gene 959 words KG: ATP7A
Contents

ATP7A

🧬 Gene Info
Gene SymbolATP7A
Full NameCopper-Transport ATPase
ChromosomeXq21.1
Functionis an important component in the neurobiology of neurodegenerative diseases.
Primary Expressionmost tissues except the liver, making it the primary copper transporter for extrahepatic copper metabolism
Molecular Weight163 kDa
Amino Acids1500 aa
UniProt ID[Q9Y5K9](https://www.uniprot.org/uniprot/Q9Y5K9)
Ensembl IDENSG00000136939
OMIM300011
GeneCardsATP7A
Human Protein AtlasATP7A
8 Transmembrane HelicesForm the copper translocation pore
Copper Binding Sites6 N-terminal CXXC motifs for copper binding
Gate RegionRegulates access to the transport channel
Associated Diseasesdevelopmental delay, Menkes disease, neurodegeneration
Interactions, CP, FDX1, P53, VCP
KG Connections50 knowledge graph edges
DatabasesGeneCardsNCBI GeneHPASTRING

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🌐 Cross-references

NCBI GeneUniProtGeneCardsWikipediaHGNCEnsembl

Knowledge Graph (12 edges)

ATP7A expressed_in SOD1
ATP7A expressed_in SP1
ATP7A expressed_in ABCG1
ATP7A expressed_in SLC22A5
ATP7A expressed_in ABCG2
ABCD3 expressed_in ATP7A
ABCA2 expressed_in ATP7A
CP interacts_with ATP7A
ATP7A causes Menkes disease
ATP7A regulates copper

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