Search
otoferlin (Fer-1-like protein 2, OTOF, FER1L2)
Function:
- role in Ca+2-triggered synaptic vesicle-plasma membrane fusion (putative)
Structure:
- belongs to the ferlin family
- contains 4 C2 domains
Compartment: membrane
Alternative splicing: named isoforms=4
Expression:
- isoform 1 & 3 are found in adult brain
- isoform 2 is expressed in fetus & in adult brain, heart, placenta, skeletal muscle & kidney
Pathology:
- defects in OTOF are the cause of nonsyndromic autosomal recessive deafness 9
General
membrane protein
Properties
SIZE: MW = 227 kD
entity length = 1997 aa
COMPARTMENT: cellular membrane
MOTIF: C2 domain {241-338}
MOTIF: binding site
FOR-BINDING-OF: phospholipid
Ca+2-binding site
C2 domain {404-514}
MOTIF: binding site
FOR-BINDING-OF: phospholipid
Ca+2-binding site
C2 3 {947-1052}
lysine-rich region {1303-1310}
MOTIF: lysine residue (SEVERAL)
glutamate-rich region {1314-1320}
MOTIF: glutamate residue (SEVERAL)
C2 4 {1479-1577}
transmembrane domain {1964-1984}
Database Correlations
OMIM correlations
MORBIDMAP 603681
UniProt Q9HC10
References
UniProt :accession Q9HC10