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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 22 in total

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GO Term	Evidence Code	PMID
substrate-dependent cell migration, cell extension	TAS	9582072
signal transduction	IEA
nervous system development	TAS	9582072
axon guidance	TAS	9582072
cerebellar granule cell differentiation	IMP	27160703

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]

endocytosis [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]

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]

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]

endocytosis [inference]

presynaptic endocytosis [inference]

synaptic vesicle endocytosis

vesicle-mediated transport in synapse [inference]

presynaptic endocytosis [inference]

synaptic vesicle endocytosis

import into cell [inference]

endocytosis [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 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

negative regulation of proteolysis [inference]

negative regulation of proteolysis involved in protein catabolic process [inference]

negative regulation of proteasomal protein catabolic process

negative regulation of nitrogen compound metabolic process [inference]

negative regulation of protein metabolic process [inference]

negative regulation of protein catabolic process [inference]

negative regulation of proteasomal protein catabolic process

negative regulation of proteolysis [inference]

negative regulation of proteolysis involved in 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 nitrogen compound metabolic process [inference]

negative regulation of nitrogen compound metabolic process [inference]

negative regulation of protein metabolic process [inference]

negative regulation of protein catabolic process [inference]

negative regulation of proteasomal protein catabolic process

negative regulation of proteolysis [inference]

negative regulation of proteolysis involved in protein catabolic process [inference]

negative regulation of proteasomal protein catabolic process

regulation of protein metabolic process [inference]

regulation of proteolysis [inference]

negative regulation of proteolysis [inference]

negative regulation of proteolysis involved in protein catabolic process [inference]

negative regulation of proteasomal protein catabolic process

regulation of proteolysis involved in protein catabolic process [inference]

regulation of proteasomal protein catabolic process [inference]

negative regulation of proteasomal protein catabolic process

negative regulation of proteolysis involved in 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

negative regulation of protein metabolic process [inference]

negative regulation of protein catabolic process [inference]

negative regulation of proteasomal protein catabolic process

negative regulation of proteolysis [inference]

negative regulation of proteolysis involved in 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

negative regulation of proteolysis [inference]

negative regulation of proteolysis involved in protein catabolic process [inference]

negative regulation of proteasomal protein catabolic process

regulation of protein metabolic process [inference]

regulation of proteolysis [inference]

negative regulation of proteolysis [inference]

negative regulation of proteolysis involved in protein catabolic process [inference]

negative regulation of proteasomal protein catabolic process

regulation of proteolysis involved in protein catabolic process [inference]

regulation of proteasomal protein catabolic process [inference]

negative regulation of proteasomal protein catabolic process

negative regulation of proteolysis involved in 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

negative regulation of protein metabolic process [inference]

negative regulation of protein catabolic process [inference]

negative regulation of proteasomal protein catabolic process

negative regulation of proteolysis [inference]

negative regulation of proteolysis involved in 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 proteolysis [inference]

negative regulation of proteolysis [inference]

negative regulation of proteolysis involved in protein catabolic process [inference]

negative regulation of proteasomal protein catabolic process

regulation of proteolysis involved in protein catabolic process [inference]

regulation of proteasomal protein catabolic process [inference]

negative regulation of proteasomal protein catabolic process

negative regulation of proteolysis involved in 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

negative regulation of protein metabolic process [inference]

negative regulation of protein catabolic process [inference]

negative regulation of proteasomal protein catabolic process

negative regulation of proteolysis [inference]

negative regulation of proteolysis involved in protein catabolic process [inference]

negative regulation of proteasomal protein catabolic process

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 Ras protein 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 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

negative regulation of proteolysis [inference]

negative regulation of proteolysis involved in protein catabolic process [inference]

negative regulation of proteasomal protein catabolic process

negative regulation of nitrogen compound metabolic process [inference]

negative regulation of protein metabolic process [inference]

negative regulation of protein catabolic process [inference]

negative regulation of proteasomal protein catabolic process

negative regulation of proteolysis [inference]

negative regulation of proteolysis involved in 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 Ras protein 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 Ras protein 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 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 7 in total

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GO Term	Evidence Code	PMID
cytoplasm	IBA
actin cytoskeleton	IBA
terminal bouton	IBA
dendritic spine	IBA
glutamatergic synapse	EXP	24966368

GO Hierarchy

cellular component

cellular anatomical entity [inference]

cytoplasm

cell junction [inference]

synapse [inference]

glutamatergic synapse

cell projection [inference]

plasma membrane bounded cell projection [inference]

neuron projection [inference]

neuron spine [inference]

dendritic spine

organelle [inference]

non-membrane-bounded organelle [inference]

intracellular non-membrane-bounded organelle [inference]

cytoskeleton [inference]

actin cytoskeleton

intracellular organelle [inference]

intracellular non-membrane-bounded organelle [inference]

cytoskeleton [inference]

actin cytoskeleton

presynapse [inference]

terminal bouton

postsynapse [inference]

dendritic spine

Displaying **all 4** entries
GO Term	Evidence Code	PMID
actin binding	IEA
GTPase activator activity	IBA
phospholipid binding	IDA	18954304
ionotropic glutamate receptor binding	IEA

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.

Disease

Disease Ontology

Displaying 1 entry
DO ID	Disease Name	Source
DOID:0080311	X-linked mental retardation with cerebellar hypoplasia and distinctive facial appearance	Alliance of Genome Resources

GlyTouCan

GlyComb

GlycoPOST

UniCarb-DR

LM-GlycoRepo

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