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 have copper transmembrane transporter activity, phosphorylative mechanism. Predicted to be involved in cellular copper ion homeostasis and copper ion export. Predicted to localize to perinuclear region of cytoplasm and trans-Golgi network. Human ortholog(s) of this gene implicated in Wilson disease. Is expressed in head and liver. 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