ATOX1 (antioxidant 1 copper chaperone)

2003-06-01  

Identity

HGNC
LOCATION
5q33.1
LOCUSID
ALIAS
ATX1,HAH1
FUSION GENES

Other Information

Locus ID:

NCBI: 475
MIM: 602270
HGNC: 798
Ensembl: ENSG00000177556

Variants:

dbSNP: 475
ClinVar: 475
TCGA: ENSG00000177556
COSMIC: ATOX1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000177556ENST00000313115O00244
ENSG00000177556ENST00000520382E5RGN3
ENSG00000177556ENST00000521264E5RIM7
ENSG00000177556ENST00000522314E5RGN3
ENSG00000177556ENST00000522710O00244
ENSG00000177556ENST00000524142O00244

Expression (GTEx)

0
5
10
15
20
25

Pathways

PathwaySourceExternal ID
Mineral absorptionKEGGko04978
Mineral absorptionKEGGhsa04978
Immune SystemREACTOMER-HSA-168256
Innate Immune SystemREACTOMER-HSA-168249
Cellular responses to stressREACTOMER-HSA-2262752
Detoxification of Reactive Oxygen SpeciesREACTOMER-HSA-3299685
Antimicrobial peptidesREACTOMER-HSA-6803157
Ion influx/efflux at host-pathogen interfaceREACTOMER-HSA-6803544

References

Pubmed IDYearTitleCitations
212581232011Unification of the copper(I) binding affinities of the metallo-chaperones Atx1, Atox1, and related proteins: detection probes and affinity standards.71
182457762008Novel role of antioxidant-1 (Atox1) as a copper-dependent transcription factor involved in cell proliferation.60
165716642006Structure of human Wilson protein domains 5 and 6 and their interplay with domain 4 and the copper chaperone HAH1 in copper uptake.48
120290942002Metallochaperone Atox1 transfers copper to the NH2-terminal domain of the Wilson's disease protein and regulates its catalytic activity.41
185587142008Metal binding domains 3 and 4 of the Wilson disease protein: solution structure and interaction with the copper(I) chaperone HAH1.32
157611972005Role of antioxidant-1 in extracellular superoxide dismutase function and expression.31
154763982004Solution structure of the apo and copper(I)-loaded human metallochaperone HAH1.30
126865482003X-ray absorption spectroscopy of the copper chaperone HAH1 reveals a linear two-coordinate Cu(I) center capable of adduct formation with exogenous thiols and phosphines.27
147095532004Binding of copper(I) by the Wilson disease protein and its copper chaperone.25
226484192012Functional partnership of the copper export machinery and glutathione balance in human cells.24

Citation

Dessen P

ATOX1 (antioxidant 1 copper chaperone)

Atlas Genet Cytogenet Oncol Haematol. 2003-06-01

Online version: http://atlasgeneticsoncology.org/gene/720/atox1