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    Dtnbp1 dystrobrevin binding protein 1 [ Mus musculus (house mouse) ]

    Gene ID: 94245, updated on 9-Dec-2024

    Summary

    Official Symbol
    Dtnbp1provided by MGI
    Official Full Name
    dystrobrevin binding protein 1provided by MGI
    Primary source
    MGI:MGI:2137586
    See related
    Ensembl:ENSMUSG00000057531 AllianceGenome:MGI:2137586
    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
    sdy; Bloc1s8; dysbindin; 5430437B18Rik
    Summary
    Involved in several processes, including anterograde synaptic vesicle transport; regulation of JUN kinase activity; and regulation of secretion by cell. Acts upstream of or within several processes, including negative regulation of protein serine/threonine kinase activity; plasma membrane bounded cell projection organization; and platelet dense granule organization. Located in several cellular components, including dendritic spine; growth cone; and sarcolemma. Part of BLOC-1 complex. Is active in several cellular components, including Schaffer collateral - CA1 synapse; hippocampal mossy fiber to CA3 synapse; and synaptic vesicle membrane. Is expressed in central nervous system and retina. Used to study Hermansky-Pudlak syndrome 7; platelet storage pool deficiency; and schizophrenia. Human ortholog(s) of this gene implicated in Hermansky-Pudlak syndrome 7 and schizophrenia. Orthologous to human DTNBP1 (dystrobrevin binding protein 1). [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Ubiquitous expression in kidney adult (RPKM 38.5), heart adult (RPKM 31.6) and 28 other tissues See more
    Orthologs
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    Genomic context

    See Dtnbp1 in Genome Data Viewer
    Location:
    13 A5; 13 21.73 cM
    Exon count:
    11
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 13 NC_000079.7 (45075552..45155614, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 13 NC_000079.6 (44922079..45002096, complement)

    Chromosome 13 - NC_000079.7Genomic Context describing neighboring genes Neighboring gene predicted gene, 40931 Neighboring gene STARR-seq mESC enhancer starr_34369 Neighboring gene STARR-seq mESC enhancer starr_34371 Neighboring gene STARR-positive B cell enhancer ABC_E10792 Neighboring gene STARR-seq mESC enhancer starr_34375 Neighboring gene CapStarr-seq enhancer MGSCv37_chr13:44825976-44826085 Neighboring gene STARR-positive B cell enhancer ABC_E9399 Neighboring gene STARR-positive B cell enhancer ABC_E5391 Neighboring gene STARR-seq mESC enhancer starr_34376 Neighboring gene jumonji and AT-rich interaction domain containing 2 Neighboring gene STARR-seq mESC enhancer starr_34381 Neighboring gene STARR-seq mESC enhancer starr_34384 Neighboring gene STARR-positive B cell enhancer ABC_E3080 Neighboring gene predicted gene, 23104 Neighboring gene predicted gene, 34409

    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)
    • Chemically induced (ENU) (1) 
    • Endonuclease-mediated (3) 
    • Spontaneous (1) 
    • Targeted (5)  1 citation

    Pathways from PubChem

    Interactions

    General gene information

    Gene Ontology Provided by MGI

    Items 1 - 25 of 40
    Process Evidence Code Pubs
    involved_in actin cytoskeleton organization PubMed 
    involved_in anterograde axonal transport PubMed 
    involved_in anterograde synaptic vesicle transport  
    involved_in anterograde synaptic vesicle transport PubMed 
    acts_upstream_of_or_within blood coagulation PubMed 
    acts_upstream_of_or_within cilium assembly PubMed 
    acts_upstream_of_or_within dendrite morphogenesis PubMed 
    acts_upstream_of_or_within kidney development PubMed 
    involved_in melanosome organization PubMed 
    acts_upstream_of_or_within memory PubMed 
    acts_upstream_of_or_within muscle organ development PubMed 
    involved_in negative regulation of dendritic spine morphogenesis  
    involved_in negative regulation of dendritic spine morphogenesis  
    acts_upstream_of_or_within negative regulation of protein binding PubMed 
    acts_upstream_of_or_within negative regulation of protein serine/threonine kinase activity PubMed 
    involved_in neuron projection development  
    involved_in neuron projection development  
    involved_in neuron projection development  
    involved_in neuron projection development PubMed 
    involved_in neuron projection morphogenesis PubMed 
    involved_in organelle organization PubMed 
    involved_in platelet dense granule organization  
    acts_upstream_of_or_within platelet dense granule organization PubMed 
    involved_in positive regulation of gene expression PubMed 
    involved_in positive regulation of glutamate neurotransmitter secretion in response to membrane depolarization  
    involved_in positive regulation of glutamate neurotransmitter secretion in response to membrane depolarization  
    involved_in positive regulation of neurotransmitter secretion PubMed 
    involved_in positive regulation of protein phosphorylation  
    involved_in positive regulation of receptor internalization  
    involved_in positive regulation of receptor internalization  
    acts_upstream_of_or_within protein transmembrane transport PubMed 
    involved_in regulation of JUN kinase activity PubMed 
    involved_in regulation of dopamine receptor signaling pathway  
    involved_in regulation of dopamine receptor signaling pathway  
    involved_in regulation of dopamine secretion PubMed 
    involved_in regulation of signal transduction  
    involved_in regulation of synaptic vesicle exocytosis  
    involved_in regulation of synaptic vesicle exocytosis PubMed 
    involved_in regulation of synaptic vesicle exocytosis PubMed 
    involved_in retina development in camera-type eye  
    Items 1 - 25 of 40
    Items 1 - 20 of 43
    Component Evidence Code Pubs
    part_of BLOC-1 complex  
    part_of BLOC-1 complex PubMed 
    part_of BLOC-1 complex  
    part_of BLOC-1 complex  
    is_active_in Schaffer collateral - CA1 synapse PubMed 
    is_active_in Schaffer collateral - CA1 synapse PubMed 
    is_active_in asymmetric synapse PubMed 
    located_in axon PubMed 
    located_in axon  
    located_in axon cytoplasm  
    located_in cytoplasm PubMed 
    located_in dendritic spine PubMed 
    located_in dendritic spine  
    located_in endoplasmic reticulum membrane PubMed 
    located_in endosome membrane  
    is_active_in glutamatergic synapse PubMed 
    is_active_in glutamatergic synapse PubMed 
    located_in growth cone PubMed 
    is_active_in hippocampal mossy fiber to CA3 synapse PubMed 
    located_in melanosome membrane  
    located_in microtubule cytoskeleton  
    located_in microtubule cytoskeleton  
    located_in midbody  
    located_in midbody  
    is_active_in neuron projection  
    located_in neuron projection  
    located_in neuron projection  
    located_in neuronal cell body  
    located_in neuronal cell body  
    located_in nucleus PubMed 
    is_active_in plasma membrane  
    located_in plasma membrane PubMed 
    is_active_in postsynaptic density PubMed 
    located_in postsynaptic density PubMed 
    located_in postsynaptic density  
    located_in postsynaptic membrane  
    located_in sarcolemma PubMed 
    located_in sarcoplasm PubMed 
    is_active_in synaptic vesicle membrane  
    is_active_in synaptic vesicle membrane PubMed 
    located_in synaptic vesicle membrane PubMed 
    located_in synaptic vesicle membrane  
    located_in synaptic vesicle membrane  
    Items 1 - 20 of 43

    General protein information

    Preferred Names
    dysbindin
    Names
    BLOC-1 subunit 8
    HPS7 protein homolog
    biogenesis of lysosome-related organelles complex 1 subunit 8
    dysbindin-1
    hermansky-Pudlak syndrome 7 protein homolog
    sandy

    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_025772.4NP_080048.2  dysbindin

      See identical proteins and their annotated locations for NP_080048.2

      Status: VALIDATED

      Source sequence(s)
      AC159210, AC166074
      Consensus CDS
      CCDS36647.1
      UniProtKB/Swiss-Prot
      Q3TWK1, Q6WXQ1, Q80ZN4, Q91WZ8, Q9CY43
      UniProtKB/TrEMBL
      A0A1Y7VIX4
      Related
      ENSMUSP00000072170.8, ENSMUST00000072329.15
      Conserved Domains (1) summary
      pfam04440
      Location:175316
      Dysbindin; Dysbindin (Dystrobrevin binding protein 1)

    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_000079.7 Reference GRCm39 C57BL/6J

      Range
      45075552..45155614 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006516984.5XP_006517047.1  dysbindin isoform X1

      Conserved Domains (1) summary
      pfam04440
      Location:19159
      Dysbindin; Dysbindin (Dystrobrevin binding protein 1)

    RNA

    1. XR_004938077.1 RNA Sequence

    2. XR_004938078.1 RNA Sequence

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