Ophn1 oligophrenin 1 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Ophn1provided by MGI
Official Full Name: oligophrenin 1provided by MGI
Primary source: MGI:MGI:2151070
See related: Ensembl:ENSMUSG00000031214 AllianceGenome:MGI:2151070
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: Wtgr; C130037N19Rik
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, Nov 2024]
Expression: Broad expression in CNS E18 (RPKM 5.4), frontal lobe adult (RPKM 4.2) and 16 other tissues See more
Orthologs: human all
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Genomic context

Location:: X C3; X 42.94 cM

Exon count:: 29

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	X	NC_000086.8 (97597886..97934691, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	X	NC_000086.7 (98554280..98891082, complement)

Chromosome X - NC_000086.8 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: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Hippocampal Excitatory Synaptic Transmission and Plasticity Are Differentially Altered during Postnatal Development by Loss of the X-Linked Intellectual Disability Protein Oligophrenin-1.
Title: Hippocampal Excitatory Synaptic Transmission and Plasticity Are Differentially Altered during Postnatal Development by Loss of the X-Linked Intellectual Disability Protein Oligophrenin-1.
Androgen deprivationinduced OPHN1 amplification promotes castrationresistant prostate cancer.
Title: Androgen deprivation‑induced OPHN1 amplification promotes castration‑resistant prostate cancer.
Oligophrenin-1 moderates behavioral responses to stress by regulating parvalbumin interneuron activity in the medial prefrontal cortex.
Title: Oligophrenin-1 moderates behavioral responses to stress by regulating parvalbumin interneuron activity in the medial prefrontal cortex.
Altered Cl(-) homeostasis hinders forebrain GABAergic interneuron migration in a mouse model of intellectual disability.
Title: Altered Cl(-) homeostasis hinders forebrain GABAergic interneuron migration in a mouse model of intellectual disability.
Ophn1 deficiency generates severe impairments in performance at spatial working memory tests.
Title: Protein Kinase A Deregulation in the Medial Prefrontal Cortex Impairs Working Memory in Murine Oligophrenin-1 Deficiency.
Here, we report that chronic treatment in adult mouse with Fasudil, is able to counteract vertical and horizontal hyperactivities, restores recognition memory and limits the brain ventricular dilatation observed in Ophn1(-)(/y) However, deficits in working and spatial memories are partially or not rescued by the treatment
Title: Fasudil treatment in adult reverses behavioural changes and brain ventricular enlargement in Oligophrenin-1 mouse model of intellectual disability.
Furthermore, we found that olfactory behaviour was perturbed in OPHN1 ko mice. Chronic treatment with a Rho kinase inhibitor rescued most of the defects of the newly generated neurons. Altogether, our data indicated that OPHN1 plays a key role in regulating the number, morphology and function of adult-born inhibitory interneurons and contributed to identify potential therapeutic targets.
Title: Oligophrenin-1 regulates number, morphology and synaptic properties of adult-born inhibitory interneurons in the olfactory bulb.
OPHN1 mediated regulation of RhoA, Rac1 and Cdc42 is crucial for the preservation of cardiac function after myocardial injury.
Title: Oligophrenin1 protects mice against myocardial ischemia and reperfusion injury by modulating inflammation and myocardial apoptosis.
Identify OPHN1 as an important regulator of platelet cytoskeletal reorganization and thrombus formation.
Title: Loss of oligophrenin1 leads to uncontrolled Rho activation and increased thrombus formation in mice.
OPHN1 is a bifunctional protein that is able, through distinct mechanisms, to regulate and most likely link exocytosis to compensatory endocytosis in chromaffin cells.
Title: Oligophrenin-1 Connects Exocytotic Fusion to Compensatory Endocytosis in Neuroendocrine Cells.

Submit: New GeneRIF Correction See all GeneRIFs (18)

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Endonuclease-mediated (4)
Spontaneous (1)
Targeted (4) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

px-46d7 (e-PCR)
- UniSTS:257843

AA998661 (e-PCR)
- UniSTS:248630

Ophn1 (e-PCR), detects polymorphism
- UniSTS:528233

DXRat31 (e-PCR)
- UniSTS:119416

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

NoName (e-PCR)
- UniSTS:238055

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables GTPase activator activity	IBA Inferred from Biological aspect of Ancestor more info
enables GTPase activator activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables actin binding	IDA Inferred from Direct Assay more info	PubMed
enables ionotropic glutamate receptor binding	IEA Inferred from Electronic Annotation more info
enables ionotropic glutamate receptor binding	ISO Inferred from Sequence Orthology more info
enables phospholipid binding	IEA Inferred from Electronic Annotation more info
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	IDA Inferred from Direct Assay more info	PubMed
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	IEA Inferred from Electronic Annotation more info
involved_in cell morphogenesis involved in neuron differentiation	ISO Inferred from Sequence Orthology more info
involved_in cerebellar granule cell differentiation	IEA Inferred from Electronic Annotation more info
involved_in cerebellar granule cell differentiation	ISO Inferred from Sequence Orthology more info
involved_in cerebral cortex neuron differentiation	IEA Inferred from Electronic Annotation 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	IEA Inferred from Electronic Annotation more info
involved_in maintenance of postsynaptic specialization structure	ISO Inferred from Sequence Orthology more info
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	IDA Inferred from Direct Assay more info	PubMed
involved_in neuron differentiation	ISO Inferred from Sequence Orthology more info
involved_in neuron projection development	IEA Inferred from Electronic Annotation more info
involved_in neuron projection development	ISO Inferred from Sequence Orthology more info
involved_in regulation of Rho protein signal transduction	IEA Inferred from Electronic Annotation 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	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of postsynaptic neurotransmitter receptor internalization	IEA Inferred from Electronic Annotation 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	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of synaptic vesicle endocytosis	IEA Inferred from Electronic Annotation more info
involved_in regulation of synaptic vesicle endocytosis	ISO Inferred from Sequence Orthology more info
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	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within synaptic vesicle endocytosis	IMP Inferred from Mutant Phenotype more info	PubMed

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

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_001313754.1 → NP_001300683.1 oligophrenin-1 isoform a

Status: VALIDATED

Description

Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1 and 2 both encode the same isoform (a).

Source sequence(s)

AK036038, AK039304, AL831715, BE136101

Consensus CDS

CCDS30295.1

UniProtKB/Swiss-Prot

Q544K7, Q99J31

UniProtKB/TrEMBL

Q8C4C7

Related

ENSMUSP00000109457.2, ENSMUST00000113826.8

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_001313755.1 → NP_001300684.1 oligophrenin-1 isoform b

Status: VALIDATED

Description

Transcript Variant: This variant (3) lacks an alternate in-frame exon compared to variant 1. The resulting isoform (b) has the same N- and C-termini but is shorter compared to isoform a.

Source sequence(s)

AK036038, AK039304, AK039556, AL831715, BE136101

UniProtKB/TrEMBL

Q8C4C7

Conserved Domains (4) summary

cd04374
Location:339 → 535

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:243 → 346

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

pfam00169
Location:242 → 339

PH; PH domain

cl12013
Location:19 → 201

BAR; The Bin/Amphiphysin/Rvs (BAR) domain, a dimerization module that binds membranes and detects membrane curvature
NM_001313756.1 → NP_001300685.1 oligophrenin-1 isoform c

Status: VALIDATED

Description

Transcript Variant: This variant (4) has an alternate exon in place of most of the 3' exons compared to variant 1. The resulting isoform (c) has a shorter and distinct C-terminus compared to isoform a.

Source sequence(s)

AK036038, AK039304, AL672103

UniProtKB/Swiss-Prot

Q99J31

Conserved Domains (1) summary

cl12013
Location:6 → 67

BAR; The Bin/Amphiphysin/Rvs (BAR) domain, a dimerization module that binds membranes and detects membrane curvature
NM_052976.4 → NP_443208.1 oligophrenin-1 isoform a

See identical proteins and their annotated locations for NP_443208.1

Status: VALIDATED

Description

Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (a). Variants 1 and 2 both encode the same isoform (a).

Source sequence(s)

AK036038, AK039304, AL831715, BE136101

Consensus CDS

CCDS30295.1

UniProtKB/Swiss-Prot

Q544K7, Q99J31

UniProtKB/TrEMBL

Q8C4C7

Related

ENSMUSP00000033560.3, ENSMUST00000033560.9

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

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

Reference GRCm39 C57BL/6J

Genomic

NC_000086.8 Reference GRCm39 C57BL/6J

Range

97597886..97934691 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_036162131.1 → XP_036018024.1 oligophrenin-1 isoform X2

UniProtKB/TrEMBL

Q8C4C7

Conserved Domains (3) summary

cd04374
Location:285 → 481

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:189 → 292

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

cl12013
Location:5 → 147

BAR; The Bin/Amphiphysin/Rvs (BAR) domain, a dimerization module that binds membranes and detects membrane curvature
XM_011247694.4 → XP_011245996.1 oligophrenin-1 isoform X3

Conserved Domains (2) summary

cd04374
Location:118 → 314

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:22 → 125

BAR-PH_GRAF_family; GTPase Regulator Associated with Focal adhesion and related proteins Pleckstrin homology (PH) domain
XM_011247693.4 → XP_011245995.1 oligophrenin-1 isoform X1

UniProtKB/TrEMBL

Q8C4C7

Conserved Domains (3) summary

cd07633
Location:19 → 225

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

cd04374
Location:363 → 559

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:267 → 370

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