Version 5.4
Homo sapiens Gene: HNF1B
Summary
InnateDB Gene IDBG-774405.1
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol HNF1B
Gene Name HNF1 homeobox B
Synonyms FJHN; HNF-1B; HNF1beta; HNF2; HPC11; LF-B3; LFB3; MODY5; TCF-2; TCF2; VHNF1
Species Homo sapiens
Ensembl Gene ENSG00000275410
Encoded Proteins
IDBP-808959
HNF1 homeobox B
IDBP-808964
HNF1 homeobox B
IDBP-808966
HNF1 homeobox B
IDBP-808967
HNF1 homeobox B
IDBP-808977
HNF1 homeobox B
IDBP-808981
HNF1 homeobox B
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary This gene encodes a member of the homeodomain-containing superfamily of transcription factors. The protein binds to DNA as either a homodimer, or a heterodimer with the related protein hepatocyte nuclear factor 1-alpha. The gene has been shown to function in nephron development, and regulates development of the embryonic pancreas. Mutations in this gene result in renal cysts and diabetes syndrome and noninsulin-dependent diabetes mellitus, and expression of this gene is altered in some types of cancer. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Sep 2009]
Gene Information
Type Protein coding
Genomic Location Chromosome 17:37686432-37745247
Strand Reverse strand
Band q12
Transcripts
ENST00000617811 ENSP00000480291
ENST00000621123 ENSP00000482711
ENST00000614313 ENSP00000482529
ENST00000613727 ENSP00000477524
ENST00000618894
ENST00000620125 ENSP00000481245
ENST00000617272 ENSP00000478682
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 6 experimentally validated interaction(s) in this database.
Experimentally validated
Total 6 [view]
Protein-Protein 5 [view]
Protein-DNA 1 [view]
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
GO:0003677 DNA binding
GO:0003700 sequence-specific DNA binding transcription factor activity
GO:0003705 RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity
GO:0005515 protein binding
GO:0042803 protein homodimerization activity
GO:0043565 sequence-specific DNA binding
GO:0044212 transcription regulatory region DNA binding
GO:0046982 protein heterodimerization activity
Biological Process
GO:0000122 negative regulation of transcription from RNA polymerase II promoter
GO:0001714 endodermal cell fate specification
GO:0001822 kidney development
GO:0001826 inner cell mass cell differentiation
GO:0001889 liver development
GO:0006366 transcription from RNA polymerase II promoter
GO:0007492 endoderm development
GO:0009749 response to glucose
GO:0009952 anterior/posterior pattern specification
GO:0010628 positive regulation of gene expression
GO:0030073 insulin secretion
GO:0030111 regulation of Wnt signaling pathway
GO:0030902 hindbrain development
GO:0031018 endocrine pancreas development
GO:0035565 regulation of pronephros size
GO:0039020 pronephric nephron tubule development
GO:0042663 regulation of endodermal cell fate specification
GO:0043066 negative regulation of apoptotic process
GO:0045893 positive regulation of transcription, DNA-templated
GO:0045944 positive regulation of transcription from RNA polymerase II promoter
GO:0048557 embryonic digestive tract morphogenesis
GO:0048754 branching morphogenesis of an epithelial tube
GO:0048793 pronephros development
GO:0048806 genitalia development
GO:0050673 epithelial cell proliferation
GO:0060261 positive regulation of transcription initiation from RNA polymerase II promoter
GO:0060429 epithelium development
GO:0060677 ureteric bud elongation
GO:0060993 kidney morphogenesis
GO:0061017 hepatoblast differentiation
GO:0061296 negative regulation of mesenchymal cell apoptotic process involved in mesonephric nephron morphogenesis
GO:0072095 regulation of branch elongation involved in ureteric bud branching
GO:0072164 mesonephric tubule development
GO:0072176 nephric duct development
GO:0072177 mesonephric duct development
GO:0072179 nephric duct formation
GO:0072181 mesonephric duct formation
GO:1900212 negative regulation of mesenchymal cell apoptotic process involved in metanephros development
Cellular Component
GO:0005634 nucleus
GO:0005667 transcription factor complex
Orthologs
No orthologs found for this gene
Pathways
NETPATH
REACTOME
REACT_13673
Regulation of gene expression in late stage (branching morphogenesis) pancreatic bud precursor cells pathway
REACT_13778
Regulation of gene expression in early pancreatic precursor cells pathway
REACT_111045
Developmental Biology pathway
REACT_13698
Regulation of beta-cell development pathway
KEGG
hsa04950
Maturity onset diabetes of the young pathway
INOH
PID NCI
Cross-References
SwissProt
TrEMBL E0YMJ6
UniProt Splice Variant
Entrez Gene 6928
UniGene
RefSeq NM_001165923 NM_000458
HUGO HGNC:11630
OMIM 189907
CCDS CCDS58538 CCDS11324
HPRD
IMGT
EMBL HM116553
GenPept ADM43490
RNA Seq Atlas 6928

If you use InnateDB for your research, please cite the following publication:

Breuer et al., InnateDB: systems biology of innate immunity and beyond - recent updates and continuing curation. Nucl. Acids Res. (2013) 41 (D1) 

InnateDB is being developed jointly by the Brinkman Laboratory (Simon Fraser University, British Columbia, Canada), the Hancock Laboratory (University of British Columbia, Vancouver, British Columbia) and the Lynn EMBL Australia Group (South Australian Health & Medical Research Institute and Flinders University, Adelaide, Australia).

Funding is currently provided by Allergen and EMBL Australia. Previous funding has been provided by Genome Canada, the Foundation for the National Institutes of Health through the Grand Challenges in Global Health initiative and by Teagasc. InnateDB curated interactions are licensed under the Design Science License. All other data is licensed under the terms of the originating database. Contact: innatedb-mail@sfu.ca