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

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
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