OPHN1 - oligophrenin 1 Gene

Also Known as OPN1; MRX60; MRXSBL; ARHGAP41

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 4983

About OPHN1

Cytogenetic location: Xq12 Genomic coordinates (GRCh38): X:68,042,344-68,433,841 (from NCBI)

This gene has 20 transcripts (splice variants), 202 orthologues, 3 paralogues and is associated with 3 phenotypes. Broad expression in brain (RPKM 5.5), prostate (RPKM 3.3) and 21 other tissues.

Summary

This gene encodes a Rho-GTPase-activating protein that promotes GTP hydrolysis of Rho subfamily members. Rho proteins are important mediators of intracellular signal transduction, which affects cell migration and cell morphogenesis. Mutations in this gene are responsible for OPHN1-related X-linked cognitive disability with cerebellar hypoplasia and distinctive facial dysmorhphism. [provided by RefSeq, Jul 2008]

OPHN1 Products (1)

mRNA	Protein	Name
NM_002547.3	NP_002538.1	oligophrenin-1

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables phospholipid binding	IDA IDA: Inferred from direct assay	18954304	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in cell junction assembly	IMP IMP: Inferred from mutant phenotype	22891260	GOA
involved in cell morphogenesis involved in neuron differentiation	IMP IMP: Inferred from mutant phenotype	27160703	GOA
involved in cerebellar granule cell differentiation	IMP IMP: Inferred from mutant phenotype	27160703	GOA
involved in cerebral cortex neuron differentiation	IMP IMP: Inferred from mutant phenotype	27160703	GOA
involved in establishment of epithelial cell apical/basal polarity	IMP IMP: Inferred from mutant phenotype	22891260	GOA
involved in neuron differentiation	IMP IMP: Inferred from mutant phenotype	27160703	GOA
involved in neuron projection development	IMP IMP: Inferred from mutant phenotype	27160703	GOA
involved in regulation of Rho protein signal transduction	IMP IMP: Inferred from mutant phenotype	27160703	GOA
involved in regulation of postsynaptic neurotransmitter receptor internalization	EXP EXP: Inferred from Experiment	24966368	GOA
involved in regulation of postsynaptic neurotransmitter receptor internalization	IDA IDA: Inferred from direct assay	24966368	GOA
involved in regulation of postsynaptic neurotransmitter receptor internalization	IMP IMP: Inferred from mutant phenotype	24966368	GOA

Cellular Component GO Annotation	Evidence	References	Source
is active in glutamatergic synapse	EXP EXP: Inferred from Experiment	24966368	GOA
is active in glutamatergic synapse	IDA IDA: Inferred from direct assay	24966368	GOA
is active in glutamatergic synapse	IMP IMP: Inferred from mutant phenotype	24966368	GOA

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

OPHN1 Protein Structure

RhoGAP

0
200
400
600
802 a.a.

Protein Preferred Names	Protein Names
oligophrenin-1	oligophrenin-1, Rho-GTPase activating protein

Related Diseases

Diseases	Alias
Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type	MRXSBL Mental Retardation, X-Linked, With Cerebellar Hypoplasia And Distinctive Facial Appearance X-Linked Mental Retardation With Cerebellar Hypoplasia And Distinctive Facial Appearance Mental Retardation, X-Linked 60, Formerly Mrx60, Formerly Intellectual Developmental Disorder, X-Linked Syndromic, Billuart Type Mrx60 Mental Retardation, X-Linked, With Cerebellar Hypoplasia, Distinctive Facial Appearance
Ophn1 Syndrome	X-Linked Intellectual Disability-Cerebellar Hypoplasia Syndrome Oligophrenin-1 Syndrome Intellectual Disability, X-Linked, With Cerebellar Hypoplasia And Distinctive Facial Appearance Ophn1 Deficiency Ophn1 Xlmr Ophn1 Xlmr, X-Linked Intellectual Disability Ophn1- Related Xlid X-Linked Intellectual Deficit With Cerebellar Hypoplasia
Cerebellar Hypoplasia
Oligohydramnios	Oligohydramnios - Delivered Antepartum Oligohydramnios Delivered Oligohydramnios Oligohydramnios, Antepartum Condition Or Complication Deficient Liquor Oligohydramnios, Unspecified Trimester Reduced Liquor Volume
Non-Syndromic X-Linked Intellectual Disability 81	Mrx81
Craniofrontonasal Syndrome	Craniofrontonasal Dysplasia CFNS Cfnd Craniofrontonasal Dysostosis Craniofrontonasal Dystosis Dysplasia, Craniofrontonasal
Non-Syndromic X-Linked Intellectual Disability 77	Mrx77
Congenital Nervous System Abnormality	Congenital Neurologic Anomaly Congenital Nervous System Disorder
Nervous System Disease	Abnormality Of The Nervous System Nervous System Diseases Nervous System Disorder
Intellectual Developmental Disorder, Autosomal Dominant 29	MRD29 Autosomal Dominant Non-Syndromic Intellectual Disability 29 Mental Retardation, Autosomal Dominant 29 Autosomal Dominant Intellectual Developmental Disorder 29 Autosomal Dominant Mental Retardation 29 Mental Retardation, Autosomal Dominant, Type 29
Partington Syndrome	X-Linked Reticulate Pigmentary Disorder PRTS Partington X-Linked Mental Retardation Syndrome Mrxs1 Mrx36 Intellectual Developmental Disorder, X-Linked, Syndromic 1 Partington Disease Pdr Partington-Mulley Syndrome Russell-Silver Syndrome, X-Linked Mental Retardation, X-Linked, Syndromic 1 Mental Retardation, X-Linked, With Dystonic Movements, Ataxia, And Seizures Mental Retardation, X-Linked 36 X-Linked Reticulate Pigmentary Disorder With Systemic Manifestations X-Linked Russell-Silver Syndrome Intelectual Disability-Dystonic Movements-Ataxia-Seizures Syndrome Intellectual Disability, X-Linked, Syndromic 1 Intellectual Disability, X-Linked, With Dystonic Movements, Ataxia, And Seizures Partington X-Linked Intellectual Disability Syndrome X-Linked Intellectual Deficit-Dystonia-Dysarthria X-Linked Mental Retardation With Dystonic Movements, Ataxia, And Seizures Familial Cutaneous Amyloidosis X-Linked Cutaneous Amyloidosis Xlpdr X-Linked Intellectual Disability-Dystonia-Dysarthria Syndrome Pigmentary Disorder, Reticulate, With Systemic Manifestations
Non-Syndromic X-Linked Intellectual Disability 106	Mrx106 X-Linked Mental Retardation 106
Pontocerebellar Hypoplasia, Type 1a	Pontocerebellar Hypoplasia Type 1a PCH1A Pontocerebellar Hypoplasia With Infantile Spinal Muscular Atrophy Pontocerebellar Hypoplasia With Anterior Horn Cell Disease Pch1 Pontocerebellar Hypoplasia 1a Hypoplasia, Pontocerebellar, Type 1a Pontocerebellar Hypoplasia Type 1
Cerebral Creatine Deficiency Syndrome 1	Creatine Transporter Deficiency Creatine Transporter Defect Slc6a8 Deficiency X-Linked Creatine Deficiency Syndrome CCDS1 Creatine Deficiency Syndrome, X-Linked X-Linked Creatine Deficiency Creatine Deficiency, X-Linked X-Linked Creatine Transporter Deficiency Mental Retardation, X-Linked, With Seizures, Short Stature, And Midface Hypoplasia Mental Retardation, X-Linked, With Creatine Transport Deficiency Intellectual Disability, X-Linked With Seizures, Short Stature And Midface Hypoplasia Intellectual Disability, X-Linked, With Creatine Transport Deficiency Slc6a8-Related Creatine Transporter Deficiency Deficiency, Cerebral Creatine, Syndrome, Type 1
Mild Cognitive Impairment
Strabismus	Strabismus, Susceptibility To Strabismus, Susceptibility To, 1 Strabismus 1
Tetanus Neonatorum	Neonatal Tetanus NNT Trismus Neonatorum Newborn Trismus
Coffin-Lowry Syndrome	CLS Coffin Syndrome 1 Coffin Syndrome Intellectual Disability With Osteocartilaginous Abnormalities Dwarfism, Lean Spastic Type Lean Spastic Dwarfism Mental Retardation With Osteocartilaginous Abnormalities Coffin Lowry Syndrome
Non-Syndromic X-Linked Intellectual Disability	X-Linked Non-Syndromic Intellectual Disability Non-Specific X-Linked Mental Retardation X-Linked Non-Specific Intellectual Disability
Autism Spectrum Disorder	Asd Autism Spectrum Disorders Autistic Continuum Pervasive Developmental Disorder Pervasive Development Disorder Autistic Behavior Autistic Disorder Autistic Autistic Disorder Of Childhood Onset Infantile Autism Childhood Autism Kanner Syndrome Pervasive Developmental Delay Nos Pervasive Developmental Disorder, Not Otherwise Specified
Epilepsy	Epilepsy Syndrome Epileptic Syndrome Epilepsies Symptomatic Epilepsies Post Traumatic Epilepsy Traumatic Epilepsy Traumatic Epileptic Epilepsy Due To Hippocampal Sclerosis Epilepsy With Ammon'S Horn Sclerosis Epilepsy Due To Cortical Dysplasia Epilepsy Due To Neuronal Migration Disorders
Syndromic Intellectual Disability
Specific Developmental Disorder
Mowat-Wilson Syndrome	MOWS Microcephaly, Mental Retardation, And Distinct Facial Features, With Or Without Hirschsprung Disease Hirschsprung Disease-Mental Retardation Syndrome Mowat-Wilson Syndrome Due To Monosomy 2q22 Hirschsprung Disease Mental Retardation Syndrome Microcephaly, Mental Retardation, And Distinct Facial Featrues, With Or Without Hirschprung Disease Hirschsprung Disease - Intellectual Disability Syndrome Hirschsprung Disease Intellectual Disability Syndrome Intellectual Disability, Microcephaly, And Distinct Facial Features With Or Without Hirschsprung Disease Mws Hirschsprung Disease-Intellectual Disability Syndrome Hirschsprung Disease And Intellectual Disability Due To 2q22 Microdeletion Hirschsprung Disease And Intellectual Disability Due To Del(2)(Q22) Hirschsprung Disease And Intellectual Disability Due To Monosomy 2q22 Mowat-Wilson Syndrome Due To 2q22 Microdeletion Mowat-Wilson Syndrome Due To Del(2)Q(22) Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation Hirschsprung Disease And Intellectual Disability Due To A Zeb2 Point Mutation
Autism	Autistic Disorder Autism Susceptibility 1 Childhood Autism Autistic Disorder Of Childhood Onset Infantile Autism Kanner'S Syndrome Autistic
Syndromic X-Linked Intellectual Disability	X-Linked Syndromic Intellectual Disability

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

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
Felis catus	OPHN1	VGNC	VGNC:68629
Rattus norvegicus	OPHN1	RGD	RGD:1563435
Mus musculus	OPHN1	MGD	MGI:2151070
Macaca mulatta	OPHN1	VGNC	VGNC:75588
Canis familiaris	OPHN1	VGNC	VGNC:44128
Bos taurus	OPHN1	VGNC	VGNC:106854