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Aliases for JAK1 Gene

Aliases for JAK1 Gene

  • Janus Kinase 1 2 3 4 5
  • EC 2.7.10.2 4 61
  • JAK1B 3 4
  • JAK1A 3 4
  • Tyrosine-Protein Kinase JAK1 3
  • EC 2.7.10 61
  • JAK-1 4
  • JTK3 3

External Ids for JAK1 Gene

Previous HGNC Symbols for JAK1 Gene

  • JAK1B

Previous GeneCards Identifiers for JAK1 Gene

  • GC01M065247
  • GC01M064219
  • GC01M064656
  • GC01M064670
  • GC01M064668
  • GC01M065010
  • GC01M063407

Summaries for JAK1 Gene

Entrez Gene Summary for JAK1 Gene

  • 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]

GeneCards Summary for JAK1 Gene

JAK1 (Janus Kinase 1) is a Protein Coding gene. Diseases associated with JAK1 include Hepatitis C and Hepatitis. Among its related pathways are Interleukin-3, 5 and GM-CSF signaling and NFAT and Cardiac Hypertrophy. GO annotations related to this gene include transferase activity, transferring phosphorus-containing groups and protein tyrosine kinase activity. An important paralog of this gene is TYK2.

UniProtKB/Swiss-Prot for JAK1 Gene

  • Tyrosine kinase of the non-receptor type, involved in the IFN-alpha/beta/gamma signal pathway (PubMed:7615558). Kinase partner for the interleukin (IL)-2 receptor (PubMed:11909529).

Gene Wiki entry for JAK1 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for JAK1 Gene

Genomics for JAK1 Gene

Regulatory Elements for JAK1 Gene

Enhancers for JAK1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
- Elite enhancer/Elite enhancer-gene association

Enhancers around JAK1 on UCSC Golden Path with GeneCards custom track

Promoters for JAK1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

Genomic Location for JAK1 Gene

Chromosome:
1
Start:
64,833,223 bp from pter
End:
64,966,910 bp from pter
Size:
133,688 bases
Orientation:
Minus strand

Genomic View for JAK1 Gene

Genes around JAK1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
JAK1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for JAK1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for JAK1 Gene

Proteins for JAK1 Gene

  • Protein details for JAK1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P23458-JAK1_HUMAN
    Recommended name:
    Tyrosine-protein kinase JAK1
    Protein Accession:
    P23458
    Secondary Accessions:
    • Q59GQ2
    • Q9UD26

    Protein attributes for JAK1 Gene

    Size:
    1154 amino acids
    Molecular mass:
    133277 Da
    Cofactor:
    Name=Mg(2+); Xref=ChEBI:CHEBI:18420;
    Quaternary structure:
    • Interacts with IL31RA (PubMed:15194700). Interacts with IFNAR2 (PubMed:7759950). Interacts with IFNGR1 (PubMed:7615558). Interacts with JAKMIP1 (PubMed:15277531). Interacts with SHB (PubMed:12200137). Interacts with FER (By similarity).
    SequenceCaution:
    • Sequence=AAA36527.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=AAA36527.1; Type=Frameshift; Positions=858, 862; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for JAK1 Gene

neXtProt entry for JAK1 Gene

Post-translational modifications for JAK1 Gene

  • Autophosphorylated (PubMed:7615558). Phosphorylated on tyrosine residues in response to interferon gamma signaling (PubMed:7615558). Dephosphorylation of Tyr-1034 and Tyr-1035 by PTPN2 negatively regulates cytokine-mediated signaling (PubMed:11909529).
  • Ubiquitination at Lys 213, Lys 227, Lys 245, Lys 249, and Lys 269
  • Modification sites at PhosphoSitePlus

Other Protein References for JAK1 Gene

Domains & Families for JAK1 Gene

Gene Families for JAK1 Gene

Suggested Antigen Peptide Sequences for JAK1 Gene

Graphical View of Domain Structure for InterPro Entry

P23458

UniProtKB/Swiss-Prot:

JAK1_HUMAN :
  • Possesses two phosphotransferase domains. The second one probably contains the catalytic domain, while the presence of slight differences suggest a different role for domain 1.
  • Belongs to the protein kinase superfamily. Tyr protein kinase family. JAK subfamily.
Domain:
  • Possesses two phosphotransferase domains. The second one probably contains the catalytic domain, while the presence of slight differences suggest a different role for domain 1.
  • The FERM domain mediates interaction with JAKMIP1.
  • Contains 1 FERM domain.
  • Contains 2 protein kinase domains.
  • Contains 1 SH2 domain.
Family:
  • Belongs to the protein kinase superfamily. Tyr protein kinase family. JAK subfamily.
genes like me logo Genes that share domains with JAK1: view

Function for JAK1 Gene

Molecular function for JAK1 Gene

GENATLAS Biochemistry:
Janus tyrosine kinase 1A,non receptor type,class III,murine FD-22 homolog,widely expressed,involved in signal transduction of several hematopoietic cytokine receptors,mediating the activation of STAT proteins
UniProtKB/Swiss-Prot CatalyticActivity:
ATP + a [protein]-L-tyrosine = ADP + a [protein]-L-tyrosine phosphate.
UniProtKB/Swiss-Prot Function:
Tyrosine kinase of the non-receptor type, involved in the IFN-alpha/beta/gamma signal pathway (PubMed:7615558). Kinase partner for the interleukin (IL)-2 receptor (PubMed:11909529).

Enzyme Numbers (IUBMB) for JAK1 Gene

Gene Ontology (GO) - Molecular Function for JAK1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004713 protein tyrosine kinase activity IEA,TAS --
GO:0004715 non-membrane spanning protein tyrosine kinase activity TAS --
GO:0005088 Ras guanyl-nucleotide exchange factor activity TAS --
GO:0005102 receptor binding IBA --
GO:0005131 growth hormone receptor binding IEA,ISS 10502458
genes like me logo Genes that share ontologies with JAK1: view
genes like me logo Genes that share phenotypes with JAK1: view

Animal Models for JAK1 Gene

MGI Knock Outs for JAK1:

Animal Model Products

  • Taconic Biosciences Mouse Models for JAK1

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for JAK1

Flow Cytometry Products

No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for JAK1 Gene

Localization for JAK1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for JAK1 Gene

Endomembrane system; Peripheral membrane protein. Note=Wholly intracellular, possibly membrane associated.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for JAK1 Gene COMPARTMENTS Subcellular localization image for JAK1 gene
Compartment Confidence
cytosol 5
nucleus 5
plasma membrane 4
cytoskeleton 3
extracellular 2
endoplasmic reticulum 1
mitochondrion 1

Gene Ontology (GO) - Cellular Components for JAK1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA 10502458
GO:0005737 cytoplasm IDA 10502458
GO:0005829 cytosol TAS --
GO:0005856 cytoskeleton IEA --
GO:0005925 focal adhesion IDA 21423176
genes like me logo Genes that share ontologies with JAK1: view

Pathways & Interactions for JAK1 Gene

SuperPathways for JAK1 Gene

Superpath Contained pathways
1 Interleukin-3, 5 and GM-CSF signaling
2 IL-7 Signaling Pathways
3 Influenza A
.35
4 IL27-mediated signaling events
5 IL-2 Pathway
genes like me logo Genes that share pathways with JAK1: view

SIGNOR curated interactions for JAK1 Gene

Gene Ontology (GO) - Biological Process for JAK1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000165 MAPK cascade TAS --
GO:0006468 protein phosphorylation TAS 1848670
GO:0007169 transmembrane receptor protein tyrosine kinase signaling pathway IBA --
GO:0016477 cell migration IBA --
GO:0030154 cell differentiation IBA --
genes like me logo Genes that share ontologies with JAK1: view

Drugs & Compounds for JAK1 Gene

(53) Drugs for JAK1 Gene - From: DrugBank, ApexBio, DGIdb, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
ruxolitinib Approved Pharma inhibitor, Target Kinase Inhibitors 0
Tofacitinib Approved, Investigational Pharma Target, inhibitor 98
Adenosine triphosphate Approved Nutra 0
2-(1,1-DIMETHYLETHYL)9-FLUORO-3,6-DIHYDRO-7H-BENZ[H]-IMIDAZ[4,5-F]ISOQUINOLIN-7-ONE Experimental Pharma Target 0
3-{(3R,4R)-4-methyl-3-[methyl(7H-pyrrolo[2,3-d]pyrimidin-4-yl)amino]piperidin-1-yl}-3-oxopropanenitrile Experimental Pharma Target 0

(17) Additional Compounds for JAK1 Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
ADP
  • Adenosindiphosphorsaeure
  • Adenosine 5'-pyrophosphate
  • Adenosine diphosphate
  • Adenosine pyrophosphate
  • Adenosine-5'-diphosphate
Full agonist, Agonist 58-64-0

(22) ApexBio Compounds for JAK1 Gene

Compound Action Cas Number
(3R,4S)-Tofacitinib 1092578-46-5
(3S,4R)-Tofacitinib 1092578-48-7
(3S,4S)-Tofacitinib 1092578-47-6
AZ 960 JAKs inhibitor 905586-69-8
Bardoxolone methyl IKK inhibitor, potent antioxidant inflammation modulator 218600-53-4
Baricitinib (LY3009104, INCB028050) JAK1/JAK2 inhibitor,selective orally bioavailable 1187594-09-7
Baricitinib phosphate JAK1/JAK2 inhibitor 1187595-84-1
Cerdulatinib Syk/JAK inhibitor 1198300-79-6
CYT387 JAK-1/-2 inhibitor,ATP competitive 1056634-68-4
CYT387 sulfate salt JAK1/JAK2 inhibitor 1056636-06-6
GLPG0634 JAK1 inhibitor 1206161-97-8
NVP-BSK805 ATP-competitive JAK2 inhibitor 1092499-93-8
Peficitinb (ASP015K, JNJ-54781532) JAK inhibitor 944118-01-8
Pyridone 6 Pan-JAK inhibitor 457081-03-7
Ruxolitinib (INCB018424) JAK inhibitor 941678-49-5
Ruxolitinib phosphate JAK1/JAK2 inhibitor 1092939-17-7
Ruxolitinib sulfate JAK inhibitor 1092939-16-6
S-Ruxolitinib (INCB018424) JAK1/2 inhibitor,potent and selective 941685-37-6
Tofacitinib (CP-690550) Citrate Potent JAK inhibitor 540737-29-9
Tofacitinib (CP-690550,Tasocitinib) Janus kinase inhibitor 477600-75-2
WHI-P154 JAK3 inhibitor 211555-04-3
ZM 39923 HCl JAK3 inhibitor,potent and selective 1021868-92-7
genes like me logo Genes that share compounds with JAK1: view

Transcripts for JAK1 Gene

Unigene Clusters for JAK1 Gene

Janus kinase 1:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for JAK1

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for JAK1 Gene

ExUns: 1 ^ 2a · 2b ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10a · 10b ^ 11 ^ 12a · 12b · 12c ^ 13 ^ 14 ^ 15a · 15b ^ 16 ^ 17 ^ 18 ^ 19a · 19b · 19c ^
SP1: - - - -
SP2:
SP3: - - -
SP4: -
SP5: -
SP6: - -
SP7:
SP8:

ExUns: 20a · 20b ^ 21 ^ 22 ^ 23 ^ 24 ^ 25 ^ 26 ^ 27a · 27b
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:

Relevant External Links for JAK1 Gene

GeneLoc Exon Structure for
JAK1
ECgene alternative splicing isoforms for
JAK1

Expression for JAK1 Gene

mRNA expression in normal human tissues for JAK1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for JAK1 Gene

This gene is overexpressed in Lymph node (15.9), Peripheral blood mononuclear cells (15.6), and Adrenal (7.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for JAK1 Gene



Protein tissue co-expression partners for JAK1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of JAK1 Gene:

JAK1

SOURCE GeneReport for Unigene cluster for JAK1 Gene:

Hs.207538

mRNA Expression by UniProt/SwissProt for JAK1 Gene:

P23458-JAK1_HUMAN
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.
genes like me logo Genes that share expression patterns with JAK1: view

Primer Products

No data available for mRNA differential expression in normal tissues for JAK1 Gene

Orthologs for JAK1 Gene

This gene was present in the common ancestor of animals.

Orthologs for JAK1 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia JAK1 34
  • 91.85 (n)
  • 97.22 (a)
JAK1 35
  • 97 (a)
OneToOne
dog
(Canis familiaris)
Mammalia JAK1 34
  • 92.37 (n)
  • 98.01 (a)
JAK1 35
  • 98 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Jak1 34
  • 89.5 (n)
  • 95.05 (a)
Jak1 16
Jak1 35
  • 95 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia JAK1 34
  • 99.68 (n)
  • 99.91 (a)
JAK1 35
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Jak1 34
  • 89.44 (n)
  • 94.79 (a)
oppossum
(Monodelphis domestica)
Mammalia -- 35
  • 70 (a)
OneToMany
-- 35
  • 85 (a)
OneToMany
-- 35
  • 72 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia JAK1 35
  • 76 (a)
OneToOne
chicken
(Gallus gallus)
Aves JAK1 34
  • 75.49 (n)
  • 81.79 (a)
JAK1 35
  • 82 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia -- 35
  • 78 (a)
OneToMany
-- 35
  • 41 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia jak1 34
  • 71.83 (n)
  • 77.73 (a)
Str.19081 34
zebrafish
(Danio rerio)
Actinopterygii jak1 34
  • 64.52 (n)
  • 63.6 (a)
jak1 35
  • 63 (a)
OneToOne
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.9095 34
worm
(Caenorhabditis elegans)
Secernentea T14E8.1a 36
  • 32 (a)
T14E8.1b 36
  • 32 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 35 (a)
OneToMany
Species where no ortholog for JAK1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for JAK1 Gene

ENSEMBL:
Gene Tree for JAK1 (if available)
TreeFam:
Gene Tree for JAK1 (if available)

Paralogs for JAK1 Gene

Paralogs for JAK1 Gene

genes like me logo Genes that share paralogs with JAK1: view

Variants for JAK1 Gene

Sequence variations from dbSNP and Humsavar for JAK1 Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type
rs34680086 - 64,838,513(+) ATTTT(G/T)TTCTT reference, missense
rs167454 -- 64,837,418(-) CAGCC(A/G)GGAAC intron-variant
rs172659 -- 64,928,960(+) CCTCA(A/G)AATAA intron-variant
rs182574 -- 64,916,770(+) aggca(A/G)aggtt intron-variant
rs184305 -- 64,926,268(+) CACTA(A/G)ATCTT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for JAK1 Gene

Variant ID Type Subtype PubMed ID
dgv172n100 CNV gain 25217958
esv2421783 CNV deletion 20811451
esv2671749 CNV deletion 23128226
esv275588 CNV loss 21479260
esv2763311 CNV gain 21179565
esv3577904 CNV loss 25503493
esv3578582 CNV gain 25503493
esv3586273 CNV loss 21293372
nsv1005169 CNV gain 25217958
nsv1006347 CNV gain+loss 25217958
nsv1126199 CNV deletion 24896259
nsv525227 CNV loss 19592680
nsv823098 CNV loss 20364138
nsv830059 CNV loss 17160897
nsv945979 CNV duplication 23825009

Variation tolerance for JAK1 Gene

Residual Variation Intolerance Score: 4.29% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.69; 32.19% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for JAK1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
JAK1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for JAK1 Gene

Disorders for JAK1 Gene

MalaCards: The human disease database

(10) MalaCards diseases for JAK1 Gene - From: DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
hepatitis c
  • chronic hepatitis c
hepatitis
  • acute and subacute liver necrosis
myelofibrosis
  • agnogenic myeloid metaplasia
polycythemia
  • erythrocythemia
polycythemia vera, somatic
  • polycythemia vera
- elite association - COSMIC cancer census association via MalaCards
Search JAK1 in MalaCards View complete list of genes associated with diseases

Relevant External Links for JAK1

Genetic Association Database (GAD)
JAK1
Human Genome Epidemiology (HuGE) Navigator
JAK1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
JAK1
genes like me logo Genes that share disorders with JAK1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for JAK1 Gene

Publications for JAK1 Gene

  1. Two novel protein-tyrosine kinases, each with a second phosphotransferase-related catalytic domain, define a new class of protein kinase. (PMID: 1848670) Wilks A.F. … Ziemiecki A. (Mol. Cell. Biol. 1991) 2 3 4 22 65
  2. Dissecting specificity in the Janus kinases: the structures of JAK- specific inhibitors complexed to the JAK1 and JAK2 protein tyrosine kinase domains. (PMID: 19361440) Williams N.K. … Lucet I.S. (J. Mol. Biol. 2009) 3 4 22 65
  3. Somatically acquired JAK1 mutations in adult acute lymphoblastic leukemia. (PMID: 18362173) Flex E. … Tartaglia M. (J. Exp. Med. 2008) 3 22 46 65
  4. The Jak kinases differentially associate with the alpha and beta (accessory factor) chains of the interferon gamma receptor to form a functional receptor unit capable of activating STAT transcription factors. (PMID: 7615558) Sakatsume M. … Finbloom D.S. (J. Biol. Chem. 1995) 3 4 22 65
  5. Hepatitis B viraemia: its heritability and association with common genetic variation in the interferon gamma signalling pathway. (PMID: 20980339) Huang H.H. … Yu M.W. (Gut 2011) 3 46 65

Products for JAK1 Gene

Sources for JAK1 Gene

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