InnateDB: Systems Biology of the Innate Immune Response

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

IDBP-26612

peroxisomal biogenesis factor 1

IDBP-381815

peroxisomal biogenesis factor 1

IDBP-381825

peroxisomal biogenesis factor 1

IDBP-381826

peroxisomal biogenesis factor 1

Protein Structure

Useful resources

Stemformatics EHFPI ImmGen

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

ENSMUSG00000005907

View Gene Order

ENSBTAG00000024431

Not yet available

Pathways

NETPATH

REACTOME

KEGG

hsa04146

Peroxisome pathway

INOH

PID NCI

Cross-References

SwissProt

TrEMBL

UniProt Splice Variant

Entrez Gene

UniGene

Hs.164682

RefSeq

NM_000466 NM_001282677 NM_001282678

HUGO

OMIM

CCDS

CCDS5627 CCDS64710

HPRD

03682

IMGT

EMBL

GenPept

RNA Seq Atlas