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Aliases for FLII Gene

Aliases for FLII Gene

  • Flightless I Actin Binding Protein 2 3 5
  • FLIL 3 4
  • Flightless I (Drosophila) Homolog 2
  • Flightless I Homolog (Drosophila) 2
  • Flightless I Homolog 3
  • Fli1 3
  • FLI 3

External Ids for FLII Gene

Previous GeneCards Identifiers for FLII Gene

  • GC17M018393
  • GC17M019740
  • GC17M018091
  • GC17M018348
  • GC17M018088
  • GC17M017901
  • GC17M018148

Summaries for FLII Gene

Entrez Gene Summary for FLII Gene

  • 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]

GeneCards Summary for FLII Gene

FLII (Flightless I Actin Binding Protein) is a Protein Coding gene. Diseases associated with FLII include smith-magenis syndrome and ewing sarcoma. GO annotations related to this gene include actin binding. An important paralog of this gene is VIL1.

UniProtKB/Swiss-Prot for FLII Gene

  • 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, by inhibiting Rac1-dependent paxillin phosphorylation.

Gene Wiki entry for FLII Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for FLII Gene

Genomics for FLII Gene

Regulatory Elements for FLII Gene

Promoters for FLII Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around FLII on UCSC Golden Path with GeneCards custom track

Genomic Location for FLII Gene

Chromosome:
17
Start:
18,244,815 bp from pter
End:
18,258,916 bp from pter
Size:
14,102 bases
Orientation:
Minus strand

Genomic View for FLII Gene

Genes around FLII on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
FLII Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for FLII Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for FLII Gene

Proteins for FLII Gene

  • Protein details for FLII Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q13045-FLII_HUMAN
    Recommended name:
    Protein flightless-1 homolog
    Protein Accession:
    Q13045
    Secondary Accessions:
    • B4DIL0
    • F5H407
    • J3QLG3

    Protein attributes for FLII Gene

    Size:
    1269 amino acids
    Molecular mass:
    144751 Da
    Quaternary structure:
    • 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.
    SequenceCaution:
    • Sequence=BAG58522.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};

    Alternative splice isoforms for FLII Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for FLII Gene

Proteomics data for FLII Gene at MOPED

Post-translational modifications for FLII Gene

  • Ubiquitination at Lys 21, Lys 730, Lys 746, Lys 802, Lys 832, Lys 836, Lys 1029, Lys 1035, and Lys 1162
  • Modification sites at PhosphoSitePlus

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for FLII (FLI)

No data available for DME Specific Peptides for FLII Gene

Domains & Families for FLII Gene

Gene Families for FLII Gene

Suggested Antigen Peptide Sequences for FLII Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q13045

UniProtKB/Swiss-Prot:

FLII_HUMAN :
  • Contains 5 gelsolin-like repeats.
Similarity:
  • Contains 5 gelsolin-like repeats.
  • Contains 15 LRR (leucine-rich) repeats.
genes like me logo Genes that share domains with FLII: view

Function for FLII Gene

Molecular function for FLII Gene

GENATLAS Biochemistry:
Drosophila flightless (fli) homolog 1,highly expressed in muscle,overlapping 3end of LLGL1,constantly deleted in Smith-Magenis syndrome (SMCR),member of gelsolin and LRR family
UniProtKB/Swiss-Prot 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, by inhibiting Rac1-dependent paxillin phosphorylation.

Gene Ontology (GO) - Molecular Function for FLII Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003779 actin binding IDA 9525888
genes like me logo Genes that share ontologies with FLII: view
genes like me logo Genes that share phenotypes with FLII: view

Human Phenotype Ontology for FLII Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for FLII Gene

MGI Knock Outs for FLII:

Animal Model Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for FLII Gene

Localization for FLII Gene

Subcellular locations from UniProtKB/Swiss-Prot for FLII Gene

Nucleus. Cytoplasm, cytoskeleton. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome. Cell junction, focal adhesion. Note=Colocalizes to actin-rich structures in blastocysts and, together with HRAS, RHOA and CDC42, in migrating fibroblasts. Localizes to centrosomes (By similarity). {ECO:0000250}.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for FLII Gene COMPARTMENTS Subcellular localization image for FLII gene
Compartment Confidence
cytoskeleton 5
nucleus 5
cytosol 4
peroxisome 1
plasma membrane 1

Gene Ontology (GO) - Cellular Components for FLII Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IDA --
genes like me logo Genes that share ontologies with FLII: view

Pathways & Interactions for FLII Gene

SuperPathways for FLII Gene

No Data Available

SIGNOR curated interactions for FLII Gene

Is activated by:

Gene Ontology (GO) - Biological Process for FLII Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0051014 actin filament severing IEA --
genes like me logo Genes that share ontologies with FLII: view

No data available for Pathways by source for FLII Gene

Drugs & Compounds for FLII Gene

(1) Drugs for FLII Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
genes like me logo Genes that share compounds with FLII: view

Transcripts for FLII Gene

Unigene Clusters for FLII Gene

Flightless I homolog (Drosophila):
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for FLII Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6a · 6b · 6c ^ 7 ^ 8a · 8b · 8c · 8d ^ 9a · 9b · 9c ^ 10 ^ 11a · 11b ^ 12 ^ 13 ^ 14a · 14b ^ 15 ^ 16 ^ 17 ^
SP1:
SP2:
SP3: -
SP4:
SP5: - - - - - - - - - - -
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:
SP12:
SP13:
SP14:
SP15:
SP16:

ExUns: 18a · 18b ^ 19a · 19b ^ 20 ^ 21a · 21b ^ 22 ^ 23 ^ 24a · 24b ^ 25a · 25b · 25c ^ 26a · 26b ^ 27a · 27b · 27c ^ 28 ^ 29a · 29b ^ 30 ^ 31a · 31b ^ 32a ·
SP1: - -
SP2: - -
SP3:
SP4:
SP5: - - - -
SP6: -
SP7: -
SP8:
SP9:
SP10:
SP11:
SP12: -
SP13:
SP14:
SP15: - -
SP16:

Relevant External Links for FLII Gene

GeneLoc Exon Structure for
FLII
ECgene alternative splicing isoforms for
FLII

Expression for FLII Gene

mRNA expression in normal human tissues for FLII Gene

mRNA differential expression in normal tissues according to GTEx for FLII Gene

This gene is overexpressed in Muscle - Skeletal (x4.5).

Protein differential expression in normal tissues from HIPED for FLII Gene

This gene is overexpressed in Peripheral blood mononuclear cells (19.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for FLII Gene



SOURCE GeneReport for Unigene cluster for FLII Gene Hs.513984

mRNA Expression by UniProt/SwissProt for FLII Gene

Q13045-FLII_HUMAN
Tissue specificity: Strongest expression in skeletal muscle with high expression also in the heart and lung.
genes like me logo Genes that share expression patterns with FLII: view

Protein tissue co-expression partners for FLII Gene

- Elite partner

Primer Products

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery for FLII Gene

Orthologs for FLII Gene

This gene was present in the common ancestor of animals.

Orthologs for FLII Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia FLII 35
  • 90.46 (n)
  • 94.55 (a)
FLII 36
  • 94 (a)
OneToOne
dog
(Canis familiaris)
Mammalia FLII 35
  • 90.95 (n)
  • 96.56 (a)
FLII 36
  • 96 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Flii 35
  • 88.47 (n)
  • 95.11 (a)
Flii 16
Flii 36
  • 95 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia FLII 35
  • 99.19 (n)
  • 99.29 (a)
FLII 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Flii 35
  • 88.2 (n)
  • 94.87 (a)
oppossum
(Monodelphis domestica)
Mammalia FLII 36
  • 83 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia FLII 36
  • 83 (a)
OneToOne
chicken
(Gallus gallus)
Aves FLII 35
  • 82.9 (n)
  • 87.75 (a)
FLII 36
  • 88 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia FLII 36
  • 86 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia flii 35
  • 76.81 (n)
  • 83.16 (a)
zebrafish
(Danio rerio)
Actinopterygii flii 35
  • 73.95 (n)
  • 83.48 (a)
flii 36
  • 84 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta fliI 37
  • 56 (a)
fliI 35
  • 62.06 (n)
  • 57.84 (a)
fliI 36
  • 57 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP011292 35
  • 62.76 (n)
  • 57.75 (a)
worm
(Caenorhabditis elegans)
Secernentea sup-5 37
  • 49 (a)
fli-1 35
  • 51.63 (n)
  • 51.96 (a)
fli-1 36
  • 51 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea CSA.10255 36
  • 61 (a)
OneToOne
Species with no ortholog for FLII:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for FLII Gene

ENSEMBL:
Gene Tree for FLII (if available)
TreeFam:
Gene Tree for FLII (if available)

Paralogs for FLII Gene

Paralogs for FLII Gene

genes like me logo Genes that share paralogs with FLII: view

Variants for FLII Gene

Sequence variations from dbSNP and Humsavar for FLII Gene

SNP ID Clin Chr 17 pos Sequence Context AA Info Type
VAR_029258 -
rs2071241 -- 18,253,227(-) CCACC(C/T)TGTGG intron-variant
rs2071242 -- 18,251,196(-) CCCCA(A/G)CTCCA intron-variant
rs2473657 -- 18,249,987(+) GTGGT(A/G)GCACA intron-variant
rs2605139 -- 18,247,333(+) GTCCC(A/C)ATTCT reference, missense

Structural Variations from Database of Genomic Variants (DGV) for FLII Gene

Variant ID Type Subtype PubMed ID
nsv155 OTHER Inversion 15895083
nsv499114 OTHER Inversion 21111241
dgv3078n71 CNV Loss 21882294
nsv9503 CNV Gain 18304495
nsv907776 CNV Loss 21882294
nsv907777 CNV Loss 21882294

Variation tolerance for FLII Gene

Residual Variation Intolerance Score: 8.92% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.88; 59.03% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for FLII Gene

HapMap Linkage Disequilibrium report
FLII

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for FLII Gene

Disorders for FLII Gene

MalaCards: The human disease database

(3) MalaCards diseases for FLII Gene - From: Orphanet, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
smith-magenis syndrome
  • smith magenis syndrome
ewing sarcoma
  • neuroepithelioma
bejel
  • njovera
- elite association - COSMIC cancer census association via MalaCards
Search FLII in MalaCards View complete list of genes associated with diseases

Relevant External Links for FLII

Genetic Association Database (GAD)
FLII
Human Genome Epidemiology (HuGE) Navigator
FLII
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
FLII
genes like me logo Genes that share disorders with FLII: view

No data available for UniProtKB/Swiss-Prot and Genatlas for FLII Gene

Publications for FLII Gene

  1. Identification of Flightless-I as a substrate of the cytokine- independent survival kinase CISK. (PMID: 19293151) Xu J. … Songyang Z. (J. Biol. Chem. 2009) 3 4 23 67
  2. The human homologue of the Drosophila melanogaster flightless-I gene (flil) maps within the Smith-Magenis microdeletion critical region in 17p11.2. (PMID: 7825574) Chen K.S. … Lupski J.R. (Am. J. Hum. Genet. 1995) 2 3 23
  3. Recruitment of the SWI/SNF chromatin remodeling complex to steroid hormone-regulated promoters by nuclear receptor coactivator flightless-I. (PMID: 19720835) Jeong K.W. … Stallcup M.R. (J. Biol. Chem. 2009) 3 23
  4. Flightless I: an actin-remodelling protein and an important negative regulator of wound repair. (PMID: 17526423) Kopecki Z. … Cowin A.J. (Int. J. Biochem. Cell Biol. 2008) 3 23
  5. Flightless-I, a gelsolin family member and transcriptional regulator, preferentially binds directly to activated cytosolic CaMK-II. (PMID: 18588881) Seward M.E. … Tombes R.M. (FEBS Lett. 2008) 3 23

Products for FLII Gene

Sources for FLII Gene

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