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

Gene ID: 475, updated on 18-Aug-2020

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
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

Genomic context

See ATOX1 in Genome Data Viewer
Location:
5q33.1
Exon count:
4
Annotation release Status Assembly Chr Location
109.20200815 current GRCh38.p13 (GCF_000001405.39) 5 NC_000005.10 (151742822..151758631, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (151122383..151138210, complement)

Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene secreted protein acidic and cysteine rich Neighboring gene colorectal liver metastasis associated transcript 3 Neighboring gene RN7SK pseudogene 232 Neighboring gene uncharacterized LOC105378235 Neighboring gene uncharacterized LOC100652758 Neighboring gene Sharpr-MPRA regulatory region 5918 Neighboring gene ribosomal protein lateral stalk subunit P1 pseudogene 6

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

Homology

Clone Names

  • MGC138453, MGC138455

Gene Ontology Provided by GOA

Function Evidence Code Pubs
ATPase binding IEA
Inferred from Electronic Annotation
more info
 
copper chaperone activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
copper chaperone activity IDA
Inferred from Direct Assay
more info
PubMed 
copper ion binding IDA
Inferred from Direct Assay
more info
PubMed 
copper-dependent protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
metallochaperone activity TAS
Traceable Author Statement
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
cellular copper ion homeostasis IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
copper ion export IEA
Inferred from Electronic Annotation
more info
 
copper ion transport TAS
Traceable Author Statement
more info
PubMed 
negative regulation of apoptotic process IEA
Inferred from Electronic Annotation
more info
 
response to oxidative stress IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
cytosol IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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)

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
    O00244
    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: Homo sapiens Updated Annotation Release 109.20200815

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000005.10 Reference GRCh38.p13 Primary Assembly

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