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

    Gene ID: 5195, updated on 8-Jul-2021

    Summary

    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
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    Genomic context

    See PEX14 in Genome Data Viewer
    Location:
    1p36.22
    Exon count:
    14
    Annotation release Status Assembly Chr Location
    109.20210514 current GRCh38.p13 (GCF_000001405.39) 1 NC_000001.11 (10474946..10630758)
    105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (10535007..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

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    A genome-wide association meta-analysis of self-reported allergy identifies shared and allergy-specific susceptibility loci.
    GeneReviews: Not available
    A meta-analysis of 87,040 individuals identifies 23 new susceptibility loci for prostate cancer.
    GeneReviews: Not available
    Genome-wide association identifies ATOH7 as a major gene determining human optic disc size.
    GeneReviews: Not available
    Genome-wide association studies identify four ER negative-specific breast cancer risk loci.
    GeneReviews: Not available
    Large-scale genotyping identifies 41 new loci associated with breast cancer risk.
    GeneReviews: Not available
    Peroxisome biogenesis disorder 13A
    MedGen: C3554004 OMIM: 614887 GeneReviews: Not available
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    HIV-1 interactions

    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

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Clone Names

    • MGC12767

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables beta-tubulin binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables identical protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables microtubule binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables protein N-terminus binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables signaling receptor binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    enables signaling receptor binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables transcription corepressor activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Component Evidence Code Pubs
    located_in cytosol TAS
    Traceable Author Statement
    more info
     
    located_in fibrillar center IDA
    Inferred from Direct Assay
    more info
     
    located_in integral component of membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in membrane HDA PubMed 
    located_in nucleus NAS
    Non-traceable Author Statement
    more info
    PubMed 
    part_of peroxisomal importomer complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    located_in peroxisomal membrane HDA PubMed 
    is_active_in peroxisomal membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    located_in peroxisomal membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in peroxisomal membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in peroxisomal membrane TAS
    Traceable Author Statement
    more info
     
    located_in peroxisome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    part_of protein-containing complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    part_of protein-containing complex ISS
    Inferred from Sequence or Structural Similarity
    more info
     

    General protein information

    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_004565.3NP_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:25135
      Pex14_N; Peroxisomal membrane anchor protein (Pex14p) conserved region

    RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

    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_011541580.1XP_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:2592
      Pex14_N; Peroxisomal membrane anchor protein (Pex14p) conserved region
    2. XM_011541579.3XP_011539881.1  peroxisomal membrane protein PEX14 isoform X3

      Conserved Domains (1) summary
      pfam04695
      Location:39106
      Pex14_N; Peroxisomal membrane anchor protein (Pex14p) conserved region
    3. XM_011541577.2XP_011539879.1  peroxisomal membrane protein PEX14 isoform X1

      Conserved Domains (1) summary
      pfam04695
      Location:39149
      Pex14_N; Peroxisomal membrane anchor protein (Pex14p) conserved region
    4. XM_024447651.1XP_024303419.1  peroxisomal membrane protein PEX14 isoform X5

      Conserved Domains (2) summary
      TIGR04211
      Location:78156
      SH3_and_anchor; SH3 domain protein
      pfam04695
      Location:471
      Pex14_N; Peroxisomal membrane anchor protein (Pex14p) conserved region
    5. XM_011541578.2XP_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:9116
      Pex14_N; Peroxisomal membrane anchor protein (Pex14p) conserved region
    6. XM_005263470.5XP_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:78156
      SH3_and_anchor; SH3 domain protein
      pfam04695
      Location:471
      Pex14_N; Peroxisomal membrane anchor protein (Pex14p) conserved region
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