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- Table of Contents
Facts about Dysbindin.
The BLOC-1 complicated, in association with SNARE proteins, is also proposed to be involved in neurite extension. Associates with the BLOC-2 complicated to facilitate the transfer of TYRP1 independent of AP-3 function.
Human | |
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Gene Name: | DTNBP1 |
Uniprot: | Q96EV8 |
Entrez: | 84062 |
Belongs to: |
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dysbindin family |
DKFZp564K192; dysbindin; dysbindin-1; dystrobrevin binding protein 1; Dystrobrevin-binding protein 1; FLJ30031; Hermansky-Pudlak syndrome 7 protein; HPS7 protein; HPS7DBND; MGC20210; My031; SDY
Mass (kDA):
39.493 kDA
Human | |
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Location: | 6p22.3 |
Sequence: | 6; NC_000006.12 (15522803..15663058, complement) |
Detected 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.
[Isoform 1]: Cytoplasm. Cytoplasmic vesicle membrane; Peripheral membrane protein; Cytoplasmic side. Endosome membrane; Peripheral membrane protein; Cytoplasmic side. Melanosome membrane; Peripheral membrane protein; Cytoplasmic side. Cell junction, synapse, postsynaptic density. Endoplasmic reticulum. Nucleus. 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 loc
PMID: 12923531 by Li W., et al. Hermansky-Pudlak syndrome type 7 (HPS-7) results from mutant dysbindin, a member of the biogenesis of lysosome-related organelles complex 1 (BLOC-1).
PMID: 15345706 by Numakawa T., et al. Evidence of novel neuronal functions of dysbindin, a susceptibility gene for schizophrenia.