HNF1A
entrez
6927
canonical
uniprot
P20823
canonical
ensembl
ENSG00000135100
resolver
ensp
ENSP00000257555
resolver
ensp
ENSP00000438804
resolver
ensp
ENSP00000443112
resolver
enst
ENST00000541395
resolver
enst
ENST00000544413
resolver
genesymbol
HNF1A
resolver
genesymbol_syn
TCF1
resolver
hgnc
HGNC:11621
resolver
uniprot
A0A0A0MQU7
resolver
uniprot
A0A0A0MTK8
resolver
uniprot
A5Z2R8
resolver
uniprot
E0YMI7
resolver
uniprot
E0YMJ5
resolver
uniprot
E0YMK0
resolver
uniprot
E0YMK1
resolver
uniprot
E2I9R4
resolver
uniprot
E2I9R5
resolver
uniprot
F5H0K0
resolver
uniprot
F5H5U3
resolver
uniprot
Q2M3H2
resolver
uniprot
Q99861
resolver
uniprot_entry
A0A0A0MTK8_HUMAN
resolver
uniprot_entry
E0YMI7_HUMAN
resolver
uniprot_entry
F5H0K0_HUMAN
resolver
uniprot_entry
HNF1A_HUMAN
resolver
uniprot_sec
A0A0A0MQU7
resolver
uniprot_sec
A5Z2R8
resolver
uniprot_sec
E0YMJ5
resolver
uniprot_sec
E0YMK0
resolver
uniprot_sec
E0YMK1
resolver
uniprot_sec
E2I9R4
resolver
uniprot_sec
E2I9R5
resolver
uniprot_sec
F5H5U3
resolver
uniprot_sec
Q2M3H2
resolver
uniprot_sec
Q99861
resolver
amino_acid_sequence
MVSKLSQLQTELLAALLESGLSKEALIQALGEPGPYLLAGEGPLDKGESCGGGRGELAELPNGLGETRGSEDETDDDGEDFTPPILKELENLSPEEAAHQKAVVETLLQEDPWRVAKMVKSYLQQHNIPQREVVDTTGLNQSHLSQHLNKGTPMKTQKRAALYTWYVRKQREVAQQFTHAGQGGLIEEPTGDELPTKKGRRNRFKWGPASQQILFQAYERQKNPSKEERETLVEECNRAECIQRGVSPSQAQGLGSNLVTEVRVYNWFANRRKEEAFRHKLAMDTYSGPPPGPGPGPALPAHSSPGLPPPALSPSKVHGVRYGQPATSETAEVPSSSGGPLVTVSTPLHQVSPTGLEPSHSLLSTEAKLVSAAGGPLPPVSTLTALHSLEQTSPGLNQQPQNLIMASLPGVMTIGPGEPASLGPTFTNTGASTLVIGLASTQAQSVPVINSMGSSLTTLQPVQFSQPLHPSYQQPLMPPVQSHVTQSPFMATMAQLQSPHALYSHKPEVAQYTHTGLLPQTMLITDTTNLSALASLTPTKQVFTSDTEASSESGLHTPASQATTLHVPSQDPASIQHLQPAHRLSASPTVSSSSLVLYQSSDSSNGQSHLLPSNHSVIETFISTQMASSSQ
uniprot
proteins
disease_involvement
DISEASE: Hepatic adenomas familial (HEPAF) [MIM:142330]: Rare benign liver tumors of presumable epithelial origin that develop in an otherwise normal liver. Hepatic adenomas may be single or multiple. They consist of sheets of well-differentiated hepatocytes that contain fat and glycogen and can produce bile. Bile ducts or portal areas are absent. Kupffer cells, if present, are reduced in number and are non-functional. Conditions associated with adenomas are insulin-dependent diabetes mellitus and glycogen storage diseases (types 1 and 3). Note=The disease is caused by variants affecting the gene represented in this entry. Bi-allelic inactivation of HNF1A, whether sporadic or associated with MODY3, may be an early step in the development of some hepatocellular carcinomas.; DISEASE: Maturity-onset diabetes of the young 3 (MODY3) [MIM:600496]: 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:10078571, ECO:0000269|PubMed:10102714, ECO:0000269|PubMed:10482964, ECO:0000269|PubMed:10588527, ECO:0000269|PubMed:10966642, ECO:0000269|PubMed:12453420, ECO:0000269|PubMed:17573900, ECO:0000269|PubMed:8945470, ECO:0000269|PubMed:9032114, ECO:0000269|PubMed:9075818, ECO:0000269|PubMed:9075819, ECO:0000269|PubMed:9097962, ECO:0000269|PubMed:9166684, ECO:0000269|PubMed:9287053, ECO:0000269|PubMed:9392505, ECO:0000269|PubMed:9626139, ECO:0000269|PubMed:9754819}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Type 1 diabetes mellitus 20 (T1D20) [MIM:612520]: A multifactorial disorder of glucose homeostasis that is characterized by susceptibility to ketoacidosis in the absence of insulin therapy. Clinical features are polydipsia, polyphagia and polyuria which result from hyperglycemia-induced osmotic diuresis and secondary thirst. These derangements result in long-term complications that affect the eyes, kidneys, nerves, and blood vessels. {ECO:0000269|PubMed:10333057, ECO:0000269|PubMed:9313763, ECO:0000269|PubMed:9867222}. Note=Disease susceptibility is associated with variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Transcriptional activator that regulates the tissue specific expression of multiple genes, especially in pancreatic islet cells and in liver (By similarity). Binds to the inverted palindrome 5'-GTTAATNATTAAC-3' (PubMed:10966642, PubMed:12453420). Activates the transcription of CYP1A2, CYP2E1 and CYP3A11 (By similarity). {ECO:0000250|UniProtKB:P22361, ECO:0000269|PubMed:10966642, ECO:0000269|PubMed:12453420}.; FUNCTION: (Microbial infection) Plays a crucial role for hepatitis B virus gene transcription and DNA replication. Mechanistically, synergistically cooperates with NR5A2 to up-regulate the activity of one of the critical cis-elements in the hepatitis B virus genome enhancer II (ENII). {ECO:0000269|PubMed:14728801, ECO:0000269|PubMed:38018242}.
uniprot
proteins
mass_dalton
67386
uniprot
proteins
mutagenesis
MUTAGEN 117; /note="K->R: Strong loss of SPOP-mediated ubiquitination."; /evidence="ECO:0000269|PubMed:38018242"; MUTAGEN 127; /note="N->W: Abolishes transcription activation."; /evidence="ECO:0000269|PubMed:12453420"; MUTAGEN 132; /note="E->K: Abolishes transcription activation."; /evidence="ECO:0000269|PubMed:12453420"; MUTAGEN 177; /note="F->S: No significant effect on transcription activation."; /evidence="ECO:0000269|PubMed:12453420"; MUTAGEN 186; /note="I->Q: No effect on transcription activation."; /evidence="ECO:0000269|PubMed:12453420"; MUTAGEN 190; /note="T->Q: No effect on transcription activation."; /evidence="ECO:0000269|PubMed:12453420"; MUTAGEN 202; /note="N->D: Reduces transcription activation by 70%."; /evidence="ECO:0000269|PubMed:12453420"; MUTAGEN 246; /note="V->D: Reduces transcription activation by 75%."; /evidence="ECO:0000269|PubMed:12453420"; MUTAGEN 257; /note="N->W: Reduces transcription activation by 70%."; /evidence="ECO:0000269|PubMed:12453420
uniprot
proteins
post_translational_modification
PTM: Ubiquitinated in s SPOP-dependent manner; leading to prteasomal degradation. {ECO:0000269|PubMed:38018242}.
uniprot
proteins
protein_family
HNF1 homeobox family
uniprot
proteins
pubmed
10078571
uniprot
proteins
pubmed
10084598
uniprot
proteins
pubmed
10102714
uniprot
proteins
pubmed
10333057
uniprot
proteins
pubmed
10482964
uniprot
proteins
pubmed
10588527
uniprot
proteins
pubmed
10966642
uniprot
proteins
pubmed
12355088
uniprot
proteins
pubmed
12453420
uniprot
proteins
pubmed
14728801
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16541075
uniprot
proteins
pubmed
16930618
uniprot
proteins
pubmed
16959974
uniprot
proteins
pubmed
1707031
uniprot
proteins
pubmed
17573900
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
38018242
uniprot
proteins
pubmed
7900999
uniprot
proteins
pubmed
8945470
uniprot
proteins
pubmed
9032114
uniprot
proteins
pubmed
9075818
uniprot
proteins
pubmed
9075819
uniprot
proteins
pubmed
9097962
uniprot
proteins
pubmed
9112026
uniprot
proteins
pubmed
9133564
uniprot
proteins
pubmed
9166684
uniprot
proteins
pubmed
9287053
uniprot
proteins
pubmed
9287055
uniprot
proteins
pubmed
9313763
uniprot
proteins
pubmed
9392505
uniprot
proteins
pubmed
9604876
uniprot
proteins
pubmed
9621514
uniprot
proteins
pubmed
9626139
uniprot
proteins
pubmed
9754819
uniprot
proteins
pubmed
9867222
uniprot
proteins
sequence_length
631
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Nucleus {ECO:0000255|PROSITE-ProRule:PRU00108, ECO:0000269|PubMed:10966642, ECO:0000269|PubMed:38018242}.
uniprot
proteins