Seroatlas · Human Serome Atlas

JAK1

Tyrosine-protein kinase JAK1

Also known as: JAK1_HUMAN, JAK1A, JAK1B, JTK3

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession: P23458
Gene: JAK1
Ensembl: ENSG00000162434
Chromosome: 1
Canonical length: 1154 aa
Protein class: Cancer-related genes, Disease related genes, Enzymes, FDA approved drug targets, Human disease related genes, Plasma proteins, Predicted intracellular proteins

OverviewNCBI Gene

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, interferon-gamma, and cytokine signal transduction. This gene plays a crucial role in effecting the expression of genes that mediate inflammation, epithelial remodeling, and metastatic cancer progression. This gene is a key component of the interleukin-6 (IL-6)/JAK1/STAT3 immune and inflammation response and is a therapeutic target for alleviating cytokine storms. The kinase activity of this gene is directly inhibited by the suppressor of cytokine signalling 1 (SOCS1) protein. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2020]

Canonical amino-acid sequenceUniProt

1154 residues, UniProt reviewed canonical sequence.

>P23458|JAK1
     1  MQYLNIKEDC NAMAFCAKMR SSKKTEVNLE APEPGVEVIF YLSDREPLRL GSGEYTAEEL
    61  CIRAAQACRI SPLCHNLFAL YDENTKLWYA PNRTITVDDK MSLRLHYRMR FYFTNWHGTN
   121  DNEQSVWRHS PKKQKNGYEK KKIPDATPLL DASSLEYLFA QGQYDLVKCL APIRDPKTEQ
   181  DGHDIENECL GMAVLAISHY AMMKKMQLPE LPKDISYKRY IPETLNKSIR QRNLLTRMRI
   241  NNVFKDFLKE FNNKTICDSS VSTHDLKVKY LATLETLTKH YGAEIFETSM LLISSENEMN
   301  WFHSNDGGNV LYYEVMVTGN LGIQWRHKPN VVSVEKEKNK LKRKKLENKH KKDEEKNKIR
   361  EEWNNFSYFP EITHIVIKES VVSINKQDNK KMELKLSSHE EALSFVSLVD GYFRLTADAH
   421  HYLCTDVAPP LIVHNIQNGC HGPICTEYAI NKLRQEGSEE GMYVLRWSCT DFDNILMTVT
   481  CFEKSEQVQG AQKQFKNFQI EVQKGRYSLH GSDRSFPSLG DLMSHLKKQI LRTDNISFML
   541  KRCCQPKPRE ISNLLVATKK AQEWQPVYPM SQLSFDRILK KDLVQGEHLG RGTRTHIYSG
   601  TLMDYKDDEG TSEEKKIKVI LKVLDPSHRD ISLAFFEAAS MMRQVSHKHI VYLYGVCVRD
   661  VENIMVEEFV EGGPLDLFMH RKSDVLTTPW KFKVAKQLAS ALSYLEDKDL VHGNVCTKNL
   721  LLAREGIDSE CGPFIKLSDP GIPITVLSRQ ECIERIPWIA PECVEDSKNL SVAADKWSFG
   781  TTLWEICYNG EIPLKDKTLI EKERFYESRC RPVTPSCKEL ADLMTRCMNY DPNQRPFFRA
   841  IMRDINKLEE QNPDIVSEKK PATEVDPTHF EKRFLKRIRD LGEGHFGKVE LCRYDPEGDN
   901  TGEQVAVKSL KPESGGNHIA DLKKEIEILR NLYHENIVKY KGICTEDGGN GIKLIMEFLP
   961  SGSLKEYLPK NKNKINLKQQ LKYAVQICKG MDYLGSRQYV HRDLAARNVL VESEHQVKIG
  1021  DFGLTKAIET DKEYYTVKDD RDSPVFWYAP ECLMQSKFYI ASDVWSFGVT LHELLTYCDS
  1081  DSSPMALFLK MIGPTHGQMT VTRLVNTLKE GKRLPCPPNC PDEVYQLMRK CWEFQPSNRT
  1141  SFQNLIEGFE ALLK

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against JAK1 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability: Cell surface
Secreted: No
Transmembrane segments: 0
Mean surface accessibility (rSASA): 0.27
Highest tissue expression: 99 nTPM

Expression across tissuesHPA

Tissue

skeletal muscle: 99 nTPM
adipose tissue: 95 nTPM
tongue: 92 nTPM
spleen: 85 nTPM
breast: 78 nTPM
lung: 75 nTPM

Single-cell type

neutrophils: 1,354 nCPM
nk-cells: 780 nCPM
fibro-adipogenic progenitors: 714 nCPM
somatotrophs: 712 nCPM
endometrial glandular cells: 654 nCPM
bergmann glia: 577 nCPM

Immune cell

NK-cell: 262 nTPM
neutrophil: 154 nTPM
basophil: 142 nTPM
eosinophil: 133 nTPM
total PBMC: 121 nTPM
T-reg: 108 nTPM

Brain region

choroid plexus: 99 nTPM
thalamus: 95 nTPM
medulla oblongata: 86 nTPM
hypothalamus: 81 nTPM
pons: 70 nTPM
midbrain: 65 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about JAK1.

Disease | AllUniProt

Conditions JAK1 is implicated in, by any mechanism.

Autoinflammation, immune dysregulation, and eosinophilia (AIIDE) MIM:618999

Disease | GeneticClinVar

4 pathogenic / likely-pathogenic of 866 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Autoinflammation, immune dysregulation, and eosinophilia
Inborn genetic diseases
Acute megakaryoblastic leukemia in down syndrome

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance): 0.21
gnomAD pLI: 1
gnomAD missense Z: 4.61
DepMap mean gene effect: -0.06
DepMap dependency class: selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Molecular functions

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of JAK1 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads JAK1 as an antibody target. Whether an autoantibody or antibody against JAK1 could matter depends on whether native JAK1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

JAK1 is annotated at the cell surface, where native JAK1 is exposed to circulating antibodies and is a prime autoantibody target that could block, deplete, or overstimulate it.

Annotation status

The present source text does not explicitly label JAK1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Loading the interactive Seroatlas protein explorer...