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Gene: OPHN1 (oligophrenin 1) Homo sapiens
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Symbol: OPHN1
Name: oligophrenin 1
Description: Exhibits phospholipid binding activity. Involved in several processes, including establishment of epithelial cell apical/basal polarity; neuron differentiation; and regulation of postsynaptic neurotransmitter receptor internalization. Localizes to the glutamatergic synapse. Implicated in X-linked mental retardation with cerebellar hypoplasia and distinctive facial appearance.
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
Orthologs:
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)
Chlorocebus sabaeus (green monkey) : OPHN1 (oligophrenin 1)
Heterocephalus glaber (naked mole-rat) : Ophn1 (oligophrenin 1)
more info ...
Related Pseudogenes: ARHGAP42P3  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38 EnsemblX68,042,344 - 68,433,913 (-)Ensembl
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)
Model


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

Genomics

Comparative Map Data
Position Markers
miRNA Target Status

Expression

RNA-SEQ Expression

Sequence

Nucleotide Sequences
Protein Sequences
Promoters
Clinical Variants

Additional Information

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

RGD Object Information
RGD ID: 1345567
Created: 2005-03-08
Species: Homo sapiens
Last Modified: 2019-12-25
Status: ACTIVE



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