Mus musculus Gene: Dtnbp1
Summary
InnateDB Gene IDBG-147898.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol Dtnbp1
Gene Name dystrobrevin binding protein 1
Synonyms 5430437B18Rik; AW048963; Bloc1s8; dysbindin; sdy
Species Mus musculus
Ensembl Gene ENSMUSG00000057531
Encoded Proteins
dystrobrevin binding protein 1
dystrobrevin binding protein 1
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary This gene does not have any Entrez summary - the following is the summary from its human ortholog ENSG00000047579:
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 13:44922079-45002096
Strand Reverse strand
Band A5
Transcripts
ENSMUST00000072329 ENSMUSP00000072170
ENSMUST00000110128 ENSMUSP00000105755
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 7 experimentally validated interaction(s) in this database.
They are also associated with 37 interaction(s) predicted by orthology.
Experimentally validated
Total 7 [view]
Protein-Protein 7 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 37 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0005515 protein binding
Biological Process
GO:0001956 positive regulation of neurotransmitter secretion
GO:0006996 organelle organization
GO:0007517 muscle organ development
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:0048490 anterograde synaptic vesicle transport
GO:0048812 neuron projection morphogenesis
GO:0060155 platelet dense granule organization
GO:0060159 regulation of dopamine receptor signaling pathway
Cellular Component
GO:0005634 nucleus
GO:0005737 cytoplasm
GO:0005789 endoplasmic reticulum membrane
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
Homo sapiens
Bos taurus
Gene ID
Gene Order
Not yet available
Pathways
NETPATH
REACTOME
Membrane Trafficking pathway
Golgi Associated Vesicle Biogenesis pathway
trans-Golgi Network Vesicle Budding pathway
Clathrin derived vesicle budding pathway
KEGG
INOH
PID NCI
Pathway Predictions based on Human Orthology Data
NETPATH
REACTOME
Golgi Associated Vesicle Biogenesis pathway
Clathrin derived vesicle budding pathway
trans-Golgi Network Vesicle Budding pathway
Membrane Trafficking pathway
KEGG
INOH
PID NCI
Cross-References
SwissProt Q91WZ8
TrEMBL K3W4R3
UniProt Splice Variant
Entrez Gene 94245
UniGene Mm.352311
RefSeq NM_025772
OMIM
CCDS CCDS36647
HPRD
IMGT
MGI ID MGI:2137586
MGI Symbol Dtnbp1
EMBL AC159210 AC166074 AJ404859 AK010924 AK159656 AY265461 BC018350 BC048682 BC058574
GenPept AAH18350 AAH48682 AAH58574 AAP91871 BAB27270 BAE35265 CAC37976
RNA Seq Atlas 94245