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FOXL1 forkhead box L1 [ Homo sapiens (human) ]

Gene ID: 2300, updated on 13-Mar-2020

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
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
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

Genomic context

See FOXL1 in Genome Data Viewer
Location:
16q24.1
Exon count:
1
Annotation release Status Assembly Chr Location
109.20200228 current GRCh38.p13 (GCF_000001405.39) 16 NC_000016.10 (86578549..86583478)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (86612115..86615304)

Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene methenyltetrahydrofolate synthetase domain containing Neighboring gene uncharacterized protein FLJ30679 Neighboring gene FOXC2 antisense RNA 1 Neighboring gene forkhead box C2 Neighboring gene long intergenic non-protein coding RNA 2189 Neighboring gene long intergenic non-protein coding RNA 2188

Genomic regions, transcripts, and products

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

NHGRI GWAS Catalog

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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
DNA binding IDA
Inferred from Direct Assay
more info
PubMed 
DNA binding, bending NAS
Non-traceable Author Statement
more info
PubMed 
DNA-binding transcription factor activity ISS
Inferred from Sequence or Structural Similarity
more info
 
DNA-binding transcription factor activity, RNA polymerase II-specific IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
DNA-binding transcription factor activity, RNA polymerase II-specific ISA
Inferred from Sequence Alignment
more info
 
DNA-binding transcription factor activity, RNA polymerase II-specific ISM
Inferred from Sequence Model
more info
PubMed 
sequence-specific DNA binding IDA
Inferred from Direct Assay
more info
PubMed 
Process Evidence Code Pubs
Peyer's patch morphogenesis IEA
Inferred from Electronic Annotation
more info
 
anatomical structure morphogenesis IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cell differentiation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
heart development IMP
Inferred from Mutant Phenotype
more info
PubMed 
multicellular organism development NAS
Non-traceable Author Statement
more info
PubMed 
proteoglycan biosynthetic process ISS
Inferred from Sequence or Structural Similarity
more info
 
regulation of Wnt signaling pathway ISS
Inferred from Sequence or Structural Similarity
more info
 
regulation of transcription by RNA polymerase II IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
visceral mesoderm-endoderm interaction involved in midgut development ISS
Inferred from Sequence or Structural Similarity
more info
 
Component Evidence Code Pubs
nuclear chromatin ISA
Inferred from Sequence Alignment
more info
 
nucleus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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)

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)

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
    UniProtKB/TrEMBL
    Q498Y4
    Related
    ENSP00000326272.3, ENST00000320241.4
    Conserved Domains (1) summary
    smart00339
    Location:49137
    FH; FORKHEAD

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000016.10 Reference GRCh38.p13 Primary Assembly

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