OPHN1

From Wikipedia, the free encyclopedia

Oligophrenin 1

Identifiers

OPHN1; MRX60; OPN1

External IDs

OMIM: 300127 MGI: 2151070 HomoloGene: 1913

Gene ontology
Molecular Function:	• actin binding • GTPase activator activity • Rho GTPase activator activity
Cellular Component:	• intracellular • actin cytoskeleton
Biological Process:	• substrate-bound cell migration, cell extension • signal transduction • nervous system development • axon guidance • actin cytoskeleton organization and biogenesis

Orthologs

Human

Mouse

Refseq

NM_002547 (mRNA)
NP_002538 (protein)

NM_052976 (mRNA)
NP_443208 (protein)

Location

Chr X: 67.18 - 67.57 Mb

Chr X: 94.76 - 95.09 Mb

Pubmed search

[1]

[2]

Oligophrenin 1, also known as OPHN1, is a human gene.^[1]

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 mental retardation.^[1]

[edit] References

^ ^a ^b Entrez Gene: OPHN1 oligophrenin 1.

[edit] 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. 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.
Bienvenu T, Der-Sarkissian H, Billuart P, et al. (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.
Billuart P, Bienvenu T, Ronce N, et al. (1998). "Oligophrenin-1 encodes a rhoGAP protein involved in X-linked mental retardation.". Nature 392 (6679): 923–6. doi:10.1038/31940. PMID 9582072.
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. 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. 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. 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. 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. 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.