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Aliases for C11orf30 Gene

Aliases for C11orf30 Gene

  • Chromosome 11 Open Reading Frame 30 2 3
  • EMSY 3 4
  • GL002 3

External Ids for C11orf30 Gene

Previous GeneCards Identifiers for C11orf30 Gene

  • GC11P075884
  • GC11P075882
  • GC11P075833
  • GC11P076156
  • GC11P072452

Summaries for C11orf30 Gene

GeneCards Summary for C11orf30 Gene

C11orf30 (Chromosome 11 Open Reading Frame 30) is a Protein Coding gene. Diseases associated with C11orf30 include sporadic breast cancer and nasal cavity disease. GO annotations related to this gene include protein homodimerization activity.

UniProtKB/Swiss-Prot for C11orf30 Gene

  • Regulator which is able to repress transcription, possibly via its interaction with a multiprotein chromatin remodeling complex that modifies the chromatin. Its interaction with BRCA2 suggests that it may play a central role in the DNA repair function of BRCA2. As part of a histone H3-specific methyltransferase complex may mediate ligand-dependent transcriptional activation by nuclear hormone receptors.

Gene Wiki entry for C11orf30 Gene

No data available for Entrez Gene Summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for C11orf30 Gene

Genomics for C11orf30 Gene

Regulatory Elements for C11orf30 Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for C11orf30 Gene

Chromosome:
11
Start:
76,444,923 bp from pter
End:
76,553,025 bp from pter
Size:
108,103 bases
Orientation:
Plus strand

Genomic View for C11orf30 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for C11orf30 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for C11orf30 Gene

Proteins for C11orf30 Gene

  • Protein details for C11orf30 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q7Z589-EMSY_HUMAN
    Recommended name:
    Protein EMSY
    Protein Accession:
    Q7Z589
    Secondary Accessions:
    • B7ZKT8
    • B7ZKU0
    • B7ZKU2
    • Q17RM7
    • Q4G109
    • Q8NBU6
    • Q8TE50
    • Q9H8I9
    • Q9NRH0

    Protein attributes for C11orf30 Gene

    Size:
    1322 amino acids
    Molecular mass:
    141468 Da
    Quaternary structure:
    • Homodimer. Interacts with the transactivation domain of BRCA2. Interacts with the chromoshadow domain of CBX1 and with ZMYND11. Does not interact with CBX3 or CBX5. Part of a complex composed at least of ASCL2, C11orf30/EMSY, HCFC1, HSPA8, CCAR2, MATR3, MKI67, RBBP5, TUBB2A, WDR5 and ZNF335; this complex may have a histone H3-specific methyltransferase activity. Interacts with ZMYND11.
    Miscellaneous:
    • Defects in EMSY may be a cause of sporadic breast cancer and higher-grade ovarian cancers. Overexpressed through amplification almost exclusively in sporadic breast cancer (13%) and higher-grade ovarian cancer (17%). Amplification is associated with worse survival, particularly in node-negative breast cancer, suggesting that it may be of prognostic value
    • Was named EMSY by PubMed:14651845 because the protein sequence contains the word SISTER, after the first authors sister, who is a breast cancer nurse
    SequenceCaution:
    • Sequence=AAF86947.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=AAH29375.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=AAL65260.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=BAB14627.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for C11orf30 Gene

    Alternative splice isoforms for C11orf30 Gene

neXtProt entry for C11orf30 Gene

Proteomics data for C11orf30 Gene at MOPED

Post-translational modifications for C11orf30 Gene

  • O-glycosylated during cytokinesis at sites identical or close to phosphorylation sites, this interferes with the phosphorylation status.
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Antibody Products

No data available for DME Specific Peptides for C11orf30 Gene

Domains & Families for C11orf30 Gene

Protein Domains for C11orf30 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for C11orf30 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q7Z589

UniProtKB/Swiss-Prot:

EMSY_HUMAN :
  • Contains 1 ENT (EMSY N-terminal) domain.
Domain:
  • Contains 1 ENT (EMSY N-terminal) domain.
genes like me logo Genes that share domains with C11orf30: view

No data available for Gene Families for C11orf30 Gene

Function for C11orf30 Gene

Molecular function for C11orf30 Gene

UniProtKB/Swiss-Prot Function:
Regulator which is able to repress transcription, possibly via its interaction with a multiprotein chromatin remodeling complex that modifies the chromatin. Its interaction with BRCA2 suggests that it may play a central role in the DNA repair function of BRCA2. As part of a histone H3-specific methyltransferase complex may mediate ligand-dependent transcriptional activation by nuclear hormone receptors.

Gene Ontology (GO) - Molecular Function for C11orf30 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 25416956
GO:0042803 protein homodimerization activity IEA --
genes like me logo Genes that share ontologies with C11orf30: view

Phenotypes for C11orf30 Gene

genes like me logo Genes that share phenotypes with C11orf30: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for C11orf30

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for C11orf30 Gene

Localization for C11orf30 Gene

Subcellular locations from UniProtKB/Swiss-Prot for C11orf30 Gene

Nucleus. Note=Localizes to DNA damage markers in irradiated cells, suggesting that it participates in DNA repair process.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for C11orf30 Gene COMPARTMENTS Subcellular localization image for C11orf30 gene
Compartment Confidence
nucleus 4
cytosol 2

Gene Ontology (GO) - Cellular Components for C11orf30 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005654 nucleoplasm IDA --
genes like me logo Genes that share ontologies with C11orf30: view

Pathways & Interactions for C11orf30 Gene

SuperPathways for C11orf30 Gene

No Data Available

Gene Ontology (GO) - Biological Process for C11orf30 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006281 DNA repair IEA --
GO:0006351 transcription, DNA-templated IEA --
GO:0006355 regulation of transcription, DNA-templated IEA --
GO:0016568 chromatin modification IEA --
genes like me logo Genes that share ontologies with C11orf30: view

No data available for Pathways by source and SIGNOR curated interactions for C11orf30 Gene

Drugs & Compounds for C11orf30 Gene

No Compound Related Data Available

Transcripts for C11orf30 Gene

Unigene Clusters for C11orf30 Gene

Chromosome 11 open reading frame 30:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for C11orf30

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for C11orf30 Gene

ExUns: 1a · 1b ^ 2a · 2b ^ 3 ^ 4a · 4b ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10a · 10b ^ 11a · 11b ^ 12 ^ 13a · 13b ^ 14 ^ 15 ^ 16 ^ 17 ^ 18a · 18b ^ 19a ·
SP1: - -
SP2: - - - -
SP3: -
SP4:
SP5:
SP6:
SP7:

ExUns: 19b ^ 20a · 20b ^ 21 ^ 22a · 22b · 22c
SP1: - -
SP2: - -
SP3:
SP4:
SP5: - - - -
SP6:
SP7:

Relevant External Links for C11orf30 Gene

GeneLoc Exon Structure for
C11orf30
ECgene alternative splicing isoforms for
C11orf30

Expression for C11orf30 Gene

mRNA expression in normal human tissues for C11orf30 Gene

Protein differential expression in normal tissues from HIPED for C11orf30 Gene

This gene is overexpressed in Cervix (44.5) and Peripheral blood mononuclear cells (6.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for C11orf30 Gene



SOURCE GeneReport for Unigene cluster for C11orf30 Gene Hs.352588

genes like me logo Genes that share expression patterns with C11orf30: view

Protein tissue co-expression partners for C11orf30 Gene

Primer Products

  • QuantiTect SYBR Green Assays in human,mouse,rat
  • Pre-validated RT² qPCR Primer Assay in human,mouse,rat
  • QuantiFast Probe-based Assays in human,mouse,rat

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for C11orf30 Gene

Orthologs for C11orf30 Gene

This gene was present in the common ancestor of animals.

Orthologs for C11orf30 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia C15H11orf30 35
  • 95.85 (n)
  • 98.24 (a)
C11orf30 36
  • 97 (a)
OneToOne
dog
(Canis familiaris)
Mammalia C21H11orf30 35
  • 96.04 (n)
  • 98.49 (a)
C11orf30 36
  • 97 (a)
OneToOne
mouse
(Mus musculus)
Mammalia 2210018M11Rik 35
  • 92.53 (n)
  • 95.2 (a)
2210018M11Rik 16
2210018M11Rik 36
  • 94 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia C11H11orf30 35
  • 99.87 (n)
  • 100 (a)
C11orf30 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia RGD1310712 35
  • 91.89 (n)
  • 94.75 (a)
oppossum
(Monodelphis domestica)
Mammalia C11orf30 36
  • 91 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 87 (a)
OneToMany
-- 36
  • 80 (a)
OneToMany
chicken
(Gallus gallus)
Aves C11ORF30 35
  • 80.92 (n)
  • 85.71 (a)
C11orf30 36
  • 85 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia C11orf30 36
  • 82 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia c11orf30 35
  • 71.2 (n)
  • 76.81 (a)
zebrafish
(Danio rerio)
Actinopterygii wufj36b04 35
zgc:56039 35
  • 63.45 (n)
  • 69.57 (a)
C10H11orf30 36
  • 62 (a)
OneToOne
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.10497 35
fruit fly
(Drosophila melanogaster)
Insecta CG15356 36
  • 21 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 36 (a)
OneToOne
Species with no ortholog for C11orf30:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for C11orf30 Gene

ENSEMBL:
Gene Tree for C11orf30 (if available)
TreeFam:
Gene Tree for C11orf30 (if available)

Paralogs for C11orf30 Gene

genes like me logo Genes that share paralogs with C11orf30: view

No data available for Paralogs for C11orf30 Gene

Variants for C11orf30 Gene

Sequence variations from dbSNP and Humsavar for C11orf30 Gene

SNP ID Clin Chr 11 pos Sequence Context AA Info Type MAF
rs8848 -- 76,551,608(+) GTTCT(G/T)CTAGG utr-variant-3-prime
rs1044265 -- 76,551,084(+) TTGAA(A/G)ATAAC utr-variant-3-prime
rs1047196 -- 76,546,251(+) GAATG(C/T)AGGCC missense, reference, intron-variant
rs1047205 -- 76,550,581(+) TTTTT(A/G)CAAAT utr-variant-3-prime
rs1939467 -- 76,532,655(-) CCTTT(C/T)GGAAA intron-variant

Structural Variations from Database of Genomic Variants (DGV) for C11orf30 Gene

Variant ID Type Subtype PubMed ID
nsv528623 CNV Loss 19592680
esv2744790 CNV Deletion 23290073

Variation tolerance for C11orf30 Gene

Residual Variation Intolerance Score: 2.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.33; 41.55% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for C11orf30 Gene

HapMap Linkage Disequilibrium report
C11orf30
Human Gene Mutation Database (HGMD)
C11orf30

PCR Panel Products

  • Copy Number PCR Panels: for C11orf30

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for C11orf30 Gene

Disorders for C11orf30 Gene

MalaCards: The human disease database

(5) MalaCards diseases for C11orf30 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
sporadic breast cancer
  • sporadic breast carcinoma
nasal cavity disease
  • nasal cavity disease nos
esophagitis, eosinophilic, 1
  • eosinophilic esophagitis
nose disease
  • nasal disorder
breast cancer
  • breast cancer, invasive ductal
- elite association

Relevant External Links for C11orf30

Genetic Association Database (GAD)
C11orf30
Human Genome Epidemiology (HuGE) Navigator
C11orf30
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
C11orf30
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
C11orf30
genes like me logo Genes that share disorders with C11orf30: view

No data available for UniProtKB/Swiss-Prot and Genatlas for C11orf30 Gene

Publications for C11orf30 Gene

  1. Co-amplification of CCND1 and EMSY is associated with an adverse outcome in ER-positive tamoxifen-treated breast cancers. (PMID: 19636701) Brown L.A. … Huntsman D.G. (Breast Cancer Res. Treat. 2010) 23 67
  2. Amplification of EMSY, a novel oncogene on 11q13, in high grade ovarian surface epithelial carcinomas. (PMID: 16236351) Brown L.A. … Huntsman D. (Gynecol. Oncol. 2006) 23 67
  3. Binding of EMSY to HP1beta: implications for recruitment of HP1beta and BS69. (PMID: 15947784) Ekblad C.M.S. … Itzhaki L.S. (EMBO Rep. 2005) 23 67
  4. EMSY links the BRCA2 pathway to sporadic breast and ovarian cancer. (PMID: 14651845) Hughes-Davies L. … Kouzarides T. (Cell 2003) 23 67
  5. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 67

Products for C11orf30 Gene

Sources for C11orf30 Gene

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