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

Gene ID: 475, updated on 3-Mar-2024

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
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Genomic context

See ATOX1 in Genome Data Viewer
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_000005.10Genomic Context describing neighboring genes Neighboring gene secreted protein acidic and cysteine rich Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr5:151063929-151064758 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:151065587-151066416 Neighboring gene H3K27ac hESC enhancer GRCh37_chr5:151066417-151067244 Neighboring gene colorectal liver metastasis associated transcript 3 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:151079020-151079841 Neighboring gene RN7SK pseudogene 232 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16525 Neighboring gene MPRA-validated peak5542 silencer Neighboring gene Sharpr-MPRA regulatory region 9564 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16526 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23461 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23462 Neighboring gene MPRA-validated peak5543 silencer Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23463 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23464 Neighboring gene MPRA-validated peak5544 silencer Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr5:151109002-151109538 Neighboring gene Sharpr-MPRA regulatory region 608 Neighboring gene Sharpr-MPRA regulatory regions 4972 and 759 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr5:151124409-151125608 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23466 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23467 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16527 Neighboring gene ATOX1 antisense RNA 1 Neighboring gene uncharacterized LOC100652758 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:151149602-151150323 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23468 Neighboring gene Sharpr-MPRA regulatory region 5918 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16528 Neighboring gene ribosomal protein lateral stalk subunit P1 pseudogene 6 Neighboring gene G3BP stress granule assembly factor 1

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

HIV-1 interactions

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

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Clone Names

  • MGC138453, MGC138455

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

Preferred Names
copper transport protein ATOX1
Names
ATX1 antioxidant protein 1 homolog
metal transport protein ATX1
NP_004036.1

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)

  1. NM_004045.4NP_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:563
    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 ...

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000005.10 Reference GRCh38.p14 Primary Assembly

    Range
    151742822..151758631 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060929.1 Alternate T2T-CHM13v2.0

    Range
    152281791..152297603 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)