ITK
entrez
3702
canonical
uniprot
Q08881
canonical
ensembl
ENSG00000113263
resolver
ensp
ENSP00000398655
resolver
enst
ENST00000422843
resolver
genesymbol
ITK
resolver
genesymbol_syn
EMT
resolver
genesymbol_syn
LYK
resolver
hgnc
HGNC:6171
resolver
uniprot
B2R752
resolver
uniprot
Q32ML7
resolver
uniprot_entry
ITK_HUMAN
resolver
uniprot_sec
B2R752
resolver
uniprot_sec
Q32ML7
resolver
amino_acid_sequence
MNNFILLEEQLIKKSQQKRRTSPSNFKVRFFVLTKASLAYFEDRHGKKRTLKGSIELSRIKCVEIVKSDISIPCHYKYPFQVVHDNYLLYVFAPDRESRQRWVLALKEETRNNNSLVPKYHPNFWMDGKWRCCSQLEKLATGCAQYDPTKNASKKPLPPTPEDNRRPLWEPEETVVIALYDYQTNDPQELALRRNEEYCLLDSSEIHWWRVQDRNGHEGYVPSSYLVEKSPNNLETYEWYNKSISRDKAEKLLLDTGKEGAFMVRDSRTAGTYTVSVFTKAVVSENNPCIKHYHIKETNDNPKRYYVAEKYVFDSIPLLINYHQHNGGGLVTRLRYPVCFGRQKAPVTAGLRYGKWVIDPSELTFVQEIGSGQFGLVHLGYWLNKDKVAIKTIREGAMSEEDFIEEAEVMMKLSHPKLVQLYGVCLEQAPICLVFEFMEHGCLSDYLRTQRGLFAAETLLGMCLDVCEGMAYLEEACVIHRDLAARNCLVGENQVIKVSDFGMTRFVLDDQYTSSTGTKFPVKWASPEVFSFSRYSSKSDVWSFGVLMWEVFSEGKIPYENRSNSEVVEDISTGFRLYKPRLASTHVYQIMNHCWKERPEDRPAFSRLLRQLAEIAESGL
uniprot
proteins
disease_involvement
DISEASE: Lymphoproliferative syndrome 1 (LPFS1) [MIM:613011]: A rare immunodeficiency characterized by extreme susceptibility to infection with Epstein-Barr virus (EBV). Inadequate immune response to EBV can have a fatal outcome. Clinical features include splenomegaly, lymphadenopathy, anemia, thrombocytopenia, pancytopenia, recurrent infections. There is an increased risk for lymphoma. {ECO:0000269|PubMed:19425169}. 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: Tyrosine kinase that plays an essential role in regulation of the adaptive immune response. Regulates the development, function and differentiation of conventional T-cells and nonconventional NKT-cells. When antigen presenting cells (APC) activate T-cell receptor (TCR), a series of phosphorylation lead to the recruitment of ITK to the cell membrane, in the vicinity of the stimulated TCR receptor, where it is phosphorylated by LCK. Phosphorylation leads to ITK autophosphorylation and full activation. Once activated, phosphorylates PLCG1, leading to the activation of this lipase and subsequent cleavage of its substrates. In turn, the endoplasmic reticulum releases calcium in the cytoplasm and the nuclear activator of activated T-cells (NFAT) translocates into the nucleus to perform its transcriptional duty. Phosphorylates 2 essential adapter proteins: the linker for activation of T-cells/LAT protein and LCP2. Then, a large number of signaling molecules such as VAV1 are recruited and ultimately lead to lymphokine production, T-cell proliferation and differentiation (PubMed:12186560, PubMed:12682224, PubMed:21725281). Required for TCR-mediated calcium response in gamma-delta T-cells, may also be involved in the modulation of the transcriptomic signature in the Vgamma2-positive subset of immature gamma-delta T-cells (By similarity). Phosphorylates TBX21 at 'Tyr-530' and mediates its interaction with GATA3 (By similarity). {ECO:0000250|UniProtKB:Q03526, ECO:0000269|PubMed:12186560, ECO:0000269|PubMed:12682224, ECO:0000269|PubMed:21725281}.
uniprot
proteins
mass_dalton
71831
uniprot
proteins
mutagenesis
MUTAGEN 288; /note="P->G: Complete loss of interaction with PPIA/CYPA."; /evidence="ECO:0000269|PubMed:15308100
uniprot
proteins
post_translational_modification
PTM: Phosphorylated at Tyr-512 in the activation loop of the kinase domain by LCK. Subsequent autophosphorylation at Tyr-180 leads to the kinase activation. The autophosphorylated Tyr-180 lies within the substrate binding sequence of the SH3 domain. {ECO:0000269|PubMed:12573241, ECO:0000269|PubMed:9312162}.; PTM: Ubiquitinated. {ECO:0000269|PubMed:20596523}.
uniprot
proteins
protein_family
Protein kinase superfamily
uniprot
proteins
protein_family
TEC subfamily
uniprot
proteins
protein_family
Tyr protein kinase family
uniprot
proteins
pubmed
10795735
uniprot
proteins
pubmed
12186560
uniprot
proteins
pubmed
12573241
uniprot
proteins
pubmed
12682224
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15144186
uniprot
proteins
pubmed
15308100
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15661896
uniprot
proteins
pubmed
17060314
uniprot
proteins
pubmed
17344846
uniprot
proteins
pubmed
19425169
uniprot
proteins
pubmed
19523959
uniprot
proteins
pubmed
19690332
uniprot
proteins
pubmed
19807924
uniprot
proteins
pubmed
20596523
uniprot
proteins
pubmed
21725281
uniprot
proteins
pubmed
8364206
uniprot
proteins
pubmed
8504851
uniprot
proteins
pubmed
9312162
uniprot
proteins
pubmed
9701039
uniprot
proteins
sequence_length
620
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:17060314}. Nucleus {ECO:0000250|UniProtKB:Q03526}. Note=Localizes in the vicinity of cell surface receptors in the plasma membrane after receptor stimulation.
uniprot
proteins