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flightless I homolog (Drosophila) OKDB#: 4870
 Symbols: FLII Species: human
 Synonyms: FLI, FLIL, Fli1,  Locus: 17p11.2 in Homo sapiens


For retrieval of Nucleotide and Amino Acid sequences please go to: OMIM Entrez Gene
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General Comment NCBI Summary: This gene encodes a protein with a gelsolin-like actin binding domain and an N-terminal leucine-rich repeat-protein protein interaction domain. The protein is similar to a Drosophila protein involved in early embryogenesis and the structural organization of indirect flight muscle. The gene is located within the Smith-Magenis syndrome region on chromosome 17. [provided by RefSeq, Jul 2008]
General function
Comment
Cellular localization Nuclear
Comment
Ovarian function Ovulation
Comment
Expression regulated by
Comment
Ovarian localization Granulosa
Comment The ISWI ATPase Snf2l Is Required for Superovulation and Regulates Fgl2 in Differentiating Mouse Granulosa Cells. Ppin D et al. Imitation Switch (ISWI) proteins are catalytic subunits of chromatin remodeling complexes that alter nucleosome positioning by hydrolyzing ATP to regulate access to DNA. In mice there are two paralogs, SNF2-homolog (SNF2H) and SNF2-like (SNF2L), which participate in different complexes and have contrasting patterns of expression. Here we investigate the role of SNF2L in ovaries by characterizing a mouse bearing an inactivating deletion of exon 6 which disrupts the ATPase domain. Snf2l mutant mice produce significantly fewer eggs than control mice when superovulated. Gonadotropin stimulation leads to a significant deficit in secondary follicles and an increase in abnormal antral follicles. Mutant females also fail to induce Fibrinogen-like 2 (Fgl2) in response to human chorionic gonadotropin (hCG), while overexpression of SNF2L is sufficient to drive its expression in granulosa cells. SNF2L is also shown to directly interact with the nuclear receptor co-activator Flightless I (FLI-I) as shown by immunoprecipitation. These results begin to establish a role for SNF2L in the precise coordination of gene expression in granulosa cells during folliculogenesis, and its broader implications in fertility.
Follicle stages Preovulatory
Comment
Phenotypes
Mutations 0 mutations
Genomic Region show genomic region
Phenotypes and GWAS show phenotypes and GWAS
Links
OMIM (Online Mendelian Inheritance in Man: an excellent source of general gene description and genetic information.)
OMIM \ Animal Model
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created: April 30, 2013, 10:38 a.m. by: hsueh   email:
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last update: April 30, 2013, 10:41 a.m. by: hsueh    email:



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