PEX1

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PEX1
Available structures
PDB Ortholog search: PDBe RCSB
Identifiers
Aliases PEX1, PBD1A, PBD1B, ZWS, ZWS1, HMLR1, peroxisomal biogenesis factor 1
External IDs MGI: 1918632 HomoloGene: 27006 GeneCards: 5189
RNA expression pattern
PBB GE PEX1 204873 at tn.png

PBB GE PEX1 215023 s at tn.png
More reference expression data
Orthologs
Species Human Mouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_000466
NM_001282677
NM_001282678

NM_001293806
NM_027777
NM_177211

RefSeq (protein)

NP_000457.1
NP_001269606.1
NP_001269607.1

NP_001280735.1
NP_082053.1

Location (UCSC) Chr 7: 92.49 – 92.53 Mb Chr 5: 3.6 – 3.64 Mb
PubMed search [1] [2]
Wikidata
View/Edit Human View/Edit Mouse

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

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.[1]

Interactions[edit]

PEX1 has been shown to interact with PEX6[2][3] and PEX26.[4]

References[edit]

  1. ^ a b "Entrez Gene: PEX1 peroxisome biogenesis factor 1". 
  2. ^ Tamura, S; Shimozawa N; Suzuki Y; Tsukamoto T; Osumi T; Fujiki Y (Apr 1998). "A cytoplasmic AAA family peroxin, Pex1p, interacts with Pex6p". Biochem. Biophys. Res. Commun. (UNITED STATES) 245 (3): 883–6. doi:10.1006/bbrc.1998.8522. ISSN 0006-291X. PMID 9588209. 
  3. ^ Geisbrecht, B V; Collins C S; Reuber B E; Gould S J (Jul 1998). "Disruption of a PEX1-PEX6 interaction is the most common cause of the neurologic disorders Zellweger syndrome, neonatal adrenoleukodystrophy, and infantile Refsum disease". Proc. Natl. Acad. Sci. U.S.A. (UNITED STATES) 95 (15): 8630–5. doi:10.1073/pnas.95.15.8630. ISSN 0027-8424. PMC 21127. PMID 9671729. 
  4. ^ Matsumoto, Naomi; Tamura Shigehiko; Fujiki Yukio (May 2003). "The pathogenic peroxin Pex26p recruits the Pex1p-Pex6p AAA ATPase complexes to peroxisomes". Nat. Cell Biol. (England) 5 (5): 454–60. doi:10.1038/ncb982. ISSN 1465-7392. PMID 12717447. 

Further reading[edit]

External links[edit]