Immunogen sequence: MLETLRERLL SVQQDFTSGL KTLSDKSREA KVKSKPRTVP FLPKYSAGLE LLSRYEDTWA ALHRRAKDCA SAGELVDSEV VMLSAHWEKK KTSLVELQEQ LQQLPALIAD LESMTANLTH LEASFEEVEN NLLHLEDLCG QCELERCKHM QSQQLENYKK NKRKELETFK AELDAEHAQK VLEMEHTQQM KLKERQKFFE EAFQQDMEQY LSTGYLQIAE RREPIGSMSS MEVNVDMLEQ MDLMDISDQE ALDVFLNSGG EENTVLSPAL GPESSTCQNE ITLQVPNPSE LRAKPPSSSS TCTDSATRDI SEGGESPVVQ SDEEEVQVDT ALATSHTDRE ATPDGGEDSD S; Positive Samples: HeLa, Jurkat, HepG2, MCF7, DU145; Cellular Location: Cell junction, Cytoplasm, Cytoplasmic side, Cytoplasmic vesicle, Cytoplasmic vesicle membrane, Endoplasmic reticulum, Endosome membrane, Melanosome membrane, Nucleus, Nucleus, Peripheral membrane protein, postsynaptic cell membrane, postsynaptic density, secretory vesicle, synapse, synaptic vesicle membrane
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.
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Protein Aliases: biogenesis of lysosomal organelles complex-1, subunit 8; Biogenesis of lysosome-related organelles complex 1 subunit 8; BLOC-1 subunit 8; distrobrevin binding protein 1; Dysbindin; Dysbindin-1; Dystrobrevin-binding protein 1; Hermansky-Pudlak syndrome 7 protein; Hermansky-Pudlak syndrome 7 protein homolog; HPS7 protein; HPS7 protein homolog; sandy
Gene Aliases: 5430437B18Rik; AW048963; BLOC1S8; DBND; DTNBP1; dysbindin; HPS7; My031; SDY