InnateDB: Systems Biology of the Innate Immune Response

Mus musculus Protein: Otof

Summary

InnateDB Protein

IDBP-251077.6

Last Modified

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

Gene Symbol

Otof

Protein Name

otoferlin

Synonyms

Species

Mus musculus

Ensembl Protein

ENSMUSP00000110395

InnateDB Gene

IDBG-145565 (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. {ECO:0000269PubMed:17055430, ECO:0000269PubMed:18287496, ECO:0000269PubMed:18772196}.

Subcellular Localization

Cytoplasmic vesicle, secretory vesicle, synaptic vesicle membrane; Single-pass type II membrane protein. Basolateral cell membrane; Single-pass type II membrane protein. Endoplasmic reticulum membrane; Single-pass type II membrane protein. Cell membrane; Single-pass type II membrane protein. Note=Detected at basolateral cell membrane with synaptic vesicles surrounding the ribbon and at the presynaptic plasma membrane in the inner hair cells (IHCs) at postnatal day 30 (P30). Colocalizes with GPR25 and RAB8B in inner hair cells.

Disease Associations

Tissue Specificity

Isoform 1 is expressed in cochlea and brain. Expressed in the cochlear and vestibular hair cells. Expressed in both inner and outer hair cells (IHCs and OHCs) and cochlear ganglions neurons at postnatal day 2 (P2) and 6 (P6). Expressed only in IHCs at postnatal day 60 (P60) (at protein level). Strongly expressed in brain and inner ear. In the inner ear, it is mainly expressed in the cochlear IHC and vestibular type I sensory hair cells. Weakly expressed in eye, heart, skeletal muscle, liver, kidney, lung and testis. {ECO:0000269PubMed:10192385, ECO:0000269PubMed:17055430, ECO:0000269PubMed:17229086, ECO:0000269PubMed:18772196}.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 0 experimentally validated interaction(s) in this database.
They are also associated with 1 interaction(s) predicted by orthology.

Predicted by orthology
Total	1 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0005509	calcium ion binding
GO:0005515	protein binding
GO:0035612	AP-2 adaptor complex binding

Biological Process

GO:0007605	sensory perception of sound
GO:0016079	synaptic vesicle exocytosis

Cellular Component

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