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 rhesus macaque; 1 cattle; 1 dog; 1 chicken

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:67262186-67653299 (-)  GRCh37.p10
Disease Associations		(1) Diseases Associated with Human OPHN1

Alleles and phenotypes

All alleles(4) : Targeted(3) Gene trapped(1)
 

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)   

Gene Ontology (GO) classifications

All GO classifications: (23 annotations)

Process	actin cytoskeleton organization, endocytosis, ...
Component	actin cytoskeleton, cell junction, ...
Function	actin binding, cytoskeletal adaptor activity, ...

External Resources: FuncBase

Expression

Literature Summary: (3 records)
Data Summary: Results (92)    Tissues (57)    Images (21)
Theiler Stages: 17, 19, 20, 22, 23, 24, 26, 28

Assay Type	Results
Immunohistochemistry	10
RNA in situ	62
Western blot	12
RT-PCR	8

cDNA source data(39)
External Resources: Allen Institute   GENSAT   GEO   ArrayExpress

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 Knockout Project Status	Ophn1

Sequences

Length	Strain/Species
genomic	OTTMUSG00000018075	VEGA Gene Model | MGI Sequence Detail	336749	C57BL/6J
transcript	OTTMUST00000043613	VEGA | MGI Sequence Detail	7170	Not Applicable
polypeptide	OTTMUSP00000019598	VEGA | MGI Sequence Detail	802	Not Applicable

All sequences(66) RefSeq(2) UniProt(7)

Polymorphisms

SNPs(847 from dbSNP Build 128)

Protein-related information

Resource	ID	Description
InterPro	IPR013606	IRSp53/MIM homology domain (IMD)
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:180824 Sel S, et al., Oligophrenin-1 (Ophn1) is expressed in mouse retinal vessels. Gene Expr Patterns. 2012 Jan;12(1-2):63-7
All references(39)

Other accession IDs

MGI:2444328