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

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).

Additional gene information for FOXL1 Gene

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 for FOXL1 Gene

Promoters and enhancers for FOXL1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH16J086608 Enhancer 1 Ensembl ENCODE CraniofacialAtlas dbSUPER 32.3 +33.6 33639 3.8 NR2F1 NR2F6 ZNF644 POLR2A FOS NR2F2 TFAP4 JUND ZMYM3 FOXL1 FOXC2 MTHFSD RF00017-2184 AB372783
GH16J086553 Promoter/Enhancer 2.2 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas 7.6 -21.2 -21218 2.9 GTF3C2 SP1 RBPJ POLR2A ATF1 CREB1 HCFC1 MYC CC2D1A NFYC MTHFSD FLJ30679 lnc-C16orf95-11 piR-37234 piR-35125 piR-30449-061 ENSG00000270184 RNU1-103P RN7SL381P ENSG00000270020
GH16J086661 Enhancer 1.5 FANTOM5 ENCODE CraniofacialAtlas dbSUPER 9.1 +87.5 87494 4.9 SIN3A SMARCE1 POLR2A NR2F6 CREB1 ETV6 ZNF652 ZBTB33 NKRF ELF3 HSALNG0113327 LOC101928659 FOXC2 MTHFSD FOXL1 LINC02188 ENSG00000261161 GINS2
GH16J086618 Enhancer 0.4 ENCODE dbSUPER 29.6 +42.9 42942 1.4 EGR1 FOXL1 FOXC2 MTHFSD RF00017-2184 ENSG00000260387
GH16J086631 Enhancer 0.8 Ensembl ENCODE dbSUPER 16 +55.4 55433 1.2 POLR2A KLF4 FOXA2 CUX1 FOXL1 ENSG00000260387 HSALNG0113325 RF00017-2184
- 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 UCSC Golden Path with GeneCards custom track

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

Genomic Locations for FOXL1 Gene
chr16:86,576,368-86,582,160
(GRCh38/hg38)
Size:
5,793 bases
Orientation:
Plus strand
chr16:86,609,974-86,615,304
(GRCh37/hg19)
Size:
5,331 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

Protein Domains for FOXL1 Gene

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:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific ISM 19274049
GO:0003677 DNA binding IDA 7957066
GO:0003700 DNA-binding transcription factor activity ISS --
GO:0008301 DNA binding, bending NAS 7957066
GO:0043565 sequence-specific DNA binding IDA 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:

Animal Model Products

CRISPR Products

Transcription Factor Targets for FOXL1 Gene

Selected GeneGlobe predicted Target genes for FOXL1

Clone Products

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

Gene Ontology (GO) - Cellular Components for FOXL1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IC,IBA 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 ISS,IEA --
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) Additional mRNA sequences :
(3) Selected AceView cDNA sequences:
(2) Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Clone Products

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

No ASD Table

Relevant External Links for FOXL1 Gene

GeneLoc Exon Structure for
FOXL1
ECgene alternative splicing isoforms for
FOXL1

Expression for FOXL1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP 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

NURSA nuclear receptor signaling pathways regulating expression of FOXL1 Gene:

FOXL1

SOURCE GeneReport for Unigene cluster for FOXL1 Gene:

Hs.533830
genes like me logo Genes that share expression patterns with FOXL1: view

No data available for mRNA Expression by UniProt/SwissProt , Evidence on tissue expression from TISSUES 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 33 32
  • 98.74 (n)
OneToOne
dog
(Canis familiaris)
Mammalia FOXL1 33 32
  • 88.41 (n)
OneToOne
cow
(Bos Taurus)
Mammalia FOXL1 33 32
  • 87.15 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Foxl1 17 33 32
  • 75.9 (n)
rat
(Rattus norvegicus)
Mammalia LOC687553 32
  • 75.68 (n)
oppossum
(Monodelphis domestica)
Mammalia FOXL1 33
  • 58 (a)
OneToOne
chicken
(Gallus gallus)
Aves FOXL1 32
  • 64.58 (n)
lizard
(Anolis carolinensis)
Reptilia FOXL1 33
  • 40 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii foxl1 33
  • 40 (a)
OneToOne
zgc63595 32
fruit fly
(Drosophila melanogaster)
Insecta croc 33
  • 20 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 33
  • 20 (a)
ManyToMany
Species where no ortholog for FOXL1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya 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 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

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 from dbSNP and Humsavar for FOXL1 Gene

SNP ID Clin Chr 16 pos Variation AA Info Type
rs537362211 uncertain-significance, not specified 86,579,181(+) A/C coding_sequence_variant, missense_variant
rs1000471177 -- 86,580,677(+) C/T 3_prime_UTR_variant
rs1000574648 -- 86,577,249(+) T/G upstream_transcript_variant
rs1000683970 -- 86,581,662(+) C/T 3_prime_UTR_variant
rs1001362928 -- 86,577,925(+) C/A/T upstream_transcript_variant

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

SNP Genotyping and Copy Number Assay Products

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

Disorders for FOXL1 Gene

MalaCards: The human disease database

(5) MalaCards diseases for FOXL1 Gene - From: HGMD, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
lymphedema-distichiasis syndrome
  • lphdst
hypoplastic left heart syndrome
  • hlhs
distichiasis
  • eyelashes, two rows of
congenital hydrocephalus
  • hydrocephaly
hereditary lymphedema
  • milroy disease
- 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

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
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 56
  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 43 56
  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 43 56
  4. Candidate gene analysis in primary lymphedema. (PMID: 18564921) Ferrell RE … Finegold DN (Lymphatic research and biology 2008) 3 43 56
  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 56

Products for FOXL1 Gene

  • Boster Bio Antibodies for FOXL1
  • Boster Bio ELISA Kits for FOXL1

Sources for FOXL1 Gene