Version 5.4
| Mus musculus Protein: Dfnb59 | |||||
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| Summary | |||||
| InnateDB Protein | IDBP-182154.6 | ||||
| Last Modified | 2014-10-13 [Report errors or provide feedback] | ||||
| Gene Symbol | Dfnb59 | ||||
| Protein Name | deafness, autosomal recessive 59 (human) | ||||
| Synonyms | |||||
| Species | Mus musculus | ||||
| Ensembl Protein | ENSMUSP00000097566 | ||||
| InnateDB Gene | IDBG-182150 (Dfnb59) | ||||
| Protein Structure |
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| UniProt Annotation | |||||
| Function | Essential in the activity of auditory pathway neurons. | ||||
| Subcellular Localization | |||||
| Disease Associations | |||||
| Tissue Specificity | In ear, it is detected in the organ of Corti and the spiral ganglion within the cochlea in the sensory areas of the vestibule (cristae ampullares of the semicircular ducts, and maculae of the saccule and utricle) and in the first 3 relays (cochlear nuclei, superior olivary complex and inferior colliculus) of the afferent auditory pathway. In the afferent auditory pathway, it is present in the cell bodies of neurons but not in fiber bundles such as the trapezoid body in the brainstem. Also detected in spiral ganglion cells, which form the auditory nerve and project to the cochlear nuclei in the brainstem. Also present in the cochlear nuclei, the superior olive and the inferior colliculus (at protein level). Expressed in all the adult organs tested: brain, eye, inner ear, heart, lung, kidney, liver, intestine, testis and weakly in skeletal muscle. {ECO:0000269PubMed:16804542}. | ||||
| Comments | |||||
| Interactions | |||||
| Number of Interactions |
This gene and/or its encoded proteins are associated with 0 experimentally validated interaction(s) in this database.
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| Gene Ontology | |||||
Molecular Function |
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| Biological Process |
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| Cellular Component |
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| Protein Structure and Domains | |||||
| PDB ID | MGI:2685847 | ||||
| InterPro |
IPR007677
Gasdermin |
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| PFAM |
PF04598
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| PRINTS | |||||
| PIRSF | |||||
| SMART | |||||
| TIGRFAMs | |||||
| Post-translational Modifications | |||||
| Modification | |||||
| Cross-References | |||||
| SwissProt | Q0ZLH2 | ||||
| PhosphoSite | PhosphoSite- | ||||
| TrEMBL | B0R0L9 | ||||
| UniProt Splice Variant | |||||
| Entrez Gene | 381375 | ||||
| UniGene | Mm.488660 | ||||
| RefSeq | NP_001074180 | ||||
| MGI ID | |||||
| MGI Symbol | Dfnb59 | ||||
| OMIM | |||||
| CCDS | CCDS38153 | ||||
| HPRD | |||||
| IMGT | |||||
| EMBL | AL928867 DQ365828 | ||||
| GenPept | ABC94895 | ||||