Denigma: Factor

bchs

Symbol: bchs
Name: blue cheese
Entrez gene ID: 33819
Ensembl gene ID: FBgn0043362
Species: Fly (Taxid: 7227)

Functional description:
blue cheese; blue cheese [Source:FlyBase gene name;Acc:FBgn0043362] [Ensembl]; The gene blue cheese is referred to in FlyBase by the symbol Dmel\bchs (CG14001, FBgn0043362). It is a protein_coding_gene from Drosophila melanogaster. An electronic pipeline based on InterPro domains suggests that it has the molecular function: metal ion binding. There is experimental evidence that it is involved in the biological process: chaeta development; regulation of protein ubiquitination; regulation of synapse organization; determination of adult lifespan; compound eye development; axonogenesis. 30 alleles are reported. The phenotypes of these alleles are annotated with 19 unique terms, many of which group under: organ system subdivision; organ system; adult segment; external compound sense organ; cell part; peripheral nervous system; adult; cell projection part; imaginal precursor; integumentary plate. It has one annotated transcript and one annotated polypeptide. Protein features are: Armadillo-like helical; Armadillo-type fold; BEACH domain; PH-BEACH domain; WD40 repeat; WD40 repeat 2; WD40 repeat, conserved site; WD40 repeat, subgroup; WD40 repeat-like-containing domain; WD40-repeat-containing domain; WD40/YVTN repeat-like-containing domain; Zinc finger, FYVE-related; Zinc finger, FYVE-type; Zinc finger, FYVE/PHD-type; Zinc finger, RING/FYVE/PHD-type. Summary of modENCODE Temporal Expression Profile: Temporal profile ranges from a peak of moderate expression to a trough of low expression. Peak expression observed within 06-24 hour embryonic stages, during late larval stages, at stages throughout the pupal period, in adult male stages. [FlyBase]

Observation:

Loss of function mutation in bchs results in a 40-45% decrease in mean lifespan and is associated with age-related neurodegenerative phenotype with reduced CNS size and altered morphology as well as accumulation of insoluble ubiquinated proteins and amyloid precursor-like proteins along with an increase in neuronal apoptosis. No pronounced developmental defects were observed and young adults have normal behaviours, indicating that the bchs gene is essential for normal adult survival and longevity [12598614].

bchs mutation reduces mean lifespan by 28 - 54% and maximum lifespan by 24 - 46% [17435236].

Alfy (autophagy-linked FYVE protein) is the conserved human bchs homolog [15292400].

Interventions:

bchs mutation -28 to -54% -24 to -46%

Assays: Organismal Lifespan
Mean: -28 to -54
Maximum: -24 to -46

Classification:

Gerontogene

Positive Gerontogene

References:

12598614: blue cheese mutations define a novel, conserved gene involved in progressive neural degeneration.

17435236: Genetic modifiers of the Drosophila blue cheese gene link defects in lysosomal transport with decreased life span and altered ubiquitinated-protein profiles.

15292400: Alfy, a novel FYVE-domain-containing protein associated with protein granules and autophagic membranes.

Aging Relevance Analysis/Source: