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

    Gene ID: 84062, updated on 11-Apr-2024

    Summary

    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; AllianceGenome:HGNC:17328
    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]
    Expression
    Ubiquitous expression in lymph node (RPKM 6.2), spleen (RPKM 4.0) and 25 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See DTNBP1 in Genome Data Viewer
    Location:
    6p22.3
    Exon count:
    12
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (15522807..15663058, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (15395977..15536251, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (15523038..15663289, complement)

    Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene jumonji and AT-rich interaction domain containing 2 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24073 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24074 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16951 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:15337209-15337728 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24075 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24076 Neighboring gene RNA, U6 small nuclear 522, pseudogene Neighboring gene RNA, U6 small nuclear 645, pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24077 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:15385480-15386240 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24078 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24079 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24080 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:15402869-15403369 Neighboring gene Sharpr-MPRA regulatory region 1760 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:15404593-15405283 Neighboring gene ReSE screen-validated silencer GRCh37_chr6:15413673-15413840 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24081 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16952 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24082 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:15444755-15445255 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:15447999-15448499 Neighboring gene NANOG hESC enhancer GRCh37_chr6:15461204-15461861 Neighboring gene ReSE screen-validated silencer GRCh37_chr6:15469722-15469904 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr6:15473668-15474867 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr6:15491921-15492422 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:15507577-15508118 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:15508119-15508660 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr6:15508661-15509202 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:15513022-15514000 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:15517558-15518058 Neighboring gene ReSE screen-validated silencer GRCh37_chr6:15523265-15523451 Neighboring gene uncharacterized LOC105374947 Neighboring gene MPRA-validated peak5680 silencer Neighboring gene uncharacterized LOC124901267 Neighboring gene Sharpr-MPRA regulatory region 14615 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:15551965-15552513 Neighboring gene MPRA-validated peak5681 silencer Neighboring gene MPRA-validated peak5682 silencer Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24083 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24084 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24085 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24086 Neighboring gene MPRA-validated peak5684 silencer Neighboring gene ReSE screen-validated silencer GRCh37_chr6:15641694-15641884 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24087 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16953 Neighboring gene MPRA-validated peak5686 silencer Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:15725723-15726536 Neighboring gene uncharacterized LOC102724520 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr6:15745025-15745698 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr6:15745699-15746372 Neighboring gene MPRA-validated peak5688 silencer Neighboring gene MPRA-validated peak5689 silencer Neighboring gene uncharacterized LOC105374948

    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?

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • FLJ30031, MGC20210, DKFZp564K192

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in actin cytoskeleton organization ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in anterograde axonal transport ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in anterograde synaptic vesicle transport IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in anterograde synaptic vesicle transport ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in blood coagulation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cilium assembly IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in dendrite morphogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in kidney development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in melanosome organization NAS
    Non-traceable Author Statement
    more info
    PubMed 
    involved_in memory IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in negative regulation of dendritic spine morphogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in negative regulation of protein kinase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in neuron projection development IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in neuron projection development IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in neuron projection morphogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in platelet dense granule organization IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in positive regulation of gene expression ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in positive regulation of glutamate neurotransmitter secretion in response to membrane depolarization IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of neurotransmitter secretion ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in positive regulation of protein phosphorylation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of receptor internalization IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in protein transmembrane transport IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in regulation of dopamine receptor signaling pathway ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in regulation of dopamine secretion ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in regulation of synaptic vesicle exocytosis IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in retina development in camera-type eye IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    part_of BLOC-1 complex IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    part_of BLOC-1 complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    part_of BLOC-1 complex IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    located_in Schaffer collateral - CA1 synapse IEA
    Inferred from Electronic Annotation
    more info
     
    located_in axon ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in axon cytoplasm IEA
    Inferred from Electronic Annotation
    more info
     
    located_in cytoplasm ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in cytosol TAS
    Traceable Author Statement
    more info
     
    located_in dendritic spine ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in endoplasmic reticulum membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in endosome membrane IEA
    Inferred from Electronic Annotation
    more info
     
    located_in glutamatergic synapse IEA
    Inferred from Electronic Annotation
    more info
     
    located_in growth cone ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in hippocampal mossy fiber to CA3 synapse IEA
    Inferred from Electronic Annotation
    more info
     
    located_in melanosome membrane IEA
    Inferred from Electronic Annotation
    more info
     
    located_in microtubule cytoskeleton IDA
    Inferred from Direct Assay
    more info
     
    located_in midbody IDA
    Inferred from Direct Assay
    more info
     
    is_active_in neuron projection IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in neuron projection IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in neuronal cell body IEA
    Inferred from Electronic Annotation
    more info
     
    located_in nucleus ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in postsynaptic density IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in postsynaptic membrane IEA
    Inferred from Electronic Annotation
    more info
     
    located_in sarcolemma ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in sarcoplasm IEA
    Inferred from Electronic Annotation
    more info
     
    is_active_in synaptic vesicle membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in synaptic vesicle membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in synaptic vesicle membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
     

    General protein information

    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

    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_009309.1 RefSeqGene

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

    mRNA and Protein(s)

    1. NM_001271667.2NP_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_001271668.2NP_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/TrEMBL
      A6NFV8
      Related
      ENSP00000348183.4, ENST00000355917.7
      Conserved Domains (1) summary
      pfam04440
      Location:158302
      Dysbindin; Dysbindin (Dystrobrevin binding protein 1)
    3. NM_001271669.2NP_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/TrEMBL
      A0A087WYP9
      Related
      ENSP00000481997.1, ENST00000622898.4
      Conserved Domains (1) summary
      pfam04440
      Location:140284
      Dysbindin; Dysbindin (Dystrobrevin binding protein 1)
    4. NM_032122.5NP_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, BX394617
      Consensus CDS
      CCDS4534.1
      UniProtKB/Swiss-Prot
      A8K3V3, Q5THY3, Q5THY4, Q96EV8, Q96NV2, Q9H0U2, Q9H3J5
      UniProtKB/TrEMBL
      A0A0S2Z5U8
      Related
      ENSP00000341680.6, ENST00000344537.10
      Conserved Domains (2) summary
      pfam04440
      Location:175319
      Dysbindin; Dysbindin (Dystrobrevin binding protein 1)
      cl25732
      Location:2202
      SMC_N; RecF/RecN/SMC N terminal domain
    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, ENST00000338950.9
      Conserved Domains (1) summary
      pfam04440
      Location:175271
      Dysbindin; Dysbindin (Dystrobrevin binding protein 1)

    RNA

    1. NR_036448.3 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: 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_000006.12 Reference GRCh38.p14 Primary Assembly

      Range
      15522807..15663058 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047419395.1XP_047275351.1  dysbindin isoform X2

    2. XM_047419394.1XP_047275350.1  dysbindin isoform X1

    3. XM_011514937.3XP_011513239.1  dysbindin isoform X3

      UniProtKB/TrEMBL
      D6RJC6
      Related
      ENSP00000427239.1, ENST00000462989.6
      Conserved Domains (1) summary
      pfam04440
      Location:19163
      Dysbindin; Dysbindin (Dystrobrevin binding protein 1)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060930.1 Alternate T2T-CHM13v2.0

      Range
      15395977..15536251 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054356515.1XP_054212490.1  dysbindin isoform X2

    2. XM_054356514.1XP_054212489.1  dysbindin isoform X1

    3. XM_054356516.1XP_054212491.1  dysbindin isoform X3

      UniProtKB/TrEMBL
      D6RJC6