JAK3 Gene Summary [Human]
The protein encoded by this gene is a member of the Janus kinase (JAK) family of tyrosine kinases involved in cytokine receptor-mediated intracellular signal transduction. It is predominantly expressed in immune cells and transduces a signal in response to its activation via tyrosine phosphorylation by interleukin receptors. Mutations in this gene are associated with autosomal SCID (severe combined immunodeficiency disease). [provided by RefSeq, Jul 2008]
Details
| Type | Retained Intron |
| Official Symbol | JAK3 |
| Official Name | Janus kinase 3 [Source:HGNC Symbol;Acc:HGNC:6193] |
| Ensembl ID | ENSG00000105639 |
| Bio databases IDs | |
| Aliases | Janus kinase 3, tyrosine-protein kinase JAK3, leukocyte Janus kinase |
| Synonyms | fae, JAKL, Janus kinase 3, L-JAK, RATJAK3, wil |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human JAK3 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- Band 4.1 homologues
- Protein kinase (unclassified specificity)
- catalytic domain
- Protein tyrosine and serine/threonine kinase
- protein phosphatase binding
- Jak Homology domain
- kinase-like domain
- FERM F1 ubiquitin-like domain
- protein binding
- Pleckstrin homology-like domain
- protein-tyrosine kinase
- Protein kinase domain
- kinase
- Serine/Threonine protein kinases, catalytic domain
- FERM domain
- kinase domain
- receptor binding domain
- Protein Kinases, catalytic domain
- tyrosine kinase domain
- active site
- Src homology 2 (SH2) domain
- FERM domain B-lobe
- Tyrosine kinase, catalytic domain
Pathways
Biological processes and signaling networks where the JAK3 gene in human plays a role, providing insight into its function and relevance in health or disease.
- CD40 Signaling
- ErbB2-ErbB3 Signaling
- Glucocorticoid Receptor Signaling
- IL-15 Production
- IL-17A Signaling in Airway Cells
- IL-2 Signaling
- IL-7 Signaling Pathway
- IL-9 Signaling
- iNOS Signaling
- JAK/Stat Signaling
- Molecular Mechanisms of Cancer
- Mouse Embryonic Stem Cell Pluripotency
- Oncostatin M Signaling
- Pancreatic Adenocarcinoma Signaling
- PDGF Signaling
- Primary Immunodeficiency Signaling
- Regulation of the Epithelial-Mesenchymal Transition Pathway
- Role of JAK1 and JAK3 in γc Cytokine Signaling
- Role of NANOG in Mammalian Embryonic Stem Cell Pluripotency
- SPINK1 General Cancer Pathway
- Th1 and Th2 Activation Pathway
- Th1 Pathway
- Th2 Pathway
- Transcriptional Regulatory Network in Embryonic Stem Cells
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- obesity
- abdominal cancer
- cancer
- systemic lupus erythematosus
- Crohn disease
- dermatomyositis
- uveitis
- ulcerative colitis
- rheumatoid arthritis
- juvenile rheumatoid arthritis
role in cell
- expression in
- phosphorylation in
- production in
- growth
- activation in
- number
- cell death
- proliferation
- apoptosis
- quantity
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Cytoplasm
- membrane fraction
- Nucleus
- Plasma Membrane
- endosomes
- cytosol
- apical cell surfaces
- basolateral cell surfaces
- cytoplasmic face of plasma membrane
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human JAK3 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- interleukin-9-mediated signaling pathway
- peptidyl-tyrosine phosphorylation
- interleukin-2-mediated signaling pathway
- negative regulation of interleukin-10 production
- protein phosphorylation
- negative regulation of T-helper 1 cell differentiation
- JAK-STAT cascade
- T cell homeostasis
- negative regulation of dendritic cell cytokine production
- negative regulation of thymocyte apoptotic process
- cytokine-mediated signaling pathway
- response to interleukin-2
- intracellular signal transduction
- interleukin-4-mediated signaling pathway
- tyrosine phosphorylation of STAT protein
- JAK-STAT cascade involved in growth hormone signaling pathway
- B cell differentiation
- regulation of JAK-STAT cascade
- adaptive immune response
- regulation of apoptotic process
- enzyme linked receptor protein signaling pathway
- regulation of T cell apoptotic process
- response to interleukin-15
- negative regulation of FasL biosynthetic process
- response to interleukin-4
- innate immune response
- interleukin-15-mediated signaling pathway
- cell differentiation
- negative regulation of T cell activation
- negative regulation of interleukin-12 production
- response to interleukin-9
Cellular Component
Where in the cell the gene product is active
- endosome
- cytoskeleton
- extrinsic to internal side of plasma membrane
- cytosol
- extrinsic to plasma membrane
- plasma membrane
Molecular Function
What the gene product does at the molecular level
- ATP binding
- protein tyrosine kinase activity
- protein binding
- protein phosphatase binding
- non-membrane spanning protein tyrosine kinase activity
- growth hormone receptor binding