OPHN1

Identifiers

OPHN1, ARHGAP41, MRX60, OPN1, oligophrenin 1

External IDs

MGI: 2151070 HomoloGene: 1913 GeneCards: OPHN1

Gene location (Human)

Chr.	X chromosome (human)^[1]

Band	No data available	Start	68,042,344 bp^[1]
Band	No data available	End	68,433,913 bp^[1]

Gene location (Mouse)

Chr.	X chromosome (mouse)^[2]

Band	No data available	Start	98,554,277 bp^[2]
Band	No data available	End	98,891,025 bp^[2]

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

^[3]

^[4]

Wikidata

View/Edit Human

View/Edit Mouse

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

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^[7]

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

References

1 2 3 GRCh38: Ensembl release 89: ENSG00000079482 - Ensembl, May 2017
1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000031214 - Ensembl, May 2017
↑ "Human PubMed Reference:".
↑ "Mouse PubMed Reference:".
↑ 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.
↑ 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. PMID 9582072. doi:10.1038/31940.
1 2 "Entrez Gene: OPHN1 oligophrenin 1".

Castellví-Bel S, Milà M (2001). "Genes responsible for nonspecific mental retardation". Mol. Genet. Metab. 72 (2): 104–8. PMID 11161835. doi:10.1006/mgme.2000.3128.
Ramakers GJ (2002). "Rho proteins, mental retardation and the cellular basis of cognition". Trends Neurosci. 25 (4): 191–9. PMID 11998687. doi:10.1016/S0166-2236(00)02118-4.
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. PMID 12805098. doi:10.1093/brain/awg173.
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. PMID 10439959. doi:10.1038/sj.ejhg.5200320.
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. doi:10.1016/S0003-3995(00)00015-0.
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. doi:10.1016/S0304-3835(01)00625-5.
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. PMC 139241 . PMID 12477932. doi:10.1073/pnas.242603899.
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. PMID 12777533. doi:10.1093/molbev/msg134.
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. PMC 1735502 . PMID 12807966. doi:10.1136/jmg.40.6.441.
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. PMID 15026118. doi:10.1016/j.neuroscience.2004.01.007.
Ross MT, Grafham DV, Coffey AJ, et al. (2005). "The DNA sequence of the human X chromosome". Nature. 434 (7031): 325–37. PMC 2665286 . PMID 15772651. doi:10.1038/nature03440.
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. PMID 16221952. doi:10.1212/01.wnl.0000182813.94713.ee.

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

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OPHN1

References

Further reading