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Protein

Hepatocyte nuclear factor 4-alpha

Gene

HNF4A

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -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.

Miscellaneous

Binds fatty acids.

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

Keywordsi

Molecular functionDNA-binding, Receptor
Biological processTranscription, Transcription regulation
LigandMetal-binding, Zinc

Enzyme and pathway databases

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

EuPathDBiHostDB:ENSG00000101076.16
HGNCiHGNC:5024 HNF4A
MIMi600281 gene
neXtProtiNX_P41235

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Involvement in diseasei

Maturity-onset diabetes of the young 1 (MODY1)4 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 dbSNP:rs137853336Ensembl.1
Natural variantiVAR_010601285E → Q in MODY1; results in loss of function. 2 Publications1
Natural variantiVAR_071952373M → R in MODY1. 1 PublicationCorresponds to variant dbSNP:rs137853338EnsemblClinVar.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 dbSNP:rs137853337Ensembl.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 dbSNP:rs587777732EnsemblClinVar.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
GeneReviewsiHNF4A
MalaCardsiHNF4A
MIMi125850 phenotype
125853 phenotype
606391 phenotype
616026 phenotype
OpenTargetsiENSG00000101076
Orphaneti263455 Hyperinsulinism due to HNF4A deficiency
552 MODY
93111 Renal cysts and diabetes syndrome
PharmGKBiPA29349

Chemistry databases

ChEMBLiCHEMBL5398
DrugBankiDB05447 AVI-4557
DB03017 Lauric Acid
DB08231 MYRISTIC ACID

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 residuei143PhosphoserineBy similarity1
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
ProteomicsDBi55441
55442 [P41235-2]
55443 [P41235-3]
55444 [P41235-4]
55445 [P41235-5]
55446 [P41235-6]
55447 [P41235-7]

PTM databases

iPTMnetiP41235
PhosphoSitePlusiP41235

Expressioni

Gene expression databases

BgeeiENSG00000101076 Expressed in 113 organ(s), highest expression level in liver
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

GO - Molecular functioni

Protein-protein interaction databases

BioGridi109414, 72 interactors
CORUMiP41235
DIPiDIP-499N
IntActiP41235, 15 interactors
MINTiP41235
STRINGi9606.ENSP00000312987

Chemistry databases

BindingDBiP41235

Structurei

Secondary structure

1474
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

ProteinModelPortaliP41235
SMRiP41235
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiP41235

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini147 – 377NR LBDPROSITE-ProRule annotationAdd BLAST231

Sequence similaritiesi

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
OMAiKRMRYQV
OrthoDBiEOG091G0A89
PhylomeDBiP41235
TreeFamiTF352097

Family and domain databases

Gene3Di3.30.50.10, 1 hit
InterProiView protein in InterPro
IPR003068 COUP_TF
IPR039067 HNF4A
IPR035500 NHR_like_dom_sf
IPR000536 Nucl_hrmn_rcpt_lig-bd
IPR001723 Nuclear_hrmn_rcpt
IPR001628 Znf_hrmn_rcpt
IPR013088 Znf_NHR/GATA
PANTHERiPTHR24083:SF41 PTHR24083:SF41, 1 hit
PfamiView protein in Pfam
PF00104 Hormone_recep, 1 hit
PF00105 zf-C4, 1 hit
PRINTSiPR01282 COUPTNFACTOR
PR00398 STRDHORMONER
PR00047 STROIDFINGER
SMARTiView protein in SMART
SM00430 HOLI, 1 hit
SM00399 ZnF_C4, 1 hit
SUPFAMiSSF48508 SSF48508, 1 hit
PROSITEiView protein in PROSITE
PS51843 NR_LBD, 1 hit
PS00031 NUCLEAR_REC_DBD_1, 1 hit
PS51030 NUCLEAR_REC_DBD_2, 1 hit

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.

This entry has 7 described isoforms and 3 potential isoforms that are computationally mapped.Show allAlign All

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

Computationally mapped potential isoform sequencesi

There are 3 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
A0A087WXV4A0A087WXV4_HUMAN
Hepatocyte nuclear factor 4-alpha
HNF4A
449Annotation score:
B9VVT8B9VVT8_HUMAN
HNF4alpha10/11/12
HNF4A HNF4alpha
103Annotation score:
F8WBS7F8WBS7_HUMAN
Hepatocyte nuclear factor 4-alpha
HNF4A
107Annotation score:

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 dbSNP:rs587777732EnsemblClinVar.1
Natural variantiVAR_004668136R → W in MODY1. 1 PublicationCorresponds to variant dbSNP:rs137853336Ensembl.1
Natural variantiVAR_004669139T → I2 PublicationsCorresponds to variant dbSNP:rs1800961EnsemblClinVar.1
Natural variantiVAR_010600264V → M Rare polymorphism found in a patient with non-insulin-dependent diabetes mellitus; does not affect activity. 2 PublicationsCorresponds to variant dbSNP:rs139779712Ensembl.1
Natural variantiVAR_010601285E → Q in MODY1; results in loss of function. 2 Publications1
Natural variantiVAR_071952373M → R in MODY1. 1 PublicationCorresponds to variant dbSNP:rs137853338EnsemblClinVar.1
Natural variantiVAR_004670402V → I in NIDDM; reduced transactivation activity. 1 PublicationCorresponds to variant dbSNP:rs137853337Ensembl.1
Natural variantiVAR_011785445P → S1 PublicationCorresponds to variant dbSNP:rs1063239EnsemblClinVar.1
Natural variantiVAR_062267453V → I1 PublicationCorresponds to variant dbSNP:rs776824742Ensembl.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 No translation available.
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

Similar proteinsi

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 No translation available.
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, 72 interactors
CORUMiP41235
DIPiDIP-499N
IntActiP41235, 15 interactors
MINTiP41235
STRINGi9606.ENSP00000312987

Chemistry databases

BindingDBiP41235
ChEMBLiCHEMBL5398
DrugBankiDB05447 AVI-4557
DB03017 Lauric Acid
DB08231 MYRISTIC ACID

PTM databases

iPTMnetiP41235
PhosphoSitePlusiP41235

Polymorphism and mutation databases

BioMutaiHNF4A
DMDMi148886624

Proteomic databases

MaxQBiP41235
PaxDbiP41235
PeptideAtlasiP41235
PRIDEiP41235
ProteomicsDBi55441
55442 [P41235-2]
55443 [P41235-3]
55444 [P41235-4]
55445 [P41235-5]
55446 [P41235-6]
55447 [P41235-7]

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
EuPathDBiHostDB:ENSG00000101076.16
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
93111 Renal cysts and diabetes syndrome
PharmGKBiPA29349
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG4215 Eukaryota
ENOG410XQT8 LUCA
GeneTreeiENSGT00760000118948
HOVERGENiHBG005606
InParanoidiP41235
KOiK07292
OMAiKRMRYQV
OrthoDBiEOG091G0A89
PhylomeDBiP41235
TreeFamiTF352097

Enzyme and pathway databases

ReactomeiR-HSA-210745 Regulation of gene expression in beta cells
R-HSA-383280 Nuclear Receptor transcription pathway
SignaLinkiP41235
SIGNORiP41235

Miscellaneous databases

ChiTaRSiHNF4A human
EvolutionaryTraceiP41235
GeneWikiiHepatocyte_nuclear_factor_4_alpha
GenomeRNAii3172
PROiPR:P41235
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000101076 Expressed in 113 organ(s), highest expression level in liver
ExpressionAtlasiP41235 baseline and differential
GenevisibleiP41235 HS

Family and domain databases

Gene3Di3.30.50.10, 1 hit
InterProiView protein in InterPro
IPR003068 COUP_TF
IPR039067 HNF4A
IPR035500 NHR_like_dom_sf
IPR000536 Nucl_hrmn_rcpt_lig-bd
IPR001723 Nuclear_hrmn_rcpt
IPR001628 Znf_hrmn_rcpt
IPR013088 Znf_NHR/GATA
PANTHERiPTHR24083:SF41 PTHR24083:SF41, 1 hit
PfamiView protein in Pfam
PF00104 Hormone_recep, 1 hit
PF00105 zf-C4, 1 hit
PRINTSiPR01282 COUPTNFACTOR
PR00398 STRDHORMONER
PR00047 STROIDFINGER
SMARTiView protein in SMART
SM00430 HOLI, 1 hit
SM00399 ZnF_C4, 1 hit
SUPFAMiSSF48508 SSF48508, 1 hit
PROSITEiView protein in PROSITE
PS51843 NR_LBD, 1 hit
PS00031 NUCLEAR_REC_DBD_1, 1 hit
PS51030 NUCLEAR_REC_DBD_2, 1 hit
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 historyiIntegrated into UniProtKB/Swiss-Prot: February 1, 1995
Last sequence update: May 29, 2007
Last modified: November 7, 2018
This is version 216 of the entry and version 3 of the sequence. See 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

Keywords - Technical termi

3D-structure, Complete proteome, Reference proteome

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  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. Human chromosome 20
    Human chromosome 20: entries, gene names and cross-references to MIM
  6. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
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