Biology:High affinity copper uptake protein 1
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Short description: Protein-coding gene in the species Homo sapiens
 Generic protein structure example |
High affinity copper uptake protein 1 (CTR1) is a protein that in humans is encoded by the SLC31A1 gene.[1][2]
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.[2]
Clinical significance
In 2022, a new autosomal-recessive disease was discovered that is caused by mutations of the CTR1 gene.[3] The disease is characterized by profound deficiency of copper in the central nervous system and presents with infantile seizures and neurodegeneration.
See also
References
- ↑ "hCTR1: a human gene for copper uptake identified by complementation in yeast". Proc Natl Acad Sci U S A 94 (14): 7481–6. Aug 1997. doi:10.1073/pnas.94.14.7481. PMID 9207117. Bibcode: 1997PNAS...94.7481Z.
- ↑ 2.0 2.1 "Entrez Gene: SLC31A1 solute carrier family 31 (copper transporters), member 1". https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=1317.
- ↑ "Newly identified disorder of copper metabolism caused by variants in CTR1, a high-affinity copper transporter". Human Molecular Genetics 31 (24): 4121–4130. August 2022. doi:10.1093/hmg/ddac156. PMID 35913762.
Further reading
- "Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides". Gene 138 (1–2): 171–4. 1994. doi:10.1016/0378-1119(94)90802-8. PMID 8125298.
- "Construction and characterization of a full length-enriched and a 5'-end-enriched cDNA library". Gene 200 (1–2): 149–56. 1997. doi:10.1016/S0378-1119(97)00411-3. PMID 9373149.
- "Characterization of the hCTR1 gene: genomic organization, functional expression, and identification of a highly homologous processed gene". Gene 257 (1): 13–22. 2001. doi:10.1016/S0378-1119(00)00394-2. PMID 11054564.
- "Biochemical characterization of the human copper transporter Ctr1". J. Biol. Chem. 277 (6): 4380–7. 2002. doi:10.1074/jbc.M104728200. PMID 11734551.
- "Biochemical and genetic analyses of yeast and human high affinity copper transporters suggest a conserved mechanism for copper uptake". J. Biol. Chem. 277 (29): 26021–30. 2002. doi:10.1074/jbc.M202547200. PMID 11983704.
- "Biochemical characterization and subcellular localization of human copper transporter 1 (hCTR1)". Biochem. J. 364 (Pt 2): 497–505. 2002. doi:10.1042/BJ20011803. PMID 12023893.
- "Molecular characterization of hCTR1, the human copper uptake protein". J. Biol. Chem. 277 (32): 29162–71. 2002. doi:10.1074/jbc.M203652200. PMID 12034741.
- "Characterization of mouse embryonic cells deficient in the ctr1 high affinity copper transporter. Identification of a Ctr1-independent copper transport system". J. Biol. Chem. 277 (43): 40253–9. 2002. doi:10.1074/jbc.M208002200. PMID 12177073.
- "The N-terminus of the human copper transporter 1 (hCTR1) is localized extracellularly, and interacts with itself". Biochem. J. 370 (Pt 3): 881–9. 2003. doi:10.1042/BJ20021128. PMID 12466020.
- "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. 2003. doi:10.1073/pnas.242603899. PMID 12477932. Bibcode: 2002PNAS...9916899M.
- "Copper-stimulated endocytosis and degradation of the human copper transporter, hCtr1". J. Biol. Chem. 278 (11): 9639–46. 2003. doi:10.1074/jbc.M209455200. PMID 12501239.
- "Complete sequencing and characterization of 21,243 full-length human cDNAs". Nat. Genet. 36 (1): 40–5. 2004. doi:10.1038/ng1285. PMID 14702039.
- "Identification of methionine-rich clusters that regulate copper-stimulated endocytosis of the human Ctr1 copper transporter". J. Biol. Chem. 279 (17): 17428–33. 2004. doi:10.1074/jbc.M401493200. PMID 14976198.
- "Cisplatin stabilizes a multimeric complex of the human Ctr1 copper transporter: requirement for the extracellular methionine-rich clusters". J. Biol. Chem. 279 (45): 46393–9. 2004. doi:10.1074/jbc.M407777200. PMID 15326162.
- "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–7. 2004. doi:10.1101/gr.2596504. PMID 15489334.
- "Stable plasma membrane levels of hCTR1 mediate cellular copper uptake". J. Biol. Chem. 280 (10): 9635–9. 2005. doi:10.1074/jbc.M500116200. PMID 15634665.
- "Towards a proteome-scale map of the human protein-protein interaction network". Nature 437 (7062): 1173–8. 2005. doi:10.1038/nature04209. PMID 16189514. Bibcode: 2005Natur.437.1173R.
- "Expression, localisation and hormone regulation of the human copper transporter hCTR1 in placenta and choriocarcinoma Jeg-3 cells". Placenta 27 (9–10): 968–77. 2006. doi:10.1016/j.placenta.2005.10.011. PMID 16356544.
- "Projection structure of the human copper transporter CTR1 at 6-A resolution reveals a compact trimer with a novel channel-like architecture". Proc. Natl. Acad. Sci. U.S.A. 103 (10): 3627–32. 2006. doi:10.1073/pnas.0509929103. PMID 16501047. Bibcode: 2006PNAS..103.3627A.
This article incorporates text from the United States National Library of Medicine, which is in the public domain.
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