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FOXL1 forkhead box L1 [ Homo sapiens (human) ]

Gene ID: 2300, updated on 23-Nov-2023

Summary

Official Symbol
FOXL1provided by HGNC
Official Full Name
forkhead box L1provided by HGNC
Primary source
HGNC:HGNC:3817
See related
Ensembl:ENSG00000176678 MIM:603252; AllianceGenome:HGNC:3817
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
FKH6; FKHL11; FREAC7; OTSC11
Summary
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]
Orthologs
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Genomic context

See FOXL1 in Genome Data Viewer
Location:
16q24.1
Exon count:
1
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 16 NC_000016.10 (86578549..86583478)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 16 NC_060940.1 (92646860..92651789)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (86612155..86617084)

Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene ReSE screen-validated silencer GRCh37_chr16:86588698-86588911 Neighboring gene uncharacterized protein FLJ30679 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:86600570-86601154 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:86601155-86601738 Neighboring gene NANOG hESC enhancer GRCh37_chr16:86603947-86604448 Neighboring gene FOXC2 antisense RNA 1 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:86613015-86613636 Neighboring gene forkhead box C2 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:86643521-86644020 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:86644136-86644702 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:86655227-86655748 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:86679869-86680369 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr16:86697509-86698708 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7832 Neighboring gene ReSE screen-validated silencer GRCh37_chr16:86733288-86733475 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:86733737-86734644 Neighboring gene long intergenic non-protein coding RNA 2189 Neighboring gene long intergenic non-protein coding RNA 2188 Neighboring gene Sharpr-MPRA regulatory region 159

Genomic regions, transcripts, and products

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Otosclerosis 11
MedGen: CN375808 OMIM: 620576 GeneReviews: Not available
not available

EBI GWAS Catalog

Description
Genetic determinants of heel bone properties: genome-wide association meta-analysis and replication in the GEFOS/GENOMOS consortium.
EBI GWAS Catalog
Genome-wide meta-analysis identifies 56 bone mineral density loci and reveals 14 loci associated with risk of fracture.
EBI GWAS Catalog
Multistage genome-wide association meta-analyses identified two new loci for bone mineral density.
EBI GWAS Catalog
Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
EBI GWAS Catalog
Twenty bone-mineral-density loci identified by large-scale meta-analysis of genome-wide association studies.
EBI GWAS Catalog

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Gene Ontology Provided by GOA

Process Evidence Code Pubs
involved_in Peyer's patch morphogenesis IEA
Inferred from Electronic Annotation
more info
 
involved_in anatomical structure morphogenesis IBA
Inferred from Biological aspect of Ancestor
more info
 
involved_in cell differentiation IBA
Inferred from Biological aspect of Ancestor
more info
 
involved_in heart development IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in proteoglycan biosynthetic process ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in regulation of Wnt signaling pathway ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in regulation of transcription by RNA polymerase II IBA
Inferred from Biological aspect of Ancestor
more info
 
involved_in visceral mesoderm-endoderm interaction involved in midgut development ISS
Inferred from Sequence or Structural Similarity
more info
 
Component Evidence Code Pubs
part_of chromatin ISA
Inferred from Sequence Alignment
more info
 
located_in nucleus IC
Inferred by Curator
more info
PubMed 

General protein information

Preferred Names
forkhead box protein L1
Names
forkhead-like 11
forkhead-related protein FKHL11
forkhead-related transcription factor 7

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_032995.1 RefSeqGene

    Range
    5041..9970
    Download
    GenBank, FASTA, Sequence Viewer (Graphics), LRG_709

mRNA and Protein(s)

  1. NM_005250.3NP_005241.1  forkhead box protein L1

    See identical proteins and their annotated locations for NP_005241.1

    Status: REVIEWED

    Source sequence(s)
    AC009108, BC100027, BM675371
    Consensus CDS
    CCDS10959.1
    UniProtKB/Swiss-Prot
    Q12952, Q17RR1, Q9H242
    UniProtKB/TrEMBL
    Q498Y4
    Related
    ENSP00000326272.3, ENST00000320241.5
    Conserved Domains (1) summary
    smart00339
    Location:49137
    FH; FORKHEAD

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000016.10 Reference GRCh38.p14 Primary Assembly

    Range
    86578549..86583478
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060940.1 Alternate T2T-CHM13v2.0

    Range
    92646860..92651789
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)