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
Description
Predicted to have copper transmembrane transporter activity, phosphorylative mechanism. Involved in response to copper ion. Predicted to localize to perinuclear region of cytoplasm and trans-Golgi network. 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. Is expressed in digestive system; gill; locus coeruleus; neural tube; and notochord. Orthologous to human ATP7A (ATPase copper transporting alpha).
Genome Resources
Note
None
Comparative Information
Expression
All Expression Data
10 figures from 7 publications
Cross-Species Comparison
High Throughput Data
Thisse Expression Data
No data available
Wild Type Expression Summary
Phenotype
All Phenotype Data
18 figures from 8 publications
Cross-Species Comparison
Alliance
Phenotype Summary
Mutations
Mutants
Sequence Targeting Reagents
Human Disease
Associated With atp7a Human Ortholog
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
Associated With atp7a Via Experimental Models
Gene Ontology
Protein Domains
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:Q4F8H5 1482
UniProtKB:F1QEG1 1482
Transcripts
Genome Browsers
Interactions and Pathways
No data available
Antibodies
Name Type Antigen Genes Isotype Host Organism Assay Source Citations
Ab1-atp7a polyclonal Rabbit
  • WB
2
Plasmids
No data available
Constructs
Marker Relationships
Sequences
Orthology
Comparative Orthology
Alliance
Gene Tree
Ensembl
Citations