High affinity copper uptake protein 1

Protein-coding gene in the species Homo sapiens From Wikipedia, the free encyclopedia

High affinity copper uptake protein 1 (CTR1) is a protein that in humans is encoded by the SLC31A1 gene.[5][6]

PDBOrtholog search: PDBe RCSB
AliasesSLC31A1, COPT1, CTR1, solute carrier family 31 member 1
Quick facts SLC31A1, Available structures ...
SLC31A1
Available structures
PDBOrtholog search: PDBe RCSB
Identifiers
AliasesSLC31A1, COPT1, CTR1, solute carrier family 31 member 1
External IDsOMIM: 603085; MGI: 1333843; HomoloGene: 1399; GeneCards: SLC31A1; OMA:SLC31A1 - orthologs
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_001859

NM_175090

RefSeq (protein)

NP_001850

NP_780299

Location (UCSC)Chr 9: 113.22 – 113.26 MbChr 4: 62.28 – 62.31 Mb
PubMed search[3][4]
Wikidata
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Copper is an element essential for life, but excessive copper can be toxic or even lethal to the cell. Therefore, cells have developed sophisticated ways to maintain a critical copper balance, with the intake, export, and intracellular compartmentalization or buffering of copper strictly regulated. The 2 related genes ATP7A and ATP7B, responsible for the human diseases Menkes syndrome and Wilson disease, respectively, are involved in copper export. In S. cerevisiae, the copper uptake genes CTR1, CTR2, and CTR3 have been identified, and in human the CTR1 and CTR2 (MIM 603088) genes have been identified.[6]

Clinical significance

In 2022, a new autosomal-recessive disease was discovered that is caused by mutations of the CTR1 gene.[7] The disease is characterized by profound deficiency of copper in the central nervous system and presents with infantile seizures and neurodegeneration.

See also

References

Further reading

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