UniProt Protein Function: | BLOC1S2: May play a role in cell proliferation. The BLOC-1 complex is required for normal biogenesis of lysosome-related organelles, such as platelet dense granules and melanosomes. Plays a role in intracellular vesicle trafficking. Belongs to the BLOC1S2 family. 2 isoforms of the human protein are produced by alternative splicing. |
UniProt Protein Details: | Chromosomal Location of Human Ortholog: 10q24.31 Cellular Component: centrosome; recycling endosome; mitochondrion; nucleus; gamma-tubulin complex Molecular Function:protein C-terminus binding; protein binding; gamma-tubulin binding Biological Process: induction of apoptosis via death domain receptors; platelet dense granule organization and biogenesis; melanosome organization and biogenesis; positive regulation of transcription, DNA-dependent; positive regulation of cell proliferation; anterograde synaptic vesicle transport; positive regulation of transcription from RNA polymerase II promoter; microtubule nucleation; anterograde axon cargo transport; neurite development |
NCBI Summary: | 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] |
UniProt Code: | Q6QNY1 |
NCBI GenInfo Identifier: | 47717129 |
NCBI Gene ID: | 282991 |
NCBI Accession: | NP_001001342.1 |
UniProt Secondary Accession: | Q6QNY1,Q9CWG9, Q32WR5, |
UniProt Related Accession: | Q6QNY1 |
Molecular Weight: | 11,489 Da |
NCBI Full Name: | biogenesis of lysosome-related organelles complex 1 subunit 2 isoform 2 |
NCBI Synonym Full Names: | biogenesis of lysosomal organelles complex-1, subunit 2 |
NCBI Official Symbol: | BLOC1S2 |
NCBI Official Synonym Symbols: | CEAP; BLOS2; CEAP11 |
NCBI Protein Information: | biogenesis of lysosome-related organelles complex 1 subunit 2; 11 kDa centrosome associated protein; BLOC-1 subunit 2; centrosomal 10 kDa protein; centrosome protein oncogene |
UniProt Protein Name: | Biogenesis of lysosome-related organelles complex 1 subunit 2 |
UniProt Synonym Protein Names: | Centrosome-associated protein |
Protein Family: | Biogenesis of lysosome-related organelles complex |
UniProt Gene Name: | BLOC1S2 |
UniProt Entry Name: | BL1S2_HUMAN |