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

Gene ID: 5191, updated on 13-Feb-2019

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
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

Genomic context

See PEX7 in Genome Data Viewer
Location:
6q23.3
Exon count:
11
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 6 NC_000006.12 (136821683..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 LOC101928461 Neighboring gene RNA, 5S ribosomal pseudogene 219 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

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 FunctionsWhat's a GeneRIF?

Pathways from BioSystems

  • 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 ...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

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 binding IPI
Inferred from Physical Interaction
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 
protein targeting to peroxisome TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
cytosol IDA
Inferred from Direct Assay
more info
PubMed 
cytosol TAS
Traceable Author Statement
more info
 
peroxisomal matrix IDA
Inferred from Direct Assay
more info
PubMed 
peroxisomal membrane TAS
Traceable Author Statement
more info
 
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)

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_000288.4NP_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
    ENSP00000315680.3, ENST00000318471.4
    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]

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000006.12 Reference GRCh38.p12 Primary Assembly

    Range
    136821683..136913934
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017010934.2XP_016866423.1  peroxisomal biogenesis factor 7 isoform X3

    Conserved Domains (3) summary
    COG2319
    Location:46179
    WD40; WD40 repeat [General function prediction only]
    sd00039
    Location:70107
    7WD40; WD40 repeat [structural motif]
    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 ...
  2. XM_006715502.2XP_006715565.1  peroxisomal biogenesis factor 7 isoform X2

    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 ...
  3. XM_005267019.4XP_005267076.1  peroxisomal biogenesis factor 7 isoform X1

    Conserved Domains (3) 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 ...
    sd00039
    Location:3271
    7WD40; WD40 repeat [structural motif]
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