Hnf1a HNF1 homeobox A [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Hnf1aprovided by MGI
Official Full Name: HNF1 homeobox Aprovided by MGI
Primary source: MGI:MGI:98504
See related: Ensembl:ENSMUSG00000029556 AllianceGenome:MGI:98504
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: HNF1; LFB1; Tcf1; Hnf-1; Tcf-1; HNF1[a]; Hnf1alpha; HNF1-alpha
Summary: This gene encodes a hepatic transcription factor. The encoded protein is not a member of the T-cell factor family, and is distinct from T-cell specific transcription factor 7 which has also been referred to by the symbol Tcf1. [provided by RefSeq, Jul 2008]
Expression: Biased expression in small intestine adult (RPKM 18.4), duodenum adult (RPKM 16.8) and 10 other tissues See more
Orthologs: human all
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Genomic context

Location:: 5 55.99 cM; 5 F

Exon count:: 11

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	5	NC_000071.7 (115087039..115109121, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	5	NC_000071.6 (114948980..114971062, complement)

Chromosome 5 - NC_000071.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

An Italian MODY family with proband and son carrying variants in GCK and HFN1A: is it a true case of digenic MODY?
Title: An Italian MODY family with proband and son carrying variants in GCK and HFN1A: is it a true case of digenic MODY?
Lysine 117 Residue Is Essential for the Function of the Hepatocyte Nuclear Factor 1alpha.
Title: Lysine 117 Residue Is Essential for the Function of the Hepatocyte Nuclear Factor 1α.
High-fat diet plus HNF1A variant promotes polyps by activating beta-catenin in early-onset colorectal cancer.
Title: High-fat diet plus HNF1A variant promotes polyps by activating β-catenin in early-onset colorectal cancer.
MicroRNA-200c coordinates HNF1 homeobox B and apolipoprotein O functions to modulate lipid homeostasis in alcoholic fatty liver disease.
Title: MicroRNA-200c coordinates HNF1 homeobox B and apolipoprotein O functions to modulate lipid homeostasis in alcoholic fatty liver disease.
TFH cells depend on Tcf1-intrinsic HDAC activity to suppress CTLA4 and guard B-cell help function.
Title: T(FH) cells depend on Tcf1-intrinsic HDAC activity to suppress CTLA4 and guard B-cell help function.
TCF-1 deficiency influences the composition of intestinal microbiota and enhances susceptibility to colonic inflammation.
Title: TCF-1 deficiency influences the composition of intestinal microbiota and enhances susceptibility to colonic inflammation.
Transcriptional Regulation of the Angptl8 Gene by Hepatocyte Nuclear Factor-1 in the Murine Liver.
Title: Transcriptional Regulation of the Angptl8 Gene by Hepatocyte Nuclear Factor-1 in the Murine Liver.
Casein kinase 2 interacting protein 1 positively regulates caudal-related homeobox 1 in intestinal-type gastric cancer.
Title: Casein kinase 2 interacting protein 1 positively regulates caudal-related homeobox 1 in intestinal-type gastric cancer.
Our data demonstrate that Tcf1-mediated Blimp1 repression is functionally critical for safeguarding T follicular helper cell differentiation
Title: Cutting Edge: Tcf1 Instructs T Follicular Helper Cell Differentiation by Repressing Blimp1 in Response to Acute Viral Infection.
HNF1alpha regulates hepatic lipid metabolism by promoting the expression of SOCS-3 and negatively regulating the STAT3 signaling pathway
Title: HNF1α Controls Liver Lipid Metabolism and Insulin Resistance via Negatively Regulating the SOCS-3-STAT3 Signaling Pathway.

Submit: New GeneRIF Correction See all GeneRIFs (72)

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Endonuclease-mediated (3) 1 citation
Targeted (7) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

TCF1 (e-PCR), detects polymorphism
- UniSTS:258304

Tcf1 (e-PCR), detects polymorphism
- UniSTS:465410

NoName (e-PCR)
- UniSTS:235279

M57966 (e-PCR)
- UniSTS:124958

AI323641 (e-PCR)
- UniSTS:179245

PMC140695P1 (e-PCR)
- UniSTS:270969

PMC140695P2 (e-PCR)
- UniSTS:270970

RH94689 (e-PCR)
- UniSTS:119936

Hnf1a (e-PCR), detects polymorphism
- UniSTS:545948

Tcf1 (e-PCR), detects polymorphism
- UniSTS:144554

Hnf1a (e-PCR), detects polymorphism
- UniSTS:516526

PMC115916P1 (e-PCR)
- UniSTS:270305

D5Mit158 (e-PCR), detects polymorphism
- UniSTS:130284

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables DNA binding	IDA Inferred from Direct Assay more info	PubMed
enables DNA binding	ISO Inferred from Sequence Orthology more info	PubMed
enables DNA-binding transcription activator activity, RNA polymerase II-specific	ISO Inferred from Sequence Orthology more info
enables DNA-binding transcription factor activity	IDA Inferred from Direct Assay more info	PubMed
enables DNA-binding transcription factor activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables DNA-binding transcription factor activity	ISO Inferred from Sequence Orthology more info	PubMed
enables DNA-binding transcription factor activity, RNA polymerase II-specific	IBA Inferred from Biological aspect of Ancestor more info
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding	IBA Inferred from Biological aspect of Ancestor more info
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding	IDA Inferred from Direct Assay more info	PubMed
enables chromatin binding	IDA Inferred from Direct Assay more info	PubMed
enables double-stranded DNA binding	ISO Inferred from Sequence Orthology more info
enables identical protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein dimerization activity	IPI Inferred from Physical Interaction more info	PubMed
enables protein dimerization activity	ISO Inferred from Sequence Orthology more info
enables protein heterodimerization activity	ISO Inferred from Sequence Orthology more info
enables protein homodimerization activity	ISO Inferred from Sequence Orthology more info
enables sequence-specific DNA binding	ISO Inferred from Sequence Orthology more info
enables transcription cis-regulatory region binding	ISO Inferred from Sequence Orthology more info
enables transcription coactivator binding	ISO Inferred from Sequence Orthology more info
enables transcription coregulator binding	ISO Inferred from Sequence Orthology more info

Process	Evidence Code	Pubs
involved_in apoptotic nuclear changes	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within bile acid and bile salt transport	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within bile acid biosynthetic process	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within blastocyst development	IMP Inferred from Mutant Phenotype more info
acts_upstream_of_or_within bone resorption	IGI Inferred from Genetic Interaction more info
involved_in cellular response to L-leucine	ISO Inferred from Sequence Orthology more info
involved_in cellular response to glucose stimulus	ISO Inferred from Sequence Orthology more info
involved_in cellular response to rapamycin	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within cholesterol metabolic process	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within chromatin remodeling	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in chromatin remodeling	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within embryonic limb morphogenesis	IGI Inferred from Genetic Interaction more info
acts_upstream_of_or_within fatty acid biosynthetic process	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within fatty acid transport	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in glucose homeostasis	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within glucose homeostasis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in glucose homeostasis	ISO Inferred from Sequence Orthology more info
involved_in glucose import	IDA Inferred from Direct Assay more info	PubMed
involved_in glucose import	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within heme biosynthetic process	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within insulin secretion	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in insulin secretion	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within liver development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of apoptotic process	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of miRNA processing	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of peptidyl-threonine phosphorylation	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of transcription by RNA polymerase II	ISO Inferred from Sequence Orthology more info
involved_in pancreas development	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within paraxial mesoderm formation	IGI Inferred from Genetic Interaction more info
acts_upstream_of_or_within placenta development	IGI Inferred from Genetic Interaction more info
involved_in positive regulation of ATP biosynthetic process	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within positive regulation of DNA-templated transcription	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of DNA-templated transcription	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within positive regulation of DNA-templated transcription	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of DNA-templated transcription	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within positive regulation of DNA-templated transcription	ISO Inferred from Sequence Orthology more info	PubMed
involved_in positive regulation of DNA-templated transcription	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of gene expression	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of mitochondrial membrane potential	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of protein phosphorylation	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within positive regulation of transcription by RNA polymerase II	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within positive regulation of transcription by RNA polymerase II	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of transcription by RNA polymerase II	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of transcription initiation by RNA polymerase II	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within protein localization	IMP Inferred from Mutant Phenotype more info
acts_upstream_of_or_within regulation of DNA-templated transcription	IMP Inferred from Mutant Phenotype more info
acts_upstream_of_or_within regulation of DNA-templated transcription	ISO Inferred from Sequence Orthology more info	PubMed
involved_in regulation of NADP metabolic process	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within regulation of Wnt signaling pathway	IGI Inferred from Genetic Interaction more info
acts_upstream_of_or_within regulation of hormone secretion	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of transcription by RNA polymerase II	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within regulation of transcription by RNA polymerase II	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within regulation of transcription by RNA polymerase II	IGI Inferred from Genetic Interaction more info	PubMed
involved_in regulation of transcription by RNA polymerase II	ISO Inferred from Sequence Orthology more info
involved_in renal glucose absorption	IDA Inferred from Direct Assay more info	PubMed
involved_in renal glucose absorption	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within reproductive structure development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within response to glucose	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within response to oxidative stress	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within reverse cholesterol transport	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in transcription by RNA polymerase II	ISO Inferred from Sequence Orthology more info

Component	Evidence Code	Pubs
part_of chromatin	ISO Inferred from Sequence Orthology more info
located_in cytoplasm	IDA Inferred from Direct Assay more info
located_in cytoplasm	ISO Inferred from Sequence Orthology more info
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed
located_in nucleus	ISO Inferred from Sequence Orthology more info	PubMed
located_in photoreceptor outer segment	IGI Inferred from Genetic Interaction more info
located_in pronucleus	IDA Inferred from Direct Assay more info
part_of protein-containing complex	ISO Inferred from Sequence Orthology more info
part_of transcription regulator complex	IPI Inferred from Physical Interaction more info	PubMed

General protein information

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Preferred Names: hepatocyte nuclear factor 1-alpha

Names: liver-specific transcription factor LF-B1; transcription factor 1

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)

NM_009327.3 → NP_033353.2 hepatocyte nuclear factor 1-alpha

See identical proteins and their annotated locations for NP_033353.2

Status: VALIDATED

Source sequence(s)

AK141225, AK144051, BC080698

Consensus CDS

CCDS19577.1

UniProtKB/Swiss-Prot

E9QP86, P22361

UniProtKB/TrEMBL

Q66JY7

Related

ENSMUSP00000031535.5, ENSMUST00000031535.12

Conserved Domains (4) summary

cd00086
Location:200 → 273

homeodomain; Homeodomain; DNA binding domains involved in the transcriptional regulation of key eukaryotic developmental processes; may bind to DNA as monomers or as homo- and/or heterodimers, in a sequence-specific manner.

pfam04812
Location:282 → 538

HNF-1B_C; Hepatocyte nuclear factor 1 (HNF-1), beta isoform C terminus

pfam04813
Location:540 → 627

HNF-1A_C; Hepatocyte nuclear factor 1 (HNF-1), alpha isoform C terminus

pfam04814
Location:8 → 167

HNF-1_N; Hepatocyte nuclear factor 1 (HNF-1), N terminus

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

Reference GRCm39 C57BL/6J

Genomic

NC_000071.7 Reference GRCm39 C57BL/6J

Range

115087039..115109121 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_011248192.2 → XP_011246494.1 hepatocyte nuclear factor 1-alpha isoform X1

UniProtKB/TrEMBL

Q66JY7

Conserved Domains (4) summary

cd00086
Location:83 → 156

homeodomain; Homeodomain; DNA binding domains involved in the transcriptional regulation of key eukaryotic developmental processes; may bind to DNA as monomers or as homo- and/or heterodimers, in a sequence-specific manner.

pfam04812
Location:165 → 421

HNF-1B_C; Hepatocyte nuclear factor 1 (HNF-1), beta isoform C-terminus

pfam04813
Location:423 → 510

HNF-1A_C; Hepatocyte nuclear factor 1 (HNF-1), alpha isoform C-terminus

pfam04814
Location:1 → 51

HNF-1_N; Hepatocyte nuclear factor 1 (HNF-1), N-terminus