ID:TYOBP_HUMAN DESCRIPTION: RecName: Full=TYRO protein tyrosine kinase-binding protein; AltName: Full=DNAX-activation protein 12; AltName: Full=Killer-activating receptor-associated protein; Short=KAR-associated protein; Flags: Precursor; FUNCTION: Non-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. SUBUNIT: Homodimer; 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. INTERACTION: Self; 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; SUBCELLULAR LOCATION: Membrane; Single-pass type I membrane protein. TISSUE SPECIFICITY: Expressed 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. PTM: Tyrosine phosphorylated. DISEASE: Defects in TYROBP are a cause of polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy (PLOSL) [MIM:221770]; also called presenile dementia with bone cysts or Nasu-Hakola disease (NHD). PLOSL is a 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. SIMILARITY: Belongs to the TYROBP family. SIMILARITY: Contains 1 ITAM domain. WEB RESOURCE: Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/TYROBP";
Protein Domain and Structure Information
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Other Names for This Gene
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Methods, Credits, and Use Restrictions
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