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JAK3 Janus kinase 3 [ Homo sapiens (human) ]

Gene ID: 3718, updated on 1-Jun-2020

Summary

Official Symbol
JAK3provided by HGNC
Official Full Name
Janus kinase 3provided by HGNC
Primary source
HGNC:HGNC:6193
See related
Ensembl:ENSG00000105639 MIM:600173
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
JAKL; LJAK; JAK-3; L-JAK; JAK3_HUMAN
Summary
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 to its activation via tyrosine phosphorylation by interleukin receptors. Mutations in this gene are associated with autosomal SCID (severe combined immunodeficiency disease). [provided by RefSeq, Jul 2008]
Expression
Biased expression in appendix (RPKM 19.5), lymph node (RPKM 18.2) and 12 other tissues See more
Orthologs

Genomic context

See JAK3 in Genome Data Viewer
Location:
19p13.11
Exon count:
25
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 19 NC_000019.10 (17824782..17848071, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (17935591..17958880, complement)

Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 3 Neighboring gene insulin like 3 Neighboring gene ribosomal protein L18a Neighboring gene small nucleolar RNA, H/ACA box 68 Neighboring gene solute carrier family 5 member 5

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

HIV-1 interactions

Protein interactions

Protein Gene Interaction Pubs
Envelope surface glycoprotein gp120 env The inhibition of IL-2R expression and proliferation induced by the interaction of CD4 with HIV-1 envelope glycoprotein gp120 is correlated with the inhibition of expression and activation of Janus kinase JAK3 PubMed
Tat tat HIV-1 Tat-mediated upregulation of CCL5 involves JAK2/3, AKT2/3, p38delta, NF-kappaB (p65/p50), C/EBP alpha/gamma, and AP-1 proteins PubMed
tat HIV-1 Tat upregulates the expression of Janus kinase 3 (JAK3) in human primary T cells PubMed

Go to the HIV-1, Human Interaction Database

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
ATP binding IEA
Inferred from Electronic Annotation
more info
 
non-membrane spanning protein tyrosine kinase activity IEA
Inferred from Electronic Annotation
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein phosphatase binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein tyrosine kinase activity ISS
Inferred from Sequence or Structural Similarity
more info
 
protein tyrosine kinase activity TAS
Traceable Author Statement
more info
 
Process Evidence Code Pubs
B cell differentiation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
B cell differentiation ISS
Inferred from Sequence or Structural Similarity
more info
 
JAK-STAT cascade involved in growth hormone signaling pathway TAS
Traceable Author Statement
more info
PubMed 
MAPK cascade TAS
Traceable Author Statement
more info
 
T cell homeostasis IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
T cell homeostasis ISS
Inferred from Sequence or Structural Similarity
more info
 
T cell homeostasis TAS
Traceable Author Statement
more info
PubMed 
adaptive immune response IEA
Inferred from Electronic Annotation
more info
 
cytokine-mediated signaling pathway IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cytokine-mediated signaling pathway TAS
Traceable Author Statement
more info
 
enzyme linked receptor protein signaling pathway ISS
Inferred from Sequence or Structural Similarity
more info
 
erythrocyte differentiation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
innate immune response IEA
Inferred from Electronic Annotation
more info
 
interleukin-15-mediated signaling pathway TAS
Traceable Author Statement
more info
 
interleukin-2-mediated signaling pathway TAS
Traceable Author Statement
more info
 
interleukin-21-mediated signaling pathway TAS
Traceable Author Statement
more info
 
interleukin-4-mediated signaling pathway IDA
Inferred from Direct Assay
more info
PubMed 
interleukin-7-mediated signaling pathway TAS
Traceable Author Statement
more info
 
interleukin-9-mediated signaling pathway TAS
Traceable Author Statement
more info
 
intracellular signal transduction ISS
Inferred from Sequence or Structural Similarity
more info
 
negative regulation of FasL biosynthetic process ISS
Inferred from Sequence or Structural Similarity
more info
 
negative regulation of T cell activation ISS
Inferred from Sequence or Structural Similarity
more info
 
negative regulation of T-helper 1 cell differentiation ISS
Inferred from Sequence or Structural Similarity
more info
 
negative regulation of dendritic cell cytokine production ISS
Inferred from Sequence or Structural Similarity
more info
 
negative regulation of interleukin-10 production ISS
Inferred from Sequence or Structural Similarity
more info
 
negative regulation of interleukin-12 production ISS
Inferred from Sequence or Structural Similarity
more info
 
negative regulation of thymocyte apoptotic process ISS
Inferred from Sequence or Structural Similarity
more info
 
peptidyl-tyrosine phosphorylation ISS
Inferred from Sequence or Structural Similarity
more info
 
positive regulation of T cell proliferation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
protein phosphorylation TAS
Traceable Author Statement
more info
PubMed 
regulation of JAK-STAT cascade TAS
Traceable Author Statement
more info
PubMed 
regulation of T cell apoptotic process ISS
Inferred from Sequence or Structural Similarity
more info
 
regulation of apoptotic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
response to interleukin-15 TAS
Traceable Author Statement
more info
PubMed 
response to interleukin-2 TAS
Traceable Author Statement
more info
PubMed 
response to interleukin-4 IDA
Inferred from Direct Assay
more info
PubMed 
response to interleukin-9 TAS
Traceable Author Statement
more info
PubMed 
tyrosine phosphorylation of STAT protein IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
tyrosine phosphorylation of STAT protein TAS
Traceable Author Statement
more info
PubMed 
Component Evidence Code Pubs
cytoskeleton IEA
Inferred from Electronic Annotation
more info
 
cytosol TAS
Traceable Author Statement
more info
 
endosome TAS
Traceable Author Statement
more info
 
plasma membrane TAS
Traceable Author Statement
more info
 

General protein information

Preferred Names
tyrosine-protein kinase JAK3
Names
Janus kinase 3 (a protein tyrosine kinase, leukocyte)
leukocyte Janus kinase
NP_000206.2
XP_011526292.1
XP_011526293.1

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_007273.1 RefSeqGene

    Range
    4960..28210
    Download
    GenBank, FASTA, Sequence Viewer (Graphics), LRG_77

mRNA and Protein(s)

  1. NM_000215.4NP_000206.2  tyrosine-protein kinase JAK3

    See identical proteins and their annotated locations for NP_000206.2

    Status: REVIEWED

    Source sequence(s)
    AC007201, BF512748, DA405504, U09607, U31601
    Consensus CDS
    CCDS12366.1
    UniProtKB/Swiss-Prot
    P52333
    UniProtKB/TrEMBL
    A0A024R7M7
    Related
    ENSP00000391676.1, ENST00000458235.6
    Conserved Domains (6) summary
    cd10380
    Location:362458
    SH2_Jak3; Src homology 2 (SH2) domain in the Janus kinase 3 (Jak3) proteins
    smart00295
    Location:39200
    B41; Band 4.1 homologues
    cd05081
    Location:8171099
    PTKc_Jak3_rpt2; Catalytic (repeat 2) domain of the Protein Tyrosine Kinase, Janus kinase 3
    cd14208
    Location:521778
    PTK_Jak3_rpt1; Pseudokinase (repeat 1) domain of the Protein Tyrosine Kinase, Janus kinase 3
    pfam07714
    Location:8221095
    Pkinase_Tyr; Protein tyrosine kinase
    cl17171
    Location:250362
    PH-like; Pleckstrin homology-like domain

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000019.10 Reference GRCh38.p13 Primary Assembly

    Range
    17824782..17848071 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011527990.1XP_011526292.1  tyrosine-protein kinase JAK3 isoform X2

    Conserved Domains (5) summary
    cd10380
    Location:405501
    SH2_Jak3; Src homology 2 (SH2) domain in the Janus kinase 3 (Jak3) proteins
    smart00295
    Location:82243
    B41; Band 4.1 homologues
    cd14208
    Location:564821
    PTK_Jak3_rpt1; Pseudokinase (repeat 1) domain of the Protein Tyrosine Kinase, Janus kinase 3
    pfam07714
    Location:564820
    Pkinase_Tyr; Protein tyrosine kinase
    cl17171
    Location:293405
    PH-like; Pleckstrin homology-like domain
  2. XM_011527991.2XP_011526293.1  tyrosine-protein kinase JAK3 isoform X3

    Conserved Domains (4) summary
    cd10380
    Location:405501
    SH2_Jak3; Src homology 2 (SH2) domain in the Janus kinase 3 (Jak3) proteins
    smart00295
    Location:82243
    B41; Band 4.1 homologues
    cl17171
    Location:293405
    PH-like; Pleckstrin homology-like domain
    cl21453
    Location:564639
    PKc_like; Protein Kinases, catalytic domain
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