Version 5.4
Homo sapiens Gene: OPHN1
Summary
InnateDB Gene IDBG-73808.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol OPHN1
Gene Name oligophrenin 1
Synonyms ARHGAP41; MRX60; OPN1
Species Homo sapiens
Ensembl Gene ENSG00000079482
Encoded Proteins
IDBP-73810
oligophrenin 1
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary 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 mental retardation with cerebellar hypoplasia and distinctive facial dysmorhphism. [provided by RefSeq, Jul 2008]
Gene Information
Type Protein coding
Genomic Location Chromosome X:68042344-68433913
Strand Reverse strand
Band q12
Transcripts
ENST00000355520 ENSP00000347710
ENST00000484842
ENST00000467444
ENST00000486068
ENST00000491714
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 3 experimentally validated interaction(s) in this database.
Experimentally validated
Total 3 [view]
Protein-Protein 3 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
GO:0003779 actin binding
GO:0005100 Rho GTPase activator activity
GO:0005515 protein binding
GO:0005543 phospholipid binding
GO:0035255 ionotropic glutamate receptor binding
Biological Process
GO:0006930 substrate-dependent cell migration, cell extension
GO:0007165 signal transduction
GO:0007264 small GTPase mediated signal transduction
GO:0007399 nervous system development
GO:0007411 axon guidance
GO:0030036 actin cytoskeleton organization
GO:0030100 regulation of endocytosis
GO:0032321 positive regulation of Rho GTPase activity
GO:0048488 synaptic vesicle endocytosis
GO:0051056 regulation of small GTPase mediated signal transduction
GO:0051966 regulation of synaptic transmission, glutamatergic
GO:1901799 negative regulation of proteasomal protein catabolic process
Cellular Component
GO:0005622 intracellular
GO:0005737 cytoplasm
GO:0005829 cytosol
GO:0015629 actin cytoskeleton
GO:0030054 cell junction
GO:0030425 dendrite
GO:0043195 terminal bouton
GO:0043197 dendritic spine
Orthologs
Species
Mus musculus
Gene ID
Gene Order
ENSMUSG00000031214
View Gene Order
Pathways
NETPATH
REACTOME
REACT_11051
Rho GTPase cycle pathway
REACT_11044
Signaling by Rho GTPases pathway
REACT_111102
Signal Transduction pathway
KEGG
INOH
PID NCI
rhoa_reg_pathway
Regulation of RhoA activity
Cross-References
SwissProt
TrEMBL
UniProt Splice Variant
Entrez Gene
UniGene Hs.128824
RefSeq NM_002547 XM_006724652
HUGO
OMIM
CCDS CCDS14388
HPRD 02130
IMGT
EMBL
GenPept
RNA Seq Atlas

If you use InnateDB for your research, please cite the following publication:

Breuer et al., InnateDB: systems biology of innate immunity and beyond - recent updates and continuing curation. Nucl. Acids Res. (2013) 41 (D1) 

InnateDB is being developed jointly by the Brinkman Laboratory (Simon Fraser University, British Columbia, Canada), the Hancock Laboratory (University of British Columbia, Vancouver, British Columbia) and the Lynn EMBL Australia Group (South Australian Health & Medical Research Institute and Flinders University, Adelaide, Australia).

Funding is currently provided by Allergen and EMBL Australia. Previous funding has been provided by Genome Canada, the Foundation for the National Institutes of Health through the Grand Challenges in Global Health initiative and by Teagasc. InnateDB curated interactions are licensed under the Design Science License. All other data is licensed under the terms of the originating database. Contact: innatedb-mail@sfu.ca