TYROBP

From Wikipedia, the free encyclopedia

TYRO protein tyrosine kinase binding protein

Identifiers

TYROBP; DAP12; KARAP; PLOSL

External IDs

OMIM: 604142 MGI: 1277211 HomoloGene: 7986

Gene ontology
Molecular Function:	• receptor signaling protein activity • protein binding
Cellular Component:	• integral to plasma membrane • membrane
Biological Process:	• cellular defense response • intracellular signaling cascade

RNA expression pattern

More reference expression data

Orthologs

Human

Mouse

Refseq

NM_003332 (mRNA)
NP_003323 (protein)

NM_011662 (mRNA)
NP_035792 (protein)

Location

Chr 19: 41.09 - 41.09 Mb

Chr 7: 30.12 - 30.13 Mb

Pubmed search

[1]

[2]

TYRO protein tyrosine kinase binding protein, also known as TYROBP, is a human gene.

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 inhibitory 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.^[1]

[edit] References

^ Entrez Gene: TYROBP TYRO protein tyrosine kinase binding protein.

[edit] Further reading

Colonna M (2003). "DAP12 signaling: from immune cells to bone modeling and brain myelination.". J. Clin. Invest. 111 (3): 313–4. PMID 12569153.
Takaki R, Watson SR, Lanier LL (2007). "DAP12: an adapter protein with dual functionality.". Immunol. Rev. 214: 118–29. doi:10.1111/j.1600-065X.2006.00466.x. PMID 17100880.
Bonaldo MF, Lennon G, Soares MB (1997). "Normalization and subtraction: two approaches to facilitate gene discovery.". Genome Res. 6 (9): 791–806. PMID 8889548.
Pekkarinen P, Hovatta I, Hakola P, et al. (1998). "Assignment of the locus for PLO-SL, a frontal-lobe dementia with bone cysts, to 19q13.". Am. J. Hum. Genet. 62 (2): 362–72. PMID 9463329.
Lanier LL, Corliss BC, Wu J, et al. (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.
Lanier LL, Corliss B, Wu J, Phillips JH (1998). "Association of DAP12 with activating CD94/NKG2C NK cell receptors.". Immunity 8 (6): 693–701. PMID 9655483.
Pekkarinen P, Kestilä M, Paloneva J, et al. (1999). "Fine-scale mapping of a novel dementia gene, PLOSL, by linkage disequilibrium.". Genomics 54 (2): 307–15. PMID 9828133.
Cantoni C, Bottino C, Vitale M, et al. (1999). "NKp44, a triggering receptor involved in tumor cell lysis by activated human natural killer cells, is a novel member of the immunoglobulin superfamily.". J. Exp. Med. 189 (5): 787–96. PMID 10049942.
Bellón T, Heredia AB, Llano M, et al. (1999). "Triggering of effector functions on a CD8+ T cell clone upon the aggregation of an activatory CD94/kp39 heterodimer.". J. Immunol. 162 (7): 3996–4002. PMID 10201920.
Bakker AB, Baker E, Sutherland GR, et al. (1999). "Myeloid DAP12-associating lectin (MDL)-1 is a cell surface receptor involved in the activation of myeloid cells.". Proc. Natl. Acad. Sci. U.S.A. 96 (17): 9792–6. PMID 10449773.
Dietrich J, Cella M, Seiffert M, et al. (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.
Bouchon A, Dietrich J, Colonna M (2000). "Cutting edge: inflammatory responses can be triggered by TREM-1, a novel receptor expressed on neutrophils and monocytes.". J. Immunol. 164 (10): 4991–5. PMID 10799849.
Paloneva J, Kestilä M, Wu J, et al. (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.
Tomasello E, Cant C, Bühring HJ, et al. (2000). "Association of signal-regulatory proteins beta with KARAP/DAP-12.". Eur. J. Immunol. 30 (8): 2147–56. PMID 10940905.
Bottino C, Falco M, Sivori S, et al. (2001). "Identification and molecular characterization of a natural mutant of the p50.2/KIR2DS2 activating NK receptor that fails to mediate NK cell triggering.". Eur. J. Immunol. 30 (12): 3569–74. PMID 11169398.
Gingras MC, Lapillonne H, Margolin JF (2002). "TREM-1, MDL-1, and DAP12 expression is associated with a mature stage of myeloid development.". Mol. Immunol. 38 (11): 817–24. PMID 11922939.
Paloneva J, Manninen T, Christman G, et al. (2002). "Mutations in two genes encoding different subunits of a receptor signaling complex result in an identical disease phenotype.". Am. J. Hum. Genet. 71 (3): 656–62. PMID 12080485.
Lucas M, Daniel L, Tomasello E, et al. (2002). "Massive inflammatory syndrome and lymphocytic immunodeficiency in KARAP/DAP12-transgenic mice.". Eur. J. Immunol. 32 (9): 2653–63. doi:10.1002/1521-4141(200209)32:9<2653::AID-IMMU2653>3.0.CO;2-V. PMID 12207350.
Kondo T, Takahashi K, Kohara N, et al. (2002). "Heterogeneity of presenile dementia with bone cysts (Nasu-Hakola disease): three genetic forms.". Neurology 59 (7): 1105–7. PMID 12370476.
Gilfillan S, Ho EL, Cella M, et al. (2002). "NKG2D recruits two distinct adapters to trigger NK cell activation and costimulation.". Nat. Immunol. 3 (12): 1150–5. doi:10.1038/ni857. PMID 12426564.