ATP7B (ATPase copper transporting beta)

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Gene: ATP7B (ATPase copper transporting beta) Homo sapiens

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Symbol:

ATP7B

Name:

ATPase copper transporting beta

RGD ID:

731392

HGNC Page

HGNC:870

Description:

Enables ATP binding activity; P-type divalent copper transporter activity; and copper ion binding activity. Involved in copper ion import; response to copper ion; and sequestering of calcium ion. Located in several cellular components, including basolateral plasma membrane; late endosome; and trans-Golgi network membrane. Implicated in Wilson disease. Biomarker of breast carcinoma.

Type:

protein-coding

RefSeq Status:

REVIEWED

Previously known as:

ATPase, Cu(2+)- transporting, beta polypeptide; ATPase, Cu++ transporting, beta polypeptide; copper pump 2; copper-transporting ATPase 2; copper-transporting protein ATP7B; PWD; WC1; WD; Wilson disease-associated protein; WND

RGD Orthologs

Alliance Orthologs

More Info

more info ...

Related Pseudogenes:

ATP7BP1

Allele / Splice:

See ClinVar data

Latest Assembly:

GRCh38 - Human Genome Assembly GRCh38

Position:

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	13	51,932,669 - 52,012,132 (-)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	13	51,930,436 - 52,012,125 (-)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	13	52,506,805 - 52,586,268 (-)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	13	51,404,806 - 51,483,631 (-)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	13	51,404,805 - 51,483,631	NCBI
Celera	13	33,555,444 - 33,634,269 (-)	NCBI		Celera
Cytogenetic Map	13	q14.3	NCBI
HuRef	13	33,295,317 - 33,374,147 (-)	NCBI		HuRef
CHM1_1	13	52,473,433 - 52,553,190 (-)	NCBI		CHM1_1
T2T-CHM13v2.0	13	51,147,339 - 51,226,948 (-)	NCBI		T2T-CHM13v2.0

JBrowse:

View Region in Genome Browser (JBrowse)

Model

Annotation Click to see Annotation Detail View

Disease Annotations Click to see Annotation Detail View

Acute Liver Failure (EXP)

Anhaptoglobinemia (IAGP)

Animal Disease Models (EXP)

breast carcinoma (IEP)

Breast Neoplasms (EXP)

carcinoma (EXP)

chromosome 13q14 deletion syndrome (IAGP)

Colorectal Neoplasms (EXP)

congenital disorder of glycosylation (IAGP)

congenital disorder of glycosylation Ip (IAGP)

Disease Progression (EXP)

Dyslipidemias (EXP)

Endometrioid Carcinomas (IEP)

essential tremor 1 (IAGP)

Experimental Liver Neoplasms (EXP)

Generalized Epilepsy (IAGP)

genetic disease (IAGP)

head and neck squamous cell carcinoma (EXP)

hepatitis (EXP)

Inflammation (EXP)

intellectual disability (IAGP)

Kidney Neoplasms (EXP)

liver carcinoma (ISO)

liver cirrhosis (EXP)

liver disease (EXP)

Liver Neoplasms (EXP,ISO)

Mental Retardation Wolff Type (IAGP)

Mouth Neoplasms (EXP)

Ovarian Neoplasms (EXP,IEP)

Prostatic Neoplasms (EXP)

renal adenoma (ISO)

spastic ataxia (IAGP)

steatotic liver disease (EXP)

Wilson disease (EXP,IAGP,IDA,ISO,ISS)

Gene-Chemical Interaction Annotations Click to see Annotation Detail View

(+)-schisandrin B (ISO)

(-)-epigallocatechin 3-gallate (EXP)

1,1'-azobis(N,N-dimethylformamide) (EXP)

17beta-estradiol (EXP,ISO)

17beta-hydroxy-17-methylestra-4,9,11-trien-3-one (EXP)

2,3,7,8-tetrachlorodibenzodioxine (EXP,ISO)

2,3,7,8-Tetrachlorodibenzofuran (ISO)

2,6-dinitrotoluene (ISO)

4,4'-diaminodiphenylmethane (ISO)

4,4'-sulfonyldiphenol (EXP)

5-fluorouracil (EXP)

6-propyl-2-thiouracil (ISO)

acetamide (ISO)

acrylamide (EXP,ISO)

aflatoxin B1 (EXP)

Aflatoxin B2 alpha (EXP)

all-trans-retinoic acid (EXP)

ammonium chloride (EXP,ISO)

antirheumatic drug (EXP)

aristolochic acid A (EXP)

ATP (EXP)

atrazine (ISO)

bathocuproine disulfonic acid (EXP)

benzo[a]pyrene (EXP,ISO)

benzo[e]pyrene (EXP)

beta-hexachlorocyclohexane (ISO)

beta-naphthoflavone (EXP)

bisphenol A (EXP,ISO)

brefeldin A (EXP)

buta-1,3-diene (ISO)

cadmium atom (EXP)

cadmium dichloride (ISO)

carboplatin (EXP)

chloroprene (ISO)

chlorpyrifos (ISO)

cholesterol (ISO)

cisplatin (EXP,ISO)

copper atom (EXP,ISO)

copper(0) (EXP,ISO)

copper(II) chloride (EXP,ISO)

copper(II) sulfate (EXP)

CU-O LINKAGE (EXP)

cyclosporin A (EXP)

cytarabine (EXP)

D-penicillamine (EXP,ISO)

decabromodiphenyl ether (ISO)

dichlorine (ISO)

dimethylarsinic acid (ISO)

dioxygen (ISO)

dorsomorphin (EXP)

doxorubicin (EXP)

endosulfan (ISO)

epoxiconazole (ISO)

ferroheme b (EXP)

folic acid (EXP)

FR900359 (EXP)

genistein (ISO)

glutathione (EXP)

glycidol (ISO)

glycine betaine (ISO)

GW 4064 (ISO)

heme b (EXP)

hydrogen peroxide (EXP)

inulin (ISO)

iron atom (ISO)

iron(0) (ISO)

lead(0) (EXP)

luteolin (ISO)

magnesium atom (EXP)

malonaldehyde (ISO)

manganese atom (EXP,ISO)

manganese(0) (EXP,ISO)

manganese(II) chloride (ISO)

menadione (EXP)

methapyrilene (EXP)

methoxychlor (ISO)

methylarsonic acid (ISO)

methylmercury chloride (EXP)

monosodium L-glutamate (ISO)

N-benzyloxycarbonyl-L-leucyl-L-leucyl-L-leucinal (EXP)

N-nitrosodiethylamine (ISO)

nickel atom (EXP)

nitrofen (ISO)

nocodazole (EXP)

oxaliplatin (EXP)

ozone (EXP,ISO)

paracetamol (EXP,ISO)

paraquat (EXP)

pentachlorophenol (ISO)

perfluorooctane-1-sulfonic acid (ISO)

phenylmercury acetate (EXP)

phorbol 13-acetate 12-myristate (EXP)

platinum (ISO)

platinum(0) (ISO)

potassium chromate (EXP)

progesterone (EXP)

protoporphyrin (EXP)

quercetin (EXP,ISO)

S-adenosyl-L-homocysteine (ISO)

S-adenosyl-L-methioninate (ISO)

S-adenosyl-L-methionine (ISO)

satraplatin (ISO)

SB 431542 (EXP)

sodium arsenate (ISO)

sodium arsenite (EXP,ISO)

streptozocin (ISO)

tetrachloromethane (ISO)

tetrathiomolybdate(2-) (EXP,ISO)

thioacetamide (ISO)

titanium dioxide (ISO)

trichloroethene (ISO)

triclosan (EXP)

tunicamycin (ISO)

valproic acid (EXP)

vinclozolin (ISO)

zinc acetate (ISO)

zinc atom (ISO)

zinc dichloride (EXP)

zinc sulfate (EXP)

zinc(0) (ISO)

zoledronic acid (EXP)

Gene Ontology Annotations Click to see Annotation Detail View

Biological Process

cellular response to copper ion (ISO)

cellular response to manganese ion (ISO)

circadian rhythm (ISO)

copper ion export (IBA,ISO)

copper ion import (IBA,IDA)

copper ion transmembrane transport (IEA)

copper ion transport (IDA,IEA,IGI,IMP,ISO)

establishment of localization in cell (IEA,ISO)

inorganic cation transmembrane transport (IEA)

intracellular copper ion homeostasis (IBA,IEA,ISO,TAS)

intracellular zinc ion homeostasis (IEA,ISO)

lactation (IEA,ISO)

metal ion transport (IEA)

monoatomic cation transmembrane transport (IEA)

monoatomic cation transport (IEA)

monoatomic ion transmembrane transport (TAS)

protein maturation by copper ion transfer (IEA,ISO)

response to cAMP (ISO)

response to copper ion (IDA,ISO)

response to prolactin (ISO)

response to zinc ion (ISO)

sequestering of calcium ion (IDA)

viral translational frameshifting (IEA)

xenobiotic detoxification by transmembrane export across the plasma membrane (IC)

Cellular Component

apical part of cell (ISO)

basolateral plasma membrane (IDA,ISO)

bicellular tight junction (ISO)

cytoplasm (IEA)

cytoplasmic vesicle (IDA)

endosome (IEA)

Golgi apparatus (IDA,IEA)

Golgi membrane (IEA,TAS)

late endosome (IDA,IEA,ISO)

membrane (HDA,IEA)

mitochondrion (HTP,IEA)

perinuclear region of cytoplasm (IDA,ISO)

plasma membrane (IBA,TAS)

tight junction (ISO)

trans-Golgi network (IDA,IEA,ISO)

trans-Golgi network membrane (IDA)

Molecular Function

ATP binding (IDA,IEA)

ATP hydrolysis activity (IEA)

ATPase-coupled monoatomic cation transmembrane transporter activity (IEA)

copper ion binding (IBA,IDA,IEA,ISO)

copper ion transmembrane transporter activity (IDA,ISO)

hydrolase activity (IEA)

metal ion binding (IEA)

nucleotide binding (IEA)

P-type divalent copper transporter activity (IBA,IEA,IMP,NAS,TAS)

P-type monovalent copper transporter activity (IEA)

protein binding (IPI)

zinc ion binding (ISO)

Molecular Pathway Annotations

Gene Annotator (Functional Annotation) unavailable	Gene Annotator (Annotation Distribution) unavailable	Variant Visualizer (Genomic Variants) unavailble Variant Visualizer (Genomic Variants) unavailable
Gene Annotator (Functional Annotation)	Gene Annotator (Annotation Distribution)	Variant Visualizer (Genomic Variants)

InterViewer (Protein-Protein Interactions) unavailable	Gviewer (Genome Viewer) unavailable	Variant Visualizer (Damaging Variants) unavailble Variant Visualizer (Damaging Variants) unavailable
InterViewer (Protein-Protein Interactions)	GViewer (Genome Viewer)	Variant Visualizer (Damaging Variants)

Gene Annotator (Annotation Comparison) unavailable	OLGA (Gene List Generator) unavailable
Gene Annotator (Annotation Comparison)	OLGA (Gene List Generator)	Excel (Download)

MOET (Multi-Ontology Enrichement) unavailable	GOLF (Gene-Ortholog Location Finder) unavailable
MOET (Multi-Ontology Enrichement)	GOLF (Gene-Ortholog Location Finder)

Imported Disease Annotations - ClinVar

Imported Disease Annotations - CTD

Imported Disease Annotations - MGI

Imported Disease Annotations - OMIM

RGD Manual Annotations

Imported Human Phenotype Annotations - HPO

Imported Human Phenotype Annotations - ClinVar

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