Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	475
Gene name	Antioxidant 1 copper chaperone
Gene symbol	ATOX1
Synonyms (NCBI Gene)	ATX1HAH1
Chromosome	5
Chromosome location	5q33.1
Summary	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

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Show/Hide all (146)

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
MIRT572380	hsa-miR-9500	PAR-CLIP	20371350
MIRT572379	hsa-miR-25-3p	PAR-CLIP	20371350
MIRT572378	hsa-miR-32-5p	PAR-CLIP	20371350
MIRT572377	hsa-miR-363-3p	PAR-CLIP	20371350
MIRT572376	hsa-miR-367-3p	PAR-CLIP	20371350
MIRT572375	hsa-miR-92a-3p	PAR-CLIP	20371350
MIRT572374	hsa-miR-92b-3p	PAR-CLIP	20371350
MIRT572373	hsa-miR-6132	PAR-CLIP	20371350
MIRT572372	hsa-miR-6836-5p	PAR-CLIP	20371350
MIRT572371	hsa-miR-1909-3p	PAR-CLIP	20371350
MIRT572370	hsa-miR-6722-3p	PAR-CLIP	20371350
MIRT572368	hsa-miR-4533	PAR-CLIP	20371350
MIRT572369	hsa-miR-137	PAR-CLIP	20371350
MIRT572367	hsa-miR-6511b-5p	PAR-CLIP	20371350
MIRT572366	hsa-miR-6811-5p	PAR-CLIP	20371350
MIRT444268	hsa-miR-4635	PAR-CLIP	22100165
MIRT444267	hsa-miR-570-3p	PAR-CLIP	22100165
MIRT444268	hsa-miR-4635	PAR-CLIP	22100165
MIRT444267	hsa-miR-570-3p	PAR-CLIP	22100165
MIRT572382	hsa-miR-4476	PAR-CLIP	20371350
MIRT572381	hsa-miR-6876-5p	PAR-CLIP	20371350
MIRT572380	hsa-miR-9500	PAR-CLIP	20371350
MIRT572379	hsa-miR-25-3p	PAR-CLIP	20371350
MIRT572378	hsa-miR-32-5p	PAR-CLIP	20371350
MIRT572377	hsa-miR-363-3p	PAR-CLIP	20371350
MIRT572376	hsa-miR-367-3p	PAR-CLIP	20371350
MIRT572375	hsa-miR-92a-3p	PAR-CLIP	20371350
MIRT572374	hsa-miR-92b-3p	PAR-CLIP	20371350
MIRT572373	hsa-miR-6132	PAR-CLIP	20371350
MIRT572372	hsa-miR-6836-5p	PAR-CLIP	20371350
MIRT572371	hsa-miR-1909-3p	PAR-CLIP	20371350
MIRT572370	hsa-miR-6722-3p	PAR-CLIP	20371350
MIRT572368	hsa-miR-4533	PAR-CLIP	20371350
MIRT572369	hsa-miR-137	PAR-CLIP	20371350
MIRT572367	hsa-miR-6511b-5p	PAR-CLIP	20371350
MIRT572366	hsa-miR-6811-5p	PAR-CLIP	20371350
MIRT444268	hsa-miR-4635	PAR-CLIP	22100165
MIRT444267	hsa-miR-570-3p	PAR-CLIP	22100165
MIRT444268	hsa-miR-4635	PAR-CLIP	22100165
MIRT444267	hsa-miR-570-3p	PAR-CLIP	22100165
MIRT806236	hsa-miR-1913	CLIP-seq
MIRT806237	hsa-miR-25	CLIP-seq
MIRT806238	hsa-miR-3065-5p	CLIP-seq
MIRT806239	hsa-miR-32	CLIP-seq
MIRT806240	hsa-miR-324-3p	CLIP-seq
MIRT806241	hsa-miR-363	CLIP-seq
MIRT806242	hsa-miR-367	CLIP-seq
MIRT806243	hsa-miR-4310	CLIP-seq
MIRT806244	hsa-miR-4313	CLIP-seq
MIRT806245	hsa-miR-4722-3p	CLIP-seq
MIRT806246	hsa-miR-4793-5p	CLIP-seq
MIRT806247	hsa-miR-646	CLIP-seq
MIRT806248	hsa-miR-9	CLIP-seq
MIRT806249	hsa-miR-92a	CLIP-seq
MIRT806250	hsa-miR-92b	CLIP-seq
MIRT2177572	hsa-miR-1182	CLIP-seq
MIRT2177573	hsa-miR-3591-3p	CLIP-seq
MIRT2177574	hsa-miR-3691-3p	CLIP-seq
MIRT2177575	hsa-miR-4304	CLIP-seq
MIRT806243	hsa-miR-4310	CLIP-seq
MIRT2177576	hsa-miR-4480	CLIP-seq
MIRT806246	hsa-miR-4793-5p	CLIP-seq
MIRT2177577	hsa-miR-549	CLIP-seq
MIRT2177578	hsa-miR-873	CLIP-seq
MIRT2177579	hsa-miR-941	CLIP-seq
MIRT2480967	hsa-miR-1231	CLIP-seq
MIRT2480968	hsa-miR-1299	CLIP-seq
MIRT2480969	hsa-miR-133a	CLIP-seq
MIRT2480970	hsa-miR-133b	CLIP-seq
MIRT2480971	hsa-miR-1587	CLIP-seq
MIRT806236	hsa-miR-1913	CLIP-seq
MIRT2480972	hsa-miR-1914	CLIP-seq
MIRT2480973	hsa-miR-1915	CLIP-seq
MIRT2480974	hsa-miR-3120-5p	CLIP-seq
MIRT2480975	hsa-miR-3144-5p	CLIP-seq
MIRT2480976	hsa-miR-3151	CLIP-seq
MIRT2480977	hsa-miR-3191	CLIP-seq
MIRT806240	hsa-miR-324-3p	CLIP-seq
MIRT2177574	hsa-miR-3691-3p	CLIP-seq
MIRT2480978	hsa-miR-4265	CLIP-seq
MIRT2480979	hsa-miR-4296	CLIP-seq
MIRT806243	hsa-miR-4310	CLIP-seq
MIRT806244	hsa-miR-4313	CLIP-seq
MIRT2480980	hsa-miR-4322	CLIP-seq
MIRT2480981	hsa-miR-4417	CLIP-seq
MIRT2480982	hsa-miR-4447	CLIP-seq
MIRT2480983	hsa-miR-4472	CLIP-seq
MIRT2177576	hsa-miR-4480	CLIP-seq
MIRT2480984	hsa-miR-4492	CLIP-seq
MIRT2480985	hsa-miR-4498	CLIP-seq
MIRT2480986	hsa-miR-4652-5p	CLIP-seq
MIRT2480987	hsa-miR-4656	CLIP-seq
MIRT2480988	hsa-miR-4675	CLIP-seq
MIRT806245	hsa-miR-4722-3p	CLIP-seq
MIRT2480989	hsa-miR-4726-3p	CLIP-seq
MIRT2480990	hsa-miR-4741	CLIP-seq
MIRT2480991	hsa-miR-4786-3p	CLIP-seq
MIRT806246	hsa-miR-4793-5p	CLIP-seq
MIRT2480992	hsa-miR-491-5p	CLIP-seq
MIRT2480993	hsa-miR-671-5p	CLIP-seq
MIRT2480994	hsa-miR-762	CLIP-seq
MIRT2480995	hsa-miR-875-3p	CLIP-seq
MIRT806248	hsa-miR-9	CLIP-seq
MIRT2480967	hsa-miR-1231	CLIP-seq
MIRT2480968	hsa-miR-1299	CLIP-seq
MIRT2480969	hsa-miR-133a	CLIP-seq
MIRT2480970	hsa-miR-133b	CLIP-seq
MIRT2480971	hsa-miR-1587	CLIP-seq
MIRT806236	hsa-miR-1913	CLIP-seq
MIRT2480972	hsa-miR-1914	CLIP-seq
MIRT2480973	hsa-miR-1915	CLIP-seq
MIRT2480974	hsa-miR-3120-5p	CLIP-seq
MIRT2480975	hsa-miR-3144-5p	CLIP-seq
MIRT2480976	hsa-miR-3151	CLIP-seq
MIRT2480977	hsa-miR-3191	CLIP-seq
MIRT806240	hsa-miR-324-3p	CLIP-seq
MIRT2177574	hsa-miR-3691-3p	CLIP-seq
MIRT2480978	hsa-miR-4265	CLIP-seq
MIRT2480979	hsa-miR-4296	CLIP-seq
MIRT806243	hsa-miR-4310	CLIP-seq
MIRT806244	hsa-miR-4313	CLIP-seq
MIRT2480980	hsa-miR-4322	CLIP-seq
MIRT2480981	hsa-miR-4417	CLIP-seq
MIRT2480982	hsa-miR-4447	CLIP-seq
MIRT2480983	hsa-miR-4472	CLIP-seq
MIRT2177576	hsa-miR-4480	CLIP-seq
MIRT2480984	hsa-miR-4492	CLIP-seq
MIRT2480985	hsa-miR-4498	CLIP-seq
MIRT2480986	hsa-miR-4652-5p	CLIP-seq
MIRT2480987	hsa-miR-4656	CLIP-seq
MIRT2480988	hsa-miR-4675	CLIP-seq
MIRT806245	hsa-miR-4722-3p	CLIP-seq
MIRT2480989	hsa-miR-4726-3p	CLIP-seq
MIRT2480990	hsa-miR-4741	CLIP-seq
MIRT2480991	hsa-miR-4786-3p	CLIP-seq
MIRT806246	hsa-miR-4793-5p	CLIP-seq
MIRT2480992	hsa-miR-491-5p	CLIP-seq
MIRT2480993	hsa-miR-671-5p	CLIP-seq
MIRT2480994	hsa-miR-762	CLIP-seq
MIRT2480995	hsa-miR-875-3p	CLIP-seq
MIRT806248	hsa-miR-9	CLIP-seq

Show/Hide all (23)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005507	Function	Copper ion binding	IDA	12029094
GO:0005515	Function	Protein binding	IPI	12968035, 21667063, 24837030, 25416956, 26745413, 32296183
GO:0005829	Component	Cytosol	IBA
GO:0005829	Component	Cytosol	TAS	12029094
GO:0006811	Process	Monoatomic ion transport	IEA
GO:0006825	Process	Copper ion transport	IBA
GO:0006825	Process	Copper ion transport	IEA
GO:0006825	Process	Copper ion transport	IEA
GO:0006825	Process	Copper ion transport	TAS	15670166
GO:0006878	Process	Intracellular copper ion homeostasis	IEA
GO:0006878	Process	Intracellular copper ion homeostasis	TAS	9430722
GO:0006979	Process	Response to oxidative stress	IEA
GO:0006979	Process	Response to oxidative stress	TAS	9430722
GO:0016530	Function	Metallochaperone activity	TAS	15670166
GO:0016531	Function	Copper chaperone activity	IBA
GO:0016531	Function	Copper chaperone activity	IDA	12029094
GO:0032767	Function	Copper-dependent protein binding	IDA	31283225
GO:0032767	Function	Copper-dependent protein binding	IPI	10497213
GO:0043066	Process	Negative regulation of apoptotic process	IEA
GO:0046872	Function	Metal ion binding	IEA
GO:0051117	Function	ATPase binding	IEA
GO:0060003	Process	Copper ion export	IEA
GO:1903136	Function	Cuprous ion binding	IDA	31283225

MIM	HGNC	e!Ensembl
602270	798	ENSG00000177556

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

MPKHEFSVDMTCGGCAEAVSRVLNKLGGVKYDIDLPNKKVCIESEHSMDTLLATLKKTGK
TVSYLGLE

Sequence length

Interactions

View interactions

	KEGG		Reactome
	Mineral absorption		Ion influx/efflux at host-pathogen interface

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Unknown Diseases (5)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
COLORECTAL NEOPLASMS	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEPATITIS, CHRONIC	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERTENSION	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERTENSIVE DISEASE	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LUNG NEOPLASMS	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (35)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
5q-syndrome	5q-syndrome	BEFREE	10982193		★★★★★ ★☆☆☆☆ Found in Text Mining only
Arteriosclerosis	Arteriosclerosis	BEFREE	31553645		★★★★★ ★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	BEFREE	31553645		★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	27942658, 28027931		★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	20543960, 27942658, 28027931, 31898157, 31932435	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	31317143	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	23624903		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colitis Ulcerative	Ulcerative colitis	Pubtator	37904461	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	31961892	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cutis laxa, x-linked	Cutis Laxa, X-Linked	BEFREE	12594858		★★★★★ ★☆☆☆☆ Found in Text Mining only
dopamine beta hydroxylase deficiency	Dopamine Beta Hydroxylase Deficiency	BEFREE	12594858		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hepatolenticular Degeneration	Hepatolenticular Degeneration	BEFREE	10425268, 10585777, 12029094, 12420134, 12763797, 12872841, 18416466, 22677543, 27744583, 28653724, 30980273, 31283225, 31321400		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hepatolenticular Degeneration	Hepatolenticular degeneration	Pubtator	10497213, 10557326, 12029094, 14709553, 18416466, 18558714, 19181666	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	CTD_human_DG	22753205		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Intracranial Aneurysm	Intracranial aneurysm	Pubtator	39847889	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung Neoplasms	CTD_human_DG	23624903		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung Neoplasms	Lung neoplasms	Pubtator	23624903	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malformations of Cortical Development, Group II	Malformation of cortical development	BEFREE	28027931		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	27942658, 28027931		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	23624903		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	CTD_human_DG	23624903		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	31317143		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of skin	Skin cancer	BEFREE	31317143		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	28549213, 28711491, 31317143		★★★★★ ★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	31317143		★★★★★ ★☆☆☆☆ Found in Text Mining only
Melanoma	Melanoma	Pubtator	31317143	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Menkes Kinky Hair Syndrome	Menkes Kinky Hair Syndrome	BEFREE	12420134, 12594858, 29687769		★★★★★ ★☆☆☆☆ Found in Text Mining only
Myelodysplastic Syndrome with Isolated del(5q)	Myelodysplastic syndrome	BEFREE	10982193		★★★★★ ★☆☆☆☆ Found in Text Mining only
Nasopharyngeal carcinoma	Nasopharyngeal Carcinoma	BEFREE	30507306		★★★★★ ★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	23624903		★★★★★ ★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	BEFREE	30352250, 31600047		★★★★★ ★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	31317143		★★★★★ ★☆☆☆☆ Found in Text Mining only
Spinocerebellar Ataxia Type 1	Spinocerebellar Ataxia	BEFREE	21827903		★★★★★ ★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	29802697	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Vascular Diseases	Vascular Diseases	BEFREE	23349186		★★★★★ ★☆☆☆☆ Found in Text Mining only

ATOX1 (antioxidant 1 copper chaperone)