This gene encodes a member of the forkhead/winged helix-box (FOX) family of transcription factors. FOX transcription factors are characterized by a distinct DNA-binding forkhead domain and play critical roles in the regulation of multiple processes including metabolism, cell proliferation and gene expression during ontogenesis. [provided by RefSeq, Nov 2012] See more...

Aliases for FOXL1 Gene

Aliases for FOXL1 Gene

  • Forkhead Box L1 2 3 5
  • FREAC7 2 3 4
  • Forkhead-Related Transcription Factor 7 3 4
  • Forkhead-Related Protein FKHL11 3 4
  • Forkhead Box Protein L1 3 4
  • FKHL11 3 4
  • FKH6 2 3
  • Forkhead-Like 11 3
  • FREAC-7 4
  • FOXL1 5

External Ids for FOXL1 Gene

Previous HGNC Symbols for FOXL1 Gene

  • FKHL11

Previous GeneCards Identifiers for FOXL1 Gene

  • GC16U990020
  • GC16P087645
  • GC16P086353
  • GC16P086393
  • GC16P085169
  • GC16P086612
  • GC16P072351

Summaries for FOXL1 Gene

Entrez Gene Summary for FOXL1 Gene

  • This gene encodes a member of the forkhead/winged helix-box (FOX) family of transcription factors. FOX transcription factors are characterized by a distinct DNA-binding forkhead domain and play critical roles in the regulation of multiple processes including metabolism, cell proliferation and gene expression during ontogenesis. [provided by RefSeq, Nov 2012]

GeneCards Summary for FOXL1 Gene

FOXL1 (Forkhead Box L1) is a Protein Coding gene. Diseases associated with FOXL1 include Lymphedema-Distichiasis Syndrome and Hypoplastic Left Heart Syndrome. Among its related pathways are Ectoderm Differentiation. Gene Ontology (GO) annotations related to this gene include DNA-binding transcription factor activity and DNA-binding transcription factor activity, RNA polymerase II-specific. An important paralog of this gene is FOXC1.

UniProtKB/Swiss-Prot Summary for FOXL1 Gene

  • Transcription factor required for proper proliferation and differentiation in the gastrointestinal epithelium. Target gene of the hedgehog (Hh) signaling pathway via GLI2 AND GLI3 transcription factors (By similarity).

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for FOXL1 Gene

Genomics for FOXL1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for FOXL1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around FOXL1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for FOXL1

Top Transcription factor binding sites by QIAGEN in the FOXL1 gene promoter:
  • C/EBPalpha
  • MyoD
  • Pax-4a
  • PPAR-gamma2
  • ZID

Genomic Locations for FOXL1 Gene

Latest Assembly
chr16:86,576,368-86,583,478
(GRCh38/hg38)
Size:
7,111 bases
Orientation:
Plus strand

Previous Assembly
chr16:86,612,155-86,617,084
(GRCh37/hg19 by Entrez Gene)
Size:
4,930 bases
Orientation:
Plus strand

chr16:86,609,974-86,615,303
(GRCh37/hg19 by Ensembl)
Size:
5,330 bases
Orientation:
Plus strand

Genomic View for FOXL1 Gene

Genes around FOXL1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
FOXL1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for FOXL1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for FOXL1 Gene

Proteins for FOXL1 Gene

  • Protein details for FOXL1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q12952-FOXL1_HUMAN
    Recommended name:
    Forkhead box protein L1
    Protein Accession:
    Q12952
    Secondary Accessions:
    • Q17RR1
    • Q9H242

    Protein attributes for FOXL1 Gene

    Size:
    345 amino acids
    Molecular mass:
    36490 Da
    Quaternary structure:
    No Data Available

neXtProt entry for FOXL1 Gene

Post-translational modifications for FOXL1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for FOXL1 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for FOXL1 Gene

Domains & Families for FOXL1 Gene

Gene Families for FOXL1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins
  • Transcription factors

Suggested Antigen Peptide Sequences for FOXL1 Gene

GenScript: Design optimal peptide antigens:
  • Forkhead-related transcription factor 7 (FOXL1_HUMAN)
  • Forkhead box L1 (Q498Y4_HUMAN)
genes like me logo Genes that share domains with FOXL1: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for FOXL1 Gene

Function for FOXL1 Gene

Molecular function for FOXL1 Gene

UniProtKB/Swiss-Prot Function:
Transcription factor required for proper proliferation and differentiation in the gastrointestinal epithelium. Target gene of the hedgehog (Hh) signaling pathway via GLI2 AND GLI3 transcription factors (By similarity).

Phenotypes From GWAS Catalog for FOXL1 Gene

Gene Ontology (GO) - Molecular Function for FOXL1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000978 RNA polymerase II proximal promoter sequence-specific DNA binding IBA 21873635
GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific ISA --
GO:0003677 DNA binding IDA 7957066
GO:0003700 DNA-binding transcription factor activity ISS --
GO:0008301 DNA binding, bending NAS 7957066
genes like me logo Genes that share ontologies with FOXL1: view
genes like me logo Genes that share phenotypes with FOXL1: view

Animal Models for FOXL1 Gene

MGI Knock Outs for FOXL1:

Transcription Factor Targets for FOXL1 Gene

Selected GeneGlobe predicted Target genes for FOXL1

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for FOXL1

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology and HOMER Transcription for FOXL1 Gene

Localization for FOXL1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for FOXL1 Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for FOXL1 gene
Compartment Confidence
nucleus 5
extracellular 2
plasma membrane 1
cytoskeleton 1
mitochondrion 1
endoplasmic reticulum 1
cytosol 1

Gene Ontology (GO) - Cellular Components for FOXL1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000785 chromatin ISA --
GO:0005634 nucleus IEA,IC 7957066
genes like me logo Genes that share ontologies with FOXL1: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for FOXL1 Gene

Pathways & Interactions for FOXL1 Gene

PathCards logo

SuperPathways for FOXL1 Gene

SuperPathway Contained pathways
1 Ectoderm Differentiation
genes like me logo Genes that share pathways with FOXL1: view

Pathways by source for FOXL1 Gene

1 BioSystems pathway for FOXL1 Gene

Gene Ontology (GO) - Biological Process for FOXL1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006355 regulation of transcription, DNA-templated IEA --
GO:0006357 regulation of transcription by RNA polymerase II IBA 21873635
GO:0007275 multicellular organism development NAS 11078474
GO:0007495 visceral mesoderm-endoderm interaction involved in midgut development IEA,ISS --
GO:0007507 heart development IMP 21457232
genes like me logo Genes that share ontologies with FOXL1: view

No data available for SIGNOR curated interactions for FOXL1 Gene

Drugs & Compounds for FOXL1 Gene

No Compound Related Data Available

Transcripts for FOXL1 Gene

mRNA/cDNA for FOXL1 Gene

1 REFSEQ mRNAs :
3 NCBI additional mRNA sequence :
2 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for FOXL1

Alternative Splicing Database (ASD) splice patterns (SP) for FOXL1 Gene

No ASD Table

Relevant External Links for FOXL1 Gene

GeneLoc Exon Structure for
FOXL1

Expression for FOXL1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for FOXL1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for FOXL1 Gene

This gene is overexpressed in Artery - Aorta (x8.3), Artery - Tibial (x8.1), and Artery - Coronary (x7.4).

Protein differential expression in normal tissues from HIPED for FOXL1 Gene

This gene is overexpressed in Platelet (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for FOXL1 Gene



Protein tissue co-expression partners for FOXL1 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for FOXL1

SOURCE GeneReport for Unigene cluster for FOXL1 Gene:

Hs.533830

Evidence on tissue expression from TISSUES for FOXL1 Gene

  • Muscle(2.2)
genes like me logo Genes that share expression patterns with FOXL1: view

Primer products for research

No data available for mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for FOXL1 Gene

Orthologs for FOXL1 Gene

This gene was present in the common ancestor of animals.

Orthologs for FOXL1 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia FOXL1 29 30
  • 98.74 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia FOXL1 29 30
  • 88.41 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia FOXL1 29 30
  • 87.15 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Foxl1 29 16 30
  • 75.9 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia LOC687553 29
  • 75.68 (n)
Oppossum
(Monodelphis domestica)
Mammalia FOXL1 30
  • 58 (a)
OneToOne
Chicken
(Gallus gallus)
Aves FOXL1 29
  • 64.58 (n)
Lizard
(Anolis carolinensis)
Reptilia FOXL1 30
  • 40 (a)
OneToOne
Zebrafish
(Danio rerio)
Actinopterygii foxl1 30
  • 40 (a)
OneToOne
zgc63595 29
Fruit Fly
(Drosophila melanogaster)
Insecta croc 30
  • 20 (a)
OneToMany
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 30
  • 20 (a)
ManyToMany
Species where no ortholog for FOXL1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • 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)
  • Platypus (Ornithorhynchus anatinus)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • 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)
  • Tropical Clawed Frog (Silurana tropicalis)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)

Evolution for FOXL1 Gene

ENSEMBL:
Gene Tree for FOXL1 (if available)
TreeFam:
Gene Tree for FOXL1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for FOXL1: view image
Alliance of Genome Resources:
Additional Orthologs for FOXL1

Paralogs for FOXL1 Gene

(19) SIMAP similar genes for FOXL1 Gene using alignment to 3 proteins:

  • FOXL1_HUMAN
  • M0R279_HUMAN
  • Q498Y4_HUMAN
genes like me logo Genes that share paralogs with FOXL1: view

Variants for FOXL1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for FOXL1 Gene

SNP ID Clinical significance and condition Chr 16 pos Variation AA Info Type
rs537362211 Uncertain Significance: not specified 86,579,181(+) A/C
NM_005250.2(FOXL1):c.458A>C (p.Glu153Ala)
MISSENSE

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for FOXL1 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for FOXL1 Gene

Variant ID Type Subtype PubMed ID
dgv498n67 CNV gain 20364138
esv4262 OTHER complex 18987735
nsv1065605 CNV gain 25217958
nsv483044 CNV gain 15286789
nsv525024 CNV loss 19592680

Variation tolerance for FOXL1 Gene

Residual Variation Intolerance Score: 75.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.75; 33.14% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for FOXL1 Gene

Human Gene Mutation Database (HGMD)
FOXL1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
FOXL1
Leiden Open Variation Database (LOVD)
FOXL1

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for FOXL1 Gene

Disorders for FOXL1 Gene

MalaCards: The human disease database

(8) MalaCards diseases for FOXL1 Gene - From: COP and GCD

Disorder Aliases PubMed IDs
lymphedema-distichiasis syndrome
  • lphdst
hypoplastic left heart syndrome
  • hlhs
embryoma
  • blastoma
distichiasis
  • eyelashes, two rows of
pancreas, annular
  • annular pancreas
- elite association - COSMIC cancer census association via MalaCards
Search FOXL1 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for FOXL1

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with FOXL1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for FOXL1 Gene

Publications for FOXL1 Gene

  1. Cloning and characterization of seven human forkhead proteins: binding site specificity and DNA bending. (PMID: 7957066) Pierrou S … Carlsson P (The EMBO journal 1994) 2 3 4
  2. Mutational analysis of FOXL2 codon 134 in granulosa cell tumour of ovary and other human cancers. (PMID: 20198651) Kim MS … Lee SH (The Journal of pathology 2010) 3 40
  3. Twenty bone-mineral-density loci identified by large-scale meta-analysis of genome-wide association studies. (PMID: 19801982) Rivadeneira F … Genetic Factors for Osteoporosis (GEFOS) Consortium (Nature genetics 2009) 3 40
  4. Candidate gene analysis in primary lymphedema. (PMID: 18564921) Ferrell RE … Finegold DN (Lymphatic research and biology 2008) 3 40
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4

Products for FOXL1 Gene

Sources for FOXL1 Gene