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Gene

ophn1

ID
ZDB-GENE-040718-464
Name
oligophrenin 1
Symbol
ophn1 Nomenclature History
Previous Names
  • zgc:92603
Type
protein_coding_gene
Location
Chr: 5 Mapping Details/Browsers
Description
Predicted to enable GTPase activator activity. Predicted to act upstream of or within signal transduction. Human ortholog(s) of this gene implicated in X-linked mental retardation with cerebellar hypoplasia and distinctive facial appearance. Orthologous to human OPHN1 (oligophrenin 1).
Genome Resources
Note
None
Comparative Information
Expression
All Expression Data
1 figure from Thisse et al., 2004
Cross-Species Comparison
High Throughput Data
Thisse Expression Data
Wild Type Expression Summary
Phenotype
All Phenotype Data
No data available
Cross-Species Comparison
Alliance
Phenotype Summary
Mutations
Mutants
Sequence Targeting Reagents
Human Disease
Associated With ophn1 Human Ortholog
Disease Ontology Term Multi-Species Data OMIM Term OMIM Phenotype ID
X-linked mental retardation with cerebellar hypoplasia and distinctive facial appearance Alliance Intellectual developmental disorder, X-linked syndromic, Billuart type 300486
Associated With ophn1 Via Experimental Models
No data available
Gene Ontology
Protein Domains
Domain, Family, and Site Summary
Type InterPro ID Name
Domain IPR000198 Rho GTPase-activating protein domain
Domain IPR001849 Pleckstrin homology domain
Homologous_superfamily IPR008936 Rho GTPase activation protein
Homologous_superfamily IPR011993 PH-like domain superfamily
Homologous_superfamily IPR027267 AH/BAR domain superfamily
Domain Details Per Protein
Protein Length AH/BAR domain superfamily PH-like domain superfamily Pleckstrin homology domain Rho GTPase-activating protein domain Rho GTPase activation protein
UniProtKB:A0A0R4IQH1 272
UniProtKB:Q6DH84 266
UniProtKB:F8WJN2 800
UniProtKB:A0A0R4IH81 794
Transcripts
Genome Browsers
Interactions and Pathways
No data available
Antibodies
No data available
Plasmids
No data available
Constructs
Marker Relationships
Sequences
Orthology
Comparative Orthology
Alliance
Gene Tree
Ensembl
Citations