ATPase copper transporting alpha
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Diagnostic Grade (Green)
DDG2P
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesEarly onset or syndromic epilepsy
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesEhlers Danlos syndrome with a likely monogenic cause
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesFetal anomalies
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesHereditary neuropathy
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesHereditary neuropathy or pain disorder
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesIntellectual disability
X-LINKED: hemizygous mutation in males, biallelic mutations in femalesLikely inborn error of metabolism
X-LINKED: hemizygous mutation in males, biallelic mutations in females+12 more panels — install the extension to see the full list inline on any page.
Menkes disease
occipital horn syndrome
X-linked distal spinal muscular atrophy type 3
hereditary disease
distal hereditary motor neuropathy
Hirschsprung disease
Ehlers-Danlos syndrome
Charcot-Marie-Tooth disease
Charcot-Marie-Tooth disease type 2
Au-Kline syndrome
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
Copper-transporting ATPase 1
ATP-driven copper (Cu(+)) ion pump that plays an important role in intracellular copper ion homeostasis (PubMed:10419525, PubMed:11092760, PubMed:28389643). Within a catalytic cycle, acquires Cu(+) ion from donor protein on the cytoplasmic side of the membrane and delivers it to acceptor protein on the lumenal side. The transfer of Cu(+) ion across the membrane is coupled to ATP hydrolysis and is associated with a transient phosphorylation that shifts the pump conformation from inward-facing to outward-facing state (PubMed:10419525, PubMed:19453293, PubMed:19917612, PubMed:28389643, PubMed:31283225). Under physiological conditions, at low cytosolic copper concentration, it is localized at the trans-Golgi network (TGN) where it transfers Cu(+) ions to cuproenzymes of the secretory pathway (PubMed:11092760, PubMed:28389643). Upon elevated cytosolic copper concentrations, it relocalizes to the plasma membrane where it is responsible for the export of excess Cu(+) ions (PubMed:10419525, PubMed:28389643). May play a dual role in neuron function and survival by regulating cooper efflux and neuronal transmission at the synapse as well as by supplying Cu(+) ions to enzymes such as PAM, TYR and SOD3 (By similarity) (PubMed:28389643). In the melanosomes of pigmented cells, provides copper cofactor to TYR to form an active TYR holoenzyme for melanin biosynthesis (By similarity)
ATP7A · Q04656
Mean pLDDT
73.4/ 100
Confident
1,500 residues
Confidence breakdown
AlphaFold (Jumper et al., 2021) · CC BY 4.0
