Human Gene JAK1 (ENST00000342505.5_11) from GENCODE V47lift37
Description: Janus kinase 1, transcript variant 1 (from RefSeq NM_002227.4)
Gencode Transcript: ENST00000342505.5_11
Gencode Gene: ENSG00000162434.14_18
Transcript (Including UTRs)
Position: hg19 chr1:65,298,912-65,432,232 Size: 133,321 Total Exon Count: 25 Strand: -
Coding Region
Position: hg19 chr1:65,300,245-65,351,947 Size: 51,703 Coding Exon Count: 24
Data last updated at UCSC: 2024-08-22 23:36:26
Sequence and Links to Tools and Databases
Comments and Description Text from UniProtKB
ID: JAK1_HUMAN
DESCRIPTION: RecName: Full=Tyrosine-protein kinase JAK1; EC=2.7.10.2; AltName: Full=Janus kinase 1; Short=JAK-1;
FUNCTION: Tyrosine kinase of the non-receptor type, involved in the IFN-alpha/beta/gamma signal pathway. Kinase partner for the interleukin (IL)-2 receptor.CATALYTIC ACTIVITY: ATP + a [protein]-L-tyrosine = ADP + a [protein]-L-tyrosine phosphate.SUBUNIT: Interacts with FER (By similarity). Interacts with IL31RA, IFNAR2, JAKMIP1 and SHB.SUBCELLULAR LOCATION: Endomembrane system; Peripheral membrane protein. Note=Wholly intracellular, possibly membrane associated.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.DOMAIN: Possesses two phosphotransferase domains. The second one probably contains the catalytic domain (By similarity), while the presence of slight differences suggest a different role for domain 1.DOMAIN: The FERM domain mediates interaction with JAKMIP1.SIMILARITY: Belongs to the protein kinase superfamily. Tyr protein kinase family. JAK subfamily.SIMILARITY: Contains 1 FERM domain.SIMILARITY: Contains 1 protein kinase domain.SIMILARITY: Contains 1 SH2 domain.SEQUENCE CAUTION: Sequence=AAA36527.1; Type=Erroneous initiation; Note=Translation N-terminally extended; Sequence=AAA36527.1; Type=Frameshift; Positions=858, 862;
Primer design for this transcript
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
Common Gene Haplotype Alleles
Press "+" in the title bar above to open this section.
RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
Microarray Expression Data
Press "+" in the title bar above to open this section.
mRNA Secondary Structure of 3' and 5' UTRs
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.
Protein Domain and Structure Information
InterPro Domains: Graphical view of domain structure IPR019749 - Band_41_domain
IPR019748 - FERM_central
IPR000299 - FERM_domain
IPR011009 - Kinase-like_dom
IPR000719 - Prot_kinase_cat_dom
IPR017441 - Protein_kinase_ATP_BS
IPR001245 - Ser-Thr/Tyr_kinase_cat_dom
IPR000980 - SH2
IPR008266 - Tyr_kinase_AS
IPR020635 - Tyr_kinase_cat_dom
IPR016251 - Tyr_kinase_non-rcpt_Jak/Tyk2
IPR020776 - Tyr_kinase_non-rcpt_Jak1
Pfam Domains: PF00069 - Protein kinase domain
PF07714 - Protein tyrosine and serine/threonine kinase
PF17887 - Jak1 pleckstrin homology-like domain
PF18377 - FERM F2 acyl-CoA binding protein-like domain
PF18379 - FERM F1 ubiquitin-like domain
SCOP Domains: 47031 - Second domain of FERM
50729 - PH domain-like
56112 - Protein kinase-like (PK-like)
55550 - SH2 domain
Protein Data Bank (PDB) 3-D Structure
ModBase Predicted Comparative 3D Structure on P23458
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.
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.
Gene Ontology (GO) Annotations with Structured Vocabulary
Descriptions from all associated GenBank mRNAs
LF206529 - JP 2014500723-A/14032: Polycomb-Associated Non-Coding RNAs.AK314257 - Homo sapiens cDNA, FLJ95004.BC062431 - Homo sapiens Janus kinase 1 (a protein tyrosine kinase), mRNA (cDNA clone IMAGE:4692472), 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.MA442106 - JP 2018138019-A/14032: Polycomb-Associated Non-Coding RNAs.BX647675 - Homo sapiens mRNA; cDNA DKFZp686G2212 (from clone DKFZp686G2212).LF355792 - JP 2014500723-A/163295: Polycomb-Associated Non-Coding RNAs.LF355793 - JP 2014500723-A/163296: Polycomb-Associated Non-Coding RNAs.AB209057 - Homo sapiens mRNA for janus kinase 1 variant protein.LF206530 - JP 2014500723-A/14033: Polycomb-Associated Non-Coding RNAs.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.AB384826 - Synthetic construct DNA, clone: pF1KB3626, Homo sapiens JAK1 gene for tyrosine-protein kinase JAK1, complete cds, without stop codon, in Flexi system.LF355794 - JP 2014500723-A/163297: Polycomb-Associated Non-Coding RNAs.LF355795 - JP 2014500723-A/163298: Polycomb-Associated Non-Coding RNAs.LF355796 - JP 2014500723-A/163299: Polycomb-Associated Non-Coding RNAs.LF355797 - JP 2014500723-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.LF355798 - JP 2014500723-A/163301: Polycomb-Associated Non-Coding RNAs.LF355801 - JP 2014500723-A/163304: Polycomb-Associated Non-Coding RNAs.LF355802 - JP 2014500723-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.BC023604 - Homo sapiens Janus kinase 1 (a protein tyrosine kinase), mRNA (cDNA clone IMAGE:4301677), partial cds.LF355804 - JP 2014500723-A/163307: Polycomb-Associated Non-Coding RNAs.LF355805 - JP 2014500723-A/163308: Polycomb-Associated Non-Coding RNAs.LF355806 - JP 2014500723-A/163309: Polycomb-Associated Non-Coding RNAs.LF355807 - JP 2014500723-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.LF355809 - JP 2014500723-A/163312: Polycomb-Associated Non-Coding RNAs.LF355812 - JP 2014500723-A/163315: Polycomb-Associated Non-Coding RNAs.LF355813 - JP 2014500723-A/163316: Polycomb-Associated Non-Coding RNAs.JD556790 - Sequence 537814 from Patent EP1572962.MA591369 - JP 2018138019-A/163295: Polycomb-Associated Non-Coding RNAs.MA591370 - JP 2018138019-A/163296: Polycomb-Associated Non-Coding RNAs.MA442107 - JP 2018138019-A/14033: Polycomb-Associated Non-Coding RNAs.MA591371 - JP 2018138019-A/163297: Polycomb-Associated Non-Coding RNAs.MA591372 - JP 2018138019-A/163298: Polycomb-Associated Non-Coding RNAs.MA591373 - JP 2018138019-A/163299: Polycomb-Associated Non-Coding RNAs.MA591374 - JP 2018138019-A/163300: Polycomb-Associated Non-Coding RNAs.MA442108 - JP 2018138019-A/14034: Polycomb-Associated Non-Coding RNAs.MA591375 - JP 2018138019-A/163301: Polycomb-Associated Non-Coding RNAs.MA591378 - JP 2018138019-A/163304: Polycomb-Associated Non-Coding RNAs.MA591379 - JP 2018138019-A/163305: Polycomb-Associated Non-Coding RNAs.MA591380 - JP 2018138019-A/163306: Polycomb-Associated Non-Coding RNAs.MA591381 - JP 2018138019-A/163307: Polycomb-Associated Non-Coding RNAs.MA591382 - JP 2018138019-A/163308: Polycomb-Associated Non-Coding RNAs.MA591383 - JP 2018138019-A/163309: Polycomb-Associated Non-Coding RNAs.MA591384 - JP 2018138019-A/163310: Polycomb-Associated Non-Coding RNAs.MA591385 - JP 2018138019-A/163311: Polycomb-Associated Non-Coding RNAs.MA591386 - JP 2018138019-A/163312: Polycomb-Associated Non-Coding RNAs.MA591389 - JP 2018138019-A/163315: Polycomb-Associated Non-Coding RNAs.MA591390 - JP 2018138019-A/163316: Polycomb-Associated Non-Coding RNAs.LF355841 - JP 2014500723-A/163344: Polycomb-Associated Non-Coding RNAs.MA591418 - JP 2018138019-A/163344: Polycomb-Associated Non-Coding RNAs.
Biochemical and Signaling Pathways
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
Reactome (by CSHL, EBI, and GO) Protein P23458 (Reactome details) participates in the following event(s):R-HSA-451900 IL2RB binds JAK1
R-HSA-1264832 JAK1 binds IL7R
R-HSA-8950716 IL27RA binds JAK1
R-HSA-8987043 IL22RA1 binds JAK1
R-HSA-8987120 JAK1 binds IFNLR1
R-HSA-450027 Interleukin-2 receptor alpha:IL2 binds Interleukin-2 receptor beta
R-HSA-909720 IFN alpha/beta binds to IFNAR2
R-HSA-449978 IL7 binds IL7R:JAK1
R-HSA-449803 IL10 dimer binds IL10RA:JAK1
R-HSA-6788571 STAT1,STAT3,STAT6 bind IL13:IL13R type II
R-HSA-448427 Interleukin-27 binds Interleukin-27 receptor
R-HSA-8950210 Interleukin-27 dissociates from Interleukin-27 receptor
R-HSA-8963734 IL9 binds IL9R:JAK1 and IL2RG:JAK3
R-HSA-448661 IFNL1 binds IL10RB:TYK2 and IFNLR1:JAK1
R-HSA-448480 IL22 binds IL22RA1:JAK1 receptor complex
R-HSA-1067646 JAK1,JAK2,(TYK2) bind IL6ST
R-HSA-6784189 JAKs bind LIFR
R-HSA-6784204 JAKs bind OSMR
R-HSA-1169406 ISGylation of host proteins
R-HSA-452091 Phosphorylation of IL2RB Y338 enables SHC recruitment
R-HSA-452108 Phosphorylation of IL2RB Y338, Y392 or Y510 enables STAT recruitment
R-HSA-452122 JAK1 phosphorylates Y338, Y392 and Y510 of IL2RB
R-HSA-919404 Phosphorylated STAT5 is released
R-HSA-6786124 STAT3,STAT6 bind p-Y-IL4R
R-HSA-450063 Interleukin-2: IL2 receptor alpha:beta binds IL2 receptor gamma subunit
R-HSA-873926 Interaction of IFNG with IFNGR
R-HSA-909724 Recruitment of IFNAR1
R-HSA-449958 IL7:IL7R:JAK1 binds IL2RG:JAK3
R-HSA-449811 IL10 dimer:2xIL10RA1:JAK1 binds IL10RB:TYK2
R-HSA-6788582 STAT1,STAT3,STAT6 phosphorylation
R-HSA-8986480 IL26:IL20RA:JAK1 binds IL10RB:TYK2
R-HSA-8854645 IL22:IL22RA1:JAK1 binds IL10RB:TYK2
R-HSA-449976 IL11:IL11RA binds IL6ST:JAK1,JAK2,(TYK2)
R-HSA-1067651 IL6:IL6R-2 binds IL6ST:JAK1, JAK2, (TYK2)
R-HSA-1067688 IL6:IL6R binds IL6ST:JAK1,JAK2,(TYK2)
R-HSA-6783530 gp130:JAKs bind CNTFR
R-HSA-5696482 CTF1 binds LIFR:JAKs
R-HSA-6783556 LIFR:JAKs bind gp130:JAKs:CNTFR
R-HSA-6783681 LIF binds LIFR
R-HSA-452100 SHC1 bound to IL2 receptor is phosphorylated
R-HSA-452097 Recruited STAT5 is phosphorylated
R-HSA-909732 Phosphorylation of STAT2
R-HSA-909719 Recruitment of STAT2 to p-IFNAR1
R-HSA-909726 Phosphorylation of STAT1
R-HSA-909722 Release of p-STAT2:p-STAT1 dimer
R-HSA-997309 Dephosphorylation of STAT1 by SHP2
R-HSA-6786095 JAK1 phosphorylates STAT3,STAT6
R-HSA-8983394 IL15:IL15RA:p-Y-IL2RB:p-Y-JAK1:p-Y-IL2RG:p-Y-JAK3:p-Y-SHC1 binds GRB2
R-HSA-8987132 IL22:p‑Y251,p‑Y301‑IL22RA1:p‑JAK1:PTPN11:IL10RB:p‑TYK2 binds PTPN11
R-HSA-8987040 IFNL1:IFNLR1:p‑JAK1:IL10RB:p‑TYK2 phosphorylates IFNLR1
R-HSA-451942 Within the IL-2R complex JAK3 phosphorylates JAK1
R-HSA-873919 Phosphorylation of JAK2
R-HSA-877308 Dephosphorylation of JAKs by PTPs
R-HSA-873918 Transphosphorylation of JAK1
R-HSA-877269 SOCS-1 and SOCS-3 binds to p-JAK2
R-HSA-909729 Activation of JAK kinases
R-HSA-912680 Inhibition of JAK kinase activity by SOCS1/3
R-HSA-997314 Dephosphorylation of JAK1 by SHP1
R-HSA-1295519 IL7R is phosphorylated on Y499
R-HSA-1295516 IL7:p-Y449-IL7R:JAK1:IL2RG:JAK3 binds PI3K regulatory subunits
R-HSA-6785165 p-STAT5A, p-STAT5B dissociate from IL7:p-Y449-IL7R:JAK1:IL2RG:p-JAK3:p-STAT5A,p-STAT5B
R-HSA-8950448 STAT4 binds to IL12RB2 in Interleukin-12 receptor complex
R-HSA-8987129 JAK1 in IL24:IL20RA:JAK1:IL20RB is phosphorylated
R-HSA-6783552 OSM binds LIFR:JAKs,OSMR:JAKs
R-HSA-453111 Phosphorylated SHC recruits GRB2:SOS1
R-HSA-913374 Phosphorylated SHC1 recruits SHIP
R-HSA-873921 Binding of STAT1 to p-IFNGR1
R-HSA-873924 Phosphorylation of IFNGR1 by JAK kinases
R-HSA-873927 Release of STAT1 dimer from active receptor unit
R-HSA-909730 Phosphorylation of INFAR1 by TYK2
R-HSA-997311 Dephosphorylation of TYK2 by PTP1B
R-HSA-909718 Formation of p-STAT1 homodimer
R-HSA-6784323 IL10 dimer:2xp-Y-IL10RA:p-Y-JAK1:2xIL10RB:p-Y-TYK2 binds STAT3
R-HSA-6784791 p-Y705-STAT3 dissociates from IL10 dimer:2xp-Y-IL10RA:p-Y-JAK1:2xIL10RB:p-Y-TYK2:p-Y705-STAT3
R-HSA-8982163 IL19:IL20RA:p‑JAK1:IL20RB:STAT3 phosphorylates STAT3
R-HSA-1067659 Assembly of hexameric IL-6 receptor
R-HSA-6783524 OSM,LIF,CTF1 receptor complex binds gp130
R-HSA-508292 SYK binds IL2RB
R-HSA-508247 Gab2 binds the p85 subunit of Class 1A PI3 kinases
R-HSA-913424 The SHC1:SHIP1 complex is stabilized by GRB2
R-HSA-909552 Phosphorylation of STAT1 at Ser727
R-HSA-873922 Phosphorylation of STAT1 by JAK kinases
R-HSA-6784006 STAT3 is phosphorylated by p-Y-JAK1,P-Y-TYK2
R-HSA-508282 SYK is a substrate for JAK1
R-HSA-1112565 Tyrosine phosphorylated IL6ST binds STAT1,STAT3
R-HSA-1112708 PTPN11 binds p-Y759-IL6ST
R-HSA-1112755 SOCS3 binds IL6ST
R-HSA-1112604 Phosphorylated STATs are released
R-HSA-5672965 RAS GEFs promote RAS nucleotide exchange
R-HSA-1112602 Tyrosine phosphorylation of STAT1, STAT3 by IL6 receptor
R-HSA-1112703 PTPN11 is phosphorylated
R-HSA-1112690 PTPN11 binds CBL
R-HSA-9020558 Interleukin-2 signaling
R-HSA-1266695 Interleukin-7 signaling
R-HSA-6785807 Interleukin-4 and 13 signaling
R-HSA-9020956 Interleukin-27 signaling
R-HSA-8854691 Interleukin-20 family signaling
R-HSA-8983432 Interleukin-15 signaling
R-HSA-909733 Interferon alpha/beta signaling
R-HSA-6783783 Interleukin-10 signaling
R-HSA-8984722 Interleukin-35 Signalling
R-HSA-6788467 IL-6-type cytokine receptor ligand interactions
R-HSA-8985947 Interleukin-9 signaling
R-HSA-449836 Other interleukin signaling
R-HSA-9020958 Interleukin-21 signaling
R-HSA-1059683 Interleukin-6 signaling
R-HSA-1169408 ISG15 antiviral mechanism
R-HSA-451927 Interleukin-2 family signaling
R-HSA-449147 Signaling by Interleukins
R-HSA-447115 Interleukin-12 family signaling
R-HSA-877300 Interferon gamma signaling
R-HSA-913531 Interferon Signaling
R-HSA-6783589 Interleukin-6 family signaling
R-HSA-1169410 Antiviral mechanism by IFN-stimulated genes
R-HSA-1280215 Cytokine Signaling in Immune system
R-HSA-912694 Regulation of IFNA signaling
R-HSA-877312 Regulation of IFNG signaling
R-HSA-9020591 Interleukin-12 signaling
R-HSA-168256 Immune System
R-HSA-912526 Interleukin receptor SHC signaling
R-HSA-512988 Interleukin-3, 5 and GM-CSF signaling
R-HSA-5673001 RAF/MAP kinase cascade
R-HSA-5684996 MAPK1/MAPK3 signaling
R-HSA-5683057 MAPK family signaling cascades
R-HSA-162582 Signal Transduction
Other Names for This Gene
Alternate Gene Symbols: ENST00000342505.1, ENST00000342505.2, ENST00000342505.3, ENST00000342505.4, JAK1A, JAK1B, JAK1_HUMAN, NM_002227, P23458, Q59GQ2, Q9UD26, uc317wjg.1, uc317wjg.2UCSC ID: ENST00000342505.5_11RefSeq Accession: NM_002227.4
Protein: P23458
(aka JAK1_HUMAN)
Gene Model Information
Click here
for a detailed description of the fields of the table above.
Methods, Credits, and Use Restrictions
Click here
for details on how this gene model was made and data restrictions if any.