TYROBP

TYRO protein tyrosine kinase-binding protein is an adapter protein that in humans is encoded by the TYROBP gene.^[5][6]

TYROBP
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 2L34, 2L35, 4WO1, 4WOL
Identifiers
Aliases	TYROBP, DAP12, KARAP, PLOSL, TYRO protein tyrosine kinase binding protein, PLOSL1, transmembrane immune signaling adaptor TYROBP
External IDs	OMIM: 604142; MGI: 1277211; HomoloGene: 7986; GeneCards: TYROBP; OMA:TYROBP - orthologs
Gene location (Human) Chr. Chromosome 19 (human)[1] Band 19q13.12 Start 35,904,401 bp[1] End 35,908,295 bp[1]
Gene location (Mouse) Chr. Chromosome 7 (mouse)[2] Band 7 B1|7 17.45 cM Start 30,113,185 bp[2] End 30,117,010 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in monocyte granulocyte blood spleen right lung bone marrow periodontal fiber upper lobe of left lung bone marrow cells gallbladder Top expressed in granulocyte tibiofemoral joint mesenteric lymph nodes spleen calvaria stroma of bone marrow right lung lobe blood internal carotid artery dermis More reference expression data BioGPS More reference expression data
Gene ontology Molecular function signaling receptor binding protein binding identical protein binding metal ion binding Cellular component integral component of membrane cell surface plasma membrane integral component of plasma membrane membrane secretory granule membrane Biological process integrin-mediated signaling pathway macrophage activation involved in immune response cellular defense response neutrophil activation involved in immune response intracellular signal transduction innate immune response regulation of osteoclast development signal transduction regulation of immune response neutrophil degranulation osteoclast differentiation myeloid leukocyte activation positive regulation of natural killer cell activation positive regulation of macrophage fusion protein stabilization positive regulation of microglial cell mediated cytotoxicity positive regulation of protein localization to cell surface positive regulation of osteoclast development microglial cell activation involved in immune response positive regulation of gene expression actin cytoskeleton organization negative regulation of B cell proliferation forebrain development negative regulation of transforming growth factor beta1 production positive regulation of superoxide anion generation response to axon injury apoptotic signaling pathway positive regulation of hippocampal neuron apoptotic process negative regulation of long-term synaptic potentiation positive regulation of neuron death positive regulation of receptor localization to synapse apoptotic cell clearance immune system process Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 7305 22177 Ensembl ENSG00000011600 ENSMUSG00000030579 UniProt O43914 O54885 RefSeq (mRNA) NM_001173514 NM_001173515 NM_003332 NM_198125 NM_011662 RefSeq (protein) NP_001166985 NP_001166986 NP_003323 NP_937758 NP_035792 Location (UCSC) Chr 19: 35.9 – 35.91 Mb Chr 7: 30.11 – 30.12 Mb PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

Function

For zeta-chain, see T-cell surface glycoprotein CD3 zeta chain.

This gene encodes a transmembrane signaling polypeptide which contains an immunoreceptor tyrosine-based activation motif (ITAM) in its cytoplasmic domain. The encoded protein may associate with the killer cell immunoglobulin-like receptor (KIR) family of membrane glycoproteins and may act as an activating signal transduction element. This protein may bind zeta-chain associated protein kinase 70 kDa (ZAP-70) and spleen tyrosine kinase (SYK) and play a role in signal transduction, bone modeling, brain myelination, and inflammation. Mutations within this gene have been associated with polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy (PLOSL), also known as Nasu-Hakola disease. Its putative receptor, triggering receptor expressed on myeloid cells 2 (TREM2), also causes PLOSL. Two alternative transcript variants encoding distinct isoforms have been identified for this gene. Other alternative splice variants have been described, but their full-length nature has not been determined.^[7]

Interactions

TYROBP has been shown to interact with SIRPB1.^[8][9]

Clinical significance

Pathological mutations of the TYROBP gene cause polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1, a condition presenting as early-onset dementia.