InnateDB Protein
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IDBP-35729.7
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Last Modified
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2014-10-13 [Report errors or provide feedback]
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Gene Symbol
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OTOF
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Protein Name
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otoferlin
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Synonyms
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AUNB1; DFNB6; DFNB9; FER1L2; NSRD9;
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Species
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Homo sapiens
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Ensembl Protein
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ENSP00000345137
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InnateDB Gene
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IDBG-35725 (OTOF)
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Protein Structure
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Function |
Key calcium ion sensor involved in the Ca(2+)-triggered synaptic vesicle-plasma membrane fusion and in the control of neurotransmitter release at these output synapses. Interacts in a calcium-dependent manner to the presynaptic SNARE proteins at ribbon synapses of cochlear inner hair cells (IHCs) to trigger exocytosis of neurotransmitter. Also essential to synaptic exocytosis in immature outer hair cells (OHCs). May also play a role within the recycling of endosomes (By similarity). {ECO:0000250}.
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Subcellular Localization |
Cytoplasmic vesicle, secretory vesicle, synaptic vesicle membrane {ECO:0000250}; Single-pass type II membrane protein {ECO:0000250}. Basolateral cell membrane {ECO:0000250}; Single-pass type II membrane protein {ECO:0000250}. Endoplasmic reticulum membrane {ECO:0000250}; Single-pass type II membrane protein {ECO:0000250}. Cell membrane {ECO:0000250}; Single-pass type II membrane protein {ECO:0000250}. Note=Detected at basolateral cell membrane with synaptic vesicles surrounding the ribbon and at the presynaptic plasma membrane in the inner hair cells (IHCs). Colocalizes with GPR25 and RAB8B in inner hair cells (By similarity). {ECO:0000250}.
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Disease Associations |
Deafness, autosomal recessive, 9 (DFNB9) [MIM:601071]: 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:10192385, ECO:0000269PubMed:12127154, ECO:0000269PubMed:16097006, ECO:0000269PubMed:16283880, ECO:0000269PubMed:16371502}. Note=The disease is caused by mutations affecting the gene represented in this entry.Auditory neuropathy, autosomal recessive, 1 (AUNB1) [MIM:601071]: A form of sensorineural hearing loss with absent or severely abnormal auditory brainstem response, in the presence of normal cochlear outer hair cell function and normal otoacoustic emissions. Auditory neuropathies result from a lesion in the area including the inner hair cells, connections between the inner hair cells and the cochlear branch of the auditory nerve, the auditory nerve itself and auditory pathways of the brainstem. In some cases AUNB1 phenotype can be temperature sensitive. {ECO:0000269PubMed:16371502, ECO:0000269PubMed:18381613}. Note=The disease is caused by mutations affecting the gene represented in this entry.
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Tissue Specificity |
Isoform 1 and isoform 3 are found in adult brain. Isoform 2 is expressed in the fetus and in adult brain, heart, placenta, skeletal muscle and kidney.
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Comments |
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Number of Interactions
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This gene and/or its encoded proteins are associated with 1 experimentally validated interaction(s) in this database.
Experimentally validated |
Total |
1
[view]
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Protein-Protein |
1
[view]
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Protein-DNA |
0
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Protein-RNA |
0
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DNA-DNA |
0
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RNA-RNA |
0
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DNA-RNA |
0
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Molecular Function |
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Biological Process |
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Cellular Component |
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PDB ID |
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InterPro |
IPR000008
C2 domain
IPR012561
Ferlin B-domain
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PFAM |
PF00168
PF08150
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PRINTS |
PR00360
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PIRSF |
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SMART |
SM00239
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TIGRFAMs |
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Modification |
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SwissProt |
Q9HC10
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PhosphoSite |
PhosphoSite-Q9HC10
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TrEMBL |
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UniProt Splice Variant |
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Entrez Gene |
9381
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UniGene |
Hs.91608
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RefSeq |
NP_004793
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HUGO |
HGNC:8515
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OMIM |
603681
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CCDS |
CCDS1726
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HPRD |
04727
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IMGT |
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EMBL |
AC093378
AC108070
AF107403
AF183185
AF183186
AF183187
AK296272
CH471053
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GenPept |
AAD26117
AAG12991
AAG12992
AAG17468
AAY15083
BAG58982
EAX00684
EAX00686
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