| Gene Symbol | ATP7A |
|---|---|
| Entrez Gene | 538 |
| Alt Symbol | DSMAX, MK, MNK, SMAX3 |
| Species | Human |
| Gene Type | protein-coding |
| Description | ATPase, Cu++ transporting, alpha polypeptide |
| Other Description | Cu++-transporting P-type ATPase|Menkes disease-associated protein|copper pump 1|copper-transporting ATPase 1 |
| Swissprots | O00227 Q9BYY8 B1AT72 O00745 Q04656 |
| Accessions | AAA96010 AAG47452 CAB08160 CAB08162 CAB94714 CBL93959 EAW98605 EAW98606 Q04656 AB117973 BAC82353 AB208828 BAD92065 AK096667 AK299449 BAG61422 BC156437 AAI56438 BP364137 BU753163 BX503903 CD299174 DB164588 L06133 AAA35580 L06476 AAA16974 NM_000052 NP_000043 NM_001282224 NP_001269153 NR_104109 |
| 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. |
| Subcellular Location | 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. |
| Top Pathways | Mineral absorption |