InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: OTOF

Summary

InnateDB Protein

IDBP-35731.7

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

OTOF

Protein Name

otoferlin

Synonyms

AUNB1; DFNB6; DFNB9; FER1L2; NSRD9;

Species

Homo sapiens

Ensembl Protein

ENSP00000344521

InnateDB Gene

IDBG-35725 (OTOF)

Protein Structure

UniProt Annotation

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}.

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}.

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.

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.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 1 experimentally validated interaction(s) in this database.

Experimentally validated
Total	1 [view]
Protein-Protein	1 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Gene Ontology

Molecular Function

Accession	GO Term
GO:0003674	molecular_function
GO:0005509	calcium ion binding
GO:0005515	protein binding

Biological Process

GO:0007605	sensory perception of sound
GO:0016079	synaptic vesicle exocytosis
GO:0061025	membrane fusion

Cellular Component

GO:0005789	endoplasmic reticulum membrane
GO:0005829	cytosol
GO:0016021	integral component of membrane
GO:0016323	basolateral plasma membrane
GO:0030054	cell junction
GO:0030672	synaptic vesicle membrane