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

    Gene ID: 5195, updated on 19-Jul-2016
    Official Symbol
    PEX14provided by HGNC
    Official Full Name
    peroxisomal biogenesis factor 14provided by HGNC
    Primary source
    HGNC:HGNC:8856
    See related
    Ensembl:ENSG00000142655 HPRD:03477; MIM:601791; Vega:OTTHUMG00000001908
    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]
    Orthologs
    Location:
    1p36.22
    Exon count:
    13
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 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 APITD1-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 uncharacterized LOC105376733

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Associated conditions

    Description Tests
    Peroxisome biogenesis disorder 13A
    MedGen: C3554004 OMIM: 614887 GeneReviews: Not available
    Compare labs

    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

    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

    • Peroxisome, organism-specific biosystem (from KEGG)
      Peroxisome, organism-specific biosystemPeroxisomes are essential organelles that play a key role in redox signalling and lipid homeostasis. They contribute to many crucial metabolic processes such as fatty acid oxidation, biosynthesis of ...
    • Peroxisome, conserved biosystem (from KEGG)
      Peroxisome, conserved biosystemPeroxisomes are essential organelles that play a key role in redox signalling and lipid homeostasis. They contribute to many crucial metabolic processes such as fatty acid oxidation, biosynthesis of ...
    Products Interactant Other Gene Complex Source Pubs Description

    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 
    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 
    receptor binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    transcription corepressor activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Component Evidence Code Pubs
    integral component of membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    intracellular IDA
    Inferred from Direct Assay
    more info
    PubMed 
    intracellular membrane-bounded organelle IDA
    Inferred from Direct Assay
    more info
     
    membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    nucleolus IDA
    Inferred from Direct Assay
    more info
     
    nucleus NAS
    Non-traceable Author Statement
    more info
    PubMed 
    peroxisomal membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    peroxisomal membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    peroxisome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    protein complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    protein complex ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    Preferred Names
    peroxisomal membrane protein PEX14
    Names
    NF-E2 associated polypeptide 2
    PTS1 receptor docking protein
    PTS1 receptor-docking protein
    peroxin-14
    peroxisomal membrane anchor protein PEX14
    peroxisomal membrane anchor protein Pex14p

    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_008340.1 RefSeqGene

      Range
      5001..160813
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_004565.2NP_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, OTTHUMP00000001902, ENST00000356607, OTTHUMT00000005414
      Conserved Domains (1) summary
      pfam04695
      Location:25135
      Pex14_N; Peroxisomal membrane anchor protein (Pex14p) conserved region

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...

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

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000001.11 Reference GRCh38.p7 Primary Assembly

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

    mRNA and Protein(s)

    1. XM_011541580.1XP_011539882.1  

      See identical proteins and their annotated locations for XP_011539882.1

      UniProtKB/Swiss-Prot
      O75381
      Conserved Domains (1) summary
      pfam04695
      Location:2457
      Pex14_N; Peroxisomal membrane anchor protein (Pex14p) conserved region
    2. XM_011541579.2XP_011539881.1  

      Conserved Domains (1) summary
      pfam04695
      Location:3871
      Pex14_N; Peroxisomal membrane anchor protein (Pex14p) conserved region
    3. XM_011541577.2XP_011539879.1  

      Conserved Domains (1) summary
      pfam04695
      Location:38115
      Pex14_N; Peroxisomal membrane anchor protein (Pex14p) conserved region
    4. XM_011541578.2XP_011539880.1  

      See identical proteins and their annotated locations for XP_011539880.1

      Conserved Domains (1) summary
      pfam04695
      Location:982
      Pex14_N; Peroxisomal membrane anchor protein (Pex14p) conserved region
    5. XM_005263470.4XP_005263527.1  

      See identical proteins and their annotated locations for XP_005263527.1

      Conserved Domains (1) summary
      TIGR04211
      Location:78156
      SH3_and_anchor; SH3 domain protein

    Alternate CHM1_1.1

    Genomic

    1. NC_018912.2 Alternate CHM1_1.1

      Range
      10522760..10678540
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)