Human Gene FLII (uc002gsr.2) Description and Page Index
Description: Homo sapiens flightless I homolog (Drosophila) (FLII), transcript variant 1, mRNA. RefSeq Summary (NM_002018): 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]. Transcript (Including UTRs) Position: hg19 chr17:18,148,131-18,162,230 Size: 14,100 Total Exon Count: 30 Strand: - Coding Region Position: hg19 chr17:18,148,452-18,162,004 Size: 13,553 Coding Exon Count: 30
ID:FLII_HUMAN DESCRIPTION: RecName: Full=Protein flightless-1 homolog; FUNCTION: May play a role as coactivator in transcriptional activation by hormone-activated nuclear receptors (NR) and acts in cooperation with NCOA2 and CARM1. Involved in estrogen hormone signaling. Involved in early embryonic development (By similarity). May play a role in regulation of cytoskeletal rearrangements involved in cytokinesis and cell migration. SUBUNIT: Interacts with actin, ACTL6A, NCOA2, CARM1 and MYD88. Interacts with LRRFIP1 and LRRFIP2. Upon LPS stimulation, LRRFIP2 competes for MYD88-binding. LRRFIP1 constitutively blocks the interaction with MyD88, even in the absence of LPS. Interacts with the nuclear receptors ESR1 and THRB. Interacts with SGK3. INTERACTION: Q32MZ4:LRRFIP1; NbExp=2; IntAct=EBI-351549, EBI-1369100; SUBCELLULAR LOCATION: Nucleus (By similarity). Cytoplasm, cytoskeleton (By similarity). Cytoplasm, cytoskeleton, centrosome (By similarity). Note=Colocalizes to actin-rich structures in blastocysts and, together with HRAS1, RHOA and CDC42, in migrating fibroblasts. Localizes to centrosomes (By similarity). TISSUE SPECIFICITY: Strongest expression in skeletal muscle with high expression also in the heart and lung. DISEASE: Deletion of the FLII gene may be a cause of Smith-Magenis syndrome (SMS) [MIM:182290]. It is a contiguous gene deletion syndrome involving developmental abnormalities and mental retardation. The spectrum of clinical findings includes short stature, brachydactyly, developmental delay, dysmorphic features, sleep disturbances, and behavioral problems. SIMILARITY: Contains 5 gelsolin-like repeats. SIMILARITY: Contains 15 LRR (leucine-rich) repeats.
Genetic Association Studies of Complex Diseases and Disorders
Genetic Association Database (archive): FLII CDC HuGE Published Literature: FLII
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
SCOP Domains: 52047 - RNI-like 52058 - L domain-like 52075 - Outer arm dynein light chain 1 55753 - Actin depolymerizing proteins 82754 - C-terminal, gelsolin-like domain of Sec23/24
ModBase Predicted Comparative 3D Structure on Q13045
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.
Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.