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Details on Person UniProt:P52333 JAK3
| Class:Id | ReferenceGeneProduct:57649 |
|---|---|
| _chainChangeLog | chain:1-1124 added on Fri February 6 2015 |
| _displayName | UniProt:P52333 JAK3 |
| _timestamp | 2025-02-21 18:47:45 |
| chain | chain:1-1124 |
| checksum | 895D8563439B2B7C |
| comment | FUNCTION Non-receptor tyrosine kinase involved in various processes such as cell growth, development, or differentiation. Mediates essential signaling events in both innate and adaptive immunity and plays a crucial role in hematopoiesis during T-cells development. In the cytoplasm, plays a pivotal role in signal transduction via its association with type I receptors sharing the common subunit gamma such as IL2R, IL4R, IL7R, IL9R, IL15R and IL21R. Following ligand binding to cell surface receptors, phosphorylates specific tyrosine residues on the cytoplasmic tails of the receptor, creating docking sites for STATs proteins. Subsequently, phosphorylates the STATs proteins once they are recruited to the receptor. Phosphorylated STATs then form homodimer or heterodimers and translocate to the nucleus to activate gene transcription. For example, upon IL2R activation by IL2, JAK1 and JAK3 molecules bind to IL2R beta (IL2RB) and gamma chain (IL2RG) subunits inducing the tyrosine phosphorylation of both receptor subunits on their cytoplasmic domain. Then, STAT5A and STAT5B are recruited, phosphorylated and activated by JAK1 and JAK3. Once activated, dimerized STAT5 translocates to the nucleus and promotes the transcription of specific target genes in a cytokine-specific fashion.CATALYTIC ACTIVITY L-tyrosyl-[protein] + ATP = O-phospho-L-tyrosyl-[protein] + ADP + H(+)SUBUNIT Interacts with STAM2 and MYO18A (PubMed:10899310). Interacts with SHB (PubMed:12200137). Interacts with CD69 (By similarity).INTERACTION In NK cells and an NK-like cell line but not in resting T-cells or in other tissues. The S-form is more commonly seen in hematopoietic lines, whereas the B-form is detected in cells both of hematopoietic and epithelial origins.DOMAIN Possesses two phosphotransferase domains. The second one probably contains the catalytic domain (By similarity), while the presence of slight differences suggest a different role for domain 1.PTM Tyrosine phosphorylated in response to IL-2 and IL-4. Dephosphorylation of Tyr-980 and Tyr-981 by PTPN2 negatively regulates cytokine-mediated signaling (Probable).DISEASE The disease is caused by variants affecting the gene represented in this entry.MISCELLANEOUS May be inactive as it lacks some part of the kinase domain.SIMILARITY Belongs to the protein kinase superfamily. Tyr protein kinase family. JAK subfamily.SEQUENCE CAUTION Wrong choice of CDS. Was erroneously described as an isoform JAK3M while it is a fragmentary mRNA of INSL3.ONLINE INFORMATION JAK3 mutation db |
| description | recommendedName: fullName evidence="26"Tyrosine-protein kinase JAK3 ecNumber: 2.7.10.2 alternativeName: Janus kinase 3 shortName: JAK-3 alternativeName: Leukocyte janus kinase shortName: L-JAK |
| geneName | JAK3 |
| identifier | P52333 |
| isSequenceChanged | FALSE |
| keyword | 3D-structure Adaptive immunity Alternative splicing ATP-binding Cytoplasm Disease variant Immunity Innate immunity Kinase Membrane Nucleotide-binding Phosphoprotein Proteomics identification Reference proteome Repeat SCID SH2 domain Transferase Tyrosine-protein kinase |
| modified | [InstanceEdit:9836292] Weiser, Joel, 2023-05-25 [InstanceEdit:9852000] Weiser, Joel, 2023-11-03 [InstanceEdit:9917590] Weiser, Joel, 2024-08-09 [InstanceEdit:9926675] Weiser, Joel, 2024-11-03 [InstanceEdit:9939033] Weiser, Joel, 2025-02-21 |
| name | JAK3 |
| referenceDatabase | [ReferenceDatabase:2] UniProt |
| referenceGene | [ReferenceDNASequence:8990781] ENSEMBL:ENSG00000105639 JAK3 [Homo sapiens] |
| secondaryIdentifier | JAK3_HUMAN Q13259 Q13260 Q13611 Q8N1E8 Q99699 Q9Y6S2 |
| sequenceLength | 1124 |
| species | [Species:48887] Homo sapiens |
| (isoformParent) | [ReferenceIsoform:149033] UniProt:P52333-2 JAK3 [Homo sapiens] [ReferenceIsoform:404323] UniProt:P52333-1 JAK3 [Homo sapiens] [ReferenceIsoform:8976551] UniProt:P52333-4 JAK3 [Homo sapiens] |
| (referenceEntity) | [EntityWithAccessionedSequence:451893] JAK3 [cytosol] [Homo sapiens] [EntityWithAccessionedSequence:5602372] JAK3 Y100C [cytosol] [Homo sapiens] [EntityWithAccessionedSequence:5602414] JAK3 P151R [cytosol] [Homo sapiens] [EntityWithAccessionedSequence:5602424] JAK3 C759R [cytosol] [Homo sapiens] [EntityWithAccessionedSequence:5602467] JAK3 del586-592 [cytosol] [Homo sapiens] [EntityWithAccessionedSequence:5602656] JAK3 A58del [cytosol] [Homo sapiens] [EntityWithAccessionedSequence:5602727] JAK3 D169E [cytosol] [Homo sapiens] [EntityWithAccessionedSequence:5602741] JAK3 G589S [cytosol] [Homo sapiens] [EntityWithAccessionedSequence:5602817] JAK3 E481G [cytosol] [Homo sapiens] [EntityWithAccessionedSequence:5607969] JAK3 del482-596 [cytosol] [Homo sapiens] |
| (referenceSequence) | [ReplacedResidue:5602430] L-proline 151 replaced with L-arginine [ReplacedResidue:5602597] L-aspartic acid 169 replaced with L-glutamic acid [ReplacedResidue:5602602] L-cysteine 759 replaced with L-arginine [FragmentDeletionModification:5602613] Deletion of residues 58 to 58 [FragmentDeletionModification:5602614] Deletion of residues 586 to 592 [ReplacedResidue:5602616] L-tyrosine 100 replaced with L-cysteine [ReplacedResidue:5602637] glycine 589 replaced with L-serine [ReplacedResidue:5602799] L-glutamic acid 481 replaced with glycine [FragmentDeletionModification:5602814] Deletion of residues 482 to 596 [ModifiedResidue:8982777] phosphorylated residue at unknown position |
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No pathways have been reviewed or authored by UniProt:P52333 JAK3 (57649)
