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

Summary

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: mouse all
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Genomic context

Location:: 7q21.2

Exon count:: 24

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	7	NC_000007.14 (92487025..92528520, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	7	NC_060931.1 (93728340..93769797, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	7	NC_000007.13 (92116339..92157834, complement)

Chromosome 7 - NC_000007.14 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Systematic study of ophthalmological findings in 10 patients with PEX1-mediated Zellweger spectrum disorder.
Title: Systematic study of ophthalmological findings in 10 patients with PEX1-mediated Zellweger spectrum disorder.
Ophthalmic Manifestations of Heimler Syndrome in Two Siblings With PEX1 Variants.
Title: Ophthalmic Manifestations of Heimler Syndrome in Two Siblings With PEX1 Variants.
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.
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.
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.
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.
Depletion of HNRNPA1 induces peroxisomal autophagy by regulating PEX1 expression.
Title: Depletion of HNRNPA1 induces peroxisomal autophagy by regulating PEX1 expression.
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.
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.
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.

Submit: New GeneRIF Correction See all GeneRIFs (28)

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
Heimler syndrome 1 MedGen: C4551980 OMIM: 234580 GeneReviews: Not available	Compare labs
Peroxisome biogenesis disorder 1A (Zellweger) MedGen: C4721541 OMIM: 214100 GeneReviews: Zellweger Spectrum Disorder	Compare labs
Peroxisome biogenesis disorder 1B MedGen: C0282527 OMIM: 601539 GeneReviews: Zellweger Spectrum Disorder	Compare labs

EBI GWAS Catalog

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

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

G31804 (e-PCR)
- UniSTS:50711

G67887 (e-PCR)
- UniSTS:225619

D22S1584 (e-PCR)
- UniSTS:473695

D1S1423 (e-PCR)
- UniSTS:149619

RH92096 (e-PCR)
- UniSTS:91302

SHGC-56142 (e-PCR)
- UniSTS:6842

RH45033 (e-PCR)
- UniSTS:77562

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	IBA Inferred from Biological aspect of Ancestor more info
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 more info	PubMed
located_in peroxisomal membrane	HDA more info	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

NG_008341.2 RefSeqGene

Range

5012..46507

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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
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
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)