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    FOXD1 forkhead box D1 [ Homo sapiens (human) ]

    Gene ID: 2297, updated on 10-Dec-2024

    Summary

    Official Symbol
    FOXD1provided by HGNC
    Official Full Name
    forkhead box D1provided by HGNC
    Primary source
    HGNC:HGNC:3802
    See related
    Ensembl:ENSG00000251493 MIM:601091; AllianceGenome:HGNC:3802
    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
    FKHL8; FREAC4; FREAC-4
    Summary
    This gene belongs to the forkhead family of transcription factors which are characterized by a distinct forkhead domain. Studies of the orthologous mouse protein indicate that it functions in kidney development by promoting nephron progenitor differentiation, and it also functions in the development of the retina and optic chiasm. It may also regulate inflammatory reactions and prevent autoimmunity. [provided by RefSeq, Apr 2014]
    Orthologs
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    Genomic context

    See FOXD1 in Genome Data Viewer
    Location:
    5q13.2
    Exon count:
    1
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 5 NC_000005.10 (73446266..73448777, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 5 NC_060929.1 (73927589..73930100, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (72742093..72744602, complement)

    Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene long intergenic non-protein coding RNA 2230 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr5:72665955-72667154 Neighboring gene uncharacterized LOC107986383 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:72731449-72732352 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:72739450-72740353 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:72740354-72741256 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16088 Neighboring gene long intergenic non-protein coding RNA 1386 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr5:72783409-72784169 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22657 Neighboring gene BTF3 divergent transcript

    Genomic regions, transcripts, and products

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Pathways from PubChem

    Interactions

    General gene information

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    involved_in anatomical structure morphogenesis  
    involved_in axon guidance  
    involved_in canonical Wnt signaling pathway  
    involved_in cell differentiation  
    involved_in dichotomous subdivision of terminal units involved in ureteric bud branching  
    involved_in luteinizing hormone secretion  
    involved_in metanephric capsule development  
    involved_in metanephric capsule specification  
    involved_in metanephric nephron development  
    involved_in negative regulation of DNA-templated transcription  
    involved_in nephrogenic mesenchyme development  
    involved_in positive regulation of BMP signaling pathway  
    involved_in positive regulation of gene expression  
    involved_in positive regulation of kidney development  
    involved_in positive regulation of transcription by RNA polymerase II  
    involved_in regulation of transcription by RNA polymerase II  
    Component Evidence Code Pubs
    located_in chromatin  
    located_in nucleus PubMed 

    General protein information

    Preferred Names
    forkhead box protein D1
    Names
    Forkhead, drosophila, homolog-like 8
    forkhead-like 8
    forkhead-related activator 4
    forkhead-related protein FKHL8
    forkhead-related transcription factor 4

    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.

    mRNA and Protein(s)

    1. NM_004472.3NP_004463.1  forkhead box protein D1

      See identical proteins and their annotated locations for NP_004463.1

      Status: REVIEWED

      Source sequence(s)
      AC099522, U59832
      Consensus CDS
      CCDS75259.1
      UniProtKB/Swiss-Prot
      Q12949, Q16676
      Related
      ENSP00000481581.1, ENST00000615637.3
      Conserved Domains (1) summary
      pfam00250
      Location:125211
      Forkhead; Forkhead domain

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000005.10 Reference GRCh38.p14 Primary Assembly

      Range
      73446266..73448777 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060929.1 Alternate T2T-CHM13v2.0

      Range
      73927589..73930100 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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