JAK1 (Janus kinase 1) - Rat Genome Database

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Gene: JAK1 (Janus kinase 1) Homo sapiens
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Symbol: JAK1
Name: Janus kinase 1
RGD ID: 69102
HGNC Page HGNC:6190
Description: Enables non-membrane spanning protein tyrosine kinase activity; protein phosphatase binding activity; and ubiquitin protein ligase binding activity. Involved in several processes, including cell surface receptor signaling pathway via JAK-STAT; cytokine-mediated signaling pathway; and positive regulation of sprouting angiogenesis. Acts upstream of or within response to antibiotic. Located in cytoplasm and nucleus. Part of receptor complex. Is active in cytoplasmic side of plasma membrane. Is extrinsic component of cytoplasmic side of plasma membrane. Implicated in T-cell acute lymphoblastic leukemia; carcinoma (multiple); gastrointestinal system cancer (multiple); and reproductive organ cancer (multiple). Biomarker of pancreatic ductal adenocarcinoma.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: AIIDE; JAK-1; JAK1A; JAK1B; Janus kinase 1 (a protein tyrosine kinase); JTK3; tyrosine-protein kinase JAK1
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
NCBI Annotation Information: Note: This gene has been reviewed for its involvement in coronavirus biology, and is relevant for COVID-19 treatment.
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38164,833,229 - 65,067,746 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl164,833,223 - 65,067,754 (-)EnsemblGRCh38hg38GRCh38
GRCh37165,298,912 - 65,533,429 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36165,071,494 - 65,204,775 (-)NCBINCBI36Build 36hg18NCBI36
Build 34165,012,228 - 65,064,007NCBI
Celera163,589,792 - 63,723,086 (-)NCBICelera
Cytogenetic Map1p31.3NCBI
HuRef163,407,815 - 63,541,120 (-)NCBIHuRef
CHM1_1165,415,253 - 65,548,498 (-)NCBICHM1_1
T2T-CHM13v2.0164,711,228 - 64,945,755 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


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Original Reference(s)
JAK1HumanAcute Experimental Pancreatitis treatmentISORGD:6905619165136 RGD 
JAK1HumanChronic Hepatitis B disease_progressionIAGP 19165132DNA:SNPs: :rs4244165, rs17127024 (human)RGD 
JAK1Humancolorectal cancer disease_progressionIAGP 18936998DNA:frameshift mutationsRGD 
JAK1Humancolorectal cancer severityIAGP 150524355DNA:frameshift mutationsRGD 
JAK1Humanendometrial cancer severityIAGP 150524355DNA:frameshift mutationsRGD 
JAK1HumanExperimental Arthritis treatmentISORGD:6905619165139 RGD 
JAK1Humanhepatocellular carcinoma  IAGP 150524353 RGD 
JAK1HumanHypoxia  ISORGD:69056150527843mRNA, protein:increased expression:lungRGD 
JAK1Humanliver cirrhosis treatmentISORGD:6910319165137associated with Schistosomiasis JaponicaRGD 
JAK1Humanlung non-small cell carcinoma disease_progressionIDA 150524360protein:increased phosphorylation:lungRGD 
JAK1Humanovarian cancer treatmentIMP 19165135 RGD 
JAK1Humanpancreatic adenocarcinoma treatmentIDA 13838743human cell line in a mouse modelRGD 
JAK1Humanpancreatic ductal adenocarcinoma  IEP 13838745mRNA:decreased expression:pancreatic ductal cell (human)RGD 
JAK1Humanperiodontitis treatmentISORGD:6910318936997associated with Diabetes Mellitus, Experimental RGD 
JAK1Humanperiodontitis treatmentISORGD:6910318936995 RGD 
JAK1Humanprostate cancer severityIAGP 150524355DNA:frameshift mutationsRGD 
JAK1Humansciatic neuropathy  ISORGD:69056150527842mRNA:increased expression:spinal cordRGD 
JAK1Humanstomach cancer  IAGP 14975290DNA:SNP: :rs2230587A (human)RGD 
JAK1Humanstomach cancer severityIAGP 150524355DNA:frameshift mutationsRGD 
JAK1HumanT-cell acute lymphoblastic leukemia  IAGP 18936996DNA:missense mutation: :c.1972G>T (p.V658F) (human)RGD 
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JAK1HumanAutoinflammation, Immune Dysregulation, and Eosinophilia  IAGPRGD:110601038554872ClinVar Annotator: match by term: Autoinflammation, immune dysregulation, and eosinophiliaClinVarPMID:25352124|PMID:28111307
JAK1HumanAutoinflammation, Immune Dysregulation, and Eosinophilia  IAGPRGD:8687812|RGD:8687815|RGD:86878208554872ClinVar Annotator: match by term: Autoinflammation, immune dysregulation, and eosinophilia | ClinVar Annotator: match by more ...ClinVarPMID:24728327|PMID:25741868|PMID:28492532
JAK1HumanAutoinflammation, Immune Dysregulation, and Eosinophilia  IAGPRGD:127302504|RGD:127302509|RGD:127302515|RGD:127315309|RGD:127318178|RGD:127318184|RGD:151736329|RGD:151802248|RGD:151808490|RGD:15184995|RGD:151870991|RGD:1520832288554872ClinVar Annotator: match by term: Autoinflammation, immune dysregulation, and eosinophilia | ClinVar Annotator: match by more ...ClinVarPMID:25741868|PMID:28492532
JAK1HumanAutoinflammation, Immune Dysregulation, and Eosinophilia  IAGPRGD:86878138554872ClinVar Annotator: match by term: Autoinflammation, immune dysregulation, and eosinophiliaClinVarPMID:21537335|PMID:24728327|PMID:25741868|PMID:28492532|PMID:33489052|PMID:37287455
JAK1HumanAutoinflammation, Immune Dysregulation, and Eosinophilia  IAGPRGD:243053658|RGD:243053945|RGD:401875238|RGD:405700006|RGD:4074728738554872ClinVar Annotator: match by term: Autoinflammation, immune dysregulation, and eosinophiliaClinVarPMID:25741868
JAK1HumanAutoinflammation, Immune Dysregulation, and Eosinophilia  IAGPRGD:1552659248554872ClinVar Annotator: match by term: Autoinflammation, immune dysregulation, and eosinophiliaClinVarPMID:35046931
JAK1HumanAutoinflammation, Immune Dysregulation, and Eosinophilia  IAGPRGD:1516636008554872ClinVar Annotator: match by term: Autoinflammation, immune dysregulation, and eosinophiliaClinVar 
JAK1HumanAutoinflammation, Immune Dysregulation, and Eosinophilia  IAGPRGD:394570528554872ClinVar Annotator: match by term: Autoinflammation, immune dysregulation, and eosinophiliaClinVarPMID:32750333
JAK1HumanAutoinflammation, Immune Dysregulation, and Eosinophilia  IAGPRGD:126756885|RGD:127296563|RGD:127296959|RGD:15110973|RGD:15172235|RGD:151726931|RGD:152028486|RGD:152081456|RGD:152105714|RGD:156010355|RGD:156157804|RGD:156177366|RGD:1563975248554872ClinVar Annotator: match by term: JAK1-related conditionClinVarPMID:28492532
JAK1Humancongenital disorder of glycosylation It  IAGPRGD:4058740478554872ClinVar Annotator: match by term: PGM1-congenital disorder of glycosylationClinVarPMID:28492532
JAK1Humangenetic disease  IAGPRGD:110601038554872ClinVar Annotator: match by term: Inborn genetic diseasesClinVarPMID:25352124|PMID:28111307
JAK1Humangenetic disease  IAGPRGD:155985683|RGD:156036594|RGD:156095797|RGD:156117450|RGD:401758209|RGD:401758401|RGD:401768011|RGD:401897317|RGD:405795017|RGD:407466710|RGD:407466716|RGD:407466720|RGD:597707139|RGD:597707144|RGD:597707153|RGD:5977071618554872ClinVar Annotator: match by term: Inborn genetic diseasesClinVar 
JAK1Humangenetic disease  IAGPRGD:126758774|RGD:151667697|RGD:151725846|RGD:151745758|RGD:151774543|RGD:151791151|RGD:151831466|RGD:151869239|RGD:155962591|RGD:156162341|RGD:156276664|RGD:156419467|RGD:405160131|RGD:405178803|RGD:405244639|RGD:405795020|RGD:407466715|RGD:5977071518554872ClinVar Annotator: match by term: Inborn genetic diseasesClinVarPMID:28492532
JAK1Humanintellectual disability  IAGPRGD:147028958554872ClinVar Annotator: match by term: Intellectual disability, severeClinVarPMID:25741868
JAK1Humanmyeloid leukemia associated with Down Syndrome  IAGPRGD:1267293198554872ClinVar Annotator: match by term: Acute megakaryoblastic leukemia in down syndromeClinVarPMID:27993330
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JAK1Humanlupus nephritis  EXP 11554173CTD Direct Evidence: marker/mechanismCTDPMID:31182691
JAK1HumanProstatic Neoplasms  EXP 11554173CTD Direct Evidence: marker/mechanismCTDPMID:29610475
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JAK1Humansystemic lupus erythematosus  ISSRGD:6910313592920OMIM:152700 | OMIM:300809 | OMIM:601744 | OMIM:605218 | OMIM:605480 | OMIM:608437 | OMIM:609903 | OMIM:609939 more ...MouseDO 
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JAK1HumanAutoinflammation, Immune Dysregulation, and Eosinophilia  IAGP 7240710 OMIM 

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JAK1Human1,2-dimethylhydrazine decreases expressionISORGD:6910364804641,2-Dimethylhydrazine results in decreased expression of JAK1 mRNACTDPMID:22206623
JAK1Human1-[3-(dimethylamino)propyl]-1-(4-fluorophenyl)-1,3-dihydro-2-benzofuran-5-carbonitrile increases expressionISORGD:690566480464Citalopram results in increased expression of JAK1 mRNACTDPMID:28467792
JAK1Human17alpha-ethynylestradiol affects expressionISORGD:691036480464Ethinyl Estradiol affects the expression of JAK1 mRNACTDPMID:17555576
JAK1Human17alpha-ethynylestradiol decreases expressionISORGD:691036480464Ethinyl Estradiol results in decreased expression of JAK1 mRNACTDPMID:16467188|PMID:17942748
JAK1Human17beta-estradiol increases expressionEXP 6480464Estradiol results in increased expression of JAK1 mRNACTDPMID:31614463
JAK1Human2,2',4,4',5,5'-hexachlorobiphenyl increases phosphorylationEXP 64804642,4,5,2',4',5'-hexachlorobiphenyl results in increased phosphorylation of JAK1 proteinCTDPMID:19632255
JAK1Human2,2',4,4',5,5'-hexachlorobiphenyl multiple interactionsEXP 6480464Filipin inhibits the reaction [2,4,5,2',4',5'-hexachlorobiphenyl results in increased phosphorylation of JAK1 protein]; methyl-beta-cyclodextrin inhibits the more ...CTDPMID:19632255
JAK1Human2,3,7,8-tetrachlorodibenzodioxine increases expressionISORGD:691036480464Tetrachlorodibenzodioxin results in increased expression of JAK1 mRNACTDPMID:18691609|PMID:19933214
JAK1Human2,3,7,8-tetrachlorodibenzodioxine increases expressionISORGD:690566480464Tetrachlorodibenzodioxin results in increased expression of JAK1 mRNACTDPMID:34747641
JAK1Human2,3,7,8-tetrachlorodibenzodioxine affects expressionISORGD:691036480464Tetrachlorodibenzodioxin affects the expression of JAK1 mRNACTDPMID:21570461
JAK1Human2,3,7,8-tetrachlorodibenzodioxine affects expressionISORGD:690566480464Tetrachlorodibenzodioxin affects the expression of JAK1 mRNACTDPMID:22298810
JAK1Human2,3,7,8-tetrachlorodibenzodioxine decreases expressionEXP 6480464Tetrachlorodibenzodioxin results in decreased expression of JAK1 mRNACTDPMID:19574409
JAK1Human2,3,7,8-tetrachlorodibenzodioxine multiple interactionsEXP 6480464Tetrachlorodibenzodioxin promotes the reaction [ESR1 protein binds to JAK1 gene]CTDPMID:19574409
JAK1Human2,6-dinitrotoluene affects expressionISORGD:6905664804642,6-dinitrotoluene affects the expression of JAK1 mRNACTDPMID:21346803
JAK1Human3,4-methylenedioxymethamphetamine increases expressionISORGD:691036480464N-Methyl-3,4-methylenedioxyamphetamine results in increased expression of JAK1 mRNACTDPMID:20188158
JAK1Human3-chloropropane-1,2-diol increases expressionISORGD:690566480464alpha-Chlorohydrin results in increased expression of JAK1 mRNACTDPMID:28522335
JAK1Human3-phenylprop-2-enal multiple interactionsISORGD:690566480464cinnamaldehyde inhibits the reaction [Testosterone results in increased expression of JAK1 protein]CTDPMID:32628957
JAK1Human4,4'-sulfonyldiphenol decreases methylationEXP 6480464bisphenol S results in decreased methylation of JAK1 geneCTDPMID:38338858
JAK1Human4-hydroxyphenyl retinamide increases expressionEXP 6480464Fenretinide results in increased expression of JAK1 proteinCTDPMID:15059897
JAK1Human4-vinylcyclohexene dioxide affects expressionISORGD:6910364804644-vinyl-1-cyclohexene dioxide affects the expression of JAK1 mRNACTDPMID:20829426

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Biological Process
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JAK1Humancell differentiation involved_inIBAFB:FBgn0004864|MGI:96629|MGI:99928|PANTHER:PTN001562978|RGD:2939|ZFIN:ZDB-GENE-070725-4|ZFIN:ZDB-GENE-980526-142|ZFIN:ZDB-GENE-980526-481150520179 GO_CentralGO_REF:0000033
JAK1Humancell surface receptor signaling pathway via JAK-STAT involved_inIMP 150520179 PMID:28111307, PMID:32750333UniProtPMID:28111307|PMID:32750333
JAK1Humancell surface receptor signaling pathway via JAK-STAT involved_inNAS 150520179 PMID:12574355ARUK-UCLPMID:12574355
JAK1Humancell surface receptor signaling pathway via JAK-STAT involved_inIDA 150520179 PMID:7657660, PMID:8232552, PMID:8272873UniProtPMID:7657660|PMID:8232552|PMID:8272873
JAK1Humancell surface receptor signaling pathway via JAK-STAT involved_inIBAFB:FBgn0004864|MGI:96628|MGI:96629|PANTHER:PTN001562978|RGD:2939|UniProtKB:O60674|UniProtKB:P23458|UniProtKB:P29597|ZFIN:ZDB-GENE-980526-481150520179 GO_CentralGO_REF:0000033
JAK1Humancell surface receptor signaling pathway via JAK-STAT involved_inTAS 150520179 PMID:8232552UniProtPMID:8232552
JAK1Humancellular response to interleukin-3 acts_upstream_of_or_withinISORGD:691039068941 PMID:8378315MGIPMID:8378315
JAK1Humancellular response to interleukin-7 acts_upstream_of_or_withinISORGD:691039068941 PMID:29581031MGIPMID:29581031
JAK1Humancellular response to virus involved_inNAS 150520179 PMID:15864272, PMID:30936491ComplexPortalPMID:15864272|PMID:30936491
JAK1Humancytokine-mediated signaling pathway involved_inTAS 150520179 ReactomeReactome:R-HSA-6785807
JAK1Humancytokine-mediated signaling pathway involved_inIBAMGI:96628|MGI:96629|MGI:99928|PANTHER:PTN001562978|RGD:2939|RGD:2940|UniProtKB:K7GSE8|UniProtKB:O60674|UniProtKB:P23458|UniProtKB:P29597|UniProtKB:P52333150520179 GO_CentralGO_REF:0000033
JAK1Humancytokine-mediated signaling pathway acts_upstream_of_or_withinISORGD:691039068941 PMID:8022486MGIPMID:8022486
JAK1Humancytokine-mediated signaling pathway involved_inIEAARBA:ARBA00028236150520179 UniProtGO_REF:0000117
JAK1Humanenzyme-linked receptor protein signaling pathway acts_upstream_of_or_withinISORGD:691039068941 PMID:8022486MGIPMID:8022486
JAK1Humangrowth hormone receptor signaling pathway via JAK-STAT involved_inIBAMGI:96629|PANTHER:PTN002521566|RGD:2939|UniProtKB:O60674150520179 GO_CentralGO_REF:0000033
JAK1Humaninterleukin-10-mediated signaling pathway involved_inIDA 150520179 PMID:7543512UniProtPMID:7543512
JAK1Humaninterleukin-11-mediated signaling pathway involved_inIDA 150520179 PMID:8272872UniProtPMID:8272872
JAK1Humaninterleukin-15-mediated signaling pathway involved_inIDA 150520179 PMID:7568001UniProtPMID:7568001
JAK1Humaninterleukin-2-mediated signaling pathway involved_inTAS 150520179 ReactomeReactome:R-HSA-9020558
JAK1Humaninterleukin-2-mediated signaling pathway involved_inIDA 150520179 PMID:11909529, PMID:7973659UniProtPMID:11909529|PMID:7973659
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Cellular Component
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JAK1Humancytoplasm located_inIDA 150520179 PMID:10502458BHF-UCLPMID:10502458
JAK1Humancytoplasm is_active_inIC 150520179 PMID:7532278UniProtPMID:7532278
JAK1Humancytoplasmic side of plasma membrane is_active_inIDA 150520179 PMID:8272873UniProtPMID:8272873
JAK1Humancytoskeleton located_inIEAInterPro:IPR000299150520179 InterProGO_REF:0000002
JAK1Humancytoskeleton located_inIEAUniRule:UR000329315150520179 UniProtGO_REF:0000104
JAK1Humancytosol located_inTAS 150520179 ReactomeReactome:R-HSA-1112604|Reactome:R-HSA-1112727|Reactome:R-HSA-1169406|Reactome:R-HSA-448660|Reactome:R-HSA-450063|Reactome:R-HSA-452097|Reactome:R-HSA-6785165|Reactome:R-HSA-8950405|Reactome:R-HSA-8983834|Reactome:R-HSA-8984012|Reactome:R-HSA-8985929|Reactome:R-HSA-8986480|Reactome:R-HSA-8987012|Reactome:R-HSA-8987096|Reactome:R-HSA-9025969|Reactome:R-HSA-909552
JAK1Humancytosol is_active_inIBAFB:FBgn0004864|PANTHER:PTN001562978150520179 GO_CentralGO_REF:0000033
JAK1Humancytosol located_inTAS 150520179 ReactomeReactome:R-HSA-1067651|Reactome:R-HSA-1067659|Reactome:R-HSA-1067688|Reactome:R-HSA-1112510|Reactome:R-HSA-1112514|Reactome:R-HSA-1112565|Reactome:R-HSA-1112602|Reactome:R-HSA-1112690|Reactome:R-HSA-1112703|Reactome:R-HSA-1112708|Reactome:R-HSA-1112755|Reactome:R-HSA-1295540|Reactome:R-HSA-1678841|Reactome:R-HSA-448427|Reactome:R-HSA-448480|Reactome:R-HSA-448661|Reactome:R-HSA-448708|Reactome:R-HSA-448728|Reactome:R-HSA-448744|Reactome:R-HSA-449115|Reactome:R-HSA-449803|Reactome:R-HSA-449811|Reactome:R-HSA-449958|Reactome:R-HSA-449976|Reactome:R-HSA-449978|Reactome:R-HSA-450027|Reactome:R-HSA-451900|Reactome:R-HSA-451942|Reactome:R-HSA-452091|Reactome:R-HSA-452100|Reactome:R-HSA-452108|Reactome:R-HSA-452122|Reactome:R-HSA-453104|Reactome:R-HSA-453111|Reactome:R-HSA-508247|Reactome:R-HSA-508282|Reactome:R-HSA-508292|Reactome:R-HSA-5672965|Reactome:R-HSA-5696482|Reactome:R-HSA-6783524|Reactome:R-HSA-6783530|Reactome:R-HSA-6783552|Reactome:R-HSA-6783556|Reactome:R-HSA-6783681|Reactome:R-HSA-6784006|Reactome:R-HSA-6784189|Reactome:R-HSA-6784204|Reactome:R-HSA-6784319|Reactome:R-HSA-6784323|Reactome:R-HSA-6784324|Reactome:R-HSA-6784791|Reactome:R-HSA-6786050|Reactome:R-HSA-6786058|Reactome:R-HSA-6786072|Reactome:R-HSA-6786095|Reactome:R-HSA-6786096|Reactome:R-HSA-6786110|Reactome:R-HSA-6786124|Reactome:R-HSA-6788571|Reactome:R-HSA-6788582|Reactome:R-HSA-6788628|Reactome:R-HSA-6809140|Reactome:R-HSA-873918|Reactome:R-HSA-873919|Reactome:R-HSA-873921|Reactome:R-HSA-873922|Reactome:R-HSA-873924|Reactome:R-HSA-873926|Reactome:R-HSA-873927|Reactome:R-HSA-877269|Reactome:R-HSA-8854645|Reactome:R-HSA-8950210|Reactome:R-HSA-8950340|Reactome:R-HSA-8950441|Reactome:R-HSA-8950448|Reactome:R-HSA-8950453|Reactome:R-HSA-8950485|Reactome:R-HSA-8950518|Reactome:R-HSA-8950537|Reactome:R-HSA-8950757|Reactome:R-HSA-8952807|Reactome:R-HSA-8963734|Reactome:R-HSA-8982162|Reactome:R-HSA-8982163|Reactome:R-HSA-8982165|Reactome:R-HSA-8983003|Reactome:R-HSA-8983063|Reactome:R-HSA-8983298|Reactome:R-HSA-8983300|Reactome:R-HSA-8983335|Reactome:R-HSA-8983371|Reactome:R-HSA-8983374|Reactome:R-HSA-8983378|Reactome:R-HSA-8983384|Reactome:R-HSA-8983518|Reactome:R-HSA-8983835|Reactome:R-HSA-8983841|Reactome:R-HSA-8983845|Reactome:R-HSA-8983983|Reactome:R-HSA-8983996|Reactome:R-HSA-8984001|Reactome:R-HSA-8984014|Reactome:R-HSA-8984021|Reactome:R-HSA-8984023|Reactome:R-HSA-8985900|Reactome:R-HSA-8985914|Reactome:R-HSA-8985973|Reactome:R-HSA-8985988|Reactome:R-HSA-8986446|Reactome:R-HSA-8986972|Reactome:R-HSA-8986985|Reactome:R-HSA-8986994|Reactome:R-HSA-8986995|Reactome:R-HSA-8987014|Reactome:R-HSA-8987015|Reactome:R-HSA-8987033|Reactome:R-HSA-8987039|Reactome:R-HSA-8987040|Reactome:R-HSA-8987042|Reactome:R-HSA-8987043|Reactome:R-HSA-8987063|Reactome:R-HSA-8987070|Reactome:R-HSA-8987080|Reactome:R-HSA-8987084|Reactome:R-HSA-8987097|Reactome:R-HSA-8987104|Reactome:R-HSA-8987105|Reactome:R-HSA-8987120|Reactome:R-HSA-8987129|Reactome:R-HSA-8987132|Reactome:R-HSA-8987141|Reactome:R-HSA-8987150|Reactome:R-HSA-8987156|Reactome:R-HSA-8987161|Reactome:R-HSA-8987179|Reactome:R-HSA-8987202|Reactome:R-HSA-8987220|Reactome:R-HSA-8987230|Reactome:R-HSA-8987236|Reactome:R-HSA-8987255|Reactome:R-HSA-8987266|Reactome:R-HSA-8987270|Reactome:R-HSA-9005980|Reactome:R-HSA-9006844|Reactome:R-HSA-9006850|Reactome:R-HSA-9006870|Reactome:R-HSA-9006873|Reactome:R-HSA-9009227|Reactome:R-HSA-9011748|Reactome:R-HSA-909718|Reactome:R-HSA-909719|Reactome:R-HSA-909720|Reactome:R-HSA-909722|Reactome:R-HSA-909724|Reactome:R-HSA-909726|Reactome:R-HSA-909729|Reactome:R-HSA-909730|Reactome:R-HSA-909732|Reactome:R-HSA-912527|Reactome:R-HSA-913374|Reactome:R-HSA-913424|Reactome:R-HSA-919404|Reactome:R-HSA-9674816|Reactome:R-HSA-9677579|Reactome:R-HSA-9677585|Reactome:R-HSA-9678561|Reactome:R-HSA-9678935|Reactome:R-HSA-9696179|Reactome:R-HSA-9705738|Reactome:R-HSA-9707977|Reactome:R-HSA-9732729|Reactome:R-HSA-9732738|Reactome:R-HSA-9732753|Reactome:R-HSA-997309|Reactome:R-HSA-997311|Reactome:R-HSA-997314
JAK1Humanendomembrane system located_inIEAUniProtKB-SubCell:SL-0147150520179 UniProtGO_REF:0000044
JAK1Humanendosome located_inTAS 150520179 ReactomeReactome:R-HSA-8983335
JAK1Humanextrinsic component of cytoplasmic side of plasma membrane is_active_inIC 150520179 PMID:7543512, PMID:7929391, PMID:7973659, PMID:8272873, PMID:8756628UniProtPMID:7543512|PMID:7929391|PMID:7973659|PMID:8272873|PMID:8756628
JAK1Humanextrinsic component of cytoplasmic side of plasma membrane is_active_inIDA 150520179 PMID:7973659UniProtPMID:7973659
JAK1Humanfocal adhesion located_inHDA 150520179 PMID:21423176UniProtPMID:21423176
JAK1Humanmembrane located_inIEAInterPro:IPR016251|InterPro:IPR020776150520179 InterProGO_REF:0000002
JAK1Humanmembrane located_inIEAUniProtKB-KW:KW-0472150520179 UniProtGO_REF:0000043
JAK1Humannucleus located_inIDA 150520179 PMID:10502458BHF-UCLPMID:10502458
JAK1Humanplasma membrane is_active_inIC 150520179 PMID:10702271UniProtPMID:10702271
JAK1Humanplasma membrane is_active_inTAS 150520179 PMID:34813358UniProtPMID:34813358
JAK1Humanreceptor complex part_ofIPI 150520179 PMID:21854986ComplexPortalPMID:21854986
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Molecular Function
1 to 20 of 39 rows

  
Object Symbol
Species
Term
Qualifier
Evidence
With
Reference
Notes
Source
Original Reference(s)
JAK1HumanATP binding enablesIEAUniProtKB-KW:KW-0067150520179 UniProtGO_REF:0000043
JAK1HumanATP binding enablesIEAUniRule:UR000329315|UniRule:UR001503341150520179 UniProtGO_REF:0000104
JAK1HumanATP binding enablesIEAInterPro:IPR000719|InterPro:IPR016251|InterPro:IPR017441|InterPro:IPR020776150520179 InterProGO_REF:0000002
JAK1HumanCCR5 chemokine receptor binding  ISORGD:6205969068941 RGDPMID:14674010|REF_RGD_ID:1582346
JAK1HumanCCR5 chemokine receptor binding enablesIEAUniProtKB:A6JRN2|UniProtKB:G3V9W2|ensembl:ENSRNOP00000061649150520179 EnsemblGO_REF:0000107
JAK1Humangrowth hormone receptor binding  ISORGD:26879068941 RGDPMID:11244571|REF_RGD_ID:1624962
JAK1Humangrowth hormone receptor binding enablesISSUniProtKB:P52332150520179 PMID:10502458BHF-UCLPMID:10502458
JAK1Humangrowth hormone receptor binding enablesIBAMGI:96628|PANTHER:PTN002521566|RGD:2939|RGD:69056|UniProtKB:P29597150520179 GO_CentralGO_REF:0000033
JAK1Humangrowth hormone receptor binding enablesIEAUniProtKB:A6JRN2|UniProtKB:G3V9W2|ensembl:ENSRNOP00000061649150520179 EnsemblGO_REF:0000107
JAK1Humankinase activity enablesIEAUniProtKB-KW:KW-0418150520179 UniProtGO_REF:0000043
JAK1Humanmetal ion binding enablesIEAUniProtKB-KW:KW-0479150520179 UniProtGO_REF:0000043
JAK1Humannon-membrane spanning protein tyrosine kinase activity enablesIBAFB:FBgn0004864|PANTHER:PTN001562978|UniProtKB:O60674|UniProtKB:P23458|UniProtKB:P29597150520179 GO_CentralGO_REF:0000033
JAK1Humannon-membrane spanning protein tyrosine kinase activity enablesTAS 150520179 PMID:34813358, PMID:8232552ReactomePMID:34813358|PMID:8232552|Reactome:R-HSA-1112602|Reactome:R-HSA-1112703|Reactome:R-HSA-6786095|Reactome:R-HSA-6786096
JAK1Humannon-membrane spanning protein tyrosine kinase activity enablesIDA 150520179 PMID:7657660, PMID:8232552UniProtPMID:7657660|PMID:8232552
JAK1Humannon-membrane spanning protein tyrosine kinase activity enablesIEAARBA:ARBA00027629150520179 UniProtGO_REF:0000117
JAK1Humannon-membrane spanning protein tyrosine kinase activity enablesIEAEC:2.7.10.2150520179 UniProtGO_REF:0000003
JAK1Humannon-membrane spanning protein tyrosine kinase activity enablesIEAUniRule:UR000329315150520179 UniProtGO_REF:0000104
JAK1Humannon-membrane spanning protein tyrosine kinase activity enablesIEAInterPro:IPR016251|InterPro:IPR020776150520179 InterProGO_REF:0000002
JAK1Humannucleotide binding enablesIEAUniRule:UR001503341150520179 UniProtGO_REF:0000104
JAK1Humannucleotide binding enablesIEAUniProtKB-KW:KW-0547150520179 UniProtGO_REF:0000043
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RGD Manual Annotations


  
Object Symbol
Species
Term
Qualifier
Evidence
With
Reference
Notes
Source
Original Reference(s)
JAK1HumanInterleukin-10 signaling pathway   TAS 5688379 RGD 
JAK1Humaninterleukin-6 signaling pathway   TAS 5686839 RGD 
JAK1HumanJak-Stat signaling pathway   TAS 1357935 RGD 
JAK1HumanJak-Stat signaling pathway   TAS 1625126 RGD 
JAK1HumanNon-Stat, Jak dependent pathway  TAS 1357942 RGD 

Imported Annotations - KEGG (archival)

Object Symbol
Species
Term
Qualifier
Evidence
With
Reference
Notes
Source
Original Reference(s)
JAK1Humanceramide signaling pathway  IEA 6907045 KEGGhsa:05212
JAK1Humanhepatitis C pathway  IEA 6907045 KEGGhsa:05160
JAK1HumanJak-Stat signaling pathway   IEA 6907045 KEGGhsa:04630
JAK1HumanLeishmaniasis pathway  IEA 6907045 KEGGhsa:05140
JAK1Humanmeasles pathway  IEA 6907045 KEGGhsa:05162
JAK1Humanpancreatic cancer pathway   IEA 6907045 KEGGhsa:05212
JAK1Humantoxoplasmosis pathway  IEA 6907045 KEGGhsa:05145
JAK1Humantuberculosis pathway  IEA 6907045 KEGGhsa:05152

Imported Annotations - PID (archival)

Object Symbol
Species
Term
Qualifier
Evidence
With
Reference
Notes
Source
Original Reference(s)
JAK1Humaninterleukin-2 signaling pathway  EXP 6484113 PIDPID:200098
JAK1Humaninterleukin-27 signaling pathway  EXP 6484113 PIDPID:200028
JAK1Humaninterleukin-4 signaling pathway  EXP 6484113 PIDPID:200022
JAK1Humaninterleukin-6 signaling pathway   EXP 6484113 PIDPID:200146
JAK1Humanplatelet-derived growth factor signaling pathway  EXP 6484113 PIDPID:200162
JAK1Humantype II interferon signaling pathway  EXP 6484113 PIDPID:200129
Object Symbol
Species
Term
Qualifier
Evidence
With
Reference
Notes
Source
Original Reference(s)
JAK1HumanHepatic necrosis severityIAGP 40902620associated with chronic hepatitis C; DNA:SNPs:5'utr: (rs11576173,rs1497056) (human)RGD 
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Object Symbol
Species
Term
Qualifier
Evidence
With
Reference
Notes
Source
Original Reference(s)
JAK1HumanAsthma  IAGP 8699517 HPOMIM:618999|PMID:32750333
JAK1HumanAtopic dermatitis  IAGP 8699517 HPOMIM:618999|PMID:28111307|PMID:32750333
JAK1HumanAutosomal dominant inheritance  IAGP 8699517 HPOMIM:618999|PMID:28111307
JAK1HumanColonic eosinophilia  IAGP 8699517 HPOMIM:618999|PMID:32750333
JAK1HumanEosinophilia  IAGP 8699517 HPOMIM:618999|PMID:28111307|PMID:32750333
JAK1HumanEosinophilic liver infiltration  IAGP 8699517 HPOMIM:618999|PMID:28111307
JAK1HumanFailure to thrive  IAGP 8699517 HPOMIM:618999|PMID:28111307|PMID:32750333
JAK1HumanFood allergy  IAGP 8699517 HPOMIM:618999|PMID:28111307|PMID:32750333
JAK1HumanHepatic cysts  IAGP 8699517 HPOMIM:618999|PMID:28111307
JAK1HumanHepatosplenomegaly  IAGP 8699517 HPOMIM:618999|PMID:28111307
JAK1HumanHypothyroidism  IAGP 8699517 HPOMIM:618999|PMID:28111307
JAK1HumanMembranous nephropathy  IAGP 8699517 HPOMIM:618999|PMID:32750333
JAK1HumanNephrotic syndrome  IAGP 8699517 HPOMIM:618999|PMID:32750333
JAK1HumanRecurrent viral infections  IAGP 8699517 HPOMIM:618999|PMID:28111307
JAK1HumanShort stature  IAGP 8699517 HPOMIM:618999|PMID:28111307
1 to 15 of 15 rows
Object Symbol
Species
Term
Qualifier
Evidence
With
Reference
Notes
Source
Original Reference(s)
JAK1HumanAcute myeloid leukemia  IAGPRGD:128345198554872ClinVar Annotator: match by term: Acute myelogenous leukemiaClinVar 
JAK1HumanIntellectual disability, severe  IAGPRGD:147028958554872ClinVar Annotator: match by term: Intellectual disability, severeClinVarPMID:25741868

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#
Reference Title
Reference Citation
1. Loss of function JAK1 mutations occur at high frequency in cancers with microsatellite instability and are suggestive of immune evasion. Albacker LA, etal., PLoS One. 2017 Nov 9;12(11):e0176181. doi: 10.1371/journal.pone.0176181. eCollection 2017.
2. JAK1 gene polymorphisms are associated with the outcomes of hepatitis B virus infection, but not with α interferon therapy response in a Han Chinese population. Chen K, etal., Genet Test Mol Biomarkers. 2012 Oct;16(10):1206-10. doi: 10.1089/gtmb.2012.0141. Epub 2012 Aug 17.
3. Combination of gemcitabine and erlotinib inhibits recurrent pancreatic cancer growth in mice via the JAK-STAT pathway. Chen L, etal., Oncol Rep. 2018 Mar;39(3):1081-1089. doi: 10.3892/or.2018.6198. Epub 2018 Jan 8.
4. The antagonist of the JAK-1/STAT-1 signaling pathway improves the severity of cerulein-stimulated pancreatic injury via inhibition of NF-κB activity. Chen P, etal., Int J Mol Med. 2011 May;27(5):731-8. doi: 10.3892/ijmm.2011.632. Epub 2011 Mar 1.
5. Development of selective inhibitors for the treatment of rheumatoid arthritis: (R)-3-(3-(Methyl(7H-pyrrolo[2,3-d]pyrimidin-4-yl)amino)pyrrolidin-1-yl)-3-oxopropanenitrile as a JAK1-selective inhibitor. Chough C, etal., Bioorg Med Chem. 2018 May 1;26(8):1495-1510. doi: 10.1016/j.bmc.2018.01.021. Epub 2018 Feb 3.
6. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
7. Somatic mutations of JAK1 and JAK3 in acute leukemias and solid cancers. Jeong EG, etal., Clin Cancer Res. 2008 Jun 15;14(12):3716-21. doi: 10.1158/1078-0432.CCR-07-4839.
8. Therapeutic strategies for the clinical blockade of IL-6/gp130 signaling. Jones SA, etal., J Clin Invest. 2011 Sep 1;121(9):3375-83. doi: 10.1172/JCI57158. Epub 2011 Sep 1.
9. Activation of the JAK/STAT pathway following transient focal cerebral ischemia: signaling through Jak1 and Stat3 in astrocytes. Justicia C, etal., Glia. 2000 May;30(3):253-70. doi: 10.1002/(sici)1098-1136(200005)30:3<253::aid-glia5>3.0.co;2-o.
10. Whole-genome sequencing identifies recurrent mutations in hepatocellular carcinoma. Kan Z, etal., Genome Res. 2013 Sep;23(9):1422-33. doi: 10.1101/gr.154492.113. Epub 2013 Jun 20.
11. Signaling through the JAK/STAT pathway, recent advances and future challenges. Kisseleva T, etal., Gene 2002 Feb 20;285(1-2):1-24.
12. Mangiferin ameliorates Porphyromonas gingivalis-induced experimental periodontitis by inhibiting phosphorylation of nuclear factor-κB and Janus kinase 1-signal transducer and activator of transcription signaling pathways. Li H, etal., J Periodontal Res. 2017 Feb;52(1):1-7. doi: 10.1111/jre.12360. Epub 2016 Jan 30.
13. Corilagin ameliorates schistosomiasis hepatic fibrosis through regulating IL-13 associated signal pathway in vitro and in vivo. Li HR, etal., Parasitology. 2016 Oct;143(12):1629-38. doi: 10.1017/S0031182016001128. Epub 2016 Jul 21.
14. Activation of Janus kinase 1 confers poor prognosis in patients with non-small cell lung cancer. Liu D, etal., Oncol Lett. 2017 Oct;14(4):3959-3966. doi: 10.3892/ol.2017.6690. Epub 2017 Aug 1.
15. Interferon-related genetic markers of necroinflammatory activity in chronic hepatitis C. López-Rodríguez R, etal., PLoS One. 2017 Jul 12;12(7):e0180927. doi: 10.1371/journal.pone.0180927. eCollection 2017.
16. The JAK-STAT signaling pathway: input and output integration. Murray PJ J Immunol. 2007 Mar 1;178(5):2623-9.
17. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
18. PID Annotation Import Pipeline Pipeline to import Pathway Interaction Database annotations from NCI into RGD
19. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
20. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
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PMID:1213395   PMID:1373877   PMID:1386289   PMID:1581631   PMID:1848670   PMID:7499365   PMID:7510216   PMID:7512720   PMID:7532278   PMID:7543024   PMID:7543512   PMID:7568001  
PMID:7589562   PMID:7615558   PMID:7629131   PMID:7657660   PMID:7690989   PMID:7698020   PMID:7759950   PMID:7896447   PMID:7929391   PMID:7973658   PMID:7973659   PMID:8041779  
PMID:8232552   PMID:8247543   PMID:8272872   PMID:8272873   PMID:8493579   PMID:8536716   PMID:8612580   PMID:8626374   PMID:8647212   PMID:8657151   PMID:8700888   PMID:8702790  
PMID:8756628   PMID:8995399   PMID:9020188   PMID:9047382   PMID:9133424   PMID:9178903   PMID:9388212   PMID:9417082   PMID:9446616   PMID:9452495   PMID:9484840   PMID:9492017  
PMID:9510175   PMID:9516124   PMID:9520455   PMID:9553136   PMID:9566874   PMID:9590172   PMID:9597132   PMID:9632795   PMID:9651359   PMID:9774657   PMID:9774693   PMID:9794795  
PMID:10037796   PMID:10373548   PMID:10433356   PMID:10502458   PMID:10531356   PMID:10586060   PMID:10702271   PMID:10707961   PMID:10777583   PMID:10809230   PMID:10825200   PMID:10856136  
PMID:10875931   PMID:10899310   PMID:10918587   PMID:10954736   PMID:10982844   PMID:10993906   PMID:11016959   PMID:11036942   PMID:11133764   PMID:11160325   PMID:11162588   PMID:11163768  
PMID:11201744   PMID:11294897   PMID:11350938   PMID:11418623   PMID:11468294   PMID:11527382   PMID:11557047   PMID:11694501   PMID:11722592   PMID:11742534   PMID:11751854   PMID:11751884  
PMID:11786531   PMID:11801527   PMID:11839738   PMID:11909529   PMID:11940572   PMID:12089333   PMID:12130510   PMID:12133952   PMID:12163560   PMID:12200137   PMID:12207328   PMID:12223098  
PMID:12242343   PMID:12244095   PMID:12270932   PMID:12374810   PMID:12403768   PMID:12447867   PMID:12456798   PMID:12477932   PMID:12549820   PMID:12551917   PMID:12559972   PMID:12574355  
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JAK1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38164,833,229 - 65,067,746 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl164,833,223 - 65,067,754 (-)EnsemblGRCh38hg38GRCh38
GRCh37165,298,912 - 65,533,429 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36165,071,494 - 65,204,775 (-)NCBINCBI36Build 36hg18NCBI36
Build 34165,012,228 - 65,064,007NCBI
Celera163,589,792 - 63,723,086 (-)NCBICelera
Cytogenetic Map1p31.3NCBI
HuRef163,407,815 - 63,541,120 (-)NCBIHuRef
CHM1_1165,415,253 - 65,548,498 (-)NCBICHM1_1
T2T-CHM13v2.0164,711,228 - 64,945,755 (-)NCBIT2T-CHM13v2.0
Jak1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm394101,009,171 - 101,122,493 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl4101,009,564 - 101,122,479 (-)EnsemblGRCm39 Ensembl
GRCm384101,151,974 - 101,265,282 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl4101,152,367 - 101,265,282 (-)EnsemblGRCm38mm10GRCm38
MGSCv374100,824,579 - 100,937,887 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv364100,650,964 - 100,763,165 (-)NCBIMGSCv36mm8
Celera499,494,673 - 99,536,518 (-)NCBICelera
Cytogenetic Map4C6NCBI
cM Map446.19NCBI
Jak1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr85120,895,606 - 121,004,207 (-)NCBIGRCr8
mRatBN7.25115,780,248 - 115,888,841 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl5115,780,248 - 115,888,926 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx5118,339,384 - 118,439,691 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.05120,064,750 - 120,165,057 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.05120,116,031 - 120,216,334 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.05119,982,503 - 120,091,452 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl5119,982,943 - 120,083,904 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.05123,865,078 - 123,973,772 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.45121,804,586 - 121,905,581 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.15121,813,666 - 121,843,676 (-)NCBI
Celera5114,318,185 - 114,418,922 (-)NCBICelera
Cytogenetic Map5q33NCBI
Jak1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495542325,524,075 - 25,580,604 (+)EnsemblChiLan1.0
ChiLan1.0NW_00495542325,501,989 - 25,581,826 (+)NCBIChiLan1.0ChiLan1.0
JAK1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21161,893,702 - 162,026,305 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11160,944,411 - 161,177,053 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0164,083,562 - 64,315,909 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1165,972,568 - 66,025,070 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl165,973,904 - 66,024,991 (-)Ensemblpanpan1.1panPan2
JAK1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1545,251,653 - 45,408,571 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl545,251,653 - 45,408,571 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha545,310,150 - 45,467,121 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0545,434,808 - 45,591,981 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl545,434,808 - 45,596,544 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1545,401,193 - 45,555,602 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0545,345,182 - 45,501,830 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0545,594,991 - 45,751,867 (+)NCBIUU_Cfam_GSD_1.0
Jak1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440505877,982,726 - 78,038,725 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049366922,299,504 - 2,354,132 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049366922,298,149 - 2,354,084 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
JAK1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl6147,429,056 - 147,567,182 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.16147,320,288 - 147,567,188 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.26135,899,431 - 135,917,892 (-)NCBISscrofa10.2Sscrofa10.2susScr3
JAK1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.12068,122,134 - 68,253,361 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl2068,122,173 - 68,252,042 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366603349,273,104 - 49,510,023 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Jak1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462474229,689,965 - 29,723,981 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462474229,631,391 - 29,723,981 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

.

.
Variants in JAK1
621 total Variants

1 to 10 of 740 rows
Name
Type
Condition(s)
Position(s)
Clinical significance
GRCh38/hg38 1p32.1-31.1(chr1:60473800-70944955)x1 copy number loss See cases [RCV000050703] Chr1:60473800..70944955 [GRCh38]
Chr1:60939472..71410638 [GRCh37]
Chr1:60712060..71183226 [NCBI36]
Chr1:1p32.1-31.1		 pathogenic
GRCh38/hg38 1p32.3-31.1(chr1:52595352-76767765)x3 copy number gain See cases [RCV000051822] Chr1:52595352..76767765 [GRCh38]
Chr1:53061024..77233450 [GRCh37]
Chr1:52833612..77006038 [NCBI36]
Chr1:1p32.3-31.1		 pathogenic
GRCh38/hg38 1p31.3(chr1:61922650-66445757)x3 copy number gain See cases [RCV000051824] Chr1:61922650..66445757 [GRCh38]
Chr1:62388322..66911440 [GRCh37]
Chr1:62160910..66684028 [NCBI36]
Chr1:1p31.3		 pathogenic
GRCh38/hg38 1p32.2-31.1(chr1:57350574-71325924)x1 copy number loss See cases [RCV000053841] Chr1:57350574..71325924 [GRCh38]
Chr1:57816246..71791607 [GRCh37]
Chr1:57588834..71564195 [NCBI36]
Chr1:1p32.2-31.1		 pathogenic
GRCh38/hg38 1p32.1-31.1(chr1:59632500-76730877)x1 copy number loss See cases [RCV000053842] Chr1:59632500..76730877 [GRCh38]
Chr1:60098172..77196562 [GRCh37]
Chr1:59870760..76969150 [NCBI36]
Chr1:1p32.1-31.1		 pathogenic
NM_002227.4(JAK1):c.1516C>T (p.Arg506Cys) single nucleotide variant Autoinflammation, immune dysregulation, and eosinophilia [RCV002498566]|not provided [RCV001854629]|not specified [RCV000121230] Chr1:64855641 [GRCh38]
Chr1:65321324 [GRCh37]
Chr1:1p31.3		 likely benign|uncertain significance|not provided
NM_002227.4(JAK1):c.1951G>A (p.Val651Met) single nucleotide variant Autoinflammation, immune dysregulation, and eosinophilia [RCV002055339]|not provided [RCV001725975]|not specified [RCV000121231] Chr1:64846685 [GRCh38]
Chr1:65312368 [GRCh37]
Chr1:1p31.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance|not provided
NM_002227.4(JAK1):c.2234C>T (p.Thr745Met) single nucleotide variant not provided [RCV005089600]|not specified [RCV000121232] Chr1:64844771 [GRCh38]
Chr1:65310454 [GRCh37]
Chr1:1p31.3		 uncertain significance|not provided
NM_002227.4(JAK1):c.2498A>G (p.Asn833Ser) single nucleotide variant JAK1-related disorder [RCV003925194]|not provided [RCV001348046]|not specified [RCV000121233] Chr1:64841507 [GRCh38]
Chr1:65307190 [GRCh37]
Chr1:1p31.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance|not provided
NM_002227.4(JAK1):c.2469C>T (p.Leu823=) single nucleotide variant not provided [RCV002055340]|not specified [RCV000121234] Chr1:64841536 [GRCh38]
Chr1:65307219 [GRCh37]
Chr1:1p31.3		 likely benign|not provided
1 to 10 of 740 rows

Confirmed Target Of
miRNA GeneMature miRNAMethod NameResult TypeData TypeSupport TypePMID
MIR20Ahsa-miR-20a-3pMirecordsexternal_info{changed}NA20299512
MIR17hsa-miR-17-5pMirtarbaseexternal_infoLuciferase reporter assay//Western blotFunctional MTI20299512
MIR17hsa-miR-17-5pMirecordsexternal_info{changed}NA20299512

Predicted Target Of
Summary Value
Count of predictions:1876
Count of miRNA genes:1003
Interacting mature miRNAs:1202
Transcripts:ENST00000342505, ENST00000465376, ENST00000467764, ENST00000471473, ENST00000481702, ENST00000494904
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.


1 to 10 of 100 rows
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD ID
Symbol
Name
LOD
P Value
Trait
Sub Trait
Chr
Start
Stop
Species
597046423GWAS1142497_HC-reactive protein measurement QTL GWAS1142497 (human)3e-09C-reactive protein measurementblood C-reactive protein level (CMO:0003160)16494057364940574Human
597347224GWAS1443298_Hneuroimaging measurement QTL GWAS1443298 (human)0.0000002neuroimaging measurement16483710564837106Human
597332639GWAS1428713_Hneuroimaging measurement QTL GWAS1428713 (human)0.000007neuroimaging measurement16486341764863418Human
597052049GWAS1148123_Hmultiple sclerosis QTL GWAS1148123 (human)1e-15multiple sclerosis16496363664963637Human
597048221GWAS1144295_Hautoimmune disease QTL GWAS1144295 (human)0.0000001autoimmune disease16489526664895267Human
597279634GWAS1375708_Hhypothyroidism QTL GWAS1375708 (human)2e-08hypothyroidism16496363664963637Human
597050246GWAS1146320_HEczematoid dermatitis QTL GWAS1146320 (human)3e-10Eczematoid dermatitis16484852964848530Human
597252488GWAS1348562_HC-reactive protein measurement QTL GWAS1348562 (human)1e-15C-reactive protein measurementblood C-reactive protein level (CMO:0003160)16490573564905736Human
597417864GWAS1513938_Hlymphocyte count QTL GWAS1513938 (human)1e-08lymphocyte countblood lymphocyte count (CMO:0000031)16497985964979860Human
597194112GWAS1290186_HCOVID-19 QTL GWAS1290186 (human)3e-09COVID-1916494827064948271Human

1 to 10 of 100 rows
D1S2825  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37165,326,418 - 65,326,703UniSTSGRCh37
GRCh37165,326,418 - 65,326,583UniSTSGRCh37
Build 36165,099,006 - 65,099,171RGDNCBI36
Celera163,617,305 - 63,617,590UniSTS
Celera163,617,305 - 63,617,470RGD
HuRef163,435,315 - 63,435,496UniSTS
HuRef163,435,315 - 63,435,616UniSTS
Marshfield Genetic Map198.21RGD
Marshfield Genetic Map198.21UniSTS
Genethon Genetic Map1100.9UniSTS
TNG Radiation Hybrid Map136901.0UniSTS
Whitehead-YAC Contig Map1 UniSTS
SHGC-74955  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37165,298,636 - 65,298,764UniSTSGRCh37
Build 36165,071,224 - 65,071,352RGDNCBI36
Celera163,589,522 - 63,589,650RGD
Cytogenetic Map1p32.3-p31.3UniSTS
Cytogenetic Map1p31.3UniSTS
HuRef163,407,545 - 63,407,673UniSTS
TNG Radiation Hybrid Map136888.0UniSTS
GeneMap99-GB4 RH Map1174.74UniSTS
AL033825  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37165,359,425 - 65,359,532UniSTSGRCh37
Build 36165,132,013 - 65,132,120RGDNCBI36
Celera163,650,308 - 63,650,415RGD
Cytogenetic Map1p32.3-p31.3UniSTS
HuRef163,468,305 - 63,468,412UniSTS
AL034288  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37165,414,287 - 65,414,420UniSTSGRCh37
Build 36165,186,875 - 65,187,008RGDNCBI36
Celera163,705,185 - 63,705,318RGD
Cytogenetic Map1p32.3-p31.3UniSTS
HuRef163,523,220 - 63,523,353UniSTS
RH123697  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37165,344,499 - 65,344,782UniSTSGRCh37
Build 36165,117,087 - 65,117,370RGDNCBI36
Celera163,635,382 - 63,635,665RGD
Cytogenetic Map1p32.3-p31.3UniSTS
HuRef163,453,379 - 63,453,662UniSTS
TNG Radiation Hybrid Map136905.0UniSTS
SHGC-74942  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37165,299,025 - 65,299,150UniSTSGRCh37
Build 36165,071,613 - 65,071,738RGDNCBI36
Celera163,589,911 - 63,590,036RGD
Cytogenetic Map1p32.3-p31.3UniSTS
Cytogenetic Map1p31.3UniSTS
HuRef163,407,934 - 63,408,059UniSTS
TNG Radiation Hybrid Map136882.0UniSTS
GeneMap99-GB4 RH Map1174.11UniSTS
SHGC-74938  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37165,300,129 - 65,300,278UniSTSGRCh37
Build 36165,072,717 - 65,072,866RGDNCBI36
Celera163,591,015 - 63,591,164RGD
Cytogenetic Map1p32.3-p31.3UniSTS
HuRef163,409,042 - 63,409,191UniSTS
TNG Radiation Hybrid Map136891.0UniSTS
GeneMap99-GB4 RH Map1173.9UniSTS
G22293  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37165,299,585 - 65,299,709UniSTSGRCh37
Build 36165,072,173 - 65,072,297RGDNCBI36
Celera163,590,471 - 63,590,595RGD
Cytogenetic Map1p32.3-p31.3UniSTS
HuRef163,408,498 - 63,408,622UniSTS




adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
pharyngeal arch
renal system
reproductive system
respiratory system
sensory system
visual system
1204 2438 2788 2252 4972 1726 2351 6 624 1949 465 2269 7304 6471 53 3733 1 852 1743 1617 175 1


1 to 30 of 40 rows
RefSeq Transcripts NG_023402 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001320923 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001321852 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001321853 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001321854 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001321855 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001321856 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001321857 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_002227 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047419674 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047419675 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047419676 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047419677 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054336426 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054336427 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054336428 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB209057 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB219242 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC093427 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK128375 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK314257 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL357078 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL590436 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL606517 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC009079 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC023604 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC062431 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC111401 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC132729 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX647675 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
1 to 30 of 40 rows

Ensembl Acc Id: ENST00000342505   ⟹   ENSP00000343204
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl164,833,229 - 64,966,549 (-)Ensembl
Ensembl Acc Id: ENST00000465376
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl164,833,223 - 64,848,164 (-)Ensembl
Ensembl Acc Id: ENST00000471473
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl164,844,096 - 64,846,909 (-)Ensembl
Ensembl Acc Id: ENST00000481702
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl164,839,496 - 64,841,258 (-)Ensembl
Ensembl Acc Id: ENST00000494904
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl164,859,642 - 64,864,856 (-)Ensembl
Ensembl Acc Id: ENST00000671746   ⟹   ENSP00000500065
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl164,833,234 - 64,966,549 (-)Ensembl
Ensembl Acc Id: ENST00000671929   ⟹   ENSP00000500485
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl164,833,234 - 64,966,284 (-)Ensembl
Ensembl Acc Id: ENST00000671954   ⟹   ENSP00000500841
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl164,833,234 - 65,067,731 (-)Ensembl
Ensembl Acc Id: ENST00000672099   ⟹   ENSP00000500328
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl164,873,458 - 65,067,729 (-)Ensembl
Ensembl Acc Id: ENST00000672179   ⟹   ENSP00000500296
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl164,833,234 - 64,966,919 (-)Ensembl
Ensembl Acc Id: ENST00000672247   ⟹   ENSP00000499884
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl164,833,234 - 64,966,547 (-)Ensembl
Ensembl Acc Id: ENST00000672434   ⟹   ENSP00000499900
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl164,833,234 - 65,067,732 (-)Ensembl
Ensembl Acc Id: ENST00000672574   ⟹   ENSP00000500714
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl164,833,235 - 64,966,569 (-)Ensembl
Ensembl Acc Id: ENST00000672751   ⟹   ENSP00000500745
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl164,833,234 - 65,067,754 (-)Ensembl
Ensembl Acc Id: ENST00000672903
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl164,867,100 - 64,869,408 (-)Ensembl
Ensembl Acc Id: ENST00000673046   ⟹   ENSP00000500878
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl164,833,243 - 64,966,370 (-)Ensembl
Ensembl Acc Id: ENST00000673220   ⟹   ENSP00000500422
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl164,833,343 - 64,966,552 (-)Ensembl
Ensembl Acc Id: ENST00000673246   ⟹   ENSP00000499942
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl164,833,234 - 64,966,551 (-)Ensembl
Ensembl Acc Id: ENST00000673254   ⟹   ENSP00000500476
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl164,833,262 - 64,966,552 (-)Ensembl
Ensembl Acc Id: ENST00000673314
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl164,833,235 - 64,966,564 (-)Ensembl
Ensembl Acc Id: ENST00000673502   ⟹   ENSP00000500011
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl164,833,235 - 65,067,746 (-)Ensembl
Ensembl Acc Id: ENST00000699259   ⟹   ENSP00000514240
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl164,833,234 - 64,966,552 (-)Ensembl
Ensembl Acc Id: ENST00000699260   ⟹   ENSP00000514241
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl164,833,234 - 64,966,569 (-)Ensembl
Ensembl Acc Id: ENST00000699261   ⟹   ENSP00000514242
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl164,833,235 - 64,966,564 (-)Ensembl
Ensembl Acc Id: ENST00000699262   ⟹   ENSP00000514243
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl164,834,075 - 64,966,936 (-)Ensembl
Ensembl Acc Id: ENST00000699263   ⟹   ENSP00000514244
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl164,869,409 - 65,067,614 (-)Ensembl
Ensembl Acc Id: ENST00000699310   ⟹   ENSP00000514289
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl164,833,234 - 64,966,551 (-)Ensembl
Ensembl Acc Id: ENST00000699311   ⟹   ENSP00000514290
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl164,833,234 - 64,966,564 (-)Ensembl
Ensembl Acc Id: ENST00000699312   ⟹   ENSP00000514291
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl164,833,234 - 65,067,732 (-)Ensembl
Ensembl Acc Id: ENST00000699313   ⟹   ENSP00000514292
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl164,833,235 - 64,966,564 (-)Ensembl
Ensembl Acc Id: ENST00000699314   ⟹   ENSP00000514294
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl164,873,428 - 65,067,732 (-)Ensembl
RefSeq Acc Id: NM_001320923   ⟹   NP_001307852
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38164,833,229 - 64,966,936 (-)NCBI
CHM1_1165,415,253 - 65,548,930 (-)NCBI
T2T-CHM13v2.0164,711,228 - 64,844,932 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001321852   ⟹   NP_001308781
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38164,833,229 - 65,067,746 (-)NCBI
CHM1_1165,415,253 - 65,649,730 (-)NCBI
T2T-CHM13v2.0164,711,228 - 64,945,755 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001321853   ⟹   NP_001308782
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38164,833,229 - 65,067,746 (-)NCBI
CHM1_1165,415,253 - 65,649,730 (-)NCBI
T2T-CHM13v2.0164,711,228 - 64,945,755 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001321854   ⟹   NP_001308783
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38164,833,229 - 65,067,746 (-)NCBI
CHM1_1165,415,253 - 65,649,730 (-)NCBI
T2T-CHM13v2.0164,711,228 - 64,945,755 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001321855   ⟹   NP_001308784
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38164,833,229 - 64,966,549 (-)NCBI
CHM1_1165,415,253 - 65,548,563 (-)NCBI
T2T-CHM13v2.0164,711,228 - 64,844,545 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001321856   ⟹   NP_001308785
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38164,833,229 - 64,966,936 (-)NCBI
CHM1_1165,415,253 - 65,548,930 (-)NCBI
T2T-CHM13v2.0164,711,228 - 64,844,932 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001321857   ⟹   NP_001308786
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38164,833,229 - 64,966,549 (-)NCBI
CHM1_1165,415,253 - 65,548,563 (-)NCBI
T2T-CHM13v2.0164,711,228 - 64,844,545 (-)NCBI
Sequence:
RefSeq Acc Id: NM_002227   ⟹   NP_002218
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38164,833,229 - 64,966,549 (-)NCBI
GRCh37165,298,906 - 65,432,593 (-)NCBI
Build 36165,071,494 - 65,204,775 (-)NCBI Archive
HuRef163,407,815 - 63,541,120 (-)ENTREZGENE
CHM1_1165,415,253 - 65,548,563 (-)NCBI
T2T-CHM13v2.0164,711,228 - 64,844,545 (-)NCBI
Sequence:
RefSeq Acc Id: XM_047419674   ⟹   XP_047275630
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38164,833,229 - 64,889,490 (-)NCBI
RefSeq Acc Id: XM_047419675   ⟹   XP_047275631
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38164,833,229 - 64,956,984 (-)NCBI
RefSeq Acc Id: XM_047419676   ⟹   XP_047275632
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38164,833,229 - 65,067,746 (-)NCBI
RefSeq Acc Id: XM_047419677   ⟹   XP_047275633
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38164,833,229 - 64,957,017 (-)NCBI
RefSeq Acc Id: XM_054336426   ⟹   XP_054192401
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0164,711,228 - 64,767,468 (-)NCBI
RefSeq Acc Id: XM_054336427   ⟹   XP_054192402
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0164,711,228 - 64,945,755 (-)NCBI
RefSeq Acc Id: XM_054336428   ⟹   XP_054192403
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0164,711,228 - 64,835,012 (-)NCBI
1 to 30 of 44 rows
Protein RefSeqs NP_001307852 (Get FASTA)   NCBI Sequence Viewer  
  NP_001308781 (Get FASTA)   NCBI Sequence Viewer  
  NP_001308782 (Get FASTA)   NCBI Sequence Viewer  
  NP_001308783 (Get FASTA)   NCBI Sequence Viewer  
  NP_001308784 (Get FASTA)   NCBI Sequence Viewer  
  NP_001308785 (Get FASTA)   NCBI Sequence Viewer  
  NP_001308786 (Get FASTA)   NCBI Sequence Viewer  
  NP_002218 (Get FASTA)   NCBI Sequence Viewer  
  XP_047275630 (Get FASTA)   NCBI Sequence Viewer  
  XP_047275631 (Get FASTA)   NCBI Sequence Viewer  
  XP_047275632 (Get FASTA)   NCBI Sequence Viewer  
  XP_047275633 (Get FASTA)   NCBI Sequence Viewer  
  XP_054192401 (Get FASTA)   NCBI Sequence Viewer  
  XP_054192402 (Get FASTA)   NCBI Sequence Viewer  
  XP_054192403 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAA36527 (Get FASTA)   NCBI Sequence Viewer  
  AAH23604 (Get FASTA)   NCBI Sequence Viewer  
  AAH62431 (Get FASTA)   NCBI Sequence Viewer  
  AAI11402 (Get FASTA)   NCBI Sequence Viewer  
  AAI32730 (Get FASTA)   NCBI Sequence Viewer  
  AER93381 (Get FASTA)   NCBI Sequence Viewer  
  BAD92294 (Get FASTA)   NCBI Sequence Viewer  
  BAE02826 (Get FASTA)   NCBI Sequence Viewer  
  CBG22571 (Get FASTA)   NCBI Sequence Viewer  
  EAX06547 (Get FASTA)   NCBI Sequence Viewer  
  EAX06548 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000343204
  ENSP00000343204.4
  ENSP00000499884
  ENSP00000499884.1
1 to 30 of 44 rows
1 to 5 of 40 rows
1 to 5 of 40 rows
RefSeq Acc Id: NP_002218   ⟸   NM_002227
- Peptide Label: isoform 1
- UniProtKB: Q59GQ2 (UniProtKB/Swiss-Prot),   Q9UD26 (UniProtKB/Swiss-Prot),   P23458 (UniProtKB/Swiss-Prot),   A0A0A0N0M2 (UniProtKB/TrEMBL),   A0A5F9ZI39 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001308781   ⟸   NM_001321852
- Peptide Label: isoform 1
- UniProtKB: Q59GQ2 (UniProtKB/Swiss-Prot),   Q9UD26 (UniProtKB/Swiss-Prot),   P23458 (UniProtKB/Swiss-Prot),   A0A0A0N0M2 (UniProtKB/TrEMBL),   A0A5F9ZI39 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001308783   ⟸   NM_001321854
- Peptide Label: isoform 1
- UniProtKB: Q59GQ2 (UniProtKB/Swiss-Prot),   Q9UD26 (UniProtKB/Swiss-Prot),   P23458 (UniProtKB/Swiss-Prot),   A0A0A0N0M2 (UniProtKB/TrEMBL),   A0A5F9ZI39 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001308782   ⟸   NM_001321853
- Peptide Label: isoform 1
- UniProtKB: Q59GQ2 (UniProtKB/Swiss-Prot),   Q9UD26 (UniProtKB/Swiss-Prot),   P23458 (UniProtKB/Swiss-Prot),   A0A0A0N0M2 (UniProtKB/TrEMBL),   A0A5F9ZI39 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001308785   ⟸   NM_001321856
- Peptide Label: isoform 1
- UniProtKB: Q59GQ2 (UniProtKB/Swiss-Prot),   Q9UD26 (UniProtKB/Swiss-Prot),   P23458 (UniProtKB/Swiss-Prot),   A0A0A0N0M2 (UniProtKB/TrEMBL),   A0A5F9ZI39 (UniProtKB/TrEMBL)
- Sequence:
FERM   Protein kinase   SH2

Name Modeler Protein Id AA Range Protein Structure
AF-P23458-F1-model_v2 AlphaFold P23458 1-1154 view protein structure

RGD ID:6785814
Promoter ID:HG_KWN:3091
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:Lymphoblastoid
Transcripts:OTTHUMT00000025788
Position:
Human AssemblyChrPosition (strand)Source
Build 36165,102,391 - 65,102,891 (-)MPROMDB
RGD ID:6785812
Promoter ID:HG_KWN:3094
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:NM_002227,   UC009WAM.1
Position:
Human AssemblyChrPosition (strand)Source
Build 36165,204,444 - 65,204,944 (-)MPROMDB


1 to 40 of 93 rows
Database
Acc Id
Source(s)
COSMIC JAK1 COSMIC
Ensembl Genes ENSG00000162434 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000342505 ENTREZGENE
  ENST00000342505.5 UniProtKB/Swiss-Prot
  ENST00000671929.2 UniProtKB/Swiss-Prot
  ENST00000671954.2 UniProtKB/Swiss-Prot
  ENST00000672179 ENTREZGENE
  ENST00000672179.2 UniProtKB/Swiss-Prot
  ENST00000672247 ENTREZGENE
  ENST00000672247.2 UniProtKB/Swiss-Prot
  ENST00000672434 ENTREZGENE
  ENST00000672434.2 UniProtKB/Swiss-Prot
  ENST00000672751 ENTREZGENE
  ENST00000672751.2 UniProtKB/Swiss-Prot
  ENST00000699260 ENTREZGENE
  ENST00000699262 ENTREZGENE
  ENST00000699262.1 UniProtKB/Swiss-Prot
  ENST00000699312 ENTREZGENE
  ENST00000699312.1 UniProtKB/Swiss-Prot
Gene3D-CATH 3.30.505.10 UniProtKB/Swiss-Prot
  Phosphorylase Kinase, domain 1 UniProtKB/Swiss-Prot
  Transferase(Phosphotransferase) domain 1 UniProtKB/Swiss-Prot
GTEx ENSG00000162434 GTEx
HGNC ID HGNC:6190 ENTREZGENE
Human Proteome Map JAK1 Human Proteome Map
InterPro Band_41_domain UniProtKB/Swiss-Prot
  FERM_2 UniProtKB/Swiss-Prot
  FERM_central UniProtKB/Swiss-Prot
  FERM_domain UniProtKB/Swiss-Prot
  FERM_F1 UniProtKB/Swiss-Prot
  FERM_F2 UniProtKB/Swiss-Prot
  JAK UniProtKB/Swiss-Prot
  Jak1_PHL_dom UniProtKB/Swiss-Prot
  Kinase-like_dom_sf UniProtKB/Swiss-Prot
  Prot_kinase_dom UniProtKB/Swiss-Prot
  Protein_kinase_ATP_BS UniProtKB/Swiss-Prot
  Ser-Thr/Tyr_kinase_cat_dom UniProtKB/Swiss-Prot
  SH2 UniProtKB/Swiss-Prot
  SH2_dom_sf UniProtKB/Swiss-Prot
  Tyr_kinase_AS UniProtKB/Swiss-Prot
1 to 40 of 93 rows