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JAK1 Janus kinase 1 [ Homo sapiens (human) ]

Gene ID: 3716, updated on 26-Apr-2020

Summary

Official Symbol
JAK1provided by HGNC
Official Full Name
Janus kinase 1provided by HGNC
Primary source
HGNC:HGNC:6190
See related
Ensembl:ENSG00000162434 MIM:147795
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
JTK3; JAK1A; JAK1B
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 proteins (signal transducers and activators of transcription) and plays a key role in interferon-alpha/beta and interferon-gamma signal transduction. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2016]
Expression
Ubiquitous expression in lymph node (RPKM 51.3), fat (RPKM 49.8) and 25 other tissues See more
Orthologs

Genomic context

See JAK1 in Genome Data Viewer
Location:
1p31.3
Exon count:
29
Annotation release Status Assembly Chr Location
109.20200228 current GRCh38.p13 (GCF_000001405.39) 1 NC_000001.11 (64833223..65067746, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (65298906..65432593, complement)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC107984966 Neighboring gene cache domain containing 1 Neighboring gene microRNA 4794 Neighboring gene ribonucleoprotein, PTB binding 2 Neighboring gene Sharpr-MPRA regulatory region 6411 Neighboring gene NDUFA4, mitochondrial complex associated pseudogene Neighboring gene Sharpr-MPRA regulatory region 2453 Neighboring gene long intergenic non-protein coding RNA 1359 Neighboring gene solute carrier family 2 member 3 pseudogene 2 Neighboring gene RNA, U6 small nuclear 1176, pseudogene Neighboring gene ribosomal protein S24 pseudogene Neighboring gene microRNA 101-1 Neighboring gene microRNA 3671 Neighboring gene mitochondrial ribosomal protein S21 pseudogene 1

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

Replication interactions

Interaction Pubs
Knockdown of Janus kinase 1 (JAK1) by siRNAs significantly enhances HIV-1 replication in human acute monocytic leukemia cells PubMed
Knockdown of Janus kinase 1 (JAK1) by siRNA inhibits HIV-1 replication in HeLa-derived TZM-bl cells PubMed
Knockdown of Janus kinase 1 (JAK1) by siRNA inhibits HIV-1 replication in HeLa P4/R5 cells PubMed

Protein interactions

Protein Gene Interaction Pubs
Envelope surface glycoprotein gp120 env The transcription factors and kinases c-Jun, JNK, MEK, p38 MAPK, STAT-3, JAK-1, TFII D, TFII F, eIF-4E, and RNA polymerase II are induced by HIV-1 gp120 PubMed
Tat tat HIV-1 Tat-induced upregulation of IDO production requires the activity of IFN-gamma signaling pathway such as JAK and PI3K in human monocyte derived-dendritic cells PubMed
tat Knockdown of JAK1 by siRNAs inhibits HIV LTR-beta-gal activation in the Tat transactivation assay PubMed
tat HIV-1 Tat-mediated activation of PIK3R1 hypothetically induces the modulation of JAK1 PubMed
matrix gag Exposure of human acute monocytic leukemia cells THP-1 to HIV-1 MA activates the syndecan-2/RACK-1/Jak-1 signal pathway, leading to STAT-1 phosphorylation 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
 
growth hormone receptor binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
growth hormone receptor binding ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
metal ion binding IEA
Inferred from Electronic Annotation
more info
 
non-membrane spanning protein tyrosine kinase activity TAS
Traceable Author Statement
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 EXP
Inferred from Experiment
more info
PubMed 
protein tyrosine kinase activity TAS
Traceable Author Statement
more info
 
ubiquitin protein ligase binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
MAPK cascade TAS
Traceable Author Statement
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
 
interferon-gamma-mediated signaling pathway TAS
Traceable Author Statement
more info
 
interleukin-12-mediated signaling pathway TAS
Traceable Author Statement
more info
 
interleukin-15-mediated signaling pathway TAS
Traceable Author Statement
more info
 
interleukin-2-mediated signaling pathway IDA
Inferred from Direct Assay
more info
PubMed 
interleukin-2-mediated signaling pathway TAS
Traceable Author Statement
more info
 
interleukin-21-mediated signaling pathway TAS
Traceable Author Statement
more info
 
interleukin-27-mediated signaling pathway TAS
Traceable Author Statement
more info
 
interleukin-35-mediated signaling pathway TAS
Traceable Author Statement
more info
 
interleukin-6-mediated signaling pathway TAS
Traceable Author Statement
more info
 
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 TAS
Traceable Author Statement
more info
PubMed 
peptidyl-tyrosine phosphorylation IEA
Inferred from Electronic Annotation
more info
 
positive regulation of homotypic cell-cell adhesion IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of sprouting angiogenesis IGI
Inferred from Genetic Interaction
more info
PubMed 
protein phosphorylation TAS
Traceable Author Statement
more info
PubMed 
regulation of interferon-gamma-mediated signaling pathway TAS
Traceable Author Statement
more info
 
response to antibiotic IDA
Inferred from Direct Assay
more info
PubMed 
type I interferon signaling pathway TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
cytoskeleton IEA
Inferred from Electronic Annotation
more info
 
cytosol TAS
Traceable Author Statement
more info
 
endosome TAS
Traceable Author Statement
more info
 
focal adhesion HDA PubMed 
membrane IEA
Inferred from Electronic Annotation
more info
 
nucleus IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
tyrosine-protein kinase JAK1
NP_001307852.1
NP_001308781.1
NP_001308782.1
NP_001308783.1
NP_001308784.1
NP_001308785.1
NP_001308786.1
NP_002218.2

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_023402.2 RefSeqGene

    Range
    106198..239518
    Download
    GenBank, FASTA, Sequence Viewer (Graphics), LRG_1398

mRNA and Protein(s)

  1. NM_001320923.1NP_001307852.1  tyrosine-protein kinase JAK1 isoform 1

    Status: REVIEWED

    Source sequence(s)
    AC093427, AK314257, BC062431, BC132729
    Consensus CDS
    CCDS41346.1
    UniProtKB/Swiss-Prot
    P23458
    UniProtKB/TrEMBL
    Q6P669
    Related
    ENSP00000500485.1, ENST00000671929.1
    Conserved Domains (7) summary
    cd05079
    Location:8701153
    PTKc_Jak1_rpt2; Catalytic (repeat 2) domain of the Protein Tyrosine Kinase, Janus kinase 1
    smart00219
    Location:8751149
    TyrKc; Tyrosine kinase, catalytic domain
    smart00295
    Location:37286
    B41; Band 4.1 homologues
    cd05077
    Location:583846
    PTK_Jak1_rpt1; Pseudokinase (repeat 1) domain of the Protein Tyrosine Kinase, Janus kinase 1
    cd13332
    Location:282426
    FERM_C_JAK1; FERM domain C-lobe of Janus kinase 1
    pfam07714
    Location:583845
    Pkinase_Tyr; Protein tyrosine kinase
    cl15255
    Location:426527
    SH2; Src homology 2 (SH2) domain
  2. NM_001321852.2NP_001308781.1  tyrosine-protein kinase JAK1 isoform 1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) initiates from an upstream promoter compared to variant 1.
    Source sequence(s)
    AC093427, AL357078
    Consensus CDS
    CCDS41346.1
    UniProtKB/Swiss-Prot
    P23458
    Related
    ENSP00000500841.1, ENST00000671954.1
    Conserved Domains (7) summary
    cd05079
    Location:8701153
    PTKc_Jak1_rpt2; Catalytic (repeat 2) domain of the Protein Tyrosine Kinase, Janus kinase 1
    smart00219
    Location:8751149
    TyrKc; Tyrosine kinase, catalytic domain
    smart00295
    Location:37286
    B41; Band 4.1 homologues
    cd05077
    Location:583846
    PTK_Jak1_rpt1; Pseudokinase (repeat 1) domain of the Protein Tyrosine Kinase, Janus kinase 1
    cd13332
    Location:282426
    FERM_C_JAK1; FERM domain C-lobe of Janus kinase 1
    pfam07714
    Location:583845
    Pkinase_Tyr; Protein tyrosine kinase
    cl15255
    Location:426527
    SH2; Src homology 2 (SH2) domain
  3. NM_001321853.2NP_001308782.1  tyrosine-protein kinase JAK1 isoform 1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) initiates from an upstream promoter compared to variant 1.
    Source sequence(s)
    AC093427, AL357078, AL606517
    Consensus CDS
    CCDS41346.1
    UniProtKB/Swiss-Prot
    P23458
    Related
    ENSP00000499900.1, ENST00000672434.1
    Conserved Domains (7) summary
    cd05079
    Location:8701153
    PTKc_Jak1_rpt2; Catalytic (repeat 2) domain of the Protein Tyrosine Kinase, Janus kinase 1
    smart00219
    Location:8751149
    TyrKc; Tyrosine kinase, catalytic domain
    smart00295
    Location:37286
    B41; Band 4.1 homologues
    cd05077
    Location:583846
    PTK_Jak1_rpt1; Pseudokinase (repeat 1) domain of the Protein Tyrosine Kinase, Janus kinase 1
    cd13332
    Location:282426
    FERM_C_JAK1; FERM domain C-lobe of Janus kinase 1
    pfam07714
    Location:583845
    Pkinase_Tyr; Protein tyrosine kinase
    cl15255
    Location:426527
    SH2; Src homology 2 (SH2) domain
  4. NM_001321854.2NP_001308783.1  tyrosine-protein kinase JAK1 isoform 1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5) initiates from an upstream promoter compared to variant 1.
    Source sequence(s)
    AC093427, AL357078
    Consensus CDS
    CCDS41346.1
    UniProtKB/Swiss-Prot
    P23458
    Conserved Domains (7) summary
    cd05079
    Location:8701153
    PTKc_Jak1_rpt2; Catalytic (repeat 2) domain of the Protein Tyrosine Kinase, Janus kinase 1
    smart00219
    Location:8751149
    TyrKc; Tyrosine kinase, catalytic domain
    smart00295
    Location:37286
    B41; Band 4.1 homologues
    cd05077
    Location:583846
    PTK_Jak1_rpt1; Pseudokinase (repeat 1) domain of the Protein Tyrosine Kinase, Janus kinase 1
    cd13332
    Location:282426
    FERM_C_JAK1; FERM domain C-lobe of Janus kinase 1
    pfam07714
    Location:583845
    Pkinase_Tyr; Protein tyrosine kinase
    cl15255
    Location:426527
    SH2; Src homology 2 (SH2) domain
  5. NM_001321855.2NP_001308784.1  tyrosine-protein kinase JAK1 isoform 1

    Status: REVIEWED

    Source sequence(s)
    AC093427, AL606517
    Consensus CDS
    CCDS41346.1
    UniProtKB/Swiss-Prot
    P23458
    Related
    ENSP00000499884.1, ENST00000672247.1
    Conserved Domains (7) summary
    cd05079
    Location:8701153
    PTKc_Jak1_rpt2; Catalytic (repeat 2) domain of the Protein Tyrosine Kinase, Janus kinase 1
    smart00219
    Location:8751149
    TyrKc; Tyrosine kinase, catalytic domain
    smart00295
    Location:37286
    B41; Band 4.1 homologues
    cd05077
    Location:583846
    PTK_Jak1_rpt1; Pseudokinase (repeat 1) domain of the Protein Tyrosine Kinase, Janus kinase 1
    cd13332
    Location:282426
    FERM_C_JAK1; FERM domain C-lobe of Janus kinase 1
    pfam07714
    Location:583845
    Pkinase_Tyr; Protein tyrosine kinase
    cl15255
    Location:426527
    SH2; Src homology 2 (SH2) domain
  6. NM_001321856.1NP_001308785.1  tyrosine-protein kinase JAK1 isoform 1

    Status: REVIEWED

    Source sequence(s)
    AC093427, AL606517
    Consensus CDS
    CCDS41346.1
    UniProtKB/Swiss-Prot
    P23458
    Related
    ENSP00000500296.1, ENST00000672179.1
    Conserved Domains (7) summary
    cd05079
    Location:8701153
    PTKc_Jak1_rpt2; Catalytic (repeat 2) domain of the Protein Tyrosine Kinase, Janus kinase 1
    smart00219
    Location:8751149
    TyrKc; Tyrosine kinase, catalytic domain
    smart00295
    Location:37286
    B41; Band 4.1 homologues
    cd05077
    Location:583846
    PTK_Jak1_rpt1; Pseudokinase (repeat 1) domain of the Protein Tyrosine Kinase, Janus kinase 1
    cd13332
    Location:282426
    FERM_C_JAK1; FERM domain C-lobe of Janus kinase 1
    pfam07714
    Location:583845
    Pkinase_Tyr; Protein tyrosine kinase
    cl15255
    Location:426527
    SH2; Src homology 2 (SH2) domain
  7. NM_001321857.2NP_001308786.1  tyrosine-protein kinase JAK1 isoform 2

    Status: REVIEWED

    Source sequence(s)
    AC093427, AL606517
    Conserved Domains (7) summary
    cd05079
    Location:8691152
    PTKc_Jak1_rpt2; Catalytic (repeat 2) domain of the Protein Tyrosine Kinase, Janus kinase 1
    smart00219
    Location:8741148
    TyrKc; Tyrosine kinase, catalytic domain
    smart00295
    Location:37286
    B41; Band 4.1 homologues
    cd05077
    Location:582845
    PTK_Jak1_rpt1; Pseudokinase (repeat 1) domain of the Protein Tyrosine Kinase, Janus kinase 1
    cd13332
    Location:282426
    FERM_C_JAK1; FERM domain C-lobe of Janus kinase 1
    pfam07714
    Location:582844
    Pkinase_Tyr; Protein tyrosine kinase
    cl15255
    Location:426526
    SH2; Src homology 2 (SH2) domain
  8. NM_002227.4NP_002218.2  tyrosine-protein kinase JAK1 isoform 1

    See identical proteins and their annotated locations for NP_002218.2

    Status: REVIEWED

    Source sequence(s)
    AB209057, AC093427, AL606517, BC009079
    Consensus CDS
    CCDS41346.1
    UniProtKB/Swiss-Prot
    P23458
    Related
    ENSP00000343204.4, ENST00000342505.5
    Conserved Domains (7) summary
    cd05079
    Location:8701153
    PTKc_Jak1_rpt2; Catalytic (repeat 2) domain of the Protein Tyrosine Kinase, Janus kinase 1
    smart00219
    Location:8751149
    TyrKc; Tyrosine kinase, catalytic domain
    smart00295
    Location:37286
    B41; Band 4.1 homologues
    cd05077
    Location:583846
    PTK_Jak1_rpt1; Pseudokinase (repeat 1) domain of the Protein Tyrosine Kinase, Janus kinase 1
    cd13332
    Location:282426
    FERM_C_JAK1; FERM domain C-lobe of Janus kinase 1
    pfam07714
    Location:583845
    Pkinase_Tyr; Protein tyrosine kinase
    cl15255
    Location:426527
    SH2; Src homology 2 (SH2) 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_000001.11 Reference GRCh38.p13 Primary Assembly

    Range
    64833223..65067746 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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