Gene Gene information from NCBI Gene database.
Entrez ID 3716
Gene name Janus kinase 1
Gene symbol JAK1
Synonyms (NCBI Gene)
AIIDEJAK1AJAK1BJTK3
Chromosome 1
Chromosome location 1p31.3
Summary 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
SNPs SNP information provided by dbSNP.
3
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
miRNA miRNA information provided by mirtarbase database.
608
miRTarBase ID miRNA Experiments Reference
MIRT000482 hsa-miR-17-5p Luciferase reporter assayWestern 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 factors information provided by TRRUST V2 database.
1
Transcription factor Regulation Reference
BRCA1 Unknown 11163768
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
96
GO ID Ontology Definition Evidence Reference
GO:0000166 Function Nucleotide binding IEA
GO:0004672 Function Protein kinase activity IEA
GO:0004713 Function Protein tyrosine kinase activity EXP 1386289, 9446616, 10825200, 31892268
GO:0004713 Function Protein tyrosine kinase activity IC 7543512
GO:0004713 Function Protein tyrosine kinase activity IDA 7532278, 7929391, 7973659, 8272873, 8756628, 10702271, 15226449
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
147795 6190 ENSG00000162434
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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
Tissue specificity TISSUE SPECIFICITY: Expressed at higher levels in primary colon tumors than in normal colon tissue. The expression level in metastatic colon tumors is comparable to the expression level in normal colon tissue. {ECO:0000269|PubMed:7896447}.
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
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  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 Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
73
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Acute megakaryoblastic leukemia in down syndrome Likely pathogenic rs1655079234 RCV001293764
Autoinflammation, immune dysregulation, and eosinophilia Pathogenic; Likely pathogenic rs2524099521, rs869312953, rs1655173102 RCV002280062
RCV001255134
RCV001255135
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
- no classification for the single variant rs760807400 -
Acute myeloid leukemia Uncertain significance rs764565978 RCV005924326
Adrenocortical carcinoma, hereditary Benign rs3737139 RCV005914309
Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial jak1 deficiency Uncertain significance rs779408869 RCV005429067
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Acute erythroleukemia Associate 37565053
Adenocarcinoma of Lung Associate 26840709, 34587898, 37640192
Adenocarcinoma of Lung Inhibit 33323549
Adenoma Pleomorphic Associate 27286739
Aicardi Goutieres syndrome Associate 37171742
Allergic Fungal Sinusitis Stimulate 30657646
Anemia Inhibit 27789678
Anemia Aplastic Associate 35590143
Anophthalmia with pulmonary hypoplasia Associate 26586478
Arthralgia Associate 37343845