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
PDBOrtholog search: PDBe RCSB
Identifiers
AliasesPEX1, PBD1A, PBD1B, ZWS, ZWS1, HMLR1, peroxisomal biogenesis factor 1
External IDsOMIM: 602136 MGI: 1918632 HomoloGene: 27006 GeneCards: PEX1
Gene location (Human)
Chr.Chromosome 7 (human)[1]
Band7q21.2Start92,487,020 bp[1]
End92,528,520 bp[1]
RNA expression pattern


More reference expression data
Orthologs
SpeciesHumanMouse
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 MbChr 5: 3.6 – 3.64 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

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]

References

  1. GRCh38: Ensembl release 89: ENSG00000127980 - Ensembl, May 2017
  2. GRCm38: Ensembl release 89: ENSMUSG00000005907 - Ensembl, May 2017
  3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. "Entrez Gene: PEX1 peroxisome biogenesis factor 1".
  6. 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.
  7. 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. Bibcode:1998PNAS...95.8630G. doi:10.1073/pnas.95.15.8630. ISSN 0027-8424. PMC 21127. PMID 9671729.
  8. 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. S2CID 2426040.

Further reading


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