Seroatlas · Human Serome Atlas

VPS33B

Vacuolar protein sorting-associated protein 33B

Also known as: FLJ14848, VP33B_HUMAN

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

Protein identityUniProt · HPA

UniProt accession
Q9H267
Gene
VPS33B
Ensembl
ENSG00000184056
Chromosome
15
Canonical length
617 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 is a member of the Sec-1 domain family, and encodes the human ortholog of rat Vps33b which is homologous to the yeast class C Vps33 protein. The mammalian class C vacuolar protein sorting proteins are predominantly associated with late endosomes/lysosomes, and like their yeast counterparts, may mediate vesicle trafficking steps in the endosome/lysosome pathway. Mutations in this gene are associated with arthrogryposis-renal dysfunction-cholestasis syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014]

Canonical amino-acid sequenceUniProt

617 residues, UniProt reviewed canonical sequence.

>Q9H267|VPS33B
     1  MAFPHRPDAP ELPDFSMLKR LARDQLIYLL EQLPGKKDLF IEADLMSPLD RIANVSILKQ
    61  HEVDKLYKVE NKPALSSNEQ LCFLVRPRIK NMRYIASLVN ADKLAGRTRK YKVIFSPQKF
   121  YACEMVLEEE GIYGDVSCDE WAFSLLPLDV DLLSMELPEF FRDYFLEGDQ RWINTVAQAL
   181  HLLSTLYGPF PNCYGIGRCA KMAYELWRNL EEEEDGETKG RRPEIGHIFL LDRDVDFVTA
   241  LCSQVVYEGL VDDTFRIKCG SVDFGPEVTS SDKSLKVLLN AEDKVFNEIR NEHFSNVFGF
   301  LSQKARNLQA QYDRRRGMDI KQMKNFVSQE LKGLKQEHRL LSLHIGACES IMKKKTKQDF
   361  QELIKTEHAL LEGFNIREST SYIEEHIDRQ VSPIESLRLM CLLSITENGL IPKDYRSLKT
   421  QYLQSYGPEH LLTFSNLRRA GLLTEQAPGD TLTAVESKVS KLVTDKAAGK ITDAFSSLAK
   481  RSNFRAISKK LNLIPRVDGE YDLKVPRDMA YVFGGAYVPL SCRIIEQVLE RRSWQGLDEV
   541  VRLLNCSDFA FTDMTKEDKA SSESLRLILV VFLGGCTFSE ISALRFLGRE KGYRFIFLTT
   601  AVTNSARLME AMSEVKA

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against VPS33B 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
12 nTPM

Expression across tissuesHPA

Tissue

  • choroid plexus: 12 nTPM
  • skin: 11 nTPM
  • cerebral cortex: 9.1 nTPM
  • fallopian tube: 7.6 nTPM
  • parathyroid gland: 7.6 nTPM
  • spleen: 7.4 nTPM

Single-cell type

  • parietal cells: 7.1 nCPM
  • oocytes: 4.6 nCPM
  • early primary spermatocytes: 2.7 nCPM
  • sertoli cells: 2.5 nCPM
  • differentiating spermatogonia: 1.6 nCPM
  • late primary spermatocytes: 1.6 nCPM

Immune cell

  • non-classical monocyte: 14 nTPM
  • basophil: 13 nTPM
  • eosinophil: 12 nTPM
  • intermediate monocyte: 12 nTPM
  • naive CD8 T-cell: 11 nTPM
  • myeloid DC: 9.5 nTPM

Brain region

  • white matter: 9.3 nTPM
  • cerebral cortex: 7.9 nTPM
  • hypothalamus: 7.7 nTPM
  • thalamus: 6.9 nTPM
  • basal ganglia: 6.8 nTPM
  • medulla oblongata: 6.6 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about VPS33B.

Disease | AllUniProt

Conditions VPS33B is implicated in, by any mechanism.

  • Arthrogryposis, renal dysfunction, and cholestasis 1 (ARCS1) MIM:208085
  • Keratoderma-ichthyosis-deafness syndrome, autosomal recessive (KDIDAR) MIM:620009
  • Cholestasis, progressive familial intrahepatic, 12 (PFIC12) MIM:620010

Disease | GeneticClinVar

61 pathogenic / likely-pathogenic of 606 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)
0.96
gnomAD pLI
0
gnomAD missense Z
0.36
DepMap mean gene effect
0.01
DepMap dependency class
none

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

Molecular functions

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of VPS33B 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 VPS33B as an antibody target. Whether an autoantibody or antibody against VPS33B could matter depends on whether native VPS33B is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

VPS33B 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 VPS33B as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/VPS33B. 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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