Format

Send to:

Choose Destination
    • Showing Current items.

    PEX13 peroxisomal biogenesis factor 13 [ Homo sapiens (human) ]

    Gene ID: 5194, updated on 8-Jul-2021

    Summary

    Official Symbol
    PEX13provided by HGNC
    Official Full Name
    peroxisomal biogenesis factor 13provided by HGNC
    Primary source
    HGNC:HGNC:8855
    See related
    Ensembl:ENSG00000162928 MIM:601789
    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
    ZWS; NALD; PBD11A; PBD11B
    Summary
    This gene encodes a peroxisomal membrane protein that binds the type 1 peroxisomal targeting signal receptor via a SH3 domain located in the cytoplasm. Mutations and deficiencies in peroxisomal protein importing and peroxisome assembly lead to peroxisomal biogenesis disorders, an example of which is Zellweger syndrome. [provided by RefSeq, Oct 2008]
    Expression
    Ubiquitous expression in thyroid (RPKM 8.0), liver (RPKM 7.8) and 25 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See PEX13 in Genome Data Viewer
    Location:
    2p15
    Exon count:
    4
    Annotation release Status Assembly Chr Location
    109.20210514 current GRCh38.p13 (GCF_000001405.39) 2 NC_000002.12 (61017720..61051990)
    105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (61244855..61279125)

    Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene ribosomal protein S12 pseudogene 3 Neighboring gene pseudouridine synthase 10 Neighboring gene RNA, 5S ribosomal pseudogene 95 Neighboring gene SANT and BTB domain regulator of CSR Neighboring gene uncharacterized LOC105374759 Neighboring gene uncharacterized LOC339803

    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 scan of Ashkenazi Jewish Crohn's disease suggests novel susceptibility loci.
    GeneReviews: Not available
    Peroxisome biogenesis disorder 11A
    MedGen: C3554000 OMIM: 614883 GeneReviews: Not available
    Compare labs
    Peroxisome biogenesis disorder 11B
    MedGen: C3554001 OMIM: 614885 GeneReviews: Not available
    Compare labs

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in cerebral cortex cell migration ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in fatty acid alpha-oxidation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in locomotory behavior ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in microtubule-based peroxisome localization ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in neuron migration ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in protein import into peroxisome matrix, docking IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in protein import into peroxisome matrix, docking IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in protein import into peroxisome matrix, docking TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in suckling behavior ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    Component Evidence Code Pubs
    located_in cytosol TAS
    Traceable Author Statement
    more info
     
    located_in integral component of peroxisomal membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in membrane HDA 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 TAS
    Traceable Author Statement
    more info
     
    located_in peroxisome IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    Preferred Names
    peroxisome biogenesis factor 13
    Names
    peroxin-13
    peroxisomal membrane protein PEX13

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_008665.1 RefSeqGene

      Range
      5044..39314
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_002618.4NP_002609.1  peroxisome biogenesis factor 13

      See identical proteins and their annotated locations for NP_002609.1

      Status: REVIEWED

      Source sequence(s)
      AB022192, AC010733, CN288682, DB102467
      Consensus CDS
      CCDS1866.1
      UniProtKB/Swiss-Prot
      Q92968
      Related
      ENSP00000295030.4, ENST00000295030.6
      Conserved Domains (2) summary
      cd11864
      Location:276333
      SH3_PEX13_eumet; Src Homology 3 domain of eumetazoan Peroxisomal biogenesis factor 13
      pfam04088
      Location:120254
      Peroxin-13_N; Peroxin 13, N-terminal 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_000002.12 Reference GRCh38.p13 Primary Assembly

      Range
      61017720..61051990
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Support Center