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Gene Ontology Classifications
Symbol
Name
ID
Atp7a
ATPase, copper transporting, alpha polypeptide
MGI:99400

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Automated description from the Alliance of Genome Resources (Release 7.4.0)

Enables P-type divalent copper transporter activity and superoxide dismutase copper chaperone activity. Involved in copper ion export and intracellular copper ion homeostasis. Acts upstream of or within several processes, including catecholamine metabolic process; erythrose 4-phosphate/phosphoenolpyruvate family amino acid metabolic process; and neuron differentiation. 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; nervous system; and spleen. 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).



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Gene Ontology Evidence Code Abbreviations:

Experimental:
EXP
Inferred from experiment
HMP
Inferred from high throughput mutant phenotype
HGI
Inferred from high throughput genetic interaction
HDA
Inferred from high throughput direct assay
HEP
Inferred from high throughput expression pattern
IDA
Inferred from direct assay
IEP
Inferred from expression pattern
IGI
Inferred from genetic interaction
IMP
Inferred from mutant phenotype
IPI
Inferred from physical interaction
Homology:
IAS
Inferred from ancestral sequence
IBA
Inferred from biological aspect of ancestor
IBD
Inferred from biological aspect of descendant
IKR
Inferred from key residues
IMR
Inferred from missing residues
IRD
Inferred from rapid divergence
ISA
Inferred from sequence alignment
ISM
Inferred from sequence model
ISO
Inferred from sequence orthology
ISS
Inferred from sequence or structural similarity
Automated:
IEA
Inferred from electronic annotation
RCA
Reviewed computational analysis
Other:
IC
Inferred by curator
NAS
Non-traceable author statement
ND
No biological data available
TAS
Traceable author statement

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Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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last database update
11/12/2024
MGI 6.24
The Jackson Laboratory