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

Gene ID: 84062, updated on 26-Nov-2021

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
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
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Genomic context

See DTNBP1 in Genome Data Viewer
Location:
6p22.3
Exon count:
14
Annotation release Status Assembly Chr Location
109.20211119 current GRCh38.p13 (GCF_000001405.39) 6 NC_000006.12 (15522803..15663058, complement)
105.20201022 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 RNA, U6 small nuclear 645, pseudogene Neighboring gene Sharpr-MPRA regulatory region 1760 Neighboring gene uncharacterized LOC105374947 Neighboring gene uncharacterized LOC102724520 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

Homology

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 reorganization 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
PubMed 
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 brain development 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 gene expression IDA
Inferred from Direct Assay
more info
PubMed 
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 neuron death IEA
Inferred from Electronic Annotation
more info
 
involved_in negative regulation of protein binding IEA
Inferred from Electronic Annotation
more info
 
involved_in negative regulation of protein kinase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in negative regulation of protein serine/threonine kinase activity IEA
Inferred from Electronic Annotation
more info
 
involved_in neuron projection development IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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
PubMed 
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 localization to ciliary membrane IEA
Inferred from Electronic Annotation
more info
 
involved_in regulation of JUN kinase activity 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
PubMed 
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
PubMed 
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
PubMed 
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
PubMed 
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
PubMed 
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/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_001271669.2NP_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/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_032122.5NP_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
    Q96EV8
    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: Homo sapiens Updated Annotation Release 109.20211119

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000006.12 Reference GRCh38.p13 Primary Assembly

    Range
    15522803..15663058 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011514936.3XP_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 X6

    UniProtKB/TrEMBL
    D6RJC6
    Related
    ENSP00000427239.1, ENST00000462989.6
    Conserved Domains (1) summary
    pfam04440
    Location:19163
    Dysbindin; Dysbindin (Dystrobrevin binding protein 1)
  4. XM_024446567.1XP_024302335.1  dysbindin isoform X3

    Conserved Domains (1) summary
    pfam04440
    Location:42186
    Dysbindin; Dysbindin (Dystrobrevin binding protein 1)
  5. XM_017011348.1XP_016866837.1  dysbindin isoform X4

  6. XM_017011349.1XP_016866838.1  dysbindin isoform X5

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