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 

Page IndexSequence and LinksUniProtKB CommentsGenetic AssociationsMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsOther NamesModel InformationMethods
Data last updated: 2013-06-14

-  Sequence and Links to Tools and Databases
Genomic Sequence (chr17:18,148,131-18,162,230)mRNA (may differ from genome)Protein (1269 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
BioGPSCGAPEnsemblEntrez GeneExonPrimerGeneCards
neXtProtOMIMPubMedStanford SOURCEUniProtKBWikipedia

-  Comments and Description Text from UniProtKB
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

-  MalaCards Disease Associations
  MalaCards Gene Search: FLII
Diseases sorted by gene-association score: smith-magenis syndrome* (42), ewing sarcoma (5), bejel (3)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 89.40 RPKM in Muscle - Skeletal
Total median expression: 1958.63 RPKM

View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
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-  mRNA Secondary Structure of 3' and 5' UTRs
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -117.20226-0.519 Picture PostScript Text
3' UTR -99.79321-0.311 Picture PostScript Text

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.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR007122 - Gelsolin
IPR007123 - Gelsolin_dom
IPR001611 - Leu-rich_rpt
IPR025875 - Leu-rich_rpt_2_copies
IPR003591 - Leu-rich_rpt_typical-subtyp

Pfam Domains:
PF00626 - Gelsolin repeat
PF12799 - Leucine Rich repeats (2 copies)
PF13516 - Leucine Rich repeat
PF13855 - Leucine rich repeat

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.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologGenome BrowserGenome BrowserGenome BrowserGenome BrowserNo ortholog
Gene DetailsGene Details Gene DetailsGene Details 
Gene SorterGene Sorter Gene SorterGene Sorter 
 Protein SequenceProtein SequenceProtein SequenceProtein Sequence 

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0003779 actin binding
GO:0005515 protein binding
GO:0051015 actin filament binding

Biological Process:
GO:0006351 transcription, DNA-templated
GO:0006355 regulation of transcription, DNA-templated
GO:0007275 multicellular organism development
GO:0030036 actin cytoskeleton organization
GO:0051014 actin filament severing

Cellular Component:
GO:0005634 nucleus
GO:0005654 nucleoplasm
GO:0005737 cytoplasm
GO:0005815 microtubule organizing center
GO:0005829 cytosol
GO:0005856 cytoskeleton
GO:0005903 brush border
GO:0005925 focal adhesion
GO:0030054 cell junction

-  Descriptions from all associated GenBank mRNAs
  LF213983 - JP 2014500723-A/21486: Polycomb-Associated Non-Coding RNAs.
LF209094 - JP 2014500723-A/16597: Polycomb-Associated Non-Coding RNAs.
BC025300 - Homo sapiens flightless I homolog (Drosophila), mRNA (cDNA clone MGC:39265 IMAGE:4584634), complete cds.
U01184 - Human homolog of D. melanogaster flightless-I gene product mRNA, partial cds.
AK297836 - Homo sapiens cDNA FLJ51784 complete cds, highly similar to Protein flightless-1 homolog.
AK295655 - Homo sapiens cDNA FLJ50164 complete cds, highly similar to Protein flightless-1 homolog.
AK295814 - Homo sapiens cDNA FLJ50778 complete cds, highly similar to Protein flightless-1 homolog.
JD207055 - Sequence 188079 from Patent EP1572962.
AK310400 - Homo sapiens cDNA, FLJ17442.
JD045646 - Sequence 26670 from Patent EP1572962.
JD073722 - Sequence 54746 from Patent EP1572962.
JD384000 - Sequence 365024 from Patent EP1572962.
JD465989 - Sequence 447013 from Patent EP1572962.
JD480097 - Sequence 461121 from Patent EP1572962.
JD461731 - Sequence 442755 from Patent EP1572962.
DQ893621 - Synthetic construct clone IMAGE:100006251; FLH183884.01X; RZPDo839H09142D flightless I homolog (Drosophila) (FLII) gene, encodes complete protein.
DQ896850 - Synthetic construct Homo sapiens clone IMAGE:100011310; FLH183880.01L; RZPDo839H09141D flightless I homolog (Drosophila) (FLII) gene, encodes complete protein.
BC021885 - Homo sapiens, clone IMAGE:2901271, mRNA.
AB208864 - Homo sapiens mRNA for flightless I homolog variant protein.
LF326089 - JP 2014500723-A/133592: Polycomb-Associated Non-Coding RNAs.
BC017030 - Homo sapiens flightless I homolog (Drosophila), mRNA (cDNA clone IMAGE:3915427), partial cds.
LF326090 - JP 2014500723-A/133593: Polycomb-Associated Non-Coding RNAs.
LF326091 - JP 2014500723-A/133594: Polycomb-Associated Non-Coding RNAs.
LF326092 - JP 2014500723-A/133595: Polycomb-Associated Non-Coding RNAs.
LF326093 - JP 2014500723-A/133596: Polycomb-Associated Non-Coding RNAs.
LF326094 - JP 2014500723-A/133597: Polycomb-Associated Non-Coding RNAs.
LF326095 - JP 2014500723-A/133598: Polycomb-Associated Non-Coding RNAs.
MA449560 - JP 2018138019-A/21486: Polycomb-Associated Non-Coding RNAs.
MA561666 - JP 2018138019-A/133592: Polycomb-Associated Non-Coding RNAs.
MA561667 - JP 2018138019-A/133593: Polycomb-Associated Non-Coding RNAs.
MA561668 - JP 2018138019-A/133594: Polycomb-Associated Non-Coding RNAs.
MA561669 - JP 2018138019-A/133595: Polycomb-Associated Non-Coding RNAs.
MA561670 - JP 2018138019-A/133596: Polycomb-Associated Non-Coding RNAs.
MA561671 - JP 2018138019-A/133597: Polycomb-Associated Non-Coding RNAs.
MA561672 - JP 2018138019-A/133598: Polycomb-Associated Non-Coding RNAs.
MA444671 - JP 2018138019-A/16597: Polycomb-Associated Non-Coding RNAs.

-  Other Names for This Gene
  Alternate Gene Symbols: FLII_HUMAN, FLIL, NM_002018, NP_002009, Q13045, uc002gsr.1
UCSC ID: uc002gsr.2
RefSeq Accession: NM_002018
Protein: Q13045 (aka FLII_HUMAN)
CCDS: CCDS11192.1, CCDS58521.1, CCDS58522.1

-  Gene Model Information
category: coding nonsense-mediated-decay: no RNA accession: NM_002018.3
exon count: 30CDS single in 3' UTR: no RNA size: 4387
ORF size: 3810CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 7735.00frame shift in genome: no % Coverage: 99.32
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# strange splices: 0
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-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.