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<!-- The PBB_Controls template provides controls for Protein Box Bot, please see Template:PBB_Controls for details. -->
{{Infobox_gene}}
{{PBB_Controls
'''Programmed cell death protein 10''' is a [[protein]] that in humans is encoded by the ''PDCD10'' [[gene]].<ref name="pmid15543491">{{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 }}</ref><ref name="entrez">{{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| accessdate = }}</ref>
| update_page = yes
| require_manual_inspection = no
| update_protein_box = yes
| update_summary = yes
| update_citations = yes
}}


<!-- The GNF_Protein_box is automatically maintained by Protein Box Bot.  See Template:PBB_Controls to Stop updates. -->
== Function ==
{{GNF_Protein_box
| image =
| image_source =
| PDB =
| Name = Programmed cell death 10
| HGNCid = 8761
| Symbol = PDCD10
| AltSymbols =; CCM3; MGC1212; MGC24477; TFAR15
| OMIM = 609118
| ECnumber = 
| Homologene = 10505
| MGIid = 1928396
| GeneAtlas_image1 = PBB_GE_PDCD10_210907_s_at_tn.png
| Function =  
| Component =
| Process = {{GNF_GO|id=GO:0006915 |text = apoptosis}}
| Orthologs = {{GNF_Ortholog_box
    | Hs_EntrezGene = 11235
    | Hs_Ensembl = ENSG00000114209
    | Hs_RefseqProtein = NP_009148
    | Hs_RefseqmRNA = NM_007217
    | Hs_GenLoc_db = 
    | Hs_GenLoc_chr = 3
    | Hs_GenLoc_start = 168884391
    | Hs_GenLoc_end = 168935345
    | Hs_Uniprot = Q9BUL8
    | Mm_EntrezGene = 56426
    | Mm_Ensembl = ENSMUSG00000027835
    | Mm_RefseqmRNA = NM_019745
    | Mm_RefseqProtein = NP_062719
    | Mm_GenLoc_db = 
    | Mm_GenLoc_chr = 3
    | Mm_GenLoc_start = 75602416
    | Mm_GenLoc_end = 75642726
    | Mm_Uniprot = Q3TVB4
  }}
}}
'''Programmed cell death 10''', also known as '''PDCD10''', is a human [[gene]].<ref name="entrez">{{cite web | title = Entrez Gene: PDCD10 programmed cell death 10| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=11235| accessdate = }}</ref>


<!-- The PBB_Summary template is automatically maintained by Protein Box Bot.  See Template:PBB_Controls to Stop updates. -->
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.<ref name="entrez"/>
{{PBB_Summary
| section_title =
| summary_text = 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.<ref name="entrez">{{cite web | title = Entrez Gene: PDCD10 programmed cell death 10| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=11235| accessdate = }}</ref>
}}


==References==
== Gene ==
{{reflist|2}}
==Further reading==
{{refbegin | 2}}
{{PBB_Further_reading
| citations =
*{{cite journal  | author=Craig HD, Günel M, Cepeda O, ''et al.'' |title=Multilocus linkage identifies two new loci for a mendelian form of stroke, cerebral cavernous malformation, at 7p15-13 and 3q25.2-27. |journal=Hum. Mol. Genet. |volume=7 |issue= 12 |pages= 1851-8 |year= 1998 |pmid= 9811928 |doi=  }}
*{{cite journal  | author=Strausberg RL, Feingold EA, Grouse LH, ''et al.'' |title=Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 26 |pages= 16899-903 |year= 2003 |pmid= 12477932 |doi= 10.1073/pnas.242603899 }}
*{{cite journal  | author=Gerhard DS, Wagner L, Feingold EA, ''et al.'' |title=The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). |journal=Genome Res. |volume=14 |issue= 10B |pages= 2121-7 |year= 2004 |pmid= 15489334 |doi= 10.1101/gr.2596504 }}
*{{cite journal  | author=Bergametti F, Denier C, Labauge P, ''et al.'' |title=Mutations within the programmed cell death 10 gene cause cerebral cavernous malformations. |journal=Am. J. Hum. Genet. |volume=76 |issue= 1 |pages= 42-51 |year= 2005 |pmid= 15543491 |doi= 10.1086/426952 }}
*{{cite journal  | author=Rual JF, Venkatesan K, Hao T, ''et al.'' |title=Towards a proteome-scale map of the human protein-protein interaction network. |journal=Nature |volume=437 |issue= 7062 |pages= 1173-8 |year= 2005 |pmid= 16189514 |doi= 10.1038/nature04209 }}
*{{cite journal  | author=Guclu B, Ozturk AK, Pricola KL, ''et al.'' |title=Cerebral venous malformations have distinct genetic origin from cerebral cavernous malformations. |journal=Stroke |volume=36 |issue= 11 |pages= 2479-80 |year= 2006 |pmid= 16239636 |doi= 10.1161/01.STR.0000183616.99139.d3 }}
*{{cite journal  | author=Guclu B, Ozturk AK, Pricola KL, ''et al.'' |title=Mutations in apoptosis-related gene, PDCD10, cause cerebral cavernous malformation 3. |journal=Neurosurgery |volume=57 |issue= 5 |pages= 1008-13 |year= 2006 |pmid= 16284570 |doi=  }}
*{{cite journal  | author=Liquori CL, Berg MJ, Squitieri F, ''et al.'' |title=Low frequency of PDCD10 mutations in a panel of CCM3 probands: potential for a fourth CCM locus. |journal=Hum. Mutat. |volume=27 |issue= 1 |pages= 118 |year= 2006 |pmid= 16329096 |doi= 10.1002/humu.9389 }}
*{{cite journal  | author=Verlaan DJ, Roussel J, Laurent SB, ''et al.'' |title=CCM3 mutations are uncommon in cerebral cavernous malformations. |journal=Neurology |volume=65 |issue= 12 |pages= 1982-3 |year= 2006 |pmid= 16380626 |doi= 10.1212/01.wnl.0000188903.75144.49 }}
*{{cite journal  | author=Tsang HT, Connell JW, Brown SE, ''et al.'' |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 |year= 2006 |pmid= 16730941 |doi= 10.1016/j.ygeno.2006.04.003 }}
*{{cite journal  | author=Labauge P, Krivosic V, Denier C, ''et al.'' |title=Frequency of retinal cavernomas in 60 patients with familial cerebral cavernomas: a clinical and genetic study. |journal=Arch. Ophthalmol. |volume=124 |issue= 6 |pages= 885-6 |year= 2006 |pmid= 16769843 |doi= 10.1001/archopht.124.6.885 }}
*{{cite journal  | author=Chen PY, Chang WS, Chou RH, ''et al.'' |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 Mol. Biol. |volume=8 |issue=  |pages= 2 |year= 2007 |pmid= 17212813 |doi= 10.1186/1471-2199-8-2 }}
*{{cite journal  | author=Ewing RM, Chu P, Elisma F, ''et al.'' |title=Large-scale mapping of human protein-protein interactions by mass spectrometry. |journal=Mol. Syst. Biol. |volume=3 |issue=  |pages= 89 |year= 2007 |pmid= 17353931 |doi= 10.1038/msb4100134 }}
*{{cite journal  | author=Ma X, Zhao H, Shan J, ''et al.'' |title=PDCD10 interacts with Ste20-related kinase MST4 to promote cell growth and transformation via modulation of the ERK pathway. |journal=Mol. Biol. Cell |volume=18 |issue= 6 |pages= 1965-78 |year= 2007 |pmid= 17360971 |doi= 10.1091/mbc.E06-07-0608 }}
}}
{{refend}}


{{protein-stub}}
Loss of function mutations in ''PDCD10'' result in the onset of Cerebral Cavernous Malformations (CCM) illness.<ref name="pmid15543491"/>  Therefore, this gene is also called ''CCM3''.  Cerebral cavernous malformations (CCMs) are vascular malformations in the brain and spinal cord made of dilated capillary vessels.
{{WikiDoc Sources}}
 
== 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,<ref>{{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 }}</ref> apoptosis<ref>{{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 }}</ref> and functions as part of a larger signaling complex that includes germinal center kinase III,.<ref>{{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 }}</ref><ref>{{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 }}</ref>  Specifically, PDCD10 has been shown to [[Protein-protein interaction|interact]] with [[RP6-213H19.1]],<ref name=pmid18782753>{{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 }}</ref> [[STK25]],<ref name=pmid18782753/><ref name=pmid16189514>{{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 }}</ref> [[STRN]],<ref name=pmid18782753/> [[STRN3]],<ref name=pmid18782753/> [[MOBKL3]],<ref name=pmid18782753/> [[CTTNBP2NL]],<ref name=pmid18782753/> [[STK24]]<ref name=pmid18782753/><ref name=pmid16189514/><ref name=pmid17353931>{{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 }}</ref> and [[FAM40A]].<ref name=pmid18782753/>
 
==Model organisms==
{| class="wikitable sortable collapsible collapsed" border="1" cellpadding="2" style="float: right;" |
|+ ''Pdcd10'' knockout mouse phenotype
|-
! Characteristic!! Phenotype
 
|-
| [[Homozygote]] viability || bgcolor="#C40000"|Abnormal
|-
| [[Recessive]] lethal study || bgcolor="#C40000"|Abnormal
|-
| Fertility || bgcolor="#488ED3"|Normal
|-
| Body weight || bgcolor="#488ED3"|Normal
|-
| [[Open Field (animal test)|Anxiety]] || bgcolor="#488ED3"|Normal
|-
| Neurological assessment || bgcolor="#488ED3"|Normal
|-
| Grip strength || bgcolor="#488ED3"|Normal
|-
| [[Hot plate test|Hot plate]] || bgcolor="#488ED3"|Normal
|-
| [[Dysmorphology]] || bgcolor="#488ED3"|Normal
|-
| [[Indirect calorimetry]] || bgcolor="#488ED3"|Normal
|-
| [[Glucose tolerance test]] || bgcolor="#488ED3"|Normal
|-
| [[Auditory brainstem response]] || bgcolor="#488ED3"|Normal
|-
| [[Dual-energy X-ray absorptiometry|DEXA]] || bgcolor="#488ED3"|Normal
|-
| [[Radiography]] || bgcolor="#488ED3"|Normal
|-
| Body temperature || bgcolor="#488ED3"|Normal
|-
| Eye morphology || bgcolor="#488ED3"|Normal
|-
| [[Clinical chemistry]] || bgcolor="#488ED3"|Normal
|-
| [[Haematology]] || bgcolor="#488ED3"|Normal
|-
| [[Peripheral blood lymphocyte]]s || bgcolor="#488ED3"|Normal
|-
| [[Micronucleus test]] || bgcolor="#488ED3"|Normal
|-
| Heart weight || bgcolor="#488ED3"|Normal
|-
| Skin Histopathology || bgcolor="#488ED3"|Normal
|-
| Eye Histopathology || bgcolor="#488ED3"|Normal
|-
| ''[[Salmonella]]'' infection || bgcolor="#488ED3"|Normal<ref name="''Salmonella'' infection">{{cite web |url=http://www.sanger.ac.uk/mouseportal/phenotyping/MAPB/salmonella-challenge/ |title=''Salmonella'' infection data for Pdcd10 |publisher=Wellcome Trust Sanger Institute}}</ref>
|-
| ''[[Citrobacter]]'' infection || bgcolor="#488ED3"|Normal<ref name="''Citrobacter'' infection">{{cite web |url=http://www.sanger.ac.uk/mouseportal/phenotyping/MAPB/citrobacter-challenge/ |title=''Citrobacter'' infection data for Pdcd10 |publisher=Wellcome Trust Sanger Institute}}</ref>
|-
| colspan=2; style="text-align: center;" | All tests and analysis from<ref name="mgp_reference">{{cite journal | doi = 10.1111/j.1755-3768.2010.4142.x | title = The Sanger Mouse Genetics Programme: High throughput characterisation of knockout mice | year = 2010 | author = Gerdin AK | journal = Acta Ophthalmologica | volume = 88 | pages =  925–7 }}</ref><ref>[http://www.sanger.ac.uk/mouseportal/ Mouse Resources Portal], Wellcome Trust Sanger Institute.</ref>
|}
[[Model organism]]s have been used in the study of PDCD10 function. A conditional [[knockout mouse]] line, called ''Pdcd10<sup>tm1a(KOMP)Wtsi</sup>''<ref name="allele_ref">{{cite web |url=http://www.knockoutmouse.org/martsearch/search?query=Pdcd10 |title=International Knockout Mouse Consortium}}</ref><ref name="mgi_allele_ref">{{cite web |url=http://www.informatics.jax.org/searchtool/Search.do?query=MGI:4363532 |title=Mouse Genome Informatics}}</ref> was generated as part of the [[International Knockout Mouse Consortium]] program — a high-throughput mutagenesis project to generate and distribute animal models of disease to interested scientists.<ref name="pmid21677750">{{cite journal | vauthors = Skarnes WC, Rosen B, West AP, Koutsourakis M, Bushell W, Iyer V, Mujica AO, Thomas M, Harrow J, Cox T, Jackson D, Severin J, Biggs P, Fu J, Nefedov M, de Jong PJ, Stewart AF, Bradley A | title = A conditional knockout resource for the genome-wide study of mouse gene function | journal = Nature | volume = 474 | issue = 7351 | pages = 337–42 | date = Jun 2011 | pmid = 21677750 | pmc = 3572410 | doi = 10.1038/nature10163 }}</ref><ref name="mouse_library">{{cite journal | vauthors = Dolgin E | title = Mouse library set to be knockout | journal = Nature | volume = 474 | issue = 7351 | pages = 262–3 | date = Jun 2011 | pmid = 21677718 | doi = 10.1038/474262a }}</ref><ref name="mouse_for_all_reasons">{{cite journal | vauthors = Collins FS, Rossant J, Wurst W | title = A mouse for all reasons | journal = Cell | volume = 128 | issue = 1 | pages = 9–13 | date = Jan 2007 | pmid = 17218247 | doi = 10.1016/j.cell.2006.12.018 }}</ref>
 
Male and female animals underwent a standardized [[phenotypic screen]] to determine the effects of deletion.<ref name="mgp_reference" /><ref name="pmid21722353">{{cite journal | vauthors = van der Weyden L, White JK, Adams DJ, Logan DW | title = The mouse genetics toolkit: revealing function and mechanism | journal = Genome Biology | volume = 12 | issue = 6 | pages = 224 | year = 2011 | pmid = 21722353 | pmc = 3218837 | doi = 10.1186/gb-2011-12-6-224 }}</ref> Twenty five tests were carried out on [[mutant]] mice and two significant abnormalities were observed.<ref name="mgp_reference" />  No [[homozygous]] [[mutant]] embryos were identified during gestation, and therefore none survived until [[weaning]]. The remaining tests were carried out on [[heterozygous]] mutant adult mice; no additional significant abnormalities were observed in these animals.<ref name="mgp_reference" />
 
== References ==
{{Reflist|33em}}
 
== 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 }}
* {{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 }}
* {{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 }}
* {{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 }}
* {{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 }}
* {{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 }}
* {{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 }}
* {{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 }}
* {{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 }}
{{Refend}}
 
== External links ==
*[http://www.angioma.org www.angioma.org Angioma Alliance]
*[http://www.ccm3.org www.ccm3.org CCM3 Action]
 
[[Category:Genes mutated in mice]]

Revision as of 01:18, 16 November 2017

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Identifiers
Aliases
External IDsGeneCards: [1]
Orthologs
SpeciesHumanMouse
Entrez

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Ensembl

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UniProt

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RefSeq (mRNA)

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RefSeq (protein)

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Location (UCSC)n/an/a
PubMed searchn/an/a
Wikidata
View/Edit Human

Programmed cell death protein 10 is a protein that in humans is encoded by the PDCD10 gene.[1][2]

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.[2]

Gene

Loss of function mutations in PDCD10 result in the onset of Cerebral Cavernous Malformations (CCM) illness.[1] Therefore, this gene is also called CCM3. Cerebral cavernous malformations (CCMs) are vascular malformations in the brain and spinal cord made of dilated capillary vessels.

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,[3] apoptosis[4] and functions as part of a larger signaling complex that includes germinal center kinase III,.[5][6] Specifically, PDCD10 has been shown to interact with RP6-213H19.1,[7] STK25,[7][8] STRN,[7] STRN3,[7] MOBKL3,[7] CTTNBP2NL,[7] STK24[7][8][9] and FAM40A.[7]

Model organisms

Model organisms have been used in the study of PDCD10 function. A conditional knockout mouse line, called Pdcd10tm1a(KOMP)Wtsi[14][15] was generated as part of the International Knockout Mouse Consortium program — a high-throughput mutagenesis project to generate and distribute animal models of disease to interested scientists.[16][17][18]

Male and female animals underwent a standardized phenotypic screen to determine the effects of deletion.[12][19] Twenty five tests were carried out on mutant mice and two significant abnormalities were observed.[12] No homozygous mutant embryos were identified during gestation, and therefore none survived until weaning. The remaining tests were carried out on heterozygous mutant adult mice; no additional significant abnormalities were observed in these animals.[12]

References

  1. ↑ 1.0 1.1 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 (Jan 2005). "Mutations within the programmed cell death 10 gene cause cerebral cavernous malformations". American Journal of Human Genetics. 76 (1): 42–51. doi:10.1086/426952. PMC 1196432. PMID 15543491.
  2. ↑ 2.0 2.1 "Entrez Gene: PDCD10 programmed cell death 10".
  3. ↑ He Y, Zhang H, Yu L, Gunel M, Boggon TJ, Chen H, Min W (2010). "Stabilization of VEGFR2 signaling by cerebral cavernous malformation 3 is critical for vascular development". Science Signaling. 3 (116): ra26. doi:10.1126/scisignal.2000722. PMC 3052863. PMID 20371769.
  4. ↑ Guclu B, Ozturk AK, Pricola KL, Bilguvar K, Shin D, O'Roak BJ, Gunel M (Nov 2005). "Mutations in apoptosis-related gene, PDCD10, cause cerebral cavernous malformation 3". Neurosurgery. 57 (5): 1008–13. doi:10.1227/01.NEU.0000180811.56157.E1. PMID 16284570.
  5. ↑ Fidalgo M, Fraile M, Pires A, Force T, Pombo C, Zalvide J (Apr 2010). "CCM3/PDCD10 stabilizes GCKIII proteins to promote Golgi assembly and cell orientation". Journal of Cell Science. 123 (Pt 8): 1274–84. doi:10.1242/jcs.061341. PMID 20332113.
  6. ↑ Ceccarelli DF, Laister RC, Mulligan VK, Kean MJ, Goudreault M, Scott IC, Derry WB, Chakrabartty A, Gingras AC, Sicheri F (Jul 2011). "CCM3/PDCD10 heterodimerizes with germinal center kinase III (GCKIII) proteins using a mechanism analogous to CCM3 homodimerization". The Journal of Biological Chemistry. 286 (28): 25056–64. doi:10.1074/jbc.M110.213777. PMC 3137079. PMID 21561863.
  7. ↑ 7.0 7.1 7.2 7.3 7.4 7.5 7.6 7.7 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 (Jan 2009). "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". Molecular & Cellular Proteomics. 8 (1): 157–71. doi:10.1074/mcp.M800266-MCP200. PMC 2621004. PMID 18782753.
  8. ↑ 8.0 8.1 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 (Oct 2005). "Towards a proteome-scale map of the human protein-protein interaction network". Nature. 437 (7062): 1173–8. doi:10.1038/nature04209. PMID 16189514.
  9. ↑ 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 (2007). "Large-scale mapping of human protein-protein interactions by mass spectrometry". Molecular Systems Biology. 3 (1): 89. doi:10.1038/msb4100134. PMC 1847948. PMID 17353931.
  10. ↑ "Salmonella infection data for Pdcd10". Wellcome Trust Sanger Institute.
  11. ↑ "Citrobacter infection data for Pdcd10". Wellcome Trust Sanger Institute.
  12. ↑ 12.0 12.1 12.2 12.3 Gerdin AK (2010). "The Sanger Mouse Genetics Programme: High throughput characterisation of knockout mice". Acta Ophthalmologica. 88: 925–7. doi:10.1111/j.1755-3768.2010.4142.x.
  13. ↑ Mouse Resources Portal, Wellcome Trust Sanger Institute.
  14. ↑ "International Knockout Mouse Consortium".
  15. ↑ "Mouse Genome Informatics".
  16. ↑ Skarnes WC, Rosen B, West AP, Koutsourakis M, Bushell W, Iyer V, Mujica AO, Thomas M, Harrow J, Cox T, Jackson D, Severin J, Biggs P, Fu J, Nefedov M, de Jong PJ, Stewart AF, Bradley A (Jun 2011). "A conditional knockout resource for the genome-wide study of mouse gene function". Nature. 474 (7351): 337–42. doi:10.1038/nature10163. PMC 3572410. PMID 21677750.
  17. ↑ Dolgin E (Jun 2011). "Mouse library set to be knockout". Nature. 474 (7351): 262–3. doi:10.1038/474262a. PMID 21677718.
  18. ↑ Collins FS, Rossant J, Wurst W (Jan 2007). "A mouse for all reasons". Cell. 128 (1): 9–13. doi:10.1016/j.cell.2006.12.018. PMID 17218247.
  19. ↑ van der Weyden L, White JK, Adams DJ, Logan DW (2011). "The mouse genetics toolkit: revealing function and mechanism". Genome Biology. 12 (6): 224. doi:10.1186/gb-2011-12-6-224. PMC 3218837. PMID 21722353.

Further reading

External links

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