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

    Gene ID: 5194, updated on 14-May-2013
    Official Symbol
    PEX13provided by HGNC
    Official Full Name
    peroxisomal biogenesis factor 13provided by HGNC
    Primary source
    HGNC:8855
    See related
    HPRD:03475; 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]
    Location :
    2p16.1
    Sequence :
    Chromosome: 2; NC_000002.11 (61244812..61279125)
    See PEX13 in Epigenomics, MapViewer

    Chromosome 2 - NC_000002.11Genomic Context describing neighboring genes Neighboring gene ribosomal protein S12 pseudogene 3 Neighboring gene non-POU domain containing, octamer-binding pseudogene 2 Neighboring gene pseudouridylate synthase 10 Neighboring gene KIAA1841 Neighboring gene uncharacterized LOC339803

    Go to nucleotideGraphics FASTA GenBank

    Go to reference sequence details

    Related articles in PubMed

    1. A genome-wide scan of Ashkenazi Jewish Crohn's disease suggests novel susceptibility loci. Kenny EE, et al. PLoS Genet, 2012. PMID 22412388.
    2. Two proteases, trypsin domain-containing 1 (Tysnd1) and peroxisomal lon protease (PsLon), cooperatively regulate fatty acid β-oxidation in peroxisomal matrix. Okumoto K, et al. J Biol Chem, 2011 Dec 30. PMID 22002062.
    3. Systematic and quantitative assessment of the ubiquitin-modified proteome. Kim W, et al. Mol Cell, 2011 Oct 21. PMID 21906983.
    4. PEX14 is required for microtubule-based peroxisome motility in human cells. Bharti P, et al. J Cell Sci, 2011 May 15. PMID 21525035.
    5. The peroxisomal receptor Pex19p forms a helical mPTS recognition domain. Schueller N, et al. EMBO J, 2010 Aug 4. PMID 20531392.

    See all (31) citations in PubMed

    See citations in PubMed for homologs of this gene provided by HomoloGene

    GeneRIFs: Gene References Into Functions What's a GeneRIF?

    1. Zellweger syndrome caused by PEX13 deficiency: report of two novel mutations.
      Title: Zellweger syndrome caused by PEX13 deficiency: report of two novel mutations.
    2. Pex13p has a role in determining the peroxisomal localization of Pex14p
      Title: Potential role for Pex19p in assembly of PTS-receptor docking complexes.
    3. analysis of PEX13 substitution of Ile326 by threonine in a patient with peroxisomal biogenesis disorder [case report]
      Title: Molecular mechanism of a temperature-sensitive phenotype in peroxisomal biogenesis disorder.
    Submit: New GeneRIF Correction

    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Products Interactant Other Gene Complex Source Pubs Description
    NP_002609.1 NP_002609.1 PEX13    BIND  PubMed PEX13 interacts with itself to form a homodimer. 
    NP_002609.1 NP_004556.1 PEX14    BIND  PubMed PEX14 interacts with PEX13. 
    NP_002609.1 NP_002848.1 PEX19    BIND  PubMed PEX13 interacts with PEX19. 
    Q92968 Q92968 PEX13    HPRD  PubMed  
    Q92968 P40855 PEX19    HPRD  PubMed  
    Q92968 P50542 PEX5    HPRD  PubMed  
    BioGRID:111217 BioGRID:201336 Mbp    BioGRID  PubMed Protein-peptide 
    BioGRID:111217 BioGRID:111217 PEX13    BioGRID  PubMed Two-hybrid 
    BioGRID:111217 BioGRID:111218 PEX14    BioGRID  PubMed Co-purification; Reconstituted Complex; Two-hybrid 
    BioGRID:111217 BioGRID:111782 PEX19    BioGRID  PubMed Protein-peptide; Reconstituted Complex; Two-hybrid 
    BioGRID:111217 BioGRID:111788 PEX5    BioGRID  PubMed Affinity Capture-MS; Reconstituted Complex; Two-hybrid 
    BioGRID:111217 BioGRID:111214 PEX7    BioGRID  PubMed Reconstituted Complex 
    BioGRID:111217 BioGRID:113164 UBC    BioGRID  PubMed Affinity Capture-MS 
    • 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 ...

    Markers

    Genotypes

    Homology

    • Homologs of the PEX13 gene: The PEX13 gene is conserved in chimpanzee, Rhesus monkey, dog, cow, mouse, rat, chicken, zebrafish, fruit fly, mosquito, C.elegans, S.cerevisiae, K.lactis, E.gossypii, M.oryzae, and N.crassa.
    • Map Viewer (Mouse, Rat)

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    cerebral cortex cell migration ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    fatty acid alpha-oxidation ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    locomotory behavior ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    microtubule-based peroxisome localization ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    neuron migration ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    protein import into peroxisome matrix, docking IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    protein import into peroxisome matrix, docking TAS
    Traceable Author Statement
    more info
    		 PubMed 
    suckling behavior ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    Component Evidence Code Pubs
    integral to peroxisomal membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    peroxisomal membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    peroxisome IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Preferred Names
    peroxisome biogenesis factor 13
    Names
    peroxisome biogenesis factor 13
    peroxin-13
    peroxisomal membrane protein PEX13

    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
      5001..39314
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_002618.3 → NP_002609.1  peroxisome biogenesis factor 13

      Status: REVIEWED

      Source sequence(s)
      AB022192, AC010733, CN288682, DB102467
      Consensus CDS
      CCDS1866.1
      UniProtKB/Swiss-Prot
      Q92968
      Conserved Domains (2) summary
      pfam04088
      Location:111 – 255
      Blast Score: 391
      Peroxin-13_N; Peroxin 13, N-terminal region
      cd11864
      Location:276 – 333
      Blast Score: 293
      SH3_PEX13_eumet; Src Homology 3 domain of eumetazoan Peroxisomal biogenesis factor 13

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 104

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

    Reference GRCh37.p10 Primary Assembly

    Genomic

    1. NC_000002.11 Reference GRCh37.p10 Primary Assembly

      Range
      61244812..61279125
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate HuRef

    Genomic

    1. AC_000134.1 Alternate HuRef

      Range
      60985309..61019608
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate CHM1_1.0

    Genomic

    1. NC_018913.1 Alternate CHM1_1.0

      Range
      61110349..61144661
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    genomic ABBA01075341.1 (88788..99253) None
    genomic ABBA01075342.1 (182..23779) None
    genomic AC010733.8 (171189..205190) None
    genomic AC074249.5 None
    genomic AMYH01010379.1 (877504..911816) None
    genomic CH471053.2 EAX00017.1
      EAX00018.1
      EAX00019.1
      EAX00020.1
      EAX00021.1
    mRNA AB022192.1 BAA88907.1
    mRNA AF048755.1 AAC39844.1
    mRNA AK315244.1 BAG37668.1
    mRNA BC067090.1 AAH67090.1
    mRNA CN288682.1 None
    mRNA DB102467.1 None
    mRNA U71374.1 AAD05572.1
    other-genetic HQ448406.1 ADQ32886.1
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q92968.2 GenPept UniProtKB/Swiss-Prot:Q92968

    Additional Links

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

    Chemical Information
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      Supplemental Content

      Table of contents

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        Conserved Domain Database Links between Entrez Gene and Conserved Domain Database (CDD) are calculated from the domains annotated by the CDD group on Reference Sequence proteins.
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        Links between Gene and PubMed are the result of the following: 1. Manual curation within NCBI. Part of the process of generating a REVIEWED RefSeq is an analysis of the current literature. Papers that are seminal in defining the gene, its sequence, and its function are added to the record at that time. Alert users point out gaps or errors in papers associated with a Gene record. These messages are reviewed and implemented as required. 2. Integration of information from other public databases. Gene integrates gene-citation from resources external to NCBI such as model organism-specific databases, Gene Ontology (GO), groups curating interactions, and sequence databases. The assumption in using these source is that they report citations specific to a gene in a known species. Gene does not process citations from OMIM automatically, because many of citations in OMIM refer to studies of genes in species other than human.
      • PubMed (GeneRIF)
        GeneRIF -- Gene Reference Into Function Staff of the Index Section in the National Library of Medicine review the current literature. When they find articles focused on the structure and function of a gene, they write a brief summary of the impact of the paper and make the connection between the citation (PubMed) and Gene. An interface exists for interested users to submit such data as well. http://www.ncbi.nlm.nih.gov/projects/GeneRIF/GeneRIFhelp.html
      • PubMed (OMIM)
        Links are provided when Gene has a link to a record in OMIM, and OMIM explicitly cites these publications in PubMed.
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        Citations in PubMed identified from shared sequence and PMC links.
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        Link to Protein RefSeqs
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        Related UniSTS records

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