Description: Homo sapiens biogenesis of lysosomal organelles complex-1, subunit 6, pallidin (BLOC1S6), mRNA. RefSeq Summary (NM_012388): The protein encoded by this gene may play a role in intracellular vesicle trafficking. It interacts with Syntaxin 13 which mediates intracellular membrane fusion. Mutations in this gene cause symptoms associated with Hermansky-Pudlak syndrome-9. Alternative splicing results in multiple transcript variants. A pseudogene related to this gene is located on the X chromosome. [provided by RefSeq, Aug 2015]. Transcript (Including UTRs) Position: hg19 chr15:45,879,417-45,901,909 Size: 22,493 Total Exon Count: 5 Strand: + Coding Region Position: hg19 chr15:45,879,642-45,898,712 Size: 19,071 Coding Exon Count: 5
ID:BL1S6_HUMAN DESCRIPTION: RecName: Full=Biogenesis of lysosome-related organelles complex 1 subunit 6; Short=BLOC-1 subunit 6; AltName: Full=Pallid protein homolog; AltName: Full=Pallidin; AltName: Full=Syntaxin 13-interacting protein; FUNCTION: Component of the BLOC-1 complex, a complex that is required for normal biogenesis of lysosome-related organelles (LRO), such as platelet dense granules and melanosomes. In concert with the AP-3 complex, the BLOC-1 complex is required to target membrane protein cargos into vesicles assembled at cell bodies for delivery into neurites and nerve terminals. The BLOC-1 complex, in association with SNARE proteins, is also proposed to be involved in neurite extension. May play a role in intracellular vesicle trafficking, particularly in the vesicle-docking and fusion process. SUBUNIT: Interacts with BLOC1S4 and DTNBP1/BLOC1S7 (By similarity). Homodimer. Component of the biogenesis of lysosome- related organelles complex 1 (BLOC-1) composed of BLOC1S1, BLOC1S2, BLOC1S3, BLOC1S4, BLOC1S5, BLOC1S6, DTNBP1/BLOC1S7 and SNAPIN/BLOC1S8. Octamer composed of one copy each BLOC1S1, BLOC1S2, BLOC1S3, BLOC1S4, BLOC1S5, BLOC1S6, DTNBP1/BLOC1S7 and SNAPIN/BLOC1S8. The BLOC-1 complex associates with the AP-3 protein complex and membrane protein cargos. Interacts with BLOC1S5, F-actin, SNAP25 isoform 1 and isoform 2, SNAP47 and STX12. INTERACTION: Self; NbExp=3; IntAct=EBI-465781, EBI-465781; P78537:BLOC1S1; NbExp=10; IntAct=EBI-465781, EBI-348630; Q6QNY1:BLOC1S2; NbExp=3; IntAct=EBI-465781, EBI-465872; Q6QNY0:BLOC1S3; NbExp=3; IntAct=EBI-465781, EBI-465930; Q9NUP1:CNO; NbExp=5; IntAct=EBI-465781, EBI-465852; Q96EV8:DTNBP1; NbExp=6; IntAct=EBI-465781, EBI-465804; Q8TDH9:MUTED; NbExp=2; IntAct=EBI-465781, EBI-465861; O95295:SNAPIN; NbExp=2; IntAct=EBI-465781, EBI-296723; SUBCELLULAR LOCATION: Cytoplasm. Endomembrane system; Peripheral membrane protein. Note=It can exist as a soluble protein as well as a peripheral membrane protein. TISSUE SPECIFICITY: Widely expressed. PTM: Phosphorylated. DISEASE: Defects in BLOC1S6 are the cause of Hermansky-Pudlak syndrome type 9 (HPS9) [MIM:614171]. A form of Hermansky-Pudlak syndrome, a genetically heterogeneous autosomal recessive disorder characterized by oculocutaneous albinism, bleeding due to platelet storage pool deficiency, and lysosomal storage defects. This syndrome results from defects of diverse cytoplasmic organelles including melanosomes, platelet dense granules and lysosomes. Ceroid storage in the lungs is associated with pulmonary fibrosis, a common cause of premature death in individuals with HPS. SIMILARITY: Belongs to the BLOC1S6 family.
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on Q9UL45
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
US Server
