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Validated All-in-One™ qPCR Primer for HNF1A(NM_000545.6) Search again
Product ID:
HQP017954
(click here to view gene annotation page)
Powered by BiozSpecies:
Human
Symbol:
Alias:
HNF-1-alpha, HNF-1A, HNF1, HNF1alpha, HNF4A, IDDM20, LFB1, MODY3, TCF-1, TCF1
Gene Description:
HNF1 homeobox A
Target Gene Accession:
NM_000545.6(click here to view gene page)
Estimated Delivery:
Approximately 1-3 weeks, but may vary. Please email sales@genecopoeia.com or call 301-762-0888 to confirm ETA.
Important Note:
By default, qPCR primer pairs are designed to measure the expression level of the splice variant (accession number) you selected for this gene WITHOUT consideration of other possible variants of this gene. If this gene has multiple variants, and you would like to measure the expression levels of one particular variant, multiple variants, or all variants, please contact us for a custom service project at inquiry@genecopoeia.com.
Validated result:
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| A | B |
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Each All-in-One™ qPCR Primer is experimentally validated to yield a single dissociation curve peak and to generate a single amplification of the correct size for the targeted gene. A cDNA Pool, containing reverse transcript products of 8 different human tissue total RNA(Liver, Testis,Muscle,Thyroid,Brain,Spleen,Stomach,Small Intestine)),was used as the qPCR validation template. qPCR was performed using 0.2 µM primer with 2XAll-in-One™ qPCR Mix (Catalog#: QP001,QP002,QP004,QP005). Reactions were incubated for 10min. at 95°C, followed by 40 cycles of 95°C for 10 sec.; 60°C, 20 sec. and 72°C, 15sec. using Bio-Rad iQ5™ Instrument. At the end of the last cycle, temperature was increased from 72 to 95°C to produce a melting curve. Panel A: Validated Result for Amplification Curve; Panel B: Validated Result for Melting Curve. |
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Summary
The protein encoded by this gene is a transcription factor required for the expression of several liver-specific genes. The encoded protein functions as a homodimer and binds to the inverted palindrome 5'-GTTAATNATTAAC-3'. Defects in this gene are a cause of maturity onset diabetes of the young type 3 (MODY3) and also can result in the appearance of hepatic adenomas. [provided by RefSeq].
Gene References into function
- analysis of a non-functional mutation in Japanese subjects with familial type 1 diabetes
- Mutation in hepatocyte nuclear factor-1alpha is not a common cause of MODY and early-onset type 2 diabetes in Korea.
- Prevalence of the missense mutation Gly574Ser in the hepatocyte nuclear factor-1alpha in Africans with diabetes
- Physical interaction with GATA-5 results in synergistic activation of the human lactase-phlorizin hydrolase promoter.
- mutations in maturity-onset diabetes of the young (MODY) candidate genes in 22 Spanish families.
- Mutations in the HNF-1 alpha gene seem to be an important cause of MODY in southern Chinese. The mutations could affect normal islet function by altering the expression of target genes.
- These findings provide genetic evidence that HNF-1alpha serves as an upstream regulator of HNF-4alpha and interacts directly with the P2 promoter in human pancreatic cells.
- results indicate that inactivation of TCF1, whether sporadic or associated with MODY3, is an important genetic event in the occurrence of human liver adenoma, and may be an early step in the development of some HCCs
- Abnormal splicing is demonstrated in this gene in maturity-onset diabetes of the young.
- Three HNF1A mutations, of which two were novel, namely 1051delCA and Q250X, were identified in Canadian MODY patients.
- x-ray crystallography reveals a stable interface that further distinguishes HNF-1alpha from other flexible POU-homeodomain proteins
- A missense mutation is prevalent in Canadian aboriginal youth with type 2 diabetes.
- maternal hyperglycemia during pregnancy probably increases the penetrance of HNF-1alpha mutations
- Mutations in HNF-1alpha accounts for diabetes in a small proportion of families with a dominant pattern of inheritance; age at onset of diabetes in MODY3 families varied widely and is influenced by familial factors
- The L107I/HNF1alpha protein showed normal nuclear targeting but impaired binding to an HNF1 alpha consensus sequence. L107I substitution represents a MODY3 mutation which impairs beta-cell function by a loss-of-function mechanism.
- Non-obese Japanese patients with non-Type 1 diabetes of youth have HNF-1alpha-deficient diabetes. Lack of obesity could well be a characteristic feature of this form of diabetes.
- The L518P519fsTCC --> A was identified for the first time and this mutation might be a common cause of Japanese MODY3 in Okinawa area. In addition, both the T521I and V617I mutations were present in two patients in the same family.
- haploinsufficiency of HNF1alpha is responsible for the pathogenesis of MODY3
- results suggest that the expression level of dihydrodiol dehydrogenase 4 mRNA is cooperatively regulated by the amounts of HNF-1 alpha, HNF-4 alpha and HNF-4 gamma
- prevalence of HNF-1alpha mutations in families with three generations of diabetes, representing a subpopulation in which misclassification was likely
- Data reveal DCoH/HNF-1 alpha expression and transcriptional activity in human epidermal melanocytes in vitro and in situ and identified tyrosinase, the key enzyme for pigmentation, as a new transcriptional target.
- that beta-cell dysfunction in MODY3 is caused by loss-of-function mechanisms like reduced DNA binding, impaired transcriptional activation, and defects in subcellular localization.
- 20 different mutations in the HNF-4alpha, GCK and HNF-1alpha in 29 families. Three of 3, 10 of 11 and 1 of 6 of the mutations identified in HNF-4alpha, GCK and HNF-1alpha respectively, were new.
- loss of expression of this transcription factor in a subset of peripheral t-cell lymphomas
- Mutation of HNF-1alpha at codon 263 from arginine to leucine leads to the development of MODY3.
- role for HNF1 in microsatellite instability status in colorectal carcinogenesis
- Single nucleotide polymorphism is not associated with ketosis-prone atypical diabetes.
- Gene expression data from transgenic mice lacking HNF1alpha can be used to identify DNA binding sites for that factor.
- role of the I27L polymorphism in the pathogenesis of type 2 diabetes
- HNF-1 alpha gene locus is associated with serum HDL-c level, and Ile27 allele is a risk marker for atherosclerosis.
- A newly characterized binding site for HNF-1 upstream of the STAT6 site in intron 1 of the human polymeric Ig receptor gene shows that HNF-1 is required for complete function of the IL-4-responsive enhancer in HT-29 epithelial cells.
- HNF1 functionally replaces both vHNF1 isoforms, suggesting that the different developmental functions of these transcription factors are mainly due to the acquisition of novel expression patterns
- findings suggest that HNF1 may have a major role in upregulating alternative transcription of the AE2 gene in the liver, and therefore it may contribute to the biliary secretion of bicarbonate in response to certain stimuli
- HNF1 and hB1F are involved together in the viral gene expression regulation of the Hepatitis B virus.
- study provides the first evidence that HNF-1alpha PTC mutations may be subject to nonsense-mediated decay
- identifed systematically the genes occupied by the transcriptional regulators HNF1alpha, HNF4alpha, and HNF6, together with RNA polymerase II in human liver and pancreatic islets
- diabetes phenotype due to HNF-1beta mutations is similar to that in HNF-1alpha
- HNF1 did not affect the Hepatitis B virus WT core promoter, but suppressed the precore RNA expression of the double mutant in Huh7 hepatoma cells
- Cdx-2 is a permissive factor that influences basal CaBP expression in enterocytes and that HNF-1alpha modulates CaBP gene expression during cellular differentiation.
- Polymorphism contributes to glucose intolerance in a South Indian population
- HNF-1 alpha gene is not a major cause of early-onset or multiplex diabetes pedigrees in this Chinese population in Shanghai.
- a mutation of the HNF1A gene was found in families and patients with maturity-onset diabetes of the young
- HNF1alpha may contribute to endometrial carcinogenesis through complete HNF1alpha inactivation like in liver cell adenoma or by haploinsufficiency like in MSI-H colorectal cancer
- A comparision of gene expression patterns induced by hepatic nuclear factors, HNF6, HNF4alpha and HNF1beta, in a pancreatic beta-cell line.
- These results suggest that sucrase-isomaltase transcription might be unchanged or lower in maturity-onset diabetes of the young (MODY) type 3, but greater in MODY5.
- TCF-SRF-regulated gene activity has a role in regulating proliferation and in protecting cells from apoptotic cell death
- Albumin colocalized together with its transcription factor PCD/DCoH/HNF-1alpha in suprabasal keratinocytes in human full-thickness skin sections and in keratinocytes cultured in serum-free medium.
- 3 novel mutations within the TCF1 gene, associated with Maturity-onset diabetes of the young, are discussed.
- cyclooxygenase-2/PGE2 may exert pro-oncogenic actions through stimulating the beta-catenin/T cell factor-mediated transcription, which plays critical roles in colorectal carcinogenesis
- relative prevalence of 3% of MODY1 (two different mutations in two families), 10% of MODY2 (seven in eight), and 36% of MODY3 (21 in 28) among Danish kindred clinically diagnosed as MODY
- transcription factors hepatic nuclear factor 1 (HNF1)alpha and beta play an important part in the regulation of the ACAT2 promoter
- Beta-cell deficiency, increased insulin sensitivity, and a low renal threshold are present in young nondiabetic HNF-1alpha mutation carriers.
- Among Asian Indians, the Ala98Val polymorphism of HNF1alpha gene is associated with MODY and with earlier age at onset of type 2 diabetes.
- HNF-1alpha-HNF-4alpha functional interactions are accomplished by regulating factor promoter occupancy and defective factor-factor interactions may contribute to the maturity onset diabetes of the young phenotype.
- Renal malformations may be linked to mutations in the MODY3 gene.
- Core promoter upstream regulatory sequence/basic core promoter was replaced with a part of the S1 promoter covering the hepatocyte nuclear factor 1 (HNF1) binding site, followed by a tandem repeat of the HNF1 site.
- we identified that the related transcription factor HNF1alpha (TCF1) affects only nine genes in HEK293 cells and thus is a less efficient factor in these kidney cells
- Expressed Bcr is able to bind the transcription factor Tcf1 to disrupt the Tcf1/beta-catenin complex. Phosphorylation of Bcr by the tyrosine kinase pp60(src) can lead to dissociation of the transcriptionally inactive Bcr/Tcf1 complex
- Subjects with HNF-1beta mutations have reduced insulin sensitivity of endogenous glucose production but normal peripheral insulin sensitivity in contrast to patients with HNF-1alpha mutations and normal controls.
- In HNF-1alpha, previously reported mutations (R271W and R272C) and one novel sequence variant (at nucleotide -129/-130 insTTGGGG of the promoter region) were identified in three different Japanese patients with juvenile-onset non-obese diabetes mellitus.
- HNF1 binding, at approximately 51 kb upstream, plays a master role in controlling human class I alcohol dehydrogenase gene expression.
- STMN2 is required for maintaining the anchorage-independent growth state of beta-catenin/TCF-activated hepatoma cells
- NARF functions as a novel ubiquitin-ligase to regulate ubiquitylation and degradation of T cell factor/lymphoid enhancer factor
- The -30G-->A polymorphism of the beta-cell-specific promoter of GCK and the I27L polymorphism of HNF1A seem to increase the risk of GDM in Scandinavian women.
- examined whether the isomers affected by the mutation altered the diabetes phenotype in 564 subjects with 123 mutations in HNF1A
- both wild HNF-1alpha and wild HNF-1beta have a stimulatory effect on dipeptidylpeptidase IV gene expression, but that mutant HNF-1alpha and mutant HNF-1beta attenuate the stimulatory effect
- Cdx2 was shown to cooperatively activate the UGT2B7 promoter in conjunction with hepatocyte nuclear factor 1alpha (HNF1alpha), a mechanism previously observed to regulate other intestine-specific genes.
- These results indicate that the tissue-specific expression of hOAT3 might be regulated by the concerted effect of genetic (HNF1alpha and HNF1beta) and epigenetic (DNA methylation) factors.
- HNF4alpha, CREM, HNF1alpha, and C/EBPalpha have roles in transcriptional regulation of the glucose-6-phosphatase gene by cAMP/vasoactive intestinal peptide in the intestine
- substitutions G20R and G20A lead to dimeric molten globules of low stability, suggesting that the impaired function of the diabetes-associated transcription factor is due to a main-chain perturbation rather than to specific features of the Arg side-chain
- The prevalence of mutations in the HNF1A gene was studied in Polish women with gestational diabetes.
- IL-1beta caused concentration-related up-regulation of vHNF-1C mRNA levels and increased binding of HNF-1C protein to the HRE, whereas HNF-1alpha-response element complex formation was reduced.
- IL-1beta represses GSTA1 transcription via a mechanism involving overexpression of variant HNF-1C.
- HNF1alpha regulates endogenous MUC4 expression by binding to two cognate cis-elements respectively located at -3332/-3327 and -3040/-3028 in the distal promoter.
- In steatotic adenoma, we identified an inactivating biallelic mutation of HNF1alpha.
- G574S affects the transactivation potential of HNF-1alpha on the insulin promoter in pancreatic beta-cells
- glucose regulation of sucrase-isomaltase gene expression was attenuated in HNF-1alphaT539fsdelC cells, but was well maintained in empty vector & HNF-1betaR177X cells.Results suggest that HNF-1alpha participates in glucose regulation of SI gene expression
- two hepatocyte nuclear factor 1-binding elements are involved for the UDP-glucuronosyltransferase 1A9 promoter response to hepatocyte nuclear factor 4alpha
- A study evaluating the extent to which common variation in the six known maturity-onset diabetes of the young (MODY) genes, which cause a monogenic form of type 2 diabetes, is associated with type 2 diabetes is presented.
- HNF-1A gene is not a common cause of early-onset and/or multiplex diabetes among Chinese patients.
- despite a significant proportion of young Indians with type 2 diabetes a having normal weight, HNF1alpha gene mutations were infrequent
- Provide evidence for HNF1alpha as a determinant of UGT1A1, UGT1A9 and UGT2B7 mRNA expression, but suggest a role for multiple transcription factors.
- Transcription factors glucocorticoid receptor, STAT-3, and HNF-1alpha bind to the angiotensinogen gene promoter mediating IL-6 induced promoter activity of this gene.
- hepatocellular adenomas can be divided into 4 subgroups: one is defined by presence of mutations in TCF1 gene inactivating HNFalpha; 2nd by presence of beta-catenin activating mutations; category without mutations divided based on presence of inflammatio
- Almost 90% of the MODY cases in the group studied are explained by mutations in the major genes GCK (MODY2) and HNF-1alpha(MODY3), although differences in the relative prevalence of each form could be partly due to patient referral bias.
- Fascin is a novel target of beta-catenin-TCF signaling and is expressed at the invasive front of human colon cancer
- Deletions are detected in exons are investigated in maturity-onset diabetes of the young.
- HNF1alpha is an essential regulator of OATP1B1 mRNA expression and thus the level of HNF1alpha expression is one of the major determinants of interindividual variability in OATP1B1 mRNA expression.
- An 11 bp deletion, including the splice site at the end of exon 2 was found; however the location of the mutation in the DNA-binding domain does not affect the function of TCF1.
- HNF1alpha and HNF4alpha are the factors involved in the interindividual variability of liver UGT1A6 and UGT1A9 mRNA expression.
- Part of the variability of the clinical expression in MODY3 patients may be explained by the type and the location of HNF1A mutations.
- HNF4alpha plays a crucial role in the expression and regulation of human NPC1L1 gene
- HNF1alpha bound to the proximal promoter motif enhances basal reporter activity of UGT1A1, including distal (-3570/-3180) and proximal (-165/-1) regions, and influences transcriptional regulation of UGT1A1 by CAR, PXR, GR, and AhR
- Coexistence of type 1 diabetes autoimmunity and a mutation in the gene for MODY3 in this overweight patient may explain the early onset of progressive insulinopenia compared with the later age of diabetes onset.
- Data show that a concerted action of HNF4alpha and HNF1alpha, which also determines morphological and functional differentiation of hepatocytes, links HBV replication to hepatocyte differentiation.
- In order to elucidate the molecular basis of HNF4 function and the monogenic causes of diabetes, HNF4 DNA-binding domain is prepared and crystallized in complex with a high-affinity HNF1 promoter element containing the HNF4 recognition sequence.
- HNF-1alpha mRNA was expressed in four of the six anaplastic papillary thyroid cancer cell lines.
- Beta-catenin and HNF1alpha could regulate miR-375 and miR-107 expression levels, respectively, in hepatocellular tumors.
- Identification of a new mutation of the HNF-1alpha sequence in a child with a diabetic mother.
- There are several SNPs within a 5 kb region of HNF1A intron 1 with the strongest evidence of association with CRP phenotype.
- our data suggest a major role of HNF-1alpha in control of FABP2 expression in intestine via a functional HNF-1alpha recognition element within FABP2 promoter region -185 to -165.
- A combination of abnormal splicing and reduced activity of the HNF1A protein may explain the diabetes susceptibility in a Canadian Ofi-Cree population.
- HNF1A mutation carriers have reduced pancreatic volume but less reduced than in patients with type 1 diabetes.
- results suggested that mutations in MODY2 and MODY3 genes do not explain the majority of maturity-onset diabetes of the young (MODY) cases in Brazilian population
- Present 2 cases of hepatocyte nuclear factor 1alpha (HNF1alpha)-mutated adenomatosis.
- Significant associations between the heterozygote A98V genotype and clinical parameters of insulin metabolism were reported but no relationship with type 2 diabetes was obtained.
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