C11orf30: Difference between revisions

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{{Infobox_gene}}
{{PBB_Controls
'''Protein EMSY''' is a [[protein]] that in humans is encoded by the ''C11orf30'' [[gene]].<ref name="entrez">{{cite web | title = Entrez Gene: C11orf30 chromosome 11 open reading frame 30| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=56946| 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. -->
== Clinical significance ==
{{GNF_Protein_box
C11orf30 has been shown to associate with [[atopy]] and susceptibility to poly-sensitisation.<ref>{{cite journal|last1=Amaral|first1=A. F. S.|last2=Minelli|first2=C.|last3=Guerra|first3=S.|last4=Wjst|first4=M.|last5=Probst-Hensch|first5=N.|last6=Pin|first6=I.|last7=Svanes|first7=C.|last8=Janson|first8=C.|last9=Heinrich|first9=J.|last10=Jarvis|first10=D. L.|title=The locus C11orf30 increases susceptibility to poly-sensitization|journal=Allergy|date=March 2015|volume=70|issue=3|pages=328–333|doi=10.1111/all.12557|pmid=25546184}}</ref>
| image = PBB_Protein_C11orf30_image.jpg
| image_source = [[Protein_Data_Bank|PDB]] rendering based on 1utu.
| PDB = {{PDB2|1utu}}, {{PDB2|1uz3}}, {{PDB2|2fmm}}
| Name = Chromosome 11 open reading frame 30
| HGNCid = 18071
| Symbol = C11orf30
| AltSymbols =; EMSY; FLJ90741; GL002
| OMIM = 608573
| ECnumber =
| Homologene = 32465
| MGIid = 1924203
| GeneAtlas_image1 = PBB_GE_C11orf30_219012_s_at_tn.png
| Function =
| Component = {{GNF_GO|id=GO:0005634 |text = nucleus}}
| Process = {{GNF_GO|id=GO:0006281 |text = DNA repair}} {{GNF_GO|id=GO:0006350 |text = transcription}} {{GNF_GO|id=GO:0006355 |text = regulation of transcription, DNA-dependent}} {{GNF_GO|id=GO:0016568 |text = chromatin modification}}
| Orthologs = {{GNF_Ortholog_box
    | Hs_EntrezGene = 56946
    | Hs_Ensembl = ENSG00000158636
    | Hs_RefseqProtein = NP_064578
    | Hs_RefseqmRNA = NM_020193
    | Hs_GenLoc_db =
    | Hs_GenLoc_chr = 11
    | Hs_GenLoc_start = 75833717
    | Hs_GenLoc_end = 75940234
    | Hs_Uniprot = Q7Z589
    | Mm_EntrezGene = 233545
    | Mm_Ensembl = ENSMUSG00000035401
    | Mm_RefseqmRNA = XM_897335
    | Mm_RefseqProtein = XP_902428
    | Mm_GenLoc_db =
    | Mm_GenLoc_chr = 7
    | Mm_GenLoc_start = 98465807
    | Mm_GenLoc_end = 98531761
    | Mm_Uniprot = Q8BMB0
  }}
}}
'''Chromosome 11 open reading frame 30''', also known as '''C11orf30''', is a human [[gene]].<ref name="entrez">{{cite web | title = Entrez Gene: C11orf30 chromosome 11 open reading frame 30| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=56946| accessdate = }}</ref>


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== Interactions ==
{{PBB_Summary
| section_title =  
| summary_text =  
}}


==References==
C11orf30 has been shown to [[Protein-protein interaction|interact]] with [[ZMYND11]],<ref name=pmid14651845>{{cite journal | vauthors = Hughes-Davies L, Huntsman D, Ruas M, Fuks F, Bye J, Chin SF, Milner J, Brown LA, Hsu F, Gilks B, Nielsen T, Schulzer M, Chia S, Ragaz J, Cahn A, Linger L, Ozdag H, Cattaneo E, Jordanova ES, Schuuring E, Yu DS, Venkitaraman A, Ponder B, Doherty A, Aparicio S, Bentley D, Theillet C, Ponting CP, Caldas C, Kouzarides T | title = EMSY links the BRCA2 pathway to sporadic breast and ovarian cancer | journal = Cell | volume = 115 | issue = 5 | pages = 523–35  | date = Nov 2003 | pmid = 14651845 | doi = 10.1016/S0092-8674(03)00930-9 }}</ref> [[BRCA2]]<ref name=pmid14651845/> and [[CBX1]].<ref name=pmid14651845/>
{{reflist|2}}
 
==Further reading==
== References ==
{{reflist}}
 
==External links==
* {{UCSC gene info|C11orf30}}
 
== Further reading ==
{{refbegin | 2}}
{{refbegin | 2}}
{{PBB_Further_reading
* {{cite journal | vauthors = Hughes-Davies L, Huntsman D, Ruas M, Fuks F, Bye J, Chin SF, Milner J, Brown LA, Hsu F, Gilks B, Nielsen T, Schulzer M, Chia S, Ragaz J, Cahn A, Linger L, Ozdag H, Cattaneo E, Jordanova ES, Schuuring E, Yu DS, Venkitaraman A, Ponder B, Doherty A, Aparicio S, Bentley D, Theillet C, Ponting CP, Caldas C, Kouzarides T | title = EMSY links the BRCA2 pathway to sporadic breast and ovarian cancer | journal = Cell | volume = 115 | issue = 5 | pages = 523–35 | year = 2003 | pmid = 14651845 | doi = 10.1016/S0092-8674(03)00930-9 }}
| citations =
* {{cite journal | vauthors = Bera TK, Das S, Maeda H, Beers R, Wolfgang CD, Kumar V, Hahn Y, Lee B, Pastan I | title = NGEP, a gene encoding a membrane protein detected only in prostate cancer and normal prostate | journal = Proc. Natl. Acad. Sci. U.S.A. | volume = 101 | issue = 9 | pages = 3059–64 | year = 2004 | pmid = 14981236 | pmc = 365744 | doi = 10.1073/pnas.0308746101 }}
*{{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 | vauthors = Beausoleil SA, Jedrychowski M, Schwartz D, Elias JE, Villén J, Li J, Cohn MA, Cantley LC, Gygi SP | title = Large-scale characterization of HeLa cell nuclear phosphoproteins | journal = Proc. Natl. Acad. Sci. U.S.A. | volume = 101 | issue = 33 | pages = 12130–5 | year = 2004 | pmid = 15302935 | pmc = 514446 | doi = 10.1073/pnas.0404720101 }}
*{{cite journal  | author=Hughes-Davies L, Huntsman D, Ruas M, ''et al.'' |title=EMSY links the BRCA2 pathway to sporadic breast and ovarian cancer. |journal=Cell |volume=115 |issue= 5 |pages= 523-35 |year= 2004 |pmid= 14651845 |doi= }}
* {{cite journal | vauthors = Ekblad CM, Chavali GB, Basu BP, Freund SM, Veprintsev D, Hughes-Davies L, Kouzarides T, Doherty AJ, Itzhaki LS | title = Binding of EMSY to HP1beta: implications for recruitment of HP1beta and BS69 | journal = EMBO Rep. | volume = 6 | issue = 7 | pages = 675–80 | year = 2005 | pmid = 15947784 | pmc = 1369107 | doi = 10.1038/sj.embor.7400415 }}
*{{cite journal  | author=Ota T, Suzuki Y, Nishikawa T, ''et al.'' |title=Complete sequencing and characterization of 21,243 full-length human cDNAs. |journal=Nat. Genet. |volume=36 |issue= 1 |pages= 40-5 |year= 2004 |pmid= 14702039 |doi= 10.1038/ng1285 }}
* {{cite journal | vauthors = Chavali GB, Ekblad CM, Basu BP, Brissett NC, Veprintsev D, Hughes-Davies L, Kouzarides T, Itzhaki LS, Doherty AJ | title = Crystal structure of the ENT domain of human EMSY | journal = J. Mol. Biol. | volume = 350 | issue = 5 | pages = 964–73 | year = 2005 | pmid = 15978617 | doi = 10.1016/j.jmb.2005.05.047 }}
*{{cite journal | author=Bera TK, Das S, Maeda H, ''et al.'' |title=NGEP, a gene encoding a membrane protein detected only in prostate cancer and normal prostate. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=101 |issue= 9 |pages= 3059-64 |year= 2004 |pmid= 14981236 |doi= 10.1073/pnas.0308746101 }}
* {{cite journal | vauthors = Benusiglio PR, Lesueur F, Luccarini C, McIntosh J, Luben RN, Smith P, Dunning A, Easton DF, Ponder BA, Pharoah PD | title = Common variation in EMSY and risk of breast and ovarian cancer: a case-control study using HapMap tagging SNPs | journal = BMC Cancer | volume = 5 | pages = 81 | year = 2005 | pmid = 16029503 | pmc = 1185523 | doi = 10.1186/1471-2407-5-81 }}
*{{cite journal | author=Beausoleil SA, Jedrychowski M, Schwartz D, ''et al.'' |title=Large-scale characterization of HeLa cell nuclear phosphoproteins. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=101 |issue= 33 |pages= 12130-5 |year= 2004 |pmid= 15302935 |doi= 10.1073/pnas.0404720101 }}
* {{cite journal | vauthors = Raouf A, Brown L, Vrcelj N, To K, Kwok W, Huntsman D, Eaves CJ | title = Genomic instability of human mammary epithelial cells overexpressing a truncated form of EMSY | journal = J. Natl. Cancer Inst. | volume = 97 | issue = 17 | pages = 1302–6 | year = 2005 | pmid = 16145051 | doi = 10.1093/jnci/dji254 }}
*{{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 | vauthors = Brown LA, Irving J, Parker R, Kim H, Press JZ, Longacre TA, Chia S, Magliocco A, Makretsov N, Gilks B, Pollack J, Huntsman D | title = Amplification of EMSY, a novel oncogene on 11q13, in high grade ovarian surface epithelial carcinomas | journal = Gynecol. Oncol. | volume = 100 | issue = 2 | pages = 264–70 | year = 2006 | pmid = 16236351 | doi = 10.1016/j.ygyno.2005.08.026 }}
*{{cite journal  | author=Ekblad CM, Chavali GB, Basu BP, ''et al.'' |title=Binding of EMSY to HP1beta: implications for recruitment of HP1beta and BS69. |journal=EMBO Rep. |volume=6 |issue= 7 |pages= 675-80 |year= 2005 |pmid= 15947784 |doi= 10.1038/sj.embor.7400415 }}
* {{cite journal | vauthors = Huang Y, Myers MP, Xu RM | title = Crystal structure of the HP1-EMSY complex reveals an unusual mode of HP1 binding | journal = Structure | volume = 14 | issue = 4 | pages = 703–12 | year = 2006 | pmid = 16615912 | doi = 10.1016/j.str.2006.01.007 }}
*{{cite journal | author=Chavali GB, Ekblad CM, Basu BP, ''et al.'' |title=Crystal structure of the ENT domain of human EMSY. |journal=J. Mol. Biol. |volume=350 |issue= 5 |pages= 964-73 |year= 2005 |pmid= 15978617 |doi= 10.1016/j.jmb.2005.05.047 }}
*{{cite journal | author=Benusiglio PR, Lesueur F, Luccarini C, ''et al.'' |title=Common variation in EMSY and risk of breast and ovarian cancer: a case-control study using HapMap tagging SNPs. |journal=BMC Cancer |volume=5 |issue=  |pages= 81 |year= 2006 |pmid= 16029503 |doi= 10.1186/1471-2407-5-81 }}
*{{cite journal | author=Raouf A, Brown L, Vrcelj N, ''et al.'' |title=Genomic instability of human mammary epithelial cells overexpressing a truncated form of EMSY. |journal=J. Natl. Cancer Inst. |volume=97 |issue= 17 |pages= 1302-6 |year= 2005 |pmid= 16145051 |doi= 10.1093/jnci/dji254 }}
*{{cite journal | author=Brown LA, Irving J, Parker R, ''et al.'' |title=Amplification of EMSY, a novel oncogene on 11q13, in high grade ovarian surface epithelial carcinomas. |journal=Gynecol. Oncol. |volume=100 |issue= 2 |pages= 264-70 |year= 2006 |pmid= 16236351 |doi= 10.1016/j.ygyno.2005.08.026 }}
*{{cite journal | author=Huang Y, Myers MP, Xu RM |title=Crystal structure of the HP1-EMSY complex reveals an unusual mode of HP1 binding. |journal=Structure |volume=14 |issue= 4 |pages= 703-12 |year= 2006 |pmid= 16615912 |doi= 10.1016/j.str.2006.01.007 }}
}}
{{refend}}
{{refend}}


{{protein-stub}}
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Latest revision as of 08:53, 30 August 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

Protein EMSY is a protein that in humans is encoded by the C11orf30 gene.[1]

Clinical significance

C11orf30 has been shown to associate with atopy and susceptibility to poly-sensitisation.[2]

Interactions

C11orf30 has been shown to interact with ZMYND11,[3] BRCA2[3] and CBX1.[3]

References

  1. ↑ "Entrez Gene: C11orf30 chromosome 11 open reading frame 30".
  2. ↑ Amaral, A. F. S.; Minelli, C.; Guerra, S.; Wjst, M.; Probst-Hensch, N.; Pin, I.; Svanes, C.; Janson, C.; Heinrich, J.; Jarvis, D. L. (March 2015). "The locus C11orf30 increases susceptibility to poly-sensitization". Allergy. 70 (3): 328–333. doi:10.1111/all.12557. PMID 25546184.
  3. ↑ 3.0 3.1 3.2 Hughes-Davies L, Huntsman D, Ruas M, Fuks F, Bye J, Chin SF, Milner J, Brown LA, Hsu F, Gilks B, Nielsen T, Schulzer M, Chia S, Ragaz J, Cahn A, Linger L, Ozdag H, Cattaneo E, Jordanova ES, Schuuring E, Yu DS, Venkitaraman A, Ponder B, Doherty A, Aparicio S, Bentley D, Theillet C, Ponting CP, Caldas C, Kouzarides T (Nov 2003). "EMSY links the BRCA2 pathway to sporadic breast and ovarian cancer". Cell. 115 (5): 523–35. doi:10.1016/S0092-8674(03)00930-9. PMID 14651845.

External links

Further reading


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