Oligophrenin 1 (OPHN1)

MRX60; OPN1; Mental Retardation,X-linked 60

SPN	U162
HGNC	8148
MGI	2151070
PubMed	16221952
RGD	1563435
UniProt	O60890
Wiki	OPHN1

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. The protein contains a domain typical of RhoGAPs, which modulate cytoskeletal changes. Northern blot analysis demonstrated greatest abundance of the 7.5-kb oligophrenin-1 transcript in RNA from human fetal brain. Fluorescence in situ hybridization indicated that the X;12 translocation breakpoint identified in the patient mapped within the second intron of the OPHN1 gene, resulting in a displacement on the derivative 12 of the first 2 exons, 1 of which contained a putative translation initiation codon.

Reference

"Oligophrenin-1 encodes a rhoGAP protein involved in X-linked mental retardation."
Nature 392:923-926(1998) [PubMed] [Europe PMC] [Abstract]

"Deletion including the oligophrenin-1 gene associated with enlarged cerebral ventricles, cerebellar hypoplasia, seizures and ataxia."
Eur. J. Hum. Genet. 7:541-548(1999) [PubMed] [Europe PMC] [Abstract]

"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. 43:5-9(2000) [PubMed] [Europe PMC] [Abstract]

"Gene diversity patterns at 10 X-chromosomal loci in humans and chimpanzees."
Mol. Biol. Evol. 20:1281-1289(2003) [PubMed] [Europe PMC] [Abstract]

"The DNA sequence of the human X chromosome."
Nature 434:325-337(2005) [PubMed] [Europe PMC] [Abstract]

"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]

"Insertion of 16 amino acids in the BAR domain of the oligophrenin 1 protein causes mental retardation and cerebellar hypoplasia in an Italian family."
Hum. Mutat. 32:E2294-E2307(2011) [PubMed] [Europe PMC] [Abstract]