JAK3 - Janus kinase 3 Gene
Also Known as JAKL; LJAK; JAK-3; L-JAK; JAK3_HUMAN
Species: Homo sapiens
About JAK3
This gene has 11 transcripts (splice variants), 103 orthologues, 32 paralogues and is associated with 129 phenotypes. Biased expression in appendix (RPKM 19.5), lymph node (RPKM 18.2) and 12 other tissues.
Summary
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]
JAK3 Products (4)
| mRNA | Protein | Name |
|---|---|---|
| XM_011527991.3 | XP_011526293.2 | tyrosine-protein kinase JAK3 isoform X2 |
| NM_000215.4 | NP_000206.2 | tyrosine-protein kinase JAK3 |
| XR_007066796.1 | ||
| XM_047438786.1 | XP_047294742.1 | tyrosine-protein kinase JAK3 isoform X1 |
| Molecular Function GO Annotation | Evidence | References | Source |
|---|---|---|---|
| enables protein binding |
IPI
IPI: Inferred from physical interaction
|
9045636 | GOA |
| enables protein phosphatase binding |
IPI
IPI: Inferred from physical interaction
|
11909529 | GOA |
| enables protein tyrosine kinase activity |
IDA
IDA: Inferred from direct assay
|
7973658 | GOA |
| enables protein tyrosine kinase activity |
IMP
IMP: Inferred from mutant phenotype
|
18250158 | GOA |
| Biological Process GO Annotation | Evidence | References | Source |
|---|---|---|---|
| involved in interleukin-15-mediated signaling pathway |
IDA
IDA: Inferred from direct assay
|
7568001 | GOA |
| involved in interleukin-2-mediated signaling pathway |
IDA
IDA: Inferred from direct assay
|
7973659 | GOA |
| involved in interleukin-4-mediated signaling pathway |
IDA
IDA: Inferred from direct assay
|
7538655 | GOA |
| involved in interleukin-7-mediated signaling pathway |
IDA
IDA: Inferred from direct assay
|
9182906 | GOA |
| involved in interleukin-9-mediated signaling pathway |
IDA
IDA: Inferred from direct assay
|
18829468 | GOA |
| involved in negative regulation of T-helper 17 cell lineage commitment |
IDA
IDA: Inferred from direct assay
|
20696842 | GOA |
| involved in response to interleukin-4 |
IDA
IDA: Inferred from direct assay
|
7538655 | GOA |
| Cellular Component GO Annotation | Evidence | References | Source |
|---|---|---|---|
| is active in extrinsic component of cytoplasmic side of plasma membrane |
IDA
IDA: Inferred from direct assay
|
7568001 | GOA |
JAK3 Protein Structure
Pkinase_Tyr: Protein tyrosine kinase (521 - 777)
Pkinase_Tyr: Protein tyrosine kinase (823 - 1093)
- 0
- 200
- 400
- 600
- 800
- 1000
- 1124 a.a.
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
tyrosine-protein kinase JAK3 |
|
JAK3 Protein-protein interaction Information
|
Type
|
Protein Name | Protein ID | Interactor | Interactor Species | Interactor ID | Detection Method | References |
|---|---|---|---|---|---|---|---|
|
Intra
|
JAK3 | P52333 | NAP1L1 | Homo sapiens | P55209 | 32707033 | |
|
Intra
|
JAK3 | P52333 | NAP1L1 | Homo sapiens | P55209 | 25852190 | |
|
Intra
|
JAK3 | P52333 | MAGED2 | Homo sapiens | Q9UNF1 | 32707033 | |
|
Intra
|
JAK3 | P52333 | MAGED2 | Homo sapiens | Q9UNF1 | 25852190 |
JAK3 Antibodies
| Cat. No. | Product Name | Application | Reactivity |
|---|---|---|---|
| HY-P82721 | JAK3 Antibody (YA2466) | WB, ICC/IF | Human |
| HY-P84381 | JAK3 Antibody (YA4078) | WB, ICC/IF, FC, ELISA | Human, Mouse |
| HY-P84381A | JAK3 Antibody (YA4078)(PBS only) | WB, ICC/IF, FC, ELISA | Human, Mouse |
| HY-P85234 | JAK3 Antibody (YA4926) | WB; IHC-P; IHC-F; ICC/IF; IF-Tissue | Human |
| HY-P85716 | JAK3 Antibody (YA5408) | IHC-P | Human, Mouse, Rat |
| HY-P86474 | JAK3 Antibody (YA6166) | WB, ICC/IF, IP, ELISA | Human |
Related Diseases
| Diseases | Alias | |
|---|---|---|
| Hepatocellular Carcinoma |
|
|
| Nk-Cell Enteropathy |
|
|
| Reticular Dysgenesis |
|
|
| Prolymphocytic Leukemia |
|
|
| Chronic Granulomatous Disease |
|
|
| Allergic Disease |
|
|
| Myeloproliferative Neoplasm |
|
|
| Nasopharyngitis |
|
|
| Immunodeficiency 35 |
|
|
| Immune Deficiency Disease |
|
|
| Intellectual Developmental Disorder, Autosomal Dominant 4 |
|
|
| Adult Acute Lymphocytic Leukemia |
|
|
| Reticulosarcoma |
|
|
| Anaplastic Large Cell Lymphoma |
|
|
| Leukemia, Acute Lymphoblastic |
|
|
| Struma Ovarii |
|
|
| Janus Kinase-3 Deficiency |
|
|
| Autoimmune Disease |
|
|
| Inflammatory Bowel Disease 28 |
|
|
| Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative |
|
|
| Adenosine Deaminase Deficiency |
|
|
| Essential Thrombocythemia |
|
|
| Severe Combined Immunodeficiency, X-Linked |
|
|
| Combined Immunodeficiency |
|
|
| Lung Cancer |
|
|
| Hyper Ige Recurrent Infection Syndrome 1 |
|
|
| T-Cell Adult Acute Lymphocytic Leukemia |
|
|
| Alopecia Universalis Congenita |
|
|
| Myeloproliferative Syndrome, Transient |
|
|
| Myelofibrosis |
|
|
| Bare Lymphocyte Syndrome, Type Ii |
|
|
| Purine Nucleoside Phosphorylase Deficiency |
|
|
| Skin Disease |
|
|
| Polycythemia Vera |
|
|
| Sezary'S Disease |
|
|
| Psoriatic Arthritis |
|
|
| Lymphoblastic Leukemia, Acute, With Lymphomatous Features |
|
|
| Juvenile Myelomonocytic Leukemia |
|
|
| Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
|
| Common Variable Immunodeficiency |
|
|
| Severe Combined Immunodeficiency |
|
|
| Mature T-Cell And Nk-Cell Lymphoma |
|
|
| Leukemia, Acute Myeloid |
|
|
| Geotrichosis |
|
|
| T-Cell Prolymphocytic Leukemia |
|
|
| Omenn Syndrome |
|
|
| Down Syndrome |
|
|
| Acute Megakaryocytic Leukemia |
|
|
| Hyper Ige Syndrome |
|
|
Orthologs Information
| Species | Symbol | Source | ID |
|---|---|---|---|
| Canis familiaris | JAK3 | VGNC | VGNC:42177 |
| Rattus norvegicus | JAK3 | RGD | RGD:2940 |
| Macaca mulatta | JAK3 | VGNC | VGNC:73812 |
| Felis catus | JAK3 | VGNC | VGNC:67878 |
| Bos taurus | JAK3 | VGNC | VGNC:30366 |
| Mus musculus | JAK3 | MGD | MGI:99928 |
| Others | JAK3 | NCBI |