Gene: JAK1

Alternate names for this Gene: AIIDE|JAK1A|JAK1B|JTK3

Gene 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 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.

Gene is located in Chromosome: 1

Location in Chromosome : 1p31.3

Description of this Gene: Janus kinase 1

Type of Gene: protein-coding

Gene: RAVER2

Alternate names for this Gene: -

Gene Summary:

Gene is located in Chromosome: 1

Location in Chromosome : 1p31.3

Description of this Gene: ribonucleoprotein, PTB binding 2

Type of Gene: protein-coding

rs9128 in JAK1;RAVER2 gene and Body Height PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.