FB2025_05 , released December 11, 2025
Human Disease Model Report: neuromuscular disease, MICU1-related
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General Information
Name
neuromuscular disease, MICU1-related
FlyBase ID
FBhh0000845
Disease Ontology Term
Parent Disease
OMIM
Overview

The human gene mitochondrial calcium uptake protein 1 (MICU1) is implicated in myopathy with extrapyramidal signs (MIM:615673; FBhh0000844) and is postulated to be implicated in several other neuromuscular diseases (FBrf0234829). MICU1 encodes a key regulator of mitochondrial calcium uniporter complex, acting as a concentration-dependent activator or inhibitor of mitochondrial calcium uptake. There is single high-scoring ortholog in Drosophila, also designated MICU1, for which RNAi-targeting constructs and an allele caused by insertional mutagenesis have been generated. A second Drosophila gene, CG4704 is a less closely related ortholog of human MICU1.

The human MICU1 gene has not been introduced into flies.

RNAi-effected knockdown of Dmel\MICU1 in dopaminergic and serotonergic neurons results in shortened lifespan and impaired climbing ability. RNAi directed against MICU1 in the eye results in fused and disorganized ommatidia; this phenotype provides an efficient assay for genetic interactions.

[updated Jul. 2018 by FlyBase; FBrf0222196]

Disease Summary Information
Disease Summary: neuromuscular disease, MICU1-related
OMIM report
Human gene(s) implicated
Symptoms and phenotype
Genetics
Cellular phenotype and pathology
Molecular information

Mitochondrial calcium uptake protein 1 (MICU1) encodes a key regulator of mitochondrial calcium uniporter (MCU) that senses calcium level via its EF-hand domains. MICU1 acts both as an activator or inhibitor of mitochondrial calcium uptake: acts as a gatekeeper of MCU at low concentration of calcium, preventing channel opening; enhances MCU opening at high calcium concentration, allowing a rapid response of mitochondria to calcium signals generated in the cytoplasm. [PDB, http://www.rcsb.org/pdb/protein/Q9BPX6 2018.07.17]

(FlyBase Curators, 2013-)
External links
Disease synonyms
Ortholog Information
Human gene(s) in FlyBase
    Human gene (HGNC)
    Symbol / Name
    MICU1; mitochondrial calcium uptake 1
    D. melanogaster ortholog (based on DIOPT)
    Dmel\MICU1
    (DIOPT, 2013-)
    Dmel\CG4704
    (DIOPT, 2013-)
    Comments on ortholog(s)

    One to many: 1 human to 2 Drosophila.

    Other mammalian ortholog(s) used
      D. melanogaster Gene Information (1)
      Dmel\MICU1
      Gene Snapshot
      Contributions welcome
      Molecular function (GO)
      Cellular component (GO)
      Gene Groups / Pathways
      Comments on ortholog(s)

      High-scoring ortholog of human MICU1 (2 Drosophila to 1 human). Dmel\MICU1 shares 48% identity and 64% similarity with the human gene.

      Orthologs and Alignments from DRSC
      DIOPT - DRSC Integrative Ortholog Prediction Tool - Click the link below to search for orthologs in Humans
      H. sapiens (Human)
      Other Genes Used: Viral, Bacterial, Synthetic (0)
        Summary of Physical Interactions (0 groups)
        Alleles Reported to Model Human Disease (Disease Ontology) (1 alleles)
        MICU1
        Models Based on Experimental Evidence ( 1 )
        Allele
        Disease
        Evidence
        References
        MICU1GD4927
        model of  myopathy with extrapyramidal signs
        CEA
        (M'Angale and Staveley, 2017)
        Modifiers Based on Experimental Evidence ( 1 )
        Allele
        Disease
        Interaction
        References
        MICU1GD4927
        model of  myopathy with extrapyramidal signs
        is ameliorated by BuffyUAS.cQa
        (M'Angale and Staveley, 2017)
        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
        MICU1GD4927
        P{GD4927}
        w1118; P{GD4927}v49349
        MICU1KK101920
        P{KK101920}
        P{KK101920}VIE-260B
        MICU1HMS02302
        P{TRiP.HMS02302}
        y1 sc* v1 sev21; P{TRiP.HMS02302}attP2
        Selected Drosophila classical alleles
        Allele
        Allele class
        Mutagen
        Publicly Available Stocks
        MICU132
        amorphic allele - molecular evidence
        P-element activity
        References (5)