Symbol: Name: ID: |
DTNBP1 dystrobrevin binding protein 1 GFS:6408 |
Gene name: | DTNBP1 |
Chromosome: | 6p22.3 |
Previous Symbols: | |
Previous Names: | |
Aliases: | Dysbindin, My031, HPS7, DBND |
Name Aliases: | |
Locus Type: | gene with protein product |
Mouse Genome Database ID: | MGI:2137586 | Rat Genome Database ID: | |
HGNC ID: | HGNC:17328 | RefSeq IDs: | NM_032122 |
Entrez Gene ID: | 84062 | Ensembl Gene ID: | ENSG00000047579 |
VEGA IDs: | OTTHUMG00000014295 | UniProt ID: | Q96EV8 |
UCSC ID: | uc003nbm.2 | OMIM ID: | 607145 |
Pubmed: | PMID11316798 | ||
CCDS IDs: | CCDSCCDS4534.1 CCDS CCDS4535.1 |
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)
Function: The BLOC-1 complex is required for normal biogenesis of lysosome-related organelles, such as platelet dense granules and melanosomes. Plays a role in intracellular vesicle trafficking. Plays a role in synaptic vesicle trafficking and in neurotransmitter release. May be required for normal dopamine homeostasis in the cerebral cortex, hippocampus, and hypothalamus. Plays a role in the regulation of cell surface exposure of DRD2. Contributes to the regulation of dopamine signaling. May play a role in actin cytoskeleton reorganization and neurite outgrowth. May modulate MAPK8 phosphorylation.
Products for DTNBP1 gene
Catalog | Product Name | Application | Company |
GFS:E06408 | dystrobrevin binding protein 1; ELISA kit | ELISA | n/a |
GFS:A06408 | dystrobrevin binding protein 1; Anti | ANTIBODIES | n/a |
GFS:P06408 | dystrobrevin binding protein 1; Protien | Protien | n/a |