InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: OTOG

Summary

InnateDB Protein

IDBP-230744.6

Last Modified

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

Gene Symbol

OTOG

Protein Name

otogelin

Synonyms

Species

Homo sapiens

Ensembl Protein

ENSP00000382323

InnateDB Gene

IDBG-34243 (OTOG)

Protein Structure

UniProt Annotation

Function

Glycoprotein specific to acellular membranes of the inner ear. May be required for the anchoring of the otoconial membranes and cupulae to the underlying neuroepithelia in the vestibule. May be involved in the organization and/or stabilization of the fibrillar network that compose the tectorial membrane in the cochlea. May play a role in mechanotransduction processes (By similarity). {ECO:0000250}.

Subcellular Localization

Apical cell membrane {ECO:0000250}; Peripheral membrane protein {ECO:0000250}; Extracellular side {ECO:0000250}. Secreted, extracellular space {ECO:0000250}. Note=Found in fiber-like structures during the maturation process of the tectorial membrane. {ECO:0000250}.

Disease Associations

Deafness, autosomal recessive, 18B (DFNB18B) [MIM:614945]: A form of non-syndromic deafness characterized by a moderate hearing impairment, which can be associated with vestibular dysfunction, and a flat to shallow "U" or slightly downsloping shaped audiograms. {ECO:0000269PubMed:23122587}. 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 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:0005198	structural molecule activity
GO:0005515	protein binding
GO:0046556	alpha-L-arabinofuranosidase activity

Biological Process

GO:0007605	sensory perception of sound
GO:0008344	adult locomotory behavior
GO:0046373	L-arabinose metabolic process

Cellular Component

GO:0005578	proteinaceous extracellular matrix
GO:0005615	extracellular space
GO:0005829	cytosol
GO:0016324	apical plasma membrane

Protein Structure and Domains

PDB ID

InterPro

IPR000742 Epidermal growth factor-like domain
IPR001846 von Willebrand factor, type D domain
IPR002919 Trypsin Inhibitor-like, cysteine rich domain
IPR006207 Cystine knot, C-terminal
IPR006552 VWC out
IPR007934 Alpha-L-arabinofuranosidase B
IPR014853 Uncharacterised domain, cysteine-rich
IPR029034 Cystine-knot cytokine

PFAM

PF00008
PF00094
PF01826
PF05270
PF08742

PRINTS

PIRSF

SMART

SM00181
SM00216
SM00041
SM00215
SM00832

TIGRFAMs

Post-translational Modifications

Modification

Cross-References

SwissProt

Q6ZRI0