2. Gene
  3. Ophn1 - oligophrenin 1 Gene

Ophn1 - oligophrenin 1 Gene

  • Gene
  • Protein
  • Agent
  • Ortholog
Mus musculus

Also known as Wtgr; C130037N19Rik

Gene ID: 94190 | Gene type: protein coding

About Ophn1

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 Reference 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 Reference 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 Reference 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
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