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alpha-1-fetoprotein transcription factor; orphan nuclear receptor NR5A2; hepatocytic transcription factor; B1-binding factor; hB1F; CYP7A promoter binding factor; nuclear receptor subfamily 5 group A member 2; liver receptor homolog 1; LRH-1 (NR5A2, B1F, CPF, FTF)

Function: - key regulator of cholesterol 7-alpha-hydroxylase gene (CYP7A) expression in liver - may also contribute to the regulation of pancreas-specific genes - may play a role in embryonic development - binds DNA as a monomer (putative) - interacts with GRIP1, NCOA2 & NR0B2 Structure: - belongs to the nuclear hormone receptor family, NR5 subfamily - contains 1 nuclear receptor DNA-binding domain Compartment: nucleus (probable) Alternative splicing: named isoforms=3 Expression: - expressed in pancreas > liver > heart & lung - expressed in hepG2 - isoform 1 & isoform 2 seem to be present in fetal & adult liver & hepG2 cells Pathology: - binds to the sequence element 5'-AACGACCGACCTTGAG-3' of the enhancer II of hepatitis B virus genes, a critical cis-element of their expression & regulation - may be responsable for the liver-specific activity of enhancer II, probably in combination with other hepatocyte transcription factors.

General

nuclear hormone receptor NR5 subfamily

Properties

SIZE: entity length = 541 aa MW = 61 kD COMPARTMENT: cell nucleus MOTIF: DNA-binding motif SITE: 83-154 MOTIF: Zn finger C4-type SITE: 86-106 EFFECTOR-BOUND: Zn+2 Zn finger C4-type SITE: 122-146 EFFECTOR-BOUND: Zn+2 FTZ-F1 box {155-184} binding site SITE: 342-390 FOR-BINDING-OF: ligand Lipid binding {419-424} binding site SITE: 516-516 FOR-BINDING-OF: Lipid headgroup binding site SITE: 520-520 FOR-BINDING-OF: Lipid headgroup

Database Correlations

OMIM 604453 UniProt O00482 PFAM correlations Kegg hsa:2494

References

UniProt :accession O00482