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Details on Person UniProt:Q6QNY0 BLOC1S3
| Class:Id | ReferenceGeneProduct:220148 |
|---|---|
| _chainChangeLog | chain:1-202 added on Sat February 7 2015 |
| _displayName | UniProt:Q6QNY0 BLOC1S3 |
| _timestamp | 2024-11-03 19:35:19 |
| chain | chain:1-202 |
| checksum | EB072B856AB6B4CF |
| comment | 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.SUBUNIT Interacts with BLOC1S4, BLOC1S5 and BLOC1S6 (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 BLOC1S2.INTERACTION The disease is caused by variants affecting the gene represented in this entry.SIMILARITY Belongs to the BLOC1S3 family. |
| created | [InstanceEdit:217385] Schmidt, EE, 2008-03-27 06:23:53 |
| description | recommendedName: Biogenesis of lysosome-related organelles complex 1 subunit 3 shortName: BLOC-1 subunit 3 |
| geneName | BLOC1S3 BLOS3 |
| identifier | Q6QNY0 |
| isSequenceChanged | FALSE |
| keyword | Albinism Cytoplasm Hermansky-Pudlak syndrome Phosphoprotein Proteomics identification Reference proteome |
| modified | [InstanceEdit:9836292] Weiser, Joel, 2023-05-25 [InstanceEdit:9852000] Weiser, Joel, 2023-11-03 [InstanceEdit:9926675] Weiser, Joel, 2024-11-03 |
| name | BLOC1S3 |
| referenceDatabase | [ReferenceDatabase:2] UniProt |
| referenceGene | [ReferenceDNASequence:8999345] ENSEMBL:ENSG00000189114 BLOC1S3 [Homo sapiens] |
| secondaryIdentifier | BL1S3_HUMAN B2RXB8 |
| sequenceLength | 202 |
| species | [Species:48887] Homo sapiens |
| (referenceEntity) | [EntityWithAccessionedSequence:429820] BLOC1S3 [cytosol] [Homo sapiens] |
| [Change default viewing format] | |
No pathways have been reviewed or authored by UniProt:Q6QNY0 BLOC1S3 (220148)
