InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: OPHN1

Summary

InnateDB Protein

IDBP-73810.6

Last Modified

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

Gene Symbol

OPHN1

Protein Name

oligophrenin 1

Synonyms

ARHGAP41; MRX60; OPN1;

Species

Homo sapiens

Ensembl Protein

ENSP00000347710

InnateDB Gene

IDBG-73808 (OPHN1)

Protein Structure

UniProt Annotation

Function

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}.

Subcellular Localization

Cell junction, synapse. Cell projection, axon. Cell projection, dendritic spine. Cell projection, dendrite {ECO:0000250}. Cytoplasm {ECO:0000250}. Note=Present in both presynaptic and postsynaptic sites. {ECO:0000250}.

Disease Associations

Mental retardation, X-linked, syndromic, OPHN1-related (MRXSO) [MIM:300486]: A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. MRXSO patients manifest mental retardation associated with cerebellar hypoplasia and distinctive facial dysmorphism. {ECO:0000269PubMed:10439959, ECO:0000269PubMed:21796728, ECO:0000269PubMed:9582072}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Expressed in brain.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 3 experimentally validated interaction(s) in this database.

Experimentally validated
Total	3 [view]
Protein-Protein	3 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Gene Ontology

Molecular Function

Accession	GO Term
GO:0003779	actin binding
GO:0005100	Rho GTPase activator activity
GO:0005515	protein binding
GO:0005543	phospholipid binding
GO:0035255	ionotropic glutamate receptor binding

Biological Process

GO:0006930	substrate-dependent cell migration, cell extension
GO:0007165	signal transduction
GO:0007264	small GTPase mediated signal transduction
GO:0007399	nervous system development
GO:0007411	axon guidance
GO:0030036	actin cytoskeleton organization
GO:0030100	regulation of endocytosis
GO:0032321	positive regulation of Rho GTPase activity
GO:0048488	synaptic vesicle endocytosis
GO:0051056	regulation of small GTPase mediated signal transduction
GO:0051966	regulation of synaptic transmission, glutamatergic
GO:1901799	negative regulation of proteasomal protein catabolic process

Cellular Component

GO:0005622	intracellular
GO:0005737	cytoplasm
GO:0005829	cytosol
GO:0015629	actin cytoskeleton
GO:0030054	cell junction
GO:0030425	dendrite
GO:0043195	terminal bouton
GO:0043197	dendritic spine