PEX10

Peroxisome biogenesis factor 10 is a protein that in humans is encoded by the PEX10 gene.[5][6] Alternative splicing results in two transcript variants encoding different isoforms.

PEX10
Identifiers
AliasesPEX10, NALD, PBD6A, PBD6B, RNF69, peroxisomal biogenesis factor 10
External IDsOMIM: 602859 MGI: 2684988 HomoloGene: 5671 GeneCards: PEX10
Gene location (Human)
Chr.Chromosome 1 (human)[1]
Band1p36.32Start2,403,964 bp[1]
End2,413,797 bp[1]
RNA expression pattern


More reference expression data
Orthologs
SpeciesHumanMouse
Entrez

5192

668173

Ensembl

ENSG00000157911

ENSMUSG00000029047

UniProt

O60683

B1AUE5

RefSeq (mRNA)

NM_002617
NM_153818
NM_001374425
NM_001374426
NM_001374427

NM_001042407

RefSeq (protein)

NP_002608
NP_722540
NP_001361354
NP_001361355
NP_001361356

NP_001035866

Location (UCSC)Chr 1: 2.4 – 2.41 MbChr 4: 155.07 – 155.07 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Function

Peroxisome biogenesis factor 10 is involved in import of peroxisomal matrix proteins. This protein localizes to the peroxisomal membrane.[6]

Clinical significance

Mutations in this gene result in phenotypes within the Zellweger spectrum of peroxisomal biogenesis disorders, ranging from neonatal adrenoleukodystrophy to Zellweger syndrome.[6]

Interactions

PEX10 has been shown to interact with PEX12[7][8] and PEX19.[9][10]

References

  1. GRCh38: Ensembl release 89: ENSG00000157911 - Ensembl, May 2017
  2. GRCm38: Ensembl release 89: ENSMUSG00000029047 - 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. Warren DS, Morrell JC, Moser HW, Valle D, Gould SJ (December 1998). "Identification of PEX10, the gene defective in complementation group 7 of the peroxisome-biogenesis disorders". Am J Hum Genet. 63 (2): 347–59. doi:10.1086/301963. PMC 1377304. PMID 9683594.
  6. "Entrez Gene: PEX10 peroxisome biogenesis factor 10".
  7. Chang CC, Warren DS, Sacksteder KA, Gould SJ (November 1999). "PEX12 interacts with PEX5 and PEX10 and acts downstream of receptor docking in peroxisomal matrix protein import". J. Cell Biol. 147 (4): 761–74. doi:10.1083/jcb.147.4.761. PMC 2156163. PMID 10562279.
  8. Okumoto K, Abe I, Fujiki Y (August 2000). "Molecular anatomy of the peroxin Pex12p: ring finger domain is essential for Pex12p function and interacts with the peroxisome-targeting signal type 1-receptor Pex5p and a ring peroxin, Pex10p". J. Biol. Chem. 275 (33): 25700–10. doi:10.1074/jbc.M003303200. PMID 10837480.
  9. Sacksteder KA, Jones JM, South ST, Li X, Liu Y, Gould SJ (March 2000). "PEX19 binds multiple peroxisomal membrane proteins, is predominantly cytoplasmic, and is required for peroxisome membrane synthesis". J. Cell Biol. 148 (5): 931–44. doi:10.1083/jcb.148.5.931. PMC 2174547. PMID 10704444.
  10. Fransen M, Wylin T, Brees C, Mannaerts GP, Van Veldhoven PP (July 2001). "Human pex19p binds peroxisomal integral membrane proteins at regions distinct from their sorting sequences". Mol. Cell. Biol. 21 (13): 4413–24. doi:10.1128/MCB.21.13.4413-4424.2001. PMC 87101. PMID 11390669.

Further reading


This article is issued from Wikipedia. The text is licensed under Creative Commons - Attribution - Sharealike. Additional terms may apply for the media files.