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    DTNBP1 dystrobrevin binding protein 1 [ Homo sapiens (human) ]

    Gene ID: 84062, updated on 22-Jun-2017
    Official Symbol
    DTNBP1provided by HGNC
    Official Full Name
    dystrobrevin binding protein 1provided by HGNC
    Primary source
    HGNC:HGNC:17328
    See related
    Ensembl:ENSG00000047579 MIM:607145; Vega:OTTHUMG00000014295
    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
    SDY; DBND; HPS7; My031; BLOC1S8
    Summary
    This gene encodes a protein that may play a role in organelle biogenesis associated with melanosomes, platelet dense granules, and lysosomes. A similar protein in mouse is a component of a protein complex termed biogenesis of lysosome-related organelles complex 1 (BLOC-1), and binds to alpha- and beta-dystrobrevins, which are components of the dystrophin-associated protein complex (DPC). Mutations in this gene are associated with Hermansky-Pudlak syndrome type 7. This gene may also be associated with schizophrenia. Multiple transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]
    Orthologs
    Location:
    6p22.3
    Exon count:
    13
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 6 NC_000006.12 (15522801..15663058, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (15523032..15663289, complement)

    Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene jumonji and AT-rich interaction domain containing 2 Neighboring gene RNA, U6 small nuclear 522, pseudogene Neighboring gene RNA, U6 small nuclear 645, pseudogene Neighboring gene uncharacterized LOC105374947 Neighboring gene uncharacterized LOC102724520 Neighboring gene uncharacterized LOC105374948

    • 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 Jun 15 11:32:44 2016

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    • Clathrin derived vesicle budding, organism-specific biosystem (from REACTOME)
      Clathrin derived vesicle budding, organism-specific biosystemThere at least two classes of clathrin coated vesicles in cells, one predominantly Golgi-associated, involved in budding from the trans-Golgi network and the other at the plasma membrane. Here the cl...
    • Golgi Associated Vesicle Biogenesis, organism-specific biosystem (from REACTOME)
      Golgi Associated Vesicle Biogenesis, organism-specific biosystemProteins that have been synthesized, processed and sorted eventually reach the final steps of the secretory pathway. This pathway is responsible not only for proteins that are secreted from the cell ...
    • Membrane Trafficking, organism-specific biosystem (from REACTOME)
      Membrane Trafficking, organism-specific biosystemThe secretory membrane system allows a cell to regulate delivery of newly synthesized proteins, carbohydrates, and lipids to the cell surface, a necessity for growth and homeostasis. The system is ma...
    • Vesicle-mediated transport, organism-specific biosystem (from REACTOME)
      Vesicle-mediated transport, organism-specific biosystemThe transit of proteins and other cargo through the cell requires a cellular transport process in which transported substances are moved in membrane-bounded vesicles. Transported substances are enclo...
    • trans-Golgi Network Vesicle Budding, organism-specific biosystem (from REACTOME)
      trans-Golgi Network Vesicle Budding, organism-specific biosystemAfter passing through the Golgi complex, secretory cargo is packaged into post-Golgi transport intermediates (post-Golgi), which translocate plus-end directed along microtubules to the plasma membran...
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Clone Names

    • FLJ30031, MGC20210, DKFZp564K192

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    actin cytoskeleton reorganization ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    anterograde axonal transport ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    anterograde synaptic vesicle transport ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    blood coagulation IEA
    Inferred from Electronic Annotation
    more info
     
    dendrite morphogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    melanosome organization NAS
    Non-traceable Author Statement
    more info
    PubMed 
    negative regulation of protein binding IEA
    Inferred from Electronic Annotation
    more info
     
    negative regulation of protein serine/threonine kinase activity IEA
    Inferred from Electronic Annotation
    more info
     
    neuron projection development IDA
    Inferred from Direct Assay
    more info
    PubMed 
    neuron projection morphogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    platelet dense granule organization IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of gene expression ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    positive regulation of neurotransmitter secretion ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    regulation of JUN kinase activity IEA
    Inferred from Electronic Annotation
    more info
     
    regulation of dopamine receptor signaling pathway ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    regulation of dopamine secretion ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    Component Evidence Code Pubs
    BLOC-1 complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    axon ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    axon cytoplasm IEA
    Inferred from Electronic Annotation
    more info
     
    cell junction IEA
    Inferred from Electronic Annotation
    more info
     
    cytoplasm ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    cytosol TAS
    Traceable Author Statement
    more info
     
    dendritic spine ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    endoplasmic reticulum membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    endosome membrane IEA
    Inferred from Electronic Annotation
    more info
     
    growth cone ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    melanosome membrane IEA
    Inferred from Electronic Annotation
    more info
     
    microtubule cytoskeleton IDA
    Inferred from Direct Assay
    more info
     
    midbody IDA
    Inferred from Direct Assay
    more info
     
    neuron projection IDA
    Inferred from Direct Assay
    more info
    PubMed 
    nucleus ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    postsynaptic density of dendrite IDA
    Inferred from Direct Assay
    more info
    PubMed 
    postsynaptic membrane IEA
    Inferred from Electronic Annotation
    more info
     
    sarcolemma ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    sarcoplasm IEA
    Inferred from Electronic Annotation
    more info
     
    synaptic vesicle membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    synaptic vesicle membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    Preferred Names
    dysbindin
    Names
    BLOC-1 subunit 8
    Hermansky-Pudlak syndrome 7 protein
    biogenesis of lysosomal organelles complex-1, subunit 8
    biogenesis of lysosome-related organelles complex 1 subunit 8
    dysbindin-1

    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_009309.1 RefSeqGene

      Range
      4983..145240
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_588

    mRNA and Protein(s)

    1. NM_001271667.1NP_001258596.1  dysbindin isoform C

      See identical proteins and their annotated locations for NP_001258596.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) contains an alternate splice site in the 5' coding region and is predicted to use a downstream start codon, compared to variant 1. The resulting isoform (c) has a shorter N-terminus than isoform a. This variant and protein are described by Talbot et al. (PMID:21390302).
      Source sequence(s)
      AK054593, AY265460, BX394617
      UniProtKB/Swiss-Prot
      Q96EV8
      Conserved Domains (1) summary
      pfam04440
      Location:94238
      Dysbindin; Dysbindin (Dystrobrevin binding protein 1)
    2. NM_001271668.1NP_001258597.1  dysbindin isoform d

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5) omits an in-frame coding exon compared to variant 1. The resulting protein isoform (d) is shorter compared to isoform a.
      Source sequence(s)
      AY265460, BQ056746, BX394617
      Consensus CDS
      CCDS75405.1
      UniProtKB/Swiss-Prot
      Q96EV8
      UniProtKB/TrEMBL
      A6NFV8
      Related
      ENSP00000348183.4, ENST00000355917.7
      Conserved Domains (1) summary
      pfam04440
      Location:158302
      Dysbindin; Dysbindin (Dystrobrevin binding protein 1)
    3. NM_001271669.1NP_001258598.1  dysbindin isoform e

      Status: REVIEWED

      Description
      Transcript Variant: This variant (6) omits two in-frame coding exons compared to variant 1. The resulting protein isoform (e) is shorter than isoform a.
      Source sequence(s)
      AY265460, BE793298, BX394617
      Consensus CDS
      CCDS75404.1
      UniProtKB/Swiss-Prot
      Q96EV8
      UniProtKB/TrEMBL
      A0A087WYP9
      Related
      ENSP00000481997.1, ENST00000622898.4
      Conserved Domains (1) summary
      pfam04440
      Location:140284
      Dysbindin; Dysbindin (Dystrobrevin binding protein 1)
    4. NM_032122.4NP_115498.2  dysbindin isoform a

      See identical proteins and their annotated locations for NP_115498.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longer isoform (a). This protein isoform is described by Talbot et al. (PMID:21390302).
      Source sequence(s)
      AF394226, AI097393, BX394617
      Consensus CDS
      CCDS4534.1
      UniProtKB/Swiss-Prot
      Q96EV8
      UniProtKB/TrEMBL
      A0A0S2Z5U8
      Related
      ENSP00000341680.5, OTTHUMP00000016062, ENST00000344537.9, OTTHUMT00000039933
      Conserved Domains (1) summary
      pfam04440
      Location:175319
      Dysbindin; Dysbindin (Dystrobrevin binding protein 1)
    5. NM_183040.2NP_898861.1  dysbindin isoform b

      See identical proteins and their annotated locations for NP_898861.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) contains an additional segment in the coding region compared to variant 1. The resulting isoform (b) contains a shorter and distinct C-terminus compared to isoform a. This protein isoform is described by Talbot et al. (PMID:21390302).
      Source sequence(s)
      AK290718, AK310590, AL136637, BX394617
      Consensus CDS
      CCDS4535.1
      UniProtKB/Swiss-Prot
      Q96EV8
      Related
      ENSP00000344718.5, OTTHUMP00000016063, ENST00000338950.9, OTTHUMT00000039934
      Conserved Domains (1) summary
      pfam04440
      Location:175271
      Dysbindin; Dysbindin (Dystrobrevin binding protein 1)

    RNA

    1. NR_036448.1 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) contains an additional exon and an additional segment compared to variant 1. This variant is represented as non-coding because the use of the 5'-most supported translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AK290718, AK310590, AL136637, BX394617

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...Open this link in a new tab

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

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000006.12 Reference GRCh38.p7 Primary Assembly

      Range
      15522801..15663058 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011514936.2XP_011513238.1  dysbindin isoform X2

      Conserved Domains (1) summary
      pfam04440
      Location:145289
      Dysbindin; Dysbindin (Dystrobrevin binding protein 1)
    2. XM_005249447.4XP_005249504.1  dysbindin isoform X1

      Conserved Domains (1) summary
      pfam04440
      Location:162306
      Dysbindin; Dysbindin (Dystrobrevin binding protein 1)
    3. XM_011514937.2XP_011513239.1  dysbindin isoform X5

      UniProtKB/TrEMBL
      D6RJC6
      Related
      ENSP00000427239.1, OTTHUMP00000221463, ENST00000462989.6, OTTHUMT00000039935
      Conserved Domains (1) summary
      pfam04440
      Location:19163
      Dysbindin; Dysbindin (Dystrobrevin binding protein 1)
    4. XM_017011348.1XP_016866837.1  dysbindin isoform X3

    5. XM_017011349.1XP_016866838.1  dysbindin isoform X4

    Alternate CHM1_1.1

    Genomic

    1. NC_018917.2 Alternate CHM1_1.1

      Range
      15525522..15665696 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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