FB2026_03 , released September 17, 2026
Human Disease Model Report: copper metabolism disorder (postulated), SLC31A-related
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General Information
Name
copper metabolism disorder (postulated), SLC31A-related
FlyBase ID
FBhh0000439
Disease Ontology Term
Parent Disease
OMIM
Overview

This report describes Drosophila models of copper metabolism disorder (postulated), SLC31A-related. Either excess amounts of or deficiencies of elemental copper result in cellular damage and disease. There are three Drosophila genes, Ctr1A, Ctr1B and Ctr1C, orthologous to the human copper transporter genes SLC31A1 and SLC31A2. In flies, overexpression of the Dmel\Ctr1B has been used to model copper toxicity. In combination with Dmel\ATP7 (see FBhh0000438), RNAi-effected reduction in the expression of Dmel\Ctr1A has been used to model copper deficiency.

A UAS construct of the Hsap\SLC31A1 gene has been introduced into flies. Heterologous rescue (functional complementation) has been demonstrated for a lethal allele of Dmel\Ctr1A.

Pan-neuronal overexpression of Dmel\Ctr1B results in a reduction in viability; these effects are exacerbated by dietary copper supplementation and rescued by copper limitation, indicating a copper toxicity phenotype. This phenotype mimics Wilson disease (MIM:277900, FBhh0000079).

[updated Nov. 2016 by FlyBase; FBrf0222196]

Disease Summary Information
Disease Summary: copper metabolism disorder (postulated), SLC31A-related
OMIM report
Human gene(s) implicated
Symptoms and phenotype
Genetics
Cellular phenotype and pathology
Molecular information
External links
Disease synonyms
copper metabolism disorder
copper transport disorder
Ortholog Information
Human gene(s) in FlyBase
Human gene (HGNC)
D. melanogaster ortholog (based on DIOPT)
Comments on ortholog(s)

Many to many: 2 human genes to 3 Drosophila genes; the other gene in human is SLC31A1.

Human gene (HGNC)
D. melanogaster ortholog (based on DIOPT)
Comments on ortholog(s)

Many to many: 2 human genes to 3 Drosophila genes; the other gene in human is SLC31A2.

Other mammalian ortholog(s) used
    D. melanogaster Gene Information (2)
    Gene Snapshot
    Copper transporter 1A (Ctr1A) encodes a plasma membrane protein that functions as a copper transporter. It is required to drive neuropeptide maturation during normal growth and development. [Date last reviewed: 2019-03-07]
    Cellular component (GO)
    Gene Groups / Pathways
    Comments on ortholog(s)

    High-scoring ortholog of human gene SLC31A1; moderate-scoring ortholog of human SLC31A2 (3 Drosophila to 2 human). Dmel\Ctr1A is the most broadly expressed of the 3 fly genes. It shares 34-40% identity and 54-55% similarity with the human genes.

    Orthologs and Alignments from DRSC
    DIOPT - DRSC Integrative Ortholog Prediction Tool - Click the link below to search for orthologs in Humans
    Gene Snapshot
    Copper transporter 1B (Ctr1B) encodes a protein that ensures copper uptake in the intestine. Ctr1B transcription is upregulated under conditions of copper depletion via the metal-responsive transcription factor encoded by MTF-1. [Date last reviewed: 2019-03-07]
    Cellular component (GO)
    Gene Groups / Pathways
    Comments on ortholog(s)

    Low- to moderate-scoring ortholog of human genes SLC31A1 and SLC31A2 (3 Drosophila to 2 human). Dmel\Ctr1B is the most highly expressed in larval and adult digestive system and fat body. It shares 26-38% identity and 47-54% similarity with the human genes.

    Orthologs and Alignments from DRSC
    DIOPT - DRSC Integrative Ortholog Prediction Tool - Click the link below to search for orthologs in Humans
    Other Genes Used: Viral, Bacterial, Synthetic (0)
      Summary of Physical Interactions (0 groups)
      Alleles Reported to Model Human Disease (Disease Ontology) (4 alleles)
      Models Based on Experimental Evidence ( 1 )
      Allele
      Disease
      Evidence
      References
      Modifiers Based on Experimental Evidence ( 1 )
      Allele
      Disease
      Interaction
      References
      Models Based on Experimental Evidence ( 1 )
      Allele
      Disease
      Evidence
      References
      Modifiers Based on Experimental Evidence ( 1 )
      Allele
      Disease
      Interaction
      References
      Alleles Representing Disease-Implicated Variants
      Genetic Tools, Stocks and Reagents
      Sources of Stocks
      Contact lab of origin for a reagent not available from a public stock center.
      Bloomington Stock Center Disease Page
      Related mammalian, viral, bacterial, or synthetic transgenes
      Allele
      Transgene
      Publicly Available Stocks
      Selected Drosophila transgenes
      Allele
      Transgene
      Publicly Available Stocks
      RNAi constructs available
      Allele
      Transgene
      Publicly Available Stocks
      Selected Drosophila classical alleles
      Allele
      Allele class
      Mutagen
      Publicly Available Stocks
      loss of function allele
      P-element activity
      References (9)