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C11ORF30 (chromosome 11 open reading frame 30)

Identity

Other namesEMSY
GL002
ENT0
HGNC (Hugo) C11ORF30
Location 11q13.5
Location_base_pair Starts at 76156069 and ends at 76262588 bp from pter ( according to hg19-Feb_2009)  [Mapping]
Local_order CCND1 is also at 11q13

DNA/RNA

Description The gene spans 107 kb; on direct strand
Transcription at least 11 transcripts; one transcript of 4kb and 21 exons encodes a protein of 1323 amino acids and 141 kDa.

Protein

Localisation nucleus
Function binds BRCA2 at its N-term transactivation domain; may repress the transcritional activity of BRCA2

Implicated in

Entity C11ORF30/EMSY was found amplified in 7 and 17 % of cases respectively of sporadic breast cancers and high grade ovarian cancers, but very rarely in other cancers tested.
Note 11q13 is frequently amplified in sporadic breast cancers; CCND1, in particular, is amplified in about 20% of cases. However, C11ORF30/EMSY was found amplified in cases with normal CCND1: they are independant factors.
Prognosis C11ORF30/EMSY amplification is associated with a worse prognosis in node-negative breast cancers, and has no prgnosis implication in node-positive breast cancers.
  

External links

Nomenclature
HGNC (Hugo)C11orf30   18071
Entrez_Gene (NCBI)C11orf30  56946  chromosome 11 open reading frame 30
Cards
AtlasC11ORF30ID173
GeneCards (Weizmann)C11orf30
Ensembl (Hinxton)ENSG00000158636 [Gene_View]  C11orf30 [Vega]
AceView (NCBI)C11orf30
Genatlas (Paris)C11orf30
euGene (Indiana)56946
SOURCE (Stanford)NM_020193
Gene Expression (Array Express) ENSG00000158636
Genomic and cartography
GoldenPath (UCSC)C11orf30  -  11q13.5   chr11:76156069-76262588 +  11q13.5   [Description]    (hg19-Feb_2009)
EnsemblC11orf30 - 11q13.5 [CytoView]
Mapping of homologs : NCBIC11orf30 [Mapview]
OMIM608574   
Gene and transcription
Gene : Genbank (Entrez)AF226047 AJ430203 AK023651 AK125114 AK126030
Reference sequence (RefSeq transcript) :SRSNM_020193
Reference transcript : EntrezNM_020193
RefSeq genomic : SRSAC_000054 AC_000143 NC_000011 NT_167190 NW_001838028 NW_925106
RefSeq genomic : EntrezAC_000054 AC_000143 NC_000011 NT_167190 NW_001838028 NW_925106
Consensus coding sequences : CCDS NCBIC11orf30
Cluster EST : UnigeneHs.352588 [ SRS ] Hs.352588 [ NCBI ]
Alternative Splicing : Fast-db (Paris)12045
Protein : pattern, domain, 3D structure
Protein : UniProt/SwissProtQ17RM7 (SRS) Q17RM7 (Expasy) Q17RM7 (Uniprot)
With graphics : InterProQ17RM7
Splice isoforms : VarSplice FASTAQ17RM7(VarSplice FASTA)
Domaine pattern : Prosite (SRS)ENT (PS51138)   
Domain pattern : Prosite (Expaxy)ENT (PS51138)   
Domains : Interpro (SRS)ENT   
Domains : Interpro (EBI)ENT   
Related proteins : CluSTrQ17RM7
Domain families : Pfam SRSENT (PF03735)   
Domain families : Pfam SangerENT (PF03735)   
Domain families : Pfam NCBIpfam03735   
Blocks (Seattle)Q17RM7
Crystal structure of protein : PDB SRS
Crystal structure of protein : PDBSum
Crystal structure of protein : IMB
Crystal structure of protein : PDB RSDB
Human Protein AtlasENSG00000158636
HPRD10544
Protein Interaction databases
DIP (DOE-UCLA)Q17RM7
IntAct (EBI)Q17RM7
FunCoupENSG00000158636
Polymorphism : SNP, mutations, diseases
Single Nucleotide Polymorphism (SNP) : dbSNP NCBIC11orf30
SNP : GeneSNP UtahC11orf30
SNP : HGBaseC11orf30
Genetic variants : HAPMAPC11orf30
Somatic Mutations in Cancer : COSMICC11orf30 
Mutations and Diseases : HGMDC11orf30
Hereditary diseases : OMIM608574   
Hereditary diseases : GENETests608574   
Diseases : Genetic AssociationC11orf30
General knowledge
Homologs : HomoloGeneC11orf30
Homology/Alignments : Family Browser UCSCC11orf30
Phylogenetic Trees/Animal Genes : TreeFamC11orf30
Chemical/Protein Interactions : CTD56946
Keywords Ontology : AmiGOnucleus  DNA repair  chromatin modification  regulation of transcription  
Keywords Ontology : EGO-EBInucleus  DNA repair  chromatin modification  regulation of transcription  
Pathways : BIOCARTA
Pathways : KEGG
Other databases
Probes
Probes : ImagenesC11ORF30 Related clones (RZPD - Berlin)
Literature
PubMed19 Pubmed reference(s) in Entrez
PubGeneC11orf30

Bibliography

EMSY links the BRCA2 pathway to sporadic breast and ovarian cancer.
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
Cell. 2003 ; 115 (5) : 523-535.
PMID 14651845
 
EMSY, a BRCA-2 partner in crime.
Livingston DM
Nature medicine. 2004 ; 10 (2) : 127-128.
PMID 14760417
 
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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Contributor(s)

Written05-2004Jean-Loup Huret, Sylvie Senon

Citation

This paper should be referenced as such :
Huret JL, Senon S . C11ORF30 (chromosome 11 open reading frame 30). Atlas Genet Cytogenet Oncol Haematol. May 2004 .
URL : http://AtlasGeneticsOncology.org/Genes/C11ORF30ID173.html

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indexed on : Thu Jul 15 14:45:11 CEST 2010
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