ATP7A (ATPase copper transporting alpha)

2007-09-01  

Identity

HGNC
LOCATION
Xq21.1
LOCUSID
ALIAS
DSMAX,MK,MNK,SMAX3
FUSION GENES

Other Information

Locus ID:

NCBI: 538
MIM: 300011
HGNC: 869
Ensembl: ENSG00000165240

Variants:

dbSNP: 538
ClinVar: 538
TCGA: ENSG00000165240
COSMIC: ATP7A

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000165240ENST00000341514Q04656
ENSG00000165240ENST00000343533Q04656
ENSG00000165240ENST00000642651A0A2R8YD60
ENSG00000165240ENST00000645094A0A2R8YD60
ENSG00000165240ENST00000645454A0A2R8YD60

Expression (GTEx)

0
5
10
15

Pathways

PathwaySourceExternal ID
Mineral absorptionKEGGko04978
Mineral absorptionKEGGhsa04978
Immune SystemREACTOMER-HSA-168256
Innate Immune SystemREACTOMER-HSA-168249
Transmembrane transport of small moleculesREACTOMER-HSA-382551
Ion channel transportREACTOMER-HSA-983712
Ion transport by P-type ATPasesREACTOMER-HSA-936837
Cellular responses to stressREACTOMER-HSA-2262752
Detoxification of Reactive Oxygen SpeciesREACTOMER-HSA-3299685
Platinum drug resistanceKEGGko01524
Platinum drug resistanceKEGGhsa01524
Antimicrobial peptidesREACTOMER-HSA-6803157
Ion influx/efflux at host-pathogen interfaceREACTOMER-HSA-6803544

Protein levels (Protein atlas)

Not detected
Low
Medium
High

PharmGKB

Entity IDNameTypeEvidenceAssociationPKPDPMIDs
PA164713176Platinum compoundsChemicalPathwayassociated19525887
PA445425Prostatic NeoplasmsDiseaseClinicalAnnotationassociatedPD20038957
PA449383docetaxelChemicalClinicalAnnotationassociatedPD20038957
PA451644thalidomideChemicalClinicalAnnotationassociatedPD20038957

References

Pubmed IDYearTitleCitations
175311892007Trafficking of the copper-ATPases, ATP7A and ATP7B: role in copper homeostasis.85
177170392007Molecular pathogenesis of Wilson and Menkes disease: correlation of mutations with molecular defects and disease phenotypes.80
201709002010Missense mutations in the copper transporter gene ATP7A cause X-linked distal hereditary motor neuropathy.63
253559472015COMMD1 is linked to the WASH complex and regulates endosomal trafficking of the copper transporter ATP7A.52
171582542007Dynamics of endogenous ATP7A (Menkes protein) in intestinal epithelial cells: copper-dependent redistribution between two intracellular sites.42
175623242007Biochemical basis of regulation of human copper-transporting ATPases.38
232811602013An overview and update of ATP7A mutations leading to Menkes disease and occipital horn syndrome.33
206712352010Unexpected role of the copper transporter ATP7A in PDGF-induced vascular smooth muscle cell migration.32
125399602002Copper transporting P-type ATPases and human disease.30
163171172005Copper exposure induces trafficking of the menkes protein in intestinal epithelium of ATP7A transgenic mice.29

Citation

Dessen P

ATP7A (ATPase copper transporting alpha)

Atlas Genet Cytogenet Oncol Haematol. 2007-09-01

Online version: http://atlasgeneticsoncology.org/gene/49743/atp7a