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Aliases for OPHN1 Gene

Aliases for OPHN1 Gene

  • Oligophrenin 1 2 3
  • Mental Retardation, X-Linked 60 2 3
  • MRX60 3 6
  • Oligophrenin-1, Rho-GTPase Activating Protein 3
  • Oligophrenin-1 3
  • ARHGAP41 3
  • OPN1 3

External Ids for OPHN1 Gene

Previous HGNC Symbols for OPHN1 Gene

  • MRX60

Previous GeneCards Identifiers for OPHN1 Gene

  • GC0XM063483
  • GC0XM064728
  • GC0XM065495
  • GC0XM066129
  • GC0XM067045
  • GC0XM067178
  • GC0XM061092
  • GC0XM067262

Summaries for OPHN1 Gene

Entrez Gene Summary for OPHN1 Gene

  • 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 mental retardation with cerebellar hypoplasia and distinctive facial dysmorhphism. [provided by RefSeq, Jul 2008]

GeneCards Summary for OPHN1 Gene

OPHN1 (Oligophrenin 1) is a Protein Coding gene. Diseases associated with OPHN1 include mental retardation, x-linked, with cerebellar hypoplasia and distinctive facial appearance and x-linked intellectual disability - cerebellar hypoplasia. Among its related pathways are Signaling by GPCR and Rho GTPase cycle. GO annotations related to this gene include phospholipid binding. An important paralog of this gene is CHN1.

UniProtKB/Swiss-Prot for OPHN1 Gene

  • Stimulates GTP hydrolysis of members of the Rho family. Its action on RHOA activity and signaling is implicated in growth and stabilization of dendritic spines, and therefore in synaptic function. Critical for the stabilization of AMPA receptors at postsynaptic sites. Critical for the regulation of synaptic vesicle endocytosis at presynaptic terminals. Required for the localization of NR1D1 to dendrites, can suppress its repressor activity and protect it from proteasomal degradation (By similarity).

Gene Wiki entry for OPHN1 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for OPHN1 Gene

Genomics for OPHN1 Gene

Regulatory Elements for OPHN1 Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for OPHN1 Gene

Start:
68,042,344 bp from pter
End:
68,433,913 bp from pter
Size:
391,570 bases
Orientation:
Minus strand

Genomic View for OPHN1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for OPHN1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for OPHN1 Gene

Proteins for OPHN1 Gene

  • Protein details for OPHN1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O60890-OPHN1_HUMAN
    Recommended name:
    Oligophrenin-1
    Protein Accession:
    O60890
    Secondary Accessions:
    • B9EIP8
    • Q5JQ81
    • Q6PCC1
    • Q8WX47

    Protein attributes for OPHN1 Gene

    Size:
    802 amino acids
    Molecular mass:
    91641 Da
    Quaternary structure:
    • Interacts with HOMER1. Interacts with AMPA receptor complexes. Interacts with SH3GL2 (endophilin-A1) (By similarity). Interacts (via C-terminus) with NR1D1 (By similarity).

    Alternative splice isoforms for OPHN1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for OPHN1 Gene

Proteomics data for OPHN1 Gene at MOPED

Post-translational modifications for OPHN1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for OPHN1 Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for OPHN1 (OPHN1)

No data available for DME Specific Peptides for OPHN1 Gene

Domains for OPHN1 Gene

Gene Families for OPHN1 Gene

HGNC:
  • ARHGAP :Rho GTPase activating proteins

Protein Domains for OPHN1 Gene

Suggested Antigen Peptide Sequences for OPHN1 Gene

Graphical View of Domain Structure for InterPro Entry

O60890

UniProtKB/Swiss-Prot:

OPHN1_HUMAN :
  • O60890
Domain:
  • Contains 1 PH domain.
  • Contains 1 Rho-GAP domain.
genes like me logo Genes that share domains with OPHN1: view

Function for OPHN1 Gene

Molecular function for OPHN1 Gene

UniProtKB/Swiss-Prot Function: Stimulates GTP hydrolysis of members of the Rho family. Its action on RHOA activity and signaling is implicated in growth and stabilization of dendritic spines, and therefore in synaptic function. Critical for the stabilization of AMPA receptors at postsynaptic sites. Critical for the regulation of synaptic vesicle endocytosis at presynaptic terminals. Required for the localization of NR1D1 to dendrites, can suppress its repressor activity and protect it from proteasomal degradation (By similarity).

Gene Ontology (GO) - Molecular Function for OPHN1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003779 actin binding IEA --
GO:0005096 GTPase activator activity IEA --
GO:0005515 protein binding --
GO:0005543 phospholipid binding IDA 18954304
GO:0035255 ionotropic glutamate receptor binding IEA --
genes like me logo Genes that share ontologies with OPHN1: view

Phenotypes for OPHN1 Gene

genes like me logo Genes that share phenotypes with OPHN1: view

Animal Models for OPHN1 Gene

MGI Knock Outs for OPHN1:

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for OPHN1

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , miRNA , Transcription Factor Targeting and HOMER Transcription for OPHN1 Gene

Localization for OPHN1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for OPHN1 Gene

Cell junction, synapse. Cell projection, axon. Cell projection, dendritic spine. Cell projection, dendrite. Cytoplasm. Note=Present in both presynaptic and postsynaptic sites. {ECO:0000250}.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for OPHN1 Gene COMPARTMENTS Subcellular localization image for OPHN1 gene
Compartment Confidence
cytosol 4
cytoskeleton 2
nucleus 2
plasma membrane 1

Gene Ontology (GO) - Cellular Components for OPHN1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005622 intracellular --
GO:0005737 cytoplasm --
GO:0005829 cytosol TAS --
GO:0015629 actin cytoskeleton IEA --
GO:0030054 cell junction IEA --
genes like me logo Genes that share ontologies with OPHN1: view

Pathways for OPHN1 Gene

genes like me logo Genes that share pathways with OPHN1: view

Pathways by source for OPHN1 Gene

1 Cell Signaling Technology pathway for OPHN1 Gene
1 BioSystems pathway for OPHN1 Gene

Gene Ontology (GO) - Biological Process for OPHN1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006930 substrate-dependent cell migration, cell extension TAS 9582072
GO:0007165 signal transduction TAS 9582072
GO:0007264 small GTPase mediated signal transduction TAS --
GO:0007399 nervous system development TAS 9582072
GO:0007411 axon guidance TAS 9582072
genes like me logo Genes that share ontologies with OPHN1: view

Compounds for OPHN1 Gene

(1) HMDB Compounds for OPHN1 Gene

Compound Synonyms Cas Number PubMed IDs
Guanosine triphosphate
  • 5'-GTP
86-01-1
genes like me logo Genes that share compounds with OPHN1: view

Transcripts for OPHN1 Gene

Unigene Clusters for OPHN1 Gene

Oligophrenin 1:
Representative Sequences:

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for OPHN1

Primer Products

  • OriGene qSTAR qPCR primer pairs in human,mouse,rat for OPHN1

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for OPHN1 Gene

No ASD Table

Relevant External Links for OPHN1 Gene

GeneLoc Exon Structure for
OPHN1
ECgene alternative splicing isoforms for
OPHN1

Expression for OPHN1 Gene

mRNA expression in normal human tissues for OPHN1 Gene

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for OPHN1 Gene

SOURCE GeneReport for Unigene cluster for OPHN1 Gene Hs.128824

mRNA Expression by UniProt/SwissProt for OPHN1 Gene

O60890-OPHN1_HUMAN
Tissue specificity: Expressed in brain
genes like me logo Genes that share expressions with OPHN1: view

In Situ Assay Products

No data available for mRNA differential expression in normal tissues for OPHN1 Gene

Orthologs for OPHN1 Gene

This gene was present in the common ancestor of animals.

Orthologs for OPHN1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia OPHN1 35
  • 99.83 (n)
  • 99.88 (a)
OPHN1 36
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia LOC525644 35
  • 92.23 (n)
  • 94.95 (a)
dog
(Canis familiaris)
Mammalia OPHN1 35
  • 92.18 (n)
  • 96.13 (a)
OPHN1 36
  • 95 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Ophn1 35
  • 88.03 (n)
  • 91.77 (a)
Ophn1 16
Ophn1 36
  • 92 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia OPHN1 36
  • 91 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia OPHN1 36
  • 67 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Ophn1 35
  • 87.12 (n)
  • 91.52 (a)
chicken
(Gallus gallus)
Aves OPHN1 35
  • 79.1 (n)
  • 89.91 (a)
OPHN1 36
  • 83 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia OPHN1 36
  • 80 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia MGC68856 35
tropical clawed frog
(Silurana tropicalis)
Amphibia ophn1 35
  • 68.86 (n)
  • 72.87 (a)
zebrafish
(Danio rerio)
Actinopterygii ophn1 36
  • 63 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta Graf 36
  • 27 (a)
OneToMany
Graf 37
  • 38 (a)
worm
(Caenorhabditis elegans)
Secernentea T04C9.1 36
  • 29 (a)
OneToMany
Species with no ortholog for OPHN1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for OPHN1 Gene

ENSEMBL:
Gene Tree for OPHN1 (if available)
TreeFam:
Gene Tree for OPHN1 (if available)

Paralogs for OPHN1 Gene

Pseudogenes.org Pseudogenes for OPHN1 Gene

genes like me logo Genes that share paralogs with OPHN1: view

Variants for OPHN1 Gene

Sequence variations from dbSNP and Humsavar for OPHN1 Gene

SNP ID Clin Chr 0X pos Sequence Context AA Info Type MAF
rs492933 -- 68,044,002(+) AACAA(C/T)TGCCA utr-variant-3-prime
rs508118 -- 68,057,805(+) AGAGT(A/C)ATGTA intron-variant
rs509275 -- 68,056,581(-) GCAAT(G/T)CTGTA intron-variant
rs572931 -- 68,058,869(+) ATGAA(A/G)GCAAA intron-variant
rs618306 -- 68,057,233(+) CCCCA(A/C)CCTCA intron-variant

Structural Variations from Database of Genomic Variants (DGV) for OPHN1 Gene

Variant ID Type Subtype PubMed ID
esv1584074 OTHER Inversion 17803354
dgv2450e1 CNV Complex 17122850
nsv818030 CNV Gain 17921354
nsv517446 CNV Gain 19592680
nsv6938 CNV Loss 18451855
nsv6939 CNV Loss 18451855
nsv436640 CNV Deletion 17901297
esv2575463 CNV Deletion 19546169
esv2676108 CNV Deletion 23128226
esv2740203 CNV Deletion 23290073

Relevant External Links for OPHN1 Gene

HapMap Linkage Disequilibrium report
OPHN1
Human Gene Mutation Database (HGMD)
OPHN1
Locus Specific Mutation Databases (LSDB)
OPHN1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for OPHN1 Gene

Disorders for OPHN1 Gene

(1) OMIM Diseases for OPHN1 Gene (300127)

UniProtKB/Swiss-Prot

OPHN1_HUMAN
  • Mental retardation, X-linked, syndromic, OPHN1-related (MRXSO) [MIM:300486]: A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. MRXSO patients manifest mental retardation associated with cerebellar hypoplasia and distinctive facial dysmorphism. {ECO:0000269 PubMed:10439959, ECO:0000269 PubMed:21796728, ECO:0000269 PubMed:9582072}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(1) University of Copenhagen DISEASES for OPHN1 Gene

(5) Novoseek inferred disease relationships for OPHN1 Gene

Disease -log(P) Hits PubMed IDs
cerebellar hypoplasia 89.2 7
mental retardation 85.7 31
strabismus 43.7 1
epilepsy 11.3 2
tumors 0 1

Relevant External Links for OPHN1

Genetic Association Database (GAD)
OPHN1
Human Genome Epidemiology (HuGE) Navigator
OPHN1
genes like me logo Genes that share disorders with OPHN1: view

Publications for OPHN1 Gene

  1. Oligophrenin-1 encodes a rhoGAP protein involved in X-linked mental retardation. (PMID: 9582072) Billuart P. … Chelly J. (Nature 1998) 2 3 4 23
  2. Deletion including the oligophrenin-1 gene associated with enlarged cerebral ventricles, cerebellar hypoplasia, seizures and ataxia. (PMID: 10439959) Tentler D. … Dahl N. (Eur. J. Hum. Genet. 1999) 3 4 23
  3. Determination of the gene structure of human oligophrenin-1 and identification of three novel polymorphisms by screening of DNA from 164 patients with non-specific X-linked mental retardation. (PMID: 10818214) Billuart P. … Bienvenu T. (Ann. Genet. 2000) 3 4 23
  4. Oligophrenin 1 mutations frequently cause X-linked mental retardation with cerebellar hypoplasia. (PMID: 16221952) Zanni G. … Chelly J. (Neurology 2005) 3 23 48
  5. [Anassociation study between OPHN1 gene rs492933 polymorphism and mental retardation in children of the Qinba Mountain region.]. (PMID: 18930891) Zhang L.J. … Zhang F.C. (Yi Chuan 2008) 3 23 48

Products for OPHN1 Gene

Sources for OPHN1 Gene

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