Format

Send to:

Choose Destination
    • Showing Current items.

    OPHN1 oligophrenin 1 [ Homo sapiens (human) ]

    Gene ID: 4983, updated on 12-Oct-2019

    Summary

    Official Symbol
    OPHN1provided by HGNC
    Official Full Name
    oligophrenin 1provided by HGNC
    Primary source
    HGNC:HGNC:8148
    See related
    Ensembl:ENSG00000079482 MIM:300127
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    OPN1; MRX60; ARHGAP41
    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]
    Expression
    Broad expression in brain (RPKM 5.5), prostate (RPKM 3.3) and 21 other tissues See more
    Orthologs

    Genomic context

    See OPHN1 in Genome Data Viewer
    Location:
    Xq12
    Exon count:
    27
    Annotation release Status Assembly Chr Location
    109.20190905 current GRCh38.p13 (GCF_000001405.39) X NC_000023.11 (68042344..68433841, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (67262186..67653369, complement)

    Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105373241 Neighboring gene Sharpr-MPRA regulatory region 14511 Neighboring gene BMI1 proto-oncogene, polycomb ring finger pseudogene 1 Neighboring gene RNA, U6 small nuclear 1225, pseudogene Neighboring gene phosphoglycerate kinase 1 pseudogene 1 Neighboring gene akirin 1 pseudogene 2 Neighboring gene nuclear distribution protein nudE-like 1-like Neighboring gene RNA, U6 small nuclear 245, pseudogene Neighboring gene Yip1 domain family member 6

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    Mental retardation X-linked with cerebellar hypoplasia and distinctive facial appearance
    MedGen: C1845366 OMIM: 300486 GeneReviews: Not available
    Compare labs

    Copy number response

    Description
    Copy number response
    Triplosensitivity

    No evidence available (Last evaluated (2012-07-27)

    ClinGen Genome Curation Page
    Haploinsufficency

    Sufficient evidence for dosage pathogenicity (Last evaluated (2012-07-27)

    ClinGen Genome Curation PagePubMed

    Pathways from BioSystems

    • Regulation of RhoA activity, organism-specific biosystem (from Pathway Interaction Database)
      Regulation of RhoA activity, organism-specific biosystem
      Regulation of RhoA activity
    • Rho GTPase cycle, organism-specific biosystem (from REACTOME)
      Rho GTPase cycle, organism-specific biosystemThe cycling of Rho GTPases is tightly controlled by three classes of protein. These are (1) guanine nucleotide dissociation inhibitors or GDIs, which maintain Rho proteins in an inactive state in the...
    • Signal Transduction, organism-specific biosystem (from REACTOME)
      Signal Transduction, organism-specific biosystemSignal transduction is a process in which extracellular signals elicit changes in cell state and activity. Transmembrane receptors sense changes in the cellular environment by binding ligands, such a...
    • Signaling by Rho GTPases, organism-specific biosystem (from REACTOME)
      Signaling by Rho GTPases, organism-specific biosystemThe Rho family of small guanine nucleotide binding proteins is one of five generally recognized branches of the Ras superfamily. Like most Ras superfamily members, typical Rho proteins function as bi...

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    GTPase activator activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    actin binding IEA
    Inferred from Electronic Annotation
    more info
     
    ionotropic glutamate receptor binding IEA
    Inferred from Electronic Annotation
    more info
     
    phospholipid binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Process Evidence Code Pubs
    actin cytoskeleton organization IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    axon guidance TAS
    Traceable Author Statement
    more info
    PubMed 
    cell junction assembly IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    cell morphogenesis involved in neuron differentiation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    cerebellar granule cell differentiation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    cerebral cortex neuron differentiation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    establishment of epithelial cell apical/basal polarity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    maintenance of postsynaptic specialization structure IEA
    Inferred from Electronic Annotation
    more info
     
    negative regulation of proteasomal protein catabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    nervous system development TAS
    Traceable Author Statement
    more info
    PubMed 
    neuron differentiation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    neuron projection development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    positive regulation of GTPase activity IEA
    Inferred from Electronic Annotation
    more info
     
    regulation of Rho protein signal transduction IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    regulation of endocytosis IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    regulation of postsynaptic neurotransmitter receptor internalization EXP
    Inferred from Experiment
    more info
    PubMed 
    regulation of postsynaptic neurotransmitter receptor internalization IDA
    Inferred from Direct Assay
    more info
    PubMed 
    regulation of postsynaptic neurotransmitter receptor internalization IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    regulation of small GTPase mediated signal transduction TAS
    Traceable Author Statement
    more info
     
    regulation of synaptic transmission, glutamatergic IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    signal transduction IEA
    Inferred from Electronic Annotation
    more info
     
    substrate-dependent cell migration, cell extension TAS
    Traceable Author Statement
    more info
    PubMed 
    synaptic vesicle endocytosis IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    Component Evidence Code Pubs
    actin cytoskeleton IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    cell junction IEA
    Inferred from Electronic Annotation
    more info
     
    cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    cytosol TAS
    Traceable Author Statement
    more info
     
    dendritic spine IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    glutamatergic synapse EXP
    Inferred from Experiment
    more info
    PubMed 
    glutamatergic synapse IDA
    Inferred from Direct Assay
    more info
    PubMed 
    glutamatergic synapse IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    terminal bouton IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 

    General protein information

    Preferred Names
    oligophrenin-1
    Names
    mental retardation, X-linked 60
    oligophrenin-1, Rho-GTPase activating protein

    NCBI Reference Sequences (RefSeq)

    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.

    Genomic

    1. NG_008960.1 RefSeqGene

      Range
      4963..396114
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_002547.3NP_002538.1  oligophrenin-1

      See identical proteins and their annotated locations for NP_002538.1

      Status: REVIEWED

      Source sequence(s)
      AJ001189, AL157700, AL672138, BP357826
      Consensus CDS
      CCDS14388.1
      UniProtKB/Swiss-Prot
      O60890
      Related
      ENSP00000347710.5, ENST00000355520.6
      Conserved Domains (4) summary
      cd07633
      Location:19225
      BAR_OPHN1; The Bin/Amphiphysin/Rvs (BAR) domain of Oligophrenin-1
      cd04374
      Location:363559
      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:267370
      BAR-PH_GRAF_family; GTPase Regulator Associated with Focal adhesion and related proteins Pleckstrin homology (PH) domain
      pfam00169
      Location:266363
      PH; PH domain

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109.20190905

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

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000023.11 Reference GRCh38.p13 Primary Assembly

      Range
      68042344..68433841 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011530961.1XP_011529263.1  oligophrenin-1 isoform X1

      See identical proteins and their annotated locations for XP_011529263.1

      UniProtKB/Swiss-Prot
      O60890
      Conserved Domains (4) summary
      cd07633
      Location:19225
      BAR_OPHN1; The Bin/Amphiphysin/Rvs (BAR) domain of Oligophrenin-1
      cd04374
      Location:363559
      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:267370
      BAR-PH_GRAF_family; GTPase Regulator Associated with Focal adhesion and related proteins Pleckstrin homology (PH) domain
      pfam00169
      Location:266363
      PH; PH domain
    2. XM_005262270.1XP_005262327.1  oligophrenin-1 isoform X3

      See identical proteins and their annotated locations for XP_005262327.1

      Conserved Domains (3) summary
      cd07633
      Location:19225
      BAR_OPHN1; The Bin/Amphiphysin/Rvs (BAR) domain of Oligophrenin-1
      cd04374
      Location:363559
      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:267370
      BAR-PH_GRAF_family; GTPase Regulator Associated with Focal adhesion and related proteins Pleckstrin homology (PH) domain
    3. XM_006724653.2XP_006724716.1  oligophrenin-1 isoform X2

      Conserved Domains (4) summary
      cd07633
      Location:19225
      BAR_OPHN1; The Bin/Amphiphysin/Rvs (BAR) domain of Oligophrenin-1
      cd04374
      Location:363559
      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:267370
      BAR-PH_GRAF_family; GTPase Regulator Associated with Focal adhesion and related proteins Pleckstrin homology (PH) domain
      pfam00169
      Location:266363
      PH; PH domain
    4. XM_017029555.1XP_016885044.1  oligophrenin-1 isoform X4

    Support Center