EC Number   |
General Information |
Reference |
|---|
   7.2.2.8 | evolution |
an evolutionarily highly conserved, copper-transporting P-type ATPase in the murine malaria model parasite Plasmodium berghei |
-, 734718 |
| 7.2.2.8 | evolution |
the enzme belongs to the superfamily of P-type ATPases, which are capable of exporting transition metal ions at the expense of ATP hydrolysis. P1BATPases share a conserved structure of three cytoplasmic domains linked by a transmembrane domain. In addition, they possess a unique class of domains located at the N-terminus. P1B-ATPases show general functional divergence of tandem metal-binding domains, which is governed by the length of the inter-domain linker |
734725 |
| 7.2.2.8 | evolution |
the enzyme belongs to the P-type ATPases |
733447 |
| 7.2.2.8 | evolution |
the enzyme belongs to the PIB-ATPase family, phylogenetic analysis and tree |
-, 720396 |
| 7.2.2.8 | malfunction |
a loss-of-function mutant line shows no apparent defect in in vivo blood stage growth. But parasite transmission through the mosquito vector is severely affected, although not entirely abolished. Male and female gametocytes are abundant in cutp? parasites, but activation of male microgametes and exflagellation are strongly impaired. This specific defect can be mimicked by addition of the copper chelator neocuproine to wild-type gametocytes. Female fertility is also severely abrogated. Targeted deletion of CuTP does not affect asexual blood stage growth in mice |
-, 734718 |
| 7.2.2.8 | malfunction |
addition of high Cu2+ concentrations reduce ATP7B incorporation into AP-1-containing clathrin-coated vesicles and cause loss of trans-Golgi network localization and somatodendritic polarity of ATP7B |
734662 |
| 7.2.2.8 | malfunction |
copper deficiency causes Menkes disease in pediatric subjects with a phenotype underlying a X-linked recessive disorder of growth retardation, neurodegeneration, and peculiar hair. Mutations in the gene encoding the enzyme are implicated in at least two other distinctive phenotypes: occipital horn syndrome and ATP7A-related isolated distal motor neuropathy. Disorders caused by impaired ATP7A function and clinical phenotypes associated with disturbed copper metabolism involving hypotonia, seizures, developmental delay, brain atrophy, and coarse, lightly pigmented hair that rubs off easily, jowly facies, lax skin and joints, decreased bone density, bladder diverticula, gastric polyps, venous aneurysms, cardiac defects, vascular tortuousity, and blue irides, overview. The MEDNIK syndrome is caused by mutations in the s1A subunit of adaptor protein complex 1 (AP-1), which leads to detrimental effects on ATP7A trafficking |
733097 |
| 7.2.2.8 | malfunction |
enzyme missense mutations are involved in Menkes disease |
733447 |
| 7.2.2.8 | malfunction |
enzyme missense mutations are involved in Wilson's disease |
733447 |
| 7.2.2.8 | malfunction |
Menkes disease results from loss-of-function mutations in ATP7A |
735317 |
