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    PEX7 peroxisomal biogenesis factor 7 [ Homo sapiens (human) ]

    Gene ID: 5191, updated on 18-Jul-2015
    Official Symbol
    PEX7provided by HGNC
    Official Full Name
    peroxisomal biogenesis factor 7provided by HGNC
    Primary source
    HGNC:HGNC:8860
    See related
    Ensembl:ENSG00000112357; HPRD:03454; MIM:601757; Vega:OTTHUMG00000015650
    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
    RD; PBD9B; PTS2R; RCDP1
    Summary
    This gene encodes the cytosolic receptor for the set of peroxisomal matrix enzymes targeted to the organelle by the peroxisome targeting signal 2 (PTS2). Defects in this gene cause peroxisome biogenesis disorders (PBDs), which are characterized by multiple defects in peroxisome function. There are at least 14 complementation groups for PBDs, with more than one phenotype being observed in cases falling into particular complementation groups. Although the clinical features of PBD patients vary, cells from all PBD patients exhibit a defect in the import of one or more classes of peroxisomal matrix proteins into the organelle. Defects in this gene have been associated with PBD complementation group 11 (PBD-CG11) disorders, rhizomelic chondrodysplasia punctata type 1 (RCDP1), and Refsum disease (RD). [provided by RefSeq, Oct 2008]
    Orthologs
    See PEX7 in Epigenomics, MapViewer
    Location:
    6q23.3
    Exon count:
    11
    Annotation release Status Assembly Chr Location
    107 current GRCh38.p2 (GCF_000001405.28) 6 NC_000006.12 (136822220..136913934)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (137143702..137235072)

    Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene mitogen-activated protein kinase kinase kinase 5 Neighboring gene uncharacterized LOC105378016 Neighboring gene uncharacterized LOC101928429 Neighboring gene ribosomal protein L7a pseudogene 37 Neighboring gene solute carrier family 35, member D3 Neighboring gene ribosomal protein L35a pseudogene 3

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    • 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

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enzyme binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    peroxisome matrix targeting signal-2 binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    protein homodimerization activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Process Evidence Code Pubs
    endochondral ossification IEA
    Inferred from Electronic Annotation
    more info
     
    ether lipid biosynthetic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    fatty acid beta-oxidation IEA
    Inferred from Electronic Annotation
    more info
     
    neuron migration IEA
    Inferred from Electronic Annotation
    more info
     
    peroxisome organization IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    protein import into peroxisome matrix IDA
    Inferred from Direct Assay
    more info
    PubMed 
    protein import into peroxisome matrix IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Component Evidence Code Pubs
    cytosol IDA
    Inferred from Direct Assay
    more info
    PubMed 
    peroxisomal matrix IDA
    Inferred from Direct Assay
    more info
    PubMed 
    peroxisome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Preferred Names
    peroxisomal biogenesis factor 7
    Names
    PTS2 receptor
    peroxin-7
    peroxisomal PTS2 receptor
    peroxisomal targeting signal 2 receptor
    peroxisome targeting signal 2 receptor

    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_008462.1 RefSeqGene

      Range
      4985..96355
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_000288.3NP_000279.1  peroxisomal biogenesis factor 7

      See identical proteins and their annotated locations for NP_000279.1

      Status: REVIEWED

      Source sequence(s)
      BP246238, BQ011494, U76560
      Consensus CDS
      CCDS5180.1
      UniProtKB/Swiss-Prot
      O00628
      UniProtKB/TrEMBL
      Q6FGN1
      Related
      ENSP00000315680, OTTHUMP00000017277, ENST00000318471, OTTHUMT00000042387
      Conserved Domains (2) summary
      COG2319
      Location:46322
      WD40; WD40 repeat [General function prediction only]
      cd00200
      Location:68315
      WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 107

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

    Reference GRCh38.p2 Primary Assembly

    Genomic

    1. NC_000006.12 Reference GRCh38.p2 Primary Assembly

      Range
      136822220..136913934
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006715502.1XP_006715565.1  

      Conserved Domains (2) summary
      COG2319
      Location:67217
      WD40; WD40 repeat [General function prediction only]
      cl02567
      Location:67219
      WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...
    2. XM_011535900.1XP_011534202.1  

      Conserved Domains (2) summary
      COG2319
      Location:46179
      WD40; WD40 repeat [General function prediction only]
      cl02567
      Location:67177
      WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...
    3. XM_005267019.3XP_005267076.1  

      Conserved Domains (2) summary
      COG2319
      Location:8284
      WD40; WD40 repeat [General function prediction only]
      cd00200
      Location:30277
      WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...

    Alternate CHM1_1.1

    Genomic

    1. NC_018917.2 Alternate CHM1_1.1

      Range
      137406427..137497705
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)