DTNBP1

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]

Description

Dystrobrevin binding protein 1

Tissue specificity

Tissue enhanced (retina)

Subcell location

Microtubules, Midbody

Predicted location

Intracellular

Protein family

Disease related genes
Human disease related genes
Mapped to neXtProt
Mapped to UniProt SWISS-PROT
Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
Protein evidence (Kim et al 2014)

Chromosome

6 (15522807 - 15663058)

Ensembl ID

ENSG00000047579  (ver. 103.38)

Orthologs

Mouse Dtnbp1: ENSMUSG00000057531

UniProt

Q96EV8

neXtProt

NX_Q96EV8

Human splice variants
Mouse splice variants

Protein structure