Version 5.4
Homo sapiens Gene: DTNBP1
Summary
InnateDB Gene IDBG-62935.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol DTNBP1
Gene Name dystrobrevin binding protein 1
Synonyms
Species Homo sapiens
Ensembl Gene ENSG00000047579
Encoded Proteins
IDBP-62937
dystrobrevin binding protein 1
IDBP-62939
dystrobrevin binding protein 1
IDBP-62941
dystrobrevin binding protein 1
IDBP-479356
dystrobrevin binding protein 1
IDBP-481788
dystrobrevin binding protein 1
IDBP-475881
dystrobrevin binding protein 1
IDBP-479299
dystrobrevin binding protein 1
IDBP-479796
dystrobrevin binding protein 1
IDBP-479758
dystrobrevin binding protein 1
IDBP-485173
dystrobrevin binding protein 1
IDBP-811168
dystrobrevin binding protein 1
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
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]
Gene Information
Type Protein coding
Genomic Location Chromosome 6:15522801-15663058
Strand Reverse strand
Band p22.3
Transcripts
ENST00000344537 ENSP00000341680
ENST00000355917 ENSP00000348183
ENST00000338950 ENSP00000344718
ENST00000462989 ENSP00000427239
ENST00000510395 ENSP00000424685
ENST00000515875 ENSP00000425495
ENST00000513680 ENSP00000424357
ENST00000509674 ENSP00000421797
ENST00000511762 ENSP00000427473
ENST00000506844 ENSP00000424202
ENST00000514651
ENST00000622898 ENSP00000481997
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 45 experimentally validated interaction(s) in this database.
They are also associated with 3 interaction(s) predicted by orthology.
Experimentally validated
Total 45 [view]
Protein-Protein 45 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 3 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0005515 protein binding
Biological Process
GO:0001956 positive regulation of neurotransmitter secretion
GO:0006892 post-Golgi vesicle-mediated transport
GO:0006996 organelle organization
GO:0007596 blood coagulation
GO:0008089 anterograde axon cargo transport
GO:0010628 positive regulation of gene expression
GO:0014059 regulation of dopamine secretion
GO:0031175 neuron projection development
GO:0031532 actin cytoskeleton reorganization
GO:0032438 melanosome organization
GO:0048490 anterograde synaptic vesicle transport
GO:0048812 neuron projection morphogenesis
GO:0060155 platelet dense granule organization
GO:0060159 regulation of dopamine receptor signaling pathway
GO:0061024 membrane organization
Cellular Component
GO:0005634 nucleus
GO:0005737 cytoplasm
GO:0005789 endoplasmic reticulum membrane
GO:0005829 cytosol
GO:0005886 plasma membrane
GO:0010008 endosome membrane
GO:0014069 postsynaptic density
GO:0016528 sarcoplasm
GO:0030054 cell junction
GO:0030424 axon
GO:0030426 growth cone
GO:0030672 synaptic vesicle membrane
GO:0031083 BLOC-1 complex
GO:0033162 melanosome membrane
GO:0042383 sarcolemma
GO:0043005 neuron projection
GO:0043197 dendritic spine
GO:0045211 postsynaptic membrane
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
ENSMUSG00000057531
View Gene Order
ENSBTAG00000012939
Not yet available
Pathways
NETPATH
REACTOME
REACT_19400
Golgi Associated Vesicle Biogenesis pathway
REACT_19187
Clathrin derived vesicle budding pathway
REACT_11235
trans-Golgi Network Vesicle Budding pathway
REACT_11123
Membrane Trafficking pathway
KEGG
INOH
PID NCI
Cross-References
SwissProt
TrEMBL
UniProt Splice Variant
Entrez Gene
UniGene Hs.571148
RefSeq NM_001271667 NM_001271668 NM_001271669 NM_032122 NM_183040 XM_005249447
HUGO
OMIM
CCDS CCDS4534 CCDS4535 CCDS75404 CCDS75405
HPRD 06190
IMGT
EMBL
GenPept
RNA Seq Atlas

If you use InnateDB for your research, please cite the following publication:

Breuer et al., InnateDB: systems biology of innate immunity and beyond - recent updates and continuing curation. Nucl. Acids Res. (2013) 41 (D1) 

InnateDB is being developed jointly by the Brinkman Laboratory (Simon Fraser University, British Columbia, Canada), the Hancock Laboratory (University of British Columbia, Vancouver, British Columbia) and the Lynn EMBL Australia Group (South Australian Health & Medical Research Institute and Flinders University, Adelaide, Australia).

Funding is currently provided by Allergen and EMBL Australia. Previous funding has been provided by Genome Canada, the Foundation for the National Institutes of Health through the Grand Challenges in Global Health initiative and by Teagasc. InnateDB curated interactions are licensed under the Design Science License. All other data is licensed under the terms of the originating database. Contact: innatedb-mail@sfu.ca