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JAK1 (Janus kinase 1)

Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
3716
Gene nameGene Name - the full gene name approved by the HGNC.
Janus kinase 1
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
JAK1
SynonymsGene synonyms aliases
AIIDE, JAK1A, JAK1B, JTK3
ChromosomeChromosome number
1
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
1p31.3
SummarySummary of gene provided in NCBI Entrez Gene.
This gene encodes a membrane protein that is a member of a class of protein-tyrosine kinases (PTK) characterized by the presence of a second phosphotransferase-related domain immediately N-terminal to the PTK domain. The encoded kinase phosphorylates STAT
SNPsSNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs151047872 G>A Likely-pathogenic Missense variant, coding sequence variant
rs869312953 G>T Likely-pathogenic Missense variant, coding sequence variant
rs1057519753 C>A Likely-pathogenic Missense variant, coding sequence variant
miRNAmiRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT000482 hsa-miR-17-5p Luciferase reporter assay, Western blot 20299512
MIRT020460 hsa-miR-106b-5p Microarray 17242205
MIRT021877 hsa-miR-128-3p Microarray 17612493
MIRT046471 hsa-miR-15b-5p CLASH 23622248
MIRT046312 hsa-miR-23b-3p CLASH 23622248
Transcription factors
Transcription factor Regulation Reference
BRCA1 Unknown 11163768
Gene ontology (GO)Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0000165 Process MAPK cascade TAS
GO:0004713 Function Protein tyrosine kinase activity EXP 1386289, 8232552, 10825200
GO:0004713 Function Protein tyrosine kinase activity TAS
GO:0004715 Function Non-membrane spanning protein tyrosine kinase activity TAS
GO:0005131 Function Growth hormone receptor binding IBA 21873635
Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM
HGNC
e!Ensembl
Protein
UniProt ID P23458
Protein name Tyrosine-protein kinase JAK1 (EC 2.7.10.2) (Janus kinase 1) (JAK-1)
Protein function Tyrosine kinase of the non-receptor type, involved in the IFN-alpha/beta/gamma signal pathway (PubMed:16239216, PubMed:28111307, PubMed:32750333, PubMed:7615558, PubMed:8232552). Kinase partner for the interleukin (IL)-2 receptor (PubMed:1190952
PDB 3EYG , 3EYH , 4E4L , 4E4N , 4E5W , 4EHZ , 4EI4 , 4FK6 , 4GS0 , 4I5C , 4IVB , 4IVC , 4IVD , 4K6Z , 4K77 , 4L00 , 4L01 , 5E1E , 5HX8 , 5IXD , 5IXI , 5KHW , 5KHX , 5L04 , 5WO4 , 6AAH , 6BBU , 6C7Y , 6DBN , 6ELR , 6GGH , 6HZU , 6N77 , 6N78 , 6N79 , 6N7A , 6N7B , 6N7C , 6N7D , 6RSB , 6RSC , 6RSD , 6RSE , 6RSH , 6SM8 , 6SMB , 6TPE , 6TPF , 6W8L , 8EXJ , 8S85
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF18379 FERM_F1
36 129
FERM F1 ubiquitin-like domain
Domain
PF18377 FERM_F2
147 277
FERM F2 acyl-CoA binding protein-like domain
Domain
PF17887 Jak1_Phl
284 421
Jak1 pleckstrin homology-like domain
Domain
PF07714 PK_Tyr_Ser-Thr
583 845
Protein tyrosine and serine/threonine kinase
Domain
PF07714 PK_Tyr_Ser-Thr
875 1149
Protein tyrosine and serine/threonine kinase
Domain
Sequence
MQYLNIKEDCNAMAFCAKMRSSKKTEVNLEAPEPGVEVIFYLSDREPLRLGSGEYTAEEL
CIRAAQACRISPLCHNLFALYDENTKLWYAPNRTITVDDKMSLRLHYRMRFYFTNWHGTN
DNEQSVWRH
SPKKQKNGYEKKKIPDATPLLDASSLEYLFAQGQYDLVKCLAPIRDPKTEQ
DGHDIENECLGMAVLAISHYAMMKKMQLPELPKDISYKRYIPETLNKSIRQRNLLTRMRI
NNVFKDFLKEFNNKTICDSSVSTHDLKVKYLATLETL
TKHYGAEIFETSMLLISSENEMN
WFHSNDGGNVLYYEVMVTGNLGIQWRHKPNVVSVEKEKNKLKRKKLENKHKKDEEKNKIR
EEWNNFSYFPEITHIVIKESVVSINKQDNKKMELKLSSHEEALSFVSLVDGYFRLTADAH
H
YLCTDVAPPLIVHNIQNGCHGPICTEYAINKLRQEGSEEGMYVLRWSCTDFDNILMTVT
CFEKSEQVQGAQKQFKNFQIEVQKGRYSLHGSDRSFPSLGDLMSHLKKQILRTDNISFML
KRCCQPKPREISNLLVATKKAQEWQPVYPMSQLSFDRILKKDLVQGEHLGRGTRTHIYSG
TLMDYKDDEGTSEEKKIKVILKVLDPSHRDISLAFFEAASMMRQVSHKHIVYLYGVCVRD
VENIMVEEFVEGGPLDLFMHRKSDVLTTPWKFKVAKQLASALSYLEDKDLVHGNVCTKNL
LLAREGIDSECGPFIKLSDPGIPITVLSRQECIERIPWIAPECVEDSKNLSVAADKWSFG
TTLWEICYNGEIPLKDKTLIEKERFYESRCRPVTPSCKELADLMTRCMNYDPNQRPFFRA
IMRDI
NKLEEQNPDIVSEKKPATEVDPTHFEKRFLKRIRDLGEGHFGKVELCRYDPEGDN
TGEQVAVKSLKPESGGNHIADLKKEIEILRNLYHENIVKYKGICTEDGGNGIKLIMEFLP
SGSLKEYLPKNKNKINLKQQLKYAVQICKGMDYLGSRQYVHRDLAARNVLVESEHQVKIG
DFGLTKAIETDKEYYTVKDDRDSPVFWYAPECLMQSKFYIASDVWSFGVTLHELLTYCDS
DSSPMALFLKMIGPTHGQMTVTRLVNTLKEGKRLPCPPNCPDEVYQLMRKCWEFQPSNRT
SFQNLIEGF
EALLK
Sequence length 1154
Interactions View interactions
PathwaysPathway information has different metabolic/signaling pathways associated with genes. Each record is hyperlinked to a complete information page which also includes links to the KEGG/Reactome pathway database.
 
KEGG
 
Reactome
  EGFR tyrosine kinase inhibitor resistance
PI3K-Akt signaling pathway
Necroptosis
Osteoclast differentiation
Signaling pathways regulating pluripotency of stem cells
Toll-like receptor signaling pathway
NOD-like receptor signaling pathway
JAK-STAT signaling pathway
Th1 and Th2 cell differentiation
Th17 cell differentiation
Leishmaniasis
Toxoplasmosis
Tuberculosis
Hepatitis C
Hepatitis B
Measles
Human cytomegalovirus infection
Influenza A
Human papillomavirus infection
Human T-cell leukemia virus 1 infection
Kaposi sarcoma-associated herpesvirus infection
Herpes simplex virus 1 infection
Epstein-Barr virus infection
Coronavirus disease - COVID-19
Pathways in cancer
Viral carcinogenesis
Pancreatic cancer
PD-L1 expression and PD-1 checkpoint pathway in cancer
  Interleukin-6 signaling
MAPK3 (ERK1) activation
MAPK1 (ERK2) activation
ISG15 antiviral mechanism
Interleukin-7 signaling
Other interleukin signaling
RAF/MAP kinase cascade
Interleukin-10 signaling
Interleukin-4 and Interleukin-13 signaling
IL-6-type cytokine receptor ligand interactions
Interferon gamma signaling
Regulation of IFNG signaling
Interleukin-20 family signaling
Interleukin-15 signaling
Interleukin-35 Signalling
Interleukin-9 signaling
Interleukin-2 signaling
Interleukin-12 signaling
Interleukin-27 signaling
Interleukin-21 signaling
Interferon alpha/beta signaling
Interleukin receptor SHC signaling
Regulation of IFNA signaling
Associated diseases
Causal
Disease name Disease term dbSNP ID References
Autoimmune diseases Autoimmune Diseases, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 2 rs41285370, rs869025224 30595370
Hypothyroidism Hypothyroidism rs869320723, rs121908862, rs121908863, rs121908865, rs121908866, rs121908867, rs121908870, rs121908871, rs121908872, rs2140110277, rs121908881, rs121908884, rs121908885, rs786205080, rs1586182912, rs121917847, rs104893655, rs104893657, rs104893658, rs104893659, rs104893660, rs104893656, rs121917719, rs786204790, rs189261858, rs879255608, rs868197660, rs879255609, rs1586744173, rs1586182837, rs771222349, rs1587618417, rs1601844140, rs760832986, rs780982673, rs1603336347, rs1691155605 30595370
Leukemia Leukemia, Myelocytic, Acute, Leukemia, Acute, X-Linked rs121909646, rs121913488, rs587776834, rs752746786, rs869312821, rs767454740, rs1554564297, rs11978267, rs4132601 21436584, 21680795, 27903959, 19139102
Lymphoblastic leukemia Precursor Cell Lymphoblastic Leukemia Lymphoma rs387906351, rs104894562, rs398122513, rs398122840, rs398123063, rs1057524466, rs1064796115, rs1064795660, rs1064793129, rs1064796227, rs1567887558, rs1161194345, rs1597558200, rs1406320425, rs1597566470, rs1597566699, rs1597567692, rs1597567985, rs1438890364, rs1288977950, rs1597552140, rs1597566356, rs1597566726, rs1597568117, rs2069719445, rs2069729948, rs2070018439, rs745708044, rs1169577591
Unknown
Disease name Disease term dbSNP ID References
Diabetic nephropathy Diabetic Nephropathy 26305897
Eczema Eczema 30595370
Hypereosinophilic syndrome Hypereosinophilic syndrome rs181854060, rs77524207, rs150577828, rs139236922, rs35597368, rs36035373, rs200042995, rs149951350, rs139913632, rs200033396, rs541057765, rs61735622, rs199827643, rs142498442, rs138519829, rs754092062, rs35805947, rs140725151, rs55966236, rs56026726, rs149031291, rs761924292, rs55830582, rs199902153, rs56384252, rs138150216, rs55996208, rs148629782, rs55947416, rs2229307, rs4358459, rs1873778, rs10028020, rs2228230, rs7685117, rs1799767, rs886059444, rs754623338, rs375050626, rs141346675, rs886059451, rs886059452, rs757111915, rs886059456, rs55710909, rs565989173, rs748063948, rs886059459, rs777478254, rs10034498, rs886059460, rs547925170, rs145549583, rs886059443, rs151259376, rs142492533, rs563016888, rs886059446, rs555347387, rs750090756, rs3690, rs566508858, rs56288633, rs1565664, rs145328998, rs187821520, rs368579295, rs574665425, rs886059461, rs886059462, rs533627398, rs183431225, rs78405886, rs886059445, rs886059447, rs878854837, rs771421611, rs55681376, rs7680422, rs886059450, rs886059448, rs886059449, rs12511976, rs373134586, rs557191329, rs34529347, rs886059457, rs554089461, rs544503522, rs138584193, rs752208389, rs886059458, rs184179322, rs149631103, rs377126983, rs886059463, rs137930765, rs61735621, rs778161572, rs1060504254, rs190260215, rs373948582, rs773679384, rs774431464, rs1218651787, rs778510648, rs779173667 28111307
Lymphoblastic leukemia with lymphomatous features Acute lymphoblastic leukemia with lymphomatous features 22955920, 19139102, 19470474, 19838194, 21680795, 20167706

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