ATP7B - ATPase copper transporting beta Gene

Also Known as WD; PWD; WC1; WND

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 540

About ATP7B

Cytogenetic location: 13q14.3 Genomic coordinates (GRCh38): 13:51,932,669-52,012,132 (from NCBI)

This gene has 26 transcripts (splice variants), 221 orthologues, 21 paralogues and is associated with 2 phenotypes. Broad expression in testis (RPKM 5.6), duodenum (RPKM 4.2) and 22 other tissues.

Summary

This gene is a member of the P-type cation transport ATPase family and encodes a protein with several membrane-spanning domains, an ATPase consensus sequence, a hinge domain, a phosphorylation site, and at least 2 putative copper-binding sites. This protein is a monomer, and functions as a copper-transporting ATPase which exports copper out of the cells, such as the efflux of hepatic copper into the bile. Alternate transcriptional splice variants, encoding different isoforms with distinct cellular localizations, have been characterized. Mutations in this gene have been associated with Wilson disease which is characterized by copper accumulation. [provided by RefSeq, Dec 2019]

ATP7B Products (41)

mRNA Protein Name
NM_000053.4 NP_000044.2 copper-transporting ATPase 2 isoform a
NM_001005918.3 NP_001005918.1 copper-transporting ATPase 2 isoform b
NM_001243182.2 NP_001230111.1 copper-transporting ATPase 2 isoform c
NM_001330578.2 NP_001317507.1 copper-transporting ATPase 2 isoform d
NM_001330579.2 NP_001317508.1 copper-transporting ATPase 2 isoform e
NM_001406511.1 NP_001393440.1 copper-transporting ATPase 2 isoform a
NM_001406512.1 NP_001393441.1 copper-transporting ATPase 2 isoform a
NM_001406513.1 NP_001393442.1 copper-transporting ATPase 2 isoform f
NM_001406514.1 NP_001393443.1 copper-transporting ATPase 2 isoform g
NM_001406515.1 NP_001393444.1 copper-transporting ATPase 2 isoform h
NM_001406516.1 NP_001393445.1 copper-transporting ATPase 2 isoform h
NM_001406517.1 NP_001393446.1 copper-transporting ATPase 2 isoform i
NM_001406518.1 NP_001393447.1 copper-transporting ATPase 2 isoform i
NM_001406519.1 NP_001393448.1 copper-transporting ATPase 2 isoform j
NM_001406520.1 NP_001393449.1 copper-transporting ATPase 2 isoform k
NM_001406521.1 NP_001393450.1 copper-transporting ATPase 2 isoform k
NM_001406522.1 NP_001393451.1 copper-transporting ATPase 2 isoform k
NM_001406523.1 NP_001393452.1 copper-transporting ATPase 2 isoform m
NM_001406524.1 NP_001393453.1 copper-transporting ATPase 2 isoform l
NM_001406525.1 NP_001393454.1 copper-transporting ATPase 2 isoform n
NM_001406526.1 NP_001393455.1 copper-transporting ATPase 2 isoform o
NM_001406527.1 NP_001393456.1 copper-transporting ATPase 2 isoform d
NM_001406528.1 NP_001393457.1 copper-transporting ATPase 2 isoform d
NM_001406530.1 NP_001393459.1 copper-transporting ATPase 2 isoform p
NM_001406531.1 NP_001393460.1 copper-transporting ATPase 2 isoform e
NM_001406532.1 NP_001393461.1 copper-transporting ATPase 2 isoform e
NM_001406534.1 NP_001393463.1 copper-transporting ATPase 2 isoform q
NM_001406535.1 NP_001393464.1 copper-transporting ATPase 2 isoform r
NM_001406536.1 NP_001393465.1 copper-transporting ATPase 2 isoform s
NM_001406537.1 NP_001393466.1 copper-transporting ATPase 2 isoform t
NM_001406538.1 NP_001393467.1 copper-transporting ATPase 2 isoform u
NM_001406539.1 NP_001393468.1 copper-transporting ATPase 2 isoform v
NM_001406540.1 NP_001393469.1 copper-transporting ATPase 2 isoform w
NM_001406541.1 NP_001393470.1 copper-transporting ATPase 2 isoform x
NM_001406542.1 NP_001393471.1 copper-transporting ATPase 2 isoform x
NM_001406543.1 NP_001393472.1 copper-transporting ATPase 2 isoform y
NM_001406544.1 NP_001393473.1 copper-transporting ATPase 2 isoform z
NM_001406545.1 NP_001393474.1 copper-transporting ATPase 2 isoform aa
NM_001406546.1 NP_001393475.1 copper-transporting ATPase 2 isoform bb
NM_001406547.1 NP_001393476.1 copper-transporting ATPase 2 isoform cc
NM_001406548.1 NP_001393477.1 copper-transporting ATPase 2 isoform dd
Molecular Function GO Annotation Evidence References Source
enables ATP binding IDA
IDA: Inferred from direct assay
15205462 GOA
enables P-type divalent copper transporter activity IMP
IMP: Inferred from mutant phenotype
9837819 GOA
enables copper ion binding IDA
IDA: Inferred from direct assay
12029094 GOA
enables copper ion transmembrane transporter activity IDA
IDA: Inferred from direct assay
26004889 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
12968035 GOA
Biological Process GO Annotation Evidence References Source
involved in copper ion import IDA
IDA: Inferred from direct assay
16472602 GOA
involved in copper ion transport IDA
IDA: Inferred from direct assay
26004889 GOA
involved in copper ion transport IGI
IGI: Inferred from genetic interaction
12572677 GOA
involved in copper ion transport IMP
IMP: Inferred from mutant phenotype
9837819 GOA
involved in response to copper ion IDA
IDA: Inferred from direct assay
15269005 GOA
involved in sequestering of calcium ion IDA
IDA: Inferred from direct assay
16472602 GOA
Cellular Component GO Annotation Evidence References Source
colocalizes with basolateral plasma membrane IDA
IDA: Inferred from direct assay
15269005 GOA
colocalizes with cytoplasmic vesicle IDA
IDA: Inferred from direct assay
16472602 GOA
located in late endosome IDA
IDA: Inferred from direct assay
15681833 GOA
colocalizes with perinuclear region of cytoplasm IDA
IDA: Inferred from direct assay
16939419 GOA
colocalizes with trans-Golgi network IDA
IDA: Inferred from direct assay
15269005 GOA
located in trans-Golgi network membrane IDA
IDA: Inferred from direct assay
9837819 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

ATP7B Protein Structure

HMA

HMA: Heavy-metal-associated domain (61 - 106)

HMA

HMA: Heavy-metal-associated domain (147 - 206)

HMA

HMA: Heavy-metal-associated domain (261 - 317)

HMA

HMA: Heavy-metal-associated domain (364 - 423)

HMA

HMA: Heavy-metal-associated domain (492 - 550)

HMA

HMA: Heavy-metal-associated domain (568 - 628)

E1-E2_ATPase

E1-E2_ATPase: E1-E2 ATPase (769 - 1016)

Hydrolase

Hydrolase: haloacid dehalogenase-like hydrolase (1021 - 1279)

  • 0
  • 300
  • 600
  • 900
  • 1200
  • 1465 a.a.
Protein Preferred Names Protein Names

copper-transporting ATPase 2

  • ATPase, Cu(2+)- transporting, beta polypeptide

ATP7B Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method References
Intra
ATP7B P35670 COMMD1 Homo sapiens Q8N668 17919502
Intra
ATP7B P35670 COMMD1 Homo sapiens Q8N668 17919502
Intra
ATP7B P35670 COMMD1 Homo sapiens Q8N668 12968035
Cross: Cross-species interaction Intra: Intraspecies interaction

ATP7B Antibodies

Cat. No. Product Name Application Reactivity
HY-P811101 ATP7B Antibody WB, IHC-P, ICC/IF Human, Mouse
HY-P82284 ATP7B Antibody (YA2029) WB, ICC/IF, FC Human

Related Diseases

Diseases Alias
Wilson Disease
  • Hepatolenticular Degeneration

  • WD

  • Wilson'S Disease

  • WND

  • Westphal-Strumpell Syndrome

  • Copper Storage Disease

  • Cerebral Pseudosclerosis

  • Westphal Pseudosclerosis

  • Hepatolenticular Degeneration Syndrome

  • Copper Retention

  • Hepatocerebral Degeneration

  • Kinnier-Wilson Disease

  • Neurohepatic Degeneration

  • Progressive Hepatolenticular Degeneration

  • Lenticular Degenerative Disease

  • Wilson'S Syndrome

  • Lenticular Syndrome

Wolff Mental Retardation Syndrome
  • Intellectual Disability, Wolff Type

  • Wolff-Zimmermann Syndrome

  • Mental Retardation Wolff Type

Spastic Ataxia
  • Spax

  • Ataxia, Spastic

Menkes Disease
  • Copper Transport Disease

  • Menkes Syndrome

  • MNK

  • Kinky Hair Disease

  • Steely Hair Disease

  • Menkes Kinky-Hair Syndrome

  • Mk

  • Steely Hair Syndrome

  • Menkea Syndrome

  • Md

  • Menkes Kinky Hair Syndrome

  • Hypocupremia, Congenital

  • Kinky Hair Syndrome

  • X-Linked Copper Deficiency

  • Menkes Kinky Hair Disease

Metal Metabolism Disorder
  • Metal Metabolism, Inborn Errors

  • Inborn Metal Metabolism Disorder

Disorder Of Copper Metabolism
Spinal Muscular Atrophy, Distal, X-Linked 3
  • SMAX3

  • Dsmax

  • X-Linked Distal Spinal Muscular Atrophy Type 3

  • X-Linked Distal Spinal Muscular Atrophy 3

  • Atp7a-Related Distal Motor Neuropathy

  • X-Linked Dhmn3

  • X-Linked Distal Hereditary Motor Neuropathy Type 3

  • X-Linked Dsma3

  • Spinal Muscular Atrophy, Distal, X-Linked Recessive

  • X-Linked Recessive Distal Spinal Muscular Atrophy

  • Distal Spinal Muscular Atrophy, X-Linked, 3

  • DSMAX3

  • Spinal Muscular Atrophy Distal X-Linked Recessive

  • Atrophy, Muscular, Spinal, Distal, X-Linked, Type 3

Occipital Horn Syndrome
  • OHS

  • Eds Ix

  • Cutis Laxa X-Linked

  • Cutis Laxa, X-Linked

  • Cutis Laxa, X-Linked, Formerly

  • Ehlers-Danlos Syndrome, Occipital Horn Type, Formerly

  • Eds Ix, Formerly

  • Eds9, Formerly

  • Ehlers-Danlos Syndrome Type 9

  • Ehlers-Danlos Syndrome Type Ix

  • X-Linked Cutis Laxa

  • Ehlers-Danlos Syndrome, Occipital Horn Type

  • Eds9

  • Ehlers-Danlos Syndrome Occipital Horn Type

Copper Deficiency Myelopathy
  • Swayback

  • Human Swayback

Hemochromatosis, Type 1
  • Hemochromatosis

  • Hemochromatosis Type 1

  • Hereditary Hemochromatosis

  • Hh

  • HFE1

  • Hfe Hemochromatosis, Modifier Of

  • Symptomatic Form Of Classic Hemochromatosis

  • Symptomatic Form Of Hemochromatosis Type 1

  • Symptomatic Form Of Hfe-Related Hereditary Hemochromatosis

  • Haemochromatosis

  • Iron Storage Disorder

  • Bronze Diabetes

  • Hereditary Haemochromatosis

  • Hlah

  • Hfe

  • Hemochromatosis, Hereditary

  • Diabetes Bronze

  • Classic Hemochromatosis

  • Hfe-Associated Hereditary Hemochromatosis

  • Hemochromatosis Classic

  • Bronzed Cirrhosis

  • Familial Hemochromatosis

  • Genetic Hemochromatosis

  • Hc

  • Pigmentary Cirrhosis

  • Primary Hemochromatosis

  • Troisier-Hanot-Chauffard Syndrome

  • Von Recklenhausen-Applebaum Disease

  • Hemochromatosis 1

  • Primary Hereditary Hemochromatosis

  • Bronze Cirrhosis

Mental Retardation, Enteropathy, Deafness, Peripheral Neuropathy, Ichthyosis, And Keratoderma
  • Mednik Syndrome

  • Erythrokeratodermia Variabilis 3

  • MEDNIK

  • Ekv3

  • Erythrokeratodermia Variabilis, Kamouraska Type

  • Mental Retardation, Enteropathy, Deafness, Neuropathy, Ichthyosis, Keratodermia

  • Intellectual Disability-Enteropathy-Deafness-Peripheral Neuropathy-Ichthyosis-Keratodermia Syndrome

  • Intellectual Disability-Enteropathy-Hearing Loss-Peripheral Neuropathy-Ichthyosis-Keratodermia Syndrome

  • Intellectual Disability, Enteropathy, Deafness, Peripheral Neuropathy, Ichthyosis, And Keratoderma

  • Erythrokeratodermia Variabilis Kamouraska Type

  • Mental Retardation, Enteropathy, Deafness, Peripheral Neuropathy, Ichthyosis, Keratoderma

Liver Disease
  • Liver Failure

  • Liver Diseases

  • Abnormality Of The Liver

  • Liver Dysfunction

  • Disorder Of Liver

  • Hepatic Disorder

  • Hepatic Disease

  • Disease Of Bilirubin Metabolism

  • Disorder Of Bilirubin Metabolism

  • Liver Decompensation

  • Liver Function Failure

  • Hepatic Failure Nos

  • Liver Failure Nos

  • End Stage Liver Disease

  • Decompensated Liver Failure

  • Decompensation Of Liver Function

  • Hepatic Decompensation

  • Hepatic Insufficiency

  • Liver Cell Necrosis With Hepatic Failure

  • Liver Insufficiency

  • Decompensated Liver Disease

  • End Stage Liver Failure

  • Liver Necrosis With Hepatic Failure

Intrahepatic Gall Duct Cancer
  • Malignant Neoplasm Of Intrahepatic Bile Ducts

  • Malignant Neoplasm Of Intrahepatic Gall Duct

  • Ca Intrahepatic Bile Ducts

  • Malignant Neoplasm Of Intrahepatic Biliary Passages

  • Intrahepatic Bile Duct Carcinoma

Movement Disease
  • Movement Disorders

  • Movement Disorder

Combat Disorder
  • Combat Disorders

  • Combat Neurosis

Complement Component 2 Deficiency
  • C2D

  • C2 Deficiency

  • Complement 2 Deficiency

  • Complement Component-2

Cholestasis, Progressive Familial Intrahepatic, 3
  • PFIC3

  • Cholestasis, Progressive Familial Intrahepatic 3

  • Mdr3 Deficiency

  • Progressive Familial Intrahepatic Cholestasis Type 3

  • Progressive Familial Intrahepatic Cholestasis 3

  • Progressive Familial Intrahepatic Cholestasis With Elevated Serum Gamma-Glutamyltransferase

  • Cholestasis, Progressive Familial Intrahepatic, With Elevated Serum Gamma-Glutamyltransferase

  • Progressive Familial Intrahepatic Cholestasis With Elevated Serum Gama-Glutamyltransferase

  • Cholestasis, Intrahepatic, Familial, Progressive, Type 3

Central Pontine Myelinolysis
  • Myelinolysis, Central Pontine

  • Osmotic Demyelination Syndrome

  • Cpm

  • Myelinolysis Central Pontine

  • Central Pontine Myelinosis

Ovarian Cancer
  • Ovarian Carcinoma

  • Ovarian Neoplasm

  • Malignant Tumour Of Ovary

  • Cancer Of The Ovary

  • Epithelial Ovarian Cancer

  • Neoplasm Of Ovary

  • Ovarian Neoplasms

  • Ovarian Cancers

  • Malignant Neoplasm Of Ovary

  • Primary Malignant Neoplasm Of Ovary

  • Ovarian Cancer, Somatic

  • Malignant Ovarian Tumor

  • Ovary Neoplasm

  • Primary Ovarian Cancer

  • Tumor Of The Ovary

  • Malignant Neoplasm Of The Ovary

  • Malignant Tumor Of The Ovary

  • Ovarian Malignant Tumor

  • OC

  • Ovarian Carcinomas

  • Cancer, Ovarian

  • Cancer Of Ovary

  • Ovary Cancer

  • Ca Ovary

Aceruloplasminemia
  • Cerebellar Ataxia

  • Hypoceruloplasminemia

  • Hemosiderosis, Systemic, Due To Aceruloplasminemia

  • Familial Apoceruloplasmin Deficiency

  • Hereditary Ceruloplasmin Deficiency

  • Deficiency Of Ferroxidase

  • Hypoceruloplasminemia, Hereditary

  • Ceruloplasmin Deficiency

  • Systemic Hemosiderosis Due To Aceruloplasminemia

  • ACERULOP

Cataract
  • Cataracts

  • Cat - [Cataract]

  • Cataract Form

  • Lens Opacity

  • Lens Opacities

Choreatic Disease
  • Chorea

  • Hereditary Chorea

Bilirubin Metabolic Disorder
  • Hyperbilirubinemia

  • Hereditary Hyperbilirubinemia

  • Hyperbilirubinemia, Hereditary

  • Hyperbilirubinaemia

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Felis catus ATP7B VGNC VGNC:68723
Bos taurus ATP7B VGNC VGNC:26328
Macaca mulatta ATP7B VGNC VGNC:70191
Mus musculus ATP7B MGD MGI:103297
Rattus norvegicus ATP7B RGD RGD:2180
Canis familiaris ATP7B VGNC VGNC:38286
Others ATP7B NCBI