Homo sapiens Gene: PEX1

Summary
InnateDB Gene IDBG-26608.5
Last Modified 2012-02-14   [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
IDBP-26612 peroxisomal biogenesis factor 1
IDBP-381815 peroxisomal biogenesis factor 1
IDBP-381825 peroxisomal biogenesis factor 1
IDBP-381826 peroxisomal biogenesis factor 1
IDBP-597049 peroxisomal biogenesis factor 1
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]
Gene Information
Type Protein coding
Genomic Location Chromosome 7: 92116334-92157845
Strand Reverse strand
Band q21.2
Transcripts
ENST00000248633  ENSP00000248633
ENST00000438045  ENSP00000410438
ENST00000428214  ENSP00000394413
ENST00000422866  ENSP00000389594
ENST00000496420 
ENST00000477342 
ENST00000484913 
ENST00000469417 
ENST00000496092 
ENST00000476923 
ENST00000541751  ENSP00000438637
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  7
[view]
Protein‑DNA 0
Protein‑RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
 
Gene Ontology
Accession GO Term
Molecular Function
GO:0000166 nucleotide binding
GO:0005515 protein binding
GO:0005524 ATP binding
GO:0008022 protein C-terminus binding
GO:0009378 four-way junction helicase activity
GO:0017111 nucleoside-triphosphatase activity
GO:0032403 protein complex binding
GO:0042623 ATPase activity, coupled
Biological 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:0005634 nucleus
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
ENSMUSG00000005907 Ortholuge SSD Ortholog Ortholog supports species divergence
ENSBTAG00000024431 Not yet available Ortholuge SSD Ortholog Ortholog supports species divergence
Pathways
NETPATH
REACTOME
KEGG
hsa04146  Peroxisome
INOH
PID BIOCARTA
PID NCI
Cross-References
SwissProt O43933 
TrEMBL B4DER6 B4DEY5 E9PE75 Q96S69 Q96S70
UniProt Splice Variant
Entrez Gene 5189 
UniGene Hs.164682
RefSeq NM_000466 
HUGO 8850 
OMIM 602136
CCDS CCDS5627 
HPRD 03682
IMGT
EMBL AB008112 AB052090 AB052091 AB052092 AB052093 AB052094 AC000064 AC007566 AF026086 AF030356 AK292955 AK293757 AK293848 BC035575 CH236949 CH471091
GenPept AAB46346  AAB87880  AAB99758  AAH35575  BAA85162  BAB59061  BAB59062  BAB59063  BAB59064  BAB59065  BAF85644  BAG57177  BAG57246  EAL24149  EAW76840 
ImmGen PEX1 (murine) 
RNA Seq Atlas 5189