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HNF1A
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.
Protein class
Cancer-related genes, Human disease related genes
Predicted location
Intracellular
Single cell type specificity
Cell type enhanced (Proximal enterocytes, Proximal tubular cells, Hepatocytes, Paneth cells, Distal enterocytes, Undifferentiated cells, Intestinal goblet cells)
Immune cell specificity
Not detected in immune cells
Cell line specificity
Group enriched (A549, CACO-2, Hep G2, OE19)
Interaction
Binds DNA as a dimer (PubMed:12453420). Heterotetramer with PCBD1; formed by a dimer of dimers (By similarity). Interacts with PCBD1 (PubMed:10966642). Interacts with BHLHE41 (By similarity).
More Types Infomation
Related Diseases
Type I Diabetes Mellitus
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- Derivation: Mouse
- Species Reactivity: Human
- Type: Mouse IgG2a
- Application: WB, IHC
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- Derivation: Mouse
- Species Reactivity: Human
- Type: Mouse IgG1
- Application: WB
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- Species Reactivity: Human
- Type: Mouse IgG
- Application: WB, ELISA
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For Research Use Only. Not For Clinical Use.