Ophn1 - oligophrenin 1 Gene

Also Known as Wtgr; C130037N19Rik

Species: Mus musculus

Gene Type: protein coding
Gene ID: 94190

Summary

Enables GTPase activator activity and actin binding activity. Involved in negative regulation of proteasomal protein catabolic process. Acts upstream of or within several processes, including regulation of endocytosis; regulation of glutamatergic synaptic transmission; and synaptic vesicle endocytosis. Located in several cellular components, including actin cytoskeleton; dendritic spine; and terminal bouton. Is expressed in several structures, including central nervous system; lung; metanephros; retina; and thymus. Used to study syndromic intellectual disability. 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). [provided by Alliance of Genome Resources, Apr 2022]

Ophn1 Products (4)

mRNA Protein Name
NM_001313754.1 NP_001300683.1 oligophrenin-1 isoform a
NM_001313755.1 NP_001300684.1 oligophrenin-1 isoform b
NM_001313756.1 NP_001300685.1 oligophrenin-1 isoform c
NM_052976.4 NP_443208.1 oligophrenin-1 isoform a

Gene Ontology

  • Molecular Function
  • Biological Process
  • Cellular Component
Molecular Function GO Annotation Evidence References Source
enables GTPase activator activity IMP
IMP: Inferred from mutant phenotype
19481455 MGI
enables actin binding IDA
IDA: Inferred from direct assay
12932438 MGI
enables protein binding IPI
IPI: Inferred from physical interaction
19481455 MGI
Biological Process GO Annotation Evidence References Source
acts upstream of or within actin cytoskeleton organization IDA
IDA: Inferred from direct assay
12932438 MGI
involved in negative regulation of proteasomal protein catabolic process IDA
IDA: Inferred from direct assay
21874017 MGI
acts upstream of or within regulation of endocytosis IMP
IMP: Inferred from mutant phenotype
19481455 MGI
acts upstream of or within regulation of synaptic transmission, glutamatergic IMP
IMP: Inferred from mutant phenotype
19481455 MGI
acts upstream of or within synaptic vesicle endocytosis IGI
IGI: Inferred from genetic interaction
19481455 MGI
acts upstream of or within synaptic vesicle endocytosis IMP
IMP: Inferred from mutant phenotype
19481455 MGI
Cellular Component GO Annotation Evidence References Source
located in actin cytoskeleton IDA
IDA: Inferred from direct assay
12932438 MGI
located in cytoplasm IDA
IDA: Inferred from direct assay
21874017 MGI
located in dendrite IDA
IDA: Inferred from direct assay
21874017 MGI
located in dendritic spine IDA
IDA: Inferred from direct assay
21874017 MGI
located in terminal bouton IDA
IDA: Inferred from direct assay
19481455 MGI
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern
Protein Preferred Names Protein Names

oligophrenin-1

Related Agents

  • Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)
Cat. No. Product Name
Effect
Purity
Rare Diseases
HY-RS09793 OPHN1 Human Pre-designed siRNA Set A Pre-designed Set / Unkown

Orthologs Information

Species Symbol Source ID
Homo sapiens Ophn1 NCBI NCBI:4983