FB2024_04 , released June 25, 2024
Human Disease Model Report: cancer, multiple, UBIAD1-related
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General Information
Name
cancer, multiple, UBIAD1-related
FlyBase ID
FBhh0001261
Disease Ontology Term
Parent Disease
OMIM
Overview

The human UBIAD1 gene is downregulated in several tumor types and has been described as a tumor suppressor gene. UBIAD1 plays a key role in biosynthesis of vitamin K2 and coenzyme Q10. There is single orthologous gene in Drosophila, heix, for which loss-of-function mutations, RNAi targeting constructs, and alleles caused by insertional mutagenesis have been.

The human UBIAD1 gene has not been introduced into flies.

Animals homozygous or hemizygous for loss of function alleles of Dmel\heix typically die in the larval or pupal stages. In larvae, phenotypes affecting the hematopoietic system, including lymph gland hypertrophy, hemocyte overproliferation and aberrant differentiation are observed. Melantotic masses in multiple tissues, especially lymph glands, are observed. By assaying formation of melantotic masses, this system has been used to assess therapeutic effects of vitamin K2 and to characterize the role of Ras/ERK signaling.

[updated Sep. 2020 by FlyBase; FBrf0222196]

Disease Summary Information
Disease Summary: cancer, multiple, UBIAD1-related
OMIM report
Human gene(s) implicated
Symptoms and phenotype
Genetics

The human UBIAD1 gene has been found to be downregulated in several tumor types and has been described as a tumor suppressor gene (FBrf0240845 and references cited therein).

Cellular phenotype and pathology
Molecular information

UBIAD1 encodes a protein involved in cholesterol and phospholipid metabolism. The UBIAD1 protein is a prenyltransferase that mediates the formation of menaquinone-4 (MK-4, a vitamin K2 isoform) and coenzyme Q10 (ubiquinone). [Gene Cards, UBIAD1; 2020.09.12]

External links
Disease synonyms
Ortholog Information
Human gene(s) in FlyBase
    Human gene (HGNC)
    D. melanogaster ortholog (based on DIOPT)
    Comments on ortholog(s)

    One to one: 1 human gene to 1 Drosophila gene.

    Other mammalian ortholog(s) used
      D. melanogaster Gene Information (1)
      Gene Snapshot
      heixuedian (heix) encodes a protein belonging to the UbiA prenyltransferase family that participates in the regulation of cholesterol. It is involved in signal transduction pathways such as JAK/STAT, Ras/MAPK, Toll, IMD, and Notch. It contributes to growth regulation, cell differentiation and apoptosis, antioxidation and neurodegeneration. [Date last reviewed: 2019-03-07]
      Molecular function (GO)
      Gene Groups / Pathways
      Comments on ortholog(s)

      High-scoring ortholog of UBIAD1 (1 Drosophila to 1 human). Dmel\heix shares 57% identity and 70% 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
      Other Genes Used: Viral, Bacterial, Synthetic (0)
        Summary of Physical Interactions (1 groups)
        protein-protein
        Interacting group
        Assay
        References
        experimental knowledge based
        Alleles Reported to Model Human Disease (Disease Ontology) (4 alleles)
        Models Based on Experimental Evidence ( 2 )
        Allele
        Disease
        Evidence
        References
        Modifiers Based on Experimental Evidence ( 4 )
        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
        ethyl methanesulfonate
        References (5)