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

Gene ID: 84062, updated on 9-Dec-2018

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

Genomic context

See DTNBP1 in Genome Data Viewer
Location:
6p22.3
Exon count:
14
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 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

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 Jun 15 11:32:44 2016

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Pathways from BioSystems

  • 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...

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
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
 
regulation of synaptic vesicle exocytosis IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
BLOC-1 complex IDA
Inferred from Direct Assay
more info
PubMed 
Schaffer collateral - CA1 synapse IEA
Inferred from Electronic Annotation
more info
 
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
 
glutamatergic synapse IEA
Inferred from Electronic Annotation
more info
 
growth cone ISS
Inferred from Sequence or Structural Similarity
more info
 
hippocampal mossy fiber to CA3 synapse IEA
Inferred from Electronic Annotation
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 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
 

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)

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, ENST00000344537.9
    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_036448.1 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 109 details...Open this link in a new tab

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000006.12 Reference GRCh38.p12 Primary Assembly

    Range
    15522801..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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