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    Ophn1 oligophrenin 1 [ Mus musculus (house mouse) ]

    Gene ID: 94190, updated on 5-Sep-2021

    Summary

    Official Symbol
    Ophn1provided by MGI
    Official Full Name
    oligophrenin 1provided by MGI
    Primary source
    MGI:MGI:2151070
    See related
    Ensembl:ENSMUSG00000031214
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    Wtg; Wtgr; C130037N19Rik
    Expression
    Broad expression in CNS E18 (RPKM 5.4), frontal lobe adult (RPKM 4.2) and 16 other tissues See more
    Orthologs
    NEW
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    Genomic context

    See Ophn1 in Genome Data Viewer
    Location:
    X; X C3
    Exon count:
    29
    Annotation release Status Assembly Chr Location
    109 current GRCm39 (GCF_000001635.27) X NC_000086.8 (97597886..97934691, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) X NC_000086.7 (98554280..98891082, complement)
    Build 37.2 previous assembly MGSCv37 (GCF_000001635.18) X NC_000086.6 (95752854..96086324, complement)

    Chromosome X - NC_000086.8Genomic Context describing neighboring genes Neighboring gene androgen receptor Neighboring gene dCMP deaminase pseudogene Neighboring gene predicted gene, 26000 Neighboring gene small nucleolar RNA SNORA48 Neighboring gene Yip1 domain family, member 6

    Genomic regions, transcripts, and products

    Expression

    • Project title: Mouse ENCODE transcriptome data
    • Description: RNA profiling data sets generated by the Mouse ENCODE project.
    • BioProject: PRJNA66167
    • Publication: PMID 25409824
    • Analysis date: n/a

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Variation

    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Clone Names

    • MGC6513

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables GTPase activator activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    enables GTPase activator activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    enables actin binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables ionotropic glutamate receptor binding ISO
    Inferred from Sequence Orthology
    more info
     
    enables phospholipid binding ISO
    Inferred from Sequence Orthology
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in actin cytoskeleton organization IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    acts_upstream_of_or_within actin cytoskeleton organization IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in cell junction assembly ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in cell morphogenesis involved in neuron differentiation ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in cerebellar granule cell differentiation ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in cerebral cortex neuron differentiation ISO
    Inferred from Sequence Orthology
    more info
     
    acts_upstream_of_or_within endocytosis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in establishment of epithelial cell apical/basal polarity ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in maintenance of postsynaptic specialization structure ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in negative regulation of proteasomal protein catabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in negative regulation of proteasomal protein catabolic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    acts_upstream_of_or_within nervous system development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in neuron differentiation ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in neuron projection development ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in regulation of Rho protein signal transduction ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in regulation of endocytosis IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    acts_upstream_of_or_within regulation of endocytosis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in regulation of postsynaptic neurotransmitter receptor internalization ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in regulation of synaptic transmission, glutamatergic IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    acts_upstream_of_or_within regulation of synaptic transmission, glutamatergic IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in signal transduction IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in synaptic vesicle endocytosis IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    acts_upstream_of_or_within synaptic vesicle endocytosis IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    acts_upstream_of_or_within synaptic vesicle endocytosis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Component Evidence Code Pubs
    is_active_in actin cytoskeleton IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    located_in actin cytoskeleton IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in cell junction IEA
    Inferred from Electronic Annotation
    more info
     
    located_in cell projection IEA
    Inferred from Electronic Annotation
    more info
     
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in dendrite IDA
    Inferred from Direct Assay
    more info
    PubMed 
    is_active_in dendritic spine IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    located_in dendritic spine IDA
    Inferred from Direct Assay
    more info
    PubMed 
    is_active_in glutamatergic synapse ISO
    Inferred from Sequence Orthology
    more info
     
    located_in synapse IEA
    Inferred from Electronic Annotation
    more info
     
    is_active_in terminal bouton IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    located_in terminal bouton IDA
    Inferred from Direct Assay
    more info
    PubMed 

    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.

    mRNA and Protein(s)

    1. NM_001313754.1NP_001300683.1  oligophrenin-1 isoform a

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1 and 2 both encode the same isoform (a).
      Source sequence(s)
      AK036038, AK039304, AL831715, BE136101
      Consensus CDS
      CCDS30295.1
      UniProtKB/Swiss-Prot
      Q99J31
      Related
      ENSMUSP00000109457.2, ENSMUST00000113826.8
      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. NM_001313755.1NP_001300684.1  oligophrenin-1 isoform b

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) lacks an alternate in-frame exon compared to variant 1. The resulting isoform (b) has the same N- and C-termini but is shorter compared to isoform a.
      Source sequence(s)
      AK036038, AK039304, AK039556, AL831715, BE136101
      UniProtKB/Swiss-Prot
      Q99J31
      UniProtKB/TrEMBL
      Q8CA59
      Conserved Domains (4) summary
      cd04374
      Location:339535
      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:243346
      BAR-PH_GRAF_family; GTPase Regulator Associated with Focal adhesion and related proteins Pleckstrin homology (PH) domain
      pfam00169
      Location:242339
      PH; PH domain
      cl12013
      Location:19201
      BAR; The Bin/Amphiphysin/Rvs (BAR) domain, a dimerization module that binds membranes and detects membrane curvature
    3. NM_001313756.1NP_001300685.1  oligophrenin-1 isoform c

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4) has an alternate exon in place of most of the 3' exons compared to variant 1. The resulting isoform (c) has a shorter and distinct C-terminus compared to isoform a.
      Source sequence(s)
      AK036038, AK039304, AL672103
      UniProtKB/Swiss-Prot
      Q99J31
      Conserved Domains (1) summary
      cl12013
      Location:667
      BAR; The Bin/Amphiphysin/Rvs (BAR) domain, a dimerization module that binds membranes and detects membrane curvature
    4. NM_052976.4NP_443208.1  oligophrenin-1 isoform a

      See identical proteins and their annotated locations for NP_443208.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (a). Variants 1 and 2 both encode the same isoform (a).
      Source sequence(s)
      AK036038, AK039304, AL831715, BE136101
      Consensus CDS
      CCDS30295.1
      UniProtKB/Swiss-Prot
      Q99J31
      Related
      ENSMUSP00000033560.3, ENSMUST00000033560.9
      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: Mus musculus Annotation Release 109 details...Open this link in a new tab

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

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000086.8 Reference GRCm39 C57BL/6J

      Range
      97597886..97934691 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_036162131.1XP_036018024.1  oligophrenin-1 isoform X2

      Conserved Domains (3) summary
      cd04374
      Location:285481
      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:189292
      BAR-PH_GRAF_family; GTPase Regulator Associated with Focal adhesion and related proteins Pleckstrin homology (PH) domain
      cl12013
      Location:5147
      BAR; The Bin/Amphiphysin/Rvs (BAR) domain, a dimerization module that binds membranes and detects membrane curvature
    2. XM_011247694.4XP_011245996.1  oligophrenin-1 isoform X3

      Conserved Domains (2) summary
      cd04374
      Location:118314
      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:22125
      BAR-PH_GRAF_family; GTPase Regulator Associated with Focal adhesion and related proteins Pleckstrin homology (PH) domain
    3. XM_011247693.4XP_011245995.1  oligophrenin-1 isoform X1

      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

    RNA

    1. XR_004940366.1 RNA Sequence

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