Version 5.4
Homo sapiens Gene: HNF4A
Summary
InnateDB Gene IDBG-76498.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol HNF4A
Gene Name hepatocyte nuclear factor 4, alpha
Synonyms HNF4; HNF4a7; HNF4a8; HNF4a9; HNF4alpha; MODY; MODY1; NR2A1; NR2A21; TCF; TCF14
Species Homo sapiens
Ensembl Gene ENSG00000101076
Encoded Proteins
IDBP-76497
hepatocyte nuclear factor 4, alpha
IDBP-76500
hepatocyte nuclear factor 4, alpha
IDBP-76504
hepatocyte nuclear factor 4, alpha
IDBP-375962
hepatocyte nuclear factor 4, alpha
IDBP-375979
hepatocyte nuclear factor 4, alpha
IDBP-375981
hepatocyte nuclear factor 4, alpha
IDBP-811994
hepatocyte nuclear factor 4, alpha
IDBP-811995
hepatocyte nuclear factor 4, alpha
IDBP-812016
hepatocyte nuclear factor 4, alpha
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary The protein encoded by this gene is a nuclear transcription factor which binds DNA as a homodimer. The encoded protein controls the expression of several genes, including hepatocyte nuclear factor 1 alpha, a transcription factor which regulates the expression of several hepatic genes. This gene may play a role in development of the liver, kidney, and intestines. Mutations in this gene have been associated with monogenic autosomal dominant non-insulin-dependent diabetes mellitus type I. Alternative splicing of this gene results in multiple transcript variants encoding several different isoforms. [provided by RefSeq, Apr 2012]
Gene Information
Type Protein coding
Genomic Location Chromosome 20:44355700-44432845
Strand Forward strand
Band q13.12
Transcripts
ENST00000316673 ENSP00000315180
ENST00000372920 ENSP00000362011
ENST00000316099 ENSP00000312987
ENST00000457232 ENSP00000396216
ENST00000415691 ENSP00000412111
ENST00000443598 ENSP00000410911
ENST00000609795 ENSP00000476609
ENST00000609262 ENSP00000476310
ENST00000619550 ENSP00000481331
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 2332 experimentally validated interaction(s) in this database.
They are also associated with 10 interaction(s) predicted by orthology.
Experimentally validated
Total 2332 [view]
Protein-Protein 87 [view]
Protein-DNA 2243 [view]
Protein-RNA 0
DNA-DNA 2 [view]
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 10 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0000979 RNA polymerase II core promoter sequence-specific DNA binding
GO:0001077 RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription
GO:0001102 RNA polymerase II activating transcription factor binding
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:0003707 steroid hormone receptor activity
GO:0004879 ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity
GO:0005102 receptor binding
GO:0005504 fatty acid binding
GO:0005515 protein binding
GO:0008270 zinc ion binding
GO:0042803 protein homodimerization activity
GO:0043565 sequence-specific DNA binding
GO:0044212 transcription regulatory region DNA binding
Biological Process
GO:0006351 transcription, DNA-templated
GO:0006355 regulation of transcription, DNA-templated
GO:0006357 regulation of transcription from RNA polymerase II promoter
GO:0006366 transcription from RNA polymerase II promoter
GO:0006367 transcription initiation from RNA polymerase II promoter
GO:0006591 ornithine metabolic process
GO:0006629 lipid metabolic process
GO:0006805 xenobiotic metabolic process
GO:0007548 sex differentiation
GO:0007596 blood coagulation
GO:0008285 negative regulation of cell proliferation
GO:0009749 response to glucose
GO:0010467 gene expression
GO:0010470 regulation of gastrulation
GO:0019216 regulation of lipid metabolic process
GO:0023019 signal transduction involved in regulation of gene expression
GO:0030308 negative regulation of cell growth
GO:0030522 intracellular receptor signaling pathway
GO:0031018 endocrine pancreas development
GO:0042593 glucose homeostasis
GO:0043401 steroid hormone mediated signaling pathway
GO:0045893 positive regulation of transcription, DNA-templated
GO:0045944 positive regulation of transcription from RNA polymerase II promoter
GO:0050796 regulation of insulin secretion
GO:0055088 lipid homeostasis
GO:0055091 phospholipid homeostasis
GO:0060395 SMAD protein signal transduction
GO:0060398 regulation of growth hormone receptor signaling pathway
GO:0070328 triglyceride homeostasis
GO:2000189 positive regulation of cholesterol homeostasis
Cellular Component
GO:0005634 nucleus
GO:0005654 nucleoplasm
GO:0005737 cytoplasm
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
ENSMUSG00000017950
View Gene Order
ENSBTAG00000012116
Not yet available
Pathways
NETPATH
NetPath_7
TGF_beta_Receptor pathway
REACTOME
REACT_15525
Nuclear Receptor transcription pathway pathway
REACT_12627
Generic Transcription Pathway pathway
REACT_71
Gene Expression pathway
KEGG
hsa04950
Maturity onset diabetes of the young pathway
INOH
PID NCI
hnf3bpathway
FOXA2 and FOXA3 transcription factor networks
smad2_3nuclearpathway
Regulation of nuclear SMAD2/3 signaling
hif1_tfpathway
HIF-1-alpha transcription factor network
Cross-References
SwissProt P41235
TrEMBL
UniProt Splice Variant
Entrez Gene 3172
UniGene Hs.116462 Hs.603296
RefSeq NM_178850 NM_000457 NM_001030003 NM_001030004 NM_001258355 NM_001287182 NM_001287183 NM_001287184 NM_175914 NM_178849 XM_005260407
HUGO HGNC:5024
OMIM 600281
CCDS CCDS13331 CCDS13330 CCDS42876 CCDS46604 CCDS46605 CCDS68131 CCDS74728
HPRD 02612
IMGT
EMBL AL132772 AY680696 AY680697 AY680698 BC137539 BC137540 CH471077 EF591040 U72959 U72961 U72962 U72963 U72964 U72965 U72966 U72967 U72968 U72969 X76930 X87870 X87871 X87872 Z49825
GenPept AAB48082 AAB48083 AAI37540 AAI37541 AAT91237 AAT91238 AAT91239 ABQ52204 CAA54248 CAA61133 CAA61134 CAA61135 CAA89989 CAC01303 CAI18856 EAW75924 EAW75925
RNA Seq Atlas 3172

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