Homo sapiens Protein: NR5A2
Summary
InnateDB Protein IDBP-105632.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol NR5A2
Protein Name nuclear receptor subfamily 5, group A, member 2
Synonyms B1F; B1F2; CPF; FTF; FTZ-F1; FTZ-F1beta; hB1F-2; LRH-1; LRH1;
Species Homo sapiens
Ensembl Protein ENSP00000356331
InnateDB Gene IDBG-105630 (NR5A2)
Protein Structure
UniProt Annotation
Function Binds to the sequence element 5'-AACGACCGACCTTGAG-3' of the enhancer II of hepatitis B virus genes, a critical cis-element of their expression and regulation. May be responsible for the liver-specific activity of enhancer II, probably in combination with other hepatocyte transcription factors. Key regulator of cholesterol 7-alpha-hydroxylase gene (CYP7A) expression in liver. May also contribute to the regulation of pancreas-specific genes and play important roles in embryonic development.
Subcellular Localization Nucleus {ECO:0000305}.
Disease Associations
Tissue Specificity Abundantly expressed in pancreas, less in liver, very low levels in heart and lung. Expressed in the Hep-G2 cell line. Isoform 1 and isoform 2 seem to be present in fetal and adult liver and Hep-G2 cells.
Comments
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 37 experimentally validated interaction(s) in this database.
They are also associated with 4 interaction(s) predicted by orthology.
Experimentally validated
Total 37 [view]
Protein-Protein 33 [view]
Protein-DNA 4 [view]
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 4 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0000978 RNA polymerase II core promoter proximal region sequence-specific DNA binding
GO:0001077 RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription
GO:0003677 DNA binding
GO:0003700 sequence-specific DNA binding transcription factor activity
GO:0003705 RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity
GO:0003707 steroid hormone receptor activity
GO:0004879 ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity
GO:0005515 protein binding
GO:0005543 phospholipid binding
GO:0008270 zinc ion binding
GO:0043565 sequence-specific DNA binding
GO:0044212 transcription regulatory region DNA binding
Biological Process
GO:0006355 regulation of transcription, DNA-templated
GO:0006367 transcription initiation from RNA polymerase II promoter
GO:0008206 bile acid metabolic process
GO:0009790 embryo development
GO:0010467 gene expression
GO:0030522 intracellular receptor signaling pathway
GO:0031018 endocrine pancreas development
GO:0042127 regulation of cell proliferation
GO:0042592 homeostatic process
GO:0042632 cholesterol homeostasis
GO:0043401 steroid hormone mediated signaling pathway
GO:0045070 positive regulation of viral genome replication
GO:0045893 positive regulation of transcription, DNA-templated
GO:0045944 positive regulation of transcription from RNA polymerase II promoter
Cellular Component
GO:0005634 nucleus
GO:0005654 nucleoplasm
GO:0005737 cytoplasm
Protein Structure and Domains
PDB ID
InterPro IPR000536 Nuclear hormone receptor, ligand-binding, core
IPR001628 Zinc finger, nuclear hormone receptor-type
IPR001723 Steroid hormone receptor
IPR008946 Nuclear hormone receptor, ligand-binding
IPR016355 Steroidogenic factor 1
PFAM PF00104
PF00105
PRINTS PR00047
PR00398
PIRSF PIRSF002530
SMART SM00430
SM00399
TIGRFAMs
Post-translational Modifications
Modification
Cross-References
SwissProt O00482
PhosphoSite PhosphoSite-O00482
TrEMBL Q8WY08
UniProt Splice Variant
Entrez Gene 2494
UniGene Hs.33446
RefSeq NP_995582
HUGO HGNC:7984
OMIM 604453
CCDS CCDS1401
HPRD 06830
IMGT
EMBL AC096633 AF124247 AF146343 AF190464 AF319643 AK304365 AK316513 BC118571 BC118652 CH471067 U80251 U93553
GenPept AAC78727 AAD03155 AAD26565 AAD37378 AAG17124 AAG17125 AAI18572 AAI18653 AAL37171 BAG65205 BAH14884 EAW91306