Seroatlas · Human Serome Atlas

VPS4A

Vacuolar protein sorting-associated protein 4A

Also known as: FLJ22197, SKD1, SKD1A, SKD2, VPS4, VPS4-1, VPS4A_HUMAN

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

Protein identityUniProt · HPA

UniProt accession
Q9UN37
Gene
VPS4A
Ensembl
ENSG00000132612
Chromosome
16
Canonical length
437 aa
Protein class
Disease related genes, Enzymes, Human disease related genes, Potential drug targets, Predicted intracellular proteins
Subcellular location
Midbody

OverviewNCBI Gene

The protein encoded by this gene is a member of the AAA protein family (ATPases associated with diverse cellular activities), and is the homolog of the yeast Vps4 protein. In humans, two paralogs of the yeast protein have been identified. The former share a high degree of aa sequence similarity with each other, and also with yeast Vps4 and mouse Skd1 proteins. The mouse Skd1 (suppressor of K+ transport defect 1) has been shown to be really an yeast Vps4 ortholog. Functional studies indicate that both human paralogs associate with the endosomal compartments, and are involved in intracellular protein trafficking, similar to Vps4 protein in yeast. The gene encoding this paralog has been mapped to chromosome 16; the gene for the other resides on chromosome 18. [provided by RefSeq, Jul 2008]

Canonical amino-acid sequenceUniProt

437 residues, UniProt reviewed canonical sequence.

>Q9UN37|VPS4A
     1  MTTSTLQKAI DLVTKATEED KAKNYEEALR LYQHAVEYFL HAIKYEAHSD KAKESIRAKC
    61  VQYLDRAEKL KDYLRSKEKH GKKPVKENQS EGKGSDSDSE GDNPEKKKLQ EQLMGAVVME
   121  KPNIRWNDVA GLEGAKEALK EAVILPIKFP HLFTGKRTPW RGILLFGPPG TGKSYLAKAV
   181  ATEANNSTFF SVSSSDLMSK WLGESEKLVK NLFELARQHK PSIIFIDEVD SLCGSRNENE
   241  SEAARRIKTE FLVQMQGVGN NNDGTLVLGA TNIPWVLDSA IRRRFEKRIY IPLPEEAARA
   301  QMFRLHLGST PHNLTDANIH ELARKTEGYS GADISIIVRD SLMQPVRKVQ SATHFKKVCG
   361  PSRTNPSMMI DDLLTPCSPG DPGAMEMTWM DVPGDKLLEP VVCMSDMLRS LATTRPTVNA
   421  DDLLKVKKFS EDFGQES

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against VPS4A 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)
0.31
Highest tissue expression
54 nTPM

Expression across tissuesHPA

Tissue

  • skeletal muscle: 54 nTPM
  • tongue: 31 nTPM
  • pancreas: 27 nTPM
  • heart muscle: 20 nTPM
  • parathyroid gland: 19 nTPM
  • salivary gland: 19 nTPM

Single-cell type

  • esophageal apical cells: 135 nCPM
  • esophageal suprabasal cells: 88 nCPM
  • extravillous trophoblasts: 83 nCPM
  • megakaryocytes: 80 nCPM
  • esophageal basal cells: 77 nCPM
  • syncytiotrophoblasts: 74 nCPM

Immune cell

  • memory CD8 T-cell: 14 nTPM
  • total PBMC: 14 nTPM
  • eosinophil: 13 nTPM
  • T-reg: 12 nTPM
  • non-classical monocyte: 12 nTPM
  • gdT-cell: 11 nTPM

Brain region

  • white matter: 33 nTPM
  • midbrain: 32 nTPM
  • basal ganglia: 32 nTPM
  • thalamus: 32 nTPM
  • pons: 32 nTPM
  • medulla oblongata: 31 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about VPS4A.

Disease | AllUniProt

Conditions VPS4A is implicated in, by any mechanism.

Disease | GeneticClinVar

7 pathogenic / likely-pathogenic of 112 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

  • Cerebellar hypoplasia-intellectual disability-congenital microcephaly-dystonia-anemia-growth retardation syndrome
  • Syndromic congenital hemolytic and dyserythropoietic anemia
  • Generalized dystonia

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)
0.35
gnomAD pLI
0.94
gnomAD missense Z
2.69
DepMap mean gene effect
-0.39
DepMap dependency class
selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 5% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Molecular functions

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of VPS4A 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 VPS4A as an antibody target. Whether an autoantibody or antibody against VPS4A could matter depends on whether native VPS4A is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

VPS4A 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 VPS4A as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/VPS4A. 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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