High affinity copper uptake protein 1

SLC31A1
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 2LS2, 2LS3, 2LS4
Identifiers
Aliases	SLC31A1 , COPT1, CTR1, solute carrier family 31 member 1
External IDs	OMIM: 603085 MGI: 1333843 HomoloGene: 1399 GeneCards: SLC31A1
Gene location (Human) Chr. Chromosome 9 (human) [1] Band 9q32 Start 113,221,544 bp [1] End 113,264,492 bp [1]
Gene location (Mouse) Chr. Chromosome 4 (mouse) [2] Band 4|4 B3 Start 62,278,964 bp [2] End 62,310,006 bp [2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in parotid gland jejunal mucosa duodenum liver right lobe of liver amniotic fluid nipple bronchial epithelial cell monocyte islet of Langerhans Top expressed in superior cervical ganglion proximal tubule yolk sac left lung lobe jejunum corneal stroma hair follicle lacrimal gland liver duodenum More reference expression data BioGPS More reference expression data
Gene ontology Molecular function copper ion transmembrane transporter activity identical protein binding Cellular component cytoplasm integral component of membrane recycling endosome neuronal cell body late endosome plasma membrane integral component of plasma membrane membrane Biological process cellular response to cisplatin copper ion transport copper ion import ion transport xenobiotic transmembrane transport copper ion transmembrane transport cellular copper ion homeostasis copper ion import across plasma membrane Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 1317 20529 Ensembl ENSG00000136868 ENSMUSG00000066150 UniProt O15431 Q8K211 RefSeq (mRNA) NM_001859 NM_175090 RefSeq (protein) NP_001850 NP_780299 Location (UCSC) Chr 9: 113.22 – 113.26 Mb Chr 4: 62.28 – 62.31 Mb PubMed search [3] [4]
Wikidata
View/Edit Human View/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

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

• Solute carrier family

References

1. GRCh38: Ensembl release 89: ENSG00000136868 - Ensembl, May 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000066150 - Ensembl, 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. "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

• Maruyama K, Sugano S (1994). "Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides". Gene. 138 (1–2): 171–4. doi:10.1016/0378-1119(94)90802-8. PMID   8125298.
• Suzuki Y, Yoshitomo-Nakagawa K, Maruyama K, et al. (1997). "Construction and characterization of a full length-enriched and a 5'-end-enriched cDNA library". Gene. 200 (1–2): 149–56. doi:10.1016/S0378-1119(97)00411-3. PMID   9373149.
• Møller LB, Petersen C, Lund C, Horn N (2001). "Characterization of the hCTR1 gene: genomic organization, functional expression, and identification of a highly homologous processed gene". Gene. 257 (1): 13–22. doi:10.1016/S0378-1119(00)00394-2. PMID   11054564.
• Lee J, Peña MM, Nose Y, Thiele DJ (2002). "Biochemical characterization of the human copper transporter Ctr1". J. Biol. Chem. 277 (6): 4380–7. doi: 10.1074/jbc.M104728200 . PMID   11734551.
• Puig S, Lee J, Lau M, Thiele DJ (2002). "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. doi: 10.1074/jbc.M202547200 . PMID   11983704.
• Klomp AE, Tops BB, Van Denberg IE, et al. (2002). "Biochemical characterization and subcellular localization of human copper transporter 1 (hCTR1)". Biochem. J. 364 (Pt 2): 497–505. doi:10.1042/BJ20011803. PMC   1222595 . PMID   12023893.
• Eisses JF, Kaplan JH (2002). "Molecular characterization of hCTR1, the human copper uptake protein". J. Biol. Chem. 277 (32): 29162–71. doi: 10.1074/jbc.M203652200 . PMID   12034741.
• Lee J, Petris MJ, Thiele DJ (2002). "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. doi: 10.1074/jbc.M208002200 . PMID   12177073.
• Klomp AE, Juijn JA, van der Gun LT, et al. (2003). "The N-terminus of the human copper transporter 1 (hCTR1) is localized extracellularly, and interacts with itself". Biochem. J. 370 (Pt 3): 881–9. doi:10.1042/BJ20021128. PMC   1223224 . PMID   12466020.
• Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "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. Bibcode:2002PNAS...9916899M. doi: 10.1073/pnas.242603899 . PMC   139241 . PMID   12477932.
• Petris MJ, Smith K, Lee J, Thiele DJ (2003). "Copper-stimulated endocytosis and degradation of the human copper transporter, hCtr1". J. Biol. Chem. 278 (11): 9639–46. doi: 10.1074/jbc.M209455200 . PMID   12501239.
• Ota T, Suzuki Y, Nishikawa T, et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs". Nat. Genet. 36 (1): 40–5. doi: 10.1038/ng1285 . PMID   14702039.
• Guo Y, Smith K, Lee J, et al. (2004). "Identification of methionine-rich clusters that regulate copper-stimulated endocytosis of the human Ctr1 copper transporter". J. Biol. Chem. 279 (17): 17428–33. doi: 10.1074/jbc.M401493200 . PMID   14976198.
• Guo Y, Smith K, Petris MJ (2004). "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. doi: 10.1074/jbc.M407777200 . PMID   15326162.
• Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMC   528928 . PMID   15489334.
• Eisses JF, Chi Y, Kaplan JH (2005). "Stable plasma membrane levels of hCTR1 mediate cellular copper uptake". J. Biol. Chem. 280 (10): 9635–9. doi: 10.1074/jbc.M500116200 . PMID   15634665.
• Rual JF, Venkatesan K, Hao T, et al. (2005). "Towards a proteome-scale map of the human protein-protein interaction network". Nature. 437 (7062): 1173–8. Bibcode:2005Natur.437.1173R. doi:10.1038/nature04209. PMID   16189514. S2CID   4427026.
• Hardman B, Manuelpillai U, Wallace EM, et al. (2006). "Expression, localisation and hormone regulation of the human copper transporter hCTR1 in placenta and choriocarcinoma Jeg-3 cells". Placenta. 27 (9–10): 968–77. doi:10.1016/j.placenta.2005.10.011. PMID   16356544.
• Aller SG, Unger VM (2006). "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. Bibcode:2006PNAS..103.3627A. doi: 10.1073/pnas.0509929103 . PMC   1450133 . PMID   16501047.

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