ATOX1 antioxidant 1 copper chaperone [Homo sapiens (human)] - Gene

Summary

Official Symbol: ATOX1provided by HGNC
Official Full Name: antioxidant 1 copper chaperoneprovided by HGNC
Primary source: HGNC:HGNC:798
See related: Ensembl:ENSG00000177556 MIM:602270; AllianceGenome:HGNC:798
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: ATX1; HAH1
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 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. [provided by RefSeq, Jul 2008]
Expression: Ubiquitous expression in liver (RPKM 54.4), kidney (RPKM 49.1) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 5q33.1

Exon count:: 4

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	5	NC_000005.10 (151742822..151758631, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	5	NC_060929.1 (152281791..152297603, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	5	NC_000005.9 (151122383..151138192, complement)

Chromosome 5 - NC_000005.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Copper coordination states affect the flexibility of copper Metallochaperone Atox1: Insights from molecular dynamics simulations.
Title: Copper coordination states affect the flexibility of copper Metallochaperone Atox1: Insights from molecular dynamics simulations.
Crystal Structure of the Human Copper Chaperone ATOX1 Bound to Zinc Ion.
Title: Crystal Structure of the Human Copper Chaperone ATOX1 Bound to Zinc Ion.
Memo1 binds reduced copper ions, interacts with copper chaperone Atox1, and protects against copper-mediated redox activity in vitro.
Title: Memo1 binds reduced copper ions, interacts with copper chaperone Atox1, and protects against copper-mediated redox activity in vitro.
Copper enhances genotoxic drug resistance via ATOX1 activated DNA damage repair.
Title: Copper enhances genotoxic drug resistance via ATOX1 activated DNA damage repair.
APEX2-based Proximity Labeling of Atox1 Identifies CRIP2 as a Nuclear Copper-binding Protein that Regulates Autophagy Activation.
Title: APEX2-based Proximity Labeling of Atox1 Identifies CRIP2 as a Nuclear Copper-binding Protein that Regulates Autophagy Activation.
Cu(I) Controls Conformational States in Human Atox1 Metallochaperone: An EPR and Multiscale Simulation Study.
Title: Cu(I) Controls Conformational States in Human Atox1 Metallochaperone: An EPR and Multiscale Simulation Study.
An EPR Study on the Interaction between the Cu(I) Metal Binding Domains of ATP7B and the Atox1 Metallochaperone.
Title: An EPR Study on the Interaction between the Cu(I) Metal Binding Domains of ATP7B and the Atox1 Metallochaperone.
Evaluation of copper chaperone ATOX1 as prognostic biomarker in breast cancer.
Title: Evaluation of copper chaperone ATOX1 as prognostic biomarker in breast cancer.
Genetic deletion of ATOX1 decreased MAPK pathway activation in BRAF V600E mutant melanoma.
Title: Copper chaperone ATOX1 is required for MAPK signaling and growth in BRAF mutation-positive melanoma.
The authors findings represent a functional role for Atox1 in colorectal cancer metastasis.
Title: Nuclear translocation of Atox1 potentiates activin A-induced cell migration and colony formation in colon cancer.

Submit: New GeneRIF Correction See all GeneRIFs (69)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Replication interactions

Interaction	Pubs
Knockdown of ATX1 antioxidant protein 1 homolog (ATOX1) by siRNA inhibits HIV-1 replication in HeLa P4/R5 cells	PubMed

Go to the HIV-1, Human Interaction Database

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH16152 (e-PCR)
- UniSTS:74276

NoName (e-PCR)
- UniSTS:486202

RH46133 (e-PCR)
- UniSTS:65925

bac5571S (e-PCR)
- UniSTS:181644

WI-18405 (e-PCR)
- UniSTS:40372

RH102104 (e-PCR)
- UniSTS:96438

PMC150598P1 (e-PCR)
- UniSTS:271063

PMC150598P2 (e-PCR)
- UniSTS:271064

PMC150598P3 (e-PCR)
- UniSTS:271065

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables copper chaperone activity	IBA Inferred from Biological aspect of Ancestor more info
enables copper chaperone activity	IDA Inferred from Direct Assay more info	PubMed
enables copper ion binding	IDA Inferred from Direct Assay more info	PubMed
enables copper-dependent protein binding	IDA Inferred from Direct Assay more info	PubMed
enables copper-dependent protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables cuprous ion binding	IDA Inferred from Direct Assay more info	PubMed
enables metallochaperone activity	TAS Traceable Author Statement more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in copper ion transport	IBA Inferred from Biological aspect of Ancestor more info
involved_in copper ion transport	TAS Traceable Author Statement more info	PubMed
involved_in intracellular copper ion homeostasis	IEA Inferred from Electronic Annotation more info
involved_in response to oxidative stress	TAS Traceable Author Statement more info	PubMed

Component	Evidence Code	Pubs
is_active_in cytosol	IBA Inferred from Biological aspect of Ancestor more info
located_in cytosol	TAS Traceable Author Statement more info	PubMed

General protein information

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Preferred Names: copper transport protein ATOX1

Names: ATX1 antioxidant protein 1 homolog; metal transport protein ATX1

NP_004036.1

EC 6.2.1.2

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_004045.4 → NP_004036.1 copper transport protein ATOX1

See identical proteins and their annotated locations for NP_004036.1

Status: REVIEWED

Source sequence(s)

BI599233, CN280769

Consensus CDS

CCDS47317.1

UniProtKB/Swiss-Prot

A8KAJ8, D3DQI2, O00244, Q2M1R6, Q56AP3

UniProtKB/TrEMBL

Q6IBA3

Related

ENSP00000316854.6, ENST00000313115.11

Conserved Domains (1) summary

cd00371
Location:5 → 63

HMA; Heavy-metal-associated domain (HMA) is a conserved domain of approximately 30 amino acid residues found in a number of proteins that transport or detoxify heavy metals, for example, the CPx-type heavy metal ATPases and copper chaperones. HMA domain ...