PEX1

Also known as PBD1A, PBD1B, ZWS, ZWS1, HMLR1, peroxisomal biogenesis factor 1

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

Gene data

PEX1

Name: peroxisomal biogenesis factor 1
Type: protein-coding
Position: 92,487,020–92,528,663 (−)
Aliases: HMLR1, PBD1A, PBD1B, ZWS, ZWS1
Ensembl: ENSG00000127980
RefSeq RNA: NM_000466.3, NM_001282677.2, NM_001282678.2, XM_047420472.1, XM_047420473.1
RefSeq protein: NP_000457.1, NP_001269606.1, NP_001269607.1, XP_047276428.1, XP_047276429.1

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].

Pathways

Peroxisome - Homo sapiens (human)Peroxisomal protein import Peroxisomal protein import Protein localization Protein localization

via MyGene.info

Gene · Ensembl

peroxisomal biogenesis factor 1

Symbol: PEX1
Biotype: Protein coding
Organism: Homo sapiens
Location: 7:92,487,020-92,528,663
Strand: Reverse (−)
Assembly: GRCh38

View on Ensembl →

via Ensembl · EMBL-EBI

Wikidata facts

Instance of: gene

Show 9 more facts

HomoloGene ID: 27006
genomic start: 92116334
found in taxon: Homo sapiens
exact match: identifiers.org/ncbigene/5189
genomic end: 92528520
chromosome: human chromosome 7
cytogenetic location: 7q21.2
genetic association: Zellweger syndrome
expressed in: tibial nerve

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Encyclopedic overview

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

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.

Excerpted from Wikipedia’s “PEX1” article, available under the CC BY-SA 4.0 licence.