Liver receptor homolog-1

NR5A2
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 4RWV, 1YOK, 1YUC, 1ZDU, 2A66, 3PLZ, 3TX7, 4DOR, 4DOS, 4IS8, 4ONI, 4PLD, 4PLE
Identifiers
Aliases	NR5A2, B1F, B1F2, CPF, FTF, FTZ-F1, FTZ-F1beta, LRH-1, LRH1, hB1F-2, nuclear receptor subfamily 5 group A member 2
External IDs	OMIM: 604453 MGI: 1346834 HomoloGene: 20827 GeneCards: NR5A2
Gene location (Human) Chr. Chromosome 1 (human)[1] Band 1q32.1 Start 200,027,614 bp[1] End 200,177,420 bp[1]
Gene location (Mouse) Chr. Chromosome 1 (mouse)[2] Band 1 59.98 cM|1 E4 Start 136,770,309 bp[2] End 136,888,186 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in body of pancreas islet of Langerhans jejunal mucosa liver right lobe of liver duodenum rectum pancreatic ductal cell gallbladder visceral pleura Top expressed in cumulus cell ovarian follicle left lobe of liver left colon exocrine pancreas secondary oocyte morula crypt of lieberkuhn of small intestine Paneth cell jejunum More reference expression data BioGPS n/a
Gene ontology Molecular function RNA polymerase II cis-regulatory region sequence-specific DNA binding DNA binding sequence-specific DNA binding DNA-binding transcription factor activity zinc ion binding DNA-binding transcription activator activity, RNA polymerase II-specific chromatin binding transcription cis-regulatory region binding metal ion binding steroid hormone receptor activity nuclear receptor activity protein binding transcription factor activity, RNA polymerase II distal enhancer sequence-specific binding double-stranded DNA binding phospholipid binding lipid binding DNA-binding transcription factor activity, RNA polymerase II-specific Cellular component cytoplasm nucleoplasm RNA polymerase II transcription regulator complex nucleus Biological process regulation of transcription, DNA-templated epithelial cell differentiation pancreas morphogenesis bile acid metabolic process transcription, DNA-templated positive regulation of transcription, DNA-templated intracellular receptor signaling pathway regulation of cell population proliferation tissue development hormone-mediated signaling pathway cholesterol homeostasis positive regulation of viral genome replication transcription initiation from RNA polymerase II promoter steroid hormone mediated signaling pathway positive regulation of transcription by RNA polymerase II homeostatic process calcineurin-mediated signaling cellular response to leukemia inhibitory factor embryo development ending in birth or egg hatching Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 2494 26424 Ensembl ENSG00000116833 ENSMUSG00000026398 UniProt O00482 P45448 RefSeq (mRNA) NM_001276464 NM_003822 NM_205860 NM_001159769 NM_030676 RefSeq (protein) NP_001263393 NP_003813 NP_995582 NP_001153241 NP_109601 Location (UCSC) Chr 1: 200.03 – 200.18 Mb Chr 1: 136.77 – 136.89 Mb PubMed search [3] [4]
Wikidata
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The liver receptor homolog-1 (LRH-1) also known as totipotency pioneer factor NR5A2 (nuclear receptor subfamily 5, group A, member 2) is a protein that in humans is encoded by the NR5A2 gene.^[5][6] LRH-1 is a member of the nuclear receptor family of intracellular transcription factors.

LRH-1 plays a critical role in the regulation of development, cholesterol transport, bile acid homeostasis and steroidogenesis.^{[7][8][9][10]}

LRH-1 is important for maintaining pluripotence of stem cells during embryonic development.^[11][10]

Nr5a2 was recently identified at a totipotent pioneer factor.^[10] The orphan nuclear receptor Nr5a2 has been shown to be important in fertility, ovarian function,^[12] and zygotic genome activation (ZGA).^[10] Heterozygosity for Nr5a2 is associated with reduced ovarian function, specifically in the synthesis of progesterone. This impaired progesterone production was associated with infertility in female mice, as well as increased incidence of pregnancy loss.^[12] The loss of embryos around implantation associated with Nr5a2+/- mice indicated a possible interaction with genome-wide gene expression in early embryo development. Upon further investigation, Nr5a2 was found to regulate ZGA in mice embryos similar to that of Zelda in Drosophila. Nr5a2 is maternally contributed and regulates transcription activity in the early embryo by binding to distal cis-regulatory sequences and promoting chromatin accessibility. The change in chromatin conformation allows for the activation of transcription of about 72% of genes involved in ZGA.^[10]

Interactions

Liver receptor homolog-1 has been shown to interact with the small heterodimer partner.^[13][14]

References

Further reading

External links

• NR5A2+protein,+human at the U.S. National Library of Medicine Medical Subject Headings (MeSH)

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