Hnf1b HNF1 homeobox B [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Hnf1bprovided by MGI
Official Full Name: HNF1 homeobox Bprovided by MGI
Primary source: MGI:MGI:98505
See related: Ensembl:ENSMUSG00000020679 AllianceGenome:MGI:98505
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: LFB3; Tcf2; Tcf-2; vHNF1; HNF-1B; Hnf1beta; HNF-1Beta; HNF-1-beta
Summary: Enables DNA-binding transcription factor activity, RNA polymerase II-specific; cis-regulatory region sequence-specific DNA binding activity; and identical protein binding activity. Acts upstream of or within several processes, including negative regulation of mesenchymal cell apoptotic process; regulation of gene expression; and tube morphogenesis. Located in nucleus. Part of transcription regulator complex. Is expressed in several structures, including central nervous system; early conceptus; genitourinary system; gut; and sensory organ. Human ortholog(s) of this gene implicated in kidney disease; maturity-onset diabetes of the young type 5; pancreas disease; renal cell carcinoma; and type 2 diabetes mellitus. Orthologous to human HNF1B (HNF1 homeobox B). [provided by Alliance of Genome Resources, Nov 2024]
Expression: Biased expression in kidney adult (RPKM 51.9), colon adult (RPKM 15.8) and 11 other tissues See more
Orthologs: human all
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Genomic context

Location:: 11 C; 11 51.23 cM

Exon count:: 12

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	11	NC_000077.7 (83741035..83796743)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	11	NC_000077.6 (83850209..83905917)

Chromosome 11 - NC_000077.7 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?

Sexually dimorphic renal expression of mouse Klotho is directed by a kidney-specific distal enhancer responsive to HNF1b.
Title: Sexually dimorphic renal expression of mouse Klotho is directed by a kidney-specific distal enhancer responsive to HNF1b.
Functional genomics analysis identifies loss of HNF1B function as a cause of Mayer-Rokitansky-Kuster-Hauser syndrome.
Title: Functional genomics analysis identifies loss of HNF1B function as a cause of Mayer-Rokitansky-Küster-Hauser syndrome.
Transcription factor HNF1beta controls a transcriptional network regulating kidney cell structure and tight junction integrity.
Title: Transcription factor HNF1β controls a transcriptional network regulating kidney cell structure and tight junction integrity.
HNF1beta-associated cyst development and electrolyte disturbances are not explained by BAIAP2L2 expression.
Title: HNF1β-associated cyst development and electrolyte disturbances are not explained by BAIAP2L2 expression.
Multiomics analysis reveals that hepatocyte nuclear factor 1beta regulates axon guidance genes in the developing mouse kidney.
Title: Multiomics analysis reveals that hepatocyte nuclear factor 1β regulates axon guidance genes in the developing mouse kidney.
Mechanisms of ion transport regulation by HNF1beta in the kidney: beyond transcriptional regulation of channels and transporters.
Title: Mechanisms of ion transport regulation by HNF1β in the kidney: beyond transcriptional regulation of channels and transporters.
Hnf1b haploinsufficiency differentially affects developmental target genes in a new renal cysts and diabetes mouse model.
Title: Hnf1b haploinsufficiency differentially affects developmental target genes in a new renal cysts and diabetes mouse model.
Hepatocyte nuclear factor-1beta shapes the energetic homeostasis of kidney tubule cells.
Title: Hepatocyte nuclear factor-1β shapes the energetic homeostasis of kidney tubule cells.
Hepatocyte nuclear factor 1beta suppresses canonical Wnt signaling through transcriptional repression of lymphoid enhancer-binding factor 1.
Title: Hepatocyte nuclear factor 1β suppresses canonical Wnt signaling through transcriptional repression of lymphoid enhancer-binding factor 1.
Study shows how Hnf1b inactivation in pancreatic ductal cells leads to chronic pancreatitis, neoplasia, and potentiates pancreatic intraepithelial neoplasia formation. This shows a cause of pancreatitis and identifies Hnf1b as a potential tumor suppressor for pancreatic cancer.
Title: Pancreatic Ductal Deletion of Hnf1b Disrupts Exocrine Homeostasis, Leads to Pancreatitis, and Facilitates Tumorigenesis.

Submit: New GeneRIF Correction See all GeneRIFs (52)

Variation

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Alleles

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

Endonuclease-mediated (2)
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

UniSTS:465411 (e-PCR)
- UniSTS:465411

Tcf2 (e-PCR), detects polymorphism
- UniSTS:465411

AI987804 (e-PCR)
- UniSTS:180282

Hnf1b (e-PCR), detects polymorphism
- UniSTS:506980

AI385728 (e-PCR)
- UniSTS:160134

Tcf2 (e-PCR), detects polymorphism
- UniSTS:464796

Hnf1b (e-PCR), detects polymorphism
- UniSTS:545949

Tcf2 (e-PCR), detects polymorphism
- UniSTS:463525

Tcf2 (e-PCR), detects polymorphism
- UniSTS:233982

Tcf2 (e-PCR), detects polymorphism
- UniSTS:233983

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
enables DNA-binding transcription factor activity	IDA Inferred from Direct Assay more info	PubMed
enables DNA-binding transcription factor activity	ISO Inferred from Sequence Orthology more info
enables DNA-binding transcription factor activity	ISS Inferred from Sequence or Structural Similarity more info
enables DNA-binding transcription factor activity, RNA polymerase II-specific	IBA Inferred from Biological aspect of Ancestor more info
enables DNA-binding transcription factor activity, RNA polymerase II-specific	IDA Inferred from Direct Assay more info	PubMed
enables DNA-binding transcription factor activity, RNA polymerase II-specific	ISO Inferred from Sequence Orthology more info
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding	IBA Inferred from Biological aspect of Ancestor more info
enables cis-regulatory region sequence-specific DNA binding	IDA Inferred from Direct Assay more info	PubMed
enables cis-regulatory region sequence-specific DNA binding	ISO Inferred from Sequence Orthology more info
enables identical protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables identical protein binding	ISO Inferred from Sequence Orthology more info
enables promoter-specific chromatin binding	IDA Inferred from Direct Assay more info	PubMed
enables promoter-specific chromatin binding	IMP Inferred from Mutant Phenotype more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein homodimerization activity	ISO Inferred from Sequence Orthology more info
enables protein homodimerization activity	ISS Inferred from Sequence or Structural Similarity more info
enables protein-containing complex binding	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	IDA Inferred from Direct Assay more info	PubMed
enables transcription coregulator binding	ISO Inferred from Sequence Orthology more info

Process	Evidence Code	Pubs
acts_upstream_of_or_within Notch signaling pathway	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within anterior/posterior pattern specification	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of apoptotic process	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within branching morphogenesis of an epithelial tube	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in circadian regulation of gene expression	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within embryonic digestive tract morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in embryonic morphogenesis	ISO Inferred from Sequence Orthology more info
involved_in endocrine pancreas development	ISO Inferred from Sequence Orthology more info
involved_in endocrine pancreas development	ISS Inferred from Sequence or Structural Similarity more info
acts_upstream_of_or_within endoderm development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within endoderm formation	ISO Inferred from Sequence Orthology more info	PubMed
acts_upstream_of_or_within endodermal cell fate specification	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within epithelial cell proliferation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within epithelium development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within gene expression	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in genitalia development	ISO Inferred from Sequence Orthology more info
involved_in genitalia development	ISS Inferred from Sequence or Structural Similarity more info
acts_upstream_of_or_within hepatoblast differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within hindbrain development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within inner cell mass cell differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within insulin secretion	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within kidney development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in kidney development	ISO Inferred from Sequence Orthology more info
involved_in kidney development	ISS Inferred from Sequence or Structural Similarity more info
acts_upstream_of_or_within kidney morphogenesis	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within liver development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of mesenchymal cell apoptotic process involved in metanephros development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within mesonephric duct development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within mesonephric duct formation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within mesonephric tubule development	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within negative regulation of apoptotic process	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within negative regulation of mesenchymal cell apoptotic process involved in mesonephric nephron morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within negative regulation of mesenchymal cell apoptotic process involved in metanephros development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within negative regulation of transcription by RNA polymerase II	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within nephric duct development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within nephric duct formation	IMP Inferred from Mutant Phenotype more info	PubMed
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	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of DNA-templated transcription	ISS Inferred from Sequence or Structural Similarity more info
acts_upstream_of_or_within positive regulation of gene expression	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within 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	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of transcription initiation by RNA polymerase II	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of transcription initiation by RNA polymerase II	ISO Inferred from Sequence Orthology more info
involved_in pronephric nephron tubule development	IEA Inferred from Electronic Annotation more info
involved_in pronephric nephron tubule development	ISO Inferred from Sequence Orthology more info
involved_in pronephros development	ISO Inferred from Sequence Orthology more info
involved_in protein-DNA complex assembly	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within regulation of Wnt signaling pathway	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within regulation of branch elongation involved in ureteric bud branching	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of pronephros size	IEA Inferred from Electronic Annotation more info
involved_in regulation of pronephros size	ISO Inferred from Sequence Orthology more info
involved_in regulation of transcription by RNA polymerase II	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within response to glucose	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within ureteric bud elongation	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
located_in intracellular membrane-bounded organelle	ISO Inferred from Sequence Orthology more info
located_in nucleoplasm	ISO Inferred from Sequence Orthology more info
located_in nucleoplasm	TAS Traceable Author Statement 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
located_in nucleus	ISS Inferred from Sequence or Structural Similarity 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-beta

Names: homeoprotein LFB3; transcription factor 2

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_001291268.1 → NP_001278197.1 hepatocyte nuclear factor 1-beta isoform 2

See identical proteins and their annotated locations for NP_001278197.1

Status: VALIDATED

Description

Transcript Variant: This variant (2) uses an alternate splice site in the central coding region, compared to variant 1. The encoded isoform (2) is shorter, compared to isoform 1.

Source sequence(s)

AK004837, AK019258, AV140806

Consensus CDS

CCDS70271.1

UniProtKB/Swiss-Prot

P27889

Related

ENSMUSP00000103749.3, ENSMUST00000108114.9

Conserved Domains (3) summary

cd00086
Location:206 → 279

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:288 → 525

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

pfam04814
Location:8 → 173

HNF-1_N; Hepatocyte nuclear factor 1 (HNF-1), N terminus
NM_001291269.1 → NP_001278198.1 hepatocyte nuclear factor 1-beta isoform 3

See identical proteins and their annotated locations for NP_001278198.1

Status: VALIDATED

Description

Transcript Variant: This variant (3) contains an alternate 5'-terminal exon, lacks part of the 5' coding region, and uses a downstream start codon, compared to variant 1. The encoded isoform (3) has a shorter N-terminus, compared to isoform 1.

Source sequence(s)

AK004837, AK019258, AL669868, AV140806

Consensus CDS

CCDS70272.1

UniProtKB/Swiss-Prot

P27889

Related

ENSMUSP00000103748.2, ENSMUST00000108113.3

Conserved Domains (3) summary

cd00086
Location:109 → 182

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:191 → 428

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

pfam04814
Location:1 → 51

HNF-1_N; Hepatocyte nuclear factor 1 (HNF-1), N-terminus
NM_009330.3 → NP_033356.2 hepatocyte nuclear factor 1-beta isoform 1

See identical proteins and their annotated locations for NP_033356.2

Status: VALIDATED

Description

Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).

Source sequence(s)

AK004837, AK019258, AV140806

Consensus CDS

CCDS25179.1

UniProtKB/Swiss-Prot

P27889, Q5NC37, Q8R162, Q9CS26, Q9R1W1, Q9R1W2, Q9WTL5, Q9WTL6

Related

ENSMUSP00000021016.3, ENSMUST00000021016.10

Conserved Domains (3) summary

cd00086
Location:232 → 305

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:314 → 551

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

pfam04814
Location:8 → 173

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_000077.7 Reference GRCm39 C57BL/6J

Range

83741035..83796743

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_006532794.3 → XP_006532857.1 hepatocyte nuclear factor 1-beta isoform X3

Conserved Domains (3) summary

cd00086
Location:120 → 193

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:202 → 439

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

pfam04814
Location:1 → 62

HNF-1_N; Hepatocyte nuclear factor 1 (HNF-1), N-terminus
XM_006532791.4 → XP_006532854.1 hepatocyte nuclear factor 1-beta isoform X1

Conserved Domains (3) summary

cd00086
Location:232 → 305

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:314 → 550

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

pfam04814
Location:8 → 174

HNF-1_N; Hepatocyte nuclear factor 1 (HNF-1), N-terminus
XM_006532793.4 → XP_006532856.1 hepatocyte nuclear factor 1-beta isoform X2

Conserved Domains (3) summary

cd00086
Location:206 → 279

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:288 → 524

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

pfam04814
Location:8 → 174

HNF-1_N; Hepatocyte nuclear factor 1 (HNF-1), N-terminus
XM_006532796.4 → XP_006532859.1 hepatocyte nuclear factor 1-beta isoform X4

See identical proteins and their annotated locations for XP_006532859.1

UniProtKB/Swiss-Prot

P27889

Conserved Domains (3) summary

cd00086
Location:109 → 182

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:191 → 428

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

pfam04814
Location:1 → 51

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