Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
475
Gene name Gene Name - the full gene name approved by the HGNC.
Antioxidant 1 copper chaperone
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
ATOX1
Synonyms (NCBI Gene) Gene synonyms aliases
ATX1, HAH1
Chromosome Chromosome number
5
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
5q33.1
Summary Summary of gene provided in NCBI Entrez Gene.
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
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT028597 hsa-miR-30a-5p Proteomics 18668040
MIRT031845 hsa-miR-16-5p Sequencing 20371350
MIRT051900 hsa-let-7b-5p CLASH 23622248
MIRT572382 hsa-miR-4476 PAR-CLIP 20371350
MIRT572381 hsa-miR-6876-5p PAR-CLIP 20371350
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0005507 Function Copper ion binding IDA 12029094
GO:0005515 Function Protein binding IPI 12968035, 21667063, 25416956, 32296183
GO:0005829 Component Cytosol IBA 21873635
GO:0005829 Component Cytosol TAS 12029094
GO:0006825 Process Copper ion transport TAS 15670166
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
602270 798 ENSG00000177556
Protein
UniProt ID O00244
Protein name Copper transport protein ATOX1 (Metal transport protein ATX1)
Protein function Binds and deliver cytosolic copper to the copper ATPase proteins. May be important in cellular antioxidant defense.
PDB 1FE0 , 1FE4 , 1FEE , 1TL4 , 1TL5 , 2K1R , 2LQ9 , 3CJK , 3IWL , 3IWX , 4QOT , 4YDX , 4YEA , 5F0W , 5T7L , 7DC1 , 7ZC3
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00403 HMA 5 61 Heavy-metal-associated domain Domain
Tissue specificity TISSUE SPECIFICITY: Ubiquitous.
Sequence
Sequence length 68
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG   Reactome
  Mineral absorption   Ion influx/efflux at host-pathogen interface
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Hypertension Hypertensive disease rs13306026 22753205
Lung cancer Malignant neoplasm of lung rs121913530, rs121913529, rs878855122, rs1057519784, rs770315135 23624903
Associations from Text Mining
Disease Name Relationship Type References
Breast Neoplasms Associate 20543960, 27942658, 28027931, 31898157, 31932435
Breast Neoplasms Stimulate 31317143
Carcinoma Non Small Cell Lung Associate 23624903, 38041690
Colitis Ulcerative Associate 37904461
Colorectal Neoplasms Associate 31961892
Copper deficiency familial benign Associate 12029094
Hepatolenticular Degeneration Associate 10497213, 10557326, 12029094, 14709553, 18416466, 18558714, 19181666
Intracranial Aneurysm Associate 39847889
Lung Neoplasms Associate 23624903
Melanoma Associate 31317143