UniProt Accession

 DFNA5_HUMAN; O60443; A4D156; B2RAX9; B3KT05; O14590; Q08AQ8; Q9UBV3 

Genbank Protein ID

 AF073308; AF075171; AF131765; AK094714; AK314402; AC003093; CH236948; CH471073; BC125065; AF007790 

Genbank Nucleotide ID

 AAC69324.1; AAC69326.1; AAD20039.1; BAG52917.1; BAG37026.1; AAB83938.1; EAL24246.1; EAW93813.1; AAI25066.1; AAC39635.2 

Protein Name

 Non-syndromic hearing impairment protein 5 

Protein Synonyms/Alias

 Inversely correlated with estrogen receptor expression 1; ICERE-1 

Gene Name

 DFNA5 

Gene Synonyms/Alias

 ICERE1 

Created Date

 July 27, 2013 

Organism

 Homo sapiens (Human) 

NCBI Taxa ID

 9606 

Lysine Modification

Position	Peptide	Type	References
4	****MFAKATRNFLR	ubiquitination	[1]
440	DPTLTPLKDTERFGI	ubiquitination	[2, 3]

Reference

 [1] Refined preparation and use of anti-diglycine remnant (K-ε-GG) antibody enables routine quantification of 10,000s of ubiquitination sites in single proteomics experiments.
 Udeshi ND, Svinkina T, Mertins P, Kuhn E, Mani DR, Qiao JW, Carr SA.
 Mol Cell Proteomics. 2013 Mar;12(3):825-31. [PMID: 23266961]
 [2] Systematic and quantitative assessment of the ubiquitin-modified proteome.
 Kim W, Bennett EJ, Huttlin EL, Guo A, Li J, Possemato A, Sowa ME, Rad R, Rush J, Comb MJ, Harper JW, Gygi SP.
 Mol Cell. 2011 Oct 21;44(2):325-40. [PMID: 21906983]
 [3] Global identification of modular cullin-RING ligase substrates.
 Emanuele MJ, Elia AE, Xu Q, Thoma CR, Izhar L, Leng Y, Guo A, Chen YN, Rush J, Hsu PW, Yen HC, Elledge SJ.
 Cell. 2011 Oct 14;147(2):459-74. [PMID: 21963094] 

Functional Description

 Involved in apoptosis and cell survival. Plays a role in the TP53-regulated cellular response to DNA damage probably by cooperating with TP53. 

Sequence Annotation

  

Keyword

 Alternative splicing; Apoptosis; Complete proteome; Deafness; Non-syndromic deafness; Polymorphism; Reference proteome; Tumor suppressor. 

Sequence Source

 UniProt (SWISSPROT/TrEMBL); GenBank; EMBL 

Protein Length

 496 AA 

Protein Sequence

Gene Ontology

 GO:0005737; C:cytoplasm; IDA:HPA.
 GO:0006915; P:apoptotic process; IDA:UniProtKB.
 GO:0006917; P:induction of apoptosis; IDA:UniProtKB.
 GO:0060113; P:inner ear receptor cell differentiation; IEA:Compara.
 GO:0008285; P:negative regulation of cell proliferation; IDA:UniProtKB.
 GO:0007605; P:sensory perception of sound; TAS:ProtInc. 

Interpro

 IPR007677; Gasdermin. 

Pfam

 PF04598; Gasdermin 

SMART

  

PROSITE

  

PRINTS