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

Gene ID: 5189, updated on 7-Oct-2018

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; Vega:OTTHUMG00000023926
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

Genomic context

See PEX1 in Genome Data Viewer
Location:
7q21.2
Exon count:
24
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 7 NC_000007.14 (92487023..92528531, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (92116337..92157845, 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 Jun 15 11:32:44 2016

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Pathways from BioSystems

  • Peroxisome, organism-specific biosystem (from KEGG)
    Peroxisome, organism-specific biosystemPeroxisomes are essential organelles that play a key role in redox signalling and lipid homeostasis. They contribute to many crucial metabolic processes such as fatty acid oxidation, biosynthesis of ...
  • Peroxisome, conserved biosystem (from KEGG)
    Peroxisome, conserved biosystemPeroxisomes are essential organelles that play a key role in redox signalling and lipid homeostasis. They contribute to many crucial metabolic processes such as fatty acid oxidation, biosynthesis of ...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
ATP binding IMP
Inferred from Mutant Phenotype
more info
PubMed 
ATPase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
ATPase activity, coupled IMP
Inferred from Mutant Phenotype
more info
PubMed 
protein C-terminus binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein-containing complex binding IDA
Inferred from Direct Assay
more info
PubMed 
Process Evidence Code Pubs
microtubule-based peroxisome localization IMP
Inferred from Mutant Phenotype
more info
PubMed 
peroxisome organization IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
peroxisome organization IMP
Inferred from Mutant Phenotype
more info
PubMed 
protein import into peroxisome matrix IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
protein import into peroxisome matrix IMP
Inferred from Mutant Phenotype
more info
PubMed 
protein targeting to peroxisome IMP
Inferred from Mutant Phenotype
more info
PubMed 
protein targeting to peroxisome TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
cytosol IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cytosol IDA
Inferred from Direct Assay
more info
PubMed 
cytosol TAS
Traceable Author Statement
more info
 
extracellular exosome HDA PubMed 
peroxisomal membrane HDA PubMed 
peroxisomal membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
peroxisomal membrane IDA
Inferred from Direct Assay
more info
PubMed 
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)

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_008341.1 RefSeqGene

    Range
    5001..46509
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_000466.2NP_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, OTTHUMP00000161972, ENST00000248633.8, OTTHUMT00000254066
    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_001282677.1NP_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)
    AA490966, AB052090, BC035575, DA313282, DB461678
    Consensus CDS
    CCDS64710.1
    UniProtKB/Swiss-Prot
    O43933
    UniProtKB/TrEMBL
    A0A0C4DG33
    Related
    ENSP00000394413.1, OTTHUMP00000209040, ENST00000428214.5, OTTHUMT00000342659
    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_001282678.1NP_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)
    AA490966, BC035575, DA313282, DB461678, DC370317
    UniProtKB/Swiss-Prot
    O43933
    UniProtKB/TrEMBL
    B4DER6
    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 Annotation Release 109 details...Open this link in a new tab

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000007.14 Reference GRCh38.p12 Primary Assembly

    Range
    92487023..92528531 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

    Related
    ENST00000484913.5
  2. XR_001744808.2 RNA Sequence

    Related
    ENST00000438045.5
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