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FIGURE: 1 / 4
Positive Control: Daudi cell lysate, MCF-7 cell lysate, HL-60 cell lysate, human spleen tissue, mouse testis tissue, MCF-7.
Subcellular Location: Cell junction, Cell membrane, Cytoplasm, Cytoplasmic vesicle, Endoplasmic reticulum, Endosome, Membrane, Nucleus, Postsynaptic cell membrane, Synapse
Dtnbp1 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 are associated with Hermansky-Pudlak syndrome type 7. This protein may also be associated with schizophrenia.
For Research Use Only. Not for use in diagnostic procedures. Not for resale without express authorization.
Protein Aliases: biogenesis of lysosomal organelles complex-1, subunit 8; Biogenesis of lysosome-related organelles complex 1 subunit 8; BLOC-1 subunit 8; DKFZp564K192; DTBP1; Dysbindin; Dysbindin-1; Dystrobrevin-binding protein 1; FLJ30031; Hermansky-Pudlak syndrome 7 protein; Hermansky-Pudlak syndrome 7 protein homolog; HPS7 protein; HPS7 protein homolog; Hps7-like protein; MGC20210; OTTHUMP00000221462; OTTHUMP00000221485; RP1-147M19.1; sandy
Gene Aliases: 5430437B18Rik; AW048963; BLOC1S8; DBND; DTNBP1; dysbindin; HPS7; My031; SDY
UniProt ID: (Human) Q96EV8, (Mouse) Q91WZ8
Entrez Gene ID: (Human) 84062, (Mouse) 94245
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