PEX13
Peroxisomal membrane protein PEX13
Also known as: PEX13_HUMAN
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- Q92968
- Gene
- PEX13
- Ensembl
- ENSG00000162928
- Chromosome
- 2
- Canonical length
- 403 aa
- Protein class
- Disease related genes, Human disease related genes, Potential drug targets, Predicted intracellular proteins, Predicted membrane proteins, Transporters
- Subcellular location
- Peroxisomes
OverviewNCBI Gene
This gene encodes a peroxisomal membrane protein that binds the type 1 peroxisomal targeting signal receptor via a SH3 domain located in the cytoplasm. Mutations and deficiencies in peroxisomal protein importing and peroxisome assembly lead to peroxisomal biogenesis disorders, an example of which is Zellweger syndrome. [provided by RefSeq, Oct 2008]
Canonical amino-acid sequenceUniProt
403 residues, UniProt reviewed canonical sequence.
>Q92968|PEX13
1 MASQPPPPPK PWETRRIPGA GPGPGPGPTF QSADLGPTLM TRPGQPALTR VPPPILPRPS
61 QQTGSSSVNT FRPAYSSFSS GYGAYGNSFY GGYSPYSYGY NGLGYNRLRV DDLPPSRFVQ
121 QAEESSRGAF QSIESIVHAF ASVSMMMDAT FSAVYNSFRA VLDVANHFSR LKIHFTKVFS
181 AFALVRTIRY LYRRLQRMLG LRRGSENEDL WAESEGTVAC LGAEDRAATS AKSWPIFLFF
241 AVILGGPYLI WKLLSTHSDE VTDSINWASG EDDHVVARAE YDFAAVSEEE ISFRAGDMLN
301 LALKEQQPKV RGWLLASLDG QTTGLIPANY VKILGKRKGR KTVESSKVSK QQQSFTNPTL
361 TKGATVADSL DEQEAAFESV FVETNKVPVA PDSIGKDGEK QDLLocalizationUniProt · AlphaFold · HPA
Whether an antibody against PEX13 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
- 3
- Mean surface accessibility (rSASA)
- 0.55
- Highest tissue expression
- 23 nTPM
Expression across tissuesHPA
Tissue
- liver: 23 nTPM
- skeletal muscle: 14 nTPM
- testis: 14 nTPM
- prostate: 14 nTPM
- urinary bladder: 13 nTPM
- thyroid gland: 13 nTPM
Single-cell type
- urothelial cells: 186 nCPM
- late primary spermatocytes: 162 nCPM
- early spermatids: 110 nCPM
- esophageal apical cells: 104 nCPM
- syncytiotrophoblasts: 100 nCPM
- myonuclei: 91 nCPM
Immune cell
- basophil: 13 nTPM
- naive CD4 T-cell: 6.1 nTPM
- eosinophil: 5.9 nTPM
- memory CD4 T-cell: 5.8 nTPM
- memory B-cell: 5.5 nTPM
- memory CD8 T-cell: 5.5 nTPM
Brain region
- choroid plexus: 21 nTPM
- cerebellum: 20 nTPM
- white matter: 15 nTPM
- hypothalamus: 15 nTPM
- cerebral cortex: 15 nTPM
- midbrain: 15 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about PEX13.
Disease | AllUniProt
Conditions PEX13 is implicated in, by any mechanism.
- Peroxisome biogenesis disorder complementation group 13 (PBD-CG13) MIM:614883
- Peroxisome biogenesis disorder 11A (PBD11A) MIM:614883
- Peroxisome biogenesis disorder 11B (PBD11B) MIM:614885
Disease | GeneticClinVar
45 pathogenic / likely-pathogenic of 616 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
- Peroxisome biogenesis disorder 11A (Zellweger)
- Peroxisome biogenesis disorder 11B
- Peroxisome biogenesis disorder
- PEX13-related disorder
- Peroxisome biogenesis disorder 4A (Zellweger)
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)
- 1.01
- gnomAD pLI
- 0
- gnomAD missense Z
- -0.3
- DepMap mean gene effect
- -0.12
- DepMap dependency class
- selective
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
- cellular response to reactive oxygen species
- cerebral cortex cell migration
- fatty acid alpha-oxidation
- locomotory behavior
- microtubule-based peroxisome localization
- neuron migration
- protein import into peroxisome matrix, docking
- protein import into peroxisome matrix, translocation
- suckling behavior
Molecular functions
Cellular components
Protein domainsUniProt · Pfam · InterPro
- SH3 domain
- SH3-like domain superfamily
- Variant SH3 domain
- Peroxin 13, N-terminal
- Peroxin 13
- Peroxin 13, N-terminal region
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of PEX13 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 PEX13 as an antibody target. Whether an autoantibody or antibody against PEX13 could matter depends on whether native PEX13 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
PEX13 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 PEX13 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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