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Gene Gene information from NCBI Gene database.
Entrez ID 3716
Gene name Janus kinase 1
Gene symbol JAK1
Synonyms (NCBI Gene)
AIIDEJAK1AJAK1BJTK3
Chromosome 1
Chromosome location 1p31.3
Summary 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
SNPs SNP information provided by dbSNP.
3
SNP ID Visualize variation Clinical significance Consequence
rs151047872 G>A Likely-pathogenic Missense variant, coding sequence variant
rs869312953 G>T Likely-pathogenic Missense variant, coding sequence variant
rs1057519753 C>A Likely-pathogenic Missense variant, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
608 Show/Hide all (608)
miRTarBase ID miRNA Experiments Reference
MIRT000482 hsa-miR-17-5p Luciferase reporter assayWestern blot 20299512
MIRT020460 hsa-miR-106b-5p Microarray 17242205
MIRT021877 hsa-miR-128-3p Microarray 17612493
MIRT046471 hsa-miR-15b-5p CLASH 23622248
MIRT046312 hsa-miR-23b-3p CLASH 23622248
Transcription factors Transcription factors information provided by TRRUST V2 database.
1
Transcription factor Regulation Reference
BRCA1 Unknown 11163768
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
96 Show/Hide all (96)
GO ID Ontology Definition Evidence Reference
GO:0000166 Function Nucleotide binding IEA
GO:0004672 Function Protein kinase activity IEA
GO:0004713 Function Protein tyrosine kinase activity EXP 1386289, 9446616, 10825200, 31892268
GO:0004713 Function Protein tyrosine kinase activity IC 7543512
GO:0004713 Function Protein tyrosine kinase activity IDA 7532278, 7929391, 7973659, 8272873, 8756628, 10702271, 15226449
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
147795 6190 ENSG00000162434
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P23458
Protein name Tyrosine-protein kinase JAK1 (EC 2.7.10.2) (Janus kinase 1) (JAK-1)
Protein function Tyrosine kinase of the non-receptor type, involved in the IFN-alpha/beta/gamma signal pathway (PubMed:16239216, PubMed:28111307, PubMed:32750333, PubMed:7615558, PubMed:8232552). Kinase partner for the interleukin (IL)-2 receptor (PubMed:1190952
PDB 3EYG , 3EYH , 4E4L , 4E4N , 4E5W , 4EHZ , 4EI4 , 4FK6 , 4GS0 , 4I5C , 4IVB , 4IVC , 4IVD , 4K6Z , 4K77 , 4L00 , 4L01 , 5E1E , 5HX8 , 5IXD , 5IXI , 5KHW , 5KHX , 5L04 , 5WO4 , 6AAH , 6BBU , 6C7Y , 6DBN , 6ELR , 6GGH , 6HZU , 6N77 , 6N78 , 6N79 , 6N7A , 6N7B , 6N7C , 6N7D , 6RSB , 6RSC , 6RSD , 6RSE , 6RSH , 6SM8 , 6SMB , 6TPE , 6TPF , 6W8L , 8EXJ , 8S85
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF17887 Jak1_Phl 284 → 421 Jak1 pleckstrin homology-like domain Domain
PF18377 FERM_F2 147 → 277 FERM F2 acyl-CoA binding protein-like domain Domain
PF18379 FERM_F1 36 → 129 FERM F1 ubiquitin-like domain Domain
PF07714 PK_Tyr_Ser-Thr 875 → 1149 Protein tyrosine and serine/threonine kinase Domain
PF07714 PK_Tyr_Ser-Thr 583 → 845 Protein tyrosine and serine/threonine kinase Domain
Tissue specificity 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. {ECO:0000269|PubMed:7896447}.
Sequence
Sequence length 1154
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
KEGG Pathway Reactome Pathway
EGFR tyrosine kinase inhibitor resistance Interleukin-6 signaling
PI3K-Akt signaling pathway MAPK3 (ERK1) activation
Necroptosis MAPK1 (ERK2) activation
Osteoclast differentiation ISG15 antiviral mechanism
Signaling pathways regulating pluripotency of stem cells Interleukin-7 signaling
Toll-like receptor signaling pathway Other interleukin signaling
NOD-like receptor signaling pathway RAF/MAP kinase cascade
JAK-STAT signaling pathway Interleukin-10 signaling
Th1 and Th2 cell differentiation Interleukin-4 and Interleukin-13 signaling
Th17 cell differentiation IL-6-type cytokine receptor ligand interactions
Leishmaniasis Interferon gamma signaling
Toxoplasmosis Regulation of IFNG signaling
Tuberculosis Interleukin-20 family signaling
Hepatitis C Interleukin-15 signaling
Hepatitis B Interleukin-35 Signalling
Measles Interleukin-9 signaling
Human cytomegalovirus infection Interleukin-2 signaling
Influenza A Interleukin-12 signaling
Human papillomavirus infection Interleukin-27 signaling
Human T-cell leukemia virus 1 infection Interleukin-21 signaling
Kaposi sarcoma-associated herpesvirus infection Interferon alpha/beta signaling
Herpes simplex virus 1 infection Interleukin receptor SHC signaling
Epstein-Barr virus infection Regulation of IFNA signaling
Coronavirus disease - COVID-19  
Pathways in cancer  
Viral carcinogenesis  
Pancreatic cancer  
PD-L1 expression and PD-1 checkpoint pathway in cancer  
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
27
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Acute megakaryoblastic leukemia in down syndrome Likely pathogenic rs1655079234 RCV001293764
★★★★★
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Autoinflammation, immune dysregulation, and eosinophilia Pathogenic; Likely pathogenic rs2524099521, rs869312953, rs1655173102 RCV002280062
RCV001255134
RCV001255135
★★★★★
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Show/Hide Unknown Diseases (25)
Phenotype Name Clinical Significance Source Reference Evidence Score
Acute myeloid leukemia Uncertain significance ClinVar —
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Adrenocortical carcinoma, hereditary Benign ClinVar —
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
AUTOIMMUNE DISEASE — GWAS catalog 30595370
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
AUTOIMMUNE THYROID DISEASE — GWAS catalog 32581359
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial jak1 deficiency Uncertain significance ClinVar —
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Show/Hide Text Mining Associations (262)
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Acute Erythroblastic Leukemia Erythroblastic Leukemia BEFREE 27086927
★★★★★
★☆☆☆☆
Found in Text Mining only
Acute leukemia Leukemia BEFREE 18559588, 20868368
★★★★★
★☆☆☆☆
Found in Text Mining only
Acute lymphoblastic leukemia with lymphomatous features Lymphoblastic Leukemia With Lymphomatous Features CLINVAR_DG 19139102, 19470474, 19838194, 20167706, 21680795, 22955920
★★★★★
★☆☆☆☆
Found in Text Mining only
Acute lymphocytic leukemia Lymphocytic Leukemia BEFREE 18362173, 19139102, 20167706, 20697856, 21436584, 23340138, 25942645, 26443624, 28245838, 28410228
★★★★★
★☆☆☆☆
Found in Text Mining only
Acute monocytic leukemia Monocytic Leukemia BEFREE 28619982
★★★★★
★☆☆☆☆
Found in Text Mining only
Acute Promyelocytic Leukemia Promyelocytic Leukemia BEFREE 21436577, 21436584
★★★★★
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma Adenocarcinoma BEFREE 28989534, 29121062
★★★★★
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of lung (disorder) Lung adenocarcinoma BEFREE 26840709, 28879441, 31407334
★★★★★
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of pancreas Pancreatic adenocarcinoma BEFREE 30115734
★★★★★
★☆☆☆☆
Found in Text Mining only
Adrenal Gland Pheochromocytoma Adrenal Gland Pheochromocytoma BEFREE 25762644
★★★★★
★☆☆☆☆
Found in Text Mining only