Enables copper ion transmembrane transporter activity. Involved in copper ion transport. Located in vacuolar membrane. Is expressed in hypodermis; intestine; neurons; and pharynx. Used to study Menkes disease. Human ortholog(s) of this gene implicated in Menkes disease; Wilson disease; X-linked distal spinal muscular atrophy 3; cutis laxa; and occipital horn syndrome. Orthologous to several human genes including ATP7A (ATPase copper transporting alpha).
WB Description
cua-1 encodes a copper-transporting E1-E2 ATPase orthologous to the human gene ATP7A (OMIM:604384), which when mutated leads to Hailey-Hailey disease; loss of cua-1 activity via RNAi results in a number of defects, including slow growth, uncoordinated or no locomotion, adult and larval lethality, and axon guidance abnormalities; when overexpressed in S. cerevisiae ccc2 mutants, a cua-1 cDNA is able to complement observed defects suggesting that, in vivo, CUA-1 functions as a copper transporter; in C. elegans, a cua-1::GFP promoter fusion is strongly expressed in the adult intestine, with particularly strong expression in the anterior intestine, and highly expressed in the hypodermal cells of the head and body regions in the L1 larval stage; in addition, the cua-1::GFP fusion is also expressed in muscles in the pharyngeal terminal bulb; cua-1::GFP expression is not seen in the intestine of dauer larvae.