JAK3
entrez
3718
canonical
uniprot
P52333
canonical
ensembl
ENSG00000105639
resolver
ensp
ENSP00000391676
resolver
ensp
ENSP00000432511
resolver
genesymbol
JAK3
resolver
hgnc
HGNC:6193
resolver
uniprot
Q13259
resolver
uniprot
Q13260
resolver
uniprot
Q13611
resolver
uniprot
Q8N1E8
resolver
uniprot
Q99699
resolver
uniprot
Q9Y6S2
resolver
uniprot_entry
JAK3_HUMAN
resolver
uniprot_sec
Q13259
resolver
uniprot_sec
Q13260
resolver
uniprot_sec
Q13611
resolver
uniprot_sec
Q8N1E8
resolver
uniprot_sec
Q99699
resolver
uniprot_sec
Q9Y6S2
resolver
amino_acid_sequence
MAPPSEETPLIPQRSCSLLSTEAGALHVLLPARGPGPPQRLSFSFGDHLAEDLCVQAAKASGILPVYHSLFALATEDLSCWFPPSHIFSVEDASTQVLLYRIRFYFPNWFGLEKCHRFGLRKDLASAILDLPVLEHLFAQHRSDLVSGRLPVGLSLKEQGECLSLAVLDLARMAREQAQRPGELLKTVSYKACLPPSLRDLIQGLSFVTRRRIRRTVRRALRRVAACQADRHSLMAKYIMDLERLDPAGAAETFHVGLPGALGGHDGLGLLRVAGDGGIAWTQGEQEVLQPFCDFPEIVDISIKQAPRVGPAGEHRLVTVTRTDNQILEAEFPGLPEALSFVALVDGYFRLTTDSQHFFCKEVAPPRLLEEVAEQCHGPITLDFAINKLKTGGSRPGSYVLRRSPQDFDSFLLTVCVQNPLGPDYKGCLIRRSPTGTFLLVGLSRPHSSLRELLATCWDGGLHVDGVAVTLTSCCIPRPKEKSNLIVVQRGHSPPTSSLVQPQSQYQLSQMTFHKIPADSLEWHENLGHGSFTKIYRGCRHEVVDGEARKTEVLLKVMDAKHKNCMESFLEAASLMSQVSYRHLVLLHGVCMAGDSTMVQEFVHLGAIDMYLRKRGHLVPASWKLQVVKQLAYALNYLEDKGLPHGNVSARKVLLAREGADGSPPFIKLSDPGVSPAVLSLEMLTDRIPWVAPECLREAQTLSLEADKWGFGATVWEVFSGVTMPISALDPAKKLQFYEDRQQLPAPKWTELALLIQQCMAYEPVQRPSFRAVIRDLNSLISSDYELLSDPTPGALAPRDGLWNGAQLYACQDPTIFEERHLKYISQLGKGNFGSVELCRYDPLGDNTGALVAVKQLQHSGPDQQRDFQREIQILKALHSDFIVKYRGVSYGPGRQSLRLVMEYLPSGCLRDFLQRHRARLDASRLLLYSSQICKGMEYLGSRRCVHRDLAARNILVESEAHVKIADFGLAKLLPLDKDYYVVREPGQSPIFWYAPESLSDNIFSRQSDVWSFGVVLYELFTYCDKSCSPSAEFLRMMGCERDVPALCRLLELLEEGQRLPAPPACPAEVHELMKLCWAPSPQDRPSFSALGPQLDMLWSGSRGCETHAFTAHPEGKHHSLSFS
uniprot
proteins
disease_involvement
DISEASE: Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-positive/NK-cell-negative (T(-)B(+)NK(-) SCID) [MIM:600802]: A form of severe combined immunodeficiency (SCID), a genetically and clinically heterogeneous group of rare congenital disorders characterized by impairment of both humoral and cell-mediated immunity, leukopenia, and low or absent antibody levels. Patients present in infancy recurrent, persistent infections by opportunistic organisms. The common characteristic of all types of SCID is absence of T-cell-mediated cellular immunity due to a defect in T-cell development. {ECO:0000269|PubMed:10982185, ECO:0000269|PubMed:14615376, ECO:0000269|PubMed:7659163, ECO:0000269|PubMed:9354668, ECO:0000269|PubMed:9753072}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
2.7.10.2
uniprot
proteins
function
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. {ECO:0000269|PubMed:11909529, ECO:0000269|PubMed:20440074, ECO:0000269|PubMed:7662955, ECO:0000269|PubMed:8022485}.
uniprot
proteins
mass_dalton
125099
uniprot
proteins
mutagenesis
MUTAGEN 785; /note="Y->F: Strong decrease of JAK3 phosphorylation."; /evidence="ECO:0000269|PubMed:15121872"; MUTAGEN 855; /note="K->A: More than 90% loss of STAT5a activation."; /evidence="ECO:0000269|PubMed:18250158"; MUTAGEN 904; /note="Y->F: About 40% loss of STAT5a activation."; /evidence="ECO:0000269|PubMed:18250158"; MUTAGEN 939; /note="Y->F: About 80% loss of STAT5a activation."; /evidence="ECO:0000269|PubMed:18250158
uniprot
proteins
post_translational_modification
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). {ECO:0000305|PubMed:11909529, ECO:0000305|PubMed:15121872, ECO:0000305|PubMed:15831699, ECO:0000305|PubMed:18250158}.
uniprot
proteins
protein_family
JAK subfamily
uniprot
proteins
protein_family
Protein kinase superfamily
uniprot
proteins
protein_family
Tyr protein kinase family
uniprot
proteins
pubmed
10899310
uniprot
proteins
pubmed
10982185
uniprot
proteins
pubmed
11909529
uniprot
proteins
pubmed
12200137
uniprot
proteins
pubmed
12351625
uniprot
proteins
pubmed
14615376
uniprot
proteins
pubmed
15057824
uniprot
proteins
pubmed
15121872
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15592455
uniprot
proteins
pubmed
15831699
uniprot
proteins
pubmed
17344846
uniprot
proteins
pubmed
18250158
uniprot
proteins
pubmed
19290934
uniprot
proteins
pubmed
19369195
uniprot
proteins
pubmed
19690332
uniprot
proteins
pubmed
20440074
uniprot
proteins
pubmed
7535338
uniprot
proteins
pubmed
7559633
uniprot
proteins
pubmed
7659163
uniprot
proteins
pubmed
7662955
uniprot
proteins
pubmed
8022485
uniprot
proteins
pubmed
8022790
uniprot
proteins
pubmed
8662778
uniprot
proteins
pubmed
8921370
uniprot
proteins
pubmed
9354668
uniprot
proteins
pubmed
9753072
uniprot
proteins
sequence_length
1124
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Endomembrane system {ECO:0000250}; Peripheral membrane protein {ECO:0000250}. Cytoplasm {ECO:0000250}.
uniprot
proteins