Genomes and Genes
Gene Symbol: Commd1
Description: copper metabolism domain containing 1
Alias: COMM domain-containing protein 1, copper metabolism (Murr1) domain containing 1
- Bartuzi P, Billadeau D, Favier R, Rong S, Dekker D, Fedoseienko A, et al. CCC- and WASH-mediated endosomal sorting of LDLR is required for normal clearance of circulating LDL. Nat Commun. 2016;7:10961 pubmed publisher..patients with X-linked intellectual disability caused by mutations in CCDC22 are hypercholesterolaemic, and that COMMD1-deficient dogs and liver-specific Commd1 knockout mice have elevated plasma LDL cholesterol levels...
- de Bie P, van De Sluis B, Burstein E, Duran K, Berger R, Duckett C, et al. Characterization of COMMD protein-protein interactions in NF-kappaB signalling. Biochem J. 2006;398:63-71 pubmed..The small ubiquitously expressed COMMD6 consists primarily of the COMM domain. Therefore COMMD1 and COMMD6 were analysed further as prototype members of the COMMD protein family...
- Ke Y, Butt A, Swart M, Liu Y, McDonald F. COMMD1 downregulates the epithelial sodium channel through Nedd4-2. Am J Physiol Renal Physiol. 2010;298:F1445-56 pubmed publisher..Our previous studies demonstrated that Copper Metabolism Murr1 Domain-containing protein 1 (COMMD1; previously known as Murr1), a protein involved in copper metabolism, inhibited amiloride-sensitive current in ..
- Phillips Krawczak C, Singla A, Starokadomskyy P, Deng Z, Osborne D, Li H, et al. COMMD1 is linked to the WASH complex and regulates endosomal trafficking of the copper transporter ATP7A. Mol Biol Cell. 2015;26:91-103 pubmed publisherb>COMMD1 deficiency results in defective copper homeostasis, but the mechanism for this has remained elusive...