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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