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C11orf30 (chromosome 11 open reading frame 30)

Identity

Other namesC11ORF30
EMSY
GL002
ENT0
HGNC (Hugo) C11orf30
LocusID (NCBI) 56946
Location 11q13.5
Location_base_pair Starts at 76156069 and ends at 76262589 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
Cards
AtlasC11ORF30ID173
Entrez_Gene (NCBI)C11orf30  56946  chromosome 11 open reading frame 30
GeneCards (Weizmann)C11orf30
Ensembl (Hinxton)ENSG00000158636 [Gene_View]  chr11:76156069-76262589 [Contig_View]  C11orf30 [Vega]
ICGC DataPortalENSG00000158636
cBioPortalC11orf30
AceView (NCBI)C11orf30
Genatlas (Paris)C11orf30
WikiGenes56946
SOURCE (Princeton)NM_001300942 NM_001300943 NM_001300944 NM_020193
Genomic and cartography
GoldenPath (UCSC)C11orf30  -  11q13.5   chr11:76156069-76262589 +  11q13.5   [Description]    (hg19-Feb_2009)
EnsemblC11orf30 - 11q13.5 [CytoView]
Mapping of homologs : NCBIC11orf30 [Mapview]
OMIM608574   
Gene and transcription
Genbank (Entrez)AF226047 AI275430 AJ430203 AK023651 AK125114
RefSeq transcript (Entrez)NM_001300942 NM_001300943 NM_001300944 NM_020193
RefSeq genomic (Entrez)AC_000143 NC_000011 NC_018922 NT_167190 NW_001838028 NW_004929380
Consensus coding sequences : CCDS (NCBI)C11orf30
Cluster EST : UnigeneHs.352588 [ NCBI ]
CGAP (NCI)Hs.352588
Alternative Splicing : Fast-db (Paris)GSHG0005124
Alternative Splicing GalleryENSG00000158636
Gene ExpressionC11orf30 [ NCBI-GEO ]     C11orf30 [ SEEK ]   C11orf30 [ MEM ]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ7Z589 (Uniprot)
NextProtQ7Z589  [Medical]
With graphics : InterProQ7Z589
Splice isoforms : SwissVarQ7Z589 (Swissvar)
Domaine pattern : Prosite (Expaxy)ENT (PS51138)   
Domains : Interpro (EBI)ENT_N [organisation]  
Related proteins : CluSTrQ7Z589
Domain families : Pfam (Sanger)ENT (PF03735)   
Domain families : Pfam (NCBI)pfam03735   
DMDM Disease mutations56946
Blocks (Seattle)Q7Z589
PDB (SRS)1UTU    1UZ3    2FMM   
PDB (PDBSum)1UTU    1UZ3    2FMM   
PDB (IMB)1UTU    1UZ3    2FMM   
PDB (RSDB)1UTU    1UZ3    2FMM   
Human Protein AtlasENSG00000158636 [gene] [tissue] [antibody] [cell] [cancer]
Peptide AtlasQ7Z589
HPRD10544
IPIIPI00872314   IPI00413757   IPI00787382   IPI00983434   IPI01009430   IPI00152627   IPI00922191   IPI00977533   IPI00981684   IPI00976317   IPI00979726   IPI00982344   IPI00976380   
Protein Interaction databases
DIP (DOE-UCLA)Q7Z589
IntAct (EBI)Q7Z589
FunCoupENSG00000158636
BioGRIDC11orf30
InParanoidQ7Z589
Interologous Interaction database Q7Z589
IntegromeDBC11orf30
STRING (EMBL)C11orf30
Ontologies - Pathways
Ontology : AmiGOnucleus  DNA repair  transcription, DNA-templated  regulation of transcription, DNA-templated  chromatin modification  
Ontology : EGO-EBInucleus  DNA repair  transcription, DNA-templated  regulation of transcription, DNA-templated  chromatin modification  
Protein Interaction DatabaseC11orf30
Wikipedia pathwaysC11orf30
Gene fusion - rearrangments
Polymorphisms : SNP, mutations, diseases
SNP Single Nucleotide Polymorphism (NCBI)C11orf30
snp3D : Map Gene to Disease56946
SNP (GeneSNP Utah)C11orf30
SNP : HGBaseC11orf30
Genetic variants : HAPMAPC11orf30
Exome VariantC11orf30
1000_GenomesC11orf30 
ICGC programENSG00000158636 
Somatic Mutations in Cancer : COSMICC11orf30 
CONAN: Copy Number AnalysisC11orf30 
Mutations and Diseases : HGMDC11orf30
Genomic VariantsC11orf30  C11orf30 [DGVbeta]
dbVarC11orf30
ClinVarC11orf30
Pred. of missensesPolyPhen-2  SIFT(SG)  SIFT(JCVI)  Align-GVGD  MutAssessor  Mutanalyser  
Pred. splicesGeneSplicer  Human Splicing Finder  MaxEntScan  
Diseases
OMIM608574   
MedgenC11orf30
GENETestsC11orf30
Disease Genetic AssociationC11orf30
Huge Navigator C11orf30 [HugePedia]  C11orf30 [HugeCancerGEM]
General knowledge
Homologs : HomoloGeneC11orf30
Homology/Alignments : Family Browser (UCSC)C11orf30
Phylogenetic Trees/Animal Genes : TreeFamC11orf30
Chemical/Protein Interactions : CTD56946
Chemical/Pharm GKB GenePA134904392
Clinical trialC11orf30
Cancer Resource (Charite)ENSG00000158636
Other databases
Probes
Litterature
PubMed46 Pubmed reference(s) in Entrez
CoreMineC11orf30
iHOPC11orf30
OncoSearchC11orf30

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. 2004;8(3):190-190.
Free online version   Free pdf version   [Bibliographic record ]
URL : http://AtlasGeneticsOncology.org/Genes/C11ORF30ID173.html

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indexed on : Wed Jul 30 16:40:25 CEST 2014
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