Seroatlas · Human Serome Atlas

VPS16

Vacuolar protein sorting-associated protein 16 homolog

Also known as: VPS16_HUMAN

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

Protein identityUniProt · HPA

UniProt accession: Q9H269
Gene: VPS16
Ensembl: ENSG00000215305
Chromosome: 20
Canonical length: 839 aa
Protein class: Disease related genes, Human disease related genes, Predicted intracellular proteins

OverviewNCBI Gene

Vesicle mediated protein sorting plays an important role in segregation of intracellular molecules into distinct organelles. Genetic studies in yeast have identified more than 40 vacuolar protein sorting (VPS) genes involved in vesicle transport to vacuoles. This gene encodes the human homolog of yeast class C Vps16 protein. The mammalian class C Vps proteins are predominantly associated with late endosomes/lysosomes, and like their yeast counterparts, may mediate vesicle trafficking steps in the endosome/lysosome pathway. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2009]

Canonical amino-acid sequenceUniProt

839 residues, UniProt reviewed canonical sequence.

>Q9H269|VPS16
     1  MDCYTANWNP LGDSAFYRKY ELYSMDWDLK EELRDCLVAA APYGGPIALL RNPWRKEKAA
    61  SVRPVLDIYS ASGMPLASLL WKSGPVVSLG WSAEEELLCV QEDGAVLVYG LHGDFRRHFS
   121  MGNEVLQNRV LDARIFHTEF GSGVAILTGA HRFTLSANVG DLKLRRMPEV PGLQSAPSCW
   181  TVLCQDRVAH ILLAVGPDLY LLDHAACSAV TPPGLAPGVS SFLQMAVSFT YRHLALFTDT
   241  GYIWMGTASL KEKLCEFNCN IRAPPKQMVW CSRPRSKERA VVVAWERRLM VVGDAPESIQ
   301  FVLDEDSYLV PELDGVRIFS RSTHEFLHEV PAASEEIFKI ASMAPGALLL EAQKEYEKES
   361  QKADEYLREI QELGQLTQAV QQCIEAAGHE HQPDMQKSLL RAASFGKCFL DRFPPDSFVH
   421  MCQDLRVLNA VRDYHIGIPL TYSQYKQLTI QVLLDRLVLR RLYPLAIQIC EYLRLPEVQG
   481  VSRILAHWAC YKVQQKDVSD EDVARAINQK LGDTPGVSYS DIAARAYGCG RTELAIKLLE
   541  YEPRSGEQVP LLLKMKRSKL ALSKAIESGD TDLVFTVLLH LKNELNRGDF FMTLRNQPMA
   601  LSLYRQFCKH QELETLKDLY NQDDNHQELG SFHIRASYAA EERIEGRVAA LQTAADAFYK
   661  AKNEFAAKAT EDQMRLLRLQ RRLEDELGGQ FLDLSLHDTV TTLILGGHNK RAEQLARDFR
   721  IPDKRLWWLK LTALADLEDW EELEKFSKSK KSPIGYLPFV EICMKQHNKY EAKKYASRVG
   781  PEQKVKALLL VGDVAQAADV AIEHRNEAEL SLVLSHCTGA TDGATADKIQ RARAQAQKK

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against VPS16 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): 0.26
Highest tissue expression: 27 nTPM

Expression across tissuesHPA

Tissue

cerebellum: 27 nTPM
spleen: 24 nTPM
thyroid gland: 23 nTPM
bone marrow: 22 nTPM
pancreas: 22 nTPM
endometrium: 22 nTPM

Single-cell type

foveolar cells: 41 nCPM
enterocytes: 39 nCPM
decidual stromal cells: 38 nCPM
hofbauer cells: 33 nCPM
early primary spermatocytes: 32 nCPM
kupffer cells: 32 nCPM

Immune cell

gdT-cell: 35 nTPM
NK-cell: 35 nTPM
myeloid DC: 32 nTPM
non-classical monocyte: 30 nTPM
eosinophil: 29 nTPM
classical monocyte: 26 nTPM

Brain region

medulla oblongata: 28 nTPM
pons: 27 nTPM
cerebral cortex: 26 nTPM
thalamus: 26 nTPM
choroid plexus: 25 nTPM
hypothalamus: 25 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about VPS16.

Disease | AllUniProt

Conditions VPS16 is implicated in, by any mechanism.

Dystonia 30 (DYT30) MIM:619291

Disease | GeneticClinVar

23 pathogenic / likely-pathogenic of 290 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Dystonia 30
VPS16-associated disorder
VPS16-related disorder
See cases

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): 0.82
gnomAD pLI: 0
gnomAD missense Z: 0.82
DepMap mean gene effect: -0.42
DepMap dependency class: selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 12% 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

Vps16, C-terminal
Vps16, C-terminal domain superfamily
Vps16, C-terminal region
Vps16, N-terminal
Vacuolar protein sorting-associated protein 16
Vps16, N-terminal region

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of VPS16 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 VPS16 as an antibody target. Whether an autoantibody or antibody against VPS16 could matter depends on whether native VPS16 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

VPS16 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 VPS16 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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