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MGP003231

UniProt Annotations

Entry Information
Gene NameTYRO protein tyrosine kinase binding protein
Protein Entry
UniProt IDX6RGC9
SpeciesHuman
Comments
Comment typeDescription
Alternative ProductsEvent=Alternative splicing; Named isoforms=3; Name=1; Synonyms=KARAP-a; IsoId=O43914-1; Sequence=Displayed; Name=2; Synonyms=KARAP-b; IsoId=O43914-2; Sequence=VSP_012909; Name=3; IsoId=O43914-3; Sequence=VSP_046066; Note=No experimental confirmation available.;
DiseasePolycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy (PLOSL) [MIM:221770]: Recessively inherited disease characterized by a combination of psychotic symptoms rapidly progressing to presenile dementia and bone cysts restricted to wrists and ankles. PLOSL has a global distribution, although most of the patients have been diagnosed in Finland and Japan, with an estimated population prevalence of 2x10(-6) in the Finns. Note=The disease is caused by mutations affecting the gene represented in this entry.
FunctionNon-covalently associates with activating receptors of the CD300 family. Cross-linking of CD300-TYROBP complexes results in cellular activation. Involved for instance in neutrophil activation mediated by integrin.
InteractionSelf; NbExp=2; IntAct=EBI-2214794, EBI-2214794; P26717:KLRC2; NbExp=2; IntAct=EBI-2214794, EBI-3862171; O00241:SIRPB1; NbExp=4; IntAct=EBI-2214794, EBI-2615458;
PtmTyrosine phosphorylated.
SimilarityBelongs to the TYROBP family. {ECO:0000305}.
SimilarityContains 1 ITAM domain. {ECO:0000305}.
Subcellular LocationMembrane; Single-pass type I membrane protein.
SubunitHomodimer; disulfide-linked. Interacts with SIRPB1 and TREM1. Interacts with CLECSF5. Interacts with SIGLEC14. Interacts with CD300LB and CD300E. Interacts with CD300D (By similarity). Interacts (via ITAM domain) with SYK (via SH2 domains); activates SYK mediating neutrophils and macrophages integrin-mediated activation (By similarity). Interacts with KLRC2 and KIR2DS3. {ECO:0000250, ECO:0000269|PubMed:10449773, ECO:0000269|PubMed:10799849, ECO:0000269|PubMed:15557162, ECO:0000269|PubMed:16920917, ECO:0000269|PubMed:17012248, ECO:0000269|PubMed:17928527, ECO:0000269|PubMed:20890284}.
Tissue SpecificityExpressed at low levels in the early development of the hematopoietic system and in the promonocytic stage and at high levels in mature monocytes. Expressed in hematological cells and tissues such as peripheral blood leukocytes and spleen. Also found in bone marrow, lymph nodes, placenta, lung and liver. Expressed at lower levels in different parts of the brain especially in the basal ganglia and corpus callosum. {ECO:0000269|PubMed:11922939}.
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