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 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 membrane. Predicted to be active in plasma membrane and trans-Golgi network. 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

Expression

All Expression Data

10 figures from 7 publications

Cross-Species Comparison

High Throughput Data

GEO (1)

Expression Atlas

UO scRNA-seq (UCSC browser)

Single Cell Expression Atlas

Daniocell

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

Human Disease	Fish	Conditions	Citations
Menkes disease	atp7a^j246/j246	standard conditions	Madsen et al., 2008
Menkes disease	atp7a^vu69/vu69	standard conditions	Madsen et al., 2008
Menkes disease	atp7a^vu69/vu69	standard conditions	Mendelsohn et al., 2006
Menkes disease	atp7a^gw71/gw71	standard conditions	Ackerman et al., 2018

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 InterPro	1482
UniProtKB:F1QEG1 InterPro	1482

Transcripts

Genome Browsers

Type	Name	Annotation Method	Length (nt)	Analysis
mRNA	atp7a-201 (1) Ensembl	Ensembl	7,709 nt	Select Tool ZFIN BLAST
mRNA	atp7a-202 (1) Ensembl	Ensembl	9,232 nt	Select Tool ZFIN BLAST
mRNA	atp7a-203 (1) Ensembl	Ensembl	9,097 nt	Select Tool ZFIN BLAST

Interactions and Pathways

No data available

Antibodies

Name	Type	Antigen Genes	Isotype	Host Organism	Assay	Source	Citations
Ab1-atp7a	polyclonal	atp7a		Rabbit	WB		2

Plasmids

No data available

Constructs

Marker Relationships

Sequences

Orthology

Comparative Orthology: Alliance
Gene Tree: Ensembl

Citations