Seroatlas · Human Serome Atlas

VAC14

Protein VAC14 homolog

Also known as: ArPIKfyve, FLJ10305, TAX1BP2, VAC14_HUMAN

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

Protein identityUniProt · HPA

UniProt accession
Q08AM6
Gene
VAC14
Ensembl
ENSG00000103043
Chromosome
16
Canonical length
782 aa
Protein class
Disease related genes, Predicted intracellular proteins
Subcellular location
Vesicles,Cytosol

OverviewNCBI Gene

This gene encodes a scaffold protein that is a component of the PIKfyve protein kinase complex. This complex is responsible for the synthesis of phosphatidylinositol 3,5-bisphosphate, an important component of cellular membranes, from phosphatidylinositol 3-phosphate. Mice lacking a functional copy of this gene exhibit severe neurodegeneration. Mutations in the human gene have been identified in patients with a childhood onset progressive neurological disorder characterized by impaired movement, dystonia, and striatal abnormalities. [provided by RefSeq, May 2017]

Canonical amino-acid sequenceUniProt

782 residues, UniProt reviewed canonical sequence.

>Q08AM6|VAC14
     1  MNPEKDFAPL TPNIVRALND KLYEKRKVAA LEIEKLVREF VAQNNTVQIK HVIQTLSQEF
    61  ALSQHPHSRK GGLIGLAACS IALGKDSGLY LKELIEPVLT CFNDADSRLR YYACEALYNI
   121  VKVARGAVLP HFNVLFDGLS KLAADPDPNV KSGSELLDRL LKDIVTESNK FDLVSFIPLL
   181  RERIYSNNQY ARQFIISWIL VLESVPDINL LDYLPEILDG LFQILGDNGK EIRKMCEVVL
   241  GEFLKEIKKN PSSVKFAEMA NILVIHCQTT DDLIQLTAMC WMREFIQLAG RVMLPYSSGI
   301  LTAVLPCLAY DDRKKSIKEV ANVCNQSLMK LVTPEDDELD ELRPGQRQAE PTPDDALPKQ
   361  EGTASGGPDG SCDSSFSSGI SVFTAASTER APVTLHLDGI VQVLNCHLSD TAIGMMTRIA
   421  VLKWLYHLYI KTPRKMFRHT DSLFPILLQT LSDESDEVIL KDLEVLAEIA SSPAGQTDDP
   481  GPLDGPDLQA SHSELQVPTP GRAGLLNTSG TKGLECSPST PTMNSYFYKF MINLLKRFSS
   541  ERKLLEVRGP FIIRQLCLLL NAENIFHSMA DILLREEDLK FASTMVHALN TILLTSTELF
   601  QLRNQLKDLK TLESQNLFCC LYRSWCHNPV TTVSLCFLTQ NYRHAYDLIQ KFGDLEVTVD
   661  FLAEVDKLVQ LIECPIFTYL RLQLLDVKNN PYLIKALYGL LMLLPQSSAF QLLSHRLQCV
   721  PNPELLQTED SLKAAPKSQK ADSPSIDYAE LLQHFEKVQN KHLEVRHQRS GRGDHLDRRV
   781  VL

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against VAC14 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
26 nTPM

Expression across tissuesHPA

Tissue

  • liver: 26 nTPM
  • kidney: 26 nTPM
  • adrenal gland: 24 nTPM
  • skeletal muscle: 24 nTPM
  • lymph node: 23 nTPM
  • pancreas: 23 nTPM

Single-cell type

  • late spermatids: 608 nCPM
  • early spermatids: 112 nCPM
  • cdc: 98 nCPM
  • hofbauer cells: 93 nCPM
  • mast cells: 66 nCPM
  • extravillous trophoblasts: 57 nCPM

Immune cell

  • myeloid DC: 5.7 nTPM
  • eosinophil: 4.4 nTPM
  • naive B-cell: 3.9 nTPM
  • intermediate monocyte: 3.6 nTPM
  • non-classical monocyte: 3.6 nTPM
  • memory CD8 T-cell: 3.1 nTPM

Brain region

  • thalamus: 33 nTPM
  • white matter: 33 nTPM
  • medulla oblongata: 33 nTPM
  • hypothalamus: 33 nTPM
  • pons: 32 nTPM
  • cerebral cortex: 31 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about VAC14.

Disease | AllUniProt

Conditions VAC14 is implicated in, by any mechanism.

  • Striatonigral degeneration, childhood-onset (SNDC) MIM:617054

Disease | GeneticClinVar

15 pathogenic / likely-pathogenic of 537 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

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)
0.42
gnomAD pLI
0.19
gnomAD missense Z
2.17
DepMap mean gene effect
-0.13
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 VAC14 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 VAC14 as an antibody target. Whether an autoantibody or antibody against VAC14 could matter depends on whether native VAC14 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

VAC14 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 VAC14 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/VAC14. 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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