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    OPHN1 oligophrenin 1 [ Homo sapiens (human) ]

    Gene ID: 4983, updated on 3-Apr-2024

    Summary

    Official Symbol
    OPHN1provided by HGNC
    Official Full Name
    oligophrenin 1provided by HGNC
    Primary source
    HGNC:HGNC:8148
    See related
    Ensembl:ENSG00000079482 MIM:300127; AllianceGenome:HGNC:8148
    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; MRXSBL; 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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See OPHN1 in Genome Data Viewer
    Location:
    Xq12
    Exon count:
    28
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) X NC_000023.11 (68042344..68433841, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) X NC_060947.1 (66475136..66867394, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (67262186..67653337, complement)

    Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene Sharpr-MPRA regulatory region 14511 Neighboring gene negative expression of androgen receptor regulating lncRNA Neighboring gene BMI1 proto-oncogene, polycomb ring finger pseudogene 1 Neighboring gene NANOG hESC enhancer GRCh37_chrX:67280228-67280729 Neighboring gene RNA, U6 small nuclear 1225, pseudogene Neighboring gene phosphoglycerate kinase 1 pseudogene 1 Neighboring gene akirin 1 pseudogene 2 Neighboring gene H3K4me1 hESC enhancer GRCh37_chrX:67575188-67575688 Neighboring gene H3K4me1 hESC enhancer GRCh37_chrX:67575689-67576189 Neighboring gene Sharpr-MPRA regulatory region 7273 Neighboring gene nuclear distribution protein nudE-like 1-like Neighboring gene H3K27ac hESC enhancer GRCh37_chrX:67718059-67718733 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
    X-linked intellectual disability-cerebellar hypoplasia syndrome
    MedGen: C1845366 OMIM: 300486 GeneReviews: Not available
    Compare labs

    Copy number response

    Description
    Copy number response
    Haploinsufficency

    Sufficient evidence for dosage pathogenicity (Last evaluated 2023-03-22)

    ClinGen Genome Curation PagePubMed
    Triplosensitivity

    No evidence available (Last evaluated 2023-03-22)

    ClinGen Genome Curation PagePubMed

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

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

    General protein information

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

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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
      B9EIP8, O60890, Q5JQ81, Q6PCC1, Q8WX47
      UniProtKB/TrEMBL
      A0A7P0TBH4
      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: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000023.11 Reference GRCh38.p14 Primary Assembly

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

    mRNA and Protein(s)

    1. XM_011530961.2XP_011529263.1  oligophrenin-1 isoform X1

      See identical proteins and their annotated locations for XP_011529263.1

      UniProtKB/Swiss-Prot
      B9EIP8, O60890, Q5JQ81, Q6PCC1, Q8WX47
      UniProtKB/TrEMBL
      A0A7P0TBH4
      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_005262270.2XP_005262327.1  oligophrenin-1 isoform X4

      See identical proteins and their annotated locations for XP_005262327.1

      UniProtKB/TrEMBL
      A0A7P0Z4E9, B4DIT2
      Related
      ENSP00000505800.1, ENST00000679748.1
      Conserved Domains (3) summary
      cd07633
      Location:19225
      BAR_OPHN1; The Bin/Amphiphysin/Rvs (BAR) domain of Oligophrenin-1
      cd04374
      Location:363559
      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 cytoskeletal ...
      cd01249
      Location:267370
      BAR-PH_GRAF_family; GTPase Regulator Associated with Focal adhesion and related proteins Pleckstrin homology (PH) domain
    3. XM_006724653.3XP_006724716.1  oligophrenin-1 isoform X2

      UniProtKB/TrEMBL
      A0A7P0TBH4
      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_047442144.1XP_047298100.1  oligophrenin-1 isoform X3

    5. XM_047442145.1XP_047298101.1  oligophrenin-1 isoform X5

    6. XM_017029555.2XP_016885044.1  oligophrenin-1 isoform X5

      UniProtKB/TrEMBL
      A0A7P0T8V5
      Related
      ENSP00000505365.1, ENST00000680612.1

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060947.1 Alternate T2T-CHM13v2.0

      Range
      66475136..66867394 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054327139.1XP_054183114.1  oligophrenin-1 isoform X1

    2. XM_054327142.1XP_054183117.1  oligophrenin-1 isoform X4

    3. XM_054327140.1XP_054183115.1  oligophrenin-1 isoform X2

    4. XM_054327141.1XP_054183116.1  oligophrenin-1 isoform X3

    5. XM_054327144.1XP_054183119.1  oligophrenin-1 isoform X5

    6. XM_054327143.1XP_054183118.1  oligophrenin-1 isoform X5