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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]
JAK1 (Janus Kinase 1) is a Protein Coding gene. Diseases associated with JAK1 include Breast Implant-Associated Anaplastic Large Cell Lymphoma and Polycythemia Vera. Among its related pathways are Common Cytokine Receptor Gamma-Chain Family Signaling Pathways and RET signaling. Gene Ontology (GO) annotations related to this gene include transferase activity, transferring phosphorus-containing groups and protein tyrosine kinase activity. An important paralog of this gene is TYK2.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000166 | nucleotide binding | IEA | -- |
GO:0004672 | protein kinase activity | IEA | -- |
GO:0004713 | protein tyrosine kinase activity | IEA,TAS | -- |
GO:0004715 | non-membrane spanning protein tyrosine kinase activity | IEA,TAS | -- |
GO:0005131 | growth hormone receptor binding | IPI,ISS | 10502458 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005634 | nucleus | IDA | 10502458 |
GO:0005737 | cytoplasm | IDA | 10502458 |
GO:0005768 | endosome | TAS | -- |
GO:0005829 | cytosol | TAS | -- |
GO:0005856 | cytoskeleton | IEA | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | RET signaling |
.92
|
.92
|
2 | Common Cytokine Receptor Gamma-Chain Family Signaling Pathways |
Immune response IL-9 signaling pathway
.42
IL-9 Pathway
.36
|
|
3 | Th17 cell differentiation |
Immune response IL-22 signaling pathway
.36
IL-22 Pathway
.01
|
|
4 | ErbB signaling pathway | ||
5 | Measles |
.35
|
.33
|
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000165 | MAPK cascade | TAS | -- |
GO:0006468 | protein phosphorylation | IEA,TAS | 1848670 |
GO:0016310 | phosphorylation | IEA | -- |
GO:0018108 | peptidyl-tyrosine phosphorylation | IEA | -- |
GO:0019221 | cytokine-mediated signaling pathway | TAS | -- |
Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
---|---|---|---|---|---|---|
Baricitinib | Approved, Investigational | Pharma | Target, inhibitor | 0 | ||
Fedratinib | Approved, Investigational | Pharma | Target, inhibitor | 0 | ||
ruxolitinib | Approved | Pharma | Target, inhibitor | Kinase Inhibitors | 0 | |
fostamatinib | Approved, Investigational | Pharma | Target, inhibitor | Kinase Inhibitors | 0 | |
Tofacitinib | Approved, Investigational | Pharma | Target, inhibitor | 168 |
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
---|---|---|---|---|---|---|
ADP |
|
Agonist, Full agonist, Partial agonist, Gating inhibitor, Antagonist | 58-64-0 |
|
Compound | Action | Cas Number |
---|---|---|
AZ 960 | JAKs inhibitor | 905586-69-8 |
Bardoxolone methyl | IKK inhibitor, potent antioxidant inflammation modulator | 218600-53-4 |
Baricitinib (LY3009104, INCB028050) | JAK1/JAK2 inhibitor,selective orally bioavailable | 1187594-09-7 |
Baricitinib phosphate | JAK1/JAK2 inhibitor | 1187595-84-1 |
Cerdulatinib | Syk/JAK inhibitor | 1198300-79-6 |
CYT387 | JAK-1/-2 inhibitor,ATP competitive | 1056634-68-4 |
CYT387 sulfate salt | JAK1/JAK2 inhibitor | 1056636-06-6 |
GLPG0634 | JAK1 inhibitor | 1206161-97-8 |
NVP-BSK805 | ATP-competitive JAK2 inhibitor | 1092499-93-8 |
Peficitinb (ASP015K, JNJ-54781532) | JAK inhibitor | 944118-01-8 |
Pyridone 6 | Pan-JAK inhibitor | 457081-03-7 |
Ruxolitinib (INCB018424) | JAK inhibitor | 941678-49-5 |
Ruxolitinib phosphate | JAK1/JAK2 inhibitor | 1092939-17-7 |
S-Ruxolitinib (INCB018424) | JAK1/2 inhibitor,potent and selective | 941685-37-6 |
Tofacitinib (CP-690550) Citrate | Potent JAK inhibitor | 540737-29-9 |
Tofacitinib (CP-690550,Tasocitinib) | Janus kinase inhibitor | 477600-75-2 |
WHI-P154 | JAK3 inhibitor | 211555-04-3 |
ZM 39923 HCl | JAK3 inhibitor,potent and selective | 1021868-92-7 |
ExUns: | 1 | ^ | 2a | · | 2b | ^ | 3 | ^ | 4 | ^ | 5 | ^ | 6 | ^ | 7 | ^ | 8 | ^ | 9 | ^ | 10a | · | 10b | ^ | 11 | ^ | 12a | · | 12b | · | 12c | ^ | 13 | ^ | 14 | ^ | 15a | · | 15b | ^ | 16 | ^ | 17 | ^ | 18 | ^ | 19a | · | 19b | · | 19c | ^ |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||
SP2: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP3: | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||||
SP4: | - | |||||||||||||||||||||||||||||||||||||||||||||||||||
SP5: | - | |||||||||||||||||||||||||||||||||||||||||||||||||||
SP6: | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||||
SP7: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP8: |
ExUns: | 20a | · | 20b | ^ | 21 | ^ | 22 | ^ | 23 | ^ | 24 | ^ | 25 | ^ | 26 | ^ | 27a | · | 27b |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | |||||||||||||||||||
SP2: | |||||||||||||||||||
SP3: | |||||||||||||||||||
SP4: | |||||||||||||||||||
SP5: | |||||||||||||||||||
SP6: | |||||||||||||||||||
SP7: | |||||||||||||||||||
SP8: |
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | JAK1 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | JAK1 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | JAK1 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Jak1 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Jak1 30 |
|
||
Oppossum (Monodelphis domestica) |
Mammalia | -- 31 |
|
OneToMany | |
-- 31 |
|
OneToMany | |||
-- 31 |
|
OneToMany | |||
Platypus (Ornithorhynchus anatinus) |
Mammalia | JAK1 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | JAK1 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | -- 31 |
|
OneToMany | |
-- 31 |
|
OneToMany | |||
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | jak1 30 |
|
||
Str.19081 30 |
|
||||
Zebrafish (Danio rerio) |
Actinopterygii | jak1 30 31 |
|
OneToOne | |
Rainbow Trout (Oncorhynchus mykiss) |
Actinopterygii | Omy.9095 30 |
|
||
Worm (Caenorhabditis elegans) |
Secernentea | T14E8.1a 32 |
|
|
|
T14E8.1b 32 |
|
|
|||
Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
OneToMany |
SNP ID | Clinical significance and condition | Chr 01 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
711961 | Benign: not provided | 64,869,304(-) | G/A | INTRON_VARIANT | |
739368 | Likely Benign: not provided | 64,873,493(-) | G/A | SYNONYMOUS_VARIANT | |
740564 | Benign: not provided | 64,834,649(-) | T/C | SYNONYMOUS_VARIANT | |
773145 | Benign: not provided | 64,837,979(-) | A/G | SYNONYMOUS_VARIANT | |
785841 | Benign: not provided | 64,837,964(-) | G/A | SYNONYMOUS_VARIANT |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
dgv172n100 | CNV | gain | 25217958 |
esv2421783 | CNV | deletion | 20811451 |
esv2671749 | CNV | deletion | 23128226 |
esv275588 | CNV | loss | 21479260 |
esv2763311 | CNV | gain | 21179565 |
esv3577904 | CNV | loss | 25503493 |
esv3578582 | CNV | gain | 25503493 |
esv3586273 | CNV | loss | 21293372 |
nsv1005169 | CNV | gain | 25217958 |
nsv1006347 | CNV | gain+loss | 25217958 |
nsv1126199 | CNV | deletion | 24896259 |
nsv525227 | CNV | loss | 19592680 |
nsv823098 | CNV | loss | 20364138 |
nsv830059 | CNV | loss | 17160897 |
nsv945979 | CNV | duplication | 23825009 |
Disorder | Aliases | PubMed IDs |
---|---|---|
breast implant-associated anaplastic large cell lymphoma |
|
|
polycythemia vera |
|
|
leukemia, acute, x-linked |
|
|
hepatitis c |
|
|
polycythemia |
|
|