Entrez Summary: This gene encodes a protein that belongs to the serine protease family. The encoded protein contains a serine protease domain, a transmembrane domain, an LDL receptor-like domain, and a scavenger receptor cysteine-rich domain. Serine proteases are known to be involved in a variety of biological processes, whose malfunction often leads to human diseases and disorders. This gene was identified by its association with both congenital and childhood onset autosomal recessive deafness. This gene is expressed in fetal cochlea and many other tissues, and is thought to be involved in the development and maintenance of the inner ear or the contents of the perilymph and endolymph. This gene was also identified as a tumor-associated gene that is overexpressed in ovarian tumors. Alternatively spliced transcript variants have been described. [provided by RefSeq, Jan 2012].
UniProt Summary: Probable serine protease that plays a role in hearing. Acts as a permissive factor for cochlear hair cell survival and activation at the onset of hearing and is required for saccular hair cell survival (By similarity). Activates ENaC (in vitro). {ECO:0000250, ECO:0000269|PubMed:12393794}.
Pfam DomainsGO Terms
Pfam Domains
DUF1986
Trypsin
SRCR
Ldl recept a
GO Terms
cellular sodium ion homeostasis
sodium ion homeostasis
sodium channel regulator activity
scavenger receptor activity
cellular monovalent inorganic cation homeostasis
monovalent inorganic cation homeostasis
sensory perception of sound
serine-type endopeptidase activity
sensory perception of mechanical stimulus
neuronal cell body
endocytosis
cellular metal ion homeostasis
metal ion homeostasis
cellular cation homeostasis
cellular ion homeostasis
import into cell
cation homeostasis
inorganic ion homeostasis
cellular chemical homeostasis
ion homeostasis
cellular homeostasis
endoplasmic reticulum membrane
sensory perception
endoplasmic reticulum
chemical homeostasis
proteolysis
nervous system process
homeostatic process
vesicle-mediated transport
system process
CRISPR Data
Compound HitMost Correlated Genes in ChemogenomicsTissues where Essential in the Avana Dataset (DepMap 20Q1)