JAK1

Also known as JAK1A, JAK1B, JTK3, Janus kinase 1, AIIDE

protein-coding gene

Gene data

JAK1

Name: Janus kinase 1
Type: protein-coding
Position: 64,833,223–65,067,754 (−)
Aliases: AIIDE, JAK1A, JAK1B, JTK3
Ensembl: ENSG00000162434
RefSeq RNA: NM_001320923.2, NM_001321852.2, NM_001321853.2, NM_001321854.2, NM_001321855.2
RefSeq protein: NP_001307852.1, NP_001308781.1, NP_001308782.1, NP_001308783.1, NP_001308784.1

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].