ATP7A (ATPase copper transporting alpha)

2007-09-01  

Identity

HGNC
ATP7A
LOCATION
Xq21.1
LOCUSID
538
ALIAS
DSMAX,MK,MNK,SMAX3
FUSION GENES
Show Gene Fusions

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
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

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
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 2
adipose tissue
skin 1
appendix
spleen
lymph node
tonsil
bone marrow

PharmGKB

Entity IDNameTypeEvidenceAssociationPKPDPMIDs
PA164713176Platinum compoundsChemicalPathwayassociated19525887
PA445425Prostatic NeoplasmsDiseaseClinicalAnnotationassociatedPD20038957
PA449383docetaxelChemicalClinicalAnnotationassociatedPD20038957
PA451644thalidomideChemicalClinicalAnnotationassociatedPD20038957

References

Pubmed IDYearTitleCitations
380320542024Regulation of the apico-basolateral trafficking polarity of the homologous copper-ATPases ATP7A and ATP7B.0
381418752024Deep intronic variant causes aberrant splicing of ATP7A in a family with a variable occipital horn syndrome phenotype.1
380320542024Regulation of the apico-basolateral trafficking polarity of the homologous copper-ATPases ATP7A and ATP7B.0
381418752024Deep intronic variant causes aberrant splicing of ATP7A in a family with a variable occipital horn syndrome phenotype.1
366923292023ATP7A-related copper transport disorders: A systematic review and definition of the clinical subtypes.2
372120002023[Clinical and genetic analysis of three children with Menkes disease due to variants of ATP7A gene].0
378850902023Cuproptosis-related molecular patterns and gene (ATP7A) in hepatocellular carcinoma and their relationships with tumor immune microenvironment and clinical features.3
366923292023ATP7A-related copper transport disorders: A systematic review and definition of the clinical subtypes.2
372120002023[Clinical and genetic analysis of three children with Menkes disease due to variants of ATP7A gene].0
378850902023Cuproptosis-related molecular patterns and gene (ATP7A) in hepatocellular carcinoma and their relationships with tumor immune microenvironment and clinical features.3
359071382022Circular RNA circPBX3 promotes cisplatin resistance of ovarian cancer cells via interacting with IGF2BP2 to stabilize ATP7A mRNA expression.0
359071382022Circular RNA circPBX3 promotes cisplatin resistance of ovarian cancer cells via interacting with IGF2BP2 to stabilize ATP7A mRNA expression.0
333591392021The M1311V variant of ATP7A is associated with impaired trafficking and copper homeostasis in models of motor neuron disease.5
335650592021[Pedigree study and analysis of ATP7A gene variants in three children with Menkes disease].0
344611062021At sixes and sevens: cryptic domain in the metal binding chain of the human copper transporter ATP7A.1

Citation

Dessen P

ATP7A (ATPase copper transporting alpha)

Atlas Genet Cytogenet Oncol Haematol. 2007-09-01

Online version: http://atlasgeneticsoncology.org/gene/49743/case-report-explorer/haematological-explorer/js/lib/zoomerang.js