ATP7B (ATPase copper transporting beta)

2007-02-01  

Identity

HGNC
ATP7B
LOCATION
13q14.3
LOCUSID
540
ALIAS
PWD,WC1,WD,WND

Other Information

Locus ID:

NCBI: 540
MIM: 606882
HGNC: 870
Ensembl: ENSG00000123191

Variants:

dbSNP: 540
ClinVar: 540
TCGA: ENSG00000123191
COSMIC: ATP7B

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000123191ENST00000242839P35670
ENSG00000123191ENST00000242839A0A024RDX3
ENSG00000123191ENST00000344297P35670
ENSG00000123191ENST00000400366P35670
ENSG00000123191ENST00000400370F5H562
ENSG00000123191ENST00000418097F5H748
ENSG00000123191ENST00000448424E7ET55
ENSG00000123191ENST00000634296A0A0U1RRG1
ENSG00000123191ENST00000634308A0A0U1RQY8
ENSG00000123191ENST00000634844B7ZLR4

Expression (GTEx)

0
5
10
15
20
25
30
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
Transmembrane transport of small moleculesREACTOMER-HSA-382551
Ion channel transportREACTOMER-HSA-983712
Ion transport by P-type ATPasesREACTOMER-HSA-936837
Platinum drug resistanceKEGGko01524
Platinum drug resistanceKEGGhsa01524

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 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

PharmGKB

Entity IDNameTypeEvidenceAssociationPKPDPMIDs
PA150481189taxanesChemicalClinicalAnnotationassociatedPD26194361
PA164713176Platinum compoundsChemicalClinicalAnnotation, PathwayassociatedPD19525887, 24852429
PA444818Lung NeoplasmsDiseaseClinicalAnnotationassociatedPD24852429
PA445204Ovarian NeoplasmsDiseaseClinicalAnnotationassociatedPD26194361
PA448803carboplatinChemicalClinicalAnnotationassociatedPD26194361
PA449212daunorubicinChemicalMultilinkAnnotationassociated25119182

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
235187152013A genetic study of Wilson's disease in the United Kingdom.60
165716642006Structure of human Wilson protein domains 5 and 6 and their interplay with domain 4 and the copper chaperone HAH1 in copper uptake.48
202019262010Human variation in alcohol response is influenced by variation in neuronal signaling genes.45
179195022007Distinct Wilson's disease mutations in ATP7B are associated with enhanced binding to COMMD1 and reduced stability of ATP7B.44
164726022006ATP7B mediates vesicular sequestration of copper: insight into biliary copper excretion.43
120290942002Metallochaperone Atox1 transfers copper to the NH2-terminal domain of the Wilson's disease protein and regulates its catalytic activity.41
222404812012Diverse functional properties of Wilson disease ATP7B variants.40
172297312007Cu(I) binding and transfer by the N terminus of the Wilson disease protein.39

Citation

Dessen P

ATP7B (ATPase copper transporting beta)

Atlas Genet Cytogenet Oncol Haematol. 2007-02-01

Online version: http://atlasgeneticsoncology.org/gene/45871/atp7b-(atpase-copper-transporting-beta)