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TYROBP

From Wikipedia, the free encyclopedia

TYROBP
Available structures
PDBOrtholog search: PDBe RCSB
Identifiers
AliasesTYROBP, DAP12, KARAP, PLOSL, TYRO protein tyrosine kinase binding protein, PLOSL1, transmembrane immune signaling adaptor TYROBP
External IDsOMIM: 604142; MGI: 1277211; HomoloGene: 7986; GeneCards: TYROBP; OMA:TYROBP - orthologs
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
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 MbChr 7: 30.11 – 30.12 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

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

Function

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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

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

Clinical significance

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

References

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  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000011600Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000030579Ensembl, May 2017
  3. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ^ Lanier LL, Corliss BC, Wu J, Leong C, Phillips JH (March 1998). "Immunoreceptor DAP12 bearing a tyrosine-based activation motif is involved in activating NK cells". Nature. 391 (6668): 703–7. Bibcode:1998Natur.391..703L. doi:10.1038/35642. PMID 9490415. S2CID 4324672.
  6. ^ Paloneva J, Kestilä M, Wu J, Salminen A, Böhling T, Ruotsalainen V, Hakola P, Bakker AB, Phillips JH, Pekkarinen P, Lanier LL, Timonen T, Peltonen L (August 2000). "Loss-of-function mutations in TYROBP (DAP12) result in a presenile dementia with bone cysts". Nat Genet. 25 (3): 357–61. doi:10.1038/77153. PMID 10888890. S2CID 9243117.
  7. ^ "Entrez Gene: TYROBP TYRO protein tyrosine kinase binding protein".
  8. ^ Dietrich J, Cella M, Seiffert M, Bühring HJ, Colonna M (January 2000). "Cutting edge: signal-regulatory protein beta 1 is a DAP12-associated activating receptor expressed in myeloid cells". J. Immunol. 164 (1): 9–12. doi:10.4049/jimmunol.164.1.9. PMID 10604985.
  9. ^ Tomasello E, Cant C, Bühring HJ, Vély F, André P, Seiffert M, Ullrich A, Vivier E (August 2000). "Association of signal-regulatory proteins beta with KARAP/DAP-12". Eur. J. Immunol. 30 (8): 2147–56. doi:10.1002/1521-4141(2000)30:8<2147::AID-IMMU2147>3.0.CO;2-1. PMID 10940905. S2CID 84258013.
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Further reading

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