Seroatlas · Human Serome Atlas

PEX5

Peroxisomal targeting signal 1 receptor

Also known as: PEX5_HUMAN, PTS1R, PXR1

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

Protein identityUniProt · HPA

UniProt accession: P50542
Gene: PEX5
Ensembl: ENSG00000139197
Chromosome: 12
Canonical length: 639 aa
Protein class: Disease related genes, Human disease related genes, Predicted intracellular proteins
Subcellular location: Golgi apparatus,Cytosol

OverviewNCBI Gene

The product of this gene binds to the C-terminal PTS1-type tripeptide peroxisomal targeting signal (SKL-type) and plays an essential role in peroxisomal protein import. 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 of neonatal adrenoleukodystrophy (NALD), a cause of Zellweger syndrome (ZWS) as well as may be a cause of infantile Refsum disease (IRD). Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Oct 2008]

Canonical amino-acid sequenceUniProt

639 residues, UniProt reviewed canonical sequence.

>P50542|PEX5
     1  MAMRELVEAE CGGANPLMKL AGHFTQDKAL RQEGLRPGPW PPGAPASEAA SKPLGVASED
    61  ELVAEFLQDQ NAPLVSRAPQ TFKMDDLLAE MQQIEQSNFR QAPQRAPGVA DLALSENWAQ
   121  EFLAAGDAVD VTQDYNETDW SQEFISEVTD PLSVSPARWA EEYLEQSEEK LWLGEPEGTA
   181  TDRWYDEYHP EEDLQHTASD FVAKVDDPKL ANSEFLKFVR QIGEGQVSLE SGAGSGRAQA
   241  EQWAAEFIQQ QGTSDAWVDQ FTRPVNTSAL DMEFERAKSA IESDVDFWDK LQAELEEMAK
   301  RDAEAHPWLS DYDDLTSATY DKGYQFEEEN PLRDHPQPFE EGLRRLQEGD LPNAVLLFEA
   361  AVQQDPKHME AWQYLGTTQA ENEQELLAIS ALRRCLELKP DNQTALMALA VSFTNESLQR
   421  QACETLRDWL RYTPAYAHLV TPAEEGAGGA GLGPSKRILG SLLSDSLFLE VKELFLAAVR
   481  LDPTSIDPDV QCGLGVLFNL SGEYDKAVDC FTAALSVRPN DYLLWNKLGA TLANGNQSEE
   541  AVAAYRRALE LQPGYIRSRY NLGISCINLG AHREAVEHFL EALNMQRKSR GPRGEGGAMS
   601  ENIWSTLRLA LSMLGQSDAY GAADARDLST LLTMFGLPQ

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against PEX5 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): 0.41
Highest tissue expression: 70 nTPM

Expression across tissuesHPA

Tissue

skeletal muscle: 70 nTPM
midbrain: 56 nTPM
spinal cord: 55 nTPM
basal ganglia: 51 nTPM
testis: 48 nTPM
hippocampal formation: 46 nTPM

Single-cell type

early spermatids: 244 nCPM
late primary spermatocytes: 64 nCPM
brain inhibitory neurons: 29 nCPM
brain excitatory neurons: 29 nCPM
late spermatids: 28 nCPM
other brain neurons: 24 nCPM

Immune cell

plasmacytoid DC: 4.6 nTPM
non-classical monocyte: 4.1 nTPM
MAIT T-cell: 3.6 nTPM
gdT-cell: 2.9 nTPM
memory CD8 T-cell: 2.9 nTPM
NK-cell: 2.8 nTPM

Brain region

thalamus: 53 nTPM
amygdala: 48 nTPM
spinal cord: 48 nTPM
cerebral cortex: 47 nTPM
basal ganglia: 46 nTPM
pons: 44 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about PEX5.

Disease | AllUniProt

Conditions PEX5 is implicated in, by any mechanism.

Peroxisome biogenesis disorder 2A (PBD2A) MIM:214110
Peroxisome biogenesis disorder 2B (PBD2B) MIM:202370
Rhizomelic chondrodysplasia punctata 5 (RCDP5) MIM:616716

Disease | GeneticClinVar

77 pathogenic / likely-pathogenic of 1,094 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Peroxisome biogenesis disorder 2B
Rhizomelic chondrodysplasia punctata type 5
Peroxisome biogenesis disorder 2A (Zellweger)
Peroxisome biogenesis disorder
PEX5-related disorder

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): 0.59
gnomAD pLI: 0
gnomAD missense Z: 0.68
DepMap mean gene effect: -0.03
DepMap dependency class: selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 9% 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 PEX5 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 PEX5 as an antibody target. Whether an autoantibody or antibody against PEX5 could matter depends on whether native PEX5 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

PEX5 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 PEX5 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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