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Atp7a - ATPase, Cu++ transporting, alpha polypeptide Gene

Also Known as MNK

Species: Mus musculus

Gene Type: protein coding

Gene ID: 11977

Summary

Enables P-type divalent copper transporter activity and superoxide dismutase copper chaperone activity. Acts upstream of or within several processes, including animal organ development; cellular biogenic amine metabolic process; and copper ion transport. Located in several cellular components, including cytoplasmic vesicle membrane; neuronal cell body; and trans-Golgi network membrane. Is expressed in several structures, including genitourinary system; gut mucosa; liver; spleen; and thoracic ganglion. Used to study Menkes disease; X-linked distal spinal muscular atrophy 3; aortic aneurysm; and osteoarthritis. Human ortholog(s) of this gene implicated in Menkes disease; X-linked distal spinal muscular atrophy 3; cutis laxa; and occipital horn syndrome. Orthologous to human ATP7A (ATPase copper transporting alpha). [provided by Alliance of Genome Resources, Apr 2022]

Atp7a Products (2)

mRNA	Protein	Name
NM_001109757.2	NP_001103227.1	copper-transporting ATPase 1 isoform 1
NM_009726.5	NP_033856.3	copper-transporting ATPase 1 isoform 2

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables P-type divalent copper transporter activity	IDA IDA: Inferred from direct assay	15634671	MGI
enables copper ion transmembrane transporter activity	IMP IMP: Inferred from mutant phenotype	10332039	MGI
enables protein binding	IPI IPI: Inferred from physical interaction	16371425	MGI
enables superoxide dismutase copper chaperone activity	IDA IDA: Inferred from direct assay	16371425	MGI

Biological Process GO Annotation	Evidence	References	Source
acts upstream of or within ATP metabolic process	IMP IMP: Inferred from mutant phenotype	11311799	MGI
acts upstream of or within T-helper cell differentiation	IMP IMP: Inferred from mutant phenotype	8434133	MGI
acts upstream of or within blood vessel development	IMP IMP: Inferred from mutant phenotype	1115218	MGI
acts upstream of or within blood vessel remodeling	IMP IMP: Inferred from mutant phenotype	16338116	MGI
acts upstream of or within cartilage development	IMP IMP: Inferred from mutant phenotype	8895222	MGI
acts upstream of catecholamine metabolic process	IMP IMP: Inferred from mutant phenotype	17511	MGI
acts upstream of or within catecholamine metabolic process	IMP IMP: Inferred from mutant phenotype	17511	MGI
acts upstream of or within central nervous system neuron development	IMP IMP: Inferred from mutant phenotype	8174230	MGI
acts upstream of or within cerebellar Purkinje cell differentiation	IMP IMP: Inferred from mutant phenotype	2473662	MGI
acts upstream of or within collagen fibril organization	IMP IMP: Inferred from mutant phenotype	20889	MGI
acts upstream of or within copper ion export	IMP IMP: Inferred from mutant phenotype	6542992	MGI
involved in copper ion export	IMP IMP: Inferred from mutant phenotype	15634787	MGI
acts upstream of or within copper ion import	IMP IMP: Inferred from mutant phenotype	573617	MGI
acts upstream of or within copper ion transport	IDA IDA: Inferred from direct assay	15634671	MGI
acts upstream of or within copper ion transport	IMP IMP: Inferred from mutant phenotype	11391006	MGI
acts upstream of or within dendrite morphogenesis	IMP IMP: Inferred from mutant phenotype	2473662	MGI
acts upstream of or within detoxification of copper ion	IMP IMP: Inferred from mutant phenotype	7509170	MGI
acts upstream of or within dopamine metabolic process	IMP IMP: Inferred from mutant phenotype	1752214	MGI
acts upstream of or within elastic fiber assembly	IMP IMP: Inferred from mutant phenotype	20889	MGI
acts upstream of or within elastin biosynthetic process	IMP IMP: Inferred from mutant phenotype	8096378	MGI
acts upstream of or within epinephrine metabolic process	IMP IMP: Inferred from mutant phenotype	1752214	MGI
acts upstream of or within establishment of localization in cell	IMP IMP: Inferred from mutant phenotype	6542992	MGI
acts upstream of or within extracellular matrix organization	IMP IMP: Inferred from mutant phenotype	1115218	MGI
acts upstream of or within hair follicle morphogenesis	IMP IMP: Inferred from mutant phenotype	2473662	MGI
acts upstream of or within intracellular copper ion homeostasis	IGI IGI: Inferred from genetic interaction	8640230	MGI
acts upstream of or within intracellular copper ion homeostasis	IMP IMP: Inferred from mutant phenotype	27591	MGI
involved in intracellular copper ion homeostasis	IMP IMP: Inferred from mutant phenotype	25639447	MGI
acts upstream of or within locomotory behavior	IMP IMP: Inferred from mutant phenotype	1752214	MGI
acts upstream of or within lung alveolus development	IMP IMP: Inferred from mutant phenotype	937819	MGI
acts upstream of or within mitochondrion organization	IMP IMP: Inferred from mutant phenotype	2288383	MGI
acts upstream of or within negative regulation of catecholamine metabolic process	IMP IMP: Inferred from mutant phenotype	17511	MGI
acts upstream of or within negative regulation of neuron apoptotic process	IMP IMP: Inferred from mutant phenotype	17003121	MGI
acts upstream of neuron apoptotic process	IMP IMP: Inferred from mutant phenotype	17003121	MGI
acts upstream of or within neuron cellular homeostasis	IMP IMP: Inferred from mutant phenotype	9686356	MGI
acts upstream of or within neuron projection morphogenesis	IMP IMP: Inferred from mutant phenotype	8174230	MGI
acts upstream of or within norepinephrine biosynthetic process	IMP IMP: Inferred from mutant phenotype	4405722	MGI
acts upstream of or within norepinephrine metabolic process	IMP IMP: Inferred from mutant phenotype	4147174	MGI
acts upstream of or within peptidyl-lysine modification	IMP IMP: Inferred from mutant phenotype	4808708	MGI
acts upstream of or within pigmentation	IMP IMP: Inferred from mutant phenotype	1752214	MGI
acts upstream of or within positive regulation of catalytic activity	IMP IMP: Inferred from mutant phenotype	14140	MGI
acts upstream of or within positive regulation of cytochrome-c oxidase activity	IMP IMP: Inferred from mutant phenotype	17511	MGI
acts upstream of or within positive regulation of superoxide dismutase activity	IMP IMP: Inferred from mutant phenotype	17511	MGI
acts upstream of or within pyramidal neuron development	IMP IMP: Inferred from mutant phenotype	2473662	MGI
acts upstream of or within regulation of gene expression	IMP IMP: Inferred from mutant phenotype	11311799	MGI
acts upstream of or within regulation of oxidative phosphorylation	IMP IMP: Inferred from mutant phenotype	8550574	MGI
acts upstream of or within release of cytochrome c from mitochondria	IMP IMP: Inferred from mutant phenotype	11311799	MGI
acts upstream of or within removal of superoxide radicals	IMP IMP: Inferred from mutant phenotype	16371425	MGI
acts upstream of or within serotonin metabolic process	IMP IMP: Inferred from mutant phenotype	8174230	MGI
acts upstream of or within skin development	IMP IMP: Inferred from mutant phenotype	4808708	MGI
acts upstream of or within tryptophan metabolic process	IMP IMP: Inferred from mutant phenotype	4147174	MGI
acts upstream of or within tyrosine metabolic process	IMP IMP: Inferred from mutant phenotype	4147174	MGI

Cellular Component GO Annotation	Evidence	References	Source
located in Golgi apparatus	IDA IDA: Inferred from direct assay	15634787	MGI
located in cytoplasmic vesicle	IDA IDA: Inferred from direct assay	15634787	MGI
located in early endosome membrane	IDA IDA: Inferred from direct assay	27337370	MGI
located in melanosome membrane	IDA IDA: Inferred from direct assay	18650808	MGI
located in membrane	IDA IDA: Inferred from direct assay	9215672	MGI
located in neuron projection	IDA IDA: Inferred from direct assay	15634787	MGI
located in neuronal cell body	IDA IDA: Inferred from direct assay	15634671	MGI
located in plasma membrane	IDA IDA: Inferred from direct assay	10332039	MGI
located in trans-Golgi network	IDA IDA: Inferred from direct assay	10332039	MGI
located in trans-Golgi network membrane	IDA IDA: Inferred from direct assay	18650808	MGI

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

Protein Preferred Names	Protein Names
copper-transporting ATPase 1	Menkes protein copper pump 1 menkes disease-associated protein homolog

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (5)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS01235	ATP7A Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS17972	Atp7a Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-D3282	CCF1		/	Unkown
HY-RS17601	Atp7b Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS24443	Atp7a Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Homo sapiens	Atp7a	NCBI	NCBI:538