HUMAN:NR5A2

Species (Taxon ID)	Homo sapiens (Human). (9606)
Gene Name(s)	NR5A2 (synonyms: B1F, CPF, FTF)
Protein Name(s)	Nuclear receptor subfamily 5 group A member 2 Alpha-1-fetoprotein transcription factor B1-binding factor hB1F CYP7A promoter-binding factor Hepatocytic transcription factor Liver receptor homolog 1 LRH-1
External Links
UniProt	O00482
EMBL	U80251 AF146343 AF124247 AF190464 AF190464 AK304365 AK316513 AC096633 CH471067 BC118571 BC118652 U93553
CCDS	CCDS1400.1 CCDS1401.1 CCDS60383.1
RefSeq	NP_001263393.1 NP_003813.1 NP_995582.1 XP_005245119.1
UniGene	Hs.33446
PDB	1YOK 1YUC 1ZDU 2A66 3PLZ 3TX7 4DOR 4DOS 4IS8
PDBsum	1YOK 1YUC 1ZDU 2A66 3PLZ 3TX7 4DOR 4DOS 4IS8
ProteinModelPortal	O00482
SMR	O00482
BioGrid	108772
DIP	DIP-37952N
IntAct	O00482
MINT	MINT-2997724
STRING	9606.ENSP00000356331
BindingDB	O00482
ChEMBL	CHEMBL3544
PhosphoSite	O00482
PaxDb	O00482
PRIDE	O00482
Ensembl	ENST00000236914 ENST00000367362 ENST00000544748
GeneID	2494
KEGG	hsa:2494
UCSC	uc001gvb.4
CTD	2494
GeneCards	GC01P199996
HGNC	HGNC:7984
HPA	HPA005455 HPA017067
MIM	604453
neXtProt	NX_O00482
PharmGKB	PA31765
eggNOG	NOG240365
GeneTree	ENSGT00760000118887
HOGENOM	HOG000063718
HOVERGEN	HBG106677
InParanoid	O00482
KO	K08027
OMA	RGKHEKL
OrthoDB	EOG7BS4B9
PhylomeDB	O00482
TreeFam	TF350737
Reactome	REACT_13778 REACT_15525
SignaLink	O00482
EvolutionaryTrace	O00482
GeneWiki	Liver_receptor_homolog-1
GenomeRNAi	2494
NextBio	35477332
PRO	PR:O00482
Proteomes	UP000005640
Bgee	O00482
CleanEx	HS_NR5A2
ExpressionAtlas	O00482
Genevestigator	O00482
GO	GO:0005737 GO:0005654 GO:0005634 GO:0003677 GO:0004879 GO:0005543 GO:0000978 GO:0001077 GO:0003705 GO:0043565 GO:0003700 GO:0003707 GO:0044212 GO:0008270 GO:0008206 GO:0042632 GO:0009790 GO:0031018 GO:0010467 GO:0042592 GO:0030522 GO:0045893 GO:0045070 GO:0042127 GO:0006355 GO:0006367
Gene3D	1.10.565.10 3.30.50.10
InterPro	IPR008946 IPR000536 IPR016355 IPR001723 IPR001628 IPR013088
Pfam	PF00104 PF00105
PIRSF	PIRSF002530
PRINTS	PR00398 PR00047
SMART	SM00430 SM00399
SUPFAM	SSF48508
PROSITE	PS00031 PS51030

Annotations

Qualifier	GO ID	GO term name	Reference	ECO ID	ECO term name	with/from	Aspect	Extension	Notes	Status
enables	GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	PMID:19274049^[1]	ECO:0000303	author statement without traceable support used in manual assertion		F		Seeded From UniProt	complete
enables	GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	PMID:19274049^[1]	ECO:0000255	match to sequence model evidence used in manual assertion	InterPro:IPR000324 InterPro:IPR001628 InterPro:IPR001723	F		Seeded From UniProt	complete
enables	GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	GO_REF:0000113	ECO:0005556	multiple sequence alignment evidence used in manual assertion	UniProtKB:P45448	F		Seeded From UniProt	complete
part_of	GO:0090575	RNA polymerase II transcription factor complex	GO_REF:0000024	ECO:0000250	sequence similarity evidence used in manual assertion	UniProtKB:P45448	C		Seeded From UniProt	complete
enables	GO:0003682	chromatin binding	GO_REF:0000024	ECO:0000250	sequence similarity evidence used in manual assertion	UniProtKB:P45448	F		Seeded From UniProt	complete
enables	GO:0000980	RNA polymerase II distal enhancer sequence-specific DNA binding	GO_REF:0000024	ECO:0000250	sequence similarity evidence used in manual assertion	UniProtKB:P45448	F		Seeded From UniProt	complete
involved_in	GO:0045944	positive regulation of transcription by RNA polymerase II	GO_REF:0000024	ECO:0000250	sequence similarity evidence used in manual assertion	UniProtKB:P45448	P		Seeded From UniProt	complete
involved_in	GO:0045893	positive regulation of transcription, DNA-templated	PMID:15143342^[2]	ECO:0000314	direct assay evidence used in manual assertion		P		Seeded From UniProt	complete
involved_in	GO:0045070	positive regulation of viral genome replication	PMID:19264593^[3]	ECO:0000314	direct assay evidence used in manual assertion		P		Seeded From UniProt	complete
enables	GO:0044212	transcription regulatory region DNA binding	PMID:15205472^[4]	ECO:0000314	direct assay evidence used in manual assertion		F		Seeded From UniProt	complete
part_of	GO:0005737	cytoplasm	PMID:15205472^[4]	ECO:0000314	direct assay evidence used in manual assertion		C		Seeded From UniProt	complete
part_of	GO:0005634	nucleus	PMID:15205472^[4]	ECO:0000314	direct assay evidence used in manual assertion		C		Seeded From UniProt	complete
part_of	GO:0005634	nucleus	PMID:15143342^[2]	ECO:0000314	direct assay evidence used in manual assertion		C		Seeded From UniProt	complete
enables	GO:0003700	DNA-binding transcription factor activity	PMID:15205472^[4]	ECO:0000314	direct assay evidence used in manual assertion		F		Seeded From UniProt	complete
enables	GO:0043565	sequence-specific DNA binding	PMID:16289203^[5]	ECO:0000314	direct assay evidence used in manual assertion		F		Seeded From UniProt	complete
involved_in	GO:0042592	homeostatic process	PMID:16289203^[5]	ECO:0000303	author statement without traceable support used in manual assertion		P		Seeded From UniProt	complete
involved_in	GO:0006355	regulation of transcription, DNA-templated	PMID:15723037^[6]	ECO:0000314	direct assay evidence used in manual assertion		P		Seeded From UniProt	complete
enables	GO:0005543	phospholipid binding	PMID:15723037^[6]	ECO:0000314	direct assay evidence used in manual assertion		F		Seeded From UniProt	complete
enables	GO:0003700	DNA-binding transcription factor activity	PMID:15723037^[6]	ECO:0000314	direct assay evidence used in manual assertion		F		Seeded From UniProt	complete
enables	GO:0003700	DNA-binding transcription factor activity	PMID:16289203^[5]	ECO:0000314	direct assay evidence used in manual assertion		F		Seeded From UniProt	complete
enables	GO:0003677	DNA binding	PMID:16289203^[5]	ECO:0000314	direct assay evidence used in manual assertion		F		Seeded From UniProt	complete
part_of	GO:0090575	RNA polymerase II transcription factor complex	PMID:21873635^[7]	ECO:0000318	biological aspect of ancestor evidence used in manual assertion	MGI:MGI:1346833 MGI:MGI:1346834 PANTHER:PTN000639680	C		Seeded From UniProt	complete
involved_in	GO:0045944	positive regulation of transcription by RNA polymerase II	PMID:21873635^[7]	ECO:0000318	biological aspect of ancestor evidence used in manual assertion	FB:FBgn0001078 MGI:MGI:1346833 MGI:MGI:1346834 PANTHER:PTN000639680 UniProtKB:Q13285 WB:WBGene00003623	P		Seeded From UniProt	complete
involved_in	GO:0009888	tissue development	PMID:21873635^[7]	ECO:0000318	biological aspect of ancestor evidence used in manual assertion	MGI:MGI:1346833 PANTHER:PTN000639680	P		Seeded From UniProt	complete
involved_in	GO:0009755	hormone-mediated signaling pathway	PMID:21873635^[7]	ECO:0000318	biological aspect of ancestor evidence used in manual assertion	PANTHER:PTN000639680 RGD:68350	P		Seeded From UniProt	complete
enables	GO:0004879	nuclear receptor activity	PMID:21873635^[7]	ECO:0000318	biological aspect of ancestor evidence used in manual assertion	FB:FBgn0261239 PANTHER:PTN000639680 RGD:68353 UniProtKB:Q13285	F		Seeded From UniProt	complete
enables	GO:0003682	chromatin binding	PMID:21873635^[7]	ECO:0000318	biological aspect of ancestor evidence used in manual assertion	MGI:MGI:1346833 MGI:MGI:1346834 PANTHER:PTN000639680	F		Seeded From UniProt	complete
enables	GO:0000976	transcription regulatory region sequence-specific DNA binding	PMID:21873635^[7]	ECO:0000318	biological aspect of ancestor evidence used in manual assertion	FB:FBgn0001078 PANTHER:PTN000639680	F		Seeded From UniProt	complete
involved_in	GO:0030522	intracellular receptor signaling pathway	GO_REF:0000108	ECO:0000366	evidence based on logical inference from automatic annotation used in automatic assertion	GO:0004879	P		Seeded From UniProt	complete
involved_in	GO:0030522	intracellular receptor signaling pathway	GO_REF:0000108	ECO:0000364	evidence based on logical inference from manual annotation used in automatic assertion	GO:0004879	P		Seeded From UniProt	complete
involved_in	GO:0030522	intracellular receptor signaling pathway	GO_REF:0000108	ECO:0000364	evidence based on logical inference from manual annotation used in automatic assertion	GO:0004879	P		Seeded From UniProt	complete
involved_in	GO:0043401	steroid hormone mediated signaling pathway	GO_REF:0000108	ECO:0000366	evidence based on logical inference from automatic annotation used in automatic assertion	GO:0003707	P		Seeded From UniProt	complete
involved_in	GO:1990830	cellular response to leukemia inhibitory factor	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:P45448 ensembl:ENSMUSP00000027649	P		Seeded From UniProt	complete
part_of	GO:0090575	RNA polymerase II transcription factor complex	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:P45448 ensembl:ENSMUSP00000027649	C		Seeded From UniProt	complete
involved_in	GO:0061113	pancreas morphogenesis	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:P45448 ensembl:ENSMUSP00000027649	P		Seeded From UniProt	complete
involved_in	GO:0045944	positive regulation of transcription by RNA polymerase II	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:P45448 ensembl:ENSMUSP00000027649	P		Seeded From UniProt	complete
involved_in	GO:0045893	positive regulation of transcription, DNA-templated	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:P45448 ensembl:ENSMUSP00000027649	P		Seeded From UniProt	complete
involved_in	GO:0042632	cholesterol homeostasis	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:P45448 ensembl:ENSMUSP00000027649	P		Seeded From UniProt	complete
involved_in	GO:0042127	regulation of cell population proliferation	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:P45448 ensembl:ENSMUSP00000027649	P		Seeded From UniProt	complete
involved_in	GO:0030855	epithelial cell differentiation	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:P45448 ensembl:ENSMUSP00000027649	P		Seeded From UniProt	complete
involved_in	GO:0008206	bile acid metabolic process	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:P45448 ensembl:ENSMUSP00000027649	P		Seeded From UniProt	complete
part_of	GO:0005634	nucleus	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:P45448 ensembl:ENSMUSP00000027649	C		Seeded From UniProt	complete
enables	GO:0003682	chromatin binding	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:P45448 ensembl:ENSMUSP00000027649	F		Seeded From UniProt	complete
enables	GO:0003677	DNA binding	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:P45448 ensembl:ENSMUSP00000027649	F		Seeded From UniProt	complete
enables	GO:0001228	DNA-binding transcription activator activity, RNA polymerase II-specific	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:P45448 ensembl:ENSMUSP00000027649	F		Seeded From UniProt	complete
enables	GO:0000980	RNA polymerase II distal enhancer sequence-specific DNA binding	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:P45448 ensembl:ENSMUSP00000027649	F		Seeded From UniProt	complete
enables	GO:0000978	RNA polymerase II proximal promoter sequence-specific DNA binding	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:P45448 ensembl:ENSMUSP00000027649	F		Seeded From UniProt	complete
involved_in	GO:0097720	calcineurin-mediated signaling	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q9QWM1 ensembl:ENSRNOP00000000812	P		Seeded From UniProt	complete
enables	GO:0004879	nuclear receptor activity	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q9QWM1 ensembl:ENSRNOP00000000812	F		Seeded From UniProt	complete
enables	GO:0003690	double-stranded DNA binding	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q9QWM1 ensembl:ENSRNOP00000000812	F		Seeded From UniProt	complete
enables	GO:0003677	DNA binding	GO_REF:0000002	ECO:0000256	match to sequence model evidence used in automatic assertion	InterPro:IPR001723	F		Seeded From UniProt	complete
enables	GO:0003700	DNA-binding transcription factor activity	GO_REF:0000002	ECO:0000256	match to sequence model evidence used in automatic assertion	InterPro:IPR001628	F		Seeded From UniProt	complete
enables	GO:0003707	steroid hormone receptor activity	GO_REF:0000002	ECO:0000256	match to sequence model evidence used in automatic assertion	InterPro:IPR001723	F		Seeded From UniProt	complete
part_of	GO:0005634	nucleus	GO_REF:0000002	ECO:0000256	match to sequence model evidence used in automatic assertion	InterPro:IPR001628 InterPro:IPR001723	C		Seeded From UniProt	complete
involved_in	GO:0006355	regulation of transcription, DNA-templated	GO_REF:0000002	ECO:0000256	match to sequence model evidence used in automatic assertion	InterPro:IPR001628 InterPro:IPR001723 InterPro:IPR013088	P		Seeded From UniProt	complete
enables	GO:0008270	zinc ion binding	GO_REF:0000002	ECO:0000256	match to sequence model evidence used in automatic assertion	InterPro:IPR001628 InterPro:IPR013088	F		Seeded From UniProt	complete
enables	GO:0043565	sequence-specific DNA binding	GO_REF:0000002	ECO:0000256	match to sequence model evidence used in automatic assertion	InterPro:IPR001628	F		Seeded From UniProt	complete
enables	GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	PMID:9786908^[8]	ECO:0000304	author statement supported by traceable reference used in manual assertion		F	occurs_at:(SO:0000165)	Seeded From UniProt	complete
involved_in	GO:0045893	positive regulation of transcription, DNA-templated	PMID:15205472^[4]	ECO:0000304	author statement supported by traceable reference used in manual assertion		P		Seeded From UniProt	complete
involved_in	GO:0009792	embryo development ending in birth or egg hatching	PMID:16289203^[5]	ECO:0000304	author statement supported by traceable reference used in manual assertion		P		Seeded From UniProt	complete
involved_in	GO:0006355	regulation of transcription, DNA-templated	PMID:16289203^[5]	ECO:0000304	author statement supported by traceable reference used in manual assertion		P		Seeded From UniProt	complete
enables	GO:0004879	nuclear receptor activity	PMID:16271724^[9]	ECO:0000304	author statement supported by traceable reference used in manual assertion		F		Seeded From UniProt	complete
involved_in	GO:0006367	transcription initiation from RNA polymerase II promoter	Reactome:R-HSA-383280	ECO:0000304	author statement supported by traceable reference used in manual assertion		P		Seeded From UniProt	complete
part_of	GO:0005654	nucleoplasm	Reactome:R-HSA-9012000 Reactome:R-HSA-4755494 Reactome:R-HSA-376419	ECO:0000304	author statement supported by traceable reference used in manual assertion		C		Seeded From UniProt	complete
enables	GO:0003677	DNA binding	GO_REF:0000037	ECO:0000322	imported manually asserted information used in automatic assertion	UniProtKB-KW:KW-0238	F		Seeded From UniProt	complete
part_of	GO:0005634	nucleus	GO_REF:0000037 GO_REF:0000039	ECO:0000322	imported manually asserted information used in automatic assertion	UniProtKB-KW:KW-0539 UniProtKB-SubCell:SL-0191	C		Seeded From UniProt	complete
enables	GO:0008289	lipid binding	GO_REF:0000037	ECO:0000322	imported manually asserted information used in automatic assertion	UniProtKB-KW:KW-0446	F		Seeded From UniProt	complete
enables	GO:0046872	metal ion binding	GO_REF:0000037	ECO:0000322	imported manually asserted information used in automatic assertion	UniProtKB-KW:KW-0479	F		Seeded From UniProt	complete
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Notes

References

See Help:References for how to manage references in GONUTS.

↑ ^1.0 ^1.1 Vaquerizas, JM et al. (2009) A census of human transcription factors: function, expression and evolution. Nat. Rev. Genet. 10 252-63 PubMed GONUTS page
↑ ^2.0 ^2.1 Steffensen, KR et al. (2004) Functional conservation of interactions between a homeodomain cofactor and a mammalian FTZ-F1 homologue. EMBO Rep. 5 613-9 PubMed GONUTS page
↑ Qin, J et al. (2009) Prospero-related homeobox protein (Prox1) inhibits hepatitis B virus replication through repressing multiple cis regulatory elements. J. Gen. Virol. 90 1246-55 PubMed GONUTS page
↑ ^4.0 ^4.1 ^4.2 ^4.3 ^4.4 Qin, J et al. (2004) Prospero-related homeobox (Prox1) is a corepressor of human liver receptor homolog-1 and suppresses the transcription of the cholesterol 7-alpha-hydroxylase gene. Mol. Endocrinol. 18 2424-39 PubMed GONUTS page
↑ ^5.0 ^5.1 ^5.2 ^5.3 ^5.4 ^5.5 Solomon, IH et al. (2005) Crystal structure of the human LRH-1 DBD-DNA complex reveals Ftz-F1 domain positioning is required for receptor activity. J. Mol. Biol. 354 1091-102 PubMed GONUTS page
↑ ^6.0 ^6.1 ^6.2 Ortlund, EA et al. (2005) Modulation of human nuclear receptor LRH-1 activity by phospholipids and SHP. Nat. Struct. Mol. Biol. 12 357-63 PubMed GONUTS page
↑ ^7.0 ^7.1 ^7.2 ^7.3 ^7.4 ^7.5 ^7.6 Gaudet, P et al. (2011) Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. Brief. Bioinformatics 12 449-62 PubMed GONUTS page
↑ Li, M et al. (1998) Cloning and characterization of a novel human hepatocyte transcription factor, hB1F, which binds and activates enhancer II of hepatitis B virus. J. Biol. Chem. 273 29022-31 PubMed GONUTS page
↑ Napal, L et al. (2005) An intronic peroxisome proliferator-activated receptor-binding sequence mediates fatty acid induction of the human carnitine palmitoyltransferase 1A. J. Mol. Biol. 354 751-9 PubMed GONUTS page

[PMID:19274049-1] 1.0 ^1.1 Vaquerizas, JM et al. (2009) A census of human transcription factors: function, expression and evolution. Nat. Rev. Genet. 10 252-63 PubMed GONUTS page

[PMID:15143342-2] 2.0 ^2.1 Steffensen, KR et al. (2004) Functional conservation of interactions between a homeodomain cofactor and a mammalian FTZ-F1 homologue. EMBO Rep. 5 613-9 PubMed GONUTS page

[PMID:19264593-3] Qin, J et al. (2009) Prospero-related homeobox protein (Prox1) inhibits hepatitis B virus replication through repressing multiple cis regulatory elements. J. Gen. Virol. 90 1246-55 PubMed GONUTS page

[PMID:15205472-4] 4.0 ^4.1 ^4.2 ^4.3 ^4.4 Qin, J et al. (2004) Prospero-related homeobox (Prox1) is a corepressor of human liver receptor homolog-1 and suppresses the transcription of the cholesterol 7-alpha-hydroxylase gene. Mol. Endocrinol. 18 2424-39 PubMed GONUTS page

[PMID:16289203-5] 5.0 ^5.1 ^5.2 ^5.3 ^5.4 ^5.5 Solomon, IH et al. (2005) Crystal structure of the human LRH-1 DBD-DNA complex reveals Ftz-F1 domain positioning is required for receptor activity. J. Mol. Biol. 354 1091-102 PubMed GONUTS page

[PMID:15723037-6] 6.0 ^6.1 ^6.2 Ortlund, EA et al. (2005) Modulation of human nuclear receptor LRH-1 activity by phospholipids and SHP. Nat. Struct. Mol. Biol. 12 357-63 PubMed GONUTS page

[PMID:21873635-7] 7.0 ^7.1 ^7.2 ^7.3 ^7.4 ^7.5 ^7.6 Gaudet, P et al. (2011) Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. Brief. Bioinformatics 12 449-62 PubMed GONUTS page

[PMID:9786908-8] Li, M et al. (1998) Cloning and characterization of a novel human hepatocyte transcription factor, hB1F, which binds and activates enhancer II of hepatitis B virus. J. Biol. Chem. 273 29022-31 PubMed GONUTS page

[PMID:16271724-9] Napal, L et al. (2005) An intronic peroxisome proliferator-activated receptor-binding sequence mediates fatty acid induction of the human carnitine palmitoyltransferase 1A. J. Mol. Biol. 354 751-9 PubMed GONUTS page

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HUMAN:NR5A2

Contents

Annotations

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References

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