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Ophn1
Gene Detail
Symbol

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


Mapping data(4)
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

HCOP human homology predictions: OPHN1
Protein SuperFamily: Rho GTPase-activating protein, Oligophrenin 1/Graf types
Gene Tree: Ophn1

Human
homologs
OPHN1, oligophrenin 1
Orthology source: HomoloGene

IDs:
NCBI Gene ID: 4983
neXtProt AC: NX_O60890

Human Synonyms: ARHGAP41, MRX60, OPN1

Human Chr (Location): Xq12; chrX:68042344-68433841 (-)  GRCh38.p2

Disease Associations: (1) Diseases Associated with Human OPHN1

Mutations,
alleles, and
phenotypes
All mutations/alleles(5) : Gene trapped(1) Spontaneous(1) Targeted(3)
Incidental mutations (data from APF )
 
Homozygous and hemizygous mice exhibit strain background-dependent premature death, dilated brain ventricles, impaired sperm motility, and abnormal behavior including decreased anxiety and increased activity. Heterozygotes have a wavy coat and vibrissae, are small and have decreased litter sizes.
 
Human Diseases Modeled in Mice Using Ophn1 (1)    Mutations Annotated to Human Diseases (1)   
Interactions
Ophn1 interacts with 409 markers (Mir7-1, Mir7-2, Mir7b, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (25 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)
Other mouse links: Allen Institute   GENSAT   GEO   Expression Atlas
Other vertebrate links: Xenbase ophn1 ; ZFIN ophn1    NEW 
Molecular
reagents
All nucleic(43) cDNA(41) Primer pair(2)
Microarray probesets(4)
Other database
links
VEGA Gene Model OTTMUSG00000018075 (Evidence)
Ensembl Gene Model ENSMUSG00000031214 (Evidence)
Entrez Gene 94190 (Evidence)
UniGene 254336
DFCI TC1578966, TC1592817, TC1609958, TC1670116
DoTS DT.101174951, DT.101316492, DT.101736753, DT.55167886, DT.97381180
NIA Mouse Gene Index U039561
Consensus CDS Project CCDS30295.1
International Mouse Phenotyping Consortium Status Ophn1
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000018075 VEGA Gene Model | MGI Sequence Detail 336749 C57BL/6J ±  kb
transcript OTTMUST00000043616 VEGA | MGI Sequence Detail 2794 Not Applicable 
polypeptide OTTMUSP00000019600 VEGA | MGI Sequence Detail 802 Not Applicable 

For the selected sequences
All sequences(71) RefSeq(6) UniProt(7)
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:222308 Fairfield H, et al., Exome sequencing reveals pathogenic mutations in 91 strains of mice with Mendelian disorders. Genome Res. 2015 Jul;25(7):948-57
All references(43)
Disease annotation references (1)
Other
accession IDs
MGI:2444328, MGI:3720807

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
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last database update
08/18/2015
MGI 6.0
The Jackson Laboratory