Human Gene JAK1 (ENST00000672179.1) Description and Page Index
  Description: Homo sapiens Janus kinase 1 (JAK1), transcript variant 7, mRNA. (from RefSeq NM_001321856)
RefSeq Summary (NM_001321856): 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]. Sequence Note: The RefSeq transcript and protein were derived from genomic sequence to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on alignments. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR1803611.121310.1 [ECO:0000332] RNAseq introns :: mixed/partial sample support SAMEA1965299, SAMEA1966682 [ECO:0000350] ##Evidence-Data-END##
Gencode Transcript: ENST00000672179.1
Gencode Gene: ENSG00000162434.13
Transcript (Including UTRs)
   Position: hg38 chr1:64,833,313-64,966,919 Size: 133,607 Total Exon Count: 25 Strand: -
Coding Region
   Position: hg38 chr1:64,834,562-64,886,264 Size: 51,703 Coding Exon Count: 24 

Page IndexSequence and LinksMalaCardsCTDRNA-Seq ExpressionMicroarray Expression
RNA StructureOther SpeciesmRNA DescriptionsPathwaysOther NamesMethods
Data last updated: 2019-09-04

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr1:64,833,313-64,966,919)mRNA (may differ from genome)Protein (1154 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaBioGPS
CGAPEnsemblEntrez GeneExonPrimerGeneCardsHGNC
LynxMGIOMIMPubMedStanford SOURCEWikipedia

-  MalaCards Disease Associations
  MalaCards Gene Search: JAK1
Diseases sorted by gene-association score: hepatitis c (12), polycythemia vera, somatic (9), jak3-deficient severe combined immunodeficiency (8), t-cell prolymphocytic leukemia (8), mixed lacrimal gland cancer (8), lactocele (7), chilblain lupus (7), fibrosarcoma (7), mouth disease (5), hepatitis (5), leech infestation (5), colonic disease (5), hepatocellular carcinoma (4), pancreatic cancer (2), myelofibrosis with myeloid metaplasia, somatic (2), colorectal cancer (1)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene
  • D013749 Tetrachlorodibenzodioxin
  • D000082 Acetaminophen
  • D002994 Clofibrate
  • D008627 Mercuric Chloride
  • C028474 1,4-bis(2-(3,5-dichloropyridyloxy))benzene
  • C014024 2,4,5,2',4',5'-hexachlorobiphenyl
  • C023514 2,6-dinitrotoluene
  • C548651 2-(1'H-indolo-3'-carbonyl)thiazole-4-carboxylic acid methyl ester
  • C012606 4-vinyl-1-cyclohexene dioxide
  • C041398 7,7'-dimethoxy-(4,4'-bi-1,3-benzodioxole)-5,5'-dicarboxylic acid dimethyl ester
          more ... click here to view the complete list

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 40.08 RPKM in Cells - Transformed fibroblasts
Total median expression: 934.72 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -30.60116-0.264 Picture PostScript Text
3' UTR -301.901249-0.242 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
Genome BrowserGenome BrowserNo orthologNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
MGIRGD    
Protein SequenceProtein Sequence    
AlignmentAlignment    

-  Descriptions from all associated GenBank mRNAs
  LF206529 - JP 2014500723-A/14032: Polycomb-Associated Non-Coding RNAs.
MA442106 - JP 2018138019-A/14032: Polycomb-Associated Non-Coding RNAs.
AB209057 - Homo sapiens mRNA for janus kinase 1 variant protein.
M64174 - Human protein-tyrosine kinase (JAK1) mRNA, complete cds.
BC132729 - Homo sapiens Janus kinase 1 (a protein tyrosine kinase), mRNA (cDNA clone MGC:164360 IMAGE:40146751), complete cds.
AB219242 - Homo sapiens JAK1 mRNA for janus kinase 1, complete cds.
HQ628631 - Homo sapiens Jak1 isoform B (JAK1) mRNA, complete cds, alternatively spliced.
AK314257 - Homo sapiens cDNA, FLJ95004.
AB384826 - Synthetic construct DNA, clone: pF1KB3626, Homo sapiens JAK1 gene for tyrosine-protein kinase JAK1, complete cds, without stop codon, in Flexi system.
BC062431 - Homo sapiens Janus kinase 1 (a protein tyrosine kinase), mRNA (cDNA clone IMAGE:4692472), partial cds.
BC023604 - Homo sapiens Janus kinase 1 (a protein tyrosine kinase), mRNA (cDNA clone IMAGE:4301677), partial cds.
BC009079 - Homo sapiens, Janus kinase 1 (a protein tyrosine kinase), clone IMAGE:3866791, mRNA.
BC111401 - Homo sapiens Janus kinase 1 (a protein tyrosine kinase), mRNA (cDNA clone IMAGE:4608694), partial cds.
BX647675 - Homo sapiens mRNA; cDNA DKFZp686G2212 (from clone DKFZp686G2212).
LF355792 - JP 2014500723-A/163295: Polycomb-Associated Non-Coding RNAs.
MA591369 - JP 2018138019-A/163295: Polycomb-Associated Non-Coding RNAs.
LF355793 - JP 2014500723-A/163296: Polycomb-Associated Non-Coding RNAs.
MA591370 - JP 2018138019-A/163296: Polycomb-Associated Non-Coding RNAs.
LF206530 - JP 2014500723-A/14033: Polycomb-Associated Non-Coding RNAs.
MA442107 - JP 2018138019-A/14033: Polycomb-Associated Non-Coding RNAs.
LF355794 - JP 2014500723-A/163297: Polycomb-Associated Non-Coding RNAs.
MA591371 - JP 2018138019-A/163297: Polycomb-Associated Non-Coding RNAs.
LF355795 - JP 2014500723-A/163298: Polycomb-Associated Non-Coding RNAs.
MA591372 - JP 2018138019-A/163298: Polycomb-Associated Non-Coding RNAs.
LF355796 - JP 2014500723-A/163299: Polycomb-Associated Non-Coding RNAs.
MA591373 - JP 2018138019-A/163299: Polycomb-Associated Non-Coding RNAs.
LF355797 - JP 2014500723-A/163300: Polycomb-Associated Non-Coding RNAs.
MA591374 - JP 2018138019-A/163300: Polycomb-Associated Non-Coding RNAs.
HW810164 - JP 2014533294-A/2: Combination of a phosphoinositide 3-kinase inhibitor and a modulator of the Janus Kinase 2 - Signal Transducer and Activator of Transcription 5 pathway.
JB778123 - Sequence 2 from Patent WO2013072392.
JB979743 - Sequence 2 from Patent WO2014006115.
LF206531 - JP 2014500723-A/14034: Polycomb-Associated Non-Coding RNAs.
MA442108 - JP 2018138019-A/14034: Polycomb-Associated Non-Coding RNAs.
LF355798 - JP 2014500723-A/163301: Polycomb-Associated Non-Coding RNAs.
MA591375 - JP 2018138019-A/163301: Polycomb-Associated Non-Coding RNAs.
LF355801 - JP 2014500723-A/163304: Polycomb-Associated Non-Coding RNAs.
MA591378 - JP 2018138019-A/163304: Polycomb-Associated Non-Coding RNAs.
LF355802 - JP 2014500723-A/163305: Polycomb-Associated Non-Coding RNAs.
MA591379 - JP 2018138019-A/163305: Polycomb-Associated Non-Coding RNAs.
AK128375 - Homo sapiens cDNA FLJ46518 fis, clone THYMU3033630.
LF355803 - JP 2014500723-A/163306: Polycomb-Associated Non-Coding RNAs.
MA591380 - JP 2018138019-A/163306: Polycomb-Associated Non-Coding RNAs.
LF355804 - JP 2014500723-A/163307: Polycomb-Associated Non-Coding RNAs.
MA591381 - JP 2018138019-A/163307: Polycomb-Associated Non-Coding RNAs.
LF355805 - JP 2014500723-A/163308: Polycomb-Associated Non-Coding RNAs.
MA591382 - JP 2018138019-A/163308: Polycomb-Associated Non-Coding RNAs.
LF355806 - JP 2014500723-A/163309: Polycomb-Associated Non-Coding RNAs.
MA591383 - JP 2018138019-A/163309: Polycomb-Associated Non-Coding RNAs.
LF355807 - JP 2014500723-A/163310: Polycomb-Associated Non-Coding RNAs.
MA591384 - JP 2018138019-A/163310: Polycomb-Associated Non-Coding RNAs.
BX648044 - Homo sapiens mRNA; cDNA DKFZp686D02183 (from clone DKFZp686D02183).
LF355808 - JP 2014500723-A/163311: Polycomb-Associated Non-Coding RNAs.
MA591385 - JP 2018138019-A/163311: Polycomb-Associated Non-Coding RNAs.
LF355809 - JP 2014500723-A/163312: Polycomb-Associated Non-Coding RNAs.
MA591386 - JP 2018138019-A/163312: Polycomb-Associated Non-Coding RNAs.
LF355812 - JP 2014500723-A/163315: Polycomb-Associated Non-Coding RNAs.
MA591389 - JP 2018138019-A/163315: Polycomb-Associated Non-Coding RNAs.
LF355813 - JP 2014500723-A/163316: Polycomb-Associated Non-Coding RNAs.
MA591390 - JP 2018138019-A/163316: Polycomb-Associated Non-Coding RNAs.
JD556790 - Sequence 537814 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  KEGG - Kyoto Encyclopedia of Genes and Genomes
hsa04630 - Jak-STAT signaling pathway
hsa05140 - Leishmaniasis
hsa05200 - Pathways in cancer
hsa05212 - Pancreatic cancer

BioCarta from NCI Cancer Genome Anatomy Project
h_il22bppathway - IL22 Soluble Receptor Signaling Pathway
h_il2rbPathway - IL-2 Receptor Beta Chain in T cell Activation
h_il4Pathway - IL 4 signaling pathway
h_stat3Pathway - Stat3 Signaling Pathway
h_egfPathway - EGF Signaling Pathway
h_ifnaPathway - IFN alpha signaling pathway
h_il7Pathway - IL-7 Signal Transduction
h_il6Pathway - IL 6 signaling pathway
h_il2Pathway - IL 2 signaling pathway
h_ifngPathway - IFN gamma signaling pathway
h_pdgfPathway - PDGF Signaling Pathway
h_il10Pathway - IL-10 Anti-inflammatory Signaling Pathway

-  Other Names for This Gene
  Alternate Gene Symbols: NM_001321856, uc288ljn.1
UCSC ID: uc288ljn.1
RefSeq Accession: NM_001321856
CCDS: CCDS41346.1

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.