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HNF4A

The protein encoded by this gene is a nuclear transcription factor which binds DNA as a homodimer. The encoded protein controls the expression of several genes, including hepatocyte nuclear factor 1 alpha, a transcription factor which regulates the expression of several hepatic genes. This gene may play a role in development of the liver, kidney, and intestines. Mutations in this gene have been associated with monogenic autosomal dominant non-insulin-dependent diabetes mellitus type I. Alternative splicing of this gene results in multiple transcript variants encoding several different isoforms. [provided by RefSeq, Apr 2012]
Protein class

Disease related genes, Human disease related genes, Nuclear receptors, Transcription factors

Predicted location

Intracellular

Single cell type specificity

Cell type enhanced (Distal enterocytes, Hepatocytes, Proximal tubular cells, Proximal enterocytes, Undifferentiated cells, Paneth cells, Intestinal goblet cells)

Immune cell specificity

Not detected in immune cells

Cell line specificity

Group enriched (CACO-2, Hep G2, OE19)

Interaction

Homodimerization is required for HNF4-alpha to bind to its recognition site (PubMed:14982928). Interacts with CLOCK, ARNTL, CRY1, CRY2, PER1 and PER2 (PubMed:30530698). Interacts with NR0B2/SHP; the resulting heterodimer is transcriptionnally inactive (PubMed:28128295). Interacts with DDX3X; this interaction disrupts the interaction between HNF4 and NR0B2 that forms inactive heterodimers and enhances the formation of active HNF4 homodimers (PubMed:28128295).

Molecular function

Activator, DNA-binding, Receptor, Repressor

More Types Infomation

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For Research Use Only. Not For Clinical Use.

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