ATOX1

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ATX1 antioxidant protein 1 homolog (yeast)
Protein ATOX1 PDB 1fe0.png
PDB rendering based on 1fe0.
Available structures
PDB Ortholog search: PDBe, RCSB
Identifiers
Symbols ATOX1 ; ATX1; HAH1
External IDs OMIM602270 MGI1333855 HomoloGene2984 GeneCards: ATOX1 Gene
EC number 6.2.1.2
RNA expression pattern
PBB GE ATOX1 203454 s at tn.png
More reference expression data
Orthologs
Species Human Mouse
Entrez 475 11927
Ensembl ENSG00000177556 ENSMUSG00000018585
UniProt O00244 O08997
RefSeq (mRNA) NM_004045 NM_009720
RefSeq (protein) NP_004036 NP_033850
Location (UCSC) Chr 5:
151.12 – 151.15 Mb
Chr 11:
55.45 – 55.46 Mb
PubMed search [1] [2]

Copper transport protein ATOX1 is a protein that in humans is encoded by the ATOX1 gene.[1][2]

Function[edit]

This gene encodes a copper chaperone that plays a role in copper homeostasis by binding and transporting cytosolic copper to ATPase proteins in the trans-Golgi network for later incorporation to the ceruloplasmin. This protein also functions as an antioxidant against superoxide and hydrogen peroxide, and therefore, may play a significant role in cancer carcinogenesis. Because of its cytogenetic location, this gene represents a candidate gene for 5q-syndrome.[2]

In melanocytic cells ATOX1 gene expression may be regulated by MITF.[3]

Interactions[edit]

ATOX1 has been shown to interact with Wilson disease protein[4][5] and ATP7A.[4]

References[edit]

  1. ^ Klomp LW, Lin SJ, Yuan DS, Klausner RD, Culotta VC, Gitlin JD (May 1997). "Identification and functional expression of HAH1, a novel human gene involved in copper homeostasis". J Biol Chem 272 (14): 9221–6. doi:10.1074/jbc.272.14.9221. PMID 9083055. 
  2. ^ a b "Entrez Gene: ATOX1 ATX1 antioxidant protein 1 homolog (yeast)". 
  3. ^ Hoek KS, Schlegel NC, Eichhoff OM, et al. (2008). "Novel MITF targets identified using a two-step DNA microarray strategy". Pigment Cell Melanoma Res. 21 (6): 665–76. doi:10.1111/j.1755-148X.2008.00505.x. PMID 19067971. 
  4. ^ a b Larin D, Mekios C, Das K, Ross B, Yang AS, Gilliam TC (October 1999). "Characterization of the interaction between the Wilson and Menkes disease proteins and the cytoplasmic copper chaperone, HAH1p". J. Biol. Chem. 274 (40): 28497–504. doi:10.1074/jbc.274.40.28497. PMID 10497213. 
  5. ^ Hamza I, Schaefer M, Klomp LW, Gitlin JD (November 1999). "Interaction of the copper chaperone HAH1 with the Wilson disease protein is essential for copper homeostasis". Proc. Natl. Acad. Sci. U.S.A. 96 (23): 13363–8. doi:10.1073/pnas.96.23.13363. PMC 23953. PMID 10557326. 

Further reading[edit]