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Details on Person UniProt:Q96AX1 VPS33A

Class:IdReferenceGeneProduct:67242
_chainChangeLogchain:1-596 added on Fri February 6 2015
_displayNameUniProt:Q96AX1 VPS33A
_timestamp2024-11-03 19:44:12
chainchain:1-596
checksum12442A1D9A223F56
commentFUNCTION Plays a role in vesicle-mediated protein trafficking to lysosomal compartments including the endocytic membrane transport and autophagic pathways. Believed to act as a core component of the putative HOPS and CORVET endosomal tethering complexes which are proposed to be involved in the Rab5-to-Rab7 endosome conversion probably implicating MON1A/B, and via binding SNAREs and SNARE complexes to mediate tethering and docking events during SNARE-mediated membrane fusion. The HOPS complex is proposed to be recruited to Rab7 on the late endosomal membrane and to regulate late endocytic, phagocytic and autophagic traffic towards lysosomes. The CORVET complex is proposed to function as a Rab5 effector to mediate early endosome fusion probably in specific endosome subpopulations (PubMed:23351085, PubMed:24554770, PubMed:25266290, PubMed:25783203). Required for fusion of endosomes and autophagosomes with lysosomes; the function is dependent on its association with VPS16 but not VIPAS39 (PubMed:25783203). The function in autophagosome-lysosome fusion implicates STX17 but not UVRAG (PubMed:24554770).SUBUNIT Core component of at least two putative endosomal tethering complexes, the homotypic fusion and vacuole protein sorting (HOPS) complex and the class C core vacuole/endosome tethering (CORVET) complex. Their common core is composed of the class C Vps proteins VPS11, VPS16, VPS18 and VPS33A, which in HOPS further associates with VPS39 and VPS41 and in CORVET with VPS8 and TGFBRAP1 (PubMed:23351085, PubMed:23901104, PubMed:25266290, PubMed:25783203, PubMed:28013294). Interacts with RAB5C (By similarity). Interacts with UVRAG, STX17, MON1A and MON1B (PubMed:18552835, PubMed:20434987, PubMed:24554770, PubMed:28013294). Interacts with VIPAS39; however, this interaction is debated (PubMed:19109425, PubMed:23901104). Associates with adaptor protein complex 3 (AP-3) and clathrin (PubMed:21411634). Interacts with PLEKHM1 (PubMed:28325809).INTERACTION The disease is caused by variants affecting the gene represented in this entry.SIMILARITY Belongs to the STXBP/unc-18/SEC1 family.
descriptionrecommendedName: Vacuolar protein sorting-associated protein 33A shortName: hVPS33A
geneNameVPS33A
identifierQ96AX1
isSequenceChangedFALSE
keyword3D-structure
Autophagy
Cytoplasmic vesicle
Disease variant
Endosome
Lysosome
Membrane
Mucopolysaccharidosis
Protein transport
Proteomics identification
Reference proteome
Transport
modified[InstanceEdit:9836292] Weiser, Joel, 2023-05-25
[InstanceEdit:9852000] Weiser, Joel, 2023-11-03
[InstanceEdit:9917590] Weiser, Joel, 2024-08-09
[InstanceEdit:9926675] Weiser, Joel, 2024-11-03
nameVPS33A
referenceDatabase[ReferenceDatabase:2] UniProt
referenceGene[ReferenceDNASequence:8962504] ENSEMBL:ENSG00000139719 VPS33A [Homo sapiens]
secondaryIdentifierVP33A_HUMAN
Q547V4
Q9H5Q0
sequenceLength596
species[Species:48887] Homo sapiens
(referenceEntity)[EntityWithAccessionedSequence:2197804] VPS33A [endosome membrane] [Homo sapiens]
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