ATP7 ATP7 [Drosophila melanogaster (fruit fly)] - Gene

Summary

Official Symbol: ATP7provided by FlyBase
Official Full Name: ATP7provided by FlyBase
Primary source: FLYBASE:FBgn0030343
Locus tag: Dmel_CG1886
See related: AllianceGenome:FB:FBgn0030343
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Drosophila melanogaster
Lineage: Eukaryota; Metazoa; Ecdysozoa; Arthropoda; Hexapoda; Insecta; Pterygota; Neoptera; Endopterygota; Diptera; Brachycera; Muscomorpha; Ephydroidea; Drosophilidae; Drosophila; Sophophora
Also known as: atp7; Atp7; Atp7A; CG1886; dATP7; dmATP7; DmATP7; Dmel\CG1886; lincRNA.S9122
Summary: Enables copper ion transmembrane transporter activity. Involved in several processes, including adult chitin-containing cuticle pigmentation; copper ion import across plasma membrane; and intracellular copper ion homeostasis. Located in cytoplasm and plasma membrane. Is expressed in several structures, including epithelial tube; ganglia; gonad; gut section; and organism subdivision. Used to study Menkes disease and metal metabolism disorder. Human ortholog(s) of this gene implicated in Menkes disease; Wilson disease; X-linked distal spinal muscular atrophy 3; cutis laxa; and occipital horn syndrome. Orthologous to several human genes including ATP7B (ATPase copper transporting beta). [provided by Alliance of Genome Resources, Dec 2024]
Orthologs: all
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Genomic context

Location:: 10F1-10F2; 1-37 cM

Exon count:: 4

Annotation release	Status	Assembly	Chr	Location
Release 6.54	current	Release 6 plus ISO1 MT (GCF_000001215.4)	X	NC_004354.4 (11855022..11864754)
Release 5.57	previous assembly	Release 5 (GCF_000001215.2)	X	NC_004354.3 (11749055..11758787)

Chromosome X - NC_004354.4 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

ATP7 Mutation is associated with Menkes and Wilson Diseases, Motor Neuropathy, and Susceptibility to Alzheimer's Disease.
Title: In Vivo Modeling of the Pathogenic Effect of Copper Transporter Mutations That Cause Menkes and Wilson Diseases, Motor Neuropathy, and Susceptibility to Alzheimer's Disease.
This study showed ATP7A mutations impair copper metabolism resulting in neurodegeneration and neurodevelopmental defects in Menkes disease.
Title: Molecular basis of neurodegeneration and neurodevelopmental defects in Menkes disease.
Using a model of HD, we found that altered expression of Ctr1B or ATP7 in the brain, or modulation of dietary copper availability, significantly modified the phenotypes caused by human Htt exon1-polyQ expression.
Title: Huntington disease arises from a combinatory toxicity of polyglutamine and copper binding.
-regulation of ATP7 specifically in the SIFamide-expressing neurons resulted in male-male courtship behavior
Title: Functional significance of the copper transporter ATP7 in peptidergic neurons and endocrine cells in Drosophila melanogaster.
These results demonstrate DmATP7 is able to functionally compensate for the absence of ATP7A, with important trafficking motifs conserved in these distantly related orthologues.
Title: Conservation of copper-transporting P(IB)-type ATPase function.
These results highlight the role of DmATP7-mediated copper uptake in the neurodevelopment of Drosophila melanogaster and provide a framework for the analysis of potential gene interactions influencing Menkes disease.
Title: A Drosophila model of Menkes disease reveals a role for DmATP7 in copper absorption and neurodevelopment.
role for DmATP7 in export of copper from midgut cells.
Title: Expression and localisation of the essential copper transporter DmATP7 in Drosophila neuronal and intestinal tissues.
lethality observed in DmATP7 mutant flies is the earliest seen for any copper homeostasis gene
Title: Essential roles in development and pigmentation for the Drosophila copper transporter DmATP7.

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Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Homology

NCBI Orthologs

Orthologs from OrthoDB

Gene Ontology Provided by FlyBase

Function	Evidence Code	Pubs
enables ATP binding	IEA Inferred from Electronic Annotation more info
enables ATP hydrolysis activity	IEA Inferred from Electronic Annotation more info
enables ATPase-coupled monoatomic cation transmembrane transporter activity	IEA Inferred from Electronic Annotation more info
enables P-type divalent copper transporter activity	IBA Inferred from Biological aspect of Ancestor more info
enables copper ion binding	IBA Inferred from Biological aspect of Ancestor more info
enables copper ion binding	IEA Inferred from Electronic Annotation more info
enables copper ion binding	ISS Inferred from Sequence or Structural Similarity more info	PubMed
enables copper ion transmembrane transporter activity	IMP Inferred from Mutant Phenotype more info	PubMed

Process	Evidence Code	Pubs
involved_in adult chitin-containing cuticle pigmentation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in copper ion export	IBA Inferred from Biological aspect of Ancestor more info
involved_in copper ion import	IBA Inferred from Biological aspect of Ancestor more info
involved_in copper ion import across plasma membrane	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in developmental pigmentation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in intracellular copper ion homeostasis	IBA Inferred from Biological aspect of Ancestor more info
involved_in intracellular copper ion homeostasis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in larval development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in monoatomic cation transport	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in membrane	IEA Inferred from Electronic Annotation more info
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in plasma membrane	IDA Inferred from Direct Assay more info	PubMed
is_active_in trans-Golgi network	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: ATP7

Names: ATP7-PB; ATP7-PC; CG1886-PB; CG1886-PC

NP_001259466.1

EC 7.2.2.9

NP_572756.3

EC 7.2.2.9

NCBI Reference Sequences (RefSeq)

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Genome Annotation

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference assembly

Genomic

NC_004354.4 Reference assembly

Range

11855022..11864754

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001272537.2 → NP_001259466.1 ATP7, isoform C [Drosophila melanogaster]

See identical proteins and their annotated locations for NP_001259466.1

Status: REVIEWED

UniProtKB/TrEMBL

Q6IDF6, Q9VYT4

Conserved Domains (4) summary

COG2217
Location:285 → 1131

ZntA; Cation transport ATPase [Inorganic ion transport and metabolism]

COG4087
Location:984 → 1085

COG4087; Soluble P-type ATPase [General function prediction only]

cd00371
Location:97 → 159

HMA; Heavy-metal-associated domain (HMA) is a conserved domain of approximately 30 amino acid residues found in a number of proteins that transport or detoxify heavy metals, for example, the CPx-type heavy metal ATPases and copper chaperones. HMA domain ...

pfam00122
Location:489 → 735

E1-E2_ATPase; E1-E2 ATPase
NM_132528.3 → NP_572756.3 ATP7, isoform B [Drosophila melanogaster]

See identical proteins and their annotated locations for NP_572756.3

Status: REVIEWED

UniProtKB/TrEMBL

Q6IDF6, Q9VYT4

Conserved Domains (4) summary

COG2217
Location:285 → 1131

ZntA; Cation transport ATPase [Inorganic ion transport and metabolism]

COG4087
Location:984 → 1085

COG4087; Soluble P-type ATPase [General function prediction only]

cd00371
Location:97 → 159

HMA; Heavy-metal-associated domain (HMA) is a conserved domain of approximately 30 amino acid residues found in a number of proteins that transport or detoxify heavy metals, for example, the CPx-type heavy metal ATPases and copper chaperones. HMA domain ...

pfam00122
Location:489 → 735

E1-E2_ATPase; E1-E2 ATPase