Seroatlas · Human Serome Atlas

PEX19

Peroxisomal biogenesis factor 19

Also known as: D1S2223E, HK33, PEX19_HUMAN, PMP1, PMPI, PXF, PXMP1

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

Protein identityUniProt · HPA

UniProt accession
P40855
Gene
PEX19
Ensembl
ENSG00000162735
Chromosome
1
Canonical length
299 aa
Protein class
Disease related genes, Human disease related genes, Potential drug targets, Predicted intracellular proteins, Transporters
Subcellular location
Peroxisomes

OverviewNCBI Gene

This gene is necessary for early peroxisomal biogenesis. It acts both as a cytosolic chaperone and as an import receptor for peroxisomal membrane proteins (PMPs). Peroxins (PEXs) are proteins that are essential for the assembly of functional peroxisomes. The peroxisome biogenesis disorders (PBDs) are a group of genetically heterogeneous autosomal recessive, lethal diseases characterized by multiple defects in peroxisome function. These disorders have at least 14 complementation groups, with more than one phenotype being observed for some complementation groups. Although the clinical features of PBD patients vary, cells from all PBD patients exhibit a defect in the import of one or more classes of peroxisomal matrix proteins into the organelle. Defects in this gene are a cause of Zellweger syndrome (ZWS), as well as peroxisome biogenesis disorder complementation group 14 (PBD-CG14), which is also known as PBD-CGJ. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2010]

Canonical amino-acid sequenceUniProt

299 residues, UniProt reviewed canonical sequence.

>P40855|PEX19
     1  MAAAEEGCSV GAEADRELEE LLESALDDFD KAKPSPAPPS TTTAPDASGP QKRSPGDTAK
    61  DALFASQEKF FQELFDSELA SQATAEFEKA MKELAEEEPH LVEQFQKLSE AAGRVGSDMT
   121  SQQEFTSCLK ETLSGLAKNA TDLQNSSMSE EELTKAMEGL GMDEGDGEGN ILPIMQSIMQ
   181  NLLSKDVLYP SLKEITEKYP EWLQSHRESL PPEQFEKYQE QHSVMCKICE QFEAETPTDS
   241  ETTQKARFEM VLDLMQQLQD LGHPPKELAG EMPPGLNFDL DALNLSGPPG ASGEQCLIM

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against PEX19 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)
0.47
Highest tissue expression
102 nTPM

Expression across tissuesHPA

Tissue

  • liver: 102 nTPM
  • tongue: 79 nTPM
  • adipose tissue: 75 nTPM
  • skeletal muscle: 62 nTPM
  • parathyroid gland: 38 nTPM
  • heart muscle: 37 nTPM

Single-cell type

  • adipocytes: 14 nCPM
  • hepatic stellate cells: 6.5 nCPM
  • megakaryocytes: 6.2 nCPM
  • early spermatids: 5.4 nCPM
  • late primary spermatocytes: 5 nCPM
  • lacrimal acinar cells: 4.5 nCPM

Immune cell

  • basophil: 9 nTPM
  • intermediate monocyte: 8.9 nTPM
  • non-classical monocyte: 6.6 nTPM
  • gdT-cell: 5.8 nTPM
  • classical monocyte: 5.6 nTPM
  • myeloid DC: 5.4 nTPM

Brain region

  • white matter: 49 nTPM
  • midbrain: 48 nTPM
  • pons: 47 nTPM
  • thalamus: 46 nTPM
  • hypothalamus: 46 nTPM
  • medulla oblongata: 45 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about PEX19.

Disease | AllUniProt

Conditions PEX19 is implicated in, by any mechanism.

  • Peroxisome biogenesis disorder complementation group 14 (PBD-CG14) MIM:614886
  • Peroxisome biogenesis disorder 12A (PBD12A) MIM:614886

Disease | GeneticClinVar

25 pathogenic / likely-pathogenic of 457 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)
0.94
gnomAD pLI
0
gnomAD missense Z
-0.78
DepMap mean gene effect
-0.11
DepMap dependency class
selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 13% 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

  • Pex19 protein
  • Pex19, C-terminal domain superfamily
  • Pex19 protein family

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of PEX19 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 PEX19 as an antibody target. Whether an autoantibody or antibody against PEX19 could matter depends on whether native PEX19 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

PEX19 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 PEX19 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/PEX19. 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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