Version 5.4
| Homo sapiens Protein: TECTA | |||||||||
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| Summary | |||||||||
| InnateDB Protein | IDBP-244942.5 | ||||||||
| Last Modified | 2014-10-13 [Report errors or provide feedback] | ||||||||
| Gene Symbol | TECTA | ||||||||
| Protein Name | tectorin alpha | ||||||||
| Synonyms | DFNA12; DFNA8; DFNB21; | ||||||||
| Species | Homo sapiens | ||||||||
| Ensembl Protein | ENSP00000376543 | ||||||||
| InnateDB Gene | IDBG-74695 (TECTA) | ||||||||
| Protein Structure |
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| UniProt Annotation | |||||||||
| Function | One of the major non-collagenous components of the tectorial membrane (By similarity). The tectorial membrane is an extracellular matrix of the inner ear that covers the neuroepithelium of the cochlea and contacts the stereocilia bundles of specialized sensory hair cells. Sound induces movement of these hair cells relative to the tectorial membrane, deflects the stereocilia and leads to fluctuations in hair-cell membrane potential, transducing sound into electrical signals. {ECO:0000250}. | ||||||||
| Subcellular Localization | Cell membrane {ECO:0000305}; Lipid-anchor, GPI-anchor {ECO:0000305}; Extracellular side {ECO:0000305}. Secreted, extracellular space, extracellular matrix. Note=Found in the non-collagenous matrix of the tectorial membrane. {ECO:0000250}. | ||||||||
| Disease Associations | Deafness, autosomal dominant, 12 (DFNA12) [MIM:601543]: A form of non-syndromic 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. {ECO:0000269PubMed:10196713, ECO:0000269PubMed:10987647, ECO:0000269PubMed:12162770, ECO:0000269PubMed:15319541, ECO:0000269PubMed:16718611, ECO:0000269PubMed:17661817, ECO:0000269PubMed:20947814, ECO:0000269PubMed:21520338, ECO:0000269PubMed:9590290}. Note=The disease is caused by mutations affecting the gene represented in this entry.Deafness, autosomal recessive, 21 (DFNB21) [MIM:603629]: A form of non-syndromic 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. {ECO:0000269PubMed:12746400, ECO:0000269PubMed:9949200}. Note=The disease is caused by mutations affecting the gene represented in this entry. | ||||||||
| Tissue Specificity | |||||||||
| 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 | |||||||||
| InterPro |
IPR000742
Epidermal growth factor-like domain IPR001507 Zona pellucida domain IPR001846 von Willebrand factor, type D domain IPR002919 Trypsin Inhibitor-like, cysteine rich domain IPR003886 Nidogen, extracellular domain IPR006552 VWC out IPR014853 Uncharacterised domain, cysteine-rich |
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| PFAM |
PF00008
PF00100 PF00094 PF01826 PF06119 PF08742 |
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| PRINTS |
PR00023
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| PIRSF | |||||||||
| SMART |
SM00181
SM00241 SM00216 SM00539 SM00215 SM00832 |
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| TIGRFAMs | |||||||||
| Post-translational Modifications | |||||||||
| Modification | |||||||||
| Cross-References | |||||||||
| SwissProt | O75443 | ||||||||
| PhosphoSite | PhosphoSite-O75443 | ||||||||
| TrEMBL | |||||||||
| UniProt Splice Variant | |||||||||
| Entrez Gene | 7007 | ||||||||
| UniGene | Hs.731790 | ||||||||
| RefSeq | XP_005271710 | ||||||||
| HUGO | HGNC:11720 | ||||||||
| OMIM | 602574 | ||||||||
| CCDS | CCDS8434 | ||||||||
| HPRD | 03985 | ||||||||
| IMGT | |||||||||
| EMBL | AF055114 AF055115 AF055116 AF055117 AF055118 AF055119 AF055120 AF055121 AF055122 AF055123 AF055124 AF055125 AF055126 AF055127 AF055128 AF055129 AF055130 AF055131 AF055132 AF055133 AF055134 AF055135 AF055136 AP000646 AP000826 | ||||||||
| GenPept | AAC26019 | ||||||||