Aliases for BLOC1S5 Gene
External Ids for BLOC1S5 Gene
Previous HGNC Symbols for BLOC1S5 Gene
This gene encodes a component of BLOC-1 (biogenesis of lysosome-related organelles complex 1). Components of this complex are involved in the biogenesis of organelles such as melanosomes and platelet-dense granules. A mouse model for Hermansky-Pudlak Syndrome is mutated in the murine version of this gene. Alternative splicing results in multiple transcript variants. Read-through transcription exists between this gene and the upstream EEF1E1 (eukaryotic translation elongation factor 1 epsilon 1) gene, as well as with the downstream TXNDC5 (thioredoxin domain containing 5) gene. [provided by RefSeq, Dec 2010]
GeneCards Summary for BLOC1S5 Gene
BLOC1S5 (Biogenesis Of Lysosomal Organelles Complex-1, Subunit 5, Muted) is a Protein Coding gene. Diseases associated with BLOC1S5 include hermansky-pudlak syndrome. An important paralog of this gene is BLOC1S5-TXNDC5.
UniProtKB/Swiss-Prot for BLOC1S5 Gene
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.