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FOXA1 forkhead box A1 [ Homo sapiens (human) ]

Gene ID: 3169, updated on 19-Jul-2021

Summary

Official Symbol
FOXA1provided by HGNC
Official Full Name
forkhead box A1provided by HGNC
Primary source
HGNC:HGNC:5021
See related
Ensembl:ENSG00000129514 MIM:602294
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
HNF3A; TCF3A
Summary
This gene encodes a member of the forkhead class of DNA-binding proteins. These hepatocyte nuclear factors are transcriptional activators for liver-specific transcripts such as albumin and transthyretin, and they also interact with chromatin. Similar family members in mice have roles in the regulation of metabolism and in the differentiation of the pancreas and liver. [provided by RefSeq, Jul 2008]
Expression
Biased expression in prostate (RPKM 46.5), urinary bladder (RPKM 12.0) and 6 other tissues See more
Orthologs
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Genomic context

See FOXA1 in Genome Data Viewer
Location:
14q21.1
Exon count:
3
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 14 NC_000014.9 (37589552..37595249, complement)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 14 NC_000014.8 (38058757..38064454, complement)

Chromosome 14 - NC_000014.9Genomic Context describing neighboring genes Neighboring gene mirror-image polydactyly 1 Neighboring gene RNA, U6 small nuclear 886, pseudogene Neighboring gene FOXA motif-containing MPRA enhancer 271 Neighboring gene tetratricopeptide repeat domain 6 Neighboring gene RNA, U6 small nuclear 1277, pseudogene Neighboring gene long intergenic non-protein coding RNA 517

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
A genome-wide association meta-analysis of self-reported allergy identifies shared and allergy-specific susceptibility loci.
GeneReviews: Not available
Genome-wide association study of chronic periodontitis in a general German population.
GeneReviews: Not available

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC33105

Gene Ontology Provided by GOA

Process Evidence Code Pubs
involved_in Notch signaling pathway IEA
Inferred from Electronic Annotation
more info
 
involved_in alveolar secondary septum development IEA
Inferred from Electronic Annotation
more info
 
involved_in anatomical structure formation involved in morphogenesis IEA
Inferred from Electronic Annotation
more info
 
involved_in anatomical structure morphogenesis IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in cell differentiation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in chromatin remodeling ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in dopaminergic neuron differentiation TAS
Traceable Author Statement
more info
PubMed 
involved_in dorsal/ventral neural tube patterning IEA
Inferred from Electronic Annotation
more info
 
involved_in epithelial cell maturation involved in prostate gland development IEA
Inferred from Electronic Annotation
more info
 
involved_in epithelial tube branching involved in lung morphogenesis IEA
Inferred from Electronic Annotation
more info
 
involved_in epithelial-mesenchymal signaling involved in prostate gland development IEA
Inferred from Electronic Annotation
more info
 
involved_in glucose homeostasis IEA
Inferred from Electronic Annotation
more info
 
involved_in hormone metabolic process IEA
Inferred from Electronic Annotation
more info
 
involved_in lung epithelial cell differentiation IEA
Inferred from Electronic Annotation
more info
 
involved_in negative regulation of epithelial to mesenchymal transition IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in negative regulation of transcription by RNA polymerase II IEA
Inferred from Electronic Annotation
more info
 
involved_in neuron fate specification IEA
Inferred from Electronic Annotation
more info
 
involved_in positive regulation of DNA-binding transcription factor activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in positive regulation of apoptotic process IDA
Inferred from Direct Assay
more info
PubMed 
involved_in positive regulation of cell-cell adhesion mediated by cadherin IC
Inferred by Curator
more info
PubMed 
involved_in positive regulation of intracellular estrogen receptor signaling pathway IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in positive regulation of mitotic cell cycle IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in positive regulation of neuron differentiation IEA
Inferred from Electronic Annotation
more info
 
involved_in positive regulation of smoothened signaling pathway IEA
Inferred from Electronic Annotation
more info
 
involved_in positive regulation of transcription by RNA polymerase II IDA
Inferred from Direct Assay
more info
PubMed 
involved_in positive regulation of transcription by RNA polymerase II IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in prostate gland epithelium morphogenesis IEA
Inferred from Electronic Annotation
more info
 
involved_in prostate gland stromal morphogenesis 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
PubMed 
involved_in respiratory basal cell differentiation IEA
Inferred from Electronic Annotation
more info
 
involved_in response to estradiol IDA
Inferred from Direct Assay
more info
PubMed 
involved_in secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
located_in chromatin ISA
Inferred from Sequence Alignment
more info
 
located_in fibrillar center IDA
Inferred from Direct Assay
more info
 
located_in microvillus IEA
Inferred from Electronic Annotation
more info
 
located_in nucleoplasm IDA
Inferred from Direct Assay
more info
 
located_in nucleoplasm TAS
Traceable Author Statement
more info
 
located_in nucleus IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
hepatocyte nuclear factor 3-alpha
Names
HNF-3-alpha
HNF-3A
TCF-3A
forkhead box protein A1
transcription factor 3A

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_033028.1 RefSeqGene

    Range
    4872..10569
    Download
    GenBank, FASTA, Sequence Viewer (Graphics), LRG_1415

mRNA and Protein(s)

  1. NM_004496.5NP_004487.2  hepatocyte nuclear factor 3-alpha

    See identical proteins and their annotated locations for NP_004487.2

    Status: REVIEWED

    Source sequence(s)
    AL121790
    Consensus CDS
    CCDS9665.1
    UniProtKB/Swiss-Prot
    P55317
    Related
    ENSP00000250448.3, ENST00000250448.5
    Conserved Domains (3) summary
    pfam08430
    Location:17169
    Forkhead_N; Forkhead N-terminal region
    pfam09354
    Location:398461
    HNF_C; HNF3 C-terminal domain
    cd20038
    Location:157268
    FH_FOXA1; Forkhead (FH) domain found in Forkhead box protein A1 (FOXA1) and similar proteins

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000014.9 Reference GRCh38.p13 Primary Assembly

    Range
    37589552..37595249 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017021246.1XP_016876735.1  hepatocyte nuclear factor 3-alpha isoform X1

    UniProtKB/Swiss-Prot
    P55317
    Conserved Domains (3) summary
    smart00339
    Location:137225
    FH; FORKHEAD
    pfam08430
    Location:1136
    Forkhead_N; Forkhead N-terminal region
    pfam09354
    Location:365428
    HNF_C; HNF3 C-terminal domain
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