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Aliases for PEX14 Gene

Aliases for PEX14 Gene

  • Peroxisomal Biogenesis Factor 14 2 3 5
  • Peroxisomal Membrane Anchor Protein PEX14 3 4
  • PTS1 Receptor-Docking Protein 3 4
  • Peroxin-14 3 4
  • Peroxisomal Membrane Anchor Protein Pex14p 3
  • NF-E2 Associated Polypeptide 2 3
  • PTS1 Receptor Docking Protein 3
  • DJ734G22.2 3
  • PBD13A 3
  • Pex14p 3
  • NAPP2 3

External Ids for PEX14 Gene

Previous GeneCards Identifiers for PEX14 Gene

  • GC01P010496
  • GC01P010378
  • GC01P010144
  • GC01P010244
  • GC01P010469
  • GC01P010532
  • GC01P009688

Summaries for PEX14 Gene

Entrez Gene Summary for PEX14 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]

GeneCards Summary for PEX14 Gene

PEX14 (Peroxisomal Biogenesis Factor 14) is a Protein Coding gene. Diseases associated with PEX14 include peroxisome biogenesis disorder 13a and peroxisome biogenesis disorder 1b. Among its related pathways are Peroxisome. GO annotations related to this gene include receptor binding and microtubule binding.

UniProtKB/Swiss-Prot for PEX14 Gene

  • Peroxisome membrane protein that is an essential component of the peroxisomal import machinery. Functions as a docking factor for the predominantly cytoplasmic PTS1 receptor (PEX5). Plays a key role for peroxisome movement through a direct interaction with tubulin.

Gene Wiki entry for PEX14 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PEX14 Gene

Genomics for PEX14 Gene

Regulatory Elements for PEX14 Gene

Promoters for PEX14 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around PEX14 on UCSC Golden Path with GeneCards custom track

Genomic Location for PEX14 Gene

Chromosome:
1
Start:
10,472,288 bp from pter
End:
10,630,758 bp from pter
Size:
158,471 bases
Orientation:
Plus strand

Genomic View for PEX14 Gene

Genes around PEX14 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PEX14 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PEX14 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PEX14 Gene

Proteins for PEX14 Gene

  • Protein details for PEX14 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O75381-PEX14_HUMAN
    Recommended name:
    Peroxisomal membrane protein PEX14
    Protein Accession:
    O75381
    Secondary Accessions:
    • B2R7N1
    • B3KML6
    • B7Z1N2
    • Q8WX51

    Protein attributes for PEX14 Gene

    Size:
    377 amino acids
    Molecular mass:
    41237 Da
    Quaternary structure:
    • Interacts with PEX5, PEX13 and PEX19. Interacts with tubulin.

    Three dimensional structures from OCA and Proteopedia for PEX14 Gene

    Alternative splice isoforms for PEX14 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for PEX14 Gene

Proteomics data for PEX14 Gene at MOPED

Post-translational modifications for PEX14 Gene

  • Ubiquitination at Lys 34, Lys 220, and Lys 363
  • Modification sites at PhosphoSitePlus

Other Protein References for PEX14 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

No data available for DME Specific Peptides for PEX14 Gene

Domains & Families for PEX14 Gene

Gene Families for PEX14 Gene

Protein Domains for PEX14 Gene

Suggested Antigen Peptide Sequences for PEX14 Gene

Graphical View of Domain Structure for InterPro Entry

O75381

UniProtKB/Swiss-Prot:

PEX14_HUMAN :
  • Belongs to the peroxin-14 family.
Family:
  • Belongs to the peroxin-14 family.
genes like me logo Genes that share domains with PEX14: view

Function for PEX14 Gene

Molecular function for PEX14 Gene

UniProtKB/Swiss-Prot Function:
Peroxisome membrane protein that is an essential component of the peroxisomal import machinery. Functions as a docking factor for the predominantly cytoplasmic PTS1 receptor (PEX5). Plays a key role for peroxisome movement through a direct interaction with tubulin.
genes like me logo Genes that share phenotypes with PEX14: view

Human Phenotype Ontology for PEX14 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Animal Models , Transcription Factor Targets and HOMER Transcription for PEX14 Gene

Localization for PEX14 Gene

Subcellular locations from UniProtKB/Swiss-Prot for PEX14 Gene

Peroxisome membrane; Peripheral membrane protein; Cytoplasmic side.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for PEX14 Gene COMPARTMENTS Subcellular localization image for PEX14 gene
Compartment Confidence
nucleus 5
peroxisome 5
cytosol 3
endoplasmic reticulum 1

Gene Ontology (GO) - Cellular Components for PEX14 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005622 intracellular IDA 21976670
GO:0005777 peroxisome IEA,IDA 16449325
GO:0005778 peroxisomal membrane IEA,ISS --
GO:0016021 integral component of membrane IEA,ISS --
genes like me logo Genes that share ontologies with PEX14: view

Pathways & Interactions for PEX14 Gene

SuperPathways for PEX14 Gene

Superpath Contained pathways
1 Peroxisome
genes like me logo Genes that share pathways with PEX14: view

Pathways by source for PEX14 Gene

1 KEGG pathway for PEX14 Gene

Gene Ontology (GO) - Biological Process for PEX14 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016560 protein import into peroxisome matrix, docking IEA --
GO:0043433 negative regulation of sequence-specific DNA binding transcription factor activity IDA 11863372
GO:0045892 negative regulation of transcription, DNA-templated IDA 11863372
genes like me logo Genes that share ontologies with PEX14: view

No data available for SIGNOR curated interactions for PEX14 Gene

Drugs & Compounds for PEX14 Gene

(1) Additional Compounds for PEX14 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with PEX14: view

Transcripts for PEX14 Gene

Unigene Clusters for PEX14 Gene

Peroxisomal biogenesis factor 14:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for PEX14 Gene

ExUns: 1a · 1b · 1c ^ 2 ^ 3a · 3b ^ 4a · 4b ^ 5 ^ 6 ^ 7a · 7b ^ 8 ^ 9 ^ 10 ^ 11 ^ 12a · 12b · 12c ^ 13 ^ 14 ^ 15a · 15b
SP1: - - - - - - - - - -
SP2: - - - - - - - - - -
SP3: - - -
SP4: - - - - - - -
SP5: - - - - - - - - - -
SP6: -
SP7: - - - - - - - -
SP8: -
SP9: -

Relevant External Links for PEX14 Gene

GeneLoc Exon Structure for
PEX14
ECgene alternative splicing isoforms for
PEX14

Expression for PEX14 Gene

mRNA expression in normal human tissues for PEX14 Gene

Protein differential expression in normal tissues from HIPED for PEX14 Gene

This gene is overexpressed in Breast (20.1), Testis (9.9), and Adrenal (9.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for PEX14 Gene



SOURCE GeneReport for Unigene cluster for PEX14 Gene Hs.149983

genes like me logo Genes that share expression patterns with PEX14: view

Protein tissue co-expression partners for PEX14 Gene

Primer Products

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for PEX14 Gene

Orthologs for PEX14 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for PEX14 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia PEX14 35
  • 99.56 (n)
  • 100 (a)
PEX14 36
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia PEX14 36
  • 91 (a)
OneToOne
PEX14 35
  • 91.67 (n)
  • 96.01 (a)
dog
(Canis familiaris)
Mammalia PEX14 35
  • 90.15 (n)
  • 93.92 (a)
APITD1 36
  • 94 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Pex14 16
Pex14 36
  • 93 (a)
OneToOne
Pex14 35
  • 88.21 (n)
  • 91.22 (a)
oppossum
(Monodelphis domestica)
Mammalia PEX14 36
  • 68 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia PEX14 36
  • 70 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Pex14 35
  • 88.92 (n)
  • 92.02 (a)
chicken
(Gallus gallus)
Aves PEX14 36
  • 80 (a)
OneToOne
PEX14 35
  • 77.69 (n)
  • 80.53 (a)
lizard
(Anolis carolinensis)
Reptilia PEX14 36
  • 80 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.5437 35
tropical clawed frog
(Silurana tropicalis)
Amphibia pex14 35
  • 69.09 (n)
  • 72.07 (a)
zebrafish
(Danio rerio)
Actinopterygii pex14 35
  • 68.72 (n)
  • 65.51 (a)
pex14 36
  • 56 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP006232 35
  • 46.77 (n)
  • 34.18 (a)
fruit fly
(Drosophila melanogaster)
Insecta Pex14 35
  • 46.02 (n)
  • 32.2 (a)
Pex14 36
  • 28 (a)
OneToOne
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes PEX14 36
  • 23 (a)
OneToOne
PEX14 38
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 32 (a)
OneToOne
Species with no ortholog for PEX14:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for PEX14 Gene

ENSEMBL:
Gene Tree for PEX14 (if available)
TreeFam:
Gene Tree for PEX14 (if available)

Paralogs for PEX14 Gene

No data available for Paralogs for PEX14 Gene

Variants for PEX14 Gene

Sequence variations from dbSNP and Humsavar for PEX14 Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type
rs12061667 - 10,618,382(+) TCATG(G/T)CAGGC reference, missense
rs11539793 - 10,623,082(+) TGGAG(G/T)CCGGT reference, missense
rs12070353 - 10,629,812(+) GAAGA(A/G)GGAGG reference, missense
rs185864 -- 10,627,669(-) CAAAC(C/G)AGGAA intron-variant
rs284265 -- 10,598,164(-) GTTCC(A/G)GGAAT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for PEX14 Gene

Variant ID Type Subtype PubMed ID
dgv17e1 CNV Complex 17122850
essv3548 CNV CNV 17122850
esv2743674 CNV Deletion 23290073
esv2662921 CNV Deletion 23128226
esv2421360 CNV Deletion 20811451
nsv2521 CNV Loss 18451855
nsv8435 CNV Gain 18304495
esv2665377 CNV Deletion 23128226
esv2743685 CNV Deletion 23290073
nsv517464 CNV Loss 19592680
nsv818777 CNV Loss 17921354
esv275132 CNV Loss 21479260
dgv4n27 CNV Loss 19166990
esv29966 CNV Loss 17803354
nsv828030 CNV Gain 20364138
dgv133n71 CNV Loss 21882294
dgv134n71 CNV Loss 21882294
dgv135n71 CNV Loss 21882294

Variation tolerance for PEX14 Gene

Residual Variation Intolerance Score: 70.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.22; 62.16% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for PEX14 Gene

HapMap Linkage Disequilibrium report
PEX14
Human Gene Mutation Database (HGMD)
PEX14

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PEX14 Gene

Disorders for PEX14 Gene

MalaCards: The human disease database

(13) MalaCards diseases for PEX14 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
peroxisome biogenesis disorder 13a
  • pbd13a
peroxisome biogenesis disorder 1b
  • infantile refsum disease
neonatal adrenoleukodystrophy
  • adrenoleukodystrophy autosomal neonatal form
acid-labile subunit, deficiency of
  • acid-labile subunit deficiency
zellweger spectrum
  • pbd, zss
- elite association - COSMIC cancer census association via MalaCards
Search PEX14 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

PEX14_HUMAN
  • Peroxisome biogenesis disorder complementation group K (PBD-CGK) [MIM:614887]: A peroxisomal disorder arising from a failure of protein import into the peroxisomal membrane or matrix. The peroxisome biogenesis disorders (PBD group) are genetically heterogeneous with at least 14 distinct genetic groups as concluded from complementation studies. Include disorders are: Zellweger syndrome (ZWS), neonatal adrenoleukodystrophy (NALD), infantile Refsum disease (IRD), and classical rhizomelic chondrodysplasia punctata (RCDP). ZWS, NALD and IRD are distinct from RCDP and constitute a clinical continuum of overlapping phenotypes known as the Zellweger spectrum (PBD-ZSS). {ECO:0000269 PubMed:15146459}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Peroxisome biogenesis disorder 13A (PBD13A) [MIM:614887]: A fatal peroxisome biogenesis disorder belonging to the Zellweger disease spectrum and clinically characterized by severe neurologic dysfunction with profound psychomotor retardation, severe hypotonia and neonatal seizures, craniofacial abnormalities, liver dysfunction, and biochemically by the absence of peroxisomes. Additional features include cardiovascular and skeletal defects, renal cysts, ocular abnormalities, and hearing impairment. Most severely affected individuals with the classic form of the disease (classic Zellweger syndrome) die within the first year of life. {ECO:0000269 PubMed:15146459}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for PEX14

Genetic Association Database (GAD)
PEX14
Human Genome Epidemiology (HuGE) Navigator
PEX14
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
PEX14
genes like me logo Genes that share disorders with PEX14: view

No data available for Genatlas for PEX14 Gene

Publications for PEX14 Gene

  1. Identification of a human PTS1 receptor docking protein directly required for peroxisomal protein import. (PMID: 9653144) Fransen M. … Subramani S. (Proc. Natl. Acad. Sci. U.S.A. 1998) 2 3 4 23 67
  2. Identification of a novel PEX14 mutation in Zellweger syndrome. (PMID: 18285423) Huybrechts S.J. … Cassiman D. (J. Med. Genet. 2008) 3 23
  3. Identification of a new complementation group of the peroxisome biogenesis disorders and PEX14 as the mutated gene. (PMID: 15146459) Shimozawa N. … Kondo N. (Hum. Mutat. 2004) 3 23
  4. The peroxin Pex14p. cDNA cloning by functional complementation on a Chinese hamster ovary cell mutant, characterization, and functional analysis. (PMID: 10212238) Shimizu N. … Fujiki Y. (J. Biol. Chem. 1999) 3 23
  5. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3

Products for PEX14 Gene

Sources for PEX14 Gene

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