InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: TYROBP

Summary

InnateDB Protein

IDBP-378502.5

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

TYROBP

Protein Name

TYRO protein tyrosine kinase binding protein

Synonyms

DAP12; KARAP; PLOSL;

Species

Homo sapiens

Ensembl Protein

ENSP00000402371

InnateDB Gene

IDBG-46035 (TYROBP)

Protein Structure

UniProt Annotation

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.

Subcellular Localization

Membrane; Single-pass type I membrane protein.

Disease Associations

Polycystic 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.

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. {ECO:0000269PubMed:11922939}.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 17 experimentally validated interaction(s) in this database.
They are also associated with 6 interaction(s) predicted by orthology.