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

    Gene ID: 5189, updated on 12-Nov-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
    mouse all
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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_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_000007.14Genomic 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 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. Systematic study of ophthalmological findings in 10 patients with PEX1-mediated Zellweger spectrum disorder. Karuntu JS, et al. Ophthalmic Genet, 2024 Aug. PMID 38664000
    2. Gene assignment of Zellweger syndrome to 7q11.23: report of the second case associated with a pericentric inversion of chromosome 7. Naritomi K, et al. Hum Genet, 1989 Dec. PMID 2606480
    3. Human PEX1 is mutated in complementation group 1 of the peroxisome biogenesis disorders. Portsteffen H, et al. Nat Genet, 1997 Dec. PMID 9398848
    4. Two AAA family peroxins, PpPex1p and PpPex6p, interact with each other in an ATP-dependent manner and are associated with different subcellular membranous structures distinct from peroxisomes. Faber KN, et al. Mol Cell Biol, 1998 Feb. PMID 9447990, Free PMC Article
    5. Human PEX1 cloned by functional complementation on a CHO cell mutant is responsible for peroxisome-deficient Zellweger syndrome of complementation group I. Tamura S, et al. Proc Natl Acad Sci U S A, 1998 Apr 14. PMID 9539740, Free PMC Article

    See all (92) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. 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.
    2. Ophthalmic Manifestations of Heimler Syndrome in Two Siblings With PEX1 Variants.
      Title: Ophthalmic Manifestations of Heimler Syndrome in Two Siblings With PEX1 Variants.
    3. 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.
    4. 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.
    5. 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.
    6. 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.
    7. Depletion of HNRNPA1 induces peroxisomal autophagy by regulating PEX1 expression.
      Title: Depletion of HNRNPA1 induces peroxisomal autophagy by regulating PEX1 expression.
    8. 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.
    9. 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.
    10. 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
    		not available
    Peroxisome biogenesis disorder 1A (Zellweger)
    MedGen: C4721541 OMIM: 214100 GeneReviews: Zellweger Spectrum Disorder
    		not available
    Peroxisome biogenesis disorder 1B
    MedGen: C0282527 OMIM: 601539 GeneReviews: Zellweger Spectrum Disorder
    		not available

    EBI GWAS Catalog

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

    Variation

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    See Variation Viewer (GRCh37.p13)

    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 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 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_2024_08

    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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