Reviewed,
UniProtKB/Swiss-Prot O60443 (DFNA5_HUMAN)
Last modified
June 16, 2009.
Version 65.
History...
Clusters with 100%,
90%,
50% identity |
Documents (5) |
Third-party data |
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Names and origin
| Protein names | Recommended name: Non-syndromic hearing impairment protein 5 Alternative name(s): Inversely correlated with estrogen receptor expression 1 Short name=ICERE-1 | ||||
| Gene names |
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| Organism | Homo sapiens (Human) | ||||
| Taxonomic identifier | 9606 [NCBI] | ||||
| Taxonomic lineage | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Protein attributes
| Sequence length | 496 AA. |
| Sequence status | Complete. |
| Sequence processing | The displayed sequence is not processed. |
| Protein existence | Evidence at protein level. |
General annotation (Comments)
| Tissue specificity | Expressed in cochlea. Low level of expression in heart, brain, placenta, lung, liver, skeletal muscle, kidney and pancreas, with highest expression in placenta. |
| Involvement in disease | Defects in DFNA5 are the cause of non-syndromic sensorineural deafness autosomal dominant type 5 (DFNA5) [MIM:600994]. DFNA5 is a form of sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information. Ref.1 |
| Sequence similarities | Belongs to the gasdermin family. |
| Sequence caution | The sequence AAB83938.1 differs from that shown. Reason: Erroneous gene model prediction. |
Ontologies
| Keywords | |
|---|---|
| Coding sequence diversity | Alternative splicing Polymorphism |
| Disease | Deafness Non-syndromic deafness |
| Gene Ontology (GO) | |
| Biological process | sensory perception of sound Ref.1 Traceable author statement. Source: ProtInc |
| Complete GO annotation... | |
Alternative products
| This entry describes 2 isoforms produced by alternative splicing. [Align] [Select] | ||||||
| Isoform Long (identifier: O60443-1) This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. | ||||||
| Isoform Short (identifier: O60443-2) The sequence of this isoform differs from the canonical sequence as follows: 1-395: Missing. | ||||||
| Note: No experimental confirmation available. |
Sequence annotation (Features)
| Feature key | Position(s) | Length | Description | Graphical view | Feature identifier | ||||
Molecule processing | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Chain | 1 – 496 | 496 | Non-syndromic hearing impairment protein 5 | PRO_0000148178 | |||||
Natural variations | |||||||||
| Alternative sequence | 1 – 395 | 395 | Missing in isoform Short. | VSP_004190 | |||||
| Natural variant | 142 | 1 | P → T: dbSNP rs754554. Ref.6 | VAR_030824 | |||||
| Natural variant | 174 | 1 | M → T: dbSNP rs876306. | VAR_053102 | |||||
| Natural variant | 207 | 1 | V → M: dbSNP rs12540919. | VAR_030825 | |||||
Sequences
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References
| « Hide 'large scale' references | |
| [1] | "Nonsyndromic hearing impairment is associated with a mutation in DFNA5." Van Laer L., Huizing E.H., Verstreken M., van Zuijlen D., Wauters J.G., Bossuyt P.J., Van de Heyning P., McGuirt W.T., Smith R.J.H., Willems P.J., Legan P.K., Richardson G.P., Van Camp G. Nat. Genet. 20:194-197(1998) [PubMed: 9771715] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM LONG), INVOLVEMENT IN DFNA5. Tissue: Cochlea. |
| [2] | Van Laer L., Van Camp G. Submitted (JUN-1998) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM SHORT). |
| [3] | Mei G., Yu W., Gibbs R.A. Submitted (FEB-1999) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM SHORT). Tissue: Brain. |
| [4] | "Complete sequencing and characterization of 21,243 full-length human cDNAs." Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S. Sugano S.Nat. Genet. 36:40-45(2004) [PubMed: 14702039] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM LONG). |
| [5] | "The DNA sequence of human chromosome 7." Hillier L.W., Fulton R.S., Fulton L.A., Graves T.A., Pepin K.H., Wagner-McPherson C., Layman D., Maas J., Jaeger S., Walker R., Wylie K., Sekhon M., Becker M.C., O'Laughlin M.D., Schaller M.E., Fewell G.A., Delehaunty K.D., Miner T.L. Wilson R.K.Nature 424:157-164(2003) [PubMed: 12853948] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]. |
| [6] | "Human chromosome 7: DNA sequence and biology." Scherer S.W., Cheung J., MacDonald J.R., Osborne L.R., Nakabayashi K., Herbrick J.-A., Carson A.R., Parker-Katiraee L., Skaug J., Khaja R., Zhang J., Hudek A.K., Li M., Haddad M., Duggan G.E., Fernandez B.A., Kanematsu E., Gentles S. Tsui L.-C.Science 300:767-772(2003) [PubMed: 12690205] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA], VARIANT THR-142. |
| [7] | "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)." The MGC Project Team Genome Res. 14:2121-2127(2004) [PubMed: 15489334] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM LONG). |
| [8] | "Characterization of a gene that is inversely correlated with estrogen receptor expression (ICERE-1) in breast carcinomas." Thompson D.A., Weigel R.J. Eur. J. Biochem. 252:169-177(1998) [PubMed: 9523727] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 5-496 (ISOFORM LONG). Tissue: Mammary gland. |
| [9] | Thompson D.A. Submitted (AUG-1999) to the EMBL/GenBank/DDBJ databases Cited for: SEQUENCE REVISION TO C-TERMINUS. |
| + | Additional computationally mapped references. |
Cross-references
Sequence databases | |
|---|---|
| AF073308 mRNA. Translation: AAC69324.1. AF075171 mRNA. Translation: AAC69326.1. AF131765 mRNA. Translation: AAD20039.1. AK314402 mRNA. Translation: BAG37026.1. AC003093 Genomic DNA. Translation: AAB83938.1. Sequence problems. CH236948 Genomic DNA. Translation: EAL24246.1. BC125065 mRNA. Translation: AAI25066.1. AF007790 mRNA. Translation: AAC39635.2. Different initiation. | |
| IPI | IPI00029656. IPI00218265. |
| RefSeq | NP_001120925.1. NP_004394.1. |
| UniGene | Hs.520708 |
3D structure databases | |
| ModBase | Search... |
Protein-protein interaction databases | |
| IntAct | O60443. 1 interaction. |
PTM databases | |
| PhosphoSite | O60443. |
Proteomic databases | |
| PRIDE | O60443. |
Genome annotation databases | |
| Ensembl | ENSG00000105928. Homo sapiens. [Contig view] |
| GeneID | 1687. |
| KEGG | hsa:1687. |
Organism-specific databases | |
| GeneCards | GC07M024704. |
| H-InvDB | HIX0017641. |
| HGNC | HGNC:2810. DFNA5. |
| HPA | CAB019306. HPA011326. |
| MIM | 600994. phenotype. 608798. gene. |
| Orphanet | 90635. Deafness, autosomal dominant, nonsyndromic, sensorineural, type DFNA. |
| PharmGKB | PA27281. |
| GenAtlas | Search... |
Phylogenomic databases | |
| HOGENOM | O60443. |
| HOVERGEN | O60443. |
| OMA | O60443. CLLQGKH. |
Gene expression databases | |
| ArrayExpress | O60443. |
| Bgee | O60443. |
| CleanEx | HS_DFNA5. |
| GermOnline | ENSG00000105928. Homo sapiens. |
Family and domain databases | |
| InterPro | IPR007677. DFNA5. [Graphical view] |
| Pfam | PF04598. Gasdermin. 1 hit. [Graphical view] |
| ProtoNet | Search... |
Other Resources | |
| NextBio | 6920. |
| SOURCE | Search... |
Entry information
| Entry name | DFNA5_HUMAN | ||||||||
| Accession | Primary (citable) accession number: O60443 Secondary accession number(s): A4D156 Q9UBV3 | ||||||||
| Entry history |
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| Entry status | Reviewed (UniProtKB/Swiss-Prot) | ||||||||
| Annotation project | HPI (Human Proteome Initiative) | ||||||||
Relevant documents
| Human chromosome 7 Human chromosome 7: entries, gene names and cross-references to MIM |
| Human entries with polymorphisms or disease mutations List of human entries with polymorphisms or disease mutations |
| Human polymorphisms and disease mutations Index of human polymorphisms and disease mutations |
| MIM cross-references Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot |
| SIMILARITY comments Index of protein domains and families |

Clusters with


