HNF4A
entrez
3172
canonical
uniprot
P41235
canonical
ensembl
ENSG00000101076
resolver
ensp
ENSP00000312987
resolver
ensp
ENSP00000315180
resolver
ensp
ENSP00000396216
resolver
ensp
ENSP00000410911
resolver
ensp
ENSP00000412111
resolver
ensp
ENSP00000476310
resolver
ensp
ENSP00000476609
resolver
enst
ENST00000609262
resolver
genesymbol
HNF4A
resolver
genesymbol
HNF4alpha
resolver
genesymbol
NR2A1
resolver
genesymbol_syn
HNF4
resolver
genesymbol_syn
HNF4A
resolver
genesymbol_syn
NR2A1
resolver
genesymbol_syn
TCF14
resolver
hgnc
HGNC:5024
resolver
uniprot
A5JW41
resolver
uniprot
B2RPP8
resolver
uniprot
B9VVT8
resolver
uniprot
F1D8S2
resolver
uniprot
F1D8T0
resolver
uniprot
F1D8T1
resolver
uniprot
O00659
resolver
uniprot
O00723
resolver
uniprot
Q14540
resolver
uniprot
Q5QPB8
resolver
uniprot
Q6B4V5
resolver
uniprot
Q6B4V6
resolver
uniprot
Q6B4V7
resolver
uniprot
Q92653
resolver
uniprot
Q92654
resolver
uniprot
Q92655
resolver
uniprot
Q99864
resolver
uniprot
Q9NQH0
resolver
uniprot
V9GY24
resolver
uniprot_entry
B9VVT8_HUMAN
resolver
uniprot_entry
F1D8S2_HUMAN
resolver
uniprot_entry
F1D8T0_HUMAN
resolver
uniprot_entry
F1D8T1_HUMAN
resolver
uniprot_entry
HNF4A_HUMAN
resolver
uniprot_entry
V9GY24_HUMAN
resolver
uniprot_sec
A5JW41
resolver
uniprot_sec
B2RPP8
resolver
uniprot_sec
O00659
resolver
uniprot_sec
O00723
resolver
uniprot_sec
Q14540
resolver
uniprot_sec
Q5QPB8
resolver
uniprot_sec
Q6B4V5
resolver
uniprot_sec
Q6B4V6
resolver
uniprot_sec
Q6B4V7
resolver
uniprot_sec
Q92653
resolver
uniprot_sec
Q92654
resolver
uniprot_sec
Q92655
resolver
uniprot_sec
Q99864
resolver
uniprot_sec
Q9NQH0
resolver
amino_acid_sequence
MRLSKTLVDMDMADYSAALDPAYTTLEFENVQVLTMGNDTSPSEGTNLNAPNSLGVSALCAICGDRATGKHYGASSCDGCKGFFRRSVRKNHMYSCRFSRQCVVDKDKRNQCRYCRLKKCFRAGMKKEAVQNERDRISTRRSSYEDSSLPSINALLQAEVLSRQITSPVSGINGDIRAKKIASIADVCESMKEQLLVLVEWAKYIPAFCELPLDDQVALLRAHAGEHLLLGATKRSMVFKDVLLLGNDYIVPRHCPELAEMSRVSIRILDELVLPFQELQIDDNEYAYLKAIIFFDPDAKGLSDPGKIKRLRSQVQVSLEDYINDRQYDSRGRFGELLLLLPTLQSITWQMIEQIQFIKLFGMAKIDNLLQEMLLGGSPSDAPHAHHPLHPHLMQEHMGTNVIVANTMPTHLSNGQMCEWPRPRGQAATPETPQPSPPGGSGSEPYKLLPGAVATIVKPLSAIPQPTITKQEVI
uniprot
proteins
disease_involvement
DISEASE: Maturity-onset diabetes of the young 1 (MODY1) [MIM:125850]: A 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. {ECO:0000269|PubMed:10389854, ECO:0000269|PubMed:17407387, ECO:0000269|PubMed:9243109, ECO:0000269|PubMed:9313765}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Type 2 diabetes mellitus (T2D) [MIM:125853]: A multifactorial disorder of glucose homeostasis caused by a lack of sensitivity to 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. {ECO:0000269|PubMed:9449683}. Note=Disease susceptibility may be associated with variants affecting the gene represented in this entry.; DISEASE: Fanconi renotubular syndrome 4 with maturity-onset diabetes of the young (FRTS4) [MIM:616026]: An autosomal dominant 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 generalized aminoaciduria, low molecular weight proteinuria, glycosuria, hyperphosphaturia and hypouricemia. Some FRTS4 patients have nephrocalcinosis, renal impairment, hypercalciuria with relative hypocalcemia, and hypermagnesemia. {ECO:0000269|PubMed:22802087, ECO:0000269|PubMed:24285859}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: 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). {ECO:0000250|UniProtKB:P49698, ECO:0000269|PubMed:30530698, ECO:0000269|PubMed:30597922}.
uniprot
proteins
mass_dalton
52785
uniprot
proteins
mutagenesis
MUTAGEN 313; /note="S->A: Abolishes AMPK-mediated phosphorylation."; /evidence="ECO:0000269|PubMed:12740371"; MUTAGEN 313; /note="S->D: Phosphomimetic mutant that leads to reduced ability to bind DNA."; /evidence="ECO:0000269|PubMed:12740371
uniprot
proteins
post_translational_modification
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. {ECO:0000269|PubMed:12740371, ECO:0000269|PubMed:21708125, ECO:0000269|PubMed:7568236}.; PTM: Acetylation at Lys-458 lowers transcriptional activation by about two-fold. {ECO:0000269|PubMed:21708125}.
uniprot
proteins
protein_family
NR2 subfamily
uniprot
proteins
protein_family
Nuclear hormone receptor family
uniprot
proteins
pubmed
10389854
uniprot
proteins
pubmed
11780052
uniprot
proteins
pubmed
12740371
uniprot
proteins
pubmed
14982928
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
17407387
uniprot
proteins
pubmed
21708125
uniprot
proteins
pubmed
22802087
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
24285859
uniprot
proteins
pubmed
28128295
uniprot
proteins
pubmed
30468856
uniprot
proteins
pubmed
30530698
uniprot
proteins
pubmed
30597922
uniprot
proteins
pubmed
7568236
uniprot
proteins
pubmed
7926813
uniprot
proteins
pubmed
8622695
uniprot
proteins
pubmed
8945471
uniprot
proteins
pubmed
8964514
uniprot
proteins
pubmed
9243109
uniprot
proteins
pubmed
9267996
uniprot
proteins
pubmed
9313765
uniprot
proteins
pubmed
9449683
uniprot
proteins
sequence_length
474
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Nucleus.
uniprot
proteins