• Gene id: 475

Gene Summary

• Gene Symbol: ATOX1   Gene   UCSC   Ensembl
• Aliases: ATX1, HAH1
• Gene name: antioxidant 1 copper chaperone
• Alternate names: copper transport protein ATOX1, ATX1 antioxidant protein 1 homolog, metal transport protein ATX1,
• Gene location: 5q33.1 (151758630: 151742821)     Exons: 4     NC_000005.10
• Gene summary(Entrez): 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 antioxi
• OMIM: 602270

Protein Summary

• Protein general information: O00244  
  • Name: Copper transport protein ATOX1 (Metal transport protein ATX1)
  • Length: 68  
  • Mass: 7402
  • Tissue specificity: Ubiquitous.
• Sequence:

  MPKHEFSVDMTCGGCAEAVSRVLNKLGGVKYDIDLPNKKVCIESEHSMDTLLATLKKTGKTVSYLGLE

• Structural information:
  • Protein Domains: (2..6-)
    (/note="HMA-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00280"-)
  • Interpro: IPR017969  IPR006121  IPR036163  
  • Prosite: PS01047 PS50846
  • CDD: cd00371
  • PDB: 1FE0 1FE4 1FEE 1TL4 1TL5 2K1R 2LQ9 3CJK 3IWL 3IWX 4QOT 4YDX 4YEA 5F0W 5T7L
  • PDBsum: 1FE0 1FE4 1FEE 1TL4 1TL5 2K1R 2LQ9 3CJK 3IWL 3IWX 4QOT 4YDX 4YEA 5F0W 5T7L
  • STRING: ENSP00000430598
• Other Databases: GeneCards:  ATOX1  Malacards:  ATOX1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0006878	cellular copper ion homeostasis	IBA	biological process
GO:0006979	response to oxidative stress	IBA	biological process
GO:0016531	copper chaperone activity	IBA	molecular function
GO:0005829	cytosol	IBA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0030001	metal ion transport	IEA	biological process
GO:0046872	metal ion binding	IEA	molecular function
GO:0046872	metal ion binding	IEA	molecular function
GO:0006825	copper ion transport	IEA	biological process
GO:0006811	ion transport	IEA	biological process
GO:0006878	cellular copper ion homeostasis	TAS	biological process
GO:0006979	response to oxidative stress	TAS	biological process
GO:0005829	cytosol	TAS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0006825	copper ion transport	IEA	biological process
GO:0043066	negative regulation of apoptotic process	IEA	biological process
GO:0006878	cellular copper ion homeostasis	IEA	biological process
GO:0060003	copper ion export	IEA	biological process
GO:0051117	ATPase binding	IEA	molecular function
GO:0006979	response to oxidative stress	IEA	biological process
GO:0005507	copper ion binding	IDA	molecular function
GO:0016531	copper chaperone activity	IDA	molecular function
GO:0006825	copper ion transport	TAS	biological process
GO:0032767	copper-dependent protein binding	IPI	molecular function
GO:0016530	metallochaperone activity	TAS	molecular function
GO:0005829	cytosol	TAS	cellular component

KEGG pathways

Pathway id	Pathway name
hsa04978	Mineral absorption

Diseases

Associated diseases	References
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)