MERTK
From Wikipedia, the free encyclopedia
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C-mer proto-oncogene tyrosine kinase
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| PDB rendering based on 2dbj. | ||||||||||||||
| Available structures: 2dbj, 2p0c | ||||||||||||||
| Identifiers | ||||||||||||||
| Symbol(s) | MERTK; MER; MGC133349; c-mer | |||||||||||||
| External IDs | OMIM: 604705 MGI: 96965 HomoloGene: 4626 | |||||||||||||
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| Orthologs | ||||||||||||||
| Human | Mouse | |||||||||||||
| Entrez | 10461 | 17289 | ||||||||||||
| Ensembl | ENSG00000153208 | ENSMUSG00000014361 | ||||||||||||
| Uniprot | Q12866 | Q8C584 | ||||||||||||
| Refseq | NM_006343 (mRNA) NP_006334 (protein) |
XM_001003774 (mRNA) XP_001003774 (protein) |
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| Location | Chr 2: 112.37 - 112.5 Mb | Chr 2: 128.39 - 128.49 Mb | ||||||||||||
| Pubmed search | [1] | [2] | ||||||||||||
C-mer proto-oncogene tyrosine kinase, also known as MERTK, is a human gene.[1]
This gene is a member of the MER/AXL/TYRO3 receptor kinase family and encodes a transmembrane protein with two fibronectin type-III domains, two Ig-like C2-type (immunoglobulin-like) domains, and one tyrosine kinase domain. Mutations in this gene have been associated with disruption of the retinal pigment epithelium (RPE) phagocytosis pathway and onset of autosomal recessive retinitis pigmentosa (RP).[1]
[edit] References
[edit] Further reading
- Iwase T, Tanaka M, Suzuki M, et al. (1993). "Identification of protein-tyrosine kinase genes preferentially expressed in embryo stomach and gastric cancer.". Biochem. Biophys. Res. Commun. 194 (2): 698–705. doi:. PMID 7688222.
- Graham DK, Dawson TL, Mullaney DL, et al. (1994). "Cloning and mRNA expression analysis of a novel human protooncogene, c-mer.". Cell Growth Differ. 5 (6): 647–57. PMID 8086340.
- Mark MR, Chen J, Hammonds RG, et al. (1996). "Characterization of Gas6, a member of the superfamily of G domain-containing proteins, as a ligand for Rse and Axl.". J. Biol. Chem. 271 (16): 9785–9. PMID 8621659.
- Ling L, Templeton D, Kung HJ (1996). "Identification of the major autophosphorylation sites of Nyk/Mer, an NCAM-related receptor tyrosine kinase.". J. Biol. Chem. 271 (31): 18355–62. PMID 8702477.
- Bonaldo MF, Lennon G, Soares MB (1997). "Normalization and subtraction: two approaches to facilitate gene discovery.". Genome Res. 6 (9): 791–806. PMID 8889548.
- Nagata K, Ohashi K, Nakano T, et al. (1997). "Identification of the product of growth arrest-specific gene 6 as a common ligand for Axl, Sky, and Mer receptor tyrosine kinases.". J. Biol. Chem. 271 (47): 30022–7. PMID 8939948.
- Georgescu MM, Kirsch KH, Shishido T, et al. (1999). "Biological effects of c-Mer receptor tyrosine kinase in hematopoietic cells depend on the Grb2 binding site in the receptor and activation of NF-kappaB.". Mol. Cell. Biol. 19 (2): 1171–81. PMID 9891051.
- Weier HU, Fung J, Lersch RA (1999). "Assignment of protooncogene MERTK (a.k.a. c-mer) to human chromosome 2q14.1 by in situ hybridization.". Cytogenet. Cell Genet. 84 (1-2): 91–2. PMID 10343112.
- Gal A, Li Y, Thompson DA, et al. (2000). "Mutations in MERTK, the human orthologue of the RCS rat retinal dystrophy gene, cause retinitis pigmentosa.". Nat. Genet. 26 (3): 270–1. doi:. PMID 11062461.
- Thompson DA, McHenry CL, Li Y, et al. (2002). "Retinal dystrophy due to paternal isodisomy for chromosome 1 or chromosome 2, with homoallelism for mutations in RPE65 or MERTK, respectively.". Am. J. Hum. Genet. 70 (1): 224–9. PMID 11727200.
- Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. doi:. PMID 12477932.
- Yin JL, Hambly BD, Bao SS, et al. (2004). "Expression of growth arrest-specific gene 6 and its receptors in dysfunctional human renal allografts.". Transpl. Int. 16 (9): 681–8. doi:. PMID 12768229.
- McHenry CL, Liu Y, Feng W, et al. (2004). "MERTK arginine-844-cysteine in a patient with severe rod-cone dystrophy: loss of mutant protein function in transfected cells.". Invest. Ophthalmol. Vis. Sci. 45 (5): 1456–63. PMID 15111602.
- Chen C, Li Q, Darrow AL, et al. (2004). "Mer receptor tyrosine kinase signaling participates in platelet function.". Arterioscler. Thromb. Vasc. Biol. 24 (6): 1118–23. doi:. PMID 15130911.
- Brandenberger R, Wei H, Zhang S, et al. (2005). "Transcriptome characterization elucidates signaling networks that control human ES cell growth and differentiation.". Nat. Biotechnol. 22 (6): 707–16. doi:. PMID 15146197.
- Li Y, Mahajan NP, Webster-Cyriaque J, et al. (2004). "The C-mer gene is induced by Epstein-Barr virus immediate-early protein BRLF1.". J. Virol. 78 (21): 11778–85. doi:. PMID 15479819.
- Gould WR, Baxi SM, Schroeder R, et al. (2005). "Gas6 receptors Axl, Sky and Mer enhance platelet activation and regulate thrombotic responses.". J. Thromb. Haemost. 3 (4): 733–41. doi:. PMID 15733062.
- Liu T, Qian WJ, Gritsenko MA, et al. (2006). "Human plasma N-glycoproteome analysis by immunoaffinity subtraction, hydrazide chemistry, and mass spectrometry.". J. Proteome Res. 4 (6): 2070–80. doi:. PMID 16335952.
- Graham DK, Salzberg DB, Kurtzberg J, et al. (2006). "Ectopic expression of the proto-oncogene Mer in pediatric T-cell acute lymphoblastic leukemia.". Clin. Cancer Res. 12 (9): 2662–9. doi:. PMID 16675557.
- Tada A, Wada Y, Sato H, et al. (2006). "Screening of the MERTK gene for mutations in Japanese patients with autosomal recessive retinitis pigmentosa.". Mol. Vis. 12: 441–4. PMID 16710167.

