Mouse Anti-HNF1A (AA 35-268) Recombinant Antibody (CBFYH-2924) (CBMAB-H2575-FY)

Name: Mouse Anti-HNF1A (AA 35-268) Recombinant Antibody (CBFYH-2924)
SKU: CBMAB-H2575-FY
Rating: 5 (1 reviews)

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Datasheet

SDS

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Datasheet Target References Q & As Review & reward Protocols Associated Products

Basic Information

Host Animal

Mouse

Clone

CBFYH-2924

Application

Immunogen

Recombinant fragment contains a sequence corresponding to a region within amino acids 35 and 268 of HNF1A

Specificity

Human

Antibody Isotype

IgG2a

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

PBS, pH 7

Concentration

1 mg/mL

Storage

Store at +4°C short term (1-2 weeks). Aliquot and store at -20°C long term. Avoid repeated freeze/thaw cycles.

Epitope

AA 35-268

More Infomation

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.

Entrez Gene ID

6927

UniProt ID

P20823

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.

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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Please try the standard protocols which include: protocols, troubleshooting and guide.

Enzyme-linked Immunosorbent Assay (ELISA)
Flow Cytometry
Immunofluorescence (IF)
Immunohistochemistry (IHC)
Immunoprecipitation (IP)
Western Blot (WB)
Enzyme-Linked Immunospot (ELISpot)
Proteogenomics
Other Protocols

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

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