TYROBP: Difference between revisions

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{{Infobox_gene}}
{{Infobox_gene}}
'''TYRO protein tyrosine kinase-binding protein''' is an adapter protein that in humans is encoded by the ''TYROBP'' [[gene]].<ref name="pmid9490415">{{cite journal | vauthors = Lanier LL, Corliss BC, Wu J, Leong C, Phillips JH | title = Immunoreceptor DAP12 bearing a tyrosine-based activation motif is involved in activating NK cells | journal = Nature | volume = 391 | issue = 6668 | pages = 703–7 | date = March 1998 | pmid = 9490415 | pmc =  | doi = 10.1038/35642 }}</ref><ref name="pmid10888890">{{cite journal | vauthors = 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 | title = Loss-of-function mutations in TYROBP (DAP12) result in a presenile dementia with bone cysts | journal = Nat Genet | volume = 25 | issue = 3 | pages = 357–61 | date = August 2000 | pmid = 10888890 | pmc =  | doi = 10.1038/77153 }}</ref>
'''TYRO [[protein tyrosine kinase]]-binding protein''' is an adapter protein that in humans is encoded by the ''TYROBP'' [[gene]].<ref name="pmid9490415">{{cite journal | vauthors = Lanier LL, Corliss BC, Wu J, Leong C, Phillips JH | title = Immunoreceptor DAP12 bearing a tyrosine-based activation motif is involved in activating NK cells | journal = Nature | volume = 391 | issue = 6668 | pages = 703–7 | date = March 1998 | pmid = 9490415 | pmc =  | doi = 10.1038/35642 }}</ref><ref name="pmid10888890">{{cite journal | vauthors = 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 | title = Loss-of-function mutations in TYROBP (DAP12) result in a presenile dementia with bone cysts | journal = Nat Genet | volume = 25 | issue = 3 | pages = 357–61 | date = August 2000 | pmid = 10888890 | pmc =  | doi = 10.1038/77153 }}</ref>


== Function ==
== 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.<ref name="entrez">{{cite web | title = Entrez Gene: TYROBP TYRO protein tyrosine kinase binding protein| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=7305| accessdate = }}</ref>
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 determined.<ref name="entrez">{{cite web | title = Entrez Gene: TYROBP TYRO protein tyrosine kinase binding protein| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=7305| accessdate = }}</ref>


== Interactions ==
== Interactions ==
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* {{cite journal | vauthors = Lucas M, Daniel L, Tomasello E, Guia S, Horschowski N, Aoki N, Figarella-Branger D, Gomez S, Vivier E | title = Massive inflammatory syndrome and lymphocytic immunodeficiency in KARAP/DAP12-transgenic mice | journal = Eur. J. Immunol. | volume = 32 | issue = 9 | pages = 2653–63 | year = 2002 | pmid = 12207350 | doi = 10.1002/1521-4141(200209)32:9<2653::AID-IMMU2653>3.0.CO;2-V }}
* {{cite journal | vauthors = Lucas M, Daniel L, Tomasello E, Guia S, Horschowski N, Aoki N, Figarella-Branger D, Gomez S, Vivier E | title = Massive inflammatory syndrome and lymphocytic immunodeficiency in KARAP/DAP12-transgenic mice | journal = Eur. J. Immunol. | volume = 32 | issue = 9 | pages = 2653–63 | year = 2002 | pmid = 12207350 | doi = 10.1002/1521-4141(200209)32:9<2653::AID-IMMU2653>3.0.CO;2-V }}
* {{cite journal | vauthors = Kondo T, Takahashi K, Kohara N, Takahashi Y, Hayashi S, Takahashi H, Matsuo H, Yamazaki M, Inoue K, Miyamoto K, Yamamura T | title = Heterogeneity of presenile dementia with bone cysts (Nasu-Hakola disease): three genetic forms | journal = Neurology | volume = 59 | issue = 7 | pages = 1105–7 | year = 2002 | pmid = 12370476 | doi = 10.1212/wnl.59.7.1105 }}
* {{cite journal | vauthors = Kondo T, Takahashi K, Kohara N, Takahashi Y, Hayashi S, Takahashi H, Matsuo H, Yamazaki M, Inoue K, Miyamoto K, Yamamura T | title = Heterogeneity of presenile dementia with bone cysts (Nasu-Hakola disease): three genetic forms | journal = Neurology | volume = 59 | issue = 7 | pages = 1105–7 | year = 2002 | pmid = 12370476 | doi = 10.1212/wnl.59.7.1105 }}
* {{cite journal | vauthors = Gilfillan S, Ho EL, Cella M, Yokoyama WM, Colonna M | title = NKG2D recruits two distinct adapters to trigger NK cell activation and costimulation | journal = Nat. Immunol. | volume = 3 | issue = 12 | pages = 1150–5 | year = 2002 | pmid = 12426564 | doi = 10.1038/ni857 }}
* {{cite journal | vauthors = Gilfillan S, Ho EL, Cella M, Yokoyama WM, Colonna M | title = NKG2D recruits two distinct adapters to trigger NK cell activation and costimulation | journal = Nat. Immunol. | volume = 3 | issue = 12 | pages = 1150–5 | year = 2002 | pmid = 12426564 | doi = 10.1038/ni857 | url = https://zenodo.org/record/1059076/files/article.pdf }}
{{Refend}}
{{Refend}}




{{gene-19-stub}}
{{gene-19-stub}}

Latest revision as of 13:45, 20 August 2018

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Identifiers
Aliases
External IDsGeneCards: [1]
Orthologs
SpeciesHumanMouse
Entrez

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Ensembl

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UniProt

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RefSeq (mRNA)

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RefSeq (protein)

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Location (UCSC)n/an/a
PubMed searchn/an/a
Wikidata
View/Edit Human

TYRO protein tyrosine kinase-binding protein is an adapter protein that in humans is encoded by the TYROBP gene.[1][2]

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 determined.[3]

Interactions

TYROBP has been shown to interact with SIRPB1.[4][5]

References

  1. ↑ 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. doi:10.1038/35642. PMID 9490415.
  2. ↑ 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.
  3. ↑ "Entrez Gene: TYROBP TYRO protein tyrosine kinase binding protein".
  4. ↑ 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.
  5. ↑ 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.

External links

Further reading


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