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TYRO protein tyrosine kinase-binding protein; DNAX-activation protein 12; killer-activating receptor-associated protein; KAR-associated protein (TYROBP, DAP12, KARAP)
Function:
- non-covalently associates with activating receptors of the CD300 family
- cross-linking of CD300-TYROBP complexes results in cellular activation
- Tyr phosphorylated
- interacts with SIRPB1 & TREM1
- interacts with CLECSF5
- interacts with SIGLEC14
- interacts with CD300LB & CD300E
- interacts with CD300D (putative)
Structure:
- homodimer; disulfide-linked
- belongs to the TYROBP family
Compartment:
- membrane; single-pass type 1 membrane protein
Alternative splicing:
- named isoforms=2
Expression:
- expressed at low levels in the early development of the hematopoietic system & in the promonocytic stage & at high levels in mature monocytes
- expressed in hematological cells & tissues such as peripheral blood leukocytes & spleen
- also found in bone marrow, lymph nodes, placenta, lung & liver
- expressed at lower levels in different parts of the brain especially in the basal ganglia & corpus callosum
Pathology:
- defects in TYROBP are a cause of Nasu-Hakola disease
Related
TYROBP gene mutation
General
membrane protein
phosphoprotein
receptor
Properties
SIZE: entity length = 113 aa
MW = 12 kD
COMPARTMENT: cellular membrane
MOTIF: signal sequence {1-21}
transmembrane domain {41-61}
Tyr phosphorylation site {Y91}
Tyr phosphorylation site {Y102}
Database Correlations
OMIM correlations
MORBIDMAP 604142
UniProt O43914
Entrez Gene 7305
Kegg hsa:7305
References
- UniProt :accession O43914
- GeneReviews
http://www.ncbi.nlm.nih.gov/sites/genetests/lab/gene/TYROBP