Gene Information
Gene NameMy031
OrganismHomo sapiens (Human)
Gene Length351
Protein NamesDysbindin (Biogenesis of lysosome-related organelles complex 1 subunit 8) (BLOC-1 subunit 8) (Dysbindin-1) (Dystrobrevin-binding protein 1) (Hermansky-Pudlak syndrome 7 protein) (HPS7 protein)
Target NameNA
Target TypeNA
Gene AgeNA
Evolutionary StageNA
AlphaFoldDBQ96EV8
Gene CardDTNBP1
Uniprot IDQ96EV8
PfamPF04440
In ASDno
Allosteric PredictionNA
Ortholog in AnimalsNA
OhnologsNA
ParalogsNA
TissueNA
Tissue SpecificityDetected in brain, in neurons and in neuropil. Isoform 1 is expressed in the cerebral cortex, and hippocampal frontal (HF). Specific expression in the posterior half of the superior temporal gyrus (pSTG). Higher expression of isoform 2 and 3 in the HF than in the pSTG while isoform 1 shows no difference in expression in these areas. In the HF, detected in dentate gyrus (DG) and in pyramidal cells of hippocampus CA2 and CA3 (at protein level). Expressed in all principal neuronal populations of the HF, namely pyramidal neurons in the subiculum and CA1-3, granule cells in the dense cell layer of the DG (DGg), and polymorph cells in the hilus of the DG (DGh). Maximal levels in CA2, CA3, and DGh. Isoform 2 not expressed in the cerebral cortex. {ECO:0000269|PubMed:16980328}.
Pharmacological Animal ModelsNA
Gene Ontology
(biological process)
Gene Ontology
(cellular component)
Gene Ontology
(molecular function)
PDB NA 
DBSNP rs16876589  rs17470454 
Subcellular location [CC][Isoform 1]: Cytoplasm {ECO:0000269|PubMed:21390302}. Cytoplasmic vesicle membrane {ECO:0000269|PubMed:21390302};
Peripheral membrane protein {ECO:0000269|PubMed:21390302};
Cytoplasmic side {ECO:0000269|PubMed:21390302}. Endosome membrane {ECO:0000269|PubMed:21390302};
Peripheral membrane protein {ECO:0000269|PubMed:21390302};
Cytoplasmic side {ECO:0000269|PubMed:21390302}. Melanosome membrane {ECO:0000269|PubMed:21390302};
Peripheral membrane protein {ECO:0000269|PubMed:21390302};
Cytoplasmic side {ECO:0000269|PubMed:21390302}. Postsynaptic density {ECO:0000269|PubMed:21390302}. Endoplasmic reticulum {ECO:0000250}. Nucleus {ECO:0000269|PubMed:21390302}. Note=Mainly cytoplasmic but shuttles between the cytoplasm and nucleus. Exported out of the nucleus via its NES in a XPO1-dependent manner. Nuclear localization is required for regulation of the expression of genes such as SYN1. Detected in neuron cell bodies, axons and dendrites. Mainly located to the postsynaptic density. Detected at tubulovesicular elements in the vicinity of the Golgi apparatus and of melanosomes. Occasionally detected at the membrane of pigmented melanosomes in cultured melanoma cells. The BLOC-1 complex associates with the BLOC-2 complex in early endosome-associated tubules.;
[Isoform 2]: Cytoplasm {ECO:0000269|PubMed:21390302}. Cytoplasmic vesicle membrane {ECO:0000269|PubMed:21390302};
Peripheral membrane protein {ECO:0000269|PubMed:21390302};
Cytoplasmic side {ECO:0000269|PubMed:21390302}. Cytoplasmic vesicle, secretory vesicle, synaptic vesicle membrane {ECO:0000269|PubMed:21390302};
Peripheral membrane protein {ECO:0000269|PubMed:21390302};
Cytoplasmic side {ECO:0000269|PubMed:21390302}. Endosome membrane {ECO:0000269|PubMed:21390302};
Peripheral membrane protein {ECO:0000269|PubMed:21390302};
Cytoplasmic side {ECO:0000269|PubMed:21390302}. Melanosome membrane {ECO:0000250};
Peripheral membrane protein {ECO:0000250};
Cytoplasmic side {ECO:0000250}. Postsynaptic cell membrane {ECO:0000269|PubMed:21390302}. Endoplasmic reticulum {ECO:0000250}. Nucleus {ECO:0000269|PubMed:21390302}. Note=Shuttles between the cytoplasm and nucleus. Exported out of the nucleus via its NES in a XPO1-dependent manner. Nuclear localization is required for regulation of the expression of genes such as SYN1. Mainly expressed in the dendritic spine. Predominantly a synaptic vesicle isoform but also highly expressed in the nucleus. The BLOC-1 complex associates with the BLOC-2 complex in early endosome-associated tubules. Associated with the AP-3 complex at presynaptic terminals.;
[Isoform 3]: Cytoplasm {ECO:0000269|PubMed:21390302}. Cytoplasmic vesicle membrane {ECO:0000269|PubMed:21390302};
Peripheral membrane protein {ECO:0000269|PubMed:21390302};
Cytoplasmic side {ECO:0000269|PubMed:21390302}. Cytoplasmic vesicle, secretory vesicle, synaptic vesicle membrane {ECO:0000269|PubMed:21390302};
Peripheral membrane protein {ECO:0000269|PubMed:21390302};
Cytoplasmic side {ECO:0000269|PubMed:21390302}. Endosome membrane {ECO:0000269|PubMed:21390302};
Peripheral membrane protein {ECO:0000269|PubMed:21390302};
Cytoplasmic side {ECO:0000269|PubMed:21390302}. Melanosome membrane {ECO:0000250};
Peripheral membrane protein {ECO:0000250};
Cytoplasmic side {ECO:0000250}. Postsynaptic cell membrane {ECO:0000269|PubMed:21390302}. Endoplasmic reticulum {ECO:0000250}. Note=Exclusivley cytoplasmic. Predominantly found in the postsynaptic density (PSD). Little association with synaptic vesicles. The BLOC-1 complex associates with the BLOC-2 complex in early endosome-associated tubules. Associated with the AP-3 complex at presynaptic terminals.
Mouse PG classificationNA
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