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, interferon-gamm... See more...

Aliases for JAK1 Gene

Aliases for JAK1 Gene

  • Janus Kinase 1 2 3 4 5
  • JAK1A 2 3 4
  • Tyrosine-Protein Kinase JAK1 3 4
  • EC 2.7.10.2 4 51
  • JAK1B 3 4
  • JTK3 2 3
  • EC 2.7.10 51
  • AIIDE 3
  • JAK-1 4
  • JAK1 5

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, interferon-gamma, and cytokine signal transduction. This gene plays a crucial role in effecting the expression of genes that mediate inflammation, epithelial remodeling, and metastatic cancer progression. This gene is a key component of the interleukin-6 (IL-6)/JAK1/STAT3 immune and inflammation response and is a therapeutic target for alleviating cytokine storms. The kinase activity of this gene is directly inhibited by the suppressor of cytokine signalling 1 (SOCS1) protein. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2020]

CIViC Summary for JAK1 Gene

GeneCards Summary for JAK1 Gene

JAK1 (Janus Kinase 1) is a Protein Coding gene. Diseases associated with JAK1 include Autoinflammation, Immune Dysregulation, And Eosinophilia and Autosomal Recessive Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Jak1 Deficiency. Among its related pathways are Regulation of lipid metabolism Insulin signaling-generic cascades and Signaling by GPCR. Gene Ontology (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 Summary 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) as well as interleukin (IL)-10 receptor (PubMed:12133952).

Gene Wiki entry for JAK1 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for JAK1 Gene

Genomics for JAK1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for JAK1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH01J065064 Promoter/Enhancer 2.3 FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 256.4 +0.8 833 6.6 ZSCAN16 TBP ZBTB10 MNT IKZF1 SMAD5 IRF2 MBD2 NONO ZIC2 JAK1 HSALNG0004184 lnc-JAK1-2 AK4 RNU6-1176P ENSG00000237852 LEPROT LEPR MIR101-1 lnc-AK4-2
GH01J064896 Promoter/Enhancer 1.7 FANTOM5 Ensembl ENCODE dbSUPER 20.4 +169.6 169622 3.1 CEBPA IKZF1 HES1 ZFP64 ZNF217 ZEB1 ELF1 NONO ZIC2 HOMEZ JAK1 RNU6-1176P AK4 RAVER2 piR-41306-011 lnc-ITGB3BP-13 lnc-AK4-1
GH01J064863 Promoter/Enhancer 1.5 Ensembl ENCODE dbSUPER 22.9 +202.9 202936 2.4 TBP SP1 BCL11A MNT IKZF1 IRF2 HES1 MBD2 POLR2A BHLHE40 JAK1 DNAJC6 RAVER2 lnc-ITGB3BP-13 lnc-ITGB3BP-12 lnc-AK4-1
GH01J064932 Promoter/Enhancer 1.6 FANTOM5 Ensembl ENCODE dbSUPER 21.8 +133.9 133919 2.8 CEBPA IKZF1 CEBPB FOXA2 ZNF639 SAP130 RXRA BCL6 JUND FOSL1 JAK1 MIR101-1 AK4 LEPROT LEPR lnc-RAVER2-3 ENSG00000234784 lnc-AK4-1 RAVER2
GH01J064914 Enhancer 1.3 FANTOM5 ENCODE dbSUPER 23 +150.9 150890 3.9 CEBPA FOXA1 MNT IKZF1 ZNF217 NONO HOMEZ KDM6A THAP11 CEBPB ENSG00000234784 LOC100130270 lnc-RAVER2-2 JAK1 RAVER2 piR-41306-011 lnc-AK4-1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around JAK1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for JAK1

Top Transcription factor binding sites by QIAGEN in the JAK1 gene promoter:
  • Oct-B1
  • oct-B2
  • oct-B3
  • POU2F1
  • POU2F1a
  • POU2F2
  • POU2F2 (Oct-2.1)
  • POU2F2B
  • POU2F2C
  • ZID

Genomic Locations for JAK1 Gene

Latest Assembly
chr1:64,833,229-65,067,754
(GRCh38/hg38)
Size:
234,526 bases
Orientation:
Minus strand

Previous Assembly
chr1:65,298,912-65,533,429
(GRCh37/hg19 by Entrez Gene)
Size:
234,518 bases
Orientation:
Minus strand

chr1:65,298,912-65,432,187
(GRCh37/hg19 by Ensembl)
Size:
133,276 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 (via N-terminus) with IL2RB and IL10RA (via its cytoplasmic domain) (PubMed:12133952). Interacts with FER (By similarity).
    SequenceCaution:
    • Sequence=AAA36527.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305}; Sequence=AAA36527.1; Type=Frameshift; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for JAK1 Gene

neXtProt entry for JAK1 Gene

Selected DME Specific Peptides for JAK1 Gene

P23458:
  • DAHHYLC
  • RDLAARN
  • PFIKLSDPG
  • FFEAASMM
  • QLASALSYLE
  • DSPVFWYAPECL
  • EITHIVIK
  • FGTTLWEIC
  • PWIAPECV
  • ECLGMAVL
  • AARNVLV

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).
  • Ubiquitinated by RNF125; leading to its degradation by the proteasome.
  • Glycosylation at Asn769
  • Ubiquitination at Lys213, Lys227, Lys245, Lys249, and Lys269
  • Modification sites at PhosphoSitePlus
  • Glycosylation from GlyConnect

Antibodies for research

  • Abcam antibodies for JAK1

Domains & Families for JAK1 Gene

Gene Families for JAK1 Gene

HGNC:
IUPHAR :
Human Protein Atlas (HPA):
  • Cancer-related genes
  • Enzymes
  • FDA approved drug targets
  • Plasma proteins
  • Predicted intracellular proteins

Suggested Antigen Peptide Sequences for JAK1 Gene

GenScript: Design optimal peptide antigens:
  • Janus kinase 1 (JAK1_HUMAN)
  • JAK1 protein (Q0VGA4_HUMAN)
  • Janus kinase 1 (Q4LDX3_HUMAN)
  • JAK1 protein (Q6P669_HUMAN)
  • JAK1 protein (Q8IV82_HUMAN)

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.
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

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) as well as interleukin (IL)-10 receptor (PubMed:12133952).
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=ATP + L-tyrosyl-[protein] = ADP + H(+) + O-phospho-L-tyrosyl-[protein]; Xref=Rhea:RHEA:10596, Rhea:RHEA-COMP:10136, Rhea:RHEA-COMP:10137, ChEBI:CHEBI:15378, ChEBI:CHEBI:30616, ChEBI:CHEBI:46858, ChEBI:CHEBI:82620, ChEBI:CHEBI:456216; EC=2.7.10.2; Evidence={ECO:0000255|PROSITE-ProRule:PRU10028, ECO:0000269|PubMed:1848670, ECO:0000269|PubMed:7615558};.
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

Enzyme Numbers (IUBMB) for JAK1 Gene

Phenotypes From GWAS Catalog for JAK1 Gene

Gene Ontology (GO) - Molecular Function for JAK1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000166 nucleotide binding IEA --
GO:0004672 protein kinase activity IEA --
GO:0004713 protein tyrosine kinase activity IEA,TAS --
GO:0004715 non-membrane spanning protein tyrosine kinase activity IEA,TAS --
GO:0005131 growth hormone receptor binding ISS 10502458
genes like me logo Genes that share ontologies with JAK1: view
genes like me logo Genes that share phenotypes with JAK1: view

Human Phenotype Ontology for JAK1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for JAK1 Gene

MGI Knock Outs for JAK1:

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for JAK1

No data available for 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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for JAK1 gene
Compartment Confidence
nucleus 5
cytosol 5
endosome 4
plasma membrane 3
extracellular 3
cytoskeleton 3
mitochondrion 2
endoplasmic reticulum 2
lysosome 2
golgi apparatus 2
peroxisome 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:0005768 endosome TAS --
GO:0005829 cytosol TAS --
GO:0005856 cytoskeleton IEA --
genes like me logo Genes that share ontologies with JAK1: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for JAK1 Gene

Pathways & Interactions for JAK1 Gene

PathCards logo

SuperPathways for JAK1 Gene

SuperPathway Contained pathways
1 RET signaling
2 Common Cytokine Receptor Gamma-Chain Family Signaling Pathways
.42
.36
3 Th17 cell differentiation
.36
.01
4 ErbB signaling pathway
5 Measles
.35
genes like me logo Genes that share pathways with JAK1: view

Pathways by source for JAK1 Gene

16 GeneGo (Thomson Reuters) pathways for JAK1 Gene
  • Cell adhesion PLAU signaling
  • Cytokine production by Th17 cells in CF
  • Development CNTF receptor signaling
  • Development EGFR signaling pathway
  • Development PDGF signaling via STATs and NF-kB
22 Qiagen pathways for JAK1 Gene
  • Akt Signaling
  • CNTF Signaling
  • Colorectal Cancer Metastasis
  • EGF Pathway
  • ErbB2-ErbB3 Heterodimers
1 Cell Signaling Technology pathway for JAK1 Gene
1 GeneTex pathway 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 IEA,TAS 1848670
GO:0016310 phosphorylation IEA --
GO:0018108 peptidyl-tyrosine phosphorylation IEA --
GO:0019221 cytokine-mediated signaling pathway TAS --
genes like me logo Genes that share ontologies with JAK1: view

Drugs & Compounds for JAK1 Gene

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

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Baricitinib Approved, Investigational Pharma Target, inhibitor 0
Fedratinib Approved, Investigational Pharma Target, inhibitor 0
ruxolitinib Approved Pharma Target, inhibitor Kinase Inhibitors 0
Filgotinib Approved, Investigational Pharma Target, inhibitor 0
fostamatinib Approved, Investigational Pharma Target, inhibitor Kinase Inhibitors 0

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
ADP
  • 5'-Adenylphosphoric acid
  • Adenosine 5'-diphosphate
  • ADENOSINE-5'-diphosphATE
  • H3ADP
  • 5'-Adenylphosphate
58-64-0

(18) ApexBio Compounds for JAK1 Gene

Compound Action Cas Number
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
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

Drug products for research

Transcripts for JAK1 Gene

mRNA/cDNA for JAK1 Gene

8 REFSEQ mRNAs :
13 NCBI additional mRNA sequence :
21 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for JAK1

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

Expression for JAK1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE 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, MaxQB, and MOPED for JAK1 Gene



Protein tissue co-expression partners for JAK1 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for 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.

Evidence on tissue expression from TISSUES for JAK1 Gene

  • Nervous system(4.8)
  • Liver(4.7)
  • Spleen(3.6)
  • Blood(3.5)
  • Lymph node(3.3)
  • Heart(3.3)
  • Lung(3.2)
  • Kidney(3.2)
  • Muscle(3.1)
  • Intestine(3.1)
  • Bone marrow(3.1)
  • Skin(3.1)
  • Pancreas(2.8)
  • Stomach(2.5)
  • Thyroid gland(2.4)
  • Adrenal gland(2.2)
  • Eye(2.1)
genes like me logo Genes that share expression patterns with JAK1: view

Primer products for research

No data available for mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer 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
Chimpanzee
(Pan troglodytes)
Mammalia JAK1 30 31
  • 99.68 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia JAK1 30 31
  • 92.37 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia JAK1 30 31
  • 91.85 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Jak1 30 17 31
  • 89.5 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Jak1 30
  • 89.44 (n)
Oppossum
(Monodelphis domestica)
Mammalia -- 31
  • 85 (a)
OneToMany
-- 31
  • 72 (a)
OneToMany
-- 31
  • 70 (a)
OneToMany
Platypus
(Ornithorhynchus anatinus)
Mammalia JAK1 31
  • 76 (a)
OneToOne
Chicken
(Gallus gallus)
Aves JAK1 30 31
  • 75.49 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia -- 31
  • 78 (a)
OneToMany
-- 31
  • 41 (a)
OneToMany
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia jak1 30
  • 71.83 (n)
Str.19081 30
Zebrafish
(Danio rerio)
Actinopterygii jak1 30 31
  • 64.52 (n)
OneToOne
Rainbow Trout
(Oncorhynchus mykiss)
Actinopterygii Omy.9095 30
Worm
(Caenorhabditis elegans)
Secernentea T14E8.1a 32
  • 32 (a)
T14E8.1b 32
  • 32 (a)
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 35 (a)
OneToMany
Species where no ortholog for JAK1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (Ciona intestinalis)
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for JAK1: view image

Paralogs for JAK1 Gene

(13) SIMAP similar genes for JAK1 Gene using alignment to 5 proteins:

  • JAK1_HUMAN
  • Q0VGA4_HUMAN
  • Q4LDX3_HUMAN
  • Q6P669_HUMAN
  • Q8IV82_HUMAN
genes like me logo Genes that share paralogs with JAK1: view

Variants for JAK1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for JAK1 Gene

SNP ID Clinical significance and condition Chr 01 pos Variation AA Info Type
977461 Pathogenic: Autoinflammation, immune dysregulation, and eosinophilia 64,845,520(-) C/A
NM_002227.4(JAK1):c.2108G>T (p.Ser703Ile)
MISSENSE
rs1057519753 Likely Pathogenic: Acute myeloid leukemia; Lymphoblastic leukemia, acute, with lymphomatous features; Polycythemia vera; Leukemia, acute, ?X-linked 64,846,664(-) C/A
NM_002227.4(JAK1):c.1972G>T (p.Val658Phe)
MISSENSE
rs1129739 Benign: not provided 64,834,649(-) T/C
NM_002227.4(JAK1):c.3378A>G (p.Gln1126=)
SYNONYMOUS
rs145378558 Benign: not provided 64,869,304(-) G/A
NM_002227.4(JAK1):c.647+7C>T
INTRON
rs149968614 Not Provided: not specified 64,846,685(-) C/T
NM_002227.4(JAK1):c.1951G>A (p.Val651Met)
MISSENSE

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for JAK1 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

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)

Additional Variant Information for JAK1 Gene

Human Gene Mutation Database (HGMD)
JAK1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
JAK1

SNP Genotyping and Copy Number Assays for research

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

Disorders for JAK1 Gene

MalaCards: The human disease database

(51) MalaCards diseases for JAK1 Gene - From: OMI, CVR, GTR, ORP, COP, and GCD

Additional Disease Information for JAK1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
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 AF … Ziemiecki A (Molecular and cellular biology 1991) 2 3 4 23
  2. A polymorphism associated with STAT3 expression and response of chronic myeloid leukemia to interferon α. (PMID: 20065083) Kreil S … German CML Study Group (Haematologica 2010) 3 23 41
  3. 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 NK … Lucet IS (Journal of molecular biology 2009) 3 4 23
  4. Somatically acquired JAK1 mutations in adult acute lymphoblastic leukemia. (PMID: 18362173) Flex E … Tartaglia M (The Journal of experimental medicine 2008) 3 23 41
  5. Jamip1 (marlin-1) defines a family of proteins interacting with janus kinases and microtubules. (PMID: 15277531) Steindler C … Pellegrini S (The Journal of biological chemistry 2004) 3 4 23

Products for JAK1 Gene