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HNF1B
This gene encodes a member of the homeodomain-containing superfamily of transcription factors. The protein binds to DNA as either a homodimer, or a heterodimer with the related protein hepatocyte nuclear factor 1-alpha. The gene has been shown to function in nephron development, and regulates development of the embryonic pancreas. Mutations in this gene result in renal cysts and diabetes syndrome and noninsulin-dependent diabetes mellitus, and expression of this gene is altered in some types of cancer. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Sep 2009]
Protein class
Disease related genes, Human disease related genes, Transcription factors
Predicted location
Intracellular
Single cell type specificity
Cell type enhanced (Cholangiocytes, Collecting duct cells, Distal tubular cells, Ductal cells, Glandular and luminal cells, Proximal tubular cells, Early spermatids, Pancreatic endocrine cells)
Immune cell specificity
Not detected in immune cells
Cell line specificity
Cell line enriched (RPTEC TERT1)
Interaction
Binds DNA as a dimer. Can form homodimer or heterodimer with HNF1-alpha. Interacts (via HNF-p1 domain) with PCBD1; the interaction increases its transactivation activity (PubMed:24204001).
Molecular function
Activator, DNA-binding
More Types Infomation
Related Diseases
Type I Diabetes Mellitus
-
- Derivation: Phage display library
- Species Reactivity: Human
- Type: Rabbit IgG
- Application: WB
-
- Type: Mouse IgG2a
- Application: ELISA, WB, IHC, ICC, FC
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- Type: Mouse IgG1
- Application: ELISA, WB, IHC, ICC, FC
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For Research Use Only. Not For Clinical Use.