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PEX14 peroxisomal biogenesis factor 14 [ Homo sapiens (human) ]

Gene ID: 5195, updated on 13-Mar-2020

Summary

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Official Symbol
PEX14provided by HGNC
Official Full Name
peroxisomal biogenesis factor 14provided by HGNC
Primary source
HGNC:HGNC:8856
See related
Ensembl:ENSG00000142655 MIM:601791
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
NAPP2; PBD13A; Pex14p; dJ734G22.2
Summary
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]
Expression
Ubiquitous expression in prostate (RPKM 3.2), urinary bladder (RPKM 3.0) and 25 other tissues See more
Orthologs
mouse all

Genomic context

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See PEX14 in Genome Data Viewer
Location:
1p36.22
Exon count:
14
Annotation release Status Assembly Chr Location
109.20200228 current GRCh38.p13 (GCF_000001405.39) 1 NC_000001.11 (10474946..10630758)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (10535003..10690815)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene CENPS-CORT readthrough Neighboring gene cortistatin Neighboring gene DNA fragmentation factor subunit alpha Neighboring gene RNA, 7SL, cytoplasmic 614, pseudogene Neighboring gene castor zinc finger 1 Neighboring gene VISTA enhancer hs289 Neighboring gene VISTA enhancer hs389

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. First Japanese case of Zellweger syndrome with a mutation in PEX14. Komatsuzaki S, et al. Pediatr Int, 2015 Dec. PMID 26627464
  2. Identification of a novel PEX14 mutation in Zellweger syndrome. Huybrechts SJ, et al. J Med Genet, 2008 Jun. PMID 18285423
  3. A novel Pex14 protein-interacting site of human Pex5 is critical for matrix protein import into peroxisomes. Neuhaus A, et al. J Biol Chem, 2014 Jan 3. PMID 24235149, Free PMC Article
  4. Identification of a new complementation group of the peroxisome biogenesis disorders and PEX14 as the mutated gene. Shimozawa N, et al. Hum Mutat, 2004 Jun. PMID 15146459
  5. The peroxisomal matrix protein translocon is a large cavity-forming protein assembly into which PEX5 protein enters to release its cargo. Dias AF, et al. J Biol Chem, 2017 Sep 15. PMID 28765278, Free PMC Article

See all (62) citations in PubMed

See citations in PubMed for homologs of this gene provided by HomoloGene

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Data suggest that soluble/cytosolic PEX5 interacts with PEX14/PEX13 complex, a model for the docking/translocation module (DTM) of the peroxisomal matrix protein translocon; PEX14/PEX13 complex appears to function in peroxisomal membrane as large cavity into which cytosolic PEX5 can enter to release its cargo. (PEX = peroxisomal biogenesis factor)
    Title: The peroxisomal matrix protein translocon is a large cavity-forming protein assembly into which PEX5 protein enters to release its cargo.
  2. data reveal subpopulations of peroxisomes showing only weak colocalization between PEX14 and PEX5 or PEX11 but at the same time a clear compartmentalized organization. This compartmentalization, which was less evident in cases of strong colocalization, indicates dynamic protein reorganization linked to changes occurring in the peroxisomes.
    Title: Super-resolution Microscopy Reveals Compartmentalization of Peroxisomal Membrane Proteins.
  3. PEX14 is the 13th PEX gene responsible for peroxisome biogenesis disorders. Thus far, only two patients with PEX14 deficiency have been reported.
    Title: First Japanese case of Zellweger syndrome with a mutation in PEX14.
  4. The novel Pex14-binding site may represent the initial tethering site of Pex5 from which the cargo-loaded receptor is further processed in a sequential manner.
    Title: A novel Pex14 protein-interacting site of human Pex5 is critical for matrix protein import into peroxisomes.
  5. interaction of PEX5 with catalase and PEX14
    Title: PEX5 protein binds monomeric catalase blocking its tetramerization and releases it upon binding the N-terminal domain of PEX14.
  6. PEX14 is a multi-tasking protein that not only facilitates peroxisomal protein import but is also required for peroxisome motility by serving as membrane anchor for microtubules.
    Title: PEX14 is required for microtubule-based peroxisome motility in human cells.
  7. Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
    Title: Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
  8. Observational study of gene-disease association. (HuGE Navigator)
    Title: Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.
  9. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
    Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
  10. analysis of the human Pex5.Pex14.PTS1 protein complex structure obtained by small angle X-ray scattering
    Title: Solution structure of human Pex5.Pex14.PTS1 protein complexes obtained by small angle X-ray scattering.
Submit: New GeneRIF Correction See all GeneRIFs (15)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description Tests
Peroxisome biogenesis disorder 13A
MedGen: C3554004 OMIM: 614887 GeneReviews: Not available
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NHGRI GWAS Catalog

Description
A genome-wide association meta-analysis of self-reported allergy identifies shared and allergy-specific susceptibility loci.
NHGRI GWA Catalog
A meta-analysis of 87,040 individuals identifies 23 new susceptibility loci for prostate cancer.
NHGRI GWA Catalog
Genome-wide association identifies ATOH7 as a major gene determining human optic disc size.
NHGRI GWA Catalog
Genome-wide association studies identify four ER negative-specific breast cancer risk loci.
NHGRI GWA Catalog
Large-scale genotyping identifies 41 new loci associated with breast cancer risk.
NHGRI GWA Catalog

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

HIV-1 interactions

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Replication interactions

Interaction Pubs
Knockdown of peroxisomal biogenesis factor 14 (PEX14) by shRNA library screening inhibits HIV-1 replication in cultured Jurkat T-cells PubMed

Go to the HIV-1, Human Interaction Database

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • MGC12767

Gene Ontology Provided by GOA

Function Evidence Code Pubs
beta-tubulin binding IPI
Inferred from Physical Interaction
more info
 PubMed 
identical protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
microtubule binding IDA
Inferred from Direct Assay
more info
 PubMed 
protein N-terminus binding IPI
Inferred from Physical Interaction
more info
 PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
signaling receptor binding IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
signaling receptor binding IPI
Inferred from Physical Interaction
more info
 PubMed 
transcription corepressor activity IDA
Inferred from Direct Assay
more info
 PubMed 
Process Evidence Code Pubs
microtubule anchoring IDA
Inferred from Direct Assay
more info
 PubMed 
negative regulation of DNA-binding transcription factor activity IDA
Inferred from Direct Assay
more info
 PubMed 
negative regulation of protein binding IDA
Inferred from Direct Assay
more info
 PubMed 
negative regulation of transcription, DNA-templated IDA
Inferred from Direct Assay
more info
 PubMed 
NOT peroxisome organization IGI
Inferred from Genetic Interaction
more info
 PubMed 
peroxisome organization ISS
Inferred from Sequence or Structural Similarity
more info
  
peroxisome transport along microtubule IDA
Inferred from Direct Assay
more info
 PubMed 
protein import into peroxisome matrix IMP
Inferred from Mutant Phenotype
more info
 PubMed 
protein import into peroxisome matrix, docking IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
protein import into peroxisome matrix, substrate release IDA
Inferred from Direct Assay
more info
 PubMed 
protein import into peroxisome matrix, translocation IDA
Inferred from Direct Assay
more info
 PubMed 
protein targeting to peroxisome TAS
Traceable Author Statement
more info
  
protein ubiquitination TAS
Traceable Author Statement
more info
  
protein-containing complex assembly IDA
Inferred from Direct Assay
more info
 PubMed 
Component Evidence Code Pubs
fibrillar center IDA
Inferred from Direct Assay
more info
  
integral component of membrane ISS
Inferred from Sequence or Structural Similarity
more info
  
membrane HDA PubMed 
nucleus NAS
Non-traceable Author Statement
more info
 PubMed 
peroxisomal importomer complex IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
peroxisomal membrane HDA PubMed 
peroxisomal membrane IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
peroxisomal membrane IDA
Inferred from Direct Assay
more info
 PubMed 
peroxisomal membrane ISS
Inferred from Sequence or Structural Similarity
more info
  
peroxisomal membrane TAS
Traceable Author Statement
more info
  
peroxisome IDA
Inferred from Direct Assay
more info
 PubMed 
protein-containing complex IDA
Inferred from Direct Assay
more info
 PubMed 
protein-containing complex ISS
Inferred from Sequence or Structural Similarity
more info
  

General protein information

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Preferred Names
peroxisomal membrane protein PEX14
Names
NF-E2 associated polypeptide 2
PTS1 receptor docking protein
peroxin-14
peroxisomal membrane anchor protein PEX14
peroxisomal membrane anchor protein Pex14p

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_008340.2 RefSeqGene

    Range
    5005..160813
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_004565.3 → NP_004556.1  peroxisomal membrane protein PEX14

    See identical proteins and their annotated locations for NP_004556.1

    Status: REVIEWED

    Source sequence(s)
    BC006327, DA494578
    Consensus CDS
    CCDS30582.1
    UniProtKB/Swiss-Prot
    O75381
    Related
    ENSP00000349016.4, ENST00000356607.9
    Conserved Domains (1) summary
    pfam04695
    Location:25 → 135
    Pex14_N; Peroxisomal membrane anchor protein (Pex14p) conserved region

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p13 Primary Assembly

    Range
    10474946..10630758
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011541580.1 → XP_011539882.1  peroxisomal membrane protein PEX14 isoform X4

    See identical proteins and their annotated locations for XP_011539882.1

    UniProtKB/Swiss-Prot
    O75381
    Conserved Domains (1) summary
    pfam04695
    Location:25 → 92
    Pex14_N; Peroxisomal membrane anchor protein (Pex14p) conserved region

  2. XM_011541579.3 → XP_011539881.1  peroxisomal membrane protein PEX14 isoform X3

    Conserved Domains (1) summary
    pfam04695
    Location:39 → 106
    Pex14_N; Peroxisomal membrane anchor protein (Pex14p) conserved region

  3. XM_011541577.2 → XP_011539879.1  peroxisomal membrane protein PEX14 isoform X1

    Conserved Domains (1) summary
    pfam04695
    Location:39 → 149
    Pex14_N; Peroxisomal membrane anchor protein (Pex14p) conserved region

  4. XM_024447651.1 → XP_024303419.1  peroxisomal membrane protein PEX14 isoform X5

    Conserved Domains (2) summary
    TIGR04211
    Location:78 → 156
    SH3_and_anchor; SH3 domain protein
    pfam04695
    Location:4 → 71
    Pex14_N; Peroxisomal membrane anchor protein (Pex14p) conserved region

  5. XM_011541578.2 → XP_011539880.1  peroxisomal membrane protein PEX14 isoform X2

    See identical proteins and their annotated locations for XP_011539880.1

    Conserved Domains (1) summary
    pfam04695
    Location:9 → 116
    Pex14_N; Peroxisomal membrane anchor protein (Pex14p) conserved region

  6. XM_005263470.5 → XP_005263527.1  peroxisomal membrane protein PEX14 isoform X5

    See identical proteins and their annotated locations for XP_005263527.1

    Conserved Domains (2) summary
    TIGR04211
    Location:78 → 156
    SH3_and_anchor; SH3 domain protein
    pfam04695
    Location:4 → 71
    Pex14_N; Peroxisomal membrane anchor protein (Pex14p) conserved region
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
O75381.1 GenPept UniProtKB/Swiss-Prot:O75381

Gene LinkOut

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