MERTK explained

Proto-oncogene tyrosine-protein kinase MER is an enzyme that in humans is encoded by the MERTK gene.^{[1] [2] [3]}

Function

This gene is a member of the TYRO3/AXL/MER (TAM) 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).^[3]

Further reading

• Iwase T, Tanaka M, Suzuki M, Naito Y, Sugimura H, Kino I . Identification of protein-tyrosine kinase genes preferentially expressed in embryo stomach and gastric cancer . Biochemical and Biophysical Research Communications . 194 . 2 . 698–705 . July 1993 . 7688222 . 10.1006/bbrc.1993.1878 . 10271/1029 . 45988423 . free .
• Mark MR, Chen J, Hammonds RG, Sadick M, Godowsk PJ . Characterization of Gas6, a member of the superfamily of G domain-containing proteins, as a ligand for Rse and Axl . The Journal of Biological Chemistry . 271 . 16 . 9785–9 . April 1996 . 8621659 . 10.1074/jbc.271.16.9785 . free .
• Ling L, Templeton D, Kung HJ . Identification of the major autophosphorylation sites of Nyk/Mer, an NCAM-related receptor tyrosine kinase . The Journal of Biological Chemistry . 271 . 31 . 18355–62 . August 1996 . 8702477 . 10.1074/jbc.271.31.18355 . free .
• Bonaldo MF, Lennon G, Soares MB . Normalization and subtraction: two approaches to facilitate gene discovery . Genome Research . 6 . 9 . 791–806 . September 1996 . 8889548 . 10.1101/gr.6.9.791 . free .
• Nagata K, Ohashi K, Nakano T, Arita H, Zong C, Hanafusa H, Mizuno K . Identification of the product of growth arrest-specific gene 6 as a common ligand for Axl, Sky, and Mer receptor tyrosine kinases . The Journal of Biological Chemistry . 271 . 47 . 30022–7 . November 1996 . 8939948 . 10.1074/jbc.271.47.30022 . free .
• Georgescu MM, Kirsch KH, Shishido T, Zong C, Hanafusa H . 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 . Molecular and Cellular Biology . 19 . 2 . 1171–81 . February 1999 . 9891051 . 116046 . 10.1128/mcb.19.2.1171.
• Gal A, Li Y, Thompson DA, Weir J, Orth U, Jacobson SG, Apfelstedt-Sylla E, Vollrath D . Mutations in MERTK, the human orthologue of the RCS rat retinal dystrophy gene, cause retinitis pigmentosa . Nature Genetics . 26 . 3 . 270–1 . November 2000 . 11062461 . 10.1038/81555 . 2812292 .
• Thompson DA, McHenry CL, Li Y, Richards JE, Othman MI, Schwinger E, Vollrath D, Jacobson SG, Gal A . Retinal dystrophy due to paternal isodisomy for chromosome 1 or chromosome 2, with homoallelism for mutations in RPE65 or MERTK, respectively . American Journal of Human Genetics . 70 . 1 . 224–9 . January 2002 . 11727200 . 384890 . 10.1086/338455 .
• Yin JL, Hambly BD, Bao SS, Painter D, Bishop GA, Eris JM . Expression of growth arrest-specific gene 6 and its receptors in dysfunctional human renal allografts . Transplant International . 16 . 9 . 681–8 . September 2003 . 12768229 . 10.1007/s00147-003-0593-3 . 13419387 .
• McHenry CL, Liu Y, Feng W, Nair AR, Feathers KL, Ding X, Gal A, Vollrath D, Sieving PA, Thompson DA . MERTK arginine-844-cysteine in a patient with severe rod-cone dystrophy: loss of mutant protein function in transfected cells . Investigative Ophthalmology & Visual Science . 45 . 5 . 1456–63 . May 2004 . 15111602 . 10.1167/iovs.03-0909 .
• Chen C, Li Q, Darrow AL, Wang Y, Derian CK, Yang J, de Garavilla L, Andrade-Gordon P, Damiano BP . Mer receptor tyrosine kinase signaling participates in platelet function . Arteriosclerosis, Thrombosis, and Vascular Biology . 24 . 6 . 1118–23 . June 2004 . 15130911 . 10.1161/01.ATV.0000130662.30537.08 . free .
• Brandenberger R, Wei H, Zhang S, Lei S, Murage J, Fisk GJ, Li Y, Xu C, Fang R, Guegler K, Rao MS, Mandalam R, Lebkowski J, Stanton LW . Transcriptome characterization elucidates signaling networks that control human ES cell growth and differentiation . Nature Biotechnology . 22 . 6 . 707–16 . June 2004 . 15146197 . 10.1038/nbt971 . 27764390 .
• Li Y, Mahajan NP, Webster-Cyriaque J, Bhende P, Hong GK, Earp HS, Kenney S . The C-mer gene is induced by Epstein-Barr virus immediate-early protein BRLF1 . Journal of Virology . 78 . 21 . 11778–85 . November 2004 . 15479819 . 523243 . 10.1128/JVI.78.21.11778-11785.2004 .
• Gould WR, Baxi SM, Schroeder R, Peng YW, Leadley RJ, Peterson JT, Perrin LA . Gas6 receptors Axl, Sky and Mer enhance platelet activation and regulate thrombotic responses . Journal of Thrombosis and Haemostasis . 3 . 4 . 733–41 . April 2005 . 15733062 . 10.1111/j.1538-7836.2005.01186.x . 20373626 .
• Liu T, Qian WJ, Gritsenko MA, Camp DG, Monroe ME, Moore RJ, Smith RD . Human plasma N-glycoproteome analysis by immunoaffinity subtraction, hydrazide chemistry, and mass spectrometry . Journal of Proteome Research . 4 . 6 . 2070–80 . 2006 . 16335952 . 1850943 . 10.1021/pr0502065 .
• Graham DK, Salzberg DB, Kurtzberg J, Sather S, Matsushima GK, Keating AK, Liang X, Lovell MA, Williams SA, Dawson TL, Schell MJ, Anwar AA, Snodgrass HR, Earp HS . Ectopic expression of the proto-oncogene Mer in pediatric T-cell acute lymphoblastic leukemia . Clinical Cancer Research . 12 . 9 . 2662–9 . May 2006 . 16675557 . 10.1158/1078-0432.CCR-05-2208 . free .
• Tada A, Wada Y, Sato H, Itabashi T, Kawamura M, Tamai M, Nishida K . Screening of the MERTK gene for mutations in Japanese patients with autosomal recessive retinitis pigmentosa . Molecular Vision . 12 . 441–4 . May 2006 . 16710167 .

External links

• GeneReviews/NCBI/NIH/UW entry on Retinitis Pigmentosa Overview

Notes and References

1. Graham DK, Dawson TL, Mullaney DL, Snodgrass HR, Earp HS . Cloning and mRNA expression analysis of a novel human protooncogene, c-mer . Cell Growth & Differentiation . 5 . 6 . 647–57 . June 1994 . 8086340 .
2. Weier HU, Fung J, Lersch RA . Assignment of protooncogene MERTK (a.k.a. c-mer) to human chromosome 2q14.1 by in situ hybridization . Cytogenetics and Cell Genetics . 84 . 1–2 . 91–2 . Jun 1999 . 10343112 . 10.1159/000015223 . 43714175 .
3. Web site: Entrez Gene: MERTK c-mer proto-oncogene tyrosine kinase.