C11orf30 chromosome 11 open reading frame 30 [Homo sapiens] - Gene

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Summary

Official Symbol: C11orf30provided by HGNC
Official Full Name: chromosome 11 open reading frame 30provided by HGNC
Primary source: HGNC:18071
Locus tag: GL002
See related: Ensembl:ENSG00000158636; HPRD:10544; MIM:608574; Vega:OTTHUMG00000165282
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: EMSY; GL002

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Genomic context

Location :: 11q13.5

Sequence :: Chromosome: 11; NC_000011.9 (76156069..76262589)

See C11orf30 in Epigenomics, MapViewer

Chromosome 11 - NC_000011.9 Genomic Context describing neighboring genes

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Genomic regions, transcripts, and products

Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Go to reference sequence details

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Bibliography

GeneRIFs: Gene References Into Functions What's a GeneRIF?

EMSY amplification does occur independently of CCND1 amplification in a minority of familial breast cancers, supporting its role as a possible breast cancer oncogene
Title: EMSY and CCND1 amplification in familial breast cancer: from the Ontario site of the Breast Cancer Family Registry.
EMSY amplification may mimic BRCA2 deficiency, at least by overriding RPA and PALB2, crippling the BRCA2/RAD51 complex at DNA-damage and replication/transcription sites
Title: EMSY overexpression disrupts the BRCA2/RAD51 pathway in the DNA-damage response: implications for chromosomal instability/recombination syndromes as checkpoint diseases.
Sporadic ovarian cancer shows overexpression of EMSY at a prevalence similar to that found in breast cancer and the overexpression is correlated with the protein level.
Title: Expression of EMSY gene in sporadic ovarian cancer.
co-amplification of CCND1 and EMSY identified a poor prognostic subset of ER-positive tamoxifen-treated patients
Title: Co-amplification of CCND1 and EMSY is associated with an adverse outcome in ER-positive tamoxifen-treated breast cancers.
Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
Observational study and genome-wide association study of gene-disease association. (HuGE Navigator)
Title: A common variant on chromosome 11q13 is associated with atopic dermatitis.
The identified components revealed factors involved in histone methylation and cell cycle control and include Ash2L, RbBP5, WDR5, HCF-1, DBC-1, and EMSY.
Title: Identification and characterization of a novel nuclear protein complex involved in nuclear hormone receptor-mediated gene regulation.
Data examine possible allelic imbalance in papillary thyroid cancer at EMSY, CAPN5, and PAK1, as candidate genes within 11q13.5-q14 region using a single nucleotide polymorphism-based analysis.
Title: Absence of allelic imbalance involving EMSY, CAPN5, and PAK1 genes in papillary thyroid carcinoma.
Observational study of gene-disease association. (HuGE Navigator)
Title: Evidence for significant overlap between common risk variants for Crohn's disease and ankylosing spondylitis.
gene copy numbers of EMSY in breast cancers
Title: Genetic alterations of CCND1 and EMSY in breast cancers.

Submit: New GeneRIF Correction See all (17)

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Phenotypes

Review eQTL and phenotype association data in this region using PheGenI

A common variant on chromosome 11q13 is associated with atopic dermatitis.

Genome-wide association defines more than 30 distinct susceptibility loci for Crohn's disease.

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Products	Interactant	Other Gene	Source	Pubs	Description
Q7Z589	P51587	BRCA2	HPRD	PubMed
Q7Z589	P83916	CBX1	HPRD	PubMed
Q7Z589	Q15326	ZMYND11	HPRD	PubMed
BioGRID:121270	BioGRID:114528	ASH2L	BioGRID	PubMed	Affinity Capture-Western
BioGRID:121270	BioGRID:107142	BRCA2	BioGRID	PubMed	Affinity Capture-Western; Reconstituted Complex; Two-hybrid
BioGRID:121270	BioGRID:116151	CBX1	BioGRID	PubMed	Affinity Capture-Western; Co-crystal Structure; Reconstituted Complex; Two-hybrid
BioGRID:121270	BioGRID:121775	KIAA1967	BioGRID	PubMed	Affinity Capture-Western
BioGRID:121270	BioGRID:111864	RBBP5	BioGRID	PubMed	Affinity Capture-Western
BioGRID:121270	BioGRID:112734	TADA2A	BioGRID	PubMed	Affinity Capture-MS
BioGRID:121270	BioGRID:113164	UBC	BioGRID	PubMed	Affinity Capture-MS
BioGRID:121270	BioGRID:115989	ZMYND11	BioGRID	PubMed	Affinity Capture-Western; Reconstituted Complex; Two-hybrid
BioGRID:121270	BioGRID:121994	ZNF335	BioGRID	PubMed	Affinity Capture-Western

Process	Evidence Code	Pubs
DNA repair	IEA Inferred from Electronic Annotation more info
chromatin modification	IEA Inferred from Electronic Annotation more info
regulation of transcription, DNA-dependent	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
nucleus	IEA Inferred from Electronic Annotation more info

General protein information

Preferred Names: protein EMSY

Names: protein EMSY

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NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_020193.3 → NP_064578.2 protein EMSY

Status: VALIDATED

Source sequence(s)

AF226047, AJ430203, BC029375, BG722092, BX647398

Consensus CDS

CCDS8244.1

UniProtKB/Swiss-Prot

Q7Z589

Related

ENSP00000334130, ENST00000334736

Conserved Domains (2) summary

pfam03735
Location:16 – 88
Blast Score: 264

ENT; ENT domain

pfam09770
Location:957 – 1103
Blast Score: 94

PAT1; Topoisomerase II-associated protein PAT1

RefSeqs of Annotated Genomes: Build 37.3

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh37.p5 Primary Assembly

Genomic

NC_000011.9 Reference GRCh37.p5 Primary Assembly

Range

76156069..76262589

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

AC_000143.1 Alternate HuRef

Range

72452941..72559477

Download

GenBank, FASTA, Sequence Viewer (Graphics)

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Related Sequences

Nucleotide		Protein
Heading	Accession and Version	Protein
genomic	AP002360.4 (160641..166336)	None
genomic	AP003165.2	None
genomic	CH471076.1	EAW74996.1
		EAW74997.1
		EAW74998.1
		EAW74999.1
		EAW75000.1
mRNA	AF226047.1	AAF86947.1
mRNA	AJ430203.1	CAD22881.1
mRNA	AK023651.1	BAB14627.1
mRNA	AK125114.1	BAG54147.1
mRNA	AK126030.1	BAG54280.1
mRNA	AK304043.1	BAG64954.1
mRNA	AK304106.1	BAG65009.1
mRNA	AK309621.1	None
mRNA	AY070433.1	AAL65260.1
mRNA	BC021688.1	None
mRNA	BC029375.1	AAH29375.1
mRNA	BC033404.1	AAH33404.1
mRNA	BC117265.1	AAI17266.1
mRNA	BC143370.1	AAI43371.1
mRNA	BC143374.1	AAI43375.1
mRNA	BC143376.1	AAI43377.1
mRNA	BG722092.1	None
mRNA	BX647398.1	None