dysbindin; dysbindin-1; dystrobrevin-binding protein 1; Hermansky-Pudlak syndrome 7 protein; HPS7 protein; my031 protein (DTNBP1)

Function

• component of the BLOC-1 complex
• interacts with PLDN, SNAPAP & MUTED
• binds to DTNA & DTNB (may not be a physiologic)

Compartment

• cytoplasm, endosomes
• pre-synaptic vesicle membranes
• microtubules

Alternative splicing

named isoforms=2

Pathology

• defects associated with Hermansky-Pudlak syndrome 7

More general terms

• Hermansky-Pudlak syndrome 1 protein (HPS1, HPS)
• phosphoprotein

Additional terms

• dystrobrevin
• Hermansky-Pudlak syndrome

Component of

• biogenesis of lysosome-related organelles complex-1 (BLOC-1 complex)

Database

• Entrez gene: http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&cmd=Retrieve&dopt=Graphics&list_uids=84062
• Kegg: http://www.genome.jp/dbget-bin/www_bget?hsa:84062
• OMIM: https://mirror.omim.org/entry/203300
• OMIM: https://mirror.omim.org/entry/607145
• UniProt: http://www.uniprot.org/uniprot/Q96EV8.html