PEX14

Protein identityUniProt · HPA

UniProt accession

O75381

Gene

PEX14

Ensembl

ENSG00000142655

Chromosome

1

Canonical length

377 aa

Protein class

Disease related genes, Human disease related genes, Potential drug targets, Predicted membrane proteins, Transporters

Subcellular location

Nucleoli fibrillar center,Peroxisomes

OverviewNCBI Gene

This gene encodes an essential component of the peroxisomal import machinery. The protein is integrated into peroxisome membranes with its C-terminus exposed to the cytosol, and interacts with the cytosolic receptor for proteins containing a PTS1 peroxisomal targeting signal. The protein also functions as a transcriptional corepressor and interacts with a histone deacetylase. A mutation in this gene results in one form of Zellweger syndrome. [provided by RefSeq, Jul 2008]

Canonical amino-acid sequenceUniProt

377 residues, UniProt reviewed canonical sequence.

>O75381|PEX14
     1  MASSEQAEQP SQPSSTPGSE NVLPREPLIA TAVKFLQNSR VRQSPLATRR AFLKKKGLTD
    61  EEIDMAFQQS GTAADEPSSL GPATQVVPVQ PPHLISQPYS PAGSRWRDYG ALAIIMAGIA
   121  FGFHQLYKKY LLPLILGGRE DRKQLERMEA GLSELSGSVA QTVTQLQTTL ASVQELLIQQ
   181  QQKIQELAHE LAAAKATTST NWILESQNIN ELKSEINSLK GLLLNRRQFP PSPSAPKIPS
   241  WQIPVKSPSP SSPAAVNHHS SSDISPVSNE STSSSPGKEG HSPEGSTVTY HLLGPQEEGE
   301  GVVDVKGQVR MEVQGEEEKR EDKEDEEDEE DDDVSHVDEE DCLGVQREDR RGGDGQINEQ
   361  VEKLRRPEGA SNESERD

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against PEX14 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

1

Mean surface accessibility (rSASA)

0.59

Highest tissue expression

58 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about PEX14.

Disease | AllUniProt

Conditions PEX14 is implicated in, by any mechanism.

• Peroxisome biogenesis disorder complementation group K (PBD-CGK) MIM:614887
• Peroxisome biogenesis disorder 13A (PBD13A) MIM:614887

Disease | GeneticClinVar

8 pathogenic / likely-pathogenic of 532 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Peroxisome biogenesis disorder, complementation group K
• Peroxisome biogenesis disorder 13A (Zellweger)
• 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)

0.52

gnomAD pLI

0.23

gnomAD missense Z

1.27

DepMap mean gene effect

-0.07

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

• cellular response to reactive oxygen species
• microtubule anchoring
• negative regulation of DNA-binding transcription factor activity
• negative regulation of DNA-templated transcription
• negative regulation of protein binding
• peroxisome organization
• protein import into peroxisome matrix
• protein import into peroxisome matrix, docking
• protein import into peroxisome matrix, substrate release
• protein import into peroxisome matrix, translocation
• protein-containing complex assembly
• peroxisome transport along microtubule

Molecular functions

• beta-tubulin binding
• identical protein binding
• microtubule binding
• protein transmembrane transporter activity
• protein-macromolecule adaptor activity
• signaling receptor binding
• transcription corepressor activity

Cellular components

• cytosol
• fibrillar center
• membrane
• nucleus
• peroxisomal importomer complex
• peroxisomal membrane
• peroxisome
• protein-containing complex

Protein domainsUniProt · Pfam · InterPro

• Winged helix-like DNA-binding domain superfamily
• Peroxisome membrane anchor protein Pex14p, N-terminal
• Peroxisomal membrane protein 14
• Pex14 N-terminal domain

KeywordsUniProt

• Acetylation
• Membrane
• Peroxisome
• Peroxisome biogenesis disorder
• Phosphoprotein
• Protein transport
• Translocation
• Transmembrane
• Transmembrane helix
• Transport
• Zellweger syndrome

InteractionsUniProt · HPA

Protein binding partners of PEX14 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

• PEX13
• PEX19
• PEX5
• UBA52