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
dystrobrevin binding protein 1
dystrobrevin binding protein 1
dystrobrevin binding protein 1
dystrobrevin binding protein 1
dystrobrevin binding protein 1
dystrobrevin binding protein 1
dystrobrevin binding protein 1
dystrobrevin binding protein 1
dystrobrevin binding protein 1
dystrobrevin binding protein 1
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
Method
Confidence
Comments
SSD Ortholog
Ortholog supports species divergence
Not yet available
SSD Ortholog
Ortholog supports species divergence
Pathways
NETPATH
REACTOME
trans-Golgi Network Vesicle Budding pathway
Clathrin derived vesicle budding pathway
Golgi Associated Vesicle Biogenesis pathway
Membrane Trafficking pathway
KEGG
INOH
PID BIOCARTA
PID NCI
Cross-References
SwissProt
TrEMBL D6RAR7 D6RID1
UniProt Splice Variant
Entrez Gene 84062
UniGene
RefSeq NM_001271669 NM_001271667 NM_001271668 NM_032122 NM_183040 XM_005249447
HUGO HGNC:17328
OMIM 607145
CCDS CCDS75404 CCDS4534 CCDS4535 CCDS75405
HPRD
IMGT
EMBL AL021978 AL022343
GenPept
RNA Seq Atlas 84062