UniProt 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. |
UniProt Protein Details: | |
NCBI Summary: | 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] |
UniProt Code: | Q8TDH9 |
NCBI GenInfo Identifier: | 313482848 |
NCBI Gene ID: | 63915 |
NCBI Accession: | NP_001186251.1 |
UniProt Secondary Accession: | Q8TDH9,Q0VDJ6, Q0VDJ7, Q5THS1, Q68D56, Q8N5F9, Q9NU16 B4DVM2 |
UniProt Related Accession: | Q8TDH9 |
Molecular Weight: | 14,893 Da |
NCBI Full Name: | biogenesis of lysosome-related organelles complex 1 subunit 5 isoform 2 |
NCBI Synonym Full Names: | biogenesis of lysosomal organelles complex 1 subunit 5 |
NCBI Official Symbol: | BLOC1S5Â Â |
NCBI Official Synonym Symbols: | MU; BLOS5; MUTEDÂ Â |
NCBI Protein Information: | biogenesis of lysosome-related organelles complex 1 subunit 5 |
UniProt Protein Name: | Biogenesis of lysosome-related organelles complex 1 subunit 5 |
UniProt Synonym Protein Names: | Protein Muted homolog |
Protein Family: | |
UniProt Gene Name: | BLOC1S5Â Â |
UniProt Entry Name: | |