ZFIN is now using GRCz12tu for Genomic Data
Gene
atp7a
- ID
- ZDB-GENE-060825-45
- Name
- ATPase copper transporting alpha
- Symbol
- atp7a Nomenclature History
- Previous Names
-
- cal
- calamity
- wu:fc43e01
- zgc:153422
- zgc:158633
- Type
- protein_coding_gene
- Location
- Chr: 14 Mapping Details/Browsers
- Genome Assembly
- GRCz12tu
- Annotation Status
- Current
- Description
- Predicted to enable P-type divalent copper transporter activity and copper ion binding activity. Acts upstream of or within response to copper ion. Predicted to be located in trans-Golgi network. Predicted to be active in membrane. Is expressed in digestive system; gill; locus coeruleus; neural tube; and notochord. Used to study Menkes disease. Human ortholog(s) of this gene implicated in Menkes disease; X-linked distal spinal muscular atrophy 3; cutis laxa; and occipital horn syndrome. Orthologous to human ATP7A (ATPase copper transporting alpha).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 10 figures from 7 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
- All Phenotype Data
- 23 figures from 9 publications
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| Menkes disease | Alliance | Menkes disease | 309400 |
| occipital horn syndrome | Alliance | Occipital horn syndrome | 304150 |
| X-linked distal spinal muscular atrophy 3 | Alliance | Neuronopathy, distal hereditary motor, X-linked | 300489 |
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:Q4F8H5 | InterPro | 1482 | |||||||||||||
| UniProtKB:F1QEG1 | InterPro | 1482 |
- Genome Browsers
Interactions and Pathways
No data available
Plasmids
No data available
- Genome Browsers