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FOXA1 forkhead box A1 [ Homo sapiens (human) ]

Gene ID: 3169, updated on 12-Aug-2018
Official Symbol
FOXA1provided by HGNC
Official Full Name
forkhead box A1provided by HGNC
Primary source
HGNC:HGNC:5021
See related
Ensembl:ENSG00000129514 MIM:602294; Vega:OTTHUMG00000140253
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
See FOXA1 in Genome Data Viewer
Location:
14q21.1
Exon count:
3
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 14 NC_000014.9 (37589552..37595120, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 14 NC_000014.8 (38058757..38064325, 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

  • 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 Jun 15 11:32:44 2016

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

NHGRI GWAS Catalog

Description
A genome-wide association meta-analysis of self-reported allergy identifies shared and allergy-specific susceptibility loci.
NHGRI GWA Catalog
Genome-wide association study of chronic periodontitis in a general German population.
NHGRI GWA Catalog
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Clone Names

  • MGC33105

Gene Ontology Provided by GOA

Process Evidence Code Pubs
Notch signaling pathway IEA
Inferred from Electronic Annotation
more info
 
alveolar secondary septum development IEA
Inferred from Electronic Annotation
more info
 
anatomical structure formation involved in 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 
chromatin remodeling ISS
Inferred from Sequence or Structural Similarity
more info
 
dopaminergic neuron differentiation TAS
Traceable Author Statement
more info
PubMed 
dorsal/ventral neural tube patterning IEA
Inferred from Electronic Annotation
more info
 
epithelial cell maturation involved in prostate gland development IEA
Inferred from Electronic Annotation
more info
 
epithelial tube branching involved in lung morphogenesis IEA
Inferred from Electronic Annotation
more info
 
epithelial-mesenchymal signaling involved in prostate gland development IEA
Inferred from Electronic Annotation
more info
 
glucose homeostasis IEA
Inferred from Electronic Annotation
more info
 
hormone metabolic process IEA
Inferred from Electronic Annotation
more info
 
lung epithelial cell differentiation IEA
Inferred from Electronic Annotation
more info
 
negative regulation of epithelial to mesenchymal transition IMP
Inferred from Mutant Phenotype
more info
PubMed 
negative regulation of transcription by RNA polymerase II IEA
Inferred from Electronic Annotation
more info
 
neuron fate specification IEA
Inferred from Electronic Annotation
more info
 
positive regulation of DNA-binding transcription factor activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of apoptotic process IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of cell-cell adhesion mediated by cadherin IC
Inferred by Curator
more info
PubMed 
positive regulation of intracellular estrogen receptor signaling pathway IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of mitotic cell cycle IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of neuron differentiation IEA
Inferred from Electronic Annotation
more info
 
positive regulation of smoothened signaling pathway IEA
Inferred from Electronic Annotation
more info
 
positive regulation of transcription by RNA polymerase II IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of transcription by RNA polymerase II IMP
Inferred from Mutant Phenotype
more info
PubMed 
prostate gland epithelium morphogenesis IEA
Inferred from Electronic Annotation
more info
 
prostate gland stromal morphogenesis IEA
Inferred from Electronic Annotation
more info
 
regulation of transcription by RNA polymerase II IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
respiratory basal cell differentiation IEA
Inferred from Electronic Annotation
more info
 
response to estradiol IDA
Inferred from Direct Assay
more info
PubMed 
secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development IEA
Inferred from Electronic Annotation
more info
 
transcription by RNA polymerase II IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
fibrillar center IDA
Inferred from Direct Assay
more info
 
microvillus IEA
Inferred from Electronic Annotation
more info
 
nucleoplasm IDA
Inferred from Direct Assay
more info
 
nucleoplasm TAS
Traceable Author Statement
more info
 
nucleus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
nucleus IDA
Inferred from Direct Assay
more info
PubMed 
Preferred Names
hepatocyte nuclear factor 3-alpha
Names
HNF-3-alpha
HNF-3A
TCF-3A
forkhead box protein A1
transcription factor 3A

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
    5001..10569
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

    See identical proteins and their annotated locations for NP_004487.2

    Status: REVIEWED

    Source sequence(s)
    AK313785, AL121790, BC033890, BM970983, DA705947
    Consensus CDS
    CCDS9665.1
    UniProtKB/Swiss-Prot
    P55317
    Related
    ENSP00000250448.2, OTTHUMP00000178879, ENST00000250448.2, OTTHUMT00000276735
    Conserved Domains (3) summary
    smart00339
    Location:170258
    FH; FORKHEAD
    pfam08430
    Location:17169
    Forkhead_N; Forkhead N-terminal region
    pfam09354
    Location:398461
    HNF_C; HNF3 C-terminal domain

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000014.9 Reference GRCh38.p12 Primary Assembly

    Range
    37589552..37595120 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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