High affinity copper uptake protein 1

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

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; OMA:SLC31A1 - orthologs
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 olfactory zone of nasal mucosa duodenum liver mucosa of paranasal sinus right lobe of liver nasal epithelium cartilage tissue amniotic fluid Top expressed in Ileal epithelium choroid plexus of fourth ventricle Epithelium of choroid plexus right kidney superior cervical ganglion proximal tubule yolk sac epithelium of lens left lung lobe jejunum 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 soma 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
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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

• Solute carrier family