Seroatlas · Human Serome Atlas

VPS33A

Vacuolar protein sorting-associated protein 33A

Also known as: VP33A_HUMAN

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession
Q96AX1
Gene
VPS33A
Ensembl
ENSG00000139719
Chromosome
12
Canonical length
596 aa
Protein class
Disease related genes, Human disease related genes, Predicted intracellular proteins
Subcellular location
Nucleoplasm

OverviewNCBI Gene

This gene encodes a tethering protein and a core subunit of the homotypic fusion and protein sorting (HOPS) complex. The HOPS complex and a second endosomal tethering complex called the class C core vacuole/endosome tethering (CORVET) complex, perform diverse functions in endocytosis including membrane tethering, RabGTPase interaction, activation and proofreading of synaptic-soluble N-ethylmaleimide-sensitive factor attachment receptor (SNARE) assembly to drive membrane fusion, and endosome-to-cytoskeleton attachment. The HOPS complex controls endosome maturation as well as endosome traffic to the lysosome. This complex is essential for vacuolar fusion and is required for adaptor protein complex 3-dependent transport from the golgi to the vacuole. The encoded protein belongs to the Sec1/Munc18 (SM) family of SNARE-mediated membrane fusion regulators. Naturally occurring mutations in this gene are associated with a novel mucopolysaccharidosis-like disease. [provided by RefSeq, Apr 2017]

Canonical amino-acid sequenceUniProt

596 residues, UniProt reviewed canonical sequence.

>Q96AX1|VPS33A
     1  MAAHLSYGRV NLNVLREAVR RELREFLDKC AGSKAIVWDE YLTGPFGLIA QYSLLKEHEV
    61  EKMFTLKGNR LPAADVKNII FFVRPRLELM DIIAENVLSE DRRGPTRDFH ILFVPRRSLL
   121  CEQRLKDLGV LGSFIHREEY SLDLIPFDGD LLSMESEGAF KECYLEGDQT SLYHAAKGLM
   181  TLQALYGTIP QIFGKGECAR QVANMMIRMK REFTGSQNSI FPVFDNLLLL DRNVDLLTPL
   241  ATQLTYEGLI DEIYGIQNSY VKLPPEKFAP KKQGDGGKDL PTEAKKLQLN SAEELYAEIR
   301  DKNFNAVGSV LSKKAKIISA AFEERHNAKT VGEIKQFVSQ LPHMQAARGS LANHTSIAEL
   361  IKDVTTSEDF FDKLTVEQEF MSGIDTDKVN NYIEDCIAQK HSLIKVLRLV CLQSVCNSGL
   421  KQKVLDYYKR EILQTYGYEH ILTLHNLEKA GLLKPQTGGR NNYPTIRKTL RLWMDDVNEQ
   481  NPTDISYVYS GYAPLSVRLA QLLSRPGWRS IEEVLRILPG PHFEERQPLP TGLQKKRQPG
   541  ENRVTLIFFL GGVTFAEIAA LRFLSQLEDG GTEYVIATTK LMNGTSWIEA LMEKPF

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against VPS33A can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability
Other membrane
Secreted
No
Transmembrane segments
0
Mean surface accessibility (rSASA)
0.25
Highest tissue expression
9.7 nTPM

Expression across tissuesHPA

Tissue

  • retina: 9.7 nTPM
  • thymus: 9 nTPM
  • skeletal muscle: 8.1 nTPM
  • placenta: 8 nTPM
  • lymph node: 7.4 nTPM
  • pituitary gland: 7.3 nTPM

Single-cell type

  • choroid plexus epithelial cells: 32 nCPM
  • microglia: 28 nCPM
  • oligodendrocytes: 24 nCPM
  • brain excitatory neurons: 21 nCPM
  • other brain neurons: 20 nCPM
  • brain inhibitory neurons: 20 nCPM

Immune cell

  • basophil: 29 nTPM
  • eosinophil: 19 nTPM
  • T-reg: 19 nTPM
  • non-classical monocyte: 15 nTPM
  • NK-cell: 14 nTPM
  • intermediate monocyte: 13 nTPM

Brain region

  • white matter: 17 nTPM
  • cerebellum: 16 nTPM
  • hypothalamus: 16 nTPM
  • cerebral cortex: 16 nTPM
  • pons: 15 nTPM
  • thalamus: 15 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about VPS33A.

Disease | AllUniProt

Conditions VPS33A is implicated in, by any mechanism.

  • Mucopolysaccharidosis-plus syndrome (MPSPS) MIM:617303

Disease | GeneticClinVar

1 pathogenic / likely-pathogenic of 364 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

  • Mucopolysaccharidosis-plus syndrome

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)
0.44
gnomAD pLI
0.18
gnomAD missense Z
1.64
DepMap mean gene effect
-0.47
DepMap dependency class
selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 7% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of VPS33A in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads VPS33A as an antibody target. Whether an autoantibody or antibody against VPS33A could matter depends on whether native VPS33A is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

VPS33A is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.

Annotation status

The present source text does not explicitly label VPS33A as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/VPS33A. Study-independent annotations aggregated from UniProt, Human Protein Atlas, PubMed, IEDB, Pfam, InterPro, Gene Ontology, AlphaFold, gnomAD, DepMap, ClinVar, TCGA. Catalog release seroatlas-reviewed-human-uniprot-20260313.

Seroatlas is the reference for exploring autoantibody and antibody serology at the human-protein level: the autoreactome and human serome, multiplex serology (HuProt, HuScan, VirScan, PhIP-Seq).

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