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Details on Person UniProt:P41235-6 HNF4A

Class:IdReferenceIsoform:211473
_chainChangeLogchain:1-474 added on Fri February 6 2015
_displayNameUniProt:P41235-6 HNF4A
_timestamp2024-11-03 20:19:26
chainchain:1-474
checksum5F1309B89D95DCAF
commentFUNCTION Transcriptional regulator which controls the expression of hepatic genes during the transition of endodermal cells to hepatic progenitor cells, facilitating the recruitment of RNA pol II to the promoters of target genes (PubMed:30597922). Activates the transcription of CYP2C38 (By similarity). Represses the CLOCK-BMAL1 transcriptional activity and is essential for circadian rhythm maintenance and period regulation in the liver and colon cells (PubMed:30530698).SUBUNIT Homodimerization is required for HNF4-alpha to bind to its recognition site (PubMed:14982928). Interacts with CLOCK, BMAL1, CRY1, CRY2, PER1 and PER2 (PubMed:30530698). Interacts with NR0B2/SHP; the resulting heterodimer is transcriptionally inactive (PubMed:28128295). Interacts with DDX3X; this interaction disrupts the interaction between HNF4 and NR0B2 that forms inactive heterodimers and enhances the formation of active HNF4 homodimers (PubMed:28128295).INTERACTION Additional isoforms seem to exist.DOMAIN The 9aaTAD motif is a transactivation domain present in a large number of yeast and animal transcription factors.PTM Phosphorylated on tyrosine residue(s); phosphorylation is important for its DNA-binding activity. Phosphorylation may directly or indirectly play a regulatory role in the subnuclear distribution. Phosphorylation at Ser-313 by AMPK reduces the ability to form homodimers and bind DNA.PTM Acetylation at Lys-458 lowers transcriptional activation by about two-fold.DISEASE The disease is caused by variants affecting the gene represented in this entry.DISEASE Disease susceptibility may be associated with variants affecting the gene represented in this entry.DISEASE The disease is caused by variants affecting the gene represented in this entry.MISCELLANEOUS Binds fatty acids.MISCELLANEOUS Produced by alternative promoter usage.MISCELLANEOUS Produced by alternative splicing of isoform HNF4-Alpha-1.MISCELLANEOUS Produced by alternative splicing of isoform HNF4-Alpha-1.MISCELLANEOUS Produced by alternative splicing of isoform HNF4-Alpha-1.MISCELLANEOUS Produced by alternative promoter usage.MISCELLANEOUS Produced by alternative splicing of isoform HNF4-Alpha-7.MISCELLANEOUS Produced by alternative splicing of isoform HNF4-Alpha-7.SIMILARITY Belongs to the nuclear hormone receptor family. NR2 subfamily.SEQUENCE CAUTION Truncated N-terminus.SEQUENCE CAUTION Hepatocyte nuclear factors entry
created[InstanceEdit:211487] D'Eustachio, P, 2008-02-04 20:56:01
descriptionrecommendedName: Hepatocyte nuclear factor 4-alpha shortName: HNF-4-alpha alternativeName: Nuclear receptor subfamily 2 group A member 1 alternativeName: Transcription factor 14 shortName: TCF-14 alternativeName: Transcription factor HNF-4
geneNameHNF4A
HNF4
NR2A1
TCF14
identifierP41235
isoformParent
isSequenceChangedFALSE
keyword3D-structure
Acetylation
Activator
Alternative promoter usage
Alternative splicing
Biological rhythms
Diabetes mellitus
Disease variant
DNA-binding
Isopeptide bond
Metal-binding
Nucleus
Phosphoprotein
Proteomics identification
Receptor
Reference proteome
Repressor
Transcription
Transcription regulation
Ubl conjugation
Zinc
Zinc-finger
modified[InstanceEdit:9836292] Weiser, Joel, 2023-05-25
[InstanceEdit:9852000] Weiser, Joel, 2023-11-03
[InstanceEdit:9862192] Weiser, Joel, 2024-02-26
[InstanceEdit:9926675] Weiser, Joel, 2024-11-03
nameHNF4A
referenceDatabase[ReferenceDatabase:2] UniProt
referenceGene[ReferenceDNASequence:9001190] ENSEMBL:ENSG00000101076 HNF4A [Homo sapiens]
secondaryIdentifierHNF4A_HUMAN
A5JW41
B2RPP8
O00659
O00723
Q14540
Q5QPB8
Q6B4V5
Q6B4V6
Q6B4V7
Q92653
Q92654
Q92655
Q99864
Q9NQH0
sequenceLength474
species[Species:48887] Homo sapiens
variantIdentifierP41235-6
(referenceEntity)[EntityWithAccessionedSequence:211463] HNF4A-6 [nucleoplasm] [Homo sapiens]
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