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

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: mouse all
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Genomic context

Location:: 6q23.3

Exon count:: 11

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	6	NC_000006.12 (136822592..136913934)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	6	NC_060930.1 (138010773..138102113)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	6	NC_000006.11 (137143730..137235072)

Chromosome 6 - NC_000006.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

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Expression

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See details

Project title: HPA RNA-seq normal tissues 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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Twins with PEX7 related intellectual disability and cataract: Highlighting phenotypes of peroxisome biogenesis disorder 9B.
Title: Twins with PEX7 related intellectual disability and cataract: Highlighting phenotypes of peroxisome biogenesis disorder 9B.
Data suggest that P7BP2 is localized to peroxisomes by binding to PEX5 via PEX7 in manner dependent on apparent PTS2 (type 2 peroxisomal targeting signal peptide) in N-terminal region of P7BP2; the PTS2 is subsequently cleaved off in peroxisomes. (P7BP2 = PEX7-binding protein-2; PEX5 = peroxisomal biogenesis factor-5; PEX7 = peroxisomal biogenesis factor-7)
Title: A newly isolated Pex7-binding, atypical PTS2 protein P7BP2 is a novel dynein-type AAA+ protein.
This revealed a marked plasmalogen deficiency and a deficient fatty acid alpha-oxidation in the IHH cells, due to a defect of PEX7, a cytosolic receptor protein required for peroxisomal import of a subset of peroxisomal proteins.
Title: Peroxisomal abnormalities in the immortalized human hepatocyte (IHH) cell line.
our data suggest that insertion of the trimeric PEX5-PEX7-PTS2 protein complex into the DTM is probably accompanied by conformational alterations in PEX5 to allow release of the PTS2 protein into the organelle matrix
Title: Revisiting the intraperoxisomal pathway of mammalian PEX7.
Mutation in the PEX7 Gene is associated with Rhizomelic Chondrodysplasia Punctata Type 1.
Title: Rhizomelic Chondrodysplasia Punctata Type 1 Caused by a Novel Mutation in the PEX7 Gene.
the sequential formation of a highly stable trimeric complex involving cargo protein, PEX7 and PEX5L stabilizes cargo binding and is a prerequisite for PTS2-mediated peroxisomal import.
Title: Mechanistic insights into PTS2-mediated peroxisomal protein import: the co-receptor PEX5L drastically increases the interaction strength between the cargo protein and the receptor PEX7.
dysfunctional Pex7p, including mutants from RCDP patients, is degraded by a ubiquitin-dependent proteasomal pathway involving the CRL4A (Cullin4A-RING ubiquitin ligase) complex.
Title: CUL4A-DDB1-Rbx1 E3 ligase controls the quality of the PTS2 receptor Pex7p.
Export of peroxisomal PEX7 back into the cytosol requires export of PEX5.
Title: A PEX7-centered perspective on the peroxisomal targeting signal type 2-mediated protein import pathway.
This results of this studt revealed the association of 2 single nucleotide polymorphisms and 1 haplotype with autism spectrum disorder (P < .05).
Title: Association between peroxisomal biogenesis factor 7 and autism spectrum disorders in a Korean population.
Structural requirements for interaction of peroxisomal targeting signal 2 and its receptor PEX7.
Title: Structural requirements for interaction of peroxisomal targeting signal 2 and its receptor PEX7.

Submit: New GeneRIF Correction See all GeneRIFs (19)

Phenotypes

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

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Peroxisome biogenesis disorder 9B MedGen: C2749346 OMIM: 614879 GeneReviews: Adult Refsum Disease	not available
Phytanic acid storage disease MedGen: C0034960 OMIM: 266500 GeneReviews: Adult Refsum Disease	not available
Rhizomelic chondrodysplasia punctata type 1 MedGen: C1859133 OMIM: 215100 GeneReviews: Rhizomelic Chondrodysplasia Punctata Type 1	not available

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

SHGC-82325 (e-PCR)
- UniSTS:104256

PEX7_2618 (e-PCR)
- UniSTS:280909

AFM214zf6 (e-PCR)
- UniSTS:70234

D1S1423 (e-PCR)
- UniSTS:149619

SHGC-83729 (e-PCR)
- UniSTS:104333

RH70703 (e-PCR)
- UniSTS:80273

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

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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)

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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

NG_008462.1 RefSeqGene

Range

5013..96355

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_000288.4 → NP_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:68 → 315

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:70 → 109

7WD40; WD40 repeat [structural motif]
NM_001410945.1 → NP_001397874.1 peroxisomal biogenesis factor 7 isoform 2

Status: REVIEWED

Source sequence(s)

AL121933, AL365223

Consensus CDS

CCDS94011.1

UniProtKB/TrEMBL

A0A7I2V2J8

Related

ENSP00000502962.1, ENST00000678557.1

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000006.12 Reference GRCh38.p14 Primary Assembly

Range

136822592..136913934

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

Conserved Domains (3) summary

COG2319
Location:67 → 217

WD40; WD40 repeat [General function prediction only]

sd00039
Location:70 → 109

7WD40; WD40 repeat [structural motif]

cl02567
Location:67 → 219

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 ...
XM_047418874.1 → XP_047274830.1 peroxisomal biogenesis factor 7 isoform X2