HNF1A Antibodies

Structure of HNF1A

The protein encoded by the HNF1A gene has a molecular weight of approximately 67 kDa. There are slight variations among different species due to sequence differences. The specific data are as follows:

This protein is composed of 631 amino acids and contains three main domains: the N-terminal DNA-binding homologous domain, the middle POU domain, and the C-terminal trans-activating domain. Its spatial structure presents a typical transcription factor conformation. The POU domain is responsible for specific recognition of DNA sequences, while the homologous domain stabilizes the protein-DNA interaction. The protein binds to the promoter of the target gene by forming homodimers or heterodimers, regulating the expression of downstream genes. Phosphorylation modification can affect its transcriptional activity, and the nuclear localization signal ensures its entry into the cell nucleus to exert its function.

Fig. 1 The structure of HNF1α protein and the SNPs associated with MODY3 or T2D.¹

Key structural features of the HNF1A gene:

• Encodes a transcription factor with a POU homology domain
• Dimerization domain mediates formation of homodimers or heterodimers
• DNA binding domain specifically recognizes the promoter sequence of target genes
• Transcriptional activation domain regulates the transcriptional activity of downstream genes
• Nuclear localization signal ensures the protein enters the nucleus to exert its function
• Phosphorylation sites participate in post-translational modification regulation

Functions of HNF1A

The core function of the HNF1A gene is to regulate the transcription of target genes in the pancreas, liver, and kidneys. However, it is also involved in various physiological processes, including glucose metabolism, lipid homeostasis, and cell differentiation.

HNF1A forms homodimers or heterodimers by specifically binding to DNA. Its target genes include albumin, insulin, glucose transporters, and various liver enzymes. This regulatory network is crucial for maintaining metabolic homeostasis.

Applications of HNF1A and HNF1A Antibody in Literature

1. Li, Li-Mei, Bei-Ge Jiang, and Liang-Liang Sun. "HNF1A： from monogenic diabetes to type 2 diabetes and gestational diabetes mellitus." Frontiers in Endocrinology 13 (2022): 829565. https://doi.org/10.3389/fendo.2022.829565

The article indicates that mutations in the HNF1A gene can lead to three types of diabetes: MODY3, type 2 diabetes, and gestational diabetes. This gene is highly polymorphic, and the disease phenotypes and treatment methods triggered by different mutation sites vary. Analyzing its function is helpful for achieving precise classification and individualized treatment of diabetes.

2. Miyachi, Yasutaka, Takashi Miyazawa, and Yoshihiro Ogawa. "HNF1A mutations and beta cell dysfunction in diabetes." International journal of molecular sciences 23.6 (2022): 3222. https://doi.org/10.3390/ijms23063222

The article indicates that mutations in the HNF1A gene can cause monogenic diabetes MODY, and its polymorphism is also related to type 2 diabetes. The research, through genetic-modified mice and human stem cell models, revealed that HNF1A mainly causes diabetes by influencing the functions of pancreatic β cells and liver metabolism.

3. Mirshahi, Uyenlinh L., et al. "Reduced penetrance of MODY-associated HNF1A/HNF4A variants but not GCK variants in clinically unselected cohorts." The American Journal of Human Genetics 109.11 (2022): 2018-2028. https://doi.org/10.1016/j.ajhg.2022.09.014

The study found that pathogenic variations in the HNF1A, HNF4A and GCK genes are not uncommon in the population (approximately 1 in 1500). The diabetes penetrance of HNF1A varies depending on the diagnostic setting (32% - 98%), while GCK is nearly fully penetrant in all populations, suggesting that the genetic interpretation of different genes needs to take into account the clinical context.

4. Ng, Natasha Hui Jin, et al. "HNF4A and HNF1A exhibit tissue specific target gene regulation in pancreatic beta cells and hepatocytes." Nature communications 15.1 (2024): 4288. https://doi.org/10.1038/s41467-024-48647-w

This study used ChIP-Seq to map the genome-wide binding profiles of HNF4A and HNF1A in pancreatic and hepatic cells. It revealed the tissue-specific regulation of HNF4A and confirmed that HNF1A can bind and regulate the expression of GPR39 in pancreatic β cells, providing new resources for elucidating the functions of diabetes-related genes.

5. Xekouki, P., et al. "HNF1A gene mutations and premature ovarian failure (POF): evidence from a clinical paradigm combining MODY 3 and POF." Hormones 23.2 (2024): 345-350. https://doi.org/10.1007/s42000-024-00529-y

The research found that the HNF1A gene mutation not only causes MODY but also that its protein is expressed in both human fetal and adult ovaries. Based on this, the researchers hypothesized that HNF1A might be involved in ovarian development, and its mutation might be related to the onset of premature ovarian insufficiency (POF).

Creative Biolabs: HNF1A Antibodies for Research

Creative Biolabs specializes in the production of high-quality HNF1A antibodies for research and industrial applications. Our portfolio includes monoclonal and polyclonal antibodies tailored for ELISA, Flow Cytometry, Western blot, immunohistochemistry, and other diagnostic methodologies.

• Custom HNF1A Antibody Development: Tailor-made solutions to meet specific research requirements.
• Bulk Production: Large-scale antibody manufacturing for industry partners.
• Technical Support: Expert consultation for protocol optimization and troubleshooting.
• Aliquoting Services: Conveniently sized aliquots for long-term storage and consistent experimental outcomes.

For more details on our HNF1A antibodies, custom preparations, or technical support, contact us at email.