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Aliases for PEX14 Gene

Aliases for PEX14 Gene

  • Peroxisomal Biogenesis Factor 14 2 3
  • Peroxisomal Membrane Anchor Protein PEX14 3 4
  • PTS1 Receptor-Docking Protein 3 4
  • Peroxin-14 3 4
  • PBD13A 3 6
  • Peroxisomal Membrane Anchor Protein Pex14p 3
  • Peroxisomal Membrane Protein PEX14 3
  • NF-E2 Associated Polypeptide 2 3
  • PTS1 Receptor Docking Protein 3
  • DJ734G22.2 3
  • Pex14p 3
  • NAPP2 3

External Ids for PEX14 Gene

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

Genomic Location for PEX14 Gene

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

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for PEX14 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PEX14 Gene

Regulatory Elements 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

  • Modification sites at PhosphoSitePlus
  • Ubiquitination at Lys34, Lys220, and Lys363

Other Protein References for PEX14 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for PEX14 Gene

Domains for PEX14 Gene

Protein Domains for PEX14 Gene

UniProtKB/Swiss-Prot:

PEX14_HUMAN
Family:
  • Belongs to the peroxin-14 family.:
    • O75381
genes like me logo Genes that share domains with PEX14: view

No data available for Gene Families for PEX14 Gene

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.

Gene Ontology (GO) - Molecular Function for PEX14 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003714 transcription corepressor activity IDA 11863372
GO:0005102 receptor binding IPI 10022913
GO:0005515 protein binding IPI 10562279
GO:0008017 microtubule binding IDA 21525035
GO:0047485 protein N-terminus binding IPI 11863372
genes like me logo Genes that share ontologies with PEX14: view

Phenotypes for PEX14 Gene

MGI mutant phenotypes for PEX14:
inferred from 1 alleles
GenomeRNAi human phenotypes for PEX14:
genes like me logo Genes that share phenotypes with PEX14: view

miRNA for PEX14 Gene

miRTarBase miRNAs that target PEX14

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targeting 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 2

Gene Ontology (GO) - Cellular Components for PEX14 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005622 intracellular IDA 21976670
GO:0005634 nucleus NAS 11863372
GO:0005730 nucleolus IDA --
GO:0005777 peroxisome IDA 16449325
GO:0005778 peroxisomal membrane ISS --
genes like me logo Genes that share ontologies with PEX14: view

Pathways 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:0006461 protein complex assembly IDA 21525035
GO:0007031 peroxisome organization ISS --
GO:0016558 protein import into peroxisome matrix IMP 15146459
GO:0016560 protein import into peroxisome matrix, docking --
GO:0016561 protein import into peroxisome matrix, translocation IDA 21525035
genes like me logo Genes that share ontologies with PEX14: view

Compounds for PEX14 Gene

(1) Novoseek inferred chemical compound relationships for PEX14 Gene

Compound -log(P) Hits PubMed IDs
glucose 0 1
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

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression 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 expressions with PEX14: view

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 36
  • 99.56 (n)
  • 100 (a)
PEX14 37
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia PEX14 36
  • 91.67 (n)
  • 96.01 (a)
PEX14 37
  • 91 (a)
OneToOne
dog
(Canis familiaris)
Mammalia APITD1 37
  • 94 (a)
OneToOne
PEX14 36
  • 90.15 (n)
  • 93.92 (a)
mouse
(Mus musculus)
Mammalia Pex14 36
  • 88.21 (n)
  • 91.22 (a)
Pex14 16
Pex14 37
  • 93 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia PEX14 37
  • 68 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia PEX14 37
  • 70 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Pex14 36
  • 88.92 (n)
  • 92.02 (a)
chicken
(Gallus gallus)
Aves PEX14 36
  • 77.69 (n)
  • 80.53 (a)
PEX14 37
  • 80 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia PEX14 37
  • 80 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.5437 36
tropical clawed frog
(Silurana tropicalis)
Amphibia pex14 36
  • 69.09 (n)
  • 72.07 (a)
zebrafish
(Danio rerio)
Actinopterygii pex14 36
  • 68.72 (n)
  • 65.51 (a)
pex14 37
  • 56 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP006232 36
  • 46.77 (n)
  • 34.18 (a)
fruit fly
(Drosophila melanogaster)
Insecta Pex14 36
  • 46.02 (n)
  • 32.2 (a)
Pex14 37
  • 28 (a)
OneToOne
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes PEX14 37
  • 23 (a)
OneToOne
PEX14 39
sea squirt
(Ciona savignyi)
Ascidiacea -- 37
  • 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 MAF
rs12375 -- 10,536,284(+) GCATT(C/T)CTAAA reference, synonymous-codon, utr-variant-5-prime
rs176164 -- 10,628,943(-) CCCTT(C/G)TGCTC intron-variant
rs185864 -- 10,627,669(-) CAAAC(C/G)AGGAA intron-variant
rs188204 -- 10,605,480(-) TTCTA(G/T)AAAGC intron-variant
rs190775 -- 10,623,626(-) AGAAG(A/C)CACCT 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

Relevant External Links for PEX14 Gene

HapMap Linkage Disequilibrium report
PEX14
Human Gene Mutation Database (HGMD)
PEX14
Locus Specific Mutation Databases (LSDB)
PEX14

Disorders for PEX14 Gene

(1) OMIM Diseases for PEX14 Gene (601791)

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). 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.

(2) University of Copenhagen DISEASES for PEX14 Gene

(1) Novoseek inferred disease relationships for PEX14 Gene

Disease -log(P) Hits PubMed IDs
tumors 0 1

Relevant External Links for PEX14

GeneTests
PEX14
GeneReviews
PEX14
Genetic Association Database (GAD)
PEX14
Human Genome Epidemiology (HuGE) Navigator
PEX14
genes like me logo Genes that share disorders with PEX14: view

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
  2. 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 4 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 4 23
  4. Identification of a novel PEX14 mutation in Zellweger syndrome. (PMID: 18285423) Huybrechts S.J. … Cassiman D. (J. Med. Genet. 2008) 3 23
  5. PEX19 binds multiple peroxisomal membrane proteins, is predominantly cytoplasmic, and is required for peroxisome membrane synthesis. (PMID: 10704444) Sacksteder K.A. … Gould S.J. (J. Cell Biol. 2000) 3 4

Products for PEX14 Gene

Sources for PEX14 Gene

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