Entrez Summary: The protein encoded by this gene may be involved in the transport of receptors from the endoplasmic reticulum (ER) to the cell surface. The encoded protein may also play a role in regulating ER membrane structure. This gene is required for the proper development of retinal rods and photoreceptors, with defects in this gene being associated with retinitis pigmentosa 77. [provided by RefSeq, May 2017].
UniProt Summary: May play a role in intracellular protein transport from the endoplasmic reticulum to the cell surface (By similarity). Required for correct function and survival of retinal photoreceptors (PubMed:27889058). {ECO:0000250|UniProtKB:Q9JM62, ECO:0000269|PubMed:27889058}.
Pfam DomainsGO Terms
Pfam Domains
TB2 DP1 HVA22
GO Terms
rod spherule
detection of light stimulus involved in sensory perception
detection of light stimulus involved in visual perception
detection of visible light
photoreceptor inner segment
clathrin-coated vesicle membrane
detection of light stimulus
apical part of cell
detection of external stimulus
detection of abiotic stimulus
visual perception
sensory perception of light stimulus
response to light stimulus
regulation of intracellular transport
response to radiation
detection of stimulus involved in sensory perception
detection of stimulus
regulation of cellular localization
endoplasmic reticulum membrane
sensory perception
endoplasmic reticulum
response to abiotic stimulus
nervous system process
regulation of transport
system process
CRISPR Data
Compound HitMost Correlated Genes in ChemogenomicsTissues where Essential in the Avana Dataset (DepMap 20Q1)