• Gene id: 3718

Gene Summary

• Gene Symbol: JAK3   Gene   UCSC   Ensembl
• Aliases: JAK-3, JAK3_HUMAN, JAKL, L-JAK, LJAK
• Gene name: Janus kinase 3
• Alternate names: tyrosine-protein kinase JAK3, Janus kinase 3 (a protein tyrosine kinase, leukocyte), leukocyte Janus kinase,
• Gene location: 19p13.11 (17848070: 17824781)     Exons: 25     NC_000019.10
• Gene summary(Entrez): The protein encoded by this gene is a member of the Janus kinase (JAK) family of tyrosine kinases involved in cytokine receptor-mediated intracellular signal transduction. It is predominantly expressed in immune cells and transduces a signal in response t
• OMIM: 176260

Protein Summary

• Protein general information: P52333  
  • Name: Tyrosine protein kinase JAK3 (EC 2.7.10.2) (Janus kinase 3) (JAK 3) (Leukocyte janus kinase) (L JAK)
  • Length: 1124  
  • Mass: 125099
  • Tissue specificity: In NK cells and an NK-like cell line but not in resting T-cells or in other tissues. The S-form is more commonly seen in hematopoietic lines, whereas the B-form is detected in cells both of hematopoietic and epithelial origins. {ECO
• Sequence:

  MAPPSEETPLIPQRSCSLLSTEAGALHVLLPARGPGPPQRLSFSFGDHLAEDLCVQAAKASGILPVYHSLFALAT
  EDLSCWFPPSHIFSVEDASTQVLLYRIRFYFPNWFGLEKCHRFGLRKDLASAILDLPVLEHLFAQHRSDLVSGRL
  PVGLSLKEQGECLSLAVLDLARMAREQAQRPGELLKTVSYKACLPPSLRDLIQGLSFVTRRRIRRTVRRALRRVA
  ACQADRHSLMAKYIMDLERLDPAGAAETFHVGLPGALGGHDGLGLLRVAGDGGIAWTQGEQEVLQPFCDFPEIVD
  ISIKQAPRVGPAGEHRLVTVTRTDNQILEAEFPGLPEALSFVALVDGYFRLTTDSQHFFCKEVAPPRLLEEVAEQ
  CHGPITLDFAINKLKTGGSRPGSYVLRRSPQDFDSFLLTVCVQNPLGPDYKGCLIRRSPTGTFLLVGLSRPHSSL
  RELLATCWDGGLHVDGVAVTLTSCCIPRPKEKSNLIVVQRGHSPPTSSLVQPQSQYQLSQMTFHKIPADSLEWHE
  NLGHGSFTKIYRGCRHEVVDGEARKTEVLLKVMDAKHKNCMESFLEAASLMSQVSYRHLVLLHGVCMAGDSTMVQ
  EFVHLGAIDMYLRKRGHLVPASWKLQVVKQLAYALNYLEDKGLPHGNVSARKVLLAREGADGSPPFIKLSDPGVS
  PAVLSLEMLTDRIPWVAPECLREAQTLSLEADKWGFGATVWEVFSGVTMPISALDPAKKLQFYEDRQQLPAPKWT
  ELALLIQQCMAYEPVQRPSFRAVIRDLNSLISSDYELLSDPTPGALAPRDGLWNGAQLYACQDPTIFEERHLKYI
  SQLGKGNFGSVELCRYDPLGDNTGALVAVKQLQHSGPDQQRDFQREIQILKALHSDFIVKYRGVSYGPGRQSLRL
  VMEYLPSGCLRDFLQRHRARLDASRLLLYSSQICKGMEYLGSRRCVHRDLAARNILVESEAHVKIADFGLAKLLP
  LDKDYYVVREPGQSPIFWYAPESLSDNIFSRQSDVWSFGVVLYELFTYCDKSCSPSAEFLRMMGCERDVPALCRL
  LELLEEGQRLPAPPACPAEVHELMKLCWAPSPQDRPSFSALGPQLDMLWSGSRGCETHAFTAHPEGKHHSLSFS

• Structural information:
  • Protein Domains: (24..35-)
    (/note="FERM-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00084-)
    (375..47-)
    (/note="SH-)
    (-)
    (521..78-)
    1 (/note="Protein-kinase)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00159-)
    (822..111-)
    (/note="Protein-kin)
  • Interpro: IPR019749  IPR000299  IPR041155  IPR041046  IPR041381   IPR011009  IPR000719  IPR017441  IPR001245  IPR000980  IPR036860  IPR008266  IPR020635  IPR016251  IPR020775  
  • Prosite: PS50057 PS00107 PS50011 PS00109
  • PDB: 1YVJ 3LXK 3LXL 3PJC 3ZC6 3ZEP 4HVD 4HVG 4HVH 4HVI 4I6Q 4QPS 4QT1 4RIO 4V0G 4Z16 5LWM 5LWN 5TOZ 5TTS 5TTU 5TTV 5VO6 5W86 5WFJ 6AAK 6DA4 6DB3 6DB4 6DUD 6GL9 6GLA 6GLB 6HZV 6NY4
  • PDBsum: 1YVJ 3LXK 3LXL 3PJC 3ZC6 3ZEP 4HVD 4HVG 4HVH 4HVI 4I6Q 4QPS 4QT1 4RIO 4V0G 4Z16 5LWM 5LWN 5TOZ 5TTS 5TTU 5TTV 5VO6 5W86 5WFJ 6AAK 6DA4 6DB3 6DB4 6DUD 6GL9 6GLA 6GLB 6HZV 6NY4
  • DIP: 274
  • STRING: ENSP00000391676
• Other Databases: GeneCards:  JAK3  Malacards:  JAK3

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0007260	tyrosine phosphorylation of STAT protein	IBA	biological process
GO:0019221	cytokine-mediated signaling pathway	IBA	biological process
GO:0030183	B cell differentiation	IBA	biological process
GO:0030218	erythrocyte differentiation	IBA	biological process
GO:0043029	T cell homeostasis	IBA	biological process
GO:0042102	positive regulation of T cell proliferation	IBA	biological process
GO:0042981	regulation of apoptotic process	IBA	biological process
GO:0043029	T cell homeostasis	TAS	biological process
GO:0007260	tyrosine phosphorylation of STAT protein	TAS	biological process
GO:0060397	growth hormone receptor signaling pathway via JAK-STAT	TAS	biological process
GO:0019903	protein phosphatase binding	IPI	molecular function
GO:0046425	regulation of receptor signaling pathway via JAK-STAT	TAS	biological process
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:0016301	kinase activity	IEA	molecular function
GO:0045087	innate immune response	IEA	biological process
GO:0004713	protein tyrosine kinase activity	IEA	molecular function
GO:0016740	transferase activity	IEA	molecular function
GO:0002376	immune system process	IEA	biological process
GO:0002250	adaptive immune response	IEA	biological process
GO:0005524	ATP binding	IEA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0000166	nucleotide binding	IEA	molecular function
GO:0016310	phosphorylation	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0004713	protein tyrosine kinase activity	TAS	molecular function
GO:0006468	protein phosphorylation	TAS	biological process
GO:0004715	non-membrane spanning protein tyrosine kinase activity	IEA	molecular function
GO:0000165	MAPK cascade	TAS	biological process
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0035723	interleukin-15-mediated signaling pathway	TAS	biological process
GO:0004713	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: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:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0004713	protein tyrosine kinase activity	ISS	molecular function
GO:0035771	interleukin-4-mediated signaling pathway	IDA	biological process
GO:0070670	response to interleukin-4	IDA	biological process
GO:0070670	response to interleukin-4	IDA	biological process
GO:0002731	negative regulation of dendritic cell cytokine production	ISS	biological process
GO:0018108	peptidyl-tyrosine phosphorylation	ISS	biological process
GO:0030183	B cell differentiation	ISS	biological process
GO:0032695	negative regulation of interleukin-12 production	ISS	biological process
GO:0043029	T cell homeostasis	ISS	biological process
GO:0045221	negative regulation of FasL production	ISS	biological process
GO:0007167	enzyme linked receptor protein signaling pathway	ISS	biological process
GO:0032693	negative regulation of interleukin-10 production	ISS	biological process
GO:0035556	intracellular signal transduction	ISS	biological process
GO:0045626	negative regulation of T-helper 1 cell differentiation	ISS	biological process
GO:0050868	negative regulation of T cell activation	ISS	biological process
GO:0070232	regulation of T cell apoptotic process	ISS	biological process
GO:0070244	negative regulation of thymocyte apoptotic process	ISS	biological process
GO:0070669	response to interleukin-2	TAS	biological process
GO:0070672	response to interleukin-15	TAS	biological process
GO:0071104	response to interleukin-9	TAS	biological process
GO:0012505	endomembrane system	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa05200	Pathways in cancer
hsa04151	PI3K-Akt signaling pathway
hsa05166	Human T-cell leukemia virus 1 infection
hsa04062	Chemokine signaling pathway
hsa05203	Viral carcinogenesis
hsa05169	Epstein-Barr virus infection
hsa04217	Necroptosis
hsa04630	JAK-STAT signaling pathway
hsa05161	Hepatitis B
hsa04550	Signaling pathways regulating pluripotency of stem cells
hsa05162	Measles
hsa04659	Th17 cell differentiation
hsa04658	Th1 and Th2 cell differentiation
hsa05223	Non-small cell lung cancer
hsa05340	Primary immunodeficiency

Diseases

Associated diseases	References
T-B+Severe combined immunodeficiency	KEGG:H00091
T-B+Severe combined immunodeficiency	KEGG:H00091
Juvenile myelomonocytic leukemia	PMID:23832011
Adult T-cell leukemia	PMID:21821710
Acute T cell leukemia	PMID:25193870
megakaryocytic leukemia	PMID:16843266
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq