ATP7B - ATPase copper transporting beta Gene
Also Known as WD; PWD; WC1; WND
Species: Homo sapiens
About ATP7B
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 |
ATP7B Protein Structure
HMA: Heavy-metal-associated domain (61 - 106)
HMA: Heavy-metal-associated domain (147 - 206)
HMA: Heavy-metal-associated domain (261 - 317)
HMA: Heavy-metal-associated domain (364 - 423)
HMA: Heavy-metal-associated domain (492 - 550)
HMA: Heavy-metal-associated domain (568 - 628)
E1-E2_ATPase: E1-E2 ATPase (769 - 1016)
Hydrolase: haloacid dehalogenase-like hydrolase (1021 - 1279)
- 0
- 300
- 600
- 900
- 1200
- 1465 a.a.
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
copper-transporting ATPase 2 |
|
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 |
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 |
|
|
| Wolff Mental Retardation Syndrome |
|
|
| Spastic Ataxia |
|
|
| Menkes Disease |
|
|
| Metal Metabolism Disorder |
|
|
| Disorder Of Copper Metabolism |
|
|
| Spinal Muscular Atrophy, Distal, X-Linked 3 |
|
|
| Occipital Horn Syndrome |
|
|
| Copper Deficiency Myelopathy |
|
|
| Hemochromatosis, Type 1 |
|
|
| Mental Retardation, Enteropathy, Deafness, Peripheral Neuropathy, Ichthyosis, And Keratoderma |
|
|
| Liver Disease |
|
|
| Intrahepatic Gall Duct Cancer |
|
|
| Movement Disease |
|
|
| Combat Disorder |
|
|
| Complement Component 2 Deficiency |
|
|
| Cholestasis, Progressive Familial Intrahepatic, 3 |
|
|
| Central Pontine Myelinolysis |
|
|
| Ovarian Cancer |
|
|
| Aceruloplasminemia |
|
|
| Cataract |
|
|
| Choreatic Disease |
|
|
| Bilirubin Metabolic Disorder |
|
|
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 |