DTNBP1 Q96EV8

Dysbindin (溶酶体相关细胞器生物发生复合物1亚基8) (BLOC-1亚基8) (Dysbindin-1) (Dystrobrevin结合蛋白1) (Hermansky-Pudlak综合征7蛋白) (HPS7蛋白)

功能描述

BLOC-1复合体的组分，该复合体是溶酶体相关细胞器（LRO）（如血小板致密颗粒和黑素体）正常生物发生所必需的。与AP-3复合体协同，BLOC-1复合体是将在细胞体组装的囊泡中的膜蛋白货物靶向递送至神经突和神经末梢所必需的。据提议，BLOC-1复合体与SNARE蛋白结合，也参与神经突延伸。与BLOC-2复合体结合，以不依赖AP-3功能的方式促进TYRP1的转运。在突触囊泡运输和神经递质释放中起作用。在DRD2的细胞表面暴露调节中起作用。可能在肌动蛋白细胞骨架重组和神经突生长中起作用。可能调节MAPK8磷酸化。似乎通过调节SNAP25和SYN1的表达、调节PI3-kinase-Akt信号传导以及影响谷氨酸能释放来促进神经元传递和活力。通过结合启动子调节SYN1的表达。通过多巴胺/D2途径调节前额叶皮层活动。 {ECO:0000269|PubMed:15345706, ECO:0000269|PubMed:16837549, ECO:0000269|PubMed:17182842, ECO:0000269|PubMed:17989303, ECO:0000269|PubMed:19094965, ECO:0000269|PubMed:20180862, ECO:0000269|PubMed:20921223}。

组织特异性

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.

亚细胞定位

[Isoform 1]: Cytoplasm