Gene table of ATP7A : ATPase copper transporting alpha

Gene-disease associations table

Disease IDDisease nameSource of annotation with ATP7AOMIM linkNumber of associated genesgenes
300489SPINAL MUSCULAR ATROPHY, DISTAL, X-LINKED 3ClinVar, OMIM, HUMSAVAR link to OMIM 1ATP7A
309400MENKES DISEASEClinVar, OMIM, HUMSAVAR link to OMIM 1ATP7A
304150OCCIPITAL HORN SYNDROMEClinVar, OMIM, HUMSAVAR link to OMIM 1ATP7A

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Annotation of the gene ATP7A

Associated genes in ENSEMBL
Associated proteins - SwissProt Accession ID
Associated PDB IDs
Cytogenetic Band
Tandem repeats annotation
Transcription regulation as annotated in TRRUST
Associated KEGG pathways
KEGG pathwayKEGG IDKEGG IC
Mineral absorptionhsa049787.09
Associated REACTOME pathways
REACTOME pathwayREACTOME IDREACTOME IC
Ion channel transportR-HSA-9837125.34
Detoxification of Reactive Oxygen SpeciesR-HSA-32996858.23
Cellular responses to stressR-HSA-22627524.56
Transmembrane transport of small moleculesR-HSA-3825513.79
Ion transport by P-type ATPasesR-HSA-9368377.46
Associated GO terms for Molecular function
GO termGO IDGO IC
purine ribonucleoside triphosphate bindingGO:00356392.22
metal ion bindingGO:00468721.41
bindingGO:00054880.18
ATPase activityGO:00168873.65
ion bindingGO:00431671.36
heterocyclic compound bindingGO:19013631.06
purine nucleoside bindingGO:00018832.22
nucleoside bindingGO:00018822.21
cation bindingGO:00431691.4
ATPase activity, coupled to transmembrane movement of substancesGO:00426265.06
hydrolase activity, acting on acid anhydrides, catalyzing transmembrane movement of substancesGO:00168205.03
transition metal ion bindingGO:00469142.48
transition metal ion transmembrane transporter activityGO:00469156.05
active ion transmembrane transporter activityGO:00228535.06
molecular function regulatorGO:00987722.51
nucleotide bindingGO:00001661.96
primary active transmembrane transporter activityGO:00153994.98
nucleoside phosphate bindingGO:19012651.96
ribonucleoside bindingGO:00325492.22
copper chaperone activityGO:00165318.13
metallochaperone activityGO:00165307.95
copper ion transmembrane transporter activityGO:00053757.95
copper ion bindingGO:00055075.71
ATP bindingGO:00055242.43
hydrolase activityGO:00167871.9
copper-exporting ATPase activityGO:00040089.05
copper-dependent protein bindingGO:00327678.64
ATPase coupled ion transmembrane transporter activityGO:00426255.46
transporter activityGO:00052152.57
enzyme regulator activityGO:00302342.85
cation transmembrane transporter activityGO:00083243.32
nucleoside-triphosphatase activityGO:00171113.09
copper-transporting ATPase activityGO:00436829.05
small molecule bindingGO:00360941.89
catalytic activityGO:00038241.05
substrate-specific transporter activityGO:00228922.72
purine nucleotide bindingGO:00170762.19
metal ion transmembrane transporter activityGO:00468733.71
substrate-specific transmembrane transporter activityGO:00228912.9
inorganic cation transmembrane transporter activityGO:00228903.49
hydrolase activity, acting on acid anhydrides, in phosphorus-containing anhydridesGO:00168183.03
superoxide dismutase copper chaperone activityGO:00165328.64
adenyl nucleotide bindingGO:00305542.4
carbohydrate derivative bindingGO:00973672.03
organic cyclic compound bindingGO:00971591.05
ATPase activity, coupled to movement of substancesGO:00434924.93
ATPase activity, coupledGO:00426233.97
hydrolase activity, acting on acid anhydridesGO:00168173.03
cation-transporting ATPase activityGO:00198295.64
ion transmembrane transporter activityGO:00150753.04
pyrophosphatase activityGO:00164623.04
transmembrane transporter activityGO:00228572.82
purine ribonucleoside bindingGO:00325502.22
adenyl ribonucleotide bindingGO:00325592.41
active transmembrane transporter activityGO:00228043.85
protein bindingGO:00055150.46
purine ribonucleotide bindingGO:00325552.2
ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanismGO:00156626.24
P-P-bond-hydrolysis-driven transmembrane transporter activityGO:00154054.98
ribonucleotide bindingGO:00325532.19
enzyme activator activityGO:00080473.56