OPHN1

Gene Information

Official Symbol: OPHN1
Official Name: oligophrenin 1
Aliases and Previous Symbols: N/A
Entrez ID: 4983
UniProt: O60890
Interactions: BioGRID
PubMed articles: Open PubMed
OMIM: Open OMIM

Function Summary

Entrez Summary: This gene encodes a Rho-GTPase-activating protein that promotes GTP hydrolysis of Rho subfamily members. Rho proteins are important mediators of intracellular signal transduction, which affects cell migration and cell morphogenesis. Mutations in this gene are responsible for OPHN1-related X-linked cognitive disability with cerebellar hypoplasia and distinctive facial dysmorhphism. [provided by RefSeq, Jul 2008].
UniProt Summary: Stimulates GTP hydrolysis of members of the Rho family. Its action on RHOA activity and signaling is implicated in growth and stabilization of dendritic spines, and therefore in synaptic function. Critical for the stabilization of AMPA receptors at postsynaptic sites. Critical for the regulation of synaptic vesicle endocytosis at presynaptic terminals. Required for the localization of NR1D1 to dendrites, can suppress its repressor activity and protect it from proteasomal degradation (By similarity). {ECO:0000250}.

Pfam Domains GO Terms

CRISPR Data

Compound Hit Most Correlated Genes in Chemogenomics Tissues where Essential in the Avana Dataset (DepMap 20Q1)

Global Fraction of Cell Lines Where Essential: 0/694

Tissue	Fraction Of Cell Lines Where Essential
1290807.0	0/1
909776.0	0/1
bile duct	0/28
blood	0/26
bone	0/26
breast	0/30
central nervous system	0/49
cervix	0/4
colorectal	0/17
esophagus	0/11
fibroblast	0/1
gastric	0/14
kidney	0/18
liver	0/19
lung	0/72
lymphocyte	0/16
ovary	0/25
pancreas	0/22
peripheral nervous system	0/15
plasma cell	0/12
prostate	0/1
skin	0/20
soft tissue	0/9
thyroid	0/2
upper aerodigestive	0/22
urinary tract	0/28
uterus	0/5

Essentiality in NALM6

Essentiality Rank: 9444
Expression level (log2 read counts): 4.77

Expression Distribution

Screen	Score
∆-9-Tetrahydrocannabinol 30μM R08 exp445	1.7
Beta-Estradiol 0.55μM R07 exp425	1.72
Taxol 0.002μM R01 exp54	1.77

maintenance of postsynaptic specialization structure
cerebellar granular layer formation
cerebellar granule cell differentiation
cerebellar granular layer morphogenesis
substrate-dependent cell migration, cell extension
regulation of postsynaptic neurotransmitter receptor internalization
cerebellar granular layer development
maintenance of synapse structure
establishment of epithelial cell apical/basal polarity
postsynaptic density organization
postsynaptic specialization organization
polarized epithelial cell differentiation
cell differentiation in hindbrain
establishment of apical/basal cell polarity
cerebellar cortex formation
establishment of monopolar cell polarity
establishment or maintenance of monopolar cell polarity
cerebral cortex neuron differentiation
substrate-dependent cell migration
cerebellar cortex morphogenesis
establishment of epithelial cell polarity
ionotropic glutamate receptor binding
cerebellum morphogenesis
hindbrain morphogenesis
morphogenesis of a polarized epithelium
synaptic vesicle endocytosis
presynaptic endocytosis
cellular component maintenance
establishment or maintenance of epithelial cell apical/basal polarity
cerebellar cortex development
establishment or maintenance of bipolar cell polarity
terminal bouton
establishment or maintenance of apical/basal cell polarity
synaptic vesicle recycling
regulation of receptor internalization
negative regulation of proteasomal protein catabolic process
regulation of synaptic transmission, glutamatergic
negative regulation of proteolysis involved in cellular protein catabolic process
negative regulation of cellular protein catabolic process
postsynapse organization