Seroatlas · Human Serome Atlas

PEX3

Peroxisomal biogenesis factor 3

Also known as: PEX3_HUMAN

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

Protein identityUniProt · HPA

UniProt accession
P56589
Gene
PEX3
Ensembl
ENSG00000034693
Chromosome
6
Canonical length
373 aa
Protein class
Disease related genes, Human disease related genes, Potential drug targets, Predicted membrane proteins, Transporters
Subcellular location
Nucleoplasm,Peroxisomes

OverviewNCBI Gene

The product of this gene is involved in peroxisome biosynthesis and integrity. It assembles membrane vesicles before the matrix proteins are translocated. 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. The peroxisomal biogenesis disorders are a heterogeneous group with at least 14 complementation groups and with more than 1 phenotype being observed in cases falling into particular 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 Zellweger syndrome (ZWS). [provided by RefSeq, Oct 2008]

Canonical amino-acid sequenceUniProt

373 residues, UniProt reviewed canonical sequence.

>P56589|PEX3
     1  MLRSVWNFLK RHKKKCIFLG TVLGGVYILG KYGQKKIREI QEREAAEYIA QARRQYHFES
    61  NQRTCNMTVL SMLPTLREAL MQQLNSESLT ALLKNRPSNK LEIWEDLKII SFTRSTVAVY
   121  STCMLVVLLR VQLNIIGGYI YLDNAAVGKN GTTILAPPDV QQQYLSSIQH LLGDGLTELI
   181  TVIKQAVQKV LGSVSLKHSL SLLDLEQKLK EIRNLVEQHK SSSWINKDGS KPLLCHYMMP
   241  DEETPLAVQA CGLSPRDITT IKLLNETRDM LESPDFSTVL NTCLNRGFSR LLDNMAEFFR
   301  PTEQDLQHGN SMNSLSSVSL PLAKIIPIVN GQIHSVCSET PSHFVQDLLT MEQVKDFAAN
   361  VYEAFSTPQQ LEK

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against PEX3 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
2
Mean surface accessibility (rSASA)
0.31
Highest tissue expression
24 nTPM

Expression across tissuesHPA

Tissue

  • adrenal gland: 24 nTPM
  • parathyroid gland: 23 nTPM
  • liver: 23 nTPM
  • kidney: 17 nTPM
  • thyroid gland: 15 nTPM
  • choroid plexus: 12 nTPM

Single-cell type

  • pituitary stem cells: 122 nCPM
  • adrenal cortex cells: 113 nCPM
  • late primary spermatocytes: 79 nCPM
  • corticotrophs: 76 nCPM
  • brain inhibitory neurons: 68 nCPM
  • somatotrophs: 68 nCPM

Immune cell

  • memory B-cell: 23 nTPM
  • T-reg: 21 nTPM
  • naive CD4 T-cell: 21 nTPM
  • naive CD8 T-cell: 21 nTPM
  • naive B-cell: 19 nTPM
  • MAIT T-cell: 17 nTPM

Brain region

  • choroid plexus: 23 nTPM
  • white matter: 23 nTPM
  • hypothalamus: 19 nTPM
  • cerebral cortex: 18 nTPM
  • cerebellum: 17 nTPM
  • basal ganglia: 17 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about PEX3.

Disease | AllUniProt

Conditions PEX3 is implicated in, by any mechanism.

  • Peroxisome biogenesis disorder complementation group 12 (PBD-CG12) MIM:614882
  • Peroxisome biogenesis disorder 10A (PBD10A) MIM:614882
  • Peroxisome biogenesis disorder 10B (PBD10B) MIM:617370

Disease | GeneticClinVar

37 pathogenic / likely-pathogenic of 431 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)
0.56
gnomAD pLI
0.02
gnomAD missense Z
1.19
DepMap mean gene effect
0.01
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

  • Peroxin-3
  • Peroxin-3

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of PEX3 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 PEX3 as an antibody target. Whether an autoantibody or antibody against PEX3 could matter depends on whether native PEX3 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

PEX3 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 PEX3 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/PEX3. 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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