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    Disc1 disrupted in schizophrenia 1 [ Mus musculus (house mouse) ]

    Gene ID: 244667, updated on 27-Nov-2024

    Summary

    Official Symbol
    Disc1provided by MGI
    Official Full Name
    disrupted in schizophrenia 1provided by MGI
    Primary source
    MGI:MGI:2447658
    See related
    Ensembl:ENSMUSG00000043051 AllianceGenome:MGI:2447658
    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
    Summary
    Enables identical protein binding activity and molecular adaptor activity. Involved in several processes, including nervous system development; positive regulation of neuroblast proliferation; and regulation of synapse organization. Acts upstream of or within several processes, including detection of temperature stimulus involved in sensory perception of pain; mitochondrial calcium ion homeostasis; and non-motile cilium assembly. Located in microtubule organizing center; postsynaptic density; and synaptic vesicle. Is active in glutamatergic synapse. Is expressed in several structures, including brain; heart; liver; lung; and muscle tissue. Used to study melancholic depression and schizophrenia. Human ortholog(s) of this gene implicated in autism spectrum disorder (multiple); bipolar disorder; chronic fatigue syndrome; major depressive disorder; and psychotic disorder (multiple). Orthologous to human DISC1 (DISC1 scaffold protein). [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Ubiquitous expression in heart adult (RPKM 1.0), cortex adult (RPKM 1.0) and 27 other tissues See more
    Orthologs
    NEW
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    Try the new Transcript table

    Genomic context

    See Disc1 in Genome Data Viewer
    Location:
    8 E2; 8 73.26 cM
    Exon count:
    15
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 8 NC_000074.7 (125773928..125991882)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 8 NC_000074.6 (125048767..125265143)

    Chromosome 8 - NC_000074.7Genomic Context describing neighboring genes Neighboring gene predicted gene, 39281 Neighboring gene CapStarr-seq enhancer MGSCv37_chr8:127536767-127536876 Neighboring gene CapStarr-seq enhancer MGSCv37_chr8:127591083-127591270 Neighboring gene CapStarr-seq enhancer MGSCv37_chr8:127591569-127591752 Neighboring gene translin-associated factor X Neighboring gene VISTA enhancer mm1749 Neighboring gene VISTA enhancer mm149 Neighboring gene CapStarr-seq enhancer MGSCv37_chr8:127817421-127817530 Neighboring gene STARR-seq mESC enhancer starr_23015 Neighboring gene STARR-seq mESC enhancer starr_23016 Neighboring gene STARR-seq mESC enhancer starr_23018 Neighboring gene STARR-positive B cell enhancer mm9_chr8:127915206-127915507 Neighboring gene STARR-seq mESC enhancer starr_23020 Neighboring gene predicted gene, 30713 Neighboring gene signal-induced proliferation-associated 1 like 2 Neighboring gene STARR-seq mESC enhancer starr_23022 Neighboring gene RIKEN cDNA 4930566D17 gene

    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

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables identical protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables identical protein binding ISO
    Inferred from Sequence Orthology
    more info
     
    enables kinesin binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables kinesin binding ISO
    Inferred from Sequence Orthology
    more info
     
    enables molecular adaptor activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein-containing complex binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables protein-containing complex binding ISO
    Inferred from Sequence Orthology
    more info
     
    Process Evidence Code Pubs
    involved_in TOR signaling IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in canonical Wnt signaling pathway IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in cell proliferation in forebrain IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in cerebral cortex radially oriented cell migration IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in cilium assembly IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in cilium assembly ISO
    Inferred from Sequence Orthology
    more info
     
    acts_upstream_of_or_within detection of temperature stimulus involved in sensory perception of pain IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in microtubule cytoskeleton organization IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in microtubule cytoskeleton organization ISO
    Inferred from Sequence Orthology
    more info
     
    acts_upstream_of_or_within mitochondrial calcium ion homeostasis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in nervous system development ISO
    Inferred from Sequence Orthology
    more info
     
    acts_upstream_of_or_within neuron cellular homeostasis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in neuron migration IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    acts_upstream_of_or_within neuron migration IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    acts_upstream_of_or_within neuron migration IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in neuron migration IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in neuron migration ISO
    Inferred from Sequence Orthology
    more info
     
    acts_upstream_of_or_within non-motile cilium assembly IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within non-motile cilium assembly ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in positive regulation of Wnt signaling pathway IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of Wnt signaling pathway ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in positive regulation of axon extension IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of axon extension ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in positive regulation of cell-matrix adhesion IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of cell-matrix adhesion ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in positive regulation of neuroblast proliferation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of neuroblast proliferation ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in positive regulation of neuron projection development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of neuron projection development ISO
    Inferred from Sequence Orthology
    more info
     
    acts_upstream_of_or_within positive regulation of ubiquitin-dependent protein catabolic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within protein localization IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in protein localization to centrosome IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in pyramidal neuron migration to cerebral cortex IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in pyramidal neuron migration to cerebral cortex ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in regulation of dendritic spine development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in regulation of dendritic spine development ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in regulation of neuron projection development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in regulation of neuron projection development ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in regulation of postsynapse organization IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in regulation of postsynapse organization IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in regulation of synapse maturation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within regulation of synaptic transmission, glutamatergic ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in response to electrical stimulus IEA
    Inferred from Electronic Annotation
    more info
     
    acts_upstream_of ubiquitin-dependent protein catabolic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Component Evidence Code Pubs
    located_in GABA-ergic synapse IEA
    Inferred from Electronic Annotation
    more info
     
    is_active_in GABA-ergic synapse ISO
    Inferred from Sequence Orthology
    more info
     
    located_in axon ISO
    Inferred from Sequence Orthology
    more info
     
    located_in cell body IEA
    Inferred from Electronic Annotation
    more info
     
    located_in cell body ISO
    Inferred from Sequence Orthology
    more info
     
    located_in central region of growth cone IEA
    Inferred from Electronic Annotation
    more info
     
    located_in central region of growth cone ISO
    Inferred from Sequence Orthology
    more info
     
    located_in centrosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in centrosome IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    located_in centrosome ISO
    Inferred from Sequence Orthology
    more info
     
    located_in ciliary basal body IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in ciliary base IEA
    Inferred from Electronic Annotation
    more info
     
    located_in ciliary base ISO
    Inferred from Sequence Orthology
    more info
     
    located_in cytosol IEA
    Inferred from Electronic Annotation
    more info
     
    located_in cytosol ISO
    Inferred from Sequence Orthology
    more info
     
    part_of dynein complex IEA
    Inferred from Electronic Annotation
    more info
     
    part_of dynein complex ISO
    Inferred from Sequence Orthology
    more info
     
    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 glutamatergic synapse ISO
    Inferred from Sequence Orthology
    more info
     
    is_active_in intermediate filament cytoskeleton IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in intermediate filament cytoskeleton IEA
    Inferred from Electronic Annotation
    more info
     
    located_in intermediate filament cytoskeleton ISO
    Inferred from Sequence Orthology
    more info
     
    part_of kinesin complex IEA
    Inferred from Electronic Annotation
    more info
     
    part_of kinesin complex ISO
    Inferred from Sequence Orthology
    more info
     
    is_active_in microtubule IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in microtubule IEA
    Inferred from Electronic Annotation
    more info
     
    located_in microtubule ISO
    Inferred from Sequence Orthology
    more info
     
    is_active_in microtubule organizing center IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in mitochondrion ISO
    Inferred from Sequence Orthology
    more info
     
    located_in perinuclear region of cytoplasm IEA
    Inferred from Electronic Annotation
    more info
     
    located_in perinuclear region of cytoplasm ISO
    Inferred from Sequence Orthology
    more info
     
    located_in postsynaptic density IDA
    Inferred from Direct Assay
    more info
    PubMed 
    is_active_in postsynaptic density ISO
    Inferred from Sequence Orthology
    more info
     
    is_active_in presynapse ISO
    Inferred from Sequence Orthology
    more info
     
    located_in synaptic vesicle IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    Preferred Names
    disrupted in schizophrenia 1 homolog

    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_174853.3NP_777278.2  disrupted in schizophrenia 1 homolog isoform 2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) lacks an in-frame segment in the 3' coding region, compared to variant 1. The resulting protein (isoform 2) is shorter when it is compared to isoform 1.
      Source sequence(s)
      AC122265, AL672234, AL731650
      Consensus CDS
      CCDS40517.1
      Related
      ENSMUSP00000112757.2, ENSMUST00000117658.8
      Conserved Domains (1) summary
      cd00890
      Location:455560
      Prefoldin; Prefoldin is a hexameric molecular chaperone complex, found in both eukaryotes and archaea, that binds and stabilizes newly synthesized polypeptides allowing them to fold correctly. The complex contains two alpha and four beta subunits, the two subunits ...
    2. NM_174854.2NP_777279.2  disrupted in schizophrenia 1 homolog isoform 1

      See identical proteins and their annotated locations for NP_777279.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) is the longer transcript and it encodes the longer protein (isoform 1).
      Source sequence(s)
      AJ506179, AL672234, AL731650, AY177673
      Consensus CDS
      CCDS52707.1
      UniProtKB/Swiss-Prot
      Q7TQ21, Q811T9, Q8CF87, Q8CF88, Q8CHP1, Q8CHP2
      Related
      ENSMUSP00000095914.5, ENSMUST00000098311.11
      Conserved Domains (1) summary
      COG1196
      Location:329620
      Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]

    RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000074.7 Reference GRCm39 C57BL/6J

      Range
      125773928..125991882
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011248388.4XP_011246690.1  disrupted in schizophrenia 1 homolog isoform X2

      See identical proteins and their annotated locations for XP_011246690.1

      UniProtKB/Swiss-Prot
      Q7TQ21, Q811T9, Q8CF87, Q8CF88, Q8CHP1, Q8CHP2
      Related
      ENSMUSP00000112410.2, ENSMUST00000118942.8
      Conserved Domains (1) summary
      COG1196
      Location:329620
      Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
    2. XM_011248387.4XP_011246689.1  disrupted in schizophrenia 1 homolog isoform X1

      Conserved Domains (1) summary
      COG1196
      Location:340631
      Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]

    RNA

    1. XR_004934825.1 RNA Sequence

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_170596.1: Suppressed sequence

      Description
      NM_170596.1: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and the protein.