TMEM43
| Transmembrane protein 43 | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Identifiers | |||||||||||||
| Symbols | TMEM43 ; ARVC5; ARVD5; EDMD7; LUMA | ||||||||||||
| External IDs | OMIM: 612048 MGI: 1921372 HomoloGene: 11532 GeneCards: TMEM43 Gene | ||||||||||||
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| RNA expression pattern | |||||||||||||
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| More reference expression data | |||||||||||||
| Orthologs | |||||||||||||
| Species | Human | Mouse | |||||||||||
| Entrez | 79188 | 74122 | |||||||||||
| Ensembl | ENSG00000170876 | ENSMUSG00000030095 | |||||||||||
| UniProt | Q9BTV4 | Q9DBS1 | |||||||||||
| RefSeq (mRNA) | NM_024334 | NM_028766 | |||||||||||
| RefSeq (protein) | NP_077310 | NP_083042 | |||||||||||
| Location (UCSC) |
Chr 3: 14.12 – 14.14 Mb |
Chr 6: 91.47 – 91.49 Mb | |||||||||||
| PubMed search | |||||||||||||
Transmembrane protein 43 (also called luma) is a protein that in humans is encoded by the TMEM43 gene.[1][2] TMEM43 may have an important role in maintaining nuclear envelope structure by organizing protein complexes at the inner nuclear membrane. Required for retaining emerin at the inner nuclear membrane. However, the localization of TMEM43 in myocardial tissue is controversial discussed. Franke et al. demonstrated that TMEM43 is localized at the intercalated disc but not at the nuclear envelope.[3] In contrast Christensen et al. have shown that TMEM43 is mainly localized at the sarcolemma.[4] Mutations in TMEM43 are associated with ARVD.[5][6][7][8]
References
- ↑ Wiemann S, Weil B, Wellenreuther R, et al. (March 2001). "Toward a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs". Genome Research 11 (3): 422–35. doi:10.1101/gr.GR1547R. PMC 311072. PMID 11230166.
- ↑ EntrezGene 79188
- ↑ Franke WW, Dörflinger Y, Kuhn C, et al. (July 2014). "Protein LUMA is a cytoplasmic plaque constituent of various epithelial adherens junctions and composite junctions of myocardial intercalated disks: a unifying finding for cell biology and cardiology". Cell and Tissue Research 357 (1): 159–72. doi:10.1007/s00441-014-1865-1. PMID 24770932.
- ↑ Christensen AH, Andersen CB, Tybjaerg-Hansen A, Haunso S, Svendsen JH (September 2011). "Mutation analysis and evaluation of the cardiac localization of TMEM43 in arrhythmogenic right ventricular cardiomyopathy". Clinical Genetics 80 (3): 256–64. doi:10.1111/j.1399-0004.2011.01623.x. PMID 21214875.
- ↑ Merner ND, Hodgkinson KA, Haywood AF, et al. (April 2008). "Arrhythmogenic right ventricular cardiomyopathy type 5 is a fully penetrant, lethal arrhythmic disorder caused by a missense mutation in the TMEM43 gene". American Journal of Human Genetics 82 (4): 809–21. doi:10.1016/j.ajhg.2008.01.010. PMC 2427209. PMID 18313022.
- ↑ Christensen AH, Andersen CB, Tybjaerg-Hansen A, Haunso S, Svendsen JH (September 2011). "Mutation analysis and evaluation of the cardiac localization of TMEM43 in arrhythmogenic right ventricular cardiomyopathy". Clinical Genetics 80 (3): 256–64. doi:10.1111/j.1399-0004.2011.01623.x. PMID 21214875.
- ↑ Haywood AF, Merner ND, Hodgkinson KA, et al. (April 2013). "Recurrent missense mutations in TMEM43 (ARVD5) due to founder effects cause arrhythmogenic cardiomyopathies in the UK and Canada". European Heart Journal 34 (13): 1002–11. doi:10.1093/eurheartj/ehs383. PMID 23161701.
- ↑ Baskin B, Skinner JR, Sanatani S, et al. (November 2013). "TMEM43 mutations associated with arrhythmogenic right ventricular cardiomyopathy in non-Newfoundland populations". Human Genetics 132 (11): 1245–52. doi:10.1007/s00439-013-1323-2. PMID 23812740.
Further reading
- Maruyama K, Sugano S (January 1994). "Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides". Gene 138 (1-2): 171–4. doi:10.1016/0378-1119(94)90802-8. PMID 8125298.
- Suzuki Y, Yoshitomo-Nakagawa K, Maruyama K, Suyama A, Sugano S (October 1997). "Construction and characterization of a full length-enriched and a 5'-end-enriched cDNA library". Gene 200 (1-2): 149–56. doi:10.1016/S0378-1119(97)00411-3. PMID 9373149.
- Hartley JL, Temple GF, Brasch MA (November 2000). "DNA cloning using in vitro site-specific recombination". Genome Research 10 (11): 1788–95. doi:10.1101/gr.143000. PMC 310948. PMID 11076863.
- Simpson JC, Wellenreuther R, Poustka A, Pepperkok R, Wiemann S (September 2000). "Systematic subcellular localization of novel proteins identified by large-scale cDNA sequencing". EMBO Reports 1 (3): 287–92. doi:10.1093/embo-reports/kvd058. PMC 1083732. PMID 11256614.
- Strausberg RL, Feingold EA, Grouse LH, et al. (December 2002). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proceedings of the National Academy of Sciences of the United States of America 99 (26): 16899–903. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
- Clark HF, Gurney AL, Abaya E, et al. (October 2003). "The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment". Genome Research 13 (10): 2265–70. doi:10.1101/gr.1293003. PMC 403697. PMID 12975309.
- Ota T, Suzuki Y, Nishikawa T, et al. (January 2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs". Nature Genetics 36 (1): 40–5. doi:10.1038/ng1285. PMID 14702039.
- Wiemann S, Arlt D, Huber W, et al. (October 2004). "From ORFeome to biology: a functional genomics pipeline". Genome Research 14 (10B): 2136–44. doi:10.1101/gr.2576704. PMC 528930. PMID 15489336.
- Otsuki T, Ota T, Nishikawa T, et al. (2005). "Signal sequence and keyword trap in silico for selection of full-length human cDNAs encoding secretion or membrane proteins from oligo-capped cDNA libraries". DNA Research 12 (2): 117–26. doi:10.1093/dnares/12.2.117. PMID 16303743.
- Mehrle A, Rosenfelder H, Schupp I, et al. (January 2006). "The LIFEdb database in 2006". Nucleic Acids Research 34 (Database issue): D415–8. doi:10.1093/nar/gkj139. PMC 1347501. PMID 16381901.
External links
- GeneReviews/NCBI/NIH/UW entry on Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy, Autosomal Dominant
- OMIM entries on Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy, Autosomal Dominant
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