Description
Key facts
Cell type:HCT116,
Species or organism:Human,
Tissue:Colon,
Form:LiquidSee storage information,
Knockout validation:Next Generation Sequencing,
Disease:Carcinoma
Product details:
Although we aim to provide customers with a homozygous clone, feasibility will be dependent on the biology of the protein. Should only heterozygous edits be achieved, you will be notified of the outcome and be asked to confirm whether the cell line is acceptable. All clones will be accompanied with DNA sequencing data, and the mutation description.
Recommended control
: Human wild-type HCT116 cell line (ab288559). Please note a wild-type cell line is not automatically included with a knockout cell line order, if required please add recommended wild-type cell line at no additional cost using the code WILDTYPE-TMTK1.
We will provide viable cells that proliferate on revival.
This product is subject to limited use licenses from The Broad Institute and ERS Genomics Limited, and is developed with patented technology. For full details of the limited use licenses and relevant patents please refer to our
limited use license
patent pages
Properties and Storage Information:
Gene name-HNF1A, Gene editing type-Knockout, Gene editing method-CRISPR technology, Knockout validation-Next Generation Sequencing, Shipped at conditions-Dry Ice, Appropriate short-term storage conditions--196°C, Appropriate long-term storage conditions--196°C
Supplementary Information:
This supplementary information is collated from multiple sources and compiled automatically.
The HNF1 alpha also known as hepatocyte nuclear factor 1 alpha is a transcription factor that has an important role in regulating gene expression. It has a mass of approximately 67 kDa. Predominantly HNF1 alpha appears in the liver kidney intestines and pancreas. It binds to enhancer elements of target genes affecting the transcriptional activity. The protein is also vital for cellular differentiation and maintenance in tissues where it is expressed.
Biological function summary
The HNF1 alpha functions as part of the dimeric HNF1 protein complex often partnering with HNF1 beta. It governs a wide array of genes including those involved in carbohydrate and lipid metabolism. By influencing the gene expression HNF1 alpha assists in maintaining normal metabolic processes. Its activity is critical for proper liver function and insulin secretion from pancreatic beta cells.
Pathways
HNF1 alpha actively integrates into key metabolic pathways such as the gluconeogenesis and the cholesterol biosynthesis pathways. In these pathways it works alongside other proteins like HNF4 alpha and PGC-1 alpha contributing significantly to glucose and lipid homeostasis. The transcription factor impacts the metabolic pathway reinforcing its integral role in maintaining energy balance and metabolic health.
HNF1 alpha is importantly linked to maturity-onset diabetes of the young (MODY) and certain forms of liver disease. Mutations or dysregulation in HNF1 alpha can cause MODY3 a subtype of diabetes characterized by an autosomal dominant pattern of inheritance. Additionally the abnormal activity of HNF1 alpha may contribute to liver dysfunction often in conjunction with HNF4 alpha disruptions. These associations highlight the importance of HNF1 alpha in both metabolic pathway integrity and disease pathology.
