Gene/Proteome Database (LMPD)

LMPD ID
LMP002951
Gene ID
2494
Species
Homo sapiens (Human)
Gene Name
nuclear receptor subfamily 5, group A, member 2
Gene Symbol
NR5A2
Synonyms
B1F; B1F2; CPF; FTF; FTZ-F1; FTZ-F1beta; LRH-1; LRH1; hB1F-2
Chromosome
1
Map Location
1q32.1

Proteins

nuclear receptor subfamily 5 group A member 2 isoform 1
Refseq ID NP_995582
Protein GI 45545405
UniProt ID O00482
mRNA ID NM_205860
Length 541
RefSeq Status VALIDATED
MSSNSDTGDLQESLKHGLTPIGAGLPDRHGSPIPARGRLVMLPKVETEALGLARSHGEQGQMPENMQVSQFKMVNYSYDEDLEELCPVCGDKVSGYHYGLLTCESCKGFFKRTVQNNKRYTCIENQNCQIDKTQRKRCPYCRFQKCLSVGMKLEAVRADRMRGGRNKFGPMYKRDRALKQQKKALIRANGLKLEAMSQVIQAMPSDLTISSAIQNIHSASKGLPLNHAALPPTDYDRSPFVTSPISMTMPPHGSLQGYQTYGHFPSRAIKSEYPDPYTSSPESIMGYSYMDSYQTSSPASIPHLILELLKCEPDEPQVQAKIMAYLQQEQANRSKHEKLSTFGLMCKMADQTLFSIVEWARSSIFFRELKVDDQMKLLQNCWSELLILDHIYRQVVHGKEGSIFLVTGQQVDYSIIASQAGATLNNLMSHAQELVAKLRSLQFDQREFVCLKFLVLFSLDVKNLENFQLVEGVQEQVNAALLDYTMCNYPQQTEKFGQLLLRLPEIRAISMQAEEYLYYKHLNGDVPYNNLLIEMLHAKRA
nuclear receptor subfamily 5 group A member 2 isoform 2
Refseq ID NP_003813
Protein GI 4504343
UniProt ID O00482
mRNA ID NM_003822
Length 495
RefSeq Status VALIDATED
MSSNSDTGDLQESLKHGLTPIVSQFKMVNYSYDEDLEELCPVCGDKVSGYHYGLLTCESCKGFFKRTVQNNKRYTCIENQNCQIDKTQRKRCPYCRFQKCLSVGMKLEAVRADRMRGGRNKFGPMYKRDRALKQQKKALIRANGLKLEAMSQVIQAMPSDLTISSAIQNIHSASKGLPLNHAALPPTDYDRSPFVTSPISMTMPPHGSLQGYQTYGHFPSRAIKSEYPDPYTSSPESIMGYSYMDSYQTSSPASIPHLILELLKCEPDEPQVQAKIMAYLQQEQANRSKHEKLSTFGLMCKMADQTLFSIVEWARSSIFFRELKVDDQMKLLQNCWSELLILDHIYRQVVHGKEGSIFLVTGQQVDYSIIASQAGATLNNLMSHAQELVAKLRSLQFDQREFVCLKFLVLFSLDVKNLENFQLVEGVQEQVNAALLDYTMCNYPQQTEKFGQLLLRLPEIRAISMQAEEYLYYKHLNGDVPYNNLLIEMLHAKRA
nuclear receptor subfamily 5 group A member 2 isoform 3
Refseq ID NP_001263393
Protein GI 451172094
UniProt ID O00482
mRNA ID NM_001276464
Length 469
RefSeq Status VALIDATED
MVNYSYDEDLEELCPVCGDKVSGYHYGLLTCESCKGFFKRTVQNNKRYTCIENQNCQIDKTQRKRCPYCRFQKCLSVGMKLEAVRADRMRGGRNKFGPMYKRDRALKQQKKALIRANGLKLEAMSQVIQAMPSDLTISSAIQNIHSASKGLPLNHAALPPTDYDRSPFVTSPISMTMPPHGSLQGYQTYGHFPSRAIKSEYPDPYTSSPESIMGYSYMDSYQTSSPASIPHLILELLKCEPDEPQVQAKIMAYLQQEQANRSKHEKLSTFGLMCKMADQTLFSIVEWARSSIFFRELKVDDQMKLLQNCWSELLILDHIYRQVVHGKEGSIFLVTGQQVDYSIIASQAGATLNNLMSHAQELVAKLRSLQFDQREFVCLKFLVLFSLDVKNLENFQLVEGVQEQVNAALLDYTMCNYPQQTEKFGQLLLRLPEIRAISMQAEEYLYYKHLNGDVPYNNLLIEMLHAKRA

Gene Information

Entrez Gene ID
2494
Gene Name
nuclear receptor subfamily 5, group A, member 2
Gene Symbol
NR5A2
Species
Homo sapiens

Gene Ontology (GO Annotations)

GO ID Source Type Description
GO:0005737 IDA:BHF-UCL C cytoplasm
GO:0005654 TAS:Reactome C nucleoplasm
GO:0005634 IDA:BHF-UCL C nucleus
GO:0003677 IDA:UniProtKB F DNA binding
GO:0000978 IEA:Ensembl F RNA polymerase II core promoter proximal region sequence-specific DNA binding
GO:0001077 IEA:Ensembl F RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription
GO:0003705 TAS:ProtInc F RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity
GO:0004879 TAS:UniProtKB F ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity
GO:0005543 IDA:UniProtKB F phospholipid binding
GO:0043565 IDA:UniProtKB F sequence-specific DNA binding
GO:0003700 IDA:UniProtKB F sequence-specific DNA binding transcription factor activity
GO:0003707 IEA:InterPro F steroid hormone receptor activity
GO:0044212 IDA:BHF-UCL F transcription regulatory region DNA binding
GO:0008270 IEA:InterPro F zinc ion binding
GO:0008206 IEA:Ensembl P bile acid metabolic process
GO:0042632 IEA:Ensembl P cholesterol homeostasis
GO:0009790 TAS:UniProtKB P embryo development
GO:0031018 TAS:Reactome P endocrine pancreas development
GO:0010467 TAS:Reactome P gene expression
GO:0042592 NAS:UniProtKB P homeostatic process
GO:0030522 TAS:GOC P intracellular receptor signaling pathway
GO:0045893 IDA:BHF-UCL P positive regulation of transcription, DNA-templated
GO:0045070 IDA:BHF-UCL P positive regulation of viral genome replication
GO:0042127 IEA:Ensembl P regulation of cell proliferation
GO:0006355 IDA:UniProtKB P regulation of transcription, DNA-templated
GO:0006367 TAS:Reactome P transcription initiation from RNA polymerase II promoter

KEGG Pathway Links

KEGG Pathway ID Description
hsa04950 Maturity onset diabetes of the young

REACTOME Pathway Links

REACTOME Pathway ID Description
REACT_13698 Regulation of beta-cell development
REACT_13778 Regulation of gene expression in early pancreatic precursor cells

Domain Information

InterPro Annotations

Accession Description
IPR008946 Nuclear hormone receptor, ligand-binding
IPR000536 Nuclear hormone receptor, ligand-binding, core
IPR001723 Steroid hormone receptor
IPR016355 Steroidogenic_factor_1
IPR013088 Zinc finger, NHR/GATA-type
IPR001628 Zinc finger, nuclear hormone receptor-type

UniProt Annotations

Entry Information

Gene Name
nuclear receptor subfamily 5, group A, member 2
Protein Entry
NR5A2_HUMAN
UniProt ID
O00482
Species
Human

Comments

Comment Type Description
Alternative Products Event=Alternative splicing; Named isoforms=4; Name=2; Synonyms=B1F2; IsoId=O00482-1; Sequence=Displayed; Name=1; IsoId=O00482-2; Sequence=VSP_003716; Name=3; IsoId=O00482-3; Sequence=VSP_003717; Note=Does not induce CYP7A promoter activity.; Name=4; IsoId=O00482-4; Sequence=VSP_054548; Note=No experimental confirmation available.;
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.
Interaction O60869:EDF1; NbExp=2; IntAct=EBI-781320, EBI-781301; Q92786:PROX1; NbExp=9; IntAct=EBI-9257474, EBI-3912635;
Similarity Belongs to the nuclear hormone receptor family. NR5 subfamily.
Similarity Contains 1 nuclear receptor DNA-binding domain.
Subcellular Location Nucleus .
Subunit Binds DNA as a monomer (By similarity). Interacts with GRIP1, NCOA2 and NR0B2. {ECO
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.

Identical and Related Proteins

Unique RefSeq proteins for LMP002951 (as displayed in Record Overview)

Protein GI Database Accession Length Protein Name
45545405 RefSeq NP_995582 541 nuclear receptor subfamily 5 group A member 2 isoform 1
4504343 RefSeq NP_003813 495 nuclear receptor subfamily 5 group A member 2 isoform 2
451172094 RefSeq NP_001263393 469 nuclear receptor subfamily 5 group A member 2 isoform 3

Identical Sequences to LMP002951 proteins

Reference Database Accession Length Protein Name
GI:45545405 GenBank AAE82738.1 541 Sequence 6 from patent US 6297019
GI:45545405 GenBank EAW91308.1 541 nuclear receptor subfamily 5, group A, member 2, isoform CRA_d [Homo sapiens]
GI:4504343 GenBank AHD75911.1 495 Sequence 18294 from patent US 8586006
GI:45545405 GenBank AHD75912.1 541 Sequence 18295 from patent US 8586006
GI:4504343 GenBank AIC48789.1 495 NR5A2, partial [synthetic construct]
GI:45545405 RefSeq XP_001142695.1 541 PREDICTED: nuclear receptor subfamily 5 group A member 2 isoform X1 [Pan troglodytes]
GI:45545405 RefSeq XP_003823109.1 541 PREDICTED: nuclear receptor subfamily 5 group A member 2 isoform X3 [Pan paniscus]
GI:4504343 RefSeq XP_003823110.1 495 PREDICTED: nuclear receptor subfamily 5 group A member 2 isoform X1 [Pan paniscus]
GI:4504343 RefSeq XP_003893394.1 495 PREDICTED: nuclear receptor subfamily 5 group A member 2 isoform X4 [Papio anubis]
GI:45545405 RefSeq XP_004028157.1 541 PREDICTED: nuclear receptor subfamily 5 group A member 2 isoform 1 [Gorilla gorilla gorilla]
GI:4504343 RefSeq XP_004028158.1 495 PREDICTED: nuclear receptor subfamily 5 group A member 2 isoform 2 [Gorilla gorilla gorilla]
GI:4504343 RefSeq XP_005540393.1 495 PREDICTED: nuclear receptor subfamily 5 group A member 2-like isoform X2 [Macaca fascicularis]
GI:451172094 RefSeq XP_009188904.1 469 PREDICTED: nuclear receptor subfamily 5 group A member 2 isoform X5 [Papio anubis]
GI:451172094 RefSeq XP_009188920.1 469 PREDICTED: nuclear receptor subfamily 5 group A member 2 isoform X5 [Papio anubis]
GI:451172094 RefSeq XP_009438685.1 469 PREDICTED: nuclear receptor subfamily 5 group A member 2 isoform X5 [Pan troglodytes]
GI:451172094 RefSeq XP_009438689.1 469 PREDICTED: nuclear receptor subfamily 5 group A member 2 isoform X5 [Pan troglodytes]
GI:451172094 RefSeq XP_009438693.1 469 PREDICTED: nuclear receptor subfamily 5 group A member 2 isoform X5 [Pan troglodytes]
GI:451172094 RefSeq XP_009438697.1 469 PREDICTED: nuclear receptor subfamily 5 group A member 2 isoform X5 [Pan troglodytes]

Related Sequences to LMP002951 proteins

Reference Database Accession Length Protein Name
GI:45545405 DBBJ BAA34092.1 541 FTZ-F1 related protein [Homo sapiens]
GI:451172094 GenBank AAD26565.1 541 hepatocytic transcription factor hB1F-2 [Homo sapiens]
GI:451172094 GenBank EAW91308.1 541 nuclear receptor subfamily 5, group A, member 2, isoform CRA_d [Homo sapiens]
GI:4504343 GenBank ACM81569.1 505 Sequence 7067 from patent US 6812339
GI:451172094 RefSeq NP_995582.1 541 nuclear receptor subfamily 5 group A member 2 isoform 1 [Homo sapiens]
GI:45545405 RefSeq XP_001110281.1 541 PREDICTED: nuclear receptor subfamily 5 group A member 2-like isoform 3 [Macaca mulatta]
GI:4504343 RefSeq XP_001110202.1 495 PREDICTED: nuclear receptor subfamily 5 group A member 2-like isoform 2 [Macaca mulatta]
GI:451172094 RefSeq XP_001142695.1 541 PREDICTED: nuclear receptor subfamily 5 group A member 2 isoform X1 [Pan troglodytes]
GI:4504343 RefSeq XP_002760663.1 495 PREDICTED: nuclear receptor subfamily 5 group A member 2 isoform X2 [Callithrix jacchus]
GI:45545405 RefSeq XP_003264567.1 541 PREDICTED: LOW QUALITY PROTEIN: nuclear receptor subfamily 5 group A member 2 [Nomascus leucogenys]
GI:4504343 RefSeq XP_003792352.1 495 PREDICTED: nuclear receptor subfamily 5 group A member 2 isoform 2 [Otolemur garnettii]
GI:45545405 RefSeq XP_003893393.1 541 PREDICTED: nuclear receptor subfamily 5 group A member 2 isoform X1 [Papio anubis]
GI:4504343 RefSeq XP_003938293.1 495 PREDICTED: nuclear receptor subfamily 5 group A member 2 isoform X2 [Saimiri boliviensis boliviensis]
GI:451172094 RefSeq XP_004028157.1 541 PREDICTED: nuclear receptor subfamily 5 group A member 2 isoform 1 [Gorilla gorilla gorilla]
GI:4504343 RefSeq XP_004439034.1 495 PREDICTED: nuclear receptor subfamily 5 group A member 2 isoform 2 [Ceratotherium simum simum]
GI:45545405 RefSeq XP_005540392.1 541 PREDICTED: nuclear receptor subfamily 5 group A member 2-like isoform X1 [Macaca fascicularis]
GI:45545405 RefSeq XP_007987223.1 541 PREDICTED: nuclear receptor subfamily 5 group A member 2 isoform X1 [Chlorocebus sabaeus]
GI:451172094 SwissProt O00482.2 541 RecName: Full=Nuclear receptor subfamily 5 group A member 2; AltName: Full=Alpha-1-fetoprotein transcription factor; AltName: Full=B1-binding factor; Short=hB1F; AltName: Full=CYP7A promoter-binding factor; AltName: Full=Hepatocytic transcription factor; AltName: Full=Liver receptor homolog 1; Short=LRH-1 [Homo sapiens]