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

    Gene ID: 5189, updated on 8-Aug-2021

    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
    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

    See PEX1 in Genome Data Viewer
    Location:
    7q21.2
    Exon count:
    24
    Annotation release Status Assembly Chr Location
    109.20210514 current GRCh38.p13 (GCF_000001405.39) 7 NC_000007.14 (92487023..92528520, complement)
    105.20201022 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 coiled-coil-helix-coiled-coil-helix domain containing 4 pseudogene 1 Neighboring gene GATA zinc finger domain containing 1 Neighboring gene ERVW-1 upstream regulatory region Neighboring gene endogenous retrovirus group W member 1, envelope Neighboring gene RNA binding motif protein 48 Neighboring gene family with sequence similarity 133 member B

    Genomic regions, transcripts, and products

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    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
    PubMed 
    enables ATP hydrolysis activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    enables protein C-terminus binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein-containing complex binding 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
    PubMed 
    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
    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

    Preferred Names
    peroxisome biogenesis factor 1
    Names
    Zellweger syndrome
    peroxin-1
    peroxisome biogenesis disorder protein 1

    NCBI Reference Sequences (RefSeq)

    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_008341.2 RefSeqGene

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

    mRNA and Protein(s)

    1. NM_000466.3NP_000457.1  peroxisome biogenesis factor 1 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
      O43933
      Related
      ENSP00000248633.4, ENST00000248633.9
      Conserved Domains (4) summary
      COG0464
      Location:5951063
      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:8771006
      AAA; ATPase family associated with various cellular activities (AAA)
      pfam09262
      Location:104179
      PEX-1N; Peroxisome biogenesis factor 1, N-terminal
      pfam09263
      Location:1998
      PEX-2N; Peroxisome biogenesis factor 1, N-terminal
    2. NM_001282677.2NP_001269606.1  peroxisome biogenesis factor 1 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/Swiss-Prot
      O43933
      UniProtKB/TrEMBL
      A0A0C4DG33
      Related
      ENSP00000394413.1, ENST00000428214.5
      Conserved Domains (5) summary
      cd00009
      Location:581642
      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:5951006
      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:820949
      AAA; ATPase family associated with various cellular activities (AAA)
      pfam09262
      Location:104179
      PEX-1N; Peroxisome biogenesis factor 1, N-terminal
      pfam09263
      Location:1998
      PEX-2N; Peroxisome biogenesis factor 1, N-terminal
    3. NM_001282678.2NP_001269607.1  peroxisome biogenesis factor 1 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/Swiss-Prot
      O43933
      UniProtKB/TrEMBL
      B4DER6
      Related
      ENST00000484913.5
      Conserved Domains (2) summary
      COG0464
      Location:387855
      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:669798
      AAA; ATPase family associated with various cellular activities (AAA)

    RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000007.14 Reference GRCh38.p13 Primary Assembly

      Range
      92487023..92528520 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017012319.2XP_016867808.1  peroxisome biogenesis factor 1 isoform X1

      Conserved Domains (2) summary
      COG0464
      Location:12480
      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:294423
      AAA; ATPase family associated with various cellular activities (AAA)

    RNA

    1. XR_242246.5 RNA Sequence

    2. XR_001744808.2 RNA Sequence

      Related
      ENST00000438045.5
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