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Guidelines

MIRAGE

oligophrenin 1

Summary

Gene Symbol

OPHN1

Organism

Homo sapiens (human)

External Links

NCBI Gene

4983

PubChem

4983

Alliance of Genome Resources

HGNC:8148

JoGo

OPHN1

TogoVar

OPHN1

Annotation

Keyword

Alternative splicing
Cell projection
Cytoplasm
Disease variant
Endocytosis
GTPase activation
Intellectual disability
Neurogenesis
Proteomics identification
Reference proteome
Synapse

Proteins

Displaying **all 2** entries
UniProt	Protein Name
O60890
A0A7P0Z4E9

Annotation information from UniProt.

Gene Ontology (GO)

Displaying entries **1 - 5** of 26 in total

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GO Term	Evidence Code	PMID
endocytosis
substrate-dependent cell migration, cell extension	TAS
signal transduction	TAS
signal transduction	IEA
nervous system development	TAS

GO Hierarchy

biological process

cellular process [inference]

establishment or maintenance of cell polarity [inference]

establishment of cell polarity [inference]

establishment of monopolar cell polarity [inference]

establishment of apical/basal cell polarity [inference]

establishment of epithelial cell apical/basal polarity

establishment of epithelial cell polarity [inference]

establishment of epithelial cell apical/basal polarity

establishment or maintenance of bipolar cell polarity [inference]

establishment or maintenance of apical/basal cell polarity [inference]

establishment of apical/basal cell polarity [inference]

establishment of epithelial cell apical/basal polarity

establishment or maintenance of epithelial cell apical/basal polarity [inference]

establishment of epithelial cell apical/basal polarity

establishment or maintenance of monopolar cell polarity [inference]

establishment of monopolar cell polarity [inference]

establishment of apical/basal cell polarity [inference]

establishment of epithelial cell apical/basal polarity

signal transduction

vesicle-mediated transport [inference]

presynaptic endocytosis [inference]

synaptic vesicle endocytosis

vesicle-mediated transport in synapse [inference]

presynaptic endocytosis [inference]

synaptic vesicle endocytosis

actin filament-based process [inference]

actin cytoskeleton organization

cellular developmental process [inference]

cell differentiation [inference]

cell differentiation in hindbrain [inference]

cerebellar granule cell differentiation

neuron differentiation

central nervous system neuron differentiation [inference]

cerebellar granule cell differentiation

forebrain neuron differentiation [inference]

cerebral cortex neuron differentiation

glutamatergic neuron differentiation [inference]

cerebellar granule cell differentiation

epithelial cell differentiation [inference]

polarized epithelial cell differentiation [inference]

establishment of epithelial cell apical/basal polarity

cellular component organization or biogenesis [inference]

cellular component organization [inference]

organelle organization [inference]

cytoskeleton organization [inference]

actin cytoskeleton organization

postsynaptic specialization organization [inference]

postsynaptic density organization [inference]

maintenance of postsynaptic specialization structure

cellular component assembly [inference]

cell projection assembly [inference]

plasma membrane bounded cell projection assembly [inference]

substrate-dependent cell migration, cell extension

cell junction assembly

cell projection organization [inference]

cell projection assembly [inference]

plasma membrane bounded cell projection assembly [inference]

substrate-dependent cell migration, cell extension

plasma membrane bounded cell projection organization [inference]

neuron projection development

neuron projection guidance [inference]

axon guidance

plasma membrane bounded cell projection assembly [inference]

substrate-dependent cell migration, cell extension

cell junction organization [inference]

cell junction assembly

cell junction maintenance [inference]

maintenance of synapse structure [inference]

maintenance of postsynaptic specialization structure

synapse organization [inference]

maintenance of synapse structure [inference]

maintenance of postsynaptic specialization structure

cellular component maintenance [inference]

cell junction maintenance [inference]

maintenance of synapse structure [inference]

maintenance of postsynaptic specialization structure

developmental process [inference]

anatomical structure morphogenesis [inference]

cell morphogenesis [inference]

cell morphogenesis involved in neuron differentiation

anatomical structure development [inference]

system development [inference]

nervous system development

cellular developmental process [inference]

cell differentiation [inference]

cell differentiation in hindbrain [inference]

cerebellar granule cell differentiation

neuron differentiation

central nervous system neuron differentiation [inference]

cerebellar granule cell differentiation

forebrain neuron differentiation [inference]

cerebral cortex neuron differentiation

glutamatergic neuron differentiation [inference]

cerebellar granule cell differentiation

epithelial cell differentiation [inference]

polarized epithelial cell differentiation [inference]

establishment of epithelial cell apical/basal polarity

localization [inference]

establishment of localization [inference]

transport [inference]

vesicle-mediated transport [inference]

presynaptic endocytosis [inference]

synaptic vesicle endocytosis

vesicle-mediated transport in synapse [inference]

presynaptic endocytosis [inference]

synaptic vesicle endocytosis

import into cell [inference]

presynaptic endocytosis [inference]

synaptic vesicle endocytosis

establishment of localization in cell [inference]

presynaptic endocytosis [inference]

synaptic vesicle endocytosis

biological regulation [inference]

regulation of biological process [inference]

regulation of signaling [inference]

regulation of signal transduction [inference]

regulation of intracellular signal transduction [inference]

regulation of small GTPase mediated signal transduction [inference]

regulation of Rho protein signal transduction

regulation of trans-synaptic signaling [inference]

modulation of chemical synaptic transmission [inference]

regulation of synaptic transmission, glutamatergic

regulation of localization [inference]

regulation of transport [inference]

regulation of vesicle-mediated transport [inference]

regulation of endocytosis

regulation of receptor-mediated endocytosis [inference]

regulation of receptor internalization [inference]

regulation of postsynaptic neurotransmitter receptor internalization

regulation of synaptic vesicle endocytosis

regulation of synaptic vesicle recycling [inference]

regulation of synaptic vesicle endocytosis

negative regulation of biological process [inference]

negative regulation of cellular process [inference]

negative regulation of metabolic process [inference]

negative regulation of catabolic process [inference]

negative regulation of protein catabolic process [inference]

negative regulation of proteasomal protein catabolic process

negative regulation of macromolecule metabolic process [inference]

negative regulation of protein metabolic process [inference]

negative regulation of protein catabolic process [inference]

negative regulation of proteasomal protein catabolic process

regulation of response to stimulus [inference]

regulation of signal transduction [inference]

regulation of intracellular signal transduction [inference]

regulation of small GTPase mediated signal transduction [inference]

regulation of Rho protein signal transduction

regulation of cellular process [inference]

signal transduction

regulation of cell communication [inference]

regulation of signal transduction [inference]

regulation of intracellular signal transduction [inference]

regulation of small GTPase mediated signal transduction [inference]

regulation of Rho protein signal transduction

regulation of trans-synaptic signaling [inference]

modulation of chemical synaptic transmission [inference]

regulation of synaptic transmission, glutamatergic

regulation of metabolic process [inference]

negative regulation of metabolic process [inference]

negative regulation of catabolic process [inference]

negative regulation of protein catabolic process [inference]

negative regulation of proteasomal protein catabolic process

negative regulation of macromolecule metabolic process [inference]

negative regulation of protein metabolic process [inference]

negative regulation of protein catabolic process [inference]

negative regulation of proteasomal protein catabolic process

regulation of catabolic process [inference]

negative regulation of catabolic process [inference]

negative regulation of protein catabolic process [inference]

negative regulation of proteasomal protein catabolic process

regulation of protein catabolic process [inference]

negative regulation of protein catabolic process [inference]

negative regulation of proteasomal protein catabolic process

regulation of proteasomal protein catabolic process [inference]

negative regulation of proteasomal protein catabolic process

regulation of macromolecule metabolic process [inference]

negative regulation of macromolecule metabolic process [inference]

negative regulation of protein metabolic process [inference]

negative regulation of protein catabolic process [inference]

negative regulation of proteasomal protein catabolic process

regulation of protein metabolic process [inference]

regulation of protein catabolic process [inference]

negative regulation of protein catabolic process [inference]

negative regulation of proteasomal protein catabolic process

regulation of proteasomal protein catabolic process [inference]

negative regulation of proteasomal protein catabolic process

negative regulation of protein metabolic process [inference]

negative regulation of protein catabolic process [inference]

negative regulation of proteasomal protein catabolic process

regulation of primary metabolic process [inference]

regulation of protein metabolic process [inference]

regulation of protein catabolic process [inference]

negative regulation of protein catabolic process [inference]

negative regulation of proteasomal protein catabolic process

regulation of proteasomal protein catabolic process [inference]

negative regulation of proteasomal protein catabolic process

negative regulation of protein metabolic process [inference]

negative regulation of protein catabolic process [inference]

negative regulation of proteasomal protein catabolic process

negative regulation of cellular process [inference]

negative regulation of metabolic process [inference]

negative regulation of catabolic process [inference]

negative regulation of protein catabolic process [inference]

negative regulation of proteasomal protein catabolic process

negative regulation of macromolecule metabolic process [inference]

negative regulation of protein metabolic process [inference]

negative regulation of protein catabolic process [inference]

negative regulation of proteasomal protein catabolic process

regulation of cellular component organization [inference]

regulation of endocytosis

regulation of receptor-mediated endocytosis [inference]

regulation of receptor internalization [inference]

regulation of postsynaptic neurotransmitter receptor internalization

regulation of synaptic vesicle endocytosis

regulation of vesicle-mediated transport [inference]

regulation of endocytosis

regulation of receptor-mediated endocytosis [inference]

regulation of receptor internalization [inference]

regulation of postsynaptic neurotransmitter receptor internalization

regulation of synaptic vesicle endocytosis

regulation of biological quality [inference]

regulation of postsynaptic neurotransmitter receptor internalization

Displaying entries **1 - 5** of 18 in total

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GO Term	Evidence Code	PMID
cytoplasm	ISS
cytoplasm	IBA
cytoplasm	IEA
actin cytoskeleton	IBA
actin cytoskeleton	IEA

GO Hierarchy

cellular component

cellular anatomical structure [inference]

cytoplasm

cell junction [inference]

glutamatergic synapse

cell projection [inference]

plasma membrane bounded cell projection [inference]

neuron projection [inference]

neuron spine [inference]

dendritic spine

organelle [inference]

membraneless organelle [inference]

intracellular membraneless organelle [inference]

cytoskeleton [inference]

actin cytoskeleton

intracellular organelle [inference]

intracellular membraneless organelle [inference]

cytoskeleton [inference]

actin cytoskeleton

terminal bouton

dendritic spine

Displaying entries **1 - 5** of 6 in total

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GO Term	Evidence Code	PMID
actin binding	IEA
GTPase activator activity	TAS
GTPase activator activity	IBA
GTPase activator activity	IEA
phospholipid binding	IDA

GO Hierarchy

molecular function

binding [inference]

protein binding [inference]

signaling receptor binding [inference]

glutamate receptor binding [inference]

ionotropic glutamate receptor binding

cytoskeletal protein binding [inference]

actin binding

lipid binding [inference]

phospholipid binding

molecular function regulator activity [inference]

enzyme regulator activity [inference]

enzyme activator activity [inference]

GTPase activator activity

nucleoside-triphosphatase regulator activity [inference]

GTPase regulator activity [inference]

GTPase activator activity

molecular function activator activity [inference]

enzyme activator activity [inference]

GTPase activator activity

Gene Ontology information from NCBI Gene and UniProt.

OrthoDB (Group)

Group level

Eukaryota

Group Name

rho gtpase-activating protein

Functional Category

E: Amino acid transport and metabolism
J: Translation, ribosomal structure and biogenesis
T: Signal transduction mechanisms

Displaying **all 8** entries
InterPro
AH/BAR domain superfamily
BAR domain
GRAF family
GRAF, PH domain
PH-like domain superfamily
Pleckstrin homology domain
Rho GTPase activation protein
Rho GTPase-activating protein domain

Disease

Disease Ontology

Displaying 1 entry
DO ID	Disease Name	Source
DOID:0080311	Billuart-type X-linked syndromic intellectual developmental disorder	Alliance of Genome Resources

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Last updated: April 6, 2026