OPHN1 information

OPHN1
Identifiers
Aliases	OPHN1, ARHGAP41, MRX60, OPN1, oligophrenin 1, MRXSBL
External IDs	OMIM: 300127; MGI: 2151070; HomoloGene: 1913; GeneCards: OPHN1; OMA:OPHN1 - orthologs
Gene location (Human)
Chr.	X chromosome (human)
End	68,433,913 bp
Gene location (Mouse)
Chr.	X chromosome (mouse)
End	97,934,631 bp
RNA expression pattern
	Top expressed in
	corpus callosum; ; Achilles tendon; ; sural nerve; ; ventricular zone; ; ganglionic eminence; ; amygdala; ; nucleus accumbens; ; caudate nucleus; ; putamen; ; cingulate gyrus;
	Top expressed in
	zygote; ; trigeminal ganglion; ; primary oocyte; ; motor neuron; ; secondary oocyte; ; substantia nigra; ; sciatic nerve; ; Rostral migratory stream; ; internal carotid artery; ; external carotid artery;
	More reference expression data
	n/a
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; glutamatergic synapse;
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; cell junction assembly; establishment of epithelial cell apical/basal polarity; cerebellar granule cell differentiation; cerebral cortex neuron differentiation; neuron differentiation; neuron projection development; regulation of Rho protein signal transduction; cell morphogenesis involved in neuron differentiation; maintenance of postsynaptic specialization structure; regulation of postsynaptic neurotransmitter receptor internalization;
	Sources:Amigo / QuickGO
Orthologs
	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
	Wikidata
View/Edit Human	View/Edit Mouse

Oligophrenin-1 is a protein that in humans is encoded by the OPHN1 gene.^[5]^[6]^[7]

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000079482 – Ensembl, May 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000031214 – Ensembl, May 2017
^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ Bienvenu T, Der-Sarkissian H, Billuart P, Tissot M, Des Portes V, Brüls T, Chabrolle JP, Chauveau P, Cherry M, Kahn A, Cohen D, Beldjord C, Chelly J, Cherif D (Aug 1997). "Mapping of the X-breakpoint involved in a balanced X;12 translocation in a female with mild mental retardation". European Journal of Human Genetics. 5 (2): 105–9. doi:10.1159/000484743. PMID 9195162.
^ Billuart P, Bienvenu T, Ronce N, des Portes V, Vinet MC, Zemni R, Roest Crollius H, Carrié A, Fauchereau F, Cherry M, Briault S, Hamel B, Fryns JP, Beldjord C, Kahn A, Moraine C, Chelly J (April 1998). "Oligophrenin-1 encodes a rhoGAP protein involved in X-linked mental retardation". Nature. 392 (6679): 923–6. Bibcode:1998Natur.392..923B. doi:10.1038/31940. PMID 9582072. S2CID 4355919.
^ "Entrez Gene: OPHN1 oligophrenin 1".

[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000079482 – Ensembl, May 2017

[refGRCm38Ensembl-2] GRCm38: Ensembl release 89: ENSMUSG00000031214 – Ensembl, May 2017

[3] "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[4] "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[pmid9195162-5] Bienvenu T, Der-Sarkissian H, Billuart P, Tissot M, Des Portes V, Brüls T, Chabrolle JP, Chauveau P, Cherry M, Kahn A, Cohen D, Beldjord C, Chelly J, Cherif D (Aug 1997). "Mapping of the X-breakpoint involved in a balanced X;12 translocation in a female with mild mental retardation". European Journal of Human Genetics. 5 (2): 105–9. doi:10.1159/000484743. PMID 9195162.

[pmid9582072-6] Billuart P, Bienvenu T, Ronce N, des Portes V, Vinet MC, Zemni R, Roest Crollius H, Carrié A, Fauchereau F, Cherry M, Briault S, Hamel B, Fryns JP, Beldjord C, Kahn A, Moraine C, Chelly J (April 1998). "Oligophrenin-1 encodes a rhoGAP protein involved in X-linked mental retardation". Nature. 392 (6679): 923–6. Bibcode:1998Natur.392..923B. doi:10.1038/31940. PMID 9582072. S2CID 4355919.

[entrez-7] "Entrez Gene: OPHN1 oligophrenin 1".

OPHN1 information

and 6 Related for: OPHN1 information

OPHN1

Pleckstrin homology domain

RhoGAP domain

Ephrin B1

List of OMIM disorder codes

STARD8