Gene
atp7b
- ID
- ZDB-GENE-061220-5
- Name
- ATPase copper transporting beta
- Symbol
- atp7b Nomenclature History
- Previous Names
-
- si:dkey-276l13.3 (1)
- Type
- protein_coding_gene
- Location
- Chr: 6 Mapping Details/Browsers
- Description
- Predicted to enable P-type divalent copper transporter activity and copper ion binding activity. Predicted to be involved in copper ion export; copper ion import; and intracellular copper ion homeostasis. Predicted to act upstream of or within copper ion transport. Predicted to be located in membrane. Predicted to be active in plasma membrane and trans-Golgi network. Is expressed in head and liver. Human ortholog(s) of this gene implicated in Wilson disease. Orthologous to human ATP7B (ATPase copper transporting beta).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 3 figures from 3 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
Phenotype Summary
Mutations
| Allele | Type | Localization | Consequence | Mutagen | Supplier |
|---|---|---|---|---|---|
| hza7 | Allele with one deletion | Unknown | Unknown | CRISPR | |
| sa9976 | Allele with one point mutation | Unknown | Splice Site | ENU | |
| sa17744 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| sa20647 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| sa33814 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| sa33815 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| sa40636 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| sa40637 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| zf3390 | Allele with one deletion | Unknown | Premature Stop | CRISPR | |
| zf3391 | Allele with one delins | Unknown | Frameshift | CRISPR |
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| Targeting Reagent | Created Alleles | Citations |
|---|---|---|
| CRISPR1-atp7b | Mi et al., 2020 | |
| CRISPR2-atp7b | (5) | |
| MO1-atp7b | N/A | Reed et al., 2018 |
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Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| Wilson disease | Alliance | Wilson disease | 277900 |
Domain, Family, and Site Summary
| Type | InterPro ID | Name |
|---|---|---|
| Conserved_site | IPR017969 | Heavy-metal-associated, conserved site |
| Domain | IPR006121 | Heavy metal-associated domain, HMA |
| Domain | IPR006122 | Heavy metal-associated domain, copper ion-binding |
| Domain | IPR044492 | P-type ATPase, haloacid dehalogenase domain |
| Family | IPR001757 | P-type ATPase |
| Family | IPR027256 | P-type ATPase, subfamily IB |
| Homologous_superfamily | IPR008250 | P-type ATPase, A domain superfamily |
| Homologous_superfamily | IPR023214 | HAD superfamily |
| Homologous_superfamily | IPR023298 | P-type ATPase, transmembrane domain superfamily |
| Homologous_superfamily | IPR023299 | P-type ATPase, cytoplasmic domain N |
| Homologous_superfamily | IPR036163 | Heavy metal-associated domain superfamily |
| Homologous_superfamily | IPR036412 | HAD-like superfamily |
| PTM | IPR018303 | P-type ATPase, phosphorylation site |
Domain Details Per Protein
| Protein | Additional Resources | Length | HAD-like superfamily | HAD superfamily | Heavy-metal-associated, conserved site | Heavy metal-associated domain, copper ion-binding | Heavy metal-associated domain, HMA | Heavy metal-associated domain superfamily | P-type ATPase | P-type ATPase, A domain superfamily | P-type ATPase, cytoplasmic domain N | P-type ATPase, haloacid dehalogenase domain | P-type ATPase, phosphorylation site | P-type ATPase, subfamily IB | P-type ATPase, transmembrane domain superfamily |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| UniProtKB:A0A8M3B381 | InterPro | 1332 | |||||||||||||
| UniProtKB:A0A8N7T720 | InterPro | 1364 | |||||||||||||
| UniProtKB:A0AB32TVH7 | InterPro | 1186 |
Interactions and Pathways
No data available
Plasmids
No data available
No data available
| Relationship | Marker Type | Marker | Accession Numbers | Citations |
|---|---|---|---|---|
| Contained in | BAC | DKEY-276L13 | ZFIN Curated Data |
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| Type | Accession # | Sequence | Length (nt/aa) | Analysis |
|---|---|---|---|---|
| RNA | RefSeq:XM_068221887 (1) | 3789 nt | ||
| Genomic | GenBank:BX511272 (1) | 193311 nt | ||
| Polypeptide | UniProtKB:A0A8N7T720 (1) | 1364 aa |
- Li, L., Tai, Z., Liu, W., Luo, Y., Wu, Y., Lin, S., Liu, M., Gao, B., Liu, J.X. (2023) Copper overload impairs hematopoietic stem and progenitor cell proliferation via prompting HSF1/SP1 aggregation and the subsequently downregulating FOXM1-Cytoskeleton axis. iScience. 26:106406106406
- Wu, Y., Liu, W., Li, L., Tai, Z., Gao, B., Liu, J.X. (2023) Atp7b deficiency induces zebrafish eye developmental defects. Metallomics : integrated biometal science. 15(5):
- Li, C., Wu, Y., Li, H., Wang, H., Liu, J.X. (2022) Lipid-related metabolism during zebrafish embryogenesis under unbalanced copper homeostasis. Fish physiology and biochemistry. 48(6):1571-1586
- Jin, X., Liu, W., Miao, J., Tai, Z., Li, L., Guan, P., Liu, J.X. (2021) Copper ions impair zebrafish skeletal myofibrillogenesis via epigenetic regulation. FASEB journal : official publication of the Federation of American Societies for Experimental Biology. 35:e21686
- Li, Z.P., Kwok, M.L., Samuel, T.Y.L., Cheung, K.C.P., Chan, K.M. (2020) Functional analyses of copper transporter genes in the human liver cell line HepG2. Toxicology in vitro : an international journal published in association with BIBRA. 66:104856
- Mi, X., Li, Z., Yan, J., Li, Y., Zheng, J., Zhaung, Z., Yang, W., Gong, L., Shi, J. (2020) Activation of HIF-1 signaling ameliorates liver steatosis in zebrafish atp7b deficiency (Wilson's disease) models. Biochimica et biophysica acta. Molecular basis of disease. 1866(10):165842
- Zhang, T., Guan, P., Liu, W., Zhao, G., Fang, Y., Fu, H., Gui, J.F., Li, G., Liu, J.X. (2020) Copper Stress Induces Zebrafish Central Neural System Myelin Defects via WNT/NOTCH-hoxb5b Signaling and pou3f1/fam168a/fam168b DNA Methylation. Biochimica et biophysica acta. Gene regulatory mechanisms. 1863(10):194612
- Kwok, M.L., Chan, K.M. (2019) Functional characterization of copper transporters zCtr1, zAtox1, zAtp7a and zAtp7b in zebrafish liver cell line ZFL. Metallomics : integrated biometal science. 11(9):1532-1546
- Wang, C.C., Si, L.F., Guo, S.N., Zheng, J.L. (2019) Negative effects of acute cadmium on stress defense, immunity, and metal homeostasis in liver of zebrafish: The protective role of environmental zinc dpre-exposure. Chemosphere. 222:91-97
- Reed, E., Lutsenko, S., Bandmann, O. (2018) Animal models of Wilson disease. Journal of neurochemistry. 146(4):356-373
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