ImmunoDeficiency Resource (IDR)

Names

HUGO name: JAK3

Alias(es):

Localization

Reference sequences

Chromosomal location

Maps

Variations / Mutations

• JAK3base; Mutation registry for autosomal recessive severe combined JAK3 deficiency

Other gene-based resources

Description

Protein function:

Tyrosine kinase of the non-receptor type, involved in the interleukin-2 and interleukin-4 signaling pathway. Phosphorylates STAT6, IRS1, IRS2 and PI3k

Catalytic activity:

ATP + a protein tyrosine = ADP + protein tyrosine phosphate

Subcellular location:

Wholly intracellular, possibly membrane associated (by similarity)

Post-translational modification:

Tyrosine phosphorylated in response to IL-2 and IL-4

Alternative products:

3 isoforms; 1/JAK3b/breast-JAK3, 2/JAK3s/spleen-JAK3 and 3/JAK3m/activated monocytes-JAK3; are produced by alternative splicing. Isoform 1 may be defective as it lack some part of the kinase domain

Structures (PDB)

Domains

SH2 (atypical) domain: 375-475

Protein kinase 1 domain: 521-781

Protein kinase 2 domain: 822-1111

Other features

ATP nucleotide phosphate-binding region: 828-836

ATP binding site: 855

Other related resourses:

Expression pattern for human

Animal models

Mouse:

FlyBase: