Homo sapiens Gene: PEX1
Summary
InnateDB Gene IDBG-26608.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol PEX1
Gene Name peroxisomal biogenesis factor 1
Synonyms PBD1A; PBD1B; ZWS; ZWS1;
Species Homo sapiens
Ensembl Gene ENSG00000127980
Encoded Proteins
peroxisomal biogenesis factor 1
peroxisomal biogenesis factor 1
peroxisomal biogenesis factor 1
peroxisomal biogenesis factor 1
Protein Structure
Entrez Gene
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. [provided by RefSeq, Jul 2008]
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]
Gene Information
Type Protein coding
Genomic Location Chromosome 7:92487020-92528531
Strand Reverse strand
Band q21.2
Transcripts
ENST00000248633 ENSP00000248633
ENST00000438045 ENSP00000410438
ENST00000428214 ENSP00000394413
ENST00000422866 ENSP00000389594
ENST00000496420
ENST00000477342
ENST00000484913
ENST00000469417
ENST00000496092
ENST00000476923
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 7 experimentally validated interaction(s) in this database.
Experimentally validated
Total 7 [view]
Protein-Protein 6 [view]
Protein-DNA 1 [view]
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
GO:0005515 protein binding
GO:0005524 ATP binding
GO:0008022 protein C-terminus binding
GO:0009378 four-way junction helicase activity
GO:0032403 protein complex binding
GO:0042623 ATPase activity, coupled
Biological Process
GO:0006200 ATP catabolic process
GO:0006281 DNA repair
GO:0006310 DNA recombination
GO:0006625 protein targeting to peroxisome
GO:0007031 peroxisome organization
GO:0016558 protein import into peroxisome matrix
GO:0060152 microtubule-based peroxisome localization
Cellular Component
GO:0005737 cytoplasm
GO:0005777 peroxisome
GO:0005778 peroxisomal membrane
GO:0005829 cytosol
GO:0043231 intracellular membrane-bounded organelle
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
Method
Confidence
Comments
SSD Ortholog
Ortholog supports species divergence
Not yet available
SSD Ortholog
Ortholog supports species divergence
Pathways
NETPATH
REACTOME
KEGG
Peroxisome pathway
INOH
PID BIOCARTA
PID NCI
Cross-References
SwissProt O43933
TrEMBL B4DER6 E9PE75 Q96S69 Q96S70
UniProt Splice Variant
Entrez Gene 5189
UniGene Hs.164682
RefSeq NM_000466 NM_001282677 NM_001282678
HUGO HGNC:8850
OMIM 602136
CCDS CCDS5627 CCDS64710
HPRD 03682
IMGT
EMBL AB008112 AB052090 AB052091 AB052092 AB052093 AB052094 AC000064 AC007566 AF026086 AF030356 AK292955 AK293757 BC035575 CH236949 CH471091
GenPept AAB46346 AAB87880 AAB99758 AAH35575 BAA85162 BAB59061 BAB59062 BAB59063 BAB59064 BAB59065 BAF85644 BAG57177 EAL24149 EAW76840
ImmGen PEX1 (murine)
RNA Seq Atlas 101929618 102724071 5189