HPS7

DTNBP1

Identifiers

DTNBP1, BLOC1S8, DBND, HPS7, My031, SDY, dystrobrevin binding protein 1

External IDs

Gene ontology
Molecular function	• protein binding
Cellular component	• cytoplasm • cytosol • endosome • postsynaptic membrane • endoplasmic reticulum membrane • membrane • postsynaptic density • growth cone • BLOC-1 complex • plasma membrane • dendritic spine • synapse • synaptic vesicle membrane • melanosome membrane • axon • cell junction • endoplasmic reticulum • sarcoplasm • neuron projection • sarcolemma • endosome membrane • cytoplasmic vesicle membrane • cytoplasmic vesicle • nucleus • axon cytoplasm • microtubule cytoskeleton • midbody
Biological process	• actin cytoskeleton reorganization • regulation of dopamine secretion • neuron projection morphogenesis • platelet dense granule organization • response to stimulus • regulation of dopamine receptor signaling pathway • positive regulation of neurotransmitter secretion • blood coagulation • organelle organization • anterograde axonal transport • melanosome organization • positive regulation of gene expression • anterograde synaptic vesicle transport • neuron projection development • regulation of JUN kinase activity • negative regulation of protein serine/threonine kinase activity • dendrite morphogenesis • negative regulation of protein binding
Sources:Amigo / QuickGO

Orthologs

Species

Human

Mouse

Entrez


84062


94245


ENSG00000047579


ENSMUSG00000057531


Q96EV8


Q91WZ8

RefSeq (mRNA)


NM_001271667 NM_001271668 NM_001271669 NM_032122 NM_183040


NM_025772

RefSeq (protein)


NP_001258596 NP_001258597 NP_001258598 NP_115498 NP_898861


NP_080048.2 NP_080048

Location (UCSC)

PubMed search

Dysbindin, short for dystrobrevin-binding protein 1, is a protein constituent of the dystrophin-associated protein complex (DPC) of skeletal muscle cells. It is also a part of BLOC-1, or biogenesis of lysosome-related organelles complex 1. Dysbindin was discovered by the research group of Derek Blake via yeast two-hybrid screening for binding partners of α-dystrobrevin. In addition, dysbindin is found in neural tissue of the brain, particularly in axon bundles and especially in certain axon terminals, notably synaptic terminals in the cerebellum and hippocampus. In humans, dysbindin is encoded by the DTNBP1 gene.