OPHN1

OPHN1
Identifiers
Aliases	OPHN1, ARHGAP41, MRX60, OPN1, oligophrenin 1
External IDs	MGI: 2151070 HomoloGene: 1913 GeneCards: OPHN1
Gene ontology Molecular function • GTPase activator activity • actin binding • ionotropic glutamate receptor binding • phospholipid binding Cellular component • cytoplasm • cytosol • cell projection • dendritic spine • synapse • axon • cell junction • terminal bouton • dendrite • actin cytoskeleton Biological process • regulation of endocytosis • endocytosis • substrate-dependent cell migration, cell extension • nervous system development • axon guidance • positive regulation of GTPase activity • synaptic vesicle endocytosis • negative regulation of proteasomal protein catabolic process • regulation of synaptic transmission, glutamatergic • regulation of small GTPase mediated signal transduction • actin cytoskeleton organization • signal transduction Sources:Amigo / QuickGO
Orthologs
Species	Human	Mouse
Entrez	4983	94190
Ensembl	ENSG00000079482	ENSMUSG00000031214
UniProt	O60890	Q99J31
RefSeq (mRNA)	NM_002547	NM_052976 NM_001313754 NM_001313755 NM_001313756
RefSeq (protein)	NP_002538	NP_001300683 NP_001300684 NP_001300685 NP_443208
Location (UCSC)	Chr X: 68.04 – 68.43 Mb	Chr X: 98.55 – 98.89 Mb
PubMed search

4983

94190

ENSG00000079482

ENSMUSG00000031214

O60890

Q99J31

NM_002547

NM_052976
NM_001313754
NM_001313755
NM_001313756

NP_002538

NP_001300683
NP_001300684
NP_001300685
NP_443208

Oligophrenin-1 is a protein that in humans is encoded by the OPHN1 gene.

Oligophrenin 1 has 25 exons and encodes a Rho-GTPase-activating protein. The Rho proteins are important mediators of intracellular signal transduction, which affects cell migration and cell morphogenesis. Mutations in this gene are responsible for non-specific X-linked intellectual disability (previously called mental retardation), particularly. in association with hypoplastic cerebellar features and commonly congenital strabismus

...
Wikipedia