PEX1

Peroxisome biogenesis factor 1, also known as PEX1, is a protein which in humans is encoded by the PEX1 gene.^[5]

PEX1
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 1WLF
Identifiers
Aliases	PEX1, PBD1A, PBD1B, ZWS, ZWS1, HMLR1, peroxisomal biogenesis factor 1
External IDs	OMIM: 602136; MGI: 1918632; HomoloGene: 27006; GeneCards: PEX1; OMA:PEX1 - orthologs
Gene location (Human) Chr. Chromosome 7 (human)[1] Band 7q21.2 Start 92,487,020 bp[1] End 92,528,520 bp[1]
Gene location (Mouse) Chr. Chromosome 5 (mouse)[2] Band 5|5 A1 Start 3,646,066 bp[2] End 3,687,232 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in Achilles tendon body of pancreas gastric mucosa skin of leg right hemisphere of cerebellum skin of abdomen rectum C1 segment left lobe of thyroid gland tibial nerve Top expressed in zygote secondary oocyte neural layer of retina hand left lobe of liver primary oocyte tail of embryo epithelium of small intestine superior frontal gyrus yolk sac More reference expression data BioGPS More reference expression data
Gene ontology Molecular function protein-containing complex binding nucleotide binding protein C-terminus binding protein binding ATP binding ATPase activity Cellular component cytoplasm cytosol peroxisomal membrane peroxisome extracellular exosome membrane Biological process protein targeting to peroxisome protein transport microtubule-based peroxisome localization peroxisome organization protein import into peroxisome matrix transport Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 5189 71382 Ensembl ENSG00000127980 ENSMUSG00000005907 UniProt O43933 Q5BL07 RefSeq (mRNA) NM_000466 NM_001282677 NM_001282678 NM_001293806 NM_027777 NM_177211 RefSeq (protein) NP_000457 NP_001269606 NP_001269607 NP_001280735 NP_082053 Location (UCSC) Chr 7: 92.49 – 92.53 Mb Chr 5: 3.65 – 3.69 Mb PubMed search [3] [4]
Wikidata
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This gene encodes a member of the AAA protein 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.^[5]

Interactions

PEX1 has been shown to interact with PEX6^[6][7] and PEX26.^[8]

Related diseases

Mutations in the genes encoding PEX1, along with PEX6, are the leading causes of peroxisomal biogenesis disorders,^[9] such as Zellweger Syndrome spectrum, infantile Refsum disease, and neonatal adrenoleukodystrophy. These genetic diseases are autosomal recessive and occur in 1 of every 50,000 births.^[10] Because of the autosomal recessive inheritance of Zellweger Syndrome, PEX1 is usually found in carrier screening gene panels. A very common PEX1 variant, Gly843Asp, is a mild allele well-reported in the literature.^[11]