Human Gene BLOC1S2 (uc001kqw.2) Description and Page Index
Description: Homo sapiens biogenesis of lysosomal organelles complex-1, subunit 2 (BLOC1S2), transcript variant 1, mRNA. RefSeq Summary (NM_173809): This gene encodes a protein with multiple functions. The encoded protein has been found in association with the centrosome, shown to co-localize with gamma-tubulin, and also found to be one of the proteins in the BLOC-1 complex which functions in the formation of lysosome-related organelles. A pseudogene of this gene is located on the X chromosome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2012]. Transcript (Including UTRs) Position: hg19 chr10:102,033,035-102,046,469 Size: 13,435 Total Exon Count: 5 Strand: - Coding Region Position: hg19 chr10:102,035,219-102,046,416 Size: 11,198 Coding Exon Count: 5
ID:BL1S2_HUMAN DESCRIPTION: RecName: Full=Biogenesis of lysosome-related organelles complex 1 subunit 2; Short=BLOC-1 subunit 2; AltName: Full=Centrosome-associated 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. Plays a role in intracellular vesicle trafficking. May play a role in cell proliferation. SUBUNIT: Interacts with IFT57 (By similarity). 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 directly with BLOC1S1, BLOC1S3, BLOC1S4, BLOC1S5 and SNAPIN. Interacts with gamma-tubulin. INTERACTION: P78537:BLOC1S1; NbExp=3; IntAct=EBI-465872, EBI-348630; Q6QNY0:BLOC1S3; NbExp=3; IntAct=EBI-465872, EBI-465930; Q96EV8:DTNBP1; NbExp=6; IntAct=EBI-465872, EBI-465804; Q9NWB7:IFT57; NbExp=3; IntAct=EBI-465872, EBI-725672; Q8TDH9:MUTED; NbExp=2; IntAct=EBI-465872, EBI-465861; Q9UL45:PLDN; NbExp=3; IntAct=EBI-465872, EBI-465781; O95295:SNAPIN; NbExp=7; IntAct=EBI-465872, EBI-296723; SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton, centrosome. Note=Localizes to the centrosomes in a microtubule-dependent manner. TISSUE SPECIFICITY: Isoform 1 and isoform 2 are widely expressed. Expressed in various malignant tumor tissues (at protein level). SIMILARITY: Belongs to the BLOC1S2 family. SEQUENCE CAUTION: Sequence=AAH20494.1; Type=Erroneous initiation; Note=Translation N-terminally extended; Sequence=CAH72396.1; Type=Erroneous gene model prediction; Sequence=CAH72821.1; Type=Erroneous gene model prediction;
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 Q6QNY1
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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.