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Details on Person UniProt:Q6QNY0 BLOC1S3

Class:IdReferenceGeneProduct:220148
_chainChangeLogchain:1-202 added on Sat February 7 2015
_displayNameUniProt:Q6QNY0 BLOC1S3
_timestamp2024-11-03 19:35:19
chainchain:1-202
checksumEB072B856AB6B4CF
commentFUNCTION 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
descriptionrecommendedName: Biogenesis of lysosome-related organelles complex 1 subunit 3 shortName: BLOC-1 subunit 3
geneNameBLOC1S3
BLOS3
identifierQ6QNY0
isSequenceChangedFALSE
keywordAlbinism
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
nameBLOC1S3
referenceDatabase[ReferenceDatabase:2] UniProt
referenceGene[ReferenceDNASequence:8999345] ENSEMBL:ENSG00000189114 BLOC1S3 [Homo sapiens]
secondaryIdentifierBL1S3_HUMAN
B2RXB8
sequenceLength202
species[Species:48887] Homo sapiens
(referenceEntity)[EntityWithAccessionedSequence:429820] BLOC1S3 [cytosol] [Homo sapiens]
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No pathways have been reviewed or authored by UniProt:Q6QNY0 BLOC1S3 (220148)