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Rabbit Anti-HNF1A Recombinant Antibody (D7Z2Q) (CBMAB-CP1044-LY)


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Summary

Host Animal
Rabbit
Specificity
Human, Mouse, Rat
Clone
D7Z2Q
Antibody Isotype
IgG
Application
WB, IP, IF (ICC)

Basic Information

Immunogen
Monoclonal antibody is produced by immunizing animals with a synthetic peptide corresponding to residues near the amino terminus of human HNF1α protein.
Specificity
Human, Mouse, Rat
Antibody Isotype
IgG
Clonality
Monoclonal
Application Notes
The COA includes recommended starting dilutions, optimal dilutions should be determined by the end user.

Formulations & Storage [For reference only, actual COA shall prevail!]

Format
Liquid
Buffer
100 µg/ml BSA, 50% glycerol
Preservative
0.02% sodium azide
Purity
> 95% Purity determined by SDS-PAGE.
Storage
Store at +4°C short term (1-2 weeks). Aliquot and store at -20°C long term. Avoid repeated freezethaw cycles.

Target

Full Name
HNF1 Homeobox A
Introduction
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. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Apr 2015]
Entrez Gene ID
Human6927
Mouse21405
Rat24817
UniProt ID
HumanP20823
MouseP22361
RatP15257
Alternative Names
HNF1 Homeobox A; Liver-Specific Transcription Factor LF-B1; HNF-1-Alpha; HNF-1A; TCF-1; TCF1; LFB1; Transcription Factor 1; Hepatic; LF-B1; Hepatic Nuclear Factor (HNF1); Albumin Proximal Factor; Interferon Production Regulator Factor;
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:12453420, PubMed:10966642).

Activates the transcription of CYP1A2, CYP2E1 and CYP3A11 (By similarity).
Biological Process
Glucose homeostasis Source: UniProtKB
Glucose import Source: UniProtKB
Insulin secretion Source: UniProtKB
Liver development Source: InterPro
Pancreas development Source: InterPro
Positive regulation of transcription, DNA-templated Source: UniProtKB
Positive regulation of transcription by RNA polymerase II Source: BHF-UCL
Positive regulation of transcription initiation from RNA polymerase II promoter Source: UniProtKB
Regulation of transcription by RNA polymerase II Source: BHF-UCL
Renal glucose absorption Source: UniProtKB
Cellular Location
Nucleus
Involvement in disease
Hepatic adenomas familial (HEPAF):
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).
Maturity-onset diabetes of the young 3 (MODY3):
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.
Diabetes mellitus, insulin-dependent, 20 (IDDM20):
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.
More Infomation

Miyachi, Y., Miyazawa, T., & Ogawa, Y. (2022). HNF1A mutations and beta cell dysfunction in diabetes. International journal of molecular sciences, 23(6), 3222.

Li, L. M., Jiang, B. G., & Sun, L. L. (2022). HNF1A: from monogenic diabetes to type 2 diabetes and gestational diabetes mellitus. Frontiers in Endocrinology, 13, 829565.

Bonner, C., & Saponaro, C. (2022). Where to for precision treatment of HNF1A-MODY?. Diabetologia, 65(11), 1825-1829.

González, B. J., Zhao, H., Niu, J., Williams, D. J., Lee, J., Goulbourne, C. N., ... & Egli, D. (2022). Reduced calcium levels and accumulation of abnormal insulin granules in stem cell models of HNF1A deficiency. Communications Biology, 5(1), 779.

Kettunen, J. L., Rantala, E., Dwivedi, O. P., Isomaa, B., Sarelin, L., Kokko, P., ... & Tuomi, T. (2022). A multigenerational study on phenotypic consequences of the most common causal variant of HNF1A-MODY. Diabetologia, 1-12.

Cardenas-Diaz, F. L., Osorio-Quintero, C., Diaz-Miranda, M. A., Kishore, S., Leavens, K., Jobaliya, C., ... & Gadue, P. (2019). Modeling monogenic diabetes using human ESCs reveals developmental and metabolic deficiencies caused by mutations in HNF1A. Cell stem cell, 25(2), 273-289.

Valkovicova, T., Skopkova, M., Stanik, J., & Gasperikova, D. (2019). Novel insights into genetics and clinics of the HNF1A-MODY. Endocr Regul, 53(2), 110-134.

Locke, J. M., Saint-Martin, C., Laver, T. W., Patel, K. A., Wood, A. R., Sharp, S. A., ... & Weedon, M. N. (2018). The common HNF1A variant I27L is a modifier of age at diabetes diagnosis in individuals with HNF1A-MODY. Diabetes, 67(9), 1903-1907.

Abel, E. V., Goto, M., Magnuson, B., Abraham, S., Ramanathan, N., Hotaling, E., ... & Simeone, D. M. (2018). HNF1A is a novel oncogene that regulates human pancreatic cancer stem cell properties. Elife, 7, e33947.

Liu, H. T., Liu, S., Liu, L., Ma, R. R., & Gao, P. (2018). EGR1-mediated transcription of lncRNA-HNF1A-AS1 promotes cell-cycle progression in gastric cancer. Cancer research, 78(20), 5877-5890.

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For research use only. Not intended for any clinical use.

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