Ophn1 oligophrenin 1 [Rattus norvegicus (Norway rat)] - Gene

Summary

Symbol: Ophn1provided by RGD
Full Name: oligophrenin 1provided by RGD
Primary source: RGD:1563435
See related: EnsemblRapid:ENSRNOG00000026573 AllianceGenome:RGD:1563435
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Rattus norvegicus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Rattus
Also known as: Opn1
Summary: Enables ionotropic glutamate receptor binding activity. Involved in maintenance of postsynaptic specialization structure and regulation of synaptic vesicle endocytosis. Is active in glutamatergic synapse and presynapse. 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, Nov 2024]
Expression: Biased expression in Heart (RPKM 100.2), Lung (RPKM 76.1) and 9 other tissues See more
Orthologs: human mouse all
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Genomic context

Location:: Xq22

Exon count:: 26

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCr8 (GCF_036323735.1)	X	NC_086039.1 (67639956..68018217, complement)
RS_2023_06	previous assembly	mRatBN7.2 (GCF_015227675.2)	X	NC_051356.1 (63599746..63976678, complement)
106	previous assembly	Rnor_6.0 (GCF_000001895.5)	X	NC_005120.4 (68185865..68579518, complement)

Chromosome X - NC_086039.1 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: A rat RNA-Seq transcriptomic BodyMap across 11 organs and 4 developmental stages A rat RNA-Seq transcriptomic BodyMap across 11 organs and 4 developmental stages
Description: 320 RNA samples isolated from 11 organs (adrenal gland, brain, heart, kidney, liver, lung, muscle, spleen, thymus, and testes or uterus) from both sexes of Fischer 344 rats across four developmental stages (2-, 6-, 21-, and 104-weeks-old)
BioProject: PRJNA238328
Publication: PMID 24510058
Analysis date: Mon Jun 6 17:44:12 2016

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Positive Allosteric Modulation of mGlu1 Reverses Cocaine-Induced Behavioral and Synaptic Plasticity Through the Integrated Stress Response and Oligophrenin-1.
Title: Positive Allosteric Modulation of mGlu(1) Reverses Cocaine-Induced Behavioral and Synaptic Plasticity Through the Integrated Stress Response and Oligophrenin-1.
our findings unveil a novel role for OPHN1 as an interaction partner of Homer1b/c in spine endocytic zone positioning, and provide new mechanistic insight into how genetic deficits in OPHN1 can lead to impaired synapse maturation and plasticity.
Title: The X-linked mental retardation protein OPHN1 interacts with Homer1b/c to control spine endocytic zone positioning and expression of synaptic potentiation.
OPHN1 through its Rho-GAP activity plays a critical role in the activity-dependent maturation and plasticity of excitatory synapses by controlling their structural and functional stability
Title: The Rho-linked mental retardation protein oligophrenin-1 controls synapse maturation and plasticity by stabilizing AMPA receptors.
Oligophrenin 1 is found in glial cells forming myelin sheaths in the vagus nerve, sciatic nerve and dorsal roots of guinea-pig, rat and human, in chromaffin cells of the adrenal medulla, and in chromaffin cells associated with sympathetic ganglia.
Title: Evidence that a major site of expression of the RHO-GTPASE activating protein, oligophrenin-1, is peripheral myelin.

Submit: New GeneRIF Correction

General gene information

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Markers

AA998661 (e-PCR)
- UniSTS:248630

BE106637 (e-PCR)
- UniSTS:246347

DXRat31 (e-PCR)
- UniSTS:119416

PMC305603P1 (e-PCR)
- UniSTS:272552

Ophn1 (e-PCR), detects polymorphism
- UniSTS:547551

PMC169877P1 (e-PCR)
- UniSTS:271610

Gene Ontology Provided by RGD

Function	Evidence Code	Pubs
enables GTPase activator activity	IBA Inferred from Biological aspect of Ancestor more info
enables GTPase activator activity	IEA Inferred from Electronic Annotation more info
enables GTPase activator activity	ISO Inferred from Sequence Orthology more info
enables actin binding	ISO Inferred from Sequence Orthology more info
enables ionotropic glutamate receptor binding	IPI Inferred from Physical Interaction more info	PubMed
enables phospholipid binding	ISO Inferred from Sequence Orthology more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in actin cytoskeleton organization	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within actin cytoskeleton organization	ISO Inferred from Sequence Orthology more info
involved_in cell junction assembly	ISO Inferred from Sequence Orthology more info
involved_in cell junction assembly	ISS Inferred from Sequence or Structural Similarity more info
involved_in cell morphogenesis involved in neuron differentiation	ISO Inferred from Sequence Orthology more info
involved_in cerebellar granule cell differentiation	ISO Inferred from Sequence Orthology more info
involved_in cerebral cortex neuron differentiation	ISO Inferred from Sequence Orthology more info
involved_in establishment of epithelial cell apical/basal polarity	ISO Inferred from Sequence Orthology more info
involved_in establishment of epithelial cell apical/basal polarity	ISS Inferred from Sequence or Structural Similarity more info
involved_in maintenance of postsynaptic specialization structure	EXP Inferred from Experiment more info	PubMed
involved_in maintenance of postsynaptic specialization structure	IDA Inferred from Direct Assay more info	PubMed
involved_in maintenance of postsynaptic specialization structure	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of proteasomal protein catabolic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in negative regulation of proteasomal protein catabolic process	ISO Inferred from Sequence Orthology more info
involved_in nervous system development	IEA Inferred from Electronic Annotation more info
involved_in neuron differentiation	ISO Inferred from Sequence Orthology more info
involved_in neuron projection development	ISO Inferred from Sequence Orthology more info
involved_in regulation of Rho protein signal transduction	ISO Inferred from Sequence Orthology more info
involved_in regulation of endocytosis	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within regulation of endocytosis	ISO Inferred from Sequence Orthology more info
involved_in regulation of postsynaptic neurotransmitter receptor internalization	ISO Inferred from Sequence Orthology more info
involved_in regulation of synaptic transmission, glutamatergic	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within regulation of synaptic transmission, glutamatergic	ISO Inferred from Sequence Orthology more info
involved_in regulation of synaptic vesicle endocytosis	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of synaptic vesicle endocytosis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in signal transduction	IEA Inferred from Electronic Annotation more info
involved_in synaptic vesicle endocytosis	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within synaptic vesicle endocytosis	ISO Inferred from Sequence Orthology more info

Component	Evidence Code	Pubs
is_active_in actin cytoskeleton	IBA Inferred from Biological aspect of Ancestor more info
located_in actin cytoskeleton	ISO Inferred from Sequence Orthology more info
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in cytoplasm	IEA Inferred from Electronic Annotation more info
located_in cytoplasm	ISO Inferred from Sequence Orthology more info
located_in dendrite	IEA Inferred from Electronic Annotation more info
located_in dendrite	ISO Inferred from Sequence Orthology more info
is_active_in dendritic spine	IBA Inferred from Biological aspect of Ancestor more info
located_in dendritic spine	ISO Inferred from Sequence Orthology more info
is_active_in glutamatergic synapse	EXP Inferred from Experiment more info	PubMed
is_active_in glutamatergic synapse	IDA Inferred from Direct Assay more info	PubMed
is_active_in glutamatergic synapse	IMP Inferred from Mutant Phenotype more info	PubMed
is_active_in glutamatergic synapse	ISO Inferred from Sequence Orthology more info
located_in postsynapse	IEA Inferred from Electronic Annotation more info
is_active_in presynapse	IDA Inferred from Direct Assay more info	PubMed
located_in presynapse	IEA Inferred from Electronic Annotation more info
is_active_in terminal bouton	IBA Inferred from Biological aspect of Ancestor more info
located_in terminal bouton	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: oligophrenin-1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_001107848.2 → NP_001101318.1 oligophrenin-1

See identical proteins and their annotated locations for NP_001101318.1

Status: VALIDATED

Source sequence(s)

JAXUCZ010000021

UniProtKB/Swiss-Prot

P0CAX5

UniProtKB/TrEMBL

A6IQ59

Related

ENSRNOP00000035867.4, ENSRNOT00000034772.8

Conserved Domains (4) summary

cd07633
Location:19 → 225

BAR_OPHN1; The Bin/Amphiphysin/Rvs (BAR) domain of Oligophrenin-1

cd04374
Location:363 → 559

RhoGAP_Graf; RhoGAP_Graf: GTPase-activator protein (GAP) domain for Rho-like GTPases found in GRAF (GTPase regulator associated with focal adhesion kinase); Graf is a multi-domain protein, containing SH3 and PH domains, that binds focal adhesion kinase and influences ...

cd01249
Location:267 → 370

BAR-PH_GRAF_family; GTPase Regulator Associated with Focal adhesion and related proteins Pleckstrin homology (PH) domain

pfam00169
Location:266 → 363

PH; PH domain
NM_001434037.1 → NP_001420966.1 oligophrenin-1

Status: VALIDATED

Source sequence(s)

JAXUCZ010000021

RefSeqs of Annotated Genomes: GCF_036323735.1-RS_2024_02

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCr8

Genomic

NC_086039.1 Reference GRCr8

Range

67639956..68018217 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_006257072.5 → XP_006257134.1 oligophrenin-1 isoform X1

UniProtKB/Swiss-Prot

P0CAX5

UniProtKB/TrEMBL

A6IQ59

Conserved Domains (4) summary

cd07633
Location:19 → 225

BAR_OPHN1; The Bin/Amphiphysin/Rvs (BAR) domain of Oligophrenin-1

cd04374
Location:363 → 559

RhoGAP_Graf; RhoGAP_Graf: GTPase-activator protein (GAP) domain for Rho-like GTPases found in GRAF (GTPase regulator associated with focal adhesion kinase); Graf is a multi-domain protein, containing SH3 and PH domains, that binds focal adhesion kinase and influences ...

cd01249
Location:267 → 370

BAR-PH_GRAF_family; GTPase Regulator Associated with Focal adhesion and related proteins Pleckstrin homology (PH) domain

pfam00169
Location:266 → 363

PH; PH domain
XM_039099689.2 → XP_038955617.1 oligophrenin-1 isoform X2

Conserved Domains (2) summary

cd04374
Location:187 → 383

RhoGAP_Graf; GTPase-activator protein (GAP) domain for Rho-like GTPases found in GRAF (GTPase regulator associated with focal adhesion kinase); Graf is a multi-domain protein, containing SH3 and PH domains, that binds focal adhesion kinase and influences cytoskeletal ...

cd01249
Location:91 → 194

BAR-PH_GRAF_family; GTPase Regulator Associated with Focal adhesion and related proteins Pleckstrin homology (PH) domain