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Gene: OPHN1 (oligophrenin 1) Homo sapiens
Symbol: OPHN1
Name: oligophrenin 1
Description: This gene encodes a Rho-GTPase-activating protein that promotes GTP hydrolysis of Rho subfamily members. Rho proteins are important mediators of intracellular signal transduction, which affects cell migration and cell morphogenesis. Mutations in this gene are responsible for OPHN1-related X-linked cognitive disability with cerebellar hypoplasia and distinctive facial dysmorhphism. [provided by RefSeq, Jul 2008]
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: ARHGAP41; mental retardation, X-linked 60; MRX60; oligophrenin-1; oligophrenin-1, Rho-GTPase activating protein; OPN1
Mus musculus (house mouse) : Ophn1 (oligophrenin 1)  MGI  Alliance
Rattus norvegicus (Norway rat) : Ophn1 (oligophrenin 1)  Alliance
Chinchilla lanigera (long-tailed chinchilla) : Ophn1 (oligophrenin 1)
Pan paniscus (bonobo/pygmy chimpanzee) : OPHN1 (oligophrenin 1)
Canis lupus familiaris (dog) : OPHN1 (oligophrenin 1)
Ictidomys tridecemlineatus (thirteen-lined ground squirrel) : LOC101977674 (oligophrenin-1)
Sus scrofa (pig) : OPHN1 (oligophrenin 1)
more info ...
Related Pseudogenes: ARHGAP42P3  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Human AssemblyChrPosition (strand)SourceGenome Browsers
GRCh38X68,042,344 - 68,433,841 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X67,262,186 - 67,653,369 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36X67,179,440 - 67,570,372 (-)NCBINCBI36hg18NCBI36
Build 34X67,045,735 - 67,436,668NCBI
CeleraX67,613,664 - 68,004,666 (-)NCBI
Cytogenetic MapXq12NCBI
HuRefX61,092,466 - 61,481,527 (-)NCBIHuRef
CHM1_1X67,154,622 - 67,546,029 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)

Disease Annotations
Gene-Chemical Interaction Annotations
Gene Ontology Annotations
Phenotype Annotations
References - curated
References - uncurated


Comparative Map Data
Position Markers
miRNA Target Status


Nucleotide Sequences
Protein Sequences
Clinical Variants

Additional Information

External Database Links
Nomenclature History
More on OPHN1
Alliance Gene
Ensembl Gene
JBrowse: hg19 hg38
HGNC Report
NCBI Genome Data Viewer

CRRD Object Information
CRRD ID: 1345567
Created: 2005-03-08
Species: Homo sapiens
Last Modified: 2019-07-09
Status: ACTIVE


RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.