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Deafness, Autosomal Dominant 5 (DFNA5)

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ICERE-1; Non-Syndromic Hearing Impairment Protein 5; Inversely correlated with estrogen receptor expression 1

Deafness, Autosomal Dominant 5 (DFNA5)
CCC L427
HGNC 2810
MGI 1889850
PubMed 9771715
RGD 727871
UniProt O60443
Wiki DFNA5
DFNA5 is expressed in fetal cochlea, however, its function is not known. Nonsyndromic hearing impairment is associated with a mutation in this gene.ICERE1 had been identified in a differential display study comparing estrogen receptor-positive and estrogen receptor-negative breast carcinomas. The expression of DNFA5 was activated by endogenous p53 in response to various cellular stresses. Sequence analysis and ChIP assays revealed a p53-binding motif in intron 1 of the DFNA5 gene. p53-dependent expression of Dfna5 was observed in the brain and colon in the absence of DNA damage, but the expression of Dfna5 in other tissues was independent of p53 expression. Immunostaining of DFNA5-transfected cells revealed expression predominantly in the cytoplasm, with a subset of cells in the nucleus.

Organism species: Homo sapiens (Human)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a Recombinant Deafness, Autosomal Dominant 5 (DFNA5) Recombinant Protein Customized Service Offer
Antibodies n/a Monoclonal Antibody to Deafness, Autosomal Dominant 5 (DFNA5) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to Deafness, Autosomal Dominant 5 (DFNA5) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for Deafness, Autosomal Dominant 5 (DFNA5) CLIA Kit Customized Service Offer
n/a ELISA Kit for Deafness, Autosomal Dominant 5 (DFNA5) ELISA Kit Customized Service Offer

Organism species: Mus musculus (Mouse)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins RPL427Mu01 Recombinant Deafness, Autosomal Dominant 5 (DFNA5) Positive Control; Immunogen; SDS-PAGE; WB.
Antibodies n/a Monoclonal Antibody to Deafness, Autosomal Dominant 5 (DFNA5) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to Deafness, Autosomal Dominant 5 (DFNA5) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for Deafness, Autosomal Dominant 5 (DFNA5) CLIA Kit Customized Service Offer
n/a ELISA Kit for Deafness, Autosomal Dominant 5 (DFNA5) ELISA Kit Customized Service Offer

Organism species: Rattus norvegicus (Rat)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a Recombinant Deafness, Autosomal Dominant 5 (DFNA5) Recombinant Protein Customized Service Offer
Antibodies n/a Monoclonal Antibody to Deafness, Autosomal Dominant 5 (DFNA5) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to Deafness, Autosomal Dominant 5 (DFNA5) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for Deafness, Autosomal Dominant 5 (DFNA5) CLIA Kit Customized Service Offer
n/a ELISA Kit for Deafness, Autosomal Dominant 5 (DFNA5) ELISA Kit Customized Service Offer
  1. "Nonsyndromic hearing impairment is associated with a mutation in DFNA5."Nat. Genet. 20:194-197(1998) [PubMed] [Europe PMC] [Abstract]
  2. "Complete sequencing and characterization of 21,243 full-length human cDNAs." Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
  3. "The DNA sequence of human chromosome 7." Nature 424:157-164(2003) [PubMed] [Europe PMC] [Abstract]
  4. "Human chromosome 7: DNA sequence and biology." Science 300:767-772(2003) [PubMed] [Europe PMC] [Abstract]
  5. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
  6. "Characterization of a gene that is inversely correlated with estrogen receptor expression (ICERE-1) in breast carcinomas."Eur. J. Biochem. 252:169-177(1998) [PubMed] [Europe PMC] [Abstract]
  7. "The potential role of DFNA5, a hearing impairment gene, in p53-mediated cellular response to DNA damage."J. Hum. Genet. 51:652-664(2006) [PubMed] [Europe PMC] [Abstract]
  8. "Aberrant promoter methylation and tumor suppressive activity of the DFNA5 gene in colorectal carcinoma."Oncogene 27:3624-3634(2008) [PubMed] [Europe PMC] [Abstract]
  9. "Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions."Sci. Signal. 2:RA46-RA46(2009) [PubMed] [Europe PMC] [Abstract]
  10. "Initial characterization of the human central proteome."BMC Syst. Biol. 5:17-17(2011) [PubMed] [Europe PMC] [Abstract]
  11. "The DFNA5 gene, responsible for hearing loss and involved in cancer, encodes a novel apoptosis-inducing protein."Eur. J. Hum. Genet. 19:965-973(2011) [PubMed] [Europe PMC] [Abstract]
  12. "N-terminal acetylome analyses and functional insights of the N-terminal acetyltransferase NatB."Proc. Natl. Acad. Sci. U.S.A. 109:12449-12454(2012) [PubMed] [Europe PMC] [Abstract]