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 cellular copper ion homeostasis; copper ion export; and copper ion import. Predicted to act upstream of or within copper ion transport. Predicted to be active in 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
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 | 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
|
1332 | |||||||||||||
|
UniProtKB:A0A8N7T720
|
1364 |
Interactions and Pathways
No data available
Plasmids
No data available