Hepatocyte Nuclear Factor 1 Alpha (HNF1a)

TCF1; HNF1; LFB1; LF-B1; MODY3; Transcription Factor 1,Hepatic; Hepatic Nuclear Factor; Albumin Proximal Factor; Liver-specific transcription factor LF-B1

SPN	P974
HGNC	11621
MGI	98504
PubMed	23674172
RGD	3828
UniProt	P20823
Wiki	HNF1A

HNF1a interacts with sequences required for optimal promoter function of the genes mentioned. The promoter or enhancer regions for several viral and cellular genes not expressed in the liver did not compete for binding to these sequences. HNF1 is predominantly expressed in liver and kidney.

HNF1 binds to the promoters of a variety of genes that are expressed exclusively in the liver, e.g., fibrinogen-alpha and -beta, albumin, alpha-fetoprotein, alpha-1-antitrypsin, liver-type pyruvate kinase, transthyretin, aldolase B, and hepatitis B virus large surface protein.HNF1-alpha, which displayed a restricted tissue distribution and did not bind to DNA but, rather, selectively stabilized HNF1-alpha dimers.

Reference

"Cloning of human hepatic nuclear factor 1 (HNF1) and chromosomal localization of its gene in man and mouse."
Genomics 8:155-164(1990) [PubMed] [Europe PMC] [Abstract]

"More potent transcriptional activators or a transdominant inhibitor of the HNF1 homeoprotein family are generated by alternative RNA processing."
EMBO J. 12:4229-4242(1993) [PubMed] [Europe PMC] [Abstract]

"Mutations in the hepatocyte nuclear factor-1alpha gene in maturity-onset diabetes of the young (MODY3)."
Nature 384:455-458(1996) [PubMed] [Europe PMC] [Abstract]

"The finished DNA sequence of human chromosome 12."
Nature 440:346-351(2006) [PubMed] [Europe PMC] [Abstract]

"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]

"An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome."
J. Proteomics 96:253-262(2014) [PubMed] [Europe PMC] [Abstract]

"Diabetes mutations delineate an atypical POU domain in HNF-1alpha."
Mol. Cell 10:1129-1137(2002) [PubMed] [Europe PMC] [Abstract]

"Diabetes mellitus due to misfolding of a beta-cell transcription factor: stereospecific frustration of a Schellman motif in HNF-1alpha."
J. Mol. Biol. 362:414-429(2006) [PubMed] [Europe PMC] [Abstract]

"Novel mutations and a mutational hotspot in the MODY3 gene."
Diabetes 46:1081-1086(1997) [PubMed] [Europe PMC] [Abstract]

"Mutations in the hepatocyte nuclear factor-1alpha/MODY3 gene in Japanese subjects with early- and late-onset NIDDM."
Diabetes 46:1504-1508(1997) [PubMed] [Europe PMC] [Abstract]

"Mutations in the hepatocyte nuclear factor-1alpha gene (MODY3) are not a major cause of late-onset NIDDM in Japanese subjects."
Diabetes 46:1512-1513(1997) [PubMed] [Europe PMC] [Abstract]

"Identification of mutations in the hepatocyte nuclear factor (HNF)-1-alpha gene in Japanese subjects with IDDM."
Diabetes 46:1643-1647(1997) [PubMed] [Europe PMC] [Abstract]

"An automated fluorescent single-strand conformation polymorphism technique for screening mutations in the hepatocyte nuclear factor-1alpha gene (maturity-onset diabetes of the young)."
Diabetes 46:2108-2109(1997) [PubMed] [Europe PMC] [Abstract]

"Mutations in the hepatocyte nuclear factor-1alpha gene in MODY and early-onset NIDDM: evidence for a mutational hotspot in exon 4."
Diabetes 46:528-535(1997) [PubMed] [Europe PMC] [Abstract]

"Mutations in the hepatocyte nuclear factor-1alpha gene are a common cause of maturity-onset diabetes of the young in the U.K."
Diabetes 46:720-725(1997) [PubMed] [Europe PMC] [Abstract]

"Novel MODY3 mutations in the hepatocyte nuclear factor-1alpha gene: evidence for a hyperexcitability of pancreatic beta-cells to intravenous secretagogues in a glucose-tolerant carrier of a P447L mutation."
Diabetes 46:726-730(1997) [PubMed] [Europe PMC] [Abstract]

"A prevalent amino acid polymorphism at codon 98 in the hepatocyte nuclear factor-1alpha gene is associated with reduced serum C-peptide and insulin responses to an oral glucose challenge."
Diabetes 46:912-916(1997) [PubMed] [Europe PMC] [Abstract]

"Genetic variation in the hepatocyte nuclear factor-1 alpha gene in Danish Caucasians with late-onset NIDDM."
Diabetologia 40:473-475(1997) [PubMed] [Europe PMC] [Abstract]

"Identification of nine novel mutations in the hepatocyte nuclear factor 1 alpha gene associated with maturity-onset diabetes of the young (MODY3)."
Hum. Mol. Genet. 6:583-586(1997) [PubMed] [Europe PMC] [Abstract]

"Hepatocyte nuclear factor 1alpha coding mutations are an uncommon contributor to early-onset type 2 diabetes in Ashkenazi Jews."
Diabetes 47:967-969(1998) [PubMed] [Europe PMC] [Abstract]

"Mutation screening in 18 Caucasian families suggest the existence of other MODY genes."
Diabetologia 41:1017-1023(1998) [PubMed] [Europe PMC] [Abstract]

"Mutations in the hepatocyte nuclear factor-1alpha gene in Caucasian families originally classified as having type I diabetes."
Diabetologia 41:1528-1531(1998) [PubMed] [Europe PMC] [Abstract]

"Linkage and molecular scanning analyses of MODY3/hepatocyte nuclear factor-1 alpha gene in typical familial type 2 diabetes: evidence for novel mutations in exons 8 and 10."
J. Clin. Endocrinol. Metab. 83:2059-2065(1998) [PubMed] [Europe PMC] [Abstract]

"Mutations in the hepatocyte nuclear factor-1 alpha gene 'MODY3' are not a major cause of early-onset non-insulin-dependent 'type 2' diabetes mellitus in Japanese."
J. Hum. Genet. 43:107-110(1998) [PubMed] [Europe PMC] [Abstract]

"Identification of mutations in the hepatocyte nuclear factor-1alpha gene in Japanese subjects with early-onset NIDDM and functional analysis of the mutant proteins."
Diabetes 48:645-648(1999) [PubMed] [Europe PMC] [Abstract]

"Allelic drop-out in exon 2 of the hepatocyte nuclear factor-1alpha gene hinders the identification of mutations in three families with maturity-onset diabetes of the young."
Diabetes 48:921-923(1999) [PubMed] [Europe PMC] [Abstract]

"Three new mutations in the hepatocyte nuclear factor-1alpha gene in Japanese subjects with diabetes mellitus: clinical features and functional characterization."
Diabetologia 42:621-626(1999) [PubMed] [Europe PMC] [Abstract]

"Molecular genetics of diabetes mellitus in Chinese subjects: identification of mutations in glucokinase and hepatocyte nuclear factor-1alpha genes in patients with early-onset type 2 diabetes mellitus/MODY."
Diabet. Med. 16:956-963(1999) [PubMed] [Europe PMC] [Abstract]

"Non-penetrance in a MODY 3 family with a mutation in the hepatic nuclear factor 1alpha gene: implications for predictive testing."
Eur. J. Hum. Genet. 7:729-732(1999) [PubMed] [Europe PMC] [Abstract]

"The hepatic nuclear factor-1alpha G319S variant is associated with early-onset type 2 diabetes in Canadian Oji-Cree."
J. Clin. Endocrinol. Metab. 84:1077-1082(1999) [PubMed] [Europe PMC] [Abstract]

"Structural basis of dimerization, coactivator recognition and MODY3 mutations in HNF-1alpha."
Nat. Struct. Biol. 7:744-748(2000) [PubMed] [Europe PMC] [Abstract]

"Bi-allelic inactivation of TCF1 in hepatic adenomas."
Nat. Genet. 32:312-315(2002) [PubMed] [Europe PMC] [Abstract]

"The consensus coding sequences of human breast and colorectal cancers."
Science 314:268-274(2006) [PubMed] [Europe PMC] [Abstract]