TYROBP

TYROBP
Available structures
PDBOrtholog search: PDBe RCSB
Identifiers
AliasesTYROBP, DAP12, KARAP, PLOSL, TYRO protein tyrosine kinase binding protein
External IDsMGI: 1277211 HomoloGene: 7986 GeneCards: TYROBP
Gene location (Human)
Chr.Chromosome 19 (human)[1]
BandNo data availableStart35,904,401 bp[1]
End35,908,295 bp[1]
RNA expression pattern
More reference expression data
Orthologs
SpeciesHumanMouse
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 MbChr 19: 30.41 – 30.42 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

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 (TCR) associated protein kinase 70kDa (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 deterimined.[7]

Interactions

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

References

  1. 1 2 3 GRCh38: Ensembl release 89: ENSG00000011600 - Ensembl, May 2017
  2. 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000030579 - Ensembl, May 2017
  3. ↑ "Human PubMed Reference:".
  4. ↑ "Mouse PubMed Reference:".
  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. PMID 9490415. doi:10.1038/35642.
  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. PMID 10888890. doi:10.1038/77153.
  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. PMID 10604985. doi:10.4049/jimmunol.164.1.9.
  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. PMID 10940905. doi:10.1002/1521-4141(2000)30:8<2147::AID-IMMU2147>3.0.CO;2-1.

Further reading


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