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High affinity copper uptake protein 1

From Wikipedia, the free encyclopedia

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
View/Edit HumanView/Edit Mouse

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

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

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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

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References

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  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000136868Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000066150Ensembl, May 2017
  3. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ^ Zhou B, Gitschier J (Aug 1997). "hCTR1: a human gene for copper uptake identified by complementation in yeast". Proc Natl Acad Sci U S A. 94 (14): 7481–6. Bibcode:1997PNAS...94.7481Z. doi:10.1073/pnas.94.14.7481. PMC 23847. PMID 9207117.
  6. ^ a b "Entrez Gene: SLC31A1 solute carrier family 31 (copper transporters), member 1".
  7. ^ Batzios S, Tal G, DiStasio AT, Peng Y, Charalambous C, Nicolaides P, Kamsteeg EJ, Korman SH, Mandel H, Steinbach PJ, Yi L, Fair SR, Hester ME, Drousiotou A, Kaler SG (August 2022). "Newly identified disorder of copper metabolism caused by variants in CTR1, a high-affinity copper transporter". Human Molecular Genetics. 31 (24): 4121–4130. doi:10.1093/hmg/ddac156. PMC 9759326. PMID 35913762.

Further reading

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This article incorporates text from the United States National Library of Medicine, which is in the public domain.