Gene

pex1

ID
ZDB-GENE-070530-1
Name
peroxisomal biogenesis factor 1
Symbol
pex1 Nomenclature History
Previous Names
None
Type
protein_coding_gene
Location
Chr: 19 Mapping Details/Browsers
Description
Predicted to have ATPase activity. Predicted to be involved in protein import into peroxisome matrix. Predicted to localize to cytosol and peroxisomal membrane. Human ortholog(s) of this gene implicated in Heimler syndrome 1; infantile Refsum disease; and peroxisome biogenesis disorder 1A. Orthologous to human PEX1 (peroxisomal biogenesis factor 1).
Genome Resources
Note
None
Expression
All Expression Data
No data available
Cross-Species Comparison
High Throughput Data
No data available
Thisse Expression Data
Wild Type Expression Summary
Phenotype
All Phenotype Data
No data available
Cross-Species Comparison
Alliance
Phenotype Summary
Mutations
Mutants
Sequence Targeting Reagents
Human Disease
Associated With pex1 Human Ortholog
Disease Ontology Term Multi-Species Data OMIM Term OMIM Phenotype ID
Heimler syndrome 1 Alliance Heimler syndrome 1 234580
peroxisome biogenesis disorder 1A Alliance Peroxisome biogenesis disorder 1A (Zellweger) 214100
Peroxisome biogenesis disorder 1B (NALD/IRD) 601539
Associated With pex1 Via Experimental Models
No data available
Gene Ontology
Protein Domains
Domain, Family, and Site Summary
Type InterPro ID Name
Conserved_site IPR003960 ATPase, AAA-type, conserved site
Domain IPR003593 AAA+ ATPase domain
Domain IPR003959 ATPase, AAA-type, core
Domain IPR015342 Peroxisome biogenesis factor 1, N-terminal, psi beta-barrel fold
Domain IPR015343 Peroxisome biogenesis factor 1, N-terminal, alpha/beta
Domain IPR041569 AAA ATPase, AAA+ lid domain
Family IPR025653 Peroxisome biogenesis factor 1
Homologous_superfamily IPR009010 Aspartate decarboxylase-like domain superfamily
Homologous_superfamily IPR027417 P-loop containing nucleoside triphosphate hydrolase
Homologous_superfamily IPR029067 CDC48 domain 2-like superfamily
Domain Details Per Protein
Protein Length AAA ATPase, AAA+ lid domain AAA+ ATPase domain Aspartate decarboxylase-like domain superfamily ATPase, AAA-type, conserved site ATPase, AAA-type, core CDC48 domain 2-like superfamily Peroxisome biogenesis factor 1 Peroxisome biogenesis factor 1, N-terminal, alpha/beta Peroxisome biogenesis factor 1, N-terminal, psi beta-barrel fold P-loop containing nucleoside triphosphate hydrolase
UniProtKB:D2CK11 1237
UniProtKB:A0A0R4IPF0 1237
Transcripts
Genome Browsers
Interactions and Pathways
No data available
Antibodies
No data available
Plasmids
No data available
Constructs
Marker Relationships
Sequences
Orthology
Gene Tree
Ensembl
Citations