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

    Gene ID: 5191, updated on 25-Jan-2024

    Summary

    Official Symbol
    PEX7provided by HGNC
    Official Full Name
    peroxisomal biogenesis factor 7provided by HGNC
    Primary source
    HGNC:HGNC:8860
    See related
    Ensembl:ENSG00000112357 MIM:601757; AllianceGenome:HGNC:8860
    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]
    Expression
    Ubiquitous expression in kidney (RPKM 4.4), thyroid (RPKM 4.3) and 25 other tissues See more
    Orthologs
    NEW
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    Try the new Transcript table

    Genomic context

    See PEX7 in Genome Data Viewer
    Location:
    6q23.3
    Exon count:
    11
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (136822592..136913934)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (138010773..138102113)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (137143730..137235072)

    Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene mitogen-activated protein kinase kinase kinase 5 Neighboring gene uncharacterized LOC124901410 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25119 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25120 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25121 Neighboring gene Sharpr-MPRA regulatory region 8718 Neighboring gene Sharpr-MPRA regulatory region 14394 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:137112365-137112880 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25122 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17575 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25125 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25124 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25123 Neighboring gene MAP3K5 antisense RNA 2 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:137143334-137144066 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:137144067-137144799 Neighboring gene MPRA-validated peak6150 silencer Neighboring gene MPRA-validated peak6151 silencer Neighboring gene small nucleolar RNA SNORA27 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:137242461-137242967 Neighboring gene ribosomal protein L7a pseudogene 37 Neighboring gene solute carrier family 35 member D3 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:137277696-137278264 Neighboring gene Sharpr-MPRA regulatory region 8118 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:137279401-137279967 Neighboring gene ribosomal protein L35a pseudogene 3

    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?

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables enzyme binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables peroxisome matrix targeting signal-2 binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables peroxisome matrix targeting signal-2 binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein homodimerization activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in endochondral ossification IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in ether lipid biosynthetic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in fatty acid beta-oxidation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in neuron migration IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in peroxisome organization IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in protein import into peroxisome matrix IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    acts_upstream_of_or_within protein import into peroxisome matrix IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in protein import into peroxisome matrix IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in protein import into peroxisome matrix IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in protein targeting to peroxisome IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    is_active_in cytosol IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    is_active_in cytosol IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in cytosol TAS
    Traceable Author Statement
    more info
     
    is_active_in peroxisomal matrix IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    is_active_in peroxisomal matrix IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in peroxisomal matrix 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
    peroxisomal biogenesis factor 7
    Names
    PTS2 receptor
    peroxin-7
    peroxisomal PTS2 receptor
    peroxisomal targeting signal 2 receptor
    peroxisome targeting signal 2 receptor

    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_008462.1 RefSeqGene

      Range
      5013..96355
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_000288.4NP_000279.1  peroxisomal biogenesis factor 7 isoform 1

      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
      C0H5X6, O00628
      UniProtKB/TrEMBL
      A0A7I2V2W7, Q6FGN1
      Related
      ENSP00000315680.3, ENST00000318471.5
      Conserved Domains (2) summary
      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 ...
      sd00039
      Location:70109
      7WD40; WD40 repeat [structural motif]
    2. NM_001410945.1NP_001397874.1  peroxisomal biogenesis factor 7 isoform 2

      Status: REVIEWED

      Source sequence(s)
      AL121933, AL365223
      Consensus CDS
      CCDS94011.1
      UniProtKB/TrEMBL
      A0A7I2V2J8, A0A7I2V2W7
      Related
      ENSP00000502962.1, ENST00000678557.1

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000006.12 Reference GRCh38.p14 Primary Assembly

      Range
      136822592..136913934
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006715502.3XP_006715565.1  peroxisomal biogenesis factor 7 isoform X1

      Conserved Domains (3) summary
      COG2319
      Location:67217
      WD40; WD40 repeat [General function prediction only]
      sd00039
      Location:70109
      7WD40; WD40 repeat [structural motif]
      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_047418874.1XP_047274830.1  peroxisomal biogenesis factor 7 isoform X2

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060930.1 Alternate T2T-CHM13v2.0

      Range
      138010773..138102113
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054355606.1XP_054211581.1  peroxisomal biogenesis factor 7 isoform X1

    2. XM_054355607.1XP_054211582.1  peroxisomal biogenesis factor 7 isoform X2