NR5A2
entrez
2494
canonical
uniprot
O00482
canonical
ensembl
ENSG00000116833
resolver
ensp
ENSP00000236914
resolver
ensp
ENSP00000356331
resolver
ensp
ENSP00000439116
resolver
genesymbol
NR5A2
resolver
genesymbol_syn
B1F
resolver
genesymbol_syn
CPF
resolver
genesymbol_syn
FTF
resolver
hgnc
HGNC:7984
resolver
uniprot
B4E2P3
resolver
uniprot
F1D8R9
resolver
uniprot
O95642
resolver
uniprot
Q147U3
resolver
uniprot_entry
F1D8R9_HUMAN
resolver
uniprot_entry
NR5A2_HUMAN
resolver
uniprot_sec
B4E2P3
resolver
uniprot_sec
O95642
resolver
uniprot_sec
Q147U3
resolver
activity_regulation
ACTIVITY REGULATION: Activated by synthetic agonists RR-RJW100, SR-RJW100, endo sulfamide compound 6N and GSK8470. {ECO:0000269|PubMed:27694446, ECO:0000269|PubMed:31419141, ECO:0000269|PubMed:33335203}.
uniprot
proteins
amino_acid_sequence
MSSNSDTGDLQESLKHGLTPIGAGLPDRHGSPIPARGRLVMLPKVETEALGLARSHGEQGQMPENMQVSQFKMVNYSYDEDLEELCPVCGDKVSGYHYGLLTCESCKGFFKRTVQNNKRYTCIENQNCQIDKTQRKRCPYCRFQKCLSVGMKLEAVRADRMRGGRNKFGPMYKRDRALKQQKKALIRANGLKLEAMSQVIQAMPSDLTISSAIQNIHSASKGLPLNHAALPPTDYDRSPFVTSPISMTMPPHGSLQGYQTYGHFPSRAIKSEYPDPYTSSPESIMGYSYMDSYQTSSPASIPHLILELLKCEPDEPQVQAKIMAYLQQEQANRSKHEKLSTFGLMCKMADQTLFSIVEWARSSIFFRELKVDDQMKLLQNCWSELLILDHIYRQVVHGKEGSIFLVTGQQVDYSIIASQAGATLNNLMSHAQELVAKLRSLQFDQREFVCLKFLVLFSLDVKNLENFQLVEGVQEQVNAALLDYTMCNYPQQTEKFGQLLLRLPEIRAISMQAEEYLYYKHLNGDVPYNNLLIEMLHAKRA
uniprot
proteins
function
FUNCTION: Orphan nuclear receptor that binds DNA as a monomer to the 5'-TCAAGGCCA-3' sequence and controls expression of target genes: regulates key biological processes, such as early embryonic development, cholesterol and bile acid synthesis pathways, as well as liver and pancreas morphogenesis (PubMed:16289203, PubMed:18410128, PubMed:21614002, PubMed:32433991, PubMed:38409506, PubMed:9786908). Ligand-binding causes conformational change which causes recruitment of coactivators, promoting target gene activation (PubMed:21614002). The specific ligand is unknown, but specific phospholipids, such as phosphatidylethanolamine, phosphatidylserine, dilauroyl phosphatidylcholine and diundecanoyl phosphatidylcholine can act as ligand in vitro (PubMed:15707893, PubMed:15723037, PubMed:15897460, PubMed:21614002, PubMed:22504882, PubMed:23737522, PubMed:26416531, PubMed:26553876). Acts as a pioneer transcription factor, which unwraps target DNA from histones and elicits local opening of closed chromatin (PubMed:38409506). Plays a central role during preimplantation stages of embryonic development (By similarity). Plays a minor role in zygotic genome activation (ZGA) by regulating a small set of two-cell stage genes (By similarity). Plays a major role in morula development (2-16 cells embryos) by acting as a master regulator at the 8-cell stage, controlling expression of lineage-specifying transcription factors and genes involved in mitosis, telomere maintenance and DNA repair (By similarity). Zygotic NR5A2 binds to both closed and open chromatin with other transcription factors, often at SINE B1/Alu repeats DNA elements, promoting chromatin accessibility at nearby regulatory regions (By similarity). Also involved in the epiblast stage of development and embryonic stem cell pluripotency, by promoting expression of POU5F1/OCT4 (PubMed:27984042). Regulates other processes later in development, such as formation of connective tissue in lower jaw and middle ear, neural stem cell differentiation, ovarian follicle development and Sertoli cell differentiation (By similarity). Involved in exocrine pancreas development and acinar cell differentiation (By similarity). Acts as an essential transcriptional regulator of lipid metabolism (PubMed:20159957). Key regulator of cholesterol 7-alpha-hydroxylase gene (CYP7A) expression in liver (PubMed:10359768). Also acts as a negative regulator of inflammation in different organs, such as, liver and pancreas (PubMed:20159957). Protects against intestinal inflammation via its ability to regulate glucocorticoid production (By similarity). Plays an anti-inflammatory role during the hepatic acute phase response by acting as a corepressor: inhibits the hepatic acute phase response by preventing dissociation of the N-Cor corepressor complex (PubMed:20159957). Acts as a regulator of immunity by promoting lymphocyte T-cell development, proliferation and effector functions (By similarity). Also involved in resolution of endoplasmic reticulum stress in the liver (By similarity). {ECO:0000250|UniProtKB:P45448, ECO:0000269|PubMed:10359768, ECO:0000269|PubMed:15707893, ECO:0000269|PubMed:15723037, ECO:0000269|PubMed:15897460, ECO:0000269|PubMed:16289203, ECO:0000269|PubMed:18410128, ECO:0000269|PubMed:20159957, ECO:0000269|PubMed:21614002, ECO:0000269|PubMed:22504882, ECO:0000269|PubMed:23737522, ECO:0000269|PubMed:26416531, ECO:0000269|PubMed:26553876, ECO:0000269|PubMed:27984042, ECO:0000269|PubMed:32433991, ECO:0000269|PubMed:38409506, ECO:0000269|PubMed:9786908}.; FUNCTION: [Isoform 3]: In constrast to isoform 1 and isoform 2, does not induce cholesterol 7-alpha-hydroxylase gene (CYP7A) promoter activity. {ECO:0000269|PubMed:10359768}.; FUNCTION: (Microbial infection) Plays a crucial role for hepatitis B virus gene transcription and DNA replication. Mechanistically, synergistically cooperates with HNF1A to up-regulate the activity of one of the critical cis-elements in the hepatitis B virus genome enhancer II (ENII). {ECO:0000269|PubMed:14728801, ECO:0000269|PubMed:9786908}.
uniprot
proteins
mass_dalton
61331
uniprot
proteins
mutagenesis
MUTAGEN 96; /note="Y->A: Slightly reduced DNA binding. Strongly reduced transactivation; when associated with A-168 and A-172."; /evidence="ECO:0000269|PubMed:16289203"; MUTAGEN 148; /note="S->R: Increased ability to activate transcription of target genes."; /evidence="ECO:0000269|PubMed:32433991"; MUTAGEN 159; /note="D->A: Strongly reduced nucleosome-binding. Slightly reduced DNA-binding."; /evidence="ECO:0000269|PubMed:38409506"; MUTAGEN 160..162; /note="RMR->GMP: Decreased DNA-binding to target genes."; /evidence="ECO:0000269|PubMed:27984042"; MUTAGEN 162; /note="R->A: Slightly reduced DNA- and nucleosome-binding."; /evidence="ECO:0000269|PubMed:38409506"; MUTAGEN 168; /note="F->A: Slightly reduced DNA binding. Strongly reduced transactivation; when associated with A-96 and A-172."; /evidence="ECO:0000269|PubMed:16289203"; MUTAGEN 169..170; /note="GP->VA: Reduced DNA binding. Loss of transactivation."; /evidence="ECO:0000269|PubMed:16289203"; MUTAGEN 172; /note="Y->A: Slightly reduced DNA binding. Strongly reduced transactivation; when associated with A-96 and A-168."; /evidence="ECO:0000269|PubMed:16289203"; MUTAGEN 174; /note="R->D: Increased ability to activate transcription of target genes."; /evidence="ECO:0000269|PubMed:32433991"; MUTAGEN 179..183; /note="KQQKK->AQQAA: Increased ability to activate transcription of target genes."; /evidence="ECO:0000269|PubMed:32433991"; MUTAGEN 270; /note="K->R: Impaired ability to act as an anti-inflammatory role during the hepatic acute phase response."; /evidence="ECO:0000269|PubMed:20159957"; MUTAGEN 314; /note="D->R: Decreased interaction with PPARGC1A; decreased ability to increase transcription of target genes."; /evidence="ECO:0000269|PubMed:32433991"; MUTAGEN 324; /note="A->R: Does not affect interaction with PPARGC1A; does not affect ability to increase transcription of target genes."; /evidence="ECO:0000269|PubMed:32433991"; MUTAGEN 342; /note="F->W: Reduced phospholipid binding. Strongly reduced transactivation; when associated with W-416."; /evidence="ECO:0000269|PubMed:15723037"; MUTAGEN 352; /note="T->V: Reduced activation by the synthetic agonists RR-RJW100 and GSK8470."; /evidence="ECO:0000269|PubMed:27694446"; MUTAGEN 390; /note="H->A: Reduced activation by the synthetic agonist GSK8470 without affecting activation by the synthetic agonist RR-RJW100."; /evidence="ECO:0000269|PubMed:27694446"; MUTAGEN 398; /note="G->A: Decreased ability to activate transcription."; /evidence="ECO:0000269|PubMed:22504882"; MUTAGEN 416; /note="I->W: Reduced phospholipid binding. Strongly reduced transactivation; when associated with W-342."; /evidence="ECO:0000269|PubMed:15723037"; MUTAGEN 421; /note="G->A: Decreased ability to activate transcription."; /evidence="ECO:0000269|PubMed:22504882
uniprot
proteins
post_translational_modification
PTM: Sumoylated by SUMO1 at Lys-270 during the hepatic acute phase response, leading to promote interaction with GPS2 and prevent N-Cor corepressor complex dissociation. {ECO:0000269|PubMed:20159957}.
uniprot
proteins
protein_family
NR5 subfamily
uniprot
proteins
protein_family
Nuclear hormone receptor family
uniprot
proteins
pubmed
10359768
uniprot
proteins
pubmed
11595170
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
14728801
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15707893
uniprot
proteins
pubmed
15723037
uniprot
proteins
pubmed
15897460
uniprot
proteins
pubmed
16289203
uniprot
proteins
pubmed
16710414
uniprot
proteins
pubmed
18410128
uniprot
proteins
pubmed
20159957
uniprot
proteins
pubmed
21614002
uniprot
proteins
pubmed
22187462
uniprot
proteins
pubmed
22504882
uniprot
proteins
pubmed
23737522
uniprot
proteins
pubmed
26416531
uniprot
proteins
pubmed
26553876
uniprot
proteins
pubmed
27694446
uniprot
proteins
pubmed
27984042
uniprot
proteins
pubmed
28363985
uniprot
proteins
pubmed
28642062
uniprot
proteins
pubmed
31419141
uniprot
proteins
pubmed
32433991
uniprot
proteins
pubmed
32631515
uniprot
proteins
pubmed
33335203
uniprot
proteins
pubmed
35503419
uniprot
proteins
pubmed
38409506
uniprot
proteins
pubmed
9786908
uniprot
proteins
pubmed
9858833
uniprot
proteins
sequence_length
541
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:28642062}. Chromosome {ECO:0000269|PubMed:15723037, ECO:0000269|PubMed:16289203}.
uniprot
proteins