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UniProt functional annotation for P29597 | ||
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| UniProt code: P29597. |
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| Organism: | |
Homo sapiens (Human). |
| Taxonomy: | |
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo. |
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| Function: | |
Probably involved in intracellular signal transduction by being involved in the initiation of type I IFN signaling. Phosphorylates the interferon-alpha/beta receptor alpha chain. {ECO:0000269|PubMed:7526154}. |
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| Catalytic activity: | |
Reaction=ATP + L-tyrosyl-[protein] = ADP + H(+) + O-phospho-L-tyrosyl- [protein]; Xref=Rhea:RHEA:10596, Rhea:RHEA-COMP:10136, Rhea:RHEA- COMP:10137, ChEBI:CHEBI:15378, ChEBI:CHEBI:30616, ChEBI:CHEBI:46858, ChEBI:CHEBI:82620, ChEBI:CHEBI:456216; EC=2.7.10.2; Evidence={ECO:0000255|PROSITE-ProRule:PRU10028}; |
| Subunit: | |
Interacts with JAKMIP1. {ECO:0000269|PubMed:15277531, ECO:0000269|PubMed:20478313}. |
| Tissue specificity: | |
Observed in all cell lines analyzed. Expressed in a variety of lymphoid and non-lymphoid cell lines. {ECO:0000269|PubMed:2156206}. |
| Domain: | |
The FERM domain mediates interaction with JAKMIP1. |
| Disease: | |
Immunodeficiency 35 (IMD35) [MIM:611521]: A primary immunodeficiency characterized by recurrent skin abscesses, pneumonia, and highly elevated serum IgE. {ECO:0000269|PubMed:17088085}. Note=The disease is caused by variants affecting the gene represented in this entry. |
| Similarity: | |
Belongs to the protein kinase superfamily. Tyr protein kinase family. JAK subfamily. {ECO:0000255|PROSITE-ProRule:PRU00159}. |
Annotations taken from UniProtKB at the EBI.