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Ophn1
Gene Detail
Symbol

Name
ID
Ophn1
oligophrenin 1
MGI:2151070
Synonyms
C130037N19Rik
Feature Type
protein coding gene
Genetic Map
Chromosome X
42.94 cM, cytoband C2
Detailed Genetic Map ± 1 cM


Mapping data(3)
Sequence Map
ChrX:98554277-98891025 bp, - strand
From VEGA annotation of GRCm38

  336749 bp   ±  kb flank

VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer


Mouse Genome Browser
Vertebrate
homology
HomoloGene:1913  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 cattle; 1 dog; 1 chicken; 1 western clawed frog

Protein SuperFamily: Rho GTPase-activating protein, Oligophrenin 1/Graf types
Gene Tree: Ophn1

Human
homologs
Human Homolog OPHN1, oligophrenin 1
NCBI Gene ID 4983
neXtProt AC  NX_O60890
Human Synonyms  ARHGAP41, MRX60, OPN1
Human Chr (Location)  Xq12; chrX:68042344-68433647 (-)  GRCh38
Disease Associations  (1) Diseases Associated with Human OPHN1
Mutations,
alleles, and
phenotypes
All mutations/alleles(4) : Gene trapped(1) Targeted(3)
Incidental mutations (data from APF )
 
Mice homozygous for a null allele exhibit some premature death, dilated lateral and third ventricle, abnormal dendrite morphology, and abnormal behavior including decreased anxiety and aggression and increased activity and exploration.
 
Human Diseases Modeled Using Mouse Ophn1 (1)    Alleles Annotated to Human Diseases(1)   
Interactions
Ophn1 interacts with 410 markers (Mir7-1, Mir7-2, Mir7b, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (27 annotations)
Process actin cytoskeleton organization, endocytosis, ...
Component actin cytoskeleton, cell, ...
Function actin binding, GTPase activator activity, ...
External Resources: FuncBase
Expression
Literature Summary: (3 records)
Data Summary: Results (92)    Tissues (59)    Images (21)    Tissue x Stage Matrix (view)
Assay TypeResults
Immunohistochemistry 10
RNA in situ 62
Western blot 12
RT-PCR 8
cDNA source data(39)
External Resources: Allen Institute   GENSAT   GEO   Expression Atlas
Molecular
reagents
All nucleic(43) cDNA(41) Primer pair(2)
Microarray probesets(4)
Other database
links
VEGA Gene ModelOTTMUSG00000018075 (Evidence)
Ensembl Gene ModelENSMUSG00000031214 (Evidence)
Entrez Gene94190 (Evidence)
UniGene254336
DFCITC1578966, TC1670116, TC1609958, TC1592817
DoTSDT.101736753, DT.55167886, DT.101174951, DT.101316492, DT.97381180
NIA Mouse Gene IndexU039561
Consensus CDS ProjectCCDS30295.1
International Mouse Knockout Project StatusOphn1
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000018075 VEGA Gene Model | MGI Sequence Detail 336749 C57BL/6J ±  kb
transcript OTTMUST00000043613 VEGA | MGI Sequence Detail 7170 Not Applicable 
polypeptide OTTMUSP00000019598 VEGA | MGI Sequence Detail 802 Not Applicable 

For the selected sequences
All sequences(74) RefSeq(6) UniProt(11)
Polymorphisms
SNPs within 2kb(1023 from dbSNP Build 137)    SNPs within 2kb including multiple locations(1027)
Protein-related
information
ResourceIDDescription
InterPro IPR001849 Pleckstrin homology domain
InterPro IPR011993 Pleckstrin homology-like domain
InterPro IPR000198 Rho GTPase-activating protein domain
InterPro IPR008936 Rho GTPase activation protein
Protein Ontology PR:000011648 oligophrenin-1
References
(Earliest) J:80000 The FANTOM Consortium and The RIKEN Genome Exploration Research Group Phase I & II Team, Analysis of the mouse transcriptome based on functional annotation of 60,770 full-length cDNAs. Nature. 2002;420:563-573
(Latest) J:195607 Powell AD, et al., Rapid reversal of impaired inhibitory and excitatory transmission but not spine dysgenesis in a mouse model of mental retardation. J Physiol. 2012 Feb 15;590(Pt 4):763-76
All references(41)
Disease annotation references (1)
Other
accession IDs
MGI:2444328

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
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last database update
11/18/2014
MGI 5.20
The Jackson Laboratory