| Gene Symbol | BLOC1S2 |
|---|---|
| Entrez Gene | 282991 |
| Alt Symbol | BLOS2, CEAP, CEAP11 |
| Species | Human |
| Gene Type | protein-coding |
| Description | biogenesis of lysosomal organelles complex-1, subunit 2 |
| Other Description | 11 kDa centrosome associated protein|BLOC-1 subunit 2|biogenesis of lysosome-related organelles complex 1 subunit 2|centrosomal 10 kDa protein|centrosome protein oncogene |
| Swissprots | Q8WUI8 Q5W040 B4DQV2 Q6QNY1 |
| Accessions | EAW49835 EAW49836 EAW49837 Q6QNY1 AB593084 BAJ84024 AK054697 AK298969 BAG61064 AY278457 AAQ19606 AY531265 AAT00461 BC020494 AAH20494 BF666010 BG545838 BG679165 BI753469 BU608851 BU740315 BX112121 CB118026 CB218039 CN340962 DB296446 DB456773 HY107885 HY165508 NM_001001342 NP_001001342 NM_001282436 NP_001269365 NM_001282437 NP_001269366 NM_001282438 NP_001269367 NM_001282439 NP_001269368 NM_173809 NP_776170 |
| 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. {ECO:0000269|PubMed:15102850, ECO:0000269|PubMed:15381421, ECO:0000269|PubMed:17182842}. |
| Subcellular Location | Cytoplasm, cytoskeleton, microtubule organizing center, centrosome {ECO:0000269|PubMed:15381421}. 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). {ECO:0000269|PubMed:15381421}. |