FB2024_04 , released June 25, 2024
Human Disease Model Report: obesity, susceptibility to (postulated), SDK1-related
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General Information
Name
obesity, susceptibility to (postulated), SDK1-related
FlyBase ID
FBhh0001416
Disease Ontology Term
Parent Disease
OMIM
Overview

In a genomic study of variants associated with obesity in humans, rare variants associated with the gene SDK1 were identified. SDK1 encodes an adhesion molecule that contains multiple immunoglobulin-like domains and fibronectin type III domains. There is a single orthologous gene in Drosophila, sdk, for which multiple genetic reagents have been generated, including loss-of-function mutations, RNAi-targeting constructs, alleles caused by insertional mutagenesis, and over-expression constructs. Dmel\sdk is also orthologous to the human gene SDK2.

The human SDK1 gene has not been introduced into flies.

Animals homozygous for loss-of-function mutations of Dmel\sdk exhibit defects in adult eye development attributed to abnormal cell adhesion in the developing eye. Ubiquitous knockdown of sdk, effected by RNAi, results in a significant increase in triacylglyceride (TAG) level, measured as the ratio of TAG to protein.

[updated Dec. 2021 by FlyBase; FBrf0222196]

Disease Summary Information
Parent Disease Summary: obesity, susceptibility to (fly models overview)
Symptoms and phenotype

Obesity is an abnormal accumulation of body fat, usually 20% or more over an individual's ideal body weight. Obesity is associated with increased risk of illness, disability, and death. (http://medical-dictionary.thefreedictionary.com/obesity).

The development of obesity is recognized as having both genetic and environmental components (https://www.sciencelearn.org.nz/resources/203-obesity-genetic-or-environmental).

Specific Disease Summary: obesity, susceptibility to (postulated), SDK1-related
OMIM report
Human gene(s) implicated
Symptoms and phenotype
Genetics
Cellular phenotype and pathology
Molecular information

SDK1 encodes an adhesion molecule that contains multiple immunoglobulin-like domains and fibronectin type III domains. [Gene Cards, SDK1; 2021.12.14]

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

    Many to one: 2 human genes to 1 Drosophila gene.

    Other mammalian ortholog(s) used
      D. melanogaster Gene Information (1)
      Gene Snapshot
      sidekick (sdk) encodes a member of the immunoglobulin superfamily and is involved in epithelial remodeling and synapse formation. In epithelia, sdk localizes preferentially to tricellular adherens junctions, where three or more cells meet. It promotes actin branching and lengthening of cell-cell contact through interaction with the WAVE regulatory complex. Alternatively, it promotes contraction of cell-cell contacts through interaction with pyd, which in turn interacts with contractile actomyosin. [Date last reviewed: 2022-07-14]
      Molecular function (GO)
      Gene Groups / Pathways
        Comments on ortholog(s)

        High-scoring ortholog of human SDK1 and SDK2.

        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 (4 groups)
          protein-protein
          Interacting group
          Assay
          References
          anti bait coimmunoprecipitation, anti tag western blot, anti tag coimmunoprecipitation, western blot
          pull down, anti tag western blot
          pull down, western blot
          anti tag coimmunoprecipitation, anti tag western blot
          Alleles Reported to Model Human Disease (Disease Ontology) (1 alleles)
          Models Based on Experimental Evidence ( 1 )
          Allele
          Disease
          Evidence
          References
          Modifiers Based on Experimental Evidence ( 0 )
          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
          amorphic allele - molecular evidence
          P-element activity
          amorphic allele - genetic evidence
          Delta2-3 transposase
          loss of function allele
          gamma ray
          loss of function allele
          gamma ray
          loss of function allele
          gamma ray
          loss of function allele
          gamma ray
          amorphic allele - molecular evidence
          References (3)