ATP7A_HUMAN

Source: hRBCD ; ID: IPI00028610
PM19886704
PM23856902
BSc_CH
PM22954596
Marked as 'Integral membrane protein'
Confidence: high (present in two of the MS resources) Search PubMed for
(RBC AND this entry)

Gene names: ATP7A , MC1, MNK
Protein names and data: ATP7A_HUMAN , Copper-transporting ATPase 1; 3.6.3.54 , Copper pump 1; Menkes disease-associated protein Lenght: 1500 a.a.
Mass: 163374 Da
fasta formatted sequence

Function: May supply copper to copper-requiring proteins within the secretory pathway, when localized in the trans-Golgi network. Under conditions of elevated extracellular copper, it relocalized to the plasma membrane where it functions in the efflux of copper from cells.
Catalytic activity: ATP + H(2)O + Cu(+)(Side 1) = ADP + phosphate + Cu(+)(Side 2).
Disease:
Cellular location: Golgi apparatus, trans-Golgi network membrane; Multi-pass membrane protein. Cell membrane; Multi-pass membrane protein. Note=Cycles constitutively between the trans- Golgi network (TGN) and the plasma membrane. Predominantly found in the TGN and relocalized to the plasma membrane in response to elevated copper levels. Isoform 3: Cytoplasm, cytosol (Probable). Isoform 5: Endoplasmic reticulum.
Tissue specificity: 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.

Genetic variants

Database cross-references

UniProt: Q04656
Ensembl: ENST00000341514
Ensembl: ENST00000343533
Ensembl: ENST00000350425
MIM: 300011
MIM: 300489
MIM: 304150
MIM: 309400
neXtProt: NX_Q04656
Antibodypedia: Q04656 (may not find the protein thus also not any antibody)
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