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dysbindin; dysbindin-1; dystrobrevin-binding protein 1; Hermansky-Pudlak syndrome 7 protein; HPS7 protein; my031 protein (DTNBP1)
Function:
1) component of the BLOC-1 complex
2) interacts with PLDN, SNAPAP & MUTED
3) 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
Related
dystrobrevin
Hermansky-Pudlak syndrome
General
Hermansky-Pudlak syndrome 1 protein (HPS1, HPS)
phosphoprotein
Properties
SIZE: entity length = 351 aa
MW = 39 kD
COMPARTMENT: cytoplasm
cell nucleus
golgi
endoplasmic reticulum
MOTIF: coiled coil {88-181}
Dysbindin {173-331}
MOTIF: Ser phosphorylation site {S316}
Ser phosphorylation site {S321}
Database Correlations
OMIM correlations
MORBIDMAP 607145
UniProt Q96EV8
Pfam PF04440
Entrez Gene 84062
Kegg hsa:84062
References
UniProt :accession Q96EV8
Component-of
biogenesis of lysosome-related organelles complex-1 (BLOC-1 complex)