• Gene id: 3716

Gene Summary

• Gene Symbol: JAK1   Gene   UCSC   Ensembl
• Aliases: JAK1A, JAK1B, JTK3
• Gene name: Janus kinase 1
• Alternate names: tyrosine-protein kinase JAK1,
• Gene location: 1p31.3 (65067745: 64833222)     Exons: 15     NC_000001.11
• Gene summary(Entrez): 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
• OMIM: 147795

Protein Summary

• Protein general information: P23458  
  • Name: Tyrosine protein kinase JAK1 (EC 2.7.10.2) (Janus kinase 1) (JAK 1)
  • Length: 1154  
  • Mass: 133277
  • 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
• Sequence:

  MQYLNIKEDCNAMAFCAKMRSSKKTEVNLEAPEPGVEVIFYLSDREPLRLGSGEYTAEELCIRAAQACRISPLCH
  NLFALYDENTKLWYAPNRTITVDDKMSLRLHYRMRFYFTNWHGTNDNEQSVWRHSPKKQKNGYEKKKIPDATPLL
  DASSLEYLFAQGQYDLVKCLAPIRDPKTEQDGHDIENECLGMAVLAISHYAMMKKMQLPELPKDISYKRYIPETL
  NKSIRQRNLLTRMRINNVFKDFLKEFNNKTICDSSVSTHDLKVKYLATLETLTKHYGAEIFETSMLLISSENEMN
  WFHSNDGGNVLYYEVMVTGNLGIQWRHKPNVVSVEKEKNKLKRKKLENKHKKDEEKNKIREEWNNFSYFPEITHI
  VIKESVVSINKQDNKKMELKLSSHEEALSFVSLVDGYFRLTADAHHYLCTDVAPPLIVHNIQNGCHGPICTEYAI
  NKLRQEGSEEGMYVLRWSCTDFDNILMTVTCFEKSEQVQGAQKQFKNFQIEVQKGRYSLHGSDRSFPSLGDLMSH
  LKKQILRTDNISFMLKRCCQPKPREISNLLVATKKAQEWQPVYPMSQLSFDRILKKDLVQGEHLGRGTRTHIYSG
  TLMDYKDDEGTSEEKKIKVILKVLDPSHRDISLAFFEAASMMRQVSHKHIVYLYGVCVRDVENIMVEEFVEGGPL
  DLFMHRKSDVLTTPWKFKVAKQLASALSYLEDKDLVHGNVCTKNLLLAREGIDSECGPFIKLSDPGIPITVLSRQ
  ECIERIPWIAPECVEDSKNLSVAADKWSFGTTLWEICYNGEIPLKDKTLIEKERFYESRCRPVTPSCKELADLMT
  RCMNYDPNQRPFFRAIMRDINKLEEQNPDIVSEKKPATEVDPTHFEKRFLKRIRDLGEGHFGKVELCRYDPEGDN
  TGEQVAVKSLKPESGGNHIADLKKEIEILRNLYHENIVKYKGICTEDGGNGIKLIMEFLPSGSLKEYLPKNKNKI
  NLKQQLKYAVQICKGMDYLGSRQYVHRDLAARNVLVESEHQVKIGDFGLTKAIETDKEYYTVKDDRDSPVFWYAP
  ECLMQSKFYIASDVWSFGVTLHELLTYCDSDSSPMALFLKMIGPTHGQMTVTRLVNTLKEGKRLPCPPNCPDEVY
  QLMRKCWEFQPSNRTSFQNLIEGFEALLK

• Structural information:
  • Protein Domains: (34..42-)
    (/note="FERM-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00084-)
    (439..54-)
    (/note="SH2-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00191-)
    (583..85-)
    1 (/note="Protein-kinase)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU0015-)
  • Interpro: IPR019749  IPR035963  IPR019748  IPR000299  IPR041155   IPR041046  IPR041381  IPR011009  IPR000719  IPR017441  IPR001245  IPR000980  IPR036860  IPR008266  IPR020635  IPR016251  IPR020776  
  • Prosite: PS50057 PS00107 PS50011 PS00109 PS50001
  • CDD: cd14473
  • 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
  • PDBsum: 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
  • DIP: 133
  • STRING: ENSP00000343204
• Other Databases: GeneCards:  JAK1  Malacards:  JAK1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005515	protein binding	IPI	molecular function
GO:0150105	protein localization to cell-cell junction	IMP	biological process
GO:0034112	positive regulation of homotypic cell-cell adhesion	IMP	biological process
GO:0005131	growth hormone receptor binding	IBA	molecular function
GO:0019221	cytokine-mediated signaling pathway	IBA	biological process
GO:0038110	interleukin-2-mediated signaling pathway	IDA	biological process
GO:0019903	protein phosphatase binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0004713	protein tyrosine kinase activity	IEA	molecular function
GO:0004715	non-membrane spanning protein tyrosine kinase activity	IEA	molecular function
GO:0004672	protein kinase activity	IEA	molecular function
GO:0005524	ATP binding	IEA	molecular function
GO:0005856	cytoskeleton	IEA	cellular component
GO:0006468	protein phosphorylation	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0035556	intracellular signal transduction	IEA	biological process
GO:0004713	protein tyrosine kinase activity	IEA	molecular function
GO:0016740	transferase activity	IEA	molecular function
GO:0046872	metal ion binding	IEA	molecular function
GO:0016301	kinase activity	IEA	molecular function
GO:0000166	nucleotide binding	IEA	molecular function
GO:0016020	membrane	IEA	cellular component
GO:0016310	phosphorylation	IEA	biological process
GO:0005524	ATP binding	IEA	molecular function
GO:0004713	protein tyrosine kinase activity	TAS	molecular function
GO:0006468	protein phosphorylation	TAS	biological process
GO:0035556	intracellular signal transduction	TAS	biological process
GO:0004715	non-membrane spanning protein tyrosine kinase activity	IEA	molecular function
GO:0046677	response to antibiotic	IDA	biological process
GO:0004713	protein tyrosine kinase activity	EXP	molecular function
GO:0004713	protein tyrosine kinase activity	EXP	molecular function
GO:0004713	protein tyrosine kinase activity	EXP	molecular function
GO:0000165	MAPK cascade	TAS	biological process
GO:0035722	interleukin-12-mediated signaling pathway	TAS	biological process
GO:0035723	interleukin-15-mediated signaling pathway	TAS	biological process
GO:0060333	interferon-gamma-mediated signaling pathway	TAS	biological process
GO:0060334	regulation of interferon-gamma-mediated signaling pathway	TAS	biological process
GO:0070106	interleukin-27-mediated signaling pathway	TAS	biological process
GO:0004713	protein tyrosine kinase activity	TAS	molecular function
GO:0004713	protein tyrosine kinase activity	TAS	molecular function
GO:0004715	non-membrane spanning protein tyrosine kinase activity	TAS	molecular function
GO:0004715	non-membrane spanning protein tyrosine kinase activity	TAS	molecular function
GO:0004715	non-membrane spanning protein tyrosine kinase activity	TAS	molecular function
GO:0004715	non-membrane spanning protein tyrosine kinase activity	TAS	molecular function
GO:0005768	endosome	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0019221	cytokine-mediated signaling pathway	TAS	biological process
GO:0019221	cytokine-mediated signaling pathway	TAS	biological process
GO:0019221	cytokine-mediated signaling pathway	TAS	biological process
GO:0019221	cytokine-mediated signaling pathway	TAS	biological process
GO:0019221	cytokine-mediated signaling pathway	TAS	biological process
GO:0019221	cytokine-mediated signaling pathway	TAS	biological process
GO:0019221	cytokine-mediated signaling pathway	TAS	biological process
GO:0038110	interleukin-2-mediated signaling pathway	TAS	biological process
GO:0038111	interleukin-7-mediated signaling pathway	TAS	biological process
GO:0038113	interleukin-9-mediated signaling pathway	TAS	biological process
GO:0038114	interleukin-21-mediated signaling pathway	TAS	biological process
GO:0060337	type I interferon signaling pathway	TAS	biological process
GO:0070102	interleukin-6-mediated signaling pathway	TAS	biological process
GO:0070757	interleukin-35-mediated signaling pathway	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:1903672	positive regulation of sprouting angiogenesis	IGI	biological process
GO:0005131	growth hormone receptor binding	ISS	molecular function
GO:0005634	nucleus	IDA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0012505	endomembrane system	IEA	cellular component
GO:0018108	peptidyl-tyrosine phosphorylation	IEA	biological process
GO:0018108	peptidyl-tyrosine phosphorylation	IEA	biological process
GO:0018108	peptidyl-tyrosine phosphorylation	IEA	biological process
GO:0018108	peptidyl-tyrosine phosphorylation	IEA	biological process
GO:0018108	peptidyl-tyrosine phosphorylation	IEA	biological process
GO:0018108	peptidyl-tyrosine phosphorylation	IEA	biological process
GO:0018108	peptidyl-tyrosine phosphorylation	IEA	biological process
GO:0018108	peptidyl-tyrosine phosphorylation	IEA	biological process
GO:0018108	peptidyl-tyrosine phosphorylation	IEA	biological process
GO:0018108	peptidyl-tyrosine phosphorylation	IEA	biological process
GO:0018108	peptidyl-tyrosine phosphorylation	IEA	biological process
GO:0018108	peptidyl-tyrosine phosphorylation	IEA	biological process
GO:0018108	peptidyl-tyrosine phosphorylation	IEA	biological process
GO:0018108	peptidyl-tyrosine phosphorylation	IEA	biological process
GO:0031625	ubiquitin protein ligase binding	IPI	molecular function
GO:0005925	focal adhesion	HDA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa05200	Pathways in cancer
hsa05168	Herpes simplex virus 1 infection
hsa04151	PI3K-Akt signaling pathway
hsa05165	Human papillomavirus infection
hsa05166	Human T-cell leukemia virus 1 infection
hsa05163	Human cytomegalovirus infection
hsa05203	Viral carcinogenesis
hsa05169	Epstein-Barr virus infection
hsa05167	Kaposi sarcoma-associated herpesvirus infection
hsa04621	NOD-like receptor signaling pathway
hsa05152	Tuberculosis
hsa04217	Necroptosis
hsa04630	JAK-STAT signaling pathway
hsa05164	Influenza A
hsa05161	Hepatitis B
hsa04550	Signaling pathways regulating pluripotency of stem cells
hsa04380	Osteoclast differentiation
hsa05160	Hepatitis C
hsa05162	Measles
hsa04659	Th17 cell differentiation
hsa05145	Toxoplasmosis
hsa05235	PD-L1 expression and PD-1 checkpoint pathway in cancer
hsa04658	Th1 and Th2 cell differentiation
hsa05212	Pancreatic cancer
hsa01521	EGFR tyrosine kinase inhibitor resistance
hsa05140	Leishmaniasis

Diseases

Associated diseases	References
Ovarian cancer	PMID:25319391
pancreatic ductal adenocarcinoma	PMID:28677798
pancreatic adenocarcinoma	PMID:29328487
Acute T cell leukemia	PMID:18559588
hepatocellular carcinoma	PMID:26701727
colorectal cancer	PMID:28539123
Cryptorchidism	MIK: 28606200
Hypospermatogenesis	MIK: 28361989
Spermatogenic defects	MIK: 31037746
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
28361989	Hypospermatogenesis			6 (3 controls, 3 Klienfelter syndrome	Male infertility	Microarray
31037746	Spermatogenic defects			16 (1 control, 15 cases)	Male infertility	GSE6023 analyzed using GEO2R