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Protein

Hepatocyte nuclear factor 4-alpha

Gene

HNF4A

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

Transcriptionally controlled transcription factor. Binds to DNA sites required for the transcription of alpha 1-antitrypsin, apolipoprotein CIII, transthyretin genes and HNF1-alpha. May be essential for development of the liver, kidney and intestine.

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
DNA bindingi57 – 132Nuclear receptorPROSITE-ProRule annotationAdd BLAST76
Zinc fingeri60 – 80NR C4-typePROSITE-ProRule annotationAdd BLAST21
Zinc fingeri96 – 120NR C4-typePROSITE-ProRule annotationAdd BLAST25

GO - Molecular functioni

GO - Biological processi

  • blood coagulation Source: BHF-UCL
  • glucose homeostasis Source: BHF-UCL
  • lipid homeostasis Source: BHF-UCL
  • lipid metabolic process Source: Ensembl
  • negative regulation of cell growth Source: BHF-UCL
  • negative regulation of cell proliferation Source: BHF-UCL
  • ornithine metabolic process Source: BHF-UCL
  • phospholipid homeostasis Source: BHF-UCL
  • positive regulation of cholesterol homeostasis Source: BHF-UCL
  • positive regulation of transcription, DNA-templated Source: BHF-UCL
  • positive regulation of transcription from RNA polymerase II promoter Source: BHF-UCL
  • regulation of gastrulation Source: Ensembl
  • regulation of growth hormone receptor signaling pathway Source: BHF-UCL
  • regulation of insulin secretion Source: BHF-UCL
  • regulation of lipid metabolic process Source: BHF-UCL
  • regulation of transcription from RNA polymerase II promoter Source: BHF-UCL
  • response to glucose Source: BHF-UCL
  • sex differentiation Source: Ensembl
  • signal transduction involved in regulation of gene expression Source: Ensembl
  • SMAD protein signal transduction Source: Ensembl
  • transcription initiation from RNA polymerase II promoter Source: Reactome
  • triglyceride homeostasis Source: BHF-UCL
  • xenobiotic metabolic process Source: BHF-UCL
Complete GO annotation...

Keywords - Molecular functioni

Receptor

Keywords - Biological processi

Transcription, Transcription regulation

Keywords - Ligandi

DNA-binding, Metal-binding, Zinc

Enzyme and pathway databases

BioCyciZFISH:ENSG00000101076-MONOMER.
ReactomeiR-HSA-210745. Regulation of gene expression in beta cells.
R-HSA-383280. Nuclear Receptor transcription pathway.
SignaLinkiP41235.
SIGNORiP41235.

Names & Taxonomyi

Protein namesi
Recommended name:
Hepatocyte nuclear factor 4-alpha
Short name:
HNF-4-alpha
Alternative name(s):
Nuclear receptor subfamily 2 group A member 1
Transcription factor 14
Short name:
TCF-14
Transcription factor HNF-4
Gene namesi
Name:HNF4A
Synonyms:HNF4, NR2A1, TCF14
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 20

Organism-specific databases

HGNCiHGNC:5024. HNF4A.

Subcellular locationi

GO - Cellular componenti

  • cytoplasm Source: BHF-UCL
  • nucleoplasm Source: Reactome
  • nucleus Source: BHF-UCL
Complete GO annotation...

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Involvement in diseasei

Maturity-onset diabetes of the young 1 (MODY1)3 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA form of diabetes that is characterized by an autosomal dominant mode of inheritance, onset in childhood or early adulthood (usually before 25 years of age), a primary defect in insulin secretion and frequent insulin-independence at the beginning of the disease.
See also OMIM:125850
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_004668136R → W in MODY1. 1 PublicationCorresponds to variant rs137853336dbSNPEnsembl.1
Natural variantiVAR_010601285E → Q in MODY1; results in loss of function. 2 Publications1
Natural variantiVAR_071952373M → R in MODY1. 1 PublicationCorresponds to variant rs137853338dbSNPEnsembl.1
Diabetes mellitus, non-insulin-dependent (NIDDM)1 Publication
Disease susceptibility may be associated with variations affecting the gene represented in this entry.
Disease descriptionA multifactorial disorder of glucose homeostasis caused by a lack of sensitivity to the body's own insulin. Affected individuals usually have an obese body habitus and manifestations of a metabolic syndrome characterized by diabetes, insulin resistance, hypertension and hypertriglyceridemia. The disease results in long-term complications that affect the eyes, kidneys, nerves, and blood vessels.
See also OMIM:125853
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_004670402V → I in NIDDM; reduced transactivation activity. 1 PublicationCorresponds to variant rs137853337dbSNPEnsembl.1
Fanconi renotubular syndrome 4 with maturity-onset diabetes of the young (FRTS4)2 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA disease characterized by Fanconi syndrome associated with a beta cell phenotype of neonatal hyperinsulinism with macrosomia and young onset diabetes. Fanconi syndrome is a proximal tubulopathy resulting in generalised aminoaciduria, low molecular weight proteinuria, glycosuria, hyperphosphaturia and hypouricemia. Some FRTS4 patients have nephrocalcinosis, renal impairment, hypercalciuria with relative hypocalcemia, and hypermagnesemia.
See also OMIM:616026
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_07195185R → W in FRTS4. 2 PublicationsCorresponds to variant rs587777732dbSNPEnsembl.1

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Mutagenesisi313S → A: Abolishes AMPK-mediated phosphorylation. 1 Publication1
Mutagenesisi313S → D: Phosphomimetic mutant that leads to reduced ability to bind DNA. 1 Publication1

Keywords - Diseasei

Diabetes mellitus, Disease mutation

Organism-specific databases

DisGeNETi3172.
MalaCardsiHNF4A.
MIMi125850. phenotype.
125853. phenotype.
606391. phenotype.
616026. phenotype.
OpenTargetsiENSG00000101076.
Orphaneti263455. Hyperinsulinism due to HNF4A deficiency.
552. MODY.
PharmGKBiPA29349.

Chemistry databases

ChEMBLiCHEMBL5398.

Polymorphism and mutation databases

BioMutaiHNF4A.
DMDMi148886624.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000535581 – 474Hepatocyte nuclear factor 4-alphaAdd BLAST474

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei142Phosphoserine1 Publication1
Modified residuei144PhosphotyrosineCombined sources1
Modified residuei166Phosphothreonine1 Publication1
Modified residuei167Phosphoserine1 Publication1
Cross-linki234Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin)1 Publication
Cross-linki307Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin)1 Publication
Modified residuei313Phosphoserine; by AMPK1 Publication1
Modified residuei429PhosphothreonineCombined sources1
Modified residuei432PhosphothreonineCombined sources1 Publication1
Modified residuei436PhosphoserineCombined sources1 Publication1
Modified residuei458N6-acetyllysine1 Publication1

Post-translational modificationi

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.3 Publications
Acetylation at Lys-458 lowers transcriptional activation by about two-fold.1 Publication

Keywords - PTMi

Acetylation, Isopeptide bond, Phosphoprotein, Ubl conjugation

Proteomic databases

MaxQBiP41235.
PaxDbiP41235.
PeptideAtlasiP41235.
PRIDEiP41235.

PTM databases

iPTMnetiP41235.
PhosphoSitePlusiP41235.

Expressioni

Gene expression databases

BgeeiENSG00000101076.
ExpressionAtlasiP41235. baseline and differential.
GenevisibleiP41235. HS.

Organism-specific databases

HPAiCAB019417.
HPA004712.

Interactioni

Subunit structurei

Homodimerization is required for HNF4-alpha to bind to its recognition site. Interacts with PER2.

Binary interactionsi

WithEntry#Exp.IntActNotes
CITED2Q999673EBI-1049011,EBI-937732
FOXO6A8MYZ62EBI-1049011,EBI-8531039
NR3C1P041502EBI-1049011,EBI-493507
PPARGC1AQ9UBK24EBI-1049011,EBI-765486
PROX1Q927863EBI-1049011,EBI-3912635
SFPQP232462EBI-1049011,EBI-355453
SREBF2Q127722EBI-1049011,EBI-465059

GO - Molecular functioni

  • protein homodimerization activity Source: BHF-UCL
  • receptor binding Source: BHF-UCL
  • RNA polymerase II activating transcription factor binding Source: BHF-UCL

Protein-protein interaction databases

BioGridi109414. 64 interactors.
DIPiDIP-499N.
IntActiP41235. 12 interactors.
MINTiMINT-269829.
STRINGi9606.ENSP00000312987.

Chemistry databases

BindingDBiP41235.

Structurei

Secondary structure

1474
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Turni61 – 63Combined sources3
Beta strandi64 – 66Combined sources3
Beta strandi69 – 71Combined sources3
Helixi78 – 89Combined sources12
Beta strandi97 – 100Combined sources4
Turni106 – 111Combined sources6
Helixi113 – 123Combined sources11
Helixi127 – 129Combined sources3
Helixi149 – 153Combined sources5
Helixi155 – 163Combined sources9
Turni176 – 178Combined sources3
Helixi184 – 202Combined sources19
Helixi206 – 209Combined sources4
Helixi213 – 222Combined sources10
Helixi224 – 236Combined sources13
Beta strandi239 – 244Combined sources6
Beta strandi250 – 254Combined sources5
Helixi256 – 261Combined sources6
Helixi262 – 271Combined sources10
Helixi273 – 279Combined sources7
Helixi283 – 294Combined sources12
Helixi305 – 324Combined sources20
Beta strandi325 – 328Combined sources4
Helixi333 – 338Combined sources6
Helixi340 – 360Combined sources21
Helixi368 – 374Combined sources7

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
1PZLX-ray2.10A142-378[»]
3CBBX-ray2.00A/B58-135[»]
3FS1X-ray2.20A148-377[»]
4B7WX-ray4.00A/B/C/D142-377[»]
4IQRX-ray2.90A/B/E/F55-377[»]
ProteinModelPortaliP41235.
SMRiP41235.
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiP41235.

Family & Domainsi

Sequence similaritiesi

Contains 1 nuclear receptor DNA-binding domain.PROSITE-ProRule annotation

Zinc finger

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Zinc fingeri60 – 80NR C4-typePROSITE-ProRule annotationAdd BLAST21
Zinc fingeri96 – 120NR C4-typePROSITE-ProRule annotationAdd BLAST25

Keywords - Domaini

Zinc-finger

Phylogenomic databases

eggNOGiKOG4215. Eukaryota.
ENOG410XQT8. LUCA.
GeneTreeiENSGT00760000118948.
HOVERGENiHBG005606.
InParanoidiP41235.
KOiK07292.
OMAiANTMPSH.
OrthoDBiEOG091G0A89.
PhylomeDBiP41235.
TreeFamiTF352097.

Family and domain databases

Gene3Di1.10.565.10. 1 hit.
3.30.50.10. 1 hit.
InterProiIPR003068. COUP_TF.
IPR000536. Nucl_hrmn_rcpt_lig-bd.
IPR001723. Nuclear_hrmn_rcpt.
IPR001628. Znf_hrmn_rcpt.
IPR013088. Znf_NHR/GATA.
[Graphical view]
PfamiPF00104. Hormone_recep. 1 hit.
PF00105. zf-C4. 1 hit.
[Graphical view]
PRINTSiPR01282. COUPTNFACTOR.
PR00398. STRDHORMONER.
PR00047. STROIDFINGER.
SMARTiSM00430. HOLI. 1 hit.
SM00399. ZnF_C4. 1 hit.
[Graphical view]
SUPFAMiSSF48508. SSF48508. 1 hit.
PROSITEiPS00031. NUCLEAR_REC_DBD_1. 1 hit.
PS51030. NUCLEAR_REC_DBD_2. 1 hit.
[Graphical view]

Sequences (7)i

Sequence statusi: Complete.

This entry describes 7 isoformsi produced by alternative promoter usage and alternative splicing. AlignAdd to basket

Note: Additional isoforms seem to exist.
Isoform HNF4-Alpha-1 (identifier: P41235-1) [UniParc]FASTAAdd to basket
Also known as: HNF-4B

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MRLSKTLVDM DMADYSAALD PAYTTLEFEN VQVLTMGNDT SPSEGTNLNA
60 70 80 90 100
PNSLGVSALC AICGDRATGK HYGASSCDGC KGFFRRSVRK NHMYSCRFSR
110 120 130 140 150
QCVVDKDKRN QCRYCRLKKC FRAGMKKEAV QNERDRISTR RSSYEDSSLP
160 170 180 190 200
SINALLQAEV LSRQITSPVS GINGDIRAKK IASIADVCES MKEQLLVLVE
210 220 230 240 250
WAKYIPAFCE LPLDDQVALL RAHAGEHLLL GATKRSMVFK DVLLLGNDYI
260 270 280 290 300
VPRHCPELAE MSRVSIRILD ELVLPFQELQ IDDNEYAYLK AIIFFDPDAK
310 320 330 340 350
GLSDPGKIKR LRSQVQVSLE DYINDRQYDS RGRFGELLLL LPTLQSITWQ
360 370 380 390 400
MIEQIQFIKL FGMAKIDNLL QEMLLGGSPS DAPHAHHPLH PHLMQEHMGT
410 420 430 440 450
NVIVANTMPT HLSNGQMCEW PRPRGQAATP ETPQPSPPGG SGSEPYKLLP
460 470
GAVATIVKPL SAIPQPTITK QEVI
Note: Produced by alternative promoter usage.
Length:474
Mass (Da):52,785
Last modified:May 29, 2007 - v3
Checksum:i5F1309B89D95DCAF
GO
Isoform HNF4-Alpha-2 (identifier: P41235-2) [UniParc]FASTAAdd to basket
Also known as: HNF4-A

The sequence of this isoform differs from the canonical sequence as follows:
     418-428: CEWPRPRGQAA → S

Note: Produced by alternative splicing of isoform HNF4-Alpha-1.
Show »
Length:464
Mass (Da):51,619
Checksum:iFF0A4FB233ADCC56
GO
Isoform HNF4-Alpha-3 (identifier: P41235-3) [UniParc]FASTAAdd to basket
Also known as: HNF4-C

The sequence of this isoform differs from the canonical sequence as follows:
     378-474: SPSDAPHAHH...QPTITKQEVI → PCQAQEGRGW...SPLCRFGQVA

Note: Produced by alternative splicing of isoform HNF4-Alpha-1.
Show »
Length:417
Mass (Da):46,623
Checksum:iDE7D9F4F6436EFE2
GO
Isoform HNF4-Alpha-4 (identifier: P41235-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     38-38: N → NDLLPLRLARLRHPLRHHWSISGGVDSSPQG

Note: Produced by alternative splicing of isoform HNF4-Alpha-1.
Show »
Length:504
Mass (Da):56,139
Checksum:iF291EFDE331E9338
GO
Isoform HNF4-Alpha-7 (identifier: P41235-5) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-38: MRLSKTLVDMDMADYSAALDPAYTTLEFENVQVLTMGN → MVSVNAPLGAPVESSY

Note: Produced by alternative promoter usage.
Show »
Length:452
Mass (Da):50,150
Checksum:i96854D18F389B0F9
GO
Isoform HNF4-Alpha-8 (identifier: P41235-6) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-38: MRLSKTLVDMDMADYSAALDPAYTTLEFENVQVLTMGN → MVSVNAPLGAPVESSY
     418-428: CEWPRPRGQAA → S

Note: Produced by alternative splicing of isoform HNF4-Alpha-7.
Show »
Length:442
Mass (Da):48,984
Checksum:i8FD1619FC51F7217
GO
Isoform HNF4-Alpha-9 (identifier: P41235-7) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-38: MRLSKTLVDMDMADYSAALDPAYTTLEFENVQVLTMGN → MVSVNAPLGAPVESSY
     378-474: SPSDAPHAHH...QPTITKQEVI → PCQAQEGRGW...SPLCRFGQVA

Note: Produced by alternative splicing of isoform HNF4-Alpha-7.
Show »
Length:395
Mass (Da):43,988
Checksum:iDC25511938ED9EF0
GO

Sequence cautioni

The sequence AAB48082 differs from that shown. Reason: Erroneous gene model prediction.Curated
The sequence CAA54248 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated
The sequence CAA61133 differs from that shown. Reason: Frameshift at positions 2 and 7.Curated
The sequence CAA61134 differs from that shown. Reason: Frameshift at positions 2 and 7.Curated
The sequence CAA61135 differs from that shown. Reason: Frameshift at positions 2 and 7.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti440G → A in CAA54248 (PubMed:7926813).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_07195185R → W in FRTS4. 2 PublicationsCorresponds to variant rs587777732dbSNPEnsembl.1
Natural variantiVAR_004668136R → W in MODY1. 1 PublicationCorresponds to variant rs137853336dbSNPEnsembl.1
Natural variantiVAR_004669139T → I.2 PublicationsCorresponds to variant rs1800961dbSNPEnsembl.1
Natural variantiVAR_010600264V → M Rare polymorphism found in a patient with non-insulin-dependent diabetes mellitus; does not affect activity. 1 PublicationCorresponds to variant rs139779712dbSNPEnsembl.1
Natural variantiVAR_010601285E → Q in MODY1; results in loss of function. 2 Publications1
Natural variantiVAR_071952373M → R in MODY1. 1 PublicationCorresponds to variant rs137853338dbSNPEnsembl.1
Natural variantiVAR_004670402V → I in NIDDM; reduced transactivation activity. 1 PublicationCorresponds to variant rs137853337dbSNPEnsembl.1
Natural variantiVAR_011785445P → S.1 PublicationCorresponds to variant rs1063239dbSNPEnsembl.1
Natural variantiVAR_062267453V → I.1 PublicationCorresponds to variant rs776824742dbSNPEnsembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0260301 – 38MRLSK…LTMGN → MVSVNAPLGAPVESSY in isoform HNF4-Alpha-7, isoform HNF4-Alpha-8 and isoform HNF4-Alpha-9. CuratedAdd BLAST38
Alternative sequenceiVSP_00367338N → NDLLPLRLARLRHPLRHHWS ISGGVDSSPQG in isoform HNF4-Alpha-4. Curated1
Alternative sequenceiVSP_003675378 – 474SPSDA…KQEVI → PCQAQEGRGWSGDSPGDRPH TVSSPLSSLASPLCRFGQVA in isoform HNF4-Alpha-3 and isoform HNF4-Alpha-9. 2 PublicationsAdd BLAST97
Alternative sequenceiVSP_003674418 – 428CEWPRPRGQAA → S in isoform HNF4-Alpha-2 and isoform HNF4-Alpha-8. 1 PublicationAdd BLAST11

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
X87870 mRNA. Translation: CAA61133.1. Frameshift.
X87871 mRNA. Translation: CAA61134.1. Frameshift.
X87872 mRNA. Translation: CAA61135.1. Frameshift.
Z49825 mRNA. Translation: CAA89989.1.
AY680696 mRNA. Translation: AAT91237.1.
AY680697 mRNA. Translation: AAT91238.1.
AY680698 mRNA. Translation: AAT91239.1.
U72969
, U72959, U72961, U72962, U72963, U72964, U72965, U72966, U72967, U72968 Genomic DNA. Translation: AAB48082.1. Sequence problems.
U72967
, U72959, U72961, U72962, U72963, U72964, U72965, U72966 Genomic DNA. Translation: AAB48083.1.
EF591040 Genomic DNA. Translation: ABQ52204.1.
AL132772 Genomic DNA. Translation: CAC01303.1.
AL132772 Genomic DNA. Translation: CAI18856.1.
CH471077 Genomic DNA. Translation: EAW75924.1.
CH471077 Genomic DNA. Translation: EAW75925.1.
BC137539 mRNA. Translation: AAI37540.1.
BC137540 mRNA. Translation: AAI37541.1.
X76930 mRNA. Translation: CAA54248.1. Different initiation.
CCDSiCCDS13330.1. [P41235-1]
CCDS13331.1. [P41235-3]
CCDS42876.1. [P41235-5]
CCDS46604.1. [P41235-6]
CCDS46605.1. [P41235-2]
CCDS68131.1. [P41235-7]
PIRiJC4937.
JC4938.
JC6096.
RefSeqiNP_000448.3. NM_000457.4. [P41235-1]
NP_001025174.1. NM_001030003.2. [P41235-6]
NP_001025175.1. NM_001030004.2. [P41235-7]
NP_001245284.1. NM_001258355.1.
NP_001274111.1. NM_001287182.1.
NP_001274112.1. NM_001287183.1.
NP_001274113.1. NM_001287184.1.
NP_787110.2. NM_175914.4. [P41235-5]
NP_849181.1. NM_178850.2. [P41235-3]
UniGeneiHs.116462.

Genome annotation databases

EnsembliENST00000316099; ENSP00000312987; ENSG00000101076. [P41235-1]
ENST00000316673; ENSP00000315180; ENSG00000101076. [P41235-5]
ENST00000415691; ENSP00000412111; ENSG00000101076. [P41235-2]
ENST00000443598; ENSP00000410911; ENSG00000101076. [P41235-3]
ENST00000457232; ENSP00000396216; ENSG00000101076. [P41235-6]
ENST00000609795; ENSP00000476609; ENSG00000101076. [P41235-7]
GeneIDi3172.
KEGGihsa:3172.
UCSCiuc002xlt.4. human. [P41235-1]

Keywords - Coding sequence diversityi

Alternative promoter usage, Alternative splicing, Polymorphism

Cross-referencesi

Web resourcesi

Wikipedia

Hepatocyte nuclear factors entry

SeattleSNPs

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
X87870 mRNA. Translation: CAA61133.1. Frameshift.
X87871 mRNA. Translation: CAA61134.1. Frameshift.
X87872 mRNA. Translation: CAA61135.1. Frameshift.
Z49825 mRNA. Translation: CAA89989.1.
AY680696 mRNA. Translation: AAT91237.1.
AY680697 mRNA. Translation: AAT91238.1.
AY680698 mRNA. Translation: AAT91239.1.
U72969
, U72959, U72961, U72962, U72963, U72964, U72965, U72966, U72967, U72968 Genomic DNA. Translation: AAB48082.1. Sequence problems.
U72967
, U72959, U72961, U72962, U72963, U72964, U72965, U72966 Genomic DNA. Translation: AAB48083.1.
EF591040 Genomic DNA. Translation: ABQ52204.1.
AL132772 Genomic DNA. Translation: CAC01303.1.
AL132772 Genomic DNA. Translation: CAI18856.1.
CH471077 Genomic DNA. Translation: EAW75924.1.
CH471077 Genomic DNA. Translation: EAW75925.1.
BC137539 mRNA. Translation: AAI37540.1.
BC137540 mRNA. Translation: AAI37541.1.
X76930 mRNA. Translation: CAA54248.1. Different initiation.
CCDSiCCDS13330.1. [P41235-1]
CCDS13331.1. [P41235-3]
CCDS42876.1. [P41235-5]
CCDS46604.1. [P41235-6]
CCDS46605.1. [P41235-2]
CCDS68131.1. [P41235-7]
PIRiJC4937.
JC4938.
JC6096.
RefSeqiNP_000448.3. NM_000457.4. [P41235-1]
NP_001025174.1. NM_001030003.2. [P41235-6]
NP_001025175.1. NM_001030004.2. [P41235-7]
NP_001245284.1. NM_001258355.1.
NP_001274111.1. NM_001287182.1.
NP_001274112.1. NM_001287183.1.
NP_001274113.1. NM_001287184.1.
NP_787110.2. NM_175914.4. [P41235-5]
NP_849181.1. NM_178850.2. [P41235-3]
UniGeneiHs.116462.

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
1PZLX-ray2.10A142-378[»]
3CBBX-ray2.00A/B58-135[»]
3FS1X-ray2.20A148-377[»]
4B7WX-ray4.00A/B/C/D142-377[»]
4IQRX-ray2.90A/B/E/F55-377[»]
ProteinModelPortaliP41235.
SMRiP41235.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi109414. 64 interactors.
DIPiDIP-499N.
IntActiP41235. 12 interactors.
MINTiMINT-269829.
STRINGi9606.ENSP00000312987.

Chemistry databases

BindingDBiP41235.
ChEMBLiCHEMBL5398.

PTM databases

iPTMnetiP41235.
PhosphoSitePlusiP41235.

Polymorphism and mutation databases

BioMutaiHNF4A.
DMDMi148886624.

Proteomic databases

MaxQBiP41235.
PaxDbiP41235.
PeptideAtlasiP41235.
PRIDEiP41235.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000316099; ENSP00000312987; ENSG00000101076. [P41235-1]
ENST00000316673; ENSP00000315180; ENSG00000101076. [P41235-5]
ENST00000415691; ENSP00000412111; ENSG00000101076. [P41235-2]
ENST00000443598; ENSP00000410911; ENSG00000101076. [P41235-3]
ENST00000457232; ENSP00000396216; ENSG00000101076. [P41235-6]
ENST00000609795; ENSP00000476609; ENSG00000101076. [P41235-7]
GeneIDi3172.
KEGGihsa:3172.
UCSCiuc002xlt.4. human. [P41235-1]

Organism-specific databases

CTDi3172.
DisGeNETi3172.
GeneCardsiHNF4A.
GeneReviewsiHNF4A.
HGNCiHGNC:5024. HNF4A.
HPAiCAB019417.
HPA004712.
MalaCardsiHNF4A.
MIMi125850. phenotype.
125853. phenotype.
600281. gene.
606391. phenotype.
616026. phenotype.
neXtProtiNX_P41235.
OpenTargetsiENSG00000101076.
Orphaneti263455. Hyperinsulinism due to HNF4A deficiency.
552. MODY.
PharmGKBiPA29349.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG4215. Eukaryota.
ENOG410XQT8. LUCA.
GeneTreeiENSGT00760000118948.
HOVERGENiHBG005606.
InParanoidiP41235.
KOiK07292.
OMAiANTMPSH.
OrthoDBiEOG091G0A89.
PhylomeDBiP41235.
TreeFamiTF352097.

Enzyme and pathway databases

BioCyciZFISH:ENSG00000101076-MONOMER.
ReactomeiR-HSA-210745. Regulation of gene expression in beta cells.
R-HSA-383280. Nuclear Receptor transcription pathway.
SignaLinkiP41235.
SIGNORiP41235.

Miscellaneous databases

EvolutionaryTraceiP41235.
GeneWikiiHepatocyte_nuclear_factor_4_alpha.
GenomeRNAii3172.
PROiP41235.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000101076.
ExpressionAtlasiP41235. baseline and differential.
GenevisibleiP41235. HS.

Family and domain databases

Gene3Di1.10.565.10. 1 hit.
3.30.50.10. 1 hit.
InterProiIPR003068. COUP_TF.
IPR000536. Nucl_hrmn_rcpt_lig-bd.
IPR001723. Nuclear_hrmn_rcpt.
IPR001628. Znf_hrmn_rcpt.
IPR013088. Znf_NHR/GATA.
[Graphical view]
PfamiPF00104. Hormone_recep. 1 hit.
PF00105. zf-C4. 1 hit.
[Graphical view]
PRINTSiPR01282. COUPTNFACTOR.
PR00398. STRDHORMONER.
PR00047. STROIDFINGER.
SMARTiSM00430. HOLI. 1 hit.
SM00399. ZnF_C4. 1 hit.
[Graphical view]
SUPFAMiSSF48508. SSF48508. 1 hit.
PROSITEiPS00031. NUCLEAR_REC_DBD_1. 1 hit.
PS51030. NUCLEAR_REC_DBD_2. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiHNF4A_HUMAN
AccessioniPrimary (citable) accession number: P41235
Secondary accession number(s): A5JW41
, B2RPP8, O00659, O00723, Q14540, Q5QPB8, Q6B4V5, Q6B4V6, Q6B4V7, Q92653, Q92654, Q92655, Q99864, Q9NQH0
Entry historyi
Integrated into UniProtKB/Swiss-Prot: February 1, 1995
Last sequence update: May 29, 2007
Last modified: November 2, 2016
This is version 197 of the entry and version 3 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Miscellaneous

Binds fatty acids.

Keywords - Technical termi

3D-structure, Complete proteome, Reference proteome

Documents

  1. Human chromosome 20
    Human chromosome 20: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  6. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.