U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

PEX6 peroxisomal biogenesis factor 6 [ Homo sapiens (human) ]

Gene ID: 5190, updated on 11-Apr-2024

Summary

Go to the top of the page Help
Official Symbol
PEX6provided by HGNC
Official Full Name
peroxisomal biogenesis factor 6provided by HGNC
Primary source
HGNC:HGNC:8859
See related
Ensembl:ENSG00000124587 MIM:601498; AllianceGenome:HGNC:8859
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
PAF2; HMLR2; PAF-2; PBD4A; PDB4B; PXAAA1
Summary
This gene encodes a member of the AAA (ATPases associated with diverse cellular activities) family of ATPases. This member is a predominantly cytoplasmic protein, which plays a direct role in peroxisomal protein import and is required for PTS1 (peroxisomal targeting signal 1, a C-terminal tripeptide of the sequence ser-lys-leu) receptor activity. Mutations in this gene cause peroxisome biogenesis disorders of complementation group 4 and complementation group 6. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2015]
Expression
Ubiquitous expression in prostate (RPKM 9.4), ovary (RPKM 8.7) and 25 other tissues See more
Orthologs
mouse all
NEW
Try the new Gene table
Try the new Transcript table

Genomic context

Go to the top of the page Help
See PEX6 in Genome Data Viewer
Location:
6p21.1
Exon count:
17
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (42963865..42979181, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (42793003..42808304, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (42931603..42946919, complement)

Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene CNPY3-GNMT readthrough Neighboring gene long intergenic non-protein coding RNA 2976 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:42928211-42928712 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24581 Neighboring gene RPL24 pseudogene 4 Neighboring gene ReSE screen-validated silencer GRCh37_chr6:42935679-42935875 Neighboring gene glycine N-methyltransferase Neighboring gene H3K27ac hESC enhancer GRCh37_chr6:42938260-42939130 Neighboring gene H3K27ac hESC enhancer GRCh37_chr6:42939131-42939999 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:42946179-42947120 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24582 Neighboring gene ReSE screen-validated silencer GRCh37_chr6:42947525-42947721 Neighboring gene uncharacterized LOC124900215 Neighboring gene ReSE screen-validated silencer GRCh37_chr6:42948960-42949178 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24583 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17211 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17212 Neighboring gene Sharpr-MPRA regulatory region 14905 Neighboring gene protein phosphatase 2 regulatory subunit B'delta Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:42979352-42979852 Neighboring gene male-enhanced antigen 1

Genomic regions, transcripts, and products

Go to the top of the page Help

Go to nucleotide: Graphics FASTA GenBank

Expression

Go to the top of the page Help
  • 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

Go to the top of the pageHelp

Related articles in PubMed

  1. Exome sequencing identifies PEX6 mutations in three cases diagnosed with Retinitis Pigmentosa and hearing impairment. García-García G, et al. Mol Vis, 2020. PMID 32214787, Free PMC Article
  2. Ophthalmic manifestations of Heimler syndrome due to PEX6 mutations. Wangtiraumnuay N, et al. Ophthalmic Genet, 2018 Jun. PMID 29676688
  3. Allelic Expression Imbalance Promoting a Mutant PEX6 Allele Causes Zellweger Spectrum Disorder. Falkenberg KD, et al. Am J Hum Genet, 2017 Dec 7. PMID 29220678, Free PMC Article
  4. Mild Zellweger syndrome due to a novel PEX6 mutation: correlation between clinical phenotype and in silico prediction of variant pathogenicity. Rydzanicz M, et al. J Appl Genet, 2017 Nov. PMID 29047053
  5. A founder mutation in the PEX6 gene is responsible for increased incidence of Zellweger syndrome in a French Canadian population. Levesque S, et al. BMC Med Genet, 2012 Aug 15. PMID 22894767, Free PMC Article

See all (59) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. [Zellweger syndrome caused by PEX6 gene variation in 2 cases and literature review].
    Title: [Zellweger syndrome caused by PEX6 gene variation in 2 cases and literature review].
  2. A homozygous Gly470Ala variant in PEX6 causes severe Zellweger spectrum disorder.
    Title: A homozygous Gly470Ala variant in PEX6 causes severe Zellweger spectrum disorder.
  3. The peroxisomal disorder spectrum and Heimler syndrome: Deep phenotyping and review of the literature.
    Title: The peroxisomal disorder spectrum and Heimler syndrome: Deep phenotyping and review of the literature.
  4. Exome sequencing identifies PEX6 mutations in three cases diagnosed with Retinitis Pigmentosa and hearing impairment.
    Title: Exome sequencing identifies PEX6 mutations in three cases diagnosed with Retinitis Pigmentosa and hearing impairment.
  5. There are no significant differences between PEX1-, PEX6-, and PEX26-associated phenotypes inclinical and genetic spectrum of Heimler syndrome.
    Title: Expanding the clinical and genetic spectrum of Heimler syndrome.
  6. This article reviews the abundant records of missense mutations described in Peroxisome biogenesis disorders patients with the aim to classify and rationalize them by mapping them onto a homology model of the human Pex1/Pex6 complex. [review]
    Title: Structural Mapping of Missense Mutations in the Pex1/Pex6 Complex.
  7. Mutation in PAX6 gene is associated with Ophthalmic manifestations of Heimler syndrome.
    Title: Ophthalmic manifestations of Heimler syndrome due to PEX6 mutations.
  8. This study provides evidence suggesting that monoubiquitinated PEX5 interacts directly with both PEX1 and PEX6 through its ubiquitin moiety and that the PEX5 polypeptide chain is globally unfolded during the ATP-dependent extraction event.
    Title: Peroxisomal monoubiquitinated PEX5 interacts with the AAA ATPases PEX1 and PEX6 and is unfolded during its dislocation into the cytosol.
  9. A novel homozygous PEX6 p.Ala94Pro mutation.
    Title: Mild Zellweger syndrome due to a novel PEX6 mutation: correlation between clinical phenotype and in silico prediction of variant pathogenicity.
  10. Overexpression models confirmed that the overrepresentation of the pathogenic PEX6 c.2578T variant compared to wild-type PEX6 c.2578C results in a peroxisome biogenesis defect and thus constitutes the cause of disease in the affected individuals.
    Title: Allelic Expression Imbalance Promoting a Mutant PEX6 Allele Causes Zellweger Spectrum Disorder.
Submit: New GeneRIF Correction See all GeneRIFs (25)

Phenotypes

Go to the top of the page Help

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
Heimler syndrome 2
MedGen: C4225267 OMIM: 616617 GeneReviews: Not available
Compare labs
Peroxisome biogenesis disorder
MedGen: C1832200 GeneReviews: Zellweger Spectrum Disorder
Compare labs
Peroxisome biogenesis disorder 4A (Zellweger)
MedGen: C3553936 OMIM: 614862 GeneReviews: Not available
Compare labs
Peroxisome biogenesis disorder 4B
MedGen: C3553937 OMIM: 614863 GeneReviews: Not available
Compare labs

Variation

Go to the top of the page Help

See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Pathways from PubChem

Go to the top of the page

Interactions

Go to the top of the page Help
Products Interactant Other Gene Complex Source Pubs Description

General gene information

Go to the top of the page Help

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables ATP binding IMP
Inferred from Mutant Phenotype
more info
 PubMed 
enables ATP hydrolysis activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables ATP hydrolysis activity IMP
Inferred from Mutant Phenotype
more info
 PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables protein transporter activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables protein-containing complex binding IDA
Inferred from Direct Assay
more info
 PubMed 
enables ubiquitin-modified protein reader activity IDA
Inferred from Direct Assay
more info
 PubMed 
Process Evidence Code Pubs
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
  
involved_in protein import into peroxisome matrix, receptor recycling IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in protein import into peroxisome matrix, translocation IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in protein stabilization IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in protein targeting to peroxisome IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in protein unfolding IDA
Inferred from Direct Assay
more info
 PubMed 
Component Evidence Code Pubs
located_in cytoplasm IDA
Inferred from Direct Assay
more info
 PubMed 
is_active_in cytosol IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in cytosol IDA
Inferred from Direct Assay
more info
 PubMed 
located_in cytosol TAS
Traceable Author Statement
more info
  
is_active_in peroxisomal membrane IBA
Inferred from Biological aspect of Ancestor
more info
  
is_active_in peroxisomal membrane IDA
Inferred from Direct Assay
more info
 PubMed 
located_in peroxisome IDA
Inferred from Direct Assay
more info
 PubMed 
located_in photoreceptor cell cilium IDA
Inferred from Direct Assay
more info
 PubMed 
located_in photoreceptor outer segment IEA
Inferred from Electronic Annotation
more info
  

General protein information

Go to the top of the page Help
Preferred Names
peroxisome biogenesis factor 6
Names
peroxin-6
peroxisomal AAA-type ATPase 1
peroxisomal ATPase PEX6
peroxisomal-type ATPase 1
peroxisome assembly factor 2

NCBI Reference Sequences (RefSeq)

Go to the top of the page Help

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_008370.1 RefSeqGene

    Range
    5063..20379
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_000287.4 → NP_000278.3  peroxisome biogenesis factor 6 isoform 1

    See identical proteins and their annotated locations for NP_000278.3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longer isoform (1).
    Source sequence(s)
    AL158815, BC033487, BQ773648, DA462214
    Consensus CDS
    CCDS4877.1
    UniProtKB/Swiss-Prot
    Q13608, Q5T8W1, Q8WYQ0, Q8WYQ1, Q8WYQ2, Q99476
    Related
    ENSP00000303511.8, ENST00000304611.13
    Conserved Domains (3) summary
    COG0464
    Location:463 → 967
    SpoVK; AAA+-type ATPase, SpoVK/Ycf46/Vps4 family [Cell wall/membrane/envelope biogenesis, Cell cycle control, cell division, chromosome partitioning, Signal transduction mechanisms]
    pfam00004
    Location:743 → 871
    AAA; ATPase family associated with various cellular activities (AAA)
    pfam09336
    Location:918 → 977
    Vps4_C; Vps4 C terminal oligomerization domain

  2. NM_001316313.2 → NP_001303242.1  peroxisome biogenesis factor 6 isoform 2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) uses an alternate in-frame splice junction in the 5' end compared to variant 1. The resulting isoform (2) has the same N- and C-termini but is shorter compared to isoform 1.
    Source sequence(s)
    AB051077, AL158815, BC033487, BQ773648
    UniProtKB/Swiss-Prot
    Q13608
    Conserved Domains (3) summary
    COG0464
    Location:375 → 879
    SpoVK; AAA+-type ATPase, SpoVK/Ycf46/Vps4 family [Cell wall/membrane/envelope biogenesis, Cell cycle control, cell division, chromosome partitioning, Signal transduction mechanisms]
    pfam00004
    Location:655 → 783
    AAA; ATPase family associated with various cellular activities (AAA)
    pfam09336
    Location:830 → 889
    Vps4_C; Vps4 C terminal oligomerization domain

RNA

  1. NR_133009.2 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) uses an alternate splice junction and lacks two exons compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AB051078, AL158815, BQ773648
    Related
    ENST00000244546.4

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
    42963865..42979181 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047418872.1 → XP_047274828.1  peroxisome biogenesis factor 6 isoform X2

  2. XM_011514661.3 → XP_011512963.1  peroxisome biogenesis factor 6 isoform X1

    Conserved Domains (3) summary
    COG0464
    Location:435 → 939
    SpoVK; AAA+-type ATPase, SpoVK/Ycf46/Vps4 family [Cell wall/membrane/envelope biogenesis, Cell cycle control, cell division, chromosome partitioning, Signal transduction mechanisms]
    pfam00004
    Location:715 → 843
    AAA; ATPase family associated with various cellular activities (AAA)
    pfam09336
    Location:890 → 949
    Vps4_C; Vps4 C terminal oligomerization domain

  3. XM_047418873.1 → XP_047274829.1  peroxisome biogenesis factor 6 isoform X3

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060930.1 Alternate T2T-CHM13v2.0

    Range
    42793003..42808304 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054355604.1 → XP_054211579.1  peroxisome biogenesis factor 6 isoform X2

  2. XM_054355603.1 → XP_054211578.1  peroxisome biogenesis factor 6 isoform X1

  3. XM_054355605.1 → XP_054211580.1  peroxisome biogenesis factor 6 isoform X3

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q13608.2 GenPept UniProtKB/Swiss-Prot:Q13608

Gene LinkOut

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

Chemical Information
Molecular Biology Databases
Research Materials
Tools
Miscellaneous