificity mitogen-activated protein kinase kinase 3 (MAP kinase kinase 3) (MAPKK 3) (EC 2.7.12.2) (MAPK/ERK kinase 3) (MEK 3) (Stress-activated protein kinase kinase 2) (SAPK kinase 2) (SAPKK-2) (SAPKK2)

sequence:

opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; membrane [GO:0016020]; nucleoplasm [GO:0005654]; ATP binding [GO:0005524]; MAP kinase kinase activity [GO:0004708]; protein kinase binding [GO:0019901]; protein serine/threonine kinase activity [GO:0004674]; protein tyrosine kinase activity [GO:0004713]; activation of MAPK activity [GO:0000187]; activation of protein kinase activity [GO:0032147]; cardiac muscle contraction [GO:0060048]; cellular response to vascular endothelial growth factor stimulus [GO:0035924]; inflammatory response [GO:0006954]; p38MAPK cascade [GO:0038066]; positive regulation of blood vessel endothelial cell migration [GO:0043536]; positive regulation of protein kinase activity [GO:0045860]; positive regulation of transcription, DNA-templated [GO:0045893]; regulation of cytokine biosynthetic process [GO:0042035]; signal transduction [GO:0007165]; signal transduction by protein phosphorylation [GO:0023014]; stress-activated protein kinase signaling cascade [GO:0031098]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=3; Synonyms=3b; IsoId=P46734-1; Sequence=Displayed; Name=1; IsoId=P46734-2; Sequence=VSP_004878; Name=2; Synonyms=3c; IsoId=P46734-3; Sequence=VSP_004877; 


uniprotID: O60487
geneSymbol: MPZL2
name: Myelin protein zero-like protein 2 (Epithelial V-like antigen 1)
length: 215
go: ENSG00000149573;
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Single-pass type I membrane protein {ECO:0000305}.
sequence:

opentargets:
cytoskeleton [GO:0005856]; integral component of membrane [GO:0016021]; anatomical structure morphogenesis [GO:0009653]; homophilic cell adhesion via plasma membrane adhesion molecules [GO:0007156]


uniprotID: Q6ZUF6
geneSymbol: LINC00336
name: Putative uncharacterized protein encoded by LINC00336
length: 198
snps: rs7759154 rs210162 rs9469517
sequence:
MRAPAQVRTLRWSLGWPGSRGRDVFAALRCAQALRCQPLGSALPPQAPTRDLGRPQAFDSSRTPGPRPPRSTLRMMETKSPTSPSYGARGKVPPGAGPGSPLSRGAGQGAPLSETRFHHVAQAFLKLLSSSNPPTSASESARIIGVSHCTQPQVASLSDRHCSKVNHTVLSPRKGVPLQLTAAHSSSQEVLATVPFHG


uniprotID: O75439
geneSymbol: PMPCB
reactome: R-HSA-1268020;R-HSA-8949664;
name: Mitochondrial-processing peptidase subunit beta (EC 3.4.24.64) (Beta-MPP) (P-52)
length: 489
go: ENSG00000105819;
snps: rs145596167 rs200188353 rs1436866272 rs146343535 rs3087615 rs1461200360
location: SUBCELLULAR LOCATION: Mitochondrion matrix {ECO:0000250}.
sequence:

opentargets:
mitochondrial inner membrane [GO:0005743]; mitochondrial processing peptidase complex [GO:0017087]; mitochondrial respiratory chain complex III [GO:0005750]; mitochondrion [GO:0005739]; metal ion binding [GO:0046872]; metalloendopeptidase activity [GO:0004222]; aerobic respiration [GO:0009060]; mitochondrial calcium ion transmembrane transport [GO:0006851]; mitochondrial electron transport, ubiquinol to cytochrome c [GO:0006122]; protein processing involved in protein targeting to mitochondrion [GO:0006627]


uniprotID: Q70IA8
geneSymbol: MOB3C
name: MOB kinase activator 3C (Mob1 homolog 2C) (Mps one binder kinase activator-like 2C)
length: 216
go: ENSG00000142961;
opentargets: metal ion binding [GO:0046872]
sequence:


uniprotID: O15403
geneSymbol: SLC16A6
length: 523
go: ENSG00000108932;
drug: DB00119;
snps: rs35397826 rs7222013 rs3744307 rs4410141
location: SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein.
name:
Monocarboxylate transporter 7 (MCT 7) (Monocarboxylate transporter 6) (MCT 6) (Solute carrier family 16 member 6)

sequence:

opentargets:
integral component of plasma membrane [GO:0005887]; membrane [GO:0016020]; monocarboxylic acid transmembrane transporter activity [GO:0008028]; symporter activity [GO:0015293]; monocarboxylic acid transport [GO:0015718]


uniprotID: P12872
geneSymbol: MLN
reactome: R-HSA-375276;R-HSA-416476;
pdb: 1LBJ;
name: Promotilin [Cleaved into: Motilin; Motilin-associated peptide (MAP)]
length: 115
go: ENSG00000096395;
snps: rs2281820
location: SUBCELLULAR LOCATION: Secreted.
sequence:
MVSRKAVAALLVVHVAAMLASQTEAFVPIFTYGELQRMQEKERNKGQKKSLSVWQRSGEEGPVDPAEPIREEENEMIKLTAPLEIGMRMNSRQLEKYPATLEGLLSEMLPQHAAK

opentargets:
extracellular region [GO:0005576]; hormone activity [GO:0005179]; motilin receptor binding [GO:0031788]; G protein-coupled receptor signaling pathway [GO:0007186]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=P12872-1; Sequence=Displayed; Name=2; IsoId=P12872-2; Sequence=VSP_045484; Note=No experimental confirmation available.; Name=3; IsoId=P12872-3; Sequence=VSP_047653; Note=No experimental confirmation available.; 


uniprotID: Q7Z3U7
geneSymbol: MON2
name: Protein MON2 homolog (Protein SF21)
length: 1717
go: ENSG00000061987;
snps: rs10219555
sequence:

opentargets:
cytosol [GO:0005829]; extracellular exosome [GO:0070062]; Golgi to endosome transport [GO:0006895]; protein transport [GO:0015031]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=5;  Name=1; IsoId=Q7Z3U7-1; Sequence=Displayed; Name=2; IsoId=Q7Z3U7-2; Sequence=VSP_027392, VSP_027393; Note=No experimental confirmation available.; Name=3; IsoId=Q7Z3U7-3; Sequence=VSP_027389, VSP_027390, VSP_027391; Name=5; IsoId=Q7Z3U7-5; Sequence=VSP_027391; Note=No experimental confirmation available.; Name=6; IsoId=Q7Z3U7-6; Sequence=VSP_055628, VSP_027391; Note=No experimental confirmation available. Gene prediction based on EST data.; 


uniprotID: Q9NZB8
geneSymbol: MOCS1
reactome: R-HSA-947581;
length: 636
go: ENSG00000124615;
name:
Molybdenum cofactor biosynthesis protein 1 (Cell migration-inducing gene 11 protein) (Molybdenum cofactor synthesis-step 1 protein A-B) [Includes: GTP 3',8-cyclase (EC 4.1.99.22) (Molybdenum cofactor biosynthesis protein A); Cyclic pyranopterin monophosphate synthase (EC 4.6.1.17) (Molybdenum cofactor biosynthesis protein C)]

sequence:

opentargets:
cytosol [GO:0005829]; molybdopterin synthase complex [GO:0019008]; nucleus [GO:0005634]; 4 iron, 4 sulfur cluster binding [GO:0051539]; cyclic pyranopterin monophosphate synthase activity [GO:0061799]; GTP 3',8'-cyclase activity [GO:0061798]; GTP binding [GO:0005525]; metal ion binding [GO:0046872]; Mo-molybdopterin cofactor biosynthetic process [GO:0006777]; molybdopterin cofactor biosynthetic process [GO:0032324]

snps:
rs754441164 rs104893970 rs151141411 rs779592342 rs372246702 rs104893969 rs1187685038 rs762253951 rs11969769 rs11969206 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=8;  Comment=So far, the different types of MOCS1A and MOCS1B isoforms have been investigated independently and several combinations might be possible.; Name=MOCS1B; Synonyms=MOCS1B Type-II; IsoId=Q9NZB8-1; Sequence=Displayed; Note=Multidomain protein with inactive MOCS1A and active MOCS1B.; Name=MOCS1A; Synonyms=MOCS1A Type/Iad; IsoId=Q9NZB8-5; Sequence=VSP_036826, VSP_036827; Name=2; Synonyms=MOCS1A Type-Ibcd; IsoId=Q9NZB8-6; Sequence=VSP_036822, VSP_036826, VSP_036827; Name=3; Synonyms=MOCS1A Type-Ibd; IsoId=Q9NZB8-3; Sequence=VSP_036823, VSP_036826, VSP_036827; Name=4; IsoId=Q9NZB8-4; Sequence=VSP_036821, VSP_036824, VSP_036825; Note=May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.; Name=6; Synonyms=MOCS1B Type-III; IsoId=Q9NZB8-2; Sequence=VSP_007439; Note=Multidomain protein with inactive MOCS1A and active MOCS1B.; Name=7; IsoId=Q9NZB8-7; Sequence=VSP_036821, VSP_007439; Name=8; IsoId=Q9NZB8-8; Sequence=VSP_036822; 


uniprotID: Q14149
geneSymbol: MORC3
pdb: 4QQ4;5SVI;5SVX;5SVY;
length: 939
go: ENSG00000159256;
name:
MORC family CW-type zinc finger protein 3 (Nuclear matrix protein 2) (Zinc finger CW-type coiled-coil domain protein 3)

sequence:

opentargets:
nuclear matrix [GO:0016363]; nucleoplasm [GO:0005654]; PML body [GO:0016605]; RNA binding [GO:0003723]; zinc ion binding [GO:0008270]; cell aging [GO:0007569]; maintenance of protein location in nucleus [GO:0051457]; negative regulation of fibroblast proliferation [GO:0048147]; peptidyl-serine phosphorylation [GO:0018105]; post-embryonic development [GO:0009791]; protein phosphorylation [GO:0006468]; protein stabilization [GO:0050821]; viral process [GO:0016032]

location:
SUBCELLULAR LOCATION: Nucleus, nucleoplasm {ECO:0000269|PubMed:11927593, ECO:0000269|PubMed:17332504}. Nucleus matrix {ECO:0000269|PubMed:11927593, ECO:0000269|PubMed:20501696}. Nucleus, PML body {ECO:0000269|PubMed:17332504}. Note=Also found in PML-independent nuclear bodies. Localization to nuclear bodies is ATP-dependent. {ECO:0000269|PubMed:20501696}.


uniprotID: Q9H0G5
geneSymbol: NSRP1
length: 558
go: ENSG00000126653;
snps: rs11544945
name:
Nuclear speckle splicing regulatory protein 1 (Coiled-coil domain-containing protein 55) (Nuclear speckle-related protein 70) (NSrp70)

sequence:

opentargets:
nuclear speck [GO:0016607]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; ribonucleoprotein complex [GO:1990904]; mRNA binding [GO:0003729]; RNA binding [GO:0003723]; developmental process [GO:0032502]; mRNA processing [GO:0006397]; regulation of alternative mRNA splicing, via spliceosome [GO:0000381]; RNA splicing [GO:0008380]

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:21296756}. Nucleus speckle {ECO:0000269|PubMed:21296756}. Note=Colocalizes with splicing factors SRSF1 and SRSF2 in speckles.


uniprotID: P43490
geneSymbol: NAMPT
reactome: R-HSA-1368108;R-HSA-197264;
length: 491
go: ENSG00000105835;
drug: DB05217;DB07656;
pdb:
2E5B;2E5C;2E5D;2GVG;2GVJ;3DGR;3DHD;3DHF;3DKJ;3DKL;4JNM;4JR5;4KFN;4KFO;4KFP;4L4L;4L4M;4LTS;4LV9;4LVA;4LVB;4LVD;4LVF;4LVG;4LWW;4M6P;4M6Q;4N9B;4N9C;4N9D;4N9E;4O0Z;4O10;4O12;4O13;4O14;4O15;4O16;4O17;4O18;4O19;4O1A;4O1B;4O1C;4O1D;4O28;4WQ6;5KIT;5LX3;5LX5;5NSD;5U2M;5U2N;5UPE;5UPF;5WI0;5WI1;6ATB;6AZJ;6E68;

name:
Nicotinamide phosphoribosyltransferase (NAmPRTase) (Nampt) (EC 2.4.2.12) (Pre-B-cell colony-enhancing factor 1) (Pre-B cell-enhancing factor) (Visfatin)

sequence:

opentargets:
cell junction [GO:0030054]; cytosol [GO:0005829]; extracellular exosome [GO:0070062]; nuclear speck [GO:0016607]; plasma membrane [GO:0005886]; cytokine activity [GO:0005125]; drug binding [GO:0008144]; identical protein binding [GO:0042802]; nicotinamide phosphoribosyltransferase activity [GO:0047280]; nicotinate-nucleotide diphosphorylase (carboxylating) activity [GO:0004514]; protein homodimerization activity [GO:0042803]; aging [GO:0007568]; cell-cell signaling [GO:0007267]; cellular response to amyloid-beta [GO:1904646]; cellular response to ionizing radiation [GO:0071479]; cellular response to oxygen-glucose deprivation [GO:0090650]; circadian regulation of gene expression [GO:0032922]; circadian rhythm [GO:0007623]; female pregnancy [GO:0007565]; microglial cell activation [GO:0001774]; NAD biosynthesis via nicotinamide riboside salvage pathway [GO:0034356]; negative regulation of autophagy [GO:0010507]; negative regulation of cellular senescence [GO:2000773]; neuron death [GO:0070997]; positive regulation of cell proliferation [GO:0008284]; positive regulation of nitric-oxide synthase biosynthetic process [GO:0051770]; positive regulation of smooth muscle cell proliferation [GO:0048661]; positive regulation of transcription by RNA polymerase II [GO:0045944]; regulation of lung blood pressure [GO:0014916]; response to D-galactose [GO:1905377]; response to organic cyclic compound [GO:0014070]; signal transduction [GO:0007165]

location:
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:24130902}. Cytoplasm {ECO:0000250|UniProtKB:Q99KQ4}. Secreted {ECO:0000269|PubMed:21741723}. Note=Under non-inflammatory conditions, visfatin predominantly exhibits a granular pattern within the nucleus. Secreted by endothelial cells upon IL-1beta stimulation. Abundantly secreted in milk, reaching 100-fold higher concentrations compared to maternal serum. {ECO:0000269|PubMed:21741723, ECO:0000269|PubMed:24130902}.


uniprotID: Q9H579
geneSymbol: MROH8
name: Protein MROH8 (Maestro heat-like repeat-containing protein family member 8)
length: 483
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q9H579-1; Sequence=Displayed; Name=2; IsoId=Q9H579-2; Sequence=VSP_003821, VSP_003822; Note=No experimental confirmation available.; 


uniprotID: P49006
geneSymbol: MARCKSL1
length: 195
go: ENSG00000175130;
name:
MARCKS-related protein (MARCKS-like protein 1) (Macrophage myristoylated alanine-rich C kinase substrate) (Mac-MARCKS) (MacMARCKS)

sequence:
MGSQSSKAPRGDVTAEEAAGASPAKANGQENGHVKSNGDLSPKGEGESPPVNGTDEAAGATGDAIEPAPPSQGAEAKGEVPPKETPKKKKKFSFKKPFKLSGLSFKRNRKEGGGDSSASSPTEEEQEQGEIGACSDEGTAQEGKAAATPESQEPQAKGAEASAASEEEAGPQATEPSTPSGPESGPTPASAEQNE

opentargets:
cytoplasm [GO:0005737]; cytoskeleton [GO:0005856]; extracellular exosome [GO:0070062]; plasma membrane [GO:0005886]; actin binding [GO:0003779]; calmodulin binding [GO:0005516]; positive regulation of cell proliferation [GO:0008284]

location:
SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton {ECO:0000250|UniProtKB:P28667}. Cell membrane {ECO:0000305|PubMed:22751924, ECO:0000305|PubMed:25255805}; Lipid-anchor {ECO:0000305|PubMed:25255805}. Note=Associates with the membrane via the insertion of the N-terminal N-myristoyl chain and the partial insertion of the effector domain. Association of the effector domain with membranes may be regulated by Ca(2+)/calmodulin. Colocalizes with F-actin at the leading edge of migrating cells (By similarity). In prostate cancers, shows strong expression at apical and/or basal regions of the cell and also has weak cytoplasmic expression (PubMed:22751924). {ECO:0000250|UniProtKB:P28667, ECO:0000269|PubMed:22751924}.


uniprotID: Q15788
geneSymbol: NCOA1
length: 1441
go: ENSG00000084676;
drug: DB07119;DB06875;DB07236;DB07230;DB07724;DB07150;DB07198;DB06927;DB08915;DB01645;DB08231;
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000255|PROSITE-ProRule:PRU00981}.
reactome:
R-HSA-1368082;R-HSA-1368108;R-HSA-159418;R-HSA-192105;R-HSA-193368;R-HSA-193807;R-HSA-1989781;R-HSA-211976;R-HSA-2151201;R-HSA-2426168;R-HSA-3214847;R-HSA-381340;R-HSA-3899300;R-HSA-400206;R-HSA-400253;R-HSA-9018519;

pdb:
1FM6;1FM9;1K4W;1K74;1K7L;1KV6;1N4H;1NQ7;1NRL;1P8D;1PZL;1RDT;1TFC;1U3R;1U3S;1X76;1X78;1X7B;1X7J;1XIU;1XV9;1XVP;1YY4;1YYE;1ZAF;2A3I;2C52;2FVJ;2GTK;2HBH;2HC4;2HCD;2HFP;2NPA;2NV7;2P54;2PRG;3BEJ;3BQD;3CTB;3CWD;3DCT;3DCU;3DR1;3ET1;3ET3;3FEI;3FEJ;3FUR;3FXV;3G8I;3G9E;3GYT;3GYU;3H0A;3HC5;3HC6;3HVL;3IPQ;3IPS;3IPU;3KMR;3LMP;3OKH;3OKI;3OLF;3OLL;3OLS;3OMK;3OMM;3OMO;3OMP;3OMQ;3OOF;3OOK;3P88;3P89;3QT0;3RUT;3RUU;3RVF;3S9S;3T03;3UU7;3UUA;3UUD;3V9Y;3VN2;4DK7;4DK8;4DM6;4DM8;4DQM;4F9M;4FGY;4G1D;4G1Y;4G1Z;4G20;4G21;4G2H;4HEE;4J5X;4JYG;4JYH;4JYI;4MG5;4MG6;4MG7;4MG8;4MG9;4MGA;4MGB;4MGC;4MGD;4RUJ;4RUP;4TUZ;4TV1;4UDA;4UDB;4Y29;5A86;5AVI;5AVL;5AZT;5DSH;5DV3;5DV6;5DV8;5DVC;5DWL;5E7V;5GTN;5GTO;5GTP;5HJS;5JI0;5JMM;5L7E;5L7G;5L7H;5MWP;5MWY;5MX7;5NKY;5NMA;5NMB;5NWM;5OW7;5OW9;5OWD;5Q0J;5Q0K;5Q0L;5Q0M;5Q0N;5Q0O;5Q0P;5Q0Q;5Q0R;5Q0S;5Q0T;5Q0U;5Q0V;5Q0W;5Q0X;5Q0Y;5Q0Z;5Q10;5Q11;5Q12;5Q13;5Q14;5Q15;5Q16;5Q18;5Q19;5Q1A;5Q1B;5Q1C;5Q1D;5Q1E;5Q1F;5Q1G;5Q1H;5Q1I;5X0R;5X8U;5X8W;5YCN;5YCP;5YP6;6BNS;6FO7;6FO8;6FO9;6FOB;6FOD;

name:
Nuclear receptor coactivator 1 (NCoA-1) (EC 2.3.1.48) (Class E basic helix-loop-helix protein 74) (bHLHe74) (Protein Hin-2) (RIP160) (Renal carcinoma antigen NY-REN-52) (Steroid receptor coactivator 1) (SRC-1)

sequence:

opentargets:
cytosol [GO:0005829]; nuclear chromatin [GO:0000790]; nucleoplasm [GO:0005654]; nucleus [GO:0005634]; plasma membrane [GO:0005886]; protein-containing complex [GO:0032991]; androgen receptor binding [GO:0050681]; aryl hydrocarbon receptor binding [GO:0017162]; chromatin binding [GO:0003682]; DNA binding [GO:0003677]; DNA-binding transcription factor activity, RNA polymerase II-specific [GO:0000981]; enzyme binding [GO:0019899]; estrogen receptor binding [GO:0030331]; histone acetyltransferase activity [GO:0004402]; nuclear hormone receptor binding [GO:0035257]; nuclear receptor binding [GO:0016922]; nuclear receptor transcription coactivator activity [GO:0030374]; protein dimerization activity [GO:0046983]; protein N-terminus binding [GO:0047485]; transcription coactivator activity [GO:0003713]; androgen receptor signaling pathway [GO:0030521]; bile acid and bile salt transport [GO:0015721]; cellular response to hormone stimulus [GO:0032870]; cellular response to Thyroglobulin triiodothyronine [GO:1904017]; histone H4 acetylation [GO:0043967]; labyrinthine layer morphogenesis [GO:0060713]; positive regulation of apoptotic process [GO:0043065]; positive regulation of neuron differentiation [GO:0045666]; positive regulation of transcription by RNA polymerase II [GO:0045944]; positive regulation of transcription from RNA polymerase II promoter by galactose [GO:0000435]; positive regulation of transcription, DNA-templated [GO:0045893]; regulation of cellular response to drug [GO:2001038]; regulation of lipid metabolic process [GO:0019216]; regulation of thyroid hormone mediated signaling pathway [GO:0002155]; transcription, DNA-templated [GO:0006351]

snps:
rs1049015 rs1049016 rs1049018 rs1049020 rs1049021 rs1049025 rs1049032 rs1049038 rs56099330 rs1804645 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; Synonyms=SRC-1A, SRC1a; IsoId=Q15788-1; Sequence=Displayed; Name=2; Synonyms=SRC-1E, SRC1e; IsoId=Q15788-2; Sequence=VSP_011739; Note=Major form. Contains a domain at its C-terminus (1241-1399) that is able to mediate transactivation.; Name=3; Synonyms=SRC-1 (-Q); IsoId=Q15788-3; Sequence=VSP_011738; 


uniprotID: A6NCE7
geneSymbol: MAP1LC3B2
length: 125
go: ENSG00000258102;
name:
Microtubule-associated proteins 1A/1B light chain 3 beta 2 (Microtubule-associated proteins 1A/1B light chain 3B-like)

sequence:
MPSEKTFKQRRTFEQRVEDVRLIREQHPTKIPVIIERYKGEKQLPVLDKTKFLVPDHVNMSELIKIIRRRLQLNANQAFFLLVNGHSMVSVSTPISEVYESEKDEDGFLYMVCASQETFGMKLSV

opentargets:
autophagosome membrane [GO:0000421]; cytoplasmic vesicle [GO:0031410]; cytosol [GO:0005829]; endomembrane system [GO:0012505]; microtubule [GO:0005874]; microtubule binding [GO:0008017]; autophagosome assembly [GO:0000045]; autophagy of mitochondrion [GO:0000422]; cellular response to nitrogen starvation [GO:0006995]

location:
SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton {ECO:0000250}. Endomembrane system {ECO:0000250}; Lipid-anchor {ECO:0000250}. Cytoplasmic vesicle, autophagosome membrane {ECO:0000250}; Lipid-anchor {ECO:0000250}. Note=LC3-II binds to the autophagic membranes. {ECO:0000250}.


uniprotID: Q68CQ1
geneSymbol: MROH7
name: Maestro heat-like repeat-containing protein family member 7 (HEAT repeat-containing protein 8)
length: 1323
go: ENSG00000184313;ENSG00000271723;
opentargets: extracellular space [GO:0005615]; integral component of membrane [GO:0016021]
snps: rs11206407 rs12094920 rs1655519 rs17399810 rs1655518 rs12074499 rs2304314 rs480963 rs570218
location: SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Multi-pass membrane protein {ECO:0000305}.
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=6;  Name=1; IsoId=Q68CQ1-7; Sequence=Displayed; Note=No experimental confirmation available.; Name=2; IsoId=Q68CQ1-2; Sequence=VSP_037030, VSP_037031; Name=3; IsoId=Q68CQ1-8; Sequence=VSP_037028, VSP_037029; Note=No experimental confirmation available.; Name=4; IsoId=Q68CQ1-4; Sequence=VSP_037025, VSP_037026; Name=5; IsoId=Q68CQ1-9; Sequence=VSP_037032; Note=No experimental confirmation available.; Name=6; IsoId=Q68CQ1-1; Sequence=VSP_037024, VSP_037027, VSP_037033; Note=No experimental confirmation available. May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.; 


uniprotID: Q5T3U5
geneSymbol: ABCC10
reactome: R-HSA-382556;
name: Multidrug resistance-associated protein 7 (ATP-binding cassette sub-family C member 10)
length: 1492
go: ENSG00000124574;
snps: rs2125739
sequence:

opentargets:
integral component of membrane [GO:0016021]; lysosomal membrane [GO:0005765]; membrane [GO:0016020]; plasma membrane [GO:0005886]; ATP binding [GO:0005524]; ATPase activity, coupled to transmembrane movement of substances [GO:0042626]; ATPase-coupled anion transmembrane transporter activity [GO:0043225]; transmembrane transport [GO:0055085]

drug:
DB00091;DB00987;DB00694;DB01248;DB00997;DB00783;DB00773;DB00441;DB00563;DB01229;DB00203;DB04348;DB00300;DB00661;DB00541;

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; Synonyms=Mrp7; IsoId=Q5T3U5-1; Sequence=Displayed; Name=2; Synonyms=Mrp7A; IsoId=Q5T3U5-2; Sequence=VSP_021078, VSP_021079, VSP_021080; 

location:
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:12566991, ECO:0000269|PubMed:15256465}; Multi-pass membrane protein {ECO:0000255|PROSITE-ProRule:PRU00441, ECO:0000269|PubMed:12566991, ECO:0000269|PubMed:15256465}.


uniprotID: Q5VZV1
geneSymbol: METTL21C
pdb: 4MTL;
name: Protein-lysine methyltransferase METTL21C (EC 2.1.1.-) (Methyltransferase-like protein 21C)
length: 264
go: ENSG00000139780;
snps: rs2390760 rs16960383
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:23349634}.
sequence:

opentargets:
nucleus [GO:0005634]; protein-containing complex [GO:0032991]; heat shock protein binding [GO:0031072]; protein-lysine N-methyltransferase activity [GO:0016279]; cellular response to dexamethasone stimulus [GO:0071549]; hormone-mediated apoptotic signaling pathway [GO:0008628]; protein methylation [GO:0006479]; regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum [GO:0010880]; skeletal muscle tissue development [GO:0007519]


uniprotID: P04731
geneSymbol: MT1A
reactome: R-HSA-5661231;
name: Metallothionein-1A (MT-1A) (Metallothionein-IA) (MT-IA)
sequence: MDPNCSCATGGSCTCTGSCKCKECKCTSCKKSCCSCCPMSCAKCAQGCICKGASEKCSCCA
length: 61
go: ENSG00000205362;
drug: DB00958;DB00515;DB00526;
snps: rs11640851 rs8052394
opentargets:
cytoplasm [GO:0005737]; cytosol [GO:0005829]; nucleus [GO:0005634]; perinuclear region of cytoplasm [GO:0048471]; metal ion binding [GO:0046872]; zinc ion binding [GO:0008270]; cellular response to cadmium ion [GO:0071276]; cellular response to copper ion [GO:0071280]; cellular response to zinc ion [GO:0071294]; cellular zinc ion homeostasis [GO:0006882]; detoxification of copper ion [GO:0010273]; negative regulation of growth [GO:0045926]; response to metal ion [GO:0010038]


uniprotID: Q9UQQ1
geneSymbol: NAALADL1
pdb: 4TWE;
length: 740
go: ENSG00000168060;
snps: rs35422506 rs12223986 rs36053340
name:
N-acetylated-alpha-linked acidic dipeptidase-like protein (NAALADase L) (EC 3.4.17.21) (100 kDa ileum brush border membrane protein) (I100) (Ileal dipeptidylpeptidase)

sequence:

opentargets:
apical plasma membrane [GO:0016324]; integral component of membrane [GO:0016021]; carboxypeptidase activity [GO:0004180]; dipeptidase activity [GO:0016805]; metal ion binding [GO:0046872]; metallopeptidase activity [GO:0008237]; peptidase activity [GO:0008233]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=8;  Name=1; IsoId=Q9UQQ1-1; Sequence=Displayed; Name=2; IsoId=Q9UQQ1-2; Sequence=VSP_005343; Name=3; IsoId=Q9UQQ1-3; Sequence=VSP_005344; Name=4; IsoId=Q9UQQ1-4; Sequence=VSP_005345; Name=5; IsoId=Q9UQQ1-5; Sequence=VSP_005346, VSP_005347; Name=6; IsoId=Q9UQQ1-6; Sequence=VSP_005348, VSP_005349; Name=7; IsoId=Q9UQQ1-7; Sequence=VSP_005350, VSP_005351; Name=8; IsoId=Q9UQQ1-8; Sequence=VSP_005352, VSP_005353; 

location:
SUBCELLULAR LOCATION: Apical cell membrane; Single-pass type II membrane protein. Note=Ileal brush border membrane.


uniprotID: Q7Z745
geneSymbol: MROH2B
length: 1585
go: ENSG00000171495;
name:
Maestro heat-like repeat-containing protein family member 2B (HEAT repeat-containing protein 7B2) (Sperm PKA-interacting factor) (SPIF)

sequence:

opentargets:
acrosomal vesicle [GO:0001669]; cytoplasm [GO:0005737]; sperm flagellum [GO:0036126]; sperm midpiece [GO:0097225]; cell differentiation [GO:0030154]; protein kinase A signaling [GO:0010737]; spermatogenesis [GO:0007283]

snps:
rs13174484 rs865093 rs10045243 rs17198125 rs325864 rs13173930 rs17854768 rs16870720 rs10067611 rs10054110 rs2271704 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q7Z745-1; Sequence=Displayed; Name=2; IsoId=Q7Z745-2; Sequence=VSP_033361; Note=No experimental confirmation available.; 

location:
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250|UniProtKB:Q7M6Y6}. Cytoplasmic vesicle, secretory vesicle, acrosome {ECO:0000250|UniProtKB:Q7M6Y6}. Cell projection, cilium, flagellum {ECO:0000250|UniProtKB:Q7M6Y6}. Note=Colocalizes with PRKACA and TCP11 on the acrosome and tail regions in round spermatids and spermatozoa regardless of the capacitation status of the sperm. {ECO:0000250|UniProtKB:Q7M6Y6}.


uniprotID: Q9UND3
geneSymbol: NPIPA1
length: 350
go: ENSG00000183426;
snps: rs1136474
name:
Nuclear pore complex-interacting protein family member A1 (Nuclear pore complex-interacting protein) (NPIP)

sequence:

opentargets:
nuclear membrane [GO:0031965]; nuclear pore [GO:0005643]; nucleoplasm [GO:0005654]; mRNA transport [GO:0051028]; protein transport [GO:0015031]

location:
SUBCELLULAR LOCATION: Nucleus, nuclear pore complex {ECO:0000269|PubMed:11586358}. Nucleus membrane {ECO:0000269|PubMed:11586358}. Note=Colocalizes with nuclear pore complex protein NUP62.


uniprotID: E9PIF3
geneSymbol: NPIPA2
name: Nuclear pore complex-interacting protein family member A2
length: 369
opentargets: nucleoplasm [GO:0005654]
sequence:


uniprotID: Q9UJ68
geneSymbol: MSRA
reactome: R-HSA-5676934;
length: 235
go: ENSG00000175806;
drug: DB00134;
name:
Mitochondrial peptide methionine sulfoxide reductase (EC 1.8.4.11) (Peptide-methionine (S)-S-oxide reductase) (Peptide Met(O) reductase) (Protein-methionine-S-oxide reductase) (PMSR)

sequence:

opentargets:
actin cytoskeleton [GO:0015629]; cytosol [GO:0005829]; extracellular exosome [GO:0070062]; membrane [GO:0016020]; mitochondrion [GO:0005739]; nucleoplasm [GO:0005654]; peptide-methionine (S)-S-oxide reductase activity [GO:0008113]; cellular protein modification process [GO:0006464]; methionine metabolic process [GO:0006555]; protein repair [GO:0030091]; response to oxidative stress [GO:0006979]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative promoter usage, Alternative splicing, Alternative initiation; Named isoforms=5;  Comment=Only about 25% of mRNAs are initiated at the mitochondrial isoform 1 codon.; Name=1; Synonyms=MsrA1, mitoMSRA, a; IsoId=Q9UJ68-1; Sequence=Displayed; Note=Mitochondrial. Produced by alternative splicing.; Name=2; Synonyms=MsrA2, d; IsoId=Q9UJ68-2; Sequence=VSP_041405; Note=Cytoplasmic. Produced by alternative promoter usage.; Name=3; Synonyms=MsrA3, cytoMSRA, c; IsoId=Q9UJ68-3; Sequence=VSP_041406; Note=Cytoplasmic and nuclear. Produced by alternative promoter usage.; Name=4; Synonyms=b; IsoId=Q9UJ68-4; Sequence=VSP_041407; Note=Produced by alternative splicing.; Name=5; IsoId=Q9UJ68-5; Sequence=VSP_042132; Note=Cytoplasmic. Produced by alternative initiation. {ECO:0000269|PubMed:20368336, ECO:0000269|PubMed:25807930}; 

location:
SUBCELLULAR LOCATION: Isoform 1: Mitochondrion.; SUBCELLULAR LOCATION: Isoform 2: Cytoplasm.; SUBCELLULAR LOCATION: Isoform 3: Cytoplasm. Nucleus.; SUBCELLULAR LOCATION: Isoform 5: Cytoplasm. Membrane {ECO:0000305}; Lipid-anchor {ECO:0000305}.


uniprotID: Q8N7R0
geneSymbol: NANOGP1
name: Putative homeobox protein NANOG2
length: 232
location: SUBCELLULAR LOCATION: Nucleus {ECO:0000255|PROSITE-ProRule:PRU00108}.
sequence:

opentargets:
nucleus [GO:0005634]; sequence-specific DNA binding [GO:0043565]; regulation of transcription, DNA-templated [GO:0006355]


uniprotID: Q3BBV0
geneSymbol: NBPF1
name: Neuroblastoma breakpoint family member 1
length: 1214
go: ENSG00000219481;
opentargets: cytoplasm [GO:0005737]
snps: rs9730080 rs9730077 rs681623 rs3738661 rs672812 rs28453011 rs3901680 rs3901679 rs9727080
location: SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:16079250}.
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q3BBV0-1; Sequence=Displayed; Name=2; IsoId=Q3BBV0-2; Sequence=VSP_059360; Note=No experimental confirmation available. Derived from EST data.; 


uniprotID: Q9H094
geneSymbol: NBPF3
name: Neuroblastoma breakpoint family member 3 (Protein AE2) (Protein SHIIIa4)
length: 633
go: ENSG00000142794;
opentargets: cytoplasm [GO:0005737]
snps: rs1827293 rs16825377 rs12043777 rs12034222
location: SUBCELLULAR LOCATION: Cytoplasm {ECO:0000305}.
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=5;  Name=1; IsoId=Q9H094-1; Sequence=Displayed; Name=2; IsoId=Q9H094-2; Sequence=VSP_025626; Note=No experimental confirmation available.; Name=3; IsoId=Q9H094-3; Sequence=VSP_025627, VSP_025628; Note=No experimental confirmation available.; Name=4; IsoId=Q9H094-4; Sequence=VSP_025625; Note=No experimental confirmation available.; Name=5; IsoId=Q9H094-5; Sequence=VSP_044705; Note=No experimental confirmation available.; 


uniprotID: Q96M43
geneSymbol: NBPF4
name: Neuroblastoma breakpoint family member 4
length: 638
opentargets: cytoplasm [GO:0005737]
location: SUBCELLULAR LOCATION: Cytoplasm {ECO:0000305}.
sequence:


uniprotID: Q86XG9
geneSymbol: NBPF5P
name: Putative neuroblastoma breakpoint family member 5
length: 351
opentargets: cytoplasm [GO:0005737]
location: SUBCELLULAR LOCATION: Cytoplasm {ECO:0000305}.
sequence:


uniprotID: Q5VWK0
geneSymbol: NBPF6
name: Neuroblastoma breakpoint family member 6
length: 638
go: ENSG00000186086;
opentargets: cytoplasm [GO:0005737]
location: SUBCELLULAR LOCATION: Cytoplasm {ECO:0000305}.
sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=1; IsoId=Q5VWK0-1; Sequence=Displayed; Name=2; IsoId=Q5VWK0-2; Sequence=VSP_053911; Note=No experimental confirmation available.; 


uniprotID: P0C2Y1
geneSymbol: NBPF7
name: Putative neuroblastoma breakpoint family member 7
length: 421
opentargets: cytoplasm [GO:0005737]
snps: rs6678923
location: SUBCELLULAR LOCATION: Cytoplasm {ECO:0000305}.
sequence:


uniprotID: Q8NFP9
geneSymbol: NBEA
pdb: 1MI1;
name: Neurobeachin (Lysosomal-trafficking regulator 2) (Protein BCL8B)
length: 2946
go: ENSG00000172915;
snps: rs5011295 rs11538677
sequence:

opentargets:
cytosol [GO:0005829]; endomembrane system [GO:0012505]; plasma membrane [GO:0005886]; trans-Golgi network [GO:0005802]; protein kinase binding [GO:0019901]; protein localization [GO:0008104]

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1 {ECO:0000305}; IsoId=Q8NFP9-1; Sequence=Displayed; Name=2 {ECO:0000305}; IsoId=Q8NFP9-2; Sequence=VSP_050538, VSP_050539; Note=No experimental confirmation available. {ECO:0000305}; Name=3; IsoId=Q8NFP9-3; Sequence=VSP_046397; Note=No experimental confirmation available.; 


uniprotID: Q6ZS30
geneSymbol: NBEAL1
length: 2694
go: ENSG00000144426;
name:
Neurobeachin-like protein 1 (Amyotrophic lateral sclerosis 2 chromosomal region candidate gene 16 protein) (Amyotrophic lateral sclerosis 2 chromosomal region candidate gene 17 protein)

sequence:

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=2;  Name=2; IsoId=Q6ZS30-2; Sequence=Displayed; Name=1; IsoId=Q6ZS30-1; Sequence=VSP_039337, VSP_039338; 


uniprotID: Q6ZNJ1
geneSymbol: NBEAL2
reactome: R-HSA-6798695;
name: Neurobeachin-like protein 2
length: 2754
go: ENSG00000160796;
location: SUBCELLULAR LOCATION: Endoplasmic reticulum {ECO:0000269|PubMed:21765412}.
sequence:

opentargets:
endoplasmic reticulum [GO:0005783]; ficolin-1-rich granule membrane [GO:0101003]; membrane [GO:0016020]; plasma membrane [GO:0005886]; tertiary granule membrane [GO:0070821]; neutrophil degranulation [GO:0043312]; platelet formation [GO:0030220]

snps:
rs754407148 rs387907113 rs17079425 rs11720139 rs387907114 rs773164015 rs1341020147 rs750160418 rs4682830 rs2305637 rs387907115 rs1357067113 rs749896920 rs144664865 rs12893 

isoforms:
ALTERNATIVE PRODUCTS:  Event=Alternative splicing; Named isoforms=3;  Name=1; IsoId=Q6ZNJ1-1; Sequence=Displayed; Name=2; IsoId=Q6ZNJ1-2; Sequence=VSP_033505, VSP_033506; Name=3; IsoId=Q6ZNJ1-3; Sequence=VSP_033507; Note=No experimental confirmation available.; 


