Hs00134448_cn

• Gene Symbol: ATP7A
• Assay Reference Genome Location: Chr.X:78038954 on build GRCh38
• Cytoband: Xq21.1

Target Gene Details

• Entrez Gene ID: 538
• Gene Name: ATPase copper transporting alpha
• Gene Aliases: DSMAX, MK, MNK, SMAX3
• Location: Chr.X:77910656-78050395 on Build GRCh38
• Assay Gene Location: Overlaps Exon 18 - Intron 18

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
ATP7A	NM_000052.6			NP_000043.4
	NM_001282224.1			NP_001269153.1
	NR_104109.1
	AB117973.1			BAC82353.1
	AK299449.1
	BX503903.1
	L06133.1			AAA35580.1

Target Copy Number Variation Details

• DGV Version: Release date: 2016-05-15, GRCh GRCh38

Target Variation	Location	CNV Subtype	Genes
esv2758874	Chr.X:77969413 - 78053575 on Build GRCh38	Loss	ATP7A PGAM4

More Information

• Set Membership: Intragenic, Non-exonic, DGV Variation

Panther Classification:

Molecular Function -

primary active transporter

Gene Ontology Categories:

Process(es)

blood vessel development
in utero embryonic development
blood vessel remodeling
regulation of oxidative phosphorylation
tryptophan metabolic process
catecholamine metabolic process
copper ion transport
cellular copper ion homeostasis
mitochondrion organization
lactation
locomotory behavior
response to iron(III) ion
response to zinc ion
detoxification of copper ion
copper ion import
plasma membrane copper ion transport
peptidyl-lysine modification
removal of superoxide radicals
cerebellar Purkinje cell differentiation
pyramidal neuron development
central nervous system neuron development
extracellular matrix organization
collagen fibril organization
hair follicle morphogenesis
ion transmembrane transport
T-helper cell differentiation
epinephrine metabolic process
norepinephrine metabolic process
dopamine metabolic process
serotonin metabolic process
positive regulation of catalytic activity
negative regulation of catalytic activity
pigmentation
skin development
elastic fiber assembly
lung alveolus development
neuron projection morphogenesis
cartilage development
positive regulation of oxidoreductase activity
elastin biosynthetic process
copper ion export

Function(s)

copper-exporting ATPase activity
copper ion transmembrane transporter activity
copper ion binding
protein binding
ATP binding
superoxide dismutase copper chaperone activity
copper-dependent protein binding