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PEX1 peroxisomal biogenesis factor 1 [ Homo sapiens (human) ]

Gene ID: 5189, updated on 11-Apr-2024

Summary

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Official Symbol
PEX1provided by HGNC
Official Full Name
peroxisomal biogenesis factor 1provided by HGNC
Primary source
HGNC:HGNC:8850
See related
Ensembl:ENSG00000127980 MIM:602136; AllianceGenome:HGNC:8850
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
ZWS; ZWS1; HMLR1; PBD1A; PBD1B
Summary
This gene encodes a member of the AAA ATPase family, a large group of ATPases associated with diverse cellular activities. This protein is cytoplasmic but is often anchored to a peroxisomal membrane where it forms a heteromeric complex and plays a role in the import of proteins into peroxisomes and peroxisome biogenesis. Mutations in this gene have been associated with complementation group 1 peroxisomal disorders such as neonatal adrenoleukodystrophy, infantile Refsum disease, and Zellweger syndrome. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Sep 2013]
Expression
Ubiquitous expression in thyroid (RPKM 8.3), kidney (RPKM 7.5) and 25 other tissues See more
Orthologs
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Genomic context

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See PEX1 in Genome Data Viewer
Location:
7q21.2
Exon count:
24
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (92487025..92528520, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (93728340..93769797, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (92116339..92157834, complement)

Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18371 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26260 Neighboring gene coiled-coil-helix-coiled-coil-helix domain containing 4 pseudogene 1 Neighboring gene GATA zinc finger domain containing 1 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:92105944-92106445 Neighboring gene ERVW-1 upstream regulatory region Neighboring gene endogenous retrovirus group W member 1, envelope Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26261 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18372 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26262 Neighboring gene RNA binding motif protein 48 Neighboring gene family with sequence similarity 133 member B Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26263 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26264

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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

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Related articles in PubMed

  1. Comparison of human PEX knockout cell lines suggests a dual role of PEX1 in peroxisome biogenesis. Ott J, et al. Biol Chem, 2023 Feb 23. PMID 36534601
  2. Two siblings with Heimler syndrome caused by PEX1 variants: follow-up of ophthalmologic findings. Herijgers D, et al. Ophthalmic Genet, 2021 Aug. PMID 33955814
  3. Exome sequencing reveals novel genetic loci influencing obesity-related traits in Hispanic children. Sabo A, et al. Obesity (Silver Spring), 2017 Jul. PMID 28508493, Free PMC Article
  4. Novel compound heterozygous mutations in the PEX1 gene in two Chinese newborns with Zellweger syndrome based on whole exome sequencing. Ge MM, et al. Clin Chim Acta, 2017 Jul. PMID 28432012
  5. Analysis of a Chinese pedigree with Zellweger syndrome reveals a novel PEX1 mutation by next-generation sequencing. Sun Y, et al. Clin Chim Acta, 2013 Feb 18. PMID 23247051

See all (83) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Ophthalmic Manifestations of Heimler Syndrome in Two Siblings With PEX1 Variants.
    Title: Ophthalmic Manifestations of Heimler Syndrome in Two Siblings With PEX1 Variants.
  2. Novel PEX1 mutations in fibroblasts from children with Zellweger spectrum disorders exhibit temperature sensitive characteristics.
    Title: Novel PEX1 mutations in fibroblasts from children with Zellweger spectrum disorders exhibit temperature sensitive characteristics.
  3. Comparison of human PEX knockout cell lines suggests a dual role of PEX1 in peroxisome biogenesis.
    Title: Comparison of human PEX knockout cell lines suggests a dual role of PEX1 in peroxisome biogenesis.
  4. Two siblings with Heimler syndrome caused by PEX1 variants: follow-up of ophthalmologic findings.
    Title: Two siblings with Heimler syndrome caused by PEX1 variants: follow-up of ophthalmologic findings.
  5. 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.
  6. Depletion of HNRNPA1 induces peroxisomal autophagy by regulating PEX1 expression.
    Title: Depletion of HNRNPA1 induces peroxisomal autophagy by regulating PEX1 expression.
  7. 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.
  8. 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.
  9. 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.
  10. heterozygous mutations in the PEX1 gene in two Chinese newborns with Zellweger syndrome
    Title: Novel compound heterozygous mutations in the PEX1 gene in two Chinese newborns with Zellweger syndrome based on whole exome sequencing.
Submit: New GeneRIF Correction See all GeneRIFs (27)

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

EBI GWAS Catalog

Description
Many sequence variants affecting diversity of adult human height.
EBI GWAS Catalog

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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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
acts_upstream_of_or_within microtubule-based peroxisome localization IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in microtubule-based peroxisome localization IMP
Inferred from Mutant Phenotype
more info
 PubMed 
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 IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in protein import into peroxisome matrix, receptor recycling IDA
Inferred from Direct Assay
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
  
located_in extracellular exosome HDA PubMed 
located_in peroxisomal membrane HDA PubMed 
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 peroxisomal membrane IDA
Inferred from Direct Assay
more info
 PubMed 
located_in peroxisome IDA
Inferred from Direct Assay
more info
 PubMed 

General protein information

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Preferred Names
peroxisomal ATPase PEX1
Names
Zellweger syndrome
peroxin-1
peroxisome biogenesis disorder protein 1

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

  1. NG_008341.2 RefSeqGene

    Range
    5012..46507
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_000466.3 → NP_000457.1  peroxisomal ATPase PEX1 isoform 1

    See identical proteins and their annotated locations for NP_000457.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the longest isoform (1).
    Source sequence(s)
    AF026086, AI377121, BC035575, DA313282, DB461678
    Consensus CDS
    CCDS5627.1
    UniProtKB/Swiss-Prot
    A4D1G3, A8KA90, B4DIM7, E9PE75, O43933, Q96S71, Q96S72, Q96S73, Q99994
    Related
    ENSP00000248633.4, ENST00000248633.9
    Conserved Domains (4) summary
    COG0464
    Location:595 → 1063
    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:877 → 1006
    AAA; ATPase family associated with various cellular activities (AAA)
    pfam09262
    Location:104 → 179
    PEX-1N; Peroxisome biogenesis factor 1, N-terminal
    pfam09263
    Location:19 → 98
    PEX-2N; Peroxisome biogenesis factor 1, N-terminal

  2. NM_001282677.2 → NP_001269606.1  peroxisomal ATPase PEX1 isoform 2

    See identical proteins and their annotated locations for NP_001269606.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) is missing an in-frame coding exon compared to variant 1. The resulting shorter isoform (2) lacks an internal protein segment compared to isoform 1.
    Source sequence(s)
    AB052090, BC035575, DA313282, DB461678
    Consensus CDS
    CCDS64710.1
    UniProtKB/TrEMBL
    A0A0C4DG33
    Related
    ENSP00000394413.1, ENST00000428214.5
    Conserved Domains (5) summary
    cd00009
    Location:581 → 642
    AAA; The AAA+ (ATPases Associated with a wide variety of cellular Activities) superfamily represents an ancient group of ATPases belonging to the ASCE (for additional strand, catalytic E) division of the P-loop NTPase fold. The ASCE division also includes ABC, ...
    COG0464
    Location:595 → 1006
    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:820 → 949
    AAA; ATPase family associated with various cellular activities (AAA)
    pfam09262
    Location:104 → 179
    PEX-1N; Peroxisome biogenesis factor 1, N-terminal
    pfam09263
    Location:19 → 98
    PEX-2N; Peroxisome biogenesis factor 1, N-terminal

  3. NM_001282678.2 → NP_001269607.1  peroxisomal ATPase PEX1 isoform 3

    See identical proteins and their annotated locations for NP_001269607.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) uses an alternate donor splice site in the 5' region, which results in translation initiation from an in-frame downstream start codon, compared to variant 1. The resulting isoform (3) has a shorter N-terminus compared to isoform 1.
    Source sequence(s)
    BC035575, DA313282, DB461678, DC370317
    UniProtKB/TrEMBL
    B4DER6
    Related
    ENST00000484913.5
    Conserved Domains (2) summary
    COG0464
    Location:387 → 855
    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:669 → 798
    AAA; ATPase family associated with various cellular activities (AAA)

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_000007.14 Reference GRCh38.p14 Primary Assembly

    Range
    92487025..92528520 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047420473.1 → XP_047276429.1  peroxisomal ATPase PEX1 isoform X2

  2. XM_047420472.1 → XP_047276428.1  peroxisomal ATPase PEX1 isoform X1

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060931.1 Alternate T2T-CHM13v2.0

    Range
    93728340..93769797 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054358401.1 → XP_054214376.1  peroxisomal ATPase PEX1 isoform X2

  2. XM_054358400.1 → XP_054214375.1  peroxisomal ATPase PEX1 isoform X1

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
O43933.1 GenPept UniProtKB/Swiss-Prot:O43933

Gene LinkOut

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

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