PDCD10
{{Short description|Protein-coding gene in the species Homo sapiens}}
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{{Infobox_gene}}
Programmed cell death protein 10 is a protein that in humans is encoded by the PDCD10 gene.{{cite journal | vauthors = Bergametti F, Denier C, Labauge P, Arnoult M, Boetto S, Clanet M, Coubes P, Echenne B, Ibrahim R, Irthum B, Jacquet G, Lonjon M, Moreau JJ, Neau JP, Parker F, Tremoulet M, Tournier-Lasserve E | title = Mutations within the programmed cell death 10 gene cause cerebral cavernous malformations | journal = American Journal of Human Genetics | volume = 76 | issue = 1 | pages = 42–51 | date = Jan 2005 | pmid = 15543491 | pmc = 1196432 | doi = 10.1086/426952 }}{{Cite web| title = Entrez Gene: PDCD10 programmed cell death 10| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=11235}}
Function
This gene encodes a protein, originally identified in a premyeloid cell line, with similarity to proteins that participate in apoptosis. Three alternative transcripts encoding the same protein, differing only in their 5' UTRs, have been identified for this gene.
Gene
Interactions
CCM3 encodes a protein called Programmed Cell Death 10 (PDCD10). The function of this protein has only recently begun to be understood. PDCD10 has roles in vascular development and VEGF signaling1,{{cite journal | vauthors = He Y, Zhang H, Yu L, Gunel M, Boggon TJ, Chen H, Min W | title = Stabilization of VEGFR2 signaling by cerebral cavernous malformation 3 is critical for vascular development | journal = Science Signaling | volume = 3 | issue = 116 | pages = ra26 | year = 2010 | pmid = 20371769 | pmc = 3052863 | doi = 10.1126/scisignal.2000722 }} apoptosis{{cite journal | vauthors = Guclu B, Ozturk AK, Pricola KL, Bilguvar K, Shin D, O'Roak BJ, Gunel M | title = Mutations in apoptosis-related gene, PDCD10, cause cerebral cavernous malformation 3 | journal = Neurosurgery | volume = 57 | issue = 5 | pages = 1008–13 | date = Nov 2005 | pmid = 16284570 | doi = 10.1227/01.NEU.0000180811.56157.E1 | s2cid = 10303325 }} and functions as part of a larger signaling complex that includes germinal center kinase III.{{cite journal | vauthors = Fidalgo M, Fraile M, Pires A, Force T, Pombo C, Zalvide J | title = CCM3/PDCD10 stabilizes GCKIII proteins to promote Golgi assembly and cell orientation | journal = Journal of Cell Science | volume = 123 | issue = Pt 8 | pages = 1274–84 | date = Apr 2010 | pmid = 20332113 | doi = 10.1242/jcs.061341 | doi-access = | s2cid = 6692474 }}{{cite journal | vauthors = Ceccarelli DF, Laister RC, Mulligan VK, Kean MJ, Goudreault M, Scott IC, Derry WB, Chakrabartty A, Gingras AC, Sicheri F | title = CCM3/PDCD10 heterodimerizes with germinal center kinase III (GCKIII) proteins using a mechanism analogous to CCM3 homodimerization | journal = The Journal of Biological Chemistry | volume = 286 | issue = 28 | pages = 25056–64 | date = Jul 2011 | pmid = 21561863 | pmc = 3137079 | doi = 10.1074/jbc.M110.213777 | doi-access = free }} Specifically, PDCD10 has been shown to interact with RP6-213H19.1,{{cite journal | vauthors = Goudreault M, D'Ambrosio LM, Kean MJ, Mullin MJ, Larsen BG, Sanchez A, Chaudhry S, Chen GI, Sicheri F, Nesvizhskii AI, Aebersold R, Raught B, Gingras AC | title = A PP2A phosphatase high density interaction network identifies a novel striatin-interacting phosphatase and kinase complex linked to the cerebral cavernous malformation 3 (CCM3) protein | journal = Molecular & Cellular Proteomics | volume = 8 | issue = 1 | pages = 157–71 | date = Jan 2009 | pmid = 18782753 | pmc = 2621004 | doi = 10.1074/mcp.M800266-MCP200 | doi-access = free }} STK25,{{cite journal | vauthors = Rual JF, Venkatesan K, Hao T, Hirozane-Kishikawa T, Dricot A, Li N, Berriz GF, Gibbons FD, Dreze M, Ayivi-Guedehoussou N, Klitgord N, Simon C, Boxem M, Milstein S, Rosenberg J, Goldberg DS, Zhang LV, Wong SL, Franklin G, Li S, Albala JS, Lim J, Fraughton C, Llamosas E, Cevik S, Bex C, Lamesch P, Sikorski RS, Vandenhaute J, Zoghbi HY, Smolyar A, Bosak S, Sequerra R, Doucette-Stamm L, Cusick ME, Hill DE, Roth FP, Vidal M | title = Towards a proteome-scale map of the human protein-protein interaction network | journal = Nature | volume = 437 | issue = 7062 | pages = 1173–8 | date = Oct 2005 | pmid = 16189514 | doi = 10.1038/nature04209 | bibcode = 2005Natur.437.1173R | s2cid = 4427026 }} STRN, STRN3, MOBKL3, CTTNBP2NL, STK24{{cite journal | vauthors = Ewing RM, Chu P, Elisma F, Li H, Taylor P, Climie S, McBroom-Cerajewski L, Robinson MD, O'Connor L, Li M, Taylor R, Dharsee M, Ho Y, Heilbut A, Moore L, Zhang S, Ornatsky O, Bukhman YV, Ethier M, Sheng Y, Vasilescu J, Abu-Farha M, Lambert JP, Duewel HS, Stewart II, Kuehl B, Hogue K, Colwill K, Gladwish K, Muskat B, Kinach R, Adams SL, Moran MF, Morin GB, Topaloglou T, Figeys D | title = Large-scale mapping of human protein-protein interactions by mass spectrometry | journal = Molecular Systems Biology | volume = 3 | issue = 1 | pages = 89 | year = 2007 | pmid = 17353931 | pmc = 1847948 | doi = 10.1038/msb4100134 }} and FAM40A.
References
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Further reading
{{Refbegin|33em}}
- {{cite journal | vauthors = Craig HD, Günel M, Cepeda O, Johnson EW, Ptacek L, Steinberg GK, Ogilvy CS, Berg MJ, Crawford SC, Scott RM, Steichen-Gersdorf E, Sabroe R, Kennedy CT, Mettler G, Beis MJ, Fryer A, Awad IA, Lifton RP | title = Multilocus linkage identifies two new loci for a mendelian form of stroke, cerebral cavernous malformation, at 7p15-13 and 3q25.2-27 | journal = Human Molecular Genetics | volume = 7 | issue = 12 | pages = 1851–8 | date = Nov 1998 | pmid = 9811928 | doi = 10.1093/hmg/7.12.1851 | doi-access = free }}
- {{cite journal | vauthors = Guclu B, Ozturk AK, Pricola KL, Seker A, Ozek M, Gunel M | title = Cerebral venous malformations have distinct genetic origin from cerebral cavernous malformations | journal = Stroke: A Journal of Cerebral Circulation | volume = 36 | issue = 11 | pages = 2479–80 | date = Nov 2005 | pmid = 16239636 | doi = 10.1161/01.STR.0000183616.99139.d3 | doi-access = free | hdl = 11424/244289 | hdl-access = free }}
- {{cite journal | vauthors = Guclu B, Ozturk AK, Pricola KL, Bilguvar K, Shin D, O'Roak BJ, Gunel M | title = Mutations in apoptosis-related gene, PDCD10, cause cerebral cavernous malformation 3 | journal = Neurosurgery | volume = 57 | issue = 5 | pages = 1008–13 | date = Nov 2005 | pmid = 16284570 | doi = 10.1227/01.NEU.0000180811.56157.E1 | s2cid = 10303325 }}
- {{cite journal | vauthors = Liquori CL, Berg MJ, Squitieri F, Ottenbacher M, Sorlie M, Leedom TP, Cannella M, Maglione V, Ptacek L, Johnson EW, Marchuk DA | title = Low frequency of PDCD10 mutations in a panel of CCM3 probands: potential for a fourth CCM locus | journal = Human Mutation | volume = 27 | issue = 1 | pages = 118 | date = Jan 2006 | pmid = 16329096 | doi = 10.1002/humu.9389 | s2cid = 30609244 | doi-access = free }}
- {{cite journal | vauthors = Verlaan DJ, Roussel J, Laurent SB, Elger CE, Siegel AM, Rouleau GA | title = CCM3 mutations are uncommon in cerebral cavernous malformations | journal = Neurology | volume = 65 | issue = 12 | pages = 1982–3 | date = Dec 2005 | pmid = 16380626 | doi = 10.1212/01.wnl.0000188903.75144.49 | s2cid = 190798 }}
- {{cite journal | vauthors = Tsang HT, Connell JW, Brown SE, Thompson A, Reid E, Sanderson CM | title = A systematic analysis of human CHMP protein interactions: additional MIT domain-containing proteins bind to multiple components of the human ESCRT III complex | journal = Genomics | volume = 88 | issue = 3 | pages = 333–46 | date = Sep 2006 | pmid = 16730941 | doi = 10.1016/j.ygeno.2006.04.003 | doi-access = }}
- {{cite journal | vauthors = Labauge P, Krivosic V, Denier C, Tournier-Lasserve E, Gaudric A | title = Frequency of retinal cavernomas in 60 patients with familial cerebral cavernomas: a clinical and genetic study | journal = Archives of Ophthalmology | volume = 124 | issue = 6 | pages = 885–6 | date = Jun 2006 | pmid = 16769843 | doi = 10.1001/archopht.124.6.885 | doi-access = free }}
- {{cite journal | vauthors = Chen PY, Chang WS, Chou RH, Lai YK, Lin SC, Chi CY, Wu CW | title = Two non-homologous brain diseases-related genes, SERPINI1 and PDCD10, are tightly linked by an asymmetric bidirectional promoter in an evolutionarily conserved manner | journal = BMC Molecular Biology | volume = 8 | pages = 2 | year = 2007 | pmid = 17212813 | pmc = 1796892 | doi = 10.1186/1471-2199-8-2 | doi-access = free }}
- {{cite journal | vauthors = Ewing RM, Chu P, Elisma F, Li H, Taylor P, Climie S, McBroom-Cerajewski L, Robinson MD, O'Connor L, Li M, Taylor R, Dharsee M, Ho Y, Heilbut A, Moore L, Zhang S, Ornatsky O, Bukhman YV, Ethier M, Sheng Y, Vasilescu J, Abu-Farha M, Lambert JP, Duewel HS, Stewart II, Kuehl B, Hogue K, Colwill K, Gladwish K, Muskat B, Kinach R, Adams SL, Moran MF, Morin GB, Topaloglou T, Figeys D | title = Large-scale mapping of human protein-protein interactions by mass spectrometry | journal = Molecular Systems Biology | volume = 3 | issue = 1 | pages = 89 | year = 2007 | pmid = 17353931 | pmc = 1847948 | doi = 10.1038/msb4100134 }}
- {{cite journal | vauthors = Ma X, Zhao H, Shan J, Long F, Chen Y, Chen Y, Zhang Y, Han X, Ma D | title = PDCD10 interacts with Ste20-related kinase MST4 to promote cell growth and transformation via modulation of the ERK pathway | journal = Molecular Biology of the Cell | volume = 18 | issue = 6 | pages = 1965–78 | date = Jun 2007 | pmid = 17360971 | pmc = 1877091 | doi = 10.1091/mbc.E06-07-0608 }}
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External links
- [http://www.angioma.org www.angioma.org Angioma Alliance]
- [http://www.ccm3.org www.ccm3.org CCM3 Action] {{Webarchive|url=https://web.archive.org/web/20211109113510/http://www.ccm3.org/ |date=2021-11-09 }}