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FOXD1 forkhead box D1 [ Homo sapiens (human) ]

Gene ID: 2297, updated on 8-Apr-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

Location:
5q13.2
Exon count:
1
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 5 NC_000005.10 (73446266..73448777, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 5 NC_060929.1 (73927589..73930100, complement)
105.20220307 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

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Gene Ontology Provided by GOA

Process Evidence Code Pubs
involved_in anatomical structure morphogenesis IBA
Inferred from Biological aspect of Ancestor
more info
 
involved_in axon guidance IEA
Inferred from Electronic Annotation
more info
 
involved_in canonical Wnt signaling pathway IEA
Inferred from Electronic Annotation
more info
 
involved_in cell differentiation IBA
Inferred from Biological aspect of Ancestor
more info
 
involved_in dichotomous subdivision of terminal units involved in ureteric bud branching ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in luteinizing hormone secretion IEA
Inferred from Electronic Annotation
more info
 
involved_in metanephric capsule development ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in metanephric capsule specification ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in metanephric nephron development IEA
Inferred from Electronic Annotation
more info
 
involved_in negative regulation of DNA-templated transcription ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in nephrogenic mesenchyme development IEA
Inferred from Electronic Annotation
more info
 
involved_in positive regulation of BMP signaling pathway ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in positive regulation of gene expression ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in positive regulation of kidney development ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in positive regulation of transcription by RNA polymerase II IEA
Inferred from Electronic Annotation
more info
 
involved_in regulation of transcription by RNA polymerase II IBA
Inferred from Biological aspect of Ancestor
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 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)

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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.

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_2023_10

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)