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- Table of Contents
Facts about Copper-transporting ATPase 1.
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Human | |
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Gene Name: | ATP7A |
Uniprot: | Q04656 |
Entrez: | 538 |
Belongs to: |
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cation transport ATPase (P-type) (TC 3.A.3) family |
ATPase, Cu++ transporting, alpha polypeptide; Copper pump 1; copper-transporting ATPase 1; Cu++-transporting P-type ATPase; DSMAX; EC 3.6.3; EC 3.6.3.4; MC1; Menkes disease-associated protein; Menkes syndrome; MK; MNKFLJ17790; OHS; SMAX3
Mass (kDA):
163.373 kDA
Human | |
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Location: | Xq21.1 |
Sequence: | X; NC_000023.11 (77910656..78050395) |
Found in most tissues except liver. Isoform 3 is widely expressed including in liver cell lines. Isoform 1 is expressed in fibroblasts, choriocarcinoma, colon carcinoma and neuroblastoma cell lines. Isoform 2 is expressed in fibroblasts, colon carcinoma and neuroblastoma cell lines.
Golgi apparatus, trans-Golgi network membrane; Multi-pass membrane protein. Cell membrane; Multi-pass membrane protein. Cycles constitutively between the trans-Golgi network (TGN) and the plasma membrane (PubMed:9147644). Predominantly found in the TGN and relocalized to the plasma membrane in response to elevated copper levels.; [Isoform 3]: Cytoplasm, cytosol.; [Isoform 5]: Endoplasmic reticulum.
PMID: 8490659 by Vulpe C.D., et al. Isolation of a candidate gene for Menkes disease and evidence that it encodes a copper-transporting ATPase.
PMID: 7607665 by Tuemer Z., et al. Characterization of the exon structure of the Menkes disease gene using vectorette PCR.