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    FOXL1 forkhead box L1 [ Homo sapiens (human) ]

    Gene ID: 2300, updated on 2-May-2024

    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
    NEW
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    Genomic context

    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 
    located_in nucleus IDA
    Inferred from Direct Assay
    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)

    NEW Try the new Transcript table

    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)