Gene/Proteome Database (LMPD)

LMPD ID
LMP000478
Gene ID
9971
Species
Homo sapiens (Human)
Gene Name
nuclear receptor subfamily 1, group H, member 4
Gene Symbol
NR1H4
Synonyms
BAR; FXR; HRR-1; HRR1; RIP14
Chromosome
12
Map Location
12q23.1
Summary
This gene encodes a ligand-activated transcription factor, which shares structural features in common with nuclear hormone receptor family, such as a DNA-binding domain that targets the receptor to specific DNA sequences, and a ligand-binding domain, which interacts directly with the ligand and contains a ligand-dependent transcriptional activation domain. This protein functions as a receptor for bile acids, and when bound to bile acids, regulates the expression of genes involved in bile acid synthesis and transport. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Aug 2011]
Orthologs
View orthologs and multiple alignments for NR1H4

Proteins

bile acid receptor isoform 1
Refseq ID NP_001193906
Protein GI 332801015
UniProt ID Q96RI1
mRNA ID NM_001206977
Length 476
RefSeq Status REVIEWED
MGSKMNLIEHSHLPTTDEFSFSENLFGVLTEQVAGPLGQNLEVEPYSQYSNVQFPQVQPQISSSSYYSNLGFYPQQPEEWYSPGIYELRRMPAETLYQGETEVAEMPVTKKPRMGASAGRIKGDELCVVCGDRASGYHYNALTCEGCKGFFRRSITKNAVYKCKNGGNCVMDMYMRRKCQECRLRKCKEMGMLAECMYTGLLTEIQCKSKRLRKNVKQHADQTVNEDSEGRDLRQVTSTTKSCREKTELTPDQQTLLHFIMDSYNKQRMPQEITNKILKEEFSAEENFLILTEMATNHVQVLVEFTKKLPGFQTLDHEDQIALLKGSAVEAMFLRSAEIFNKKLPSGHSDLLEERIRNSGISDEYITPMFSFYKSIGELKMTQEEYALLTAIVILSPDRQYIKDREAVEKLQEPLLDVLQKLCKIHQPENPQHFACLLGRLTELRTFNHHHAEMLMSWRVNDHKFTPLLCEIWDVQ
bile acid receptor isoform 1
Refseq ID NP_001193908
Protein GI 332801019
UniProt ID Q96RI1
mRNA ID NM_001206979
Length 476
RefSeq Status REVIEWED
Protein sequence is identical to GI:332801015 (mRNA isoform)
bile acid receptor isoform 2
Refseq ID NP_005114
Protein GI 4826980
UniProt ID Q96RI1
mRNA ID NM_005123
Length 472
RefSeq Status REVIEWED
MGSKMNLIEHSHLPTTDEFSFSENLFGVLTEQVAGPLGQNLEVEPYSQYSNVQFPQVQPQISSSSYYSNLGFYPQQPEEWYSPGIYELRRMPAETLYQGETEVAEMPVTKKPRMGASAGRIKGDELCVVCGDRASGYHYNALTCEGCKGFFRRSITKNAVYKCKNGGNCVMDMYMRRKCQECRLRKCKEMGMLAECLLTEIQCKSKRLRKNVKQHADQTVNEDSEGRDLRQVTSTTKSCREKTELTPDQQTLLHFIMDSYNKQRMPQEITNKILKEEFSAEENFLILTEMATNHVQVLVEFTKKLPGFQTLDHEDQIALLKGSAVEAMFLRSAEIFNKKLPSGHSDLLEERIRNSGISDEYITPMFSFYKSIGELKMTQEEYALLTAIVILSPDRQYIKDREAVEKLQEPLLDVLQKLCKIHQPENPQHFACLLGRLTELRTFNHHHAEMLMSWRVNDHKFTPLLCEIWDVQ
bile acid receptor isoform 3
Refseq ID NP_001193922
Protein GI 332801067
UniProt ID Q96RI1
mRNA ID NM_001206993
Length 486
RefSeq Status REVIEWED
MVMQFQGLENPIQISPHCSCTPSGFFMEMMSMKPAKGVLTEQVAGPLGQNLEVEPYSQYSNVQFPQVQPQISSSSYYSNLGFYPQQPEEWYSPGIYELRRMPAETLYQGETEVAEMPVTKKPRMGASAGRIKGDELCVVCGDRASGYHYNALTCEGCKGFFRRSITKNAVYKCKNGGNCVMDMYMRRKCQECRLRKCKEMGMLAECMYTGLLTEIQCKSKRLRKNVKQHADQTVNEDSEGRDLRQVTSTTKSCREKTELTPDQQTLLHFIMDSYNKQRMPQEITNKILKEEFSAEENFLILTEMATNHVQVLVEFTKKLPGFQTLDHEDQIALLKGSAVEAMFLRSAEIFNKKLPSGHSDLLEERIRNSGISDEYITPMFSFYKSIGELKMTQEEYALLTAIVILSPDRQYIKDREAVEKLQEPLLDVLQKLCKIHQPENPQHFACLLGRLTELRTFNHHHAEMLMSWRVNDHKFTPLLCEIWDVQ
bile acid receptor isoform 4
Refseq ID NP_001193921
Protein GI 332801065
UniProt ID Q96RI1
mRNA ID NM_001206992
Length 482
RefSeq Status REVIEWED
MVMQFQGLENPIQISPHCSCTPSGFFMEMMSMKPAKGVLTEQVAGPLGQNLEVEPYSQYSNVQFPQVQPQISSSSYYSNLGFYPQQPEEWYSPGIYELRRMPAETLYQGETEVAEMPVTKKPRMGASAGRIKGDELCVVCGDRASGYHYNALTCEGCKGFFRRSITKNAVYKCKNGGNCVMDMYMRRKCQECRLRKCKEMGMLAECLLTEIQCKSKRLRKNVKQHADQTVNEDSEGRDLRQVTSTTKSCREKTELTPDQQTLLHFIMDSYNKQRMPQEITNKILKEEFSAEENFLILTEMATNHVQVLVEFTKKLPGFQTLDHEDQIALLKGSAVEAMFLRSAEIFNKKLPSGHSDLLEERIRNSGISDEYITPMFSFYKSIGELKMTQEEYALLTAIVILSPDRQYIKDREAVEKLQEPLLDVLQKLCKIHQPENPQHFACLLGRLTELRTFNHHHAEMLMSWRVNDHKFTPLLCEIWDVQ
bile acid receptor isoform 5
Refseq ID NP_001193907
Protein GI 332801015
UniProt ID Q96RI1
mRNA ID NM_001206978
Length 476
RefSeq Status REVIEWED
MGSKMNLIEHSHLPTTDEFSFSENLFGVLTEQVAGPLGQNLEVEPYSQYSNVQFPQVQPQISSSSYYSNLGFYPQQPEEWYSPGIYELRRMPAETLYQGETEVAEMPVTKKPRMGASAGRIKGDELCVVCGDRASGYHYNALTCEGCKGFFRRSITKNAVYKCKNGGNCVMDMYMRRKCQECRLRKCKEMGMLAECMYTGLLTEIQCKSKRLRKNVKQHADQTVNEDSEGRDLRQVTSTTKSCREKTELTPDQQTLLHFIMDSYNKQRMPQEITNKILKEEFSAEENFLILTEMATNHVQVLVEFTKKLPGFQTLDHEDQIALLKGSAVEAMFLRSAEIFNKKLPSGHSDLLEERIRNSGISDEYITPMFSFYKSIGELKMTQEEYALLTAIVILSPDRQYIKDREAVEKLQEPLLDVLQKLCKIHQPENPQHFACLLGRLTELRTFNHHHAEMLMSWRVNDHKFTPLLCEIWDVQ

Gene Information

Entrez Gene ID
9971
Gene Name
nuclear receptor subfamily 1, group H, member 4
Gene Symbol
NR1H4
Species
Homo sapiens

Gene Ontology (GO Annotations)

GO ID Source Type Description
GO:0005719 IDA:BHF-UCL C nuclear euchromatin
GO:0005654 TAS:Reactome C nucleoplasm
GO:0000980 IDA:BHF-UCL F RNA polymerase II distal enhancer sequence-specific DNA binding
GO:0003705 IDA:BHF-UCL F RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity
GO:0001190 IDA:BHF-UCL F RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription
GO:0032052 ISS:BHF-UCL F bile acid binding
GO:0038181 IDA:UniProtKB F bile acid receptor activity
GO:1902122 IDA:UniProtKB F chenodeoxycholic acid binding
GO:0004879 ISS:BHF-UCL F ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity
GO:0016922 TAS:BHF-UCL F ligand-dependent nuclear receptor binding
GO:0042277 IEA:Ensembl F peptide binding
GO:0043565 IDA:UniProtKB F sequence-specific DNA binding
GO:0003700 TAS:ProtInc F sequence-specific DNA binding transcription factor activity
GO:0003707 IEA:Ensembl F steroid hormone receptor activity
GO:0004887 IEA:InterPro F thyroid hormone receptor activity
GO:0003713 TAS:ProtInc F transcription coactivator activity
GO:0003714 TAS:ProtInc F transcription corepressor activity
GO:0008270 IEA:InterPro F zinc ion binding
GO:0008206 IEA:Ensembl P bile acid metabolic process
GO:0071229 IDA:BHF-UCL P cellular response to acid chemical
GO:0071417 ISS:BHF-UCL P cellular response to organonitrogen compound
GO:0048565 IEA:Ensembl P digestive tract development
GO:0010467 TAS:Reactome P gene expression
GO:0038185 IDA:UniProtKB P intracellular bile acid receptor signaling pathway
GO:0030522 ISS:BHF-UCL P intracellular receptor signaling pathway
GO:0070858 IDA:UniProtKB P negative regulation of bile acid biosynthetic process
GO:0000122 ISS:BHF-UCL P negative regulation of transcription from RNA polymerase II promoter
GO:0001080 IC:BHF-UCL P nitrogen catabolite activation of transcription from RNA polymerase II promoter
GO:2001250 IEA:Ensembl P positive regulation of ammonia assimilation cycle
GO:2000213 ISS:BHF-UCL P positive regulation of glutamate metabolic process
GO:0045944 IMP:BHF-UCL P positive regulation of transcription from RNA polymerase II promoter
GO:0070857 TAS:BHF-UCL P regulation of bile acid biosynthetic process
GO:0006109 IEA:Ensembl P regulation of carbohydrate metabolic process
GO:0090181 TAS:BHF-UCL P regulation of cholesterol metabolic process
GO:0034255 ISS:BHF-UCL P regulation of urea metabolic process
GO:0009749 IEA:Ensembl P response to glucose
GO:0032496 IEA:Ensembl P response to lipopolysaccharide
GO:0007165 TAS:ProtInc P signal transduction
GO:0006367 TAS:Reactome P transcription initiation from RNA polymerase II promoter

KEGG Pathway Links

KEGG Pathway ID Description
hsa04976 Bile secretion

REACTOME Pathway Links

REACTOME Pathway ID Description
REACT_116145 PPARA activates gene expression

Domain Information

InterPro Annotations

Accession Description
IPR008946 Nuclear hormone receptor, ligand-binding
IPR000536 Nuclear hormone receptor, ligand-binding, core
IPR001723 Steroid hormone receptor
IPR001728 Thyroid hormone receptor
IPR013088 Zinc finger, NHR/GATA-type
IPR001628 Zinc finger, nuclear hormone receptor-type

UniProt Annotations

Entry Information

Gene Name
nuclear receptor subfamily 1, group H, member 4
Protein Entry
NR1H4_HUMAN
UniProt ID
Q96RI1
Species
Human

Comments

Comment Type Description
Alternative Products Event=Alternative splicing; Named isoforms=5; Name=1; IsoId=Q96RI1-3; Sequence=Displayed; Name=2; IsoId=Q96RI1-4; Sequence=VSP_003665; Name=3; IsoId=Q96RI1-1; Sequence=VSP_010135; Name=4; IsoId=Q96RI1-2; Sequence=VSP_010135, VSP_003665; Name=5; IsoId=Q96RI1-5; Sequence=VSP_010135, VSP_044547; Note=No experimental confirmation available.;
Function Ligand-activated transcription factor. Receptor for bile acids such as chenodeoxycholic acid, lithocholic acid and deoxycholic acid. Represses the transcription of the cholesterol 7-alpha-hydroxylase gene (CYP7A1) through the induction of NR0B2 or FGF19 expression, via two distinct mechanisms. Activates the intestinal bile acid-binding protein (IBABP). Activates the transcription of bile salt export pump ABCB11 by directly recruiting histone methyltransferase CARM1 to this locus. {ECO
Ptm Methylation may increase transactivation of target genes.
Sequence Caution Sequence=BC144183; Type=Frameshift; Positions=156; Evidence= ;
Similarity Belongs to the nuclear hormone receptor family. NR1 subfamily.
Similarity Contains 1 nuclear receptor DNA-binding domain.
Subcellular Location Nucleus .
Subunit Heterodimer of NR1H4 and RXR. After activation by agonist binding, interacts with a coactivator, NCOA1 or NCOA2 (By similarity). Interacts with CARM1 and SMARD1. {ECO
Web Resource Name=Wikipedia; Note=Farnesoid X receptor entry; URL="http://en.wikipedia.org/wiki/Farnesoid_X_receptor";

Identical and Related Proteins

Unique RefSeq proteins for LMP000478 (as displayed in Record Overview)

Protein GI Database Accession Length Protein Name
332801015 RefSeq NP_001193906 476 bile acid receptor isoform 1
4826980 RefSeq NP_005114 472 bile acid receptor isoform 2
332801067 RefSeq NP_001193922 486 bile acid receptor isoform 3
332801065 RefSeq NP_001193921 482 bile acid receptor isoform 4
332801015 RefSeq NP_001193907 476 bile acid receptor isoform 5

Identical Sequences to LMP000478 proteins

Reference Database Accession Length Protein Name
GI:332801065 DBBJ BAG73456.1 482 nuclear receptor subfamily 1, group H, member 4, partial [synthetic construct]
GI:332801067 DBBJ BAH12398.1 486 unnamed protein product [Homo sapiens]
GI:332801065 GenBank AAM53550.1 482 farnesoid-X-receptor beta splice variant 1 [Homo sapiens]
GI:332801067 GenBank AAM53551.1 486 farnesoid-X-receptor beta splice variant 2 [Homo sapiens]
GI:4826980 GenBank ACN04136.1 472 Sequence 16 from patent US 7482366
GI:332801015 GenBank ADC25376.1 476 Sequence 1 from patent US 7647217
GI:332801015 GenBank ADC25376.1 476 Sequence 1 from patent US 7647217
GI:4826980 GenBank ADC25377.1 472 Sequence 2 from patent US 7647217
GI:332801015 GenBank ADR83011.1 476 Unknown protein, partial [synthetic construct]
GI:332801015 GenBank ADR83011.1 476 Unknown protein, partial [synthetic construct]
GI:332801015 GenBank ADZ17382.1 476 farnesoid X nuclear receptor [Homo sapiens]
GI:332801015 GenBank ADZ17382.1 476 farnesoid X nuclear receptor [Homo sapiens]
GI:4826980 GenBank AEN39527.1 472 Sequence 8 from patent US 7998986
GI:4826980 GenBank AEP73960.1 472 Sequence 16 from patent US 8013001
GI:332801015 GenBank AFO16065.1 476 Sequence 1 from patent US 8212006
GI:332801015 GenBank AFO16065.1 476 Sequence 1 from patent US 8212006
GI:4826980 GenBank AFO16066.1 472 Sequence 2 from patent US 8212006
GI:4826980 GenBank AHD69578.1 472 Sequence 592 from patent US 8586006
GI:332801015 GenBank AIC59569.1 476 NR1H4, partial [synthetic construct]
GI:332801015 GenBank AIC59569.1 476 NR1H4, partial [synthetic construct]
GI:332801015 RefSeq NP_001193908.1 476 bile acid receptor isoform 1 [Homo sapiens]
GI:332801015 RefSeq NP_001193908.1 476 bile acid receptor isoform 1 [Homo sapiens]
GI:332801067 SwissProt Q96RI1.2 486 RecName: Full=Bile acid receptor; AltName: Full=Farnesoid X-activated receptor; AltName: Full=Farnesol receptor HRR-1; AltName: Full=Nuclear receptor subfamily 1 group H member 4; AltName: Full=Retinoid X receptor-interacting protein 14; Short=RXR-interacting protein 14 [Homo sapiens]

Related Sequences to LMP000478 proteins

Reference Database Accession Length Protein Name
GI:4826980 DBBJ BAG35798.1 472 unnamed protein product [Homo sapiens]
GI:332801067 DBBJ BAG73456.1 482 nuclear receptor subfamily 1, group H, member 4, partial [synthetic construct]
GI:332801065 EMBL CAE11874.2 482 hypothetical protein [Homo sapiens]
GI:332801067 GenBank AAM53550.1 482 farnesoid-X-receptor beta splice variant 1 [Homo sapiens]
GI:332801065 GenBank AAM53551.1 486 farnesoid-X-receptor beta splice variant 2 [Homo sapiens]
GI:332801015 GenBank AAI44185.1 476 NR1H4 protein [Homo sapiens]
GI:332801015 GenBank AAI44185.1 476 NR1H4 protein [Homo sapiens]
GI:4826980 GenBank ACM81834.1 475 Sequence 7332 from patent US 6812339
GI:4826980 GenBank AFO16065.1 476 Sequence 1 from patent US 8212006
GI:332801065 RefSeq XP_509299.2 482 PREDICTED: bile acid receptor isoform X2 [Pan troglodytes]
GI:332801065 RefSeq XP_003269953.1 482 PREDICTED: bile acid receptor isoform 1 [Nomascus leucogenys]
GI:332801067 RefSeq NP_001193921.1 482 bile acid receptor isoform 4 [Homo sapiens]
GI:332801065 RefSeq XP_003832648.1 482 PREDICTED: bile acid receptor isoform X2 [Pan paniscus]
GI:4826980 RefSeq XP_003952320.1 472 PREDICTED: bile acid receptor isoform X4 [Pan troglodytes]
GI:332801015 RefSeq XP_004053791.1 476 PREDICTED: bile acid receptor isoform 1 [Gorilla gorilla gorilla]
GI:332801015 RefSeq XP_004053791.1 476 PREDICTED: bile acid receptor isoform 1 [Gorilla gorilla gorilla]
GI:332801065 RefSeq XP_004053792.1 482 PREDICTED: bile acid receptor isoform 2 [Gorilla gorilla gorilla]
GI:4826980 RefSeq XP_004089467.1 472 PREDICTED: bile acid receptor isoform 2 [Nomascus leucogenys]
GI:332801015 RefSeq XP_004089469.1 476 PREDICTED: bile acid receptor isoform 4 [Nomascus leucogenys]
GI:332801015 RefSeq XP_004089469.1 476 PREDICTED: bile acid receptor isoform 4 [Nomascus leucogenys]
GI:332801067 RefSeq XP_008956281.1 486 PREDICTED: bile acid receptor isoform X1 [Pan paniscus]
GI:332801015 RefSeq XP_008956282.1 476 PREDICTED: bile acid receptor isoform X3 [Pan paniscus]
GI:332801015 RefSeq XP_008956282.1 476 PREDICTED: bile acid receptor isoform X3 [Pan paniscus]
GI:4826980 RefSeq XP_008956283.1 472 PREDICTED: bile acid receptor isoform X4 [Pan paniscus]
GI:332801067 RefSeq XP_009424362.1 486 PREDICTED: bile acid receptor isoform X1 [Pan troglodytes]
GI:332801015 RefSeq XP_009424363.1 476 PREDICTED: bile acid receptor isoform X3 [Pan troglodytes]
GI:332801015 RefSeq XP_009424363.1 476 PREDICTED: bile acid receptor isoform X3 [Pan troglodytes]
GI:332801015 RefSeq XP_009424364.1 476 PREDICTED: bile acid receptor isoform X3 [Pan troglodytes]
GI:332801015 RefSeq XP_009424364.1 476 PREDICTED: bile acid receptor isoform X3 [Pan troglodytes]
GI:332801067 RefSeq XP_010381875.1 486 PREDICTED: bile acid receptor isoform X1 [Rhinopithecus roxellana]