OPHN1

Oligophrenin 1
Identifiers
Symbols	OPHN1 ; ARHGAP41; MRX60; OPN1
External IDs	OMIM: 300127 MGI: 2151070 HomoloGene: 1913 GeneCards: OPHN1 Gene
Gene ontology Molecular function • actin binding • GTPase activator activity • phospholipid binding • ionotropic glutamate receptor binding Cellular component • cytosol • actin cytoskeleton • cell junction • terminal bouton • dendritic spine Biological process • substrate-dependent cell migration, cell extension • signal transduction • small GTPase mediated signal transduction • nervous system development • axon guidance • actin cytoskeleton organization • regulation of endocytosis • positive regulation of GTPase activity • synaptic vesicle endocytosis • regulation of small GTPase mediated signal transduction • regulation of synaptic transmission, glutamatergic • negative regulation of proteasomal protein catabolic process Sources: Amigo / QuickGO
Orthologs
Species	Human	Mouse
Entrez	4983	94190
Ensembl	ENSG00000079482	ENSMUSG00000031214
UniProt	O60890	Q99J31
RefSeq (mRNA)	NM_002547	NM_052976
RefSeq (protein)	NP_002538	NP_443208
Location (UCSC)	Chr X: 68.04 – 68.43 Mb	Chr X: 98.55 – 98.89 Mb
PubMed search

Oligophrenin-1 is a protein that in humans is encoded by the OPHN1 gene.^[1][2][3]

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^[3]

In 2014 www.OPHN1.org was formed as a patient advocacy and disease community group.

References

1. Bienvenu T, Der-Sarkissian H, Billuart P, Tissot M, Des Portes V, Bruls 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". Eur J Hum Genet 5 (2): 105–9. PMID 9195162.
2. Billuart P, Bienvenu T, Ronce N, des Portes V, Vinet MC, Zemni R, Roest Crollius H, Carrie A, Fauchereau F, Cherry M, Briault S, Hamel B, Fryns JP, Beldjord C, Kahn A, Moraine C, Chelly J (May 1998). "Oligophrenin-1 encodes a rhoGAP protein involved in X-linked mental retardation". Nature 392 (6679): 923–6. doi:10.1038/31940. PMID 9582072.
3. "Entrez Gene: OPHN1 oligophrenin 1".

Further reading

• Castellví-Bel S, Milà M (2001). "Genes responsible for nonspecific mental retardation". Mol. Genet. Metab. 72 (2): 104–8. doi:10.1006/mgme.2000.3128. PMID 11161835.
• Ramakers GJ (2002). "Rho proteins, mental retardation and the cellular basis of cognition". Trends Neurosci. 25 (4): 191–9. doi:10.1016/S0166-2236(00)02118-4. PMID 11998687.
• Bergmann C, Zerres K, Senderek J, et al. (2003). "Oligophrenin 1 (OPHN1) gene mutation causes syndromic X-linked mental retardation with epilepsy, rostral ventricular enlargement and cerebellar hypoplasia". Brain 126 (Pt 7): 1537–44. doi:10.1093/brain/awg173. PMID 12805098.
• Tentler D, Gustavsson P, Leisti J, et al. (1999). "Deletion including the oligophrenin-1 gene associated with enlarged cerebral ventricles, cerebellar hypoplasia, seizures and ataxia". Eur. J. Hum. Genet. 7 (5): 541–8. doi:10.1038/sj.ejhg.5200320. PMID 10439959.
• Billuart P, Chelly J, Carrié A, et al. (2000). "Determination of the gene structure of human oligophrenin-1 and identification of three novel polymorphisms by screening of DNA from 164 patients with non-specific X-linked mental retardation". Ann. Genet. 43 (1): 5–9. doi:10.1016/S0003-3995(00)00015-0. PMID 10818214.
• Pinheiro NA, Caballero OL, Soares F, et al. (2001). "Significant overexpression of oligophrenin-1 in colorectal tumors detected by cDNA microarray analysis". Cancer Lett. 172 (1): 67–73. doi:10.1016/S0304-3835(01)00625-5. PMID 11595131.
• Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
• Kitano T, Schwarz C, Nickel B, Pääbo S (2004). "Gene diversity patterns at 10 X-chromosomal loci in humans and chimpanzees". Mol. Biol. Evol. 20 (8): 1281–9. doi:10.1093/molbev/msg134. PMID 12777533.
• Philip N, Chabrol B, Lossi AM, et al. (2003). "Mutations in the oligophrenin-1 gene (OPHN1) cause X linked congenital cerebellar hypoplasia". J. Med. Genet. 40 (6): 441–6. doi:10.1136/jmg.40.6.441. PMC 1735502. PMID 12807966.
• Xiao J, Neylon CB, Nicholson GA, Furness JB (2004). "Evidence that a major site of expression of the RHO-GTPASE activating protein, oligophrenin-1, is peripheral myelin". Neuroscience 124 (4): 781–7. doi:10.1016/j.neuroscience.2004.01.007. PMID 15026118.
• Ross MT, Grafham DV, Coffey AJ, et al. (2005). "The DNA sequence of the human X chromosome". Nature 434 (7031): 325–37. doi:10.1038/nature03440. PMC 2665286. PMID 15772651.
• Zanni G, Saillour Y, Nagara M, et al. (2006). "Oligophrenin 1 mutations frequently cause X-linked mental retardation with cerebellar hypoplasia". Neurology 65 (9): 1364–9. doi:10.1212/01.wnl.0000182813.94713.ee. PMID 16221952.

In 2014 www.OPHN1.org was formed as a patient advocacy and disease community group.