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The protein encoded by this gene belongs to the NR1 subfamily of the nuclear receptor superfamily. The NR1 family members are key regulators of macrophage function, controlling transcriptional programs involved in lipid homeostasis and inflammation. This protein is highly expressed in visceral organs, including liver, kidney and intestine. It forms a heterodimer with retinoid X receptor (RXR), and regulates expression of target genes containing retinoid response elements. Studies in mice lacking this gene suggest that it may play an important role in the regulation of cholesterol homeostasis. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011]
NR1H3 (Nuclear Receptor Subfamily 1 Group H Member 3) is a Protein Coding gene. Diseases associated with NR1H3 include Multiple Sclerosis and Cerebrotendinous Xanthomatosis. Among its related pathways are Nuclear Receptor transcription pathway and PPAR Alpha Pathway. Gene Ontology (GO) annotations related to this gene include DNA-binding transcription factor activity and transcription coactivator activity. An important paralog of this gene is NR1H2.
Liver X receptors (LXRs) and farnesoid X receptors (FXRs) are members of the steroid analog-activated nuclear receptor subfamily, which form heterodimers with members of the retinoid X receptor family. There are two closely related isoforms of each of these enzymes; alpha and beta.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000976 | contributes_to transcription regulatory region sequence-specific DNA binding | IDA | 18511497 |
GO:0000978 | RNA polymerase II proximal promoter sequence-specific DNA binding | IBA | 21873635 |
GO:0000981 | DNA-binding transcription factor activity, RNA polymerase II-specific | ISA | -- |
GO:0001228 | DNA-binding transcription activator activity, RNA polymerase II-specific | IEA | -- |
GO:0003677 | DNA binding | IEA,TAS | 7744246 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000785 | chromatin | IDA,ISA | -- |
GO:0005634 | nucleus | IEA,IDA | 25661920 |
GO:0005654 | nucleoplasm | IDA,TAS | -- |
GO:0005737 | cytoplasm | ISS | -- |
GO:0005829 | cytosol | IDA | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Lipoprotein metabolism | ||
2 | Gene Expression |
.48
|
|
3 | Metabolism |
.40
|
|
4 | Nuclear Receptor transcription pathway | ||
5 | Angiopoietin Like Protein 8 Regulatory Pathway |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000122 | negative regulation of transcription by RNA polymerase II | ISS | -- |
GO:0006355 | regulation of transcription, DNA-templated | IEA | -- |
GO:0006367 | transcription initiation from RNA polymerase II promoter | TAS | -- |
GO:0006629 | lipid metabolic process | IEA | -- |
GO:0010745 | negative regulation of macrophage derived foam cell differentiation | IC | 17693624 |
Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
---|---|---|---|---|---|---|
Diacerein | Approved, Investigational | Pharma | Target, inhibitor | 0 | ||
Atenolol | Approved | Pharma | 116 | |||
Verapamil | Approved | Pharma | 143 | |||
(2E,4E)-11-METHOXY-3,7,11-TRIMETHYLDODECA-2,4-DIENOIC ACID | Experimental | Pharma | Target | 0 | ||
1-BENZYL-3-(4-METHOXYPHENYLAMINO)-4-PHENYLPYRROLE-2,5-DIONE | Experimental | Pharma | Target | 0 |
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
---|---|---|---|---|---|---|
GW 4064 |
|
278779-30-9 |
|
|
Compound | Action | Cas Number |
---|---|---|
27-Hydroxycholesterol | LXR agonist; also ER partial agonist | 20380-11-4 |
GW 4064 | Selective farnesoid X receptor (FXR) agonist | 278779-30-9 |
T 0901317 | Potent liver X receptor (LXR) agonist; also CAR inverse agonist | 293754-55-9 |
Compound | Action | Cas Number |
---|---|---|
Fexaramine | 574013-66-4 | |
GW3965 | HLXRα/hLXRβ agonist,potent and selective | 405911-09-3 |
GW3965 HCl | 405911-17-3 | |
LXR-623 | Liver X-receptor agonist | 875787-07-8 |
SR-9243 | inverse agonist of LXR | 1613028-81-1 |
T0901317 | Liver X receptor agonist,potent and selective | 293754-55-9 |
ExUns: | 1a | · | 1b | ^ | 2a | · | 2b | ^ | 3a | · | 3b | · | 3c | · | 3d | · | 3e | · | 3f | · | 3g | · | 3h | · | 3i | · | 3j | ^ | 4a | · | 4b | ^ | 5a | · | 5b | · | 5c | ^ | 6a | · | 6b | ^ | 7a | · | 7b | ^ | 8 | ^ | 9a | · | 9b | · |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||||
SP2: | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||
SP3: | - | - | - | - | - | - | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||
SP4: | - | - | - | - | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||
SP5: | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||
SP6: | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||
SP7: | - | - | - | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||
SP8: | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||
SP9: | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||
SP10: | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||
SP11: | - | - | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||
SP12: | - | |||||||||||||||||||||||||||||||||||||||||||||||||||
SP13: | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||||
SP14: | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||
SP15: | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||
SP16: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP17: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP18: | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||
SP19: | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||||
SP20: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP21: |
ExUns: | 9c | · | 9d | · | 9e | · | 9f | ^ | 10a | · | 10b | · | 10c | · | 10d | · | 10e | · | 10f | ^ | 11 | ^ | 12a | · | 12b | ^ | 13 | ^ | 14 | ^ | 15a | · | 15b |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | ||||||||||||||||||||||||||||||||
SP2: | - | - | |||||||||||||||||||||||||||||||
SP3: | |||||||||||||||||||||||||||||||||
SP4: | |||||||||||||||||||||||||||||||||
SP5: | |||||||||||||||||||||||||||||||||
SP6: | |||||||||||||||||||||||||||||||||
SP7: | |||||||||||||||||||||||||||||||||
SP8: | |||||||||||||||||||||||||||||||||
SP9: | |||||||||||||||||||||||||||||||||
SP10: | |||||||||||||||||||||||||||||||||
SP11: | - | - | - | - | |||||||||||||||||||||||||||||
SP12: | |||||||||||||||||||||||||||||||||
SP13: | |||||||||||||||||||||||||||||||||
SP14: | |||||||||||||||||||||||||||||||||
SP15: | |||||||||||||||||||||||||||||||||
SP16: | |||||||||||||||||||||||||||||||||
SP17: | |||||||||||||||||||||||||||||||||
SP18: | |||||||||||||||||||||||||||||||||
SP19: | |||||||||||||||||||||||||||||||||
SP20: | |||||||||||||||||||||||||||||||||
SP21: |
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | NR1H3 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | NR1H3 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | NR1H3 30 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Nr1h3 30 |
|
||
Mouse (Mus musculus) |
Mammalia | Nr1h3 30 17 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | NR1H3 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | NR1H3 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | LXR 31 |
|
OneToOne | |
NR1H3 30 |
|
||||
Lizard (Anolis carolinensis) |
Reptilia | NR1H3 31 |
|
OneToOne | |
Zebrafish (Danio rerio) |
Actinopterygii | nr1h3 30 31 |
|
OneToOne | |
Fruit Fly (Drosophila melanogaster) |
Insecta | EcR 31 32 |
|
OneToMany | |
Sea Vase (Ciona intestinalis) |
Ascidiacea | Cin.5106 30 |
|
SNP ID | Clinical significance and condition | Chr 11 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
rs2167079 | Benign: not provided | 47,248,704(+) |
C/T NM_001610.4(ACP2):c.86G>A (p.Arg29Gln) |
MISSENSE_VARIANT,FIVE_PRIME_UTR | |
rs34974176 | Likely Benign: not provided | 47,260,509(+) |
T/C NM_005693.4(NR1H3):c.333T>C (p.Asn111=) |
SYNONYMOUS | |
rs41275182 | Likely Benign: not provided | 47,248,762(+) |
G/A NM_001610.4(ACP2):c.28C>T (p.Arg10Trp) |
MISSENSE_VARIANT,FIVE_PRIME_UTR | |
rs41481445 | Benign: not provided. - | 47,259,902(+) |
G/Tp.Gly52Val NM_005693.4(NR1H3):c.155G>T (p.Gly52Val) |
MISSENSE | |
rs61731956 | Pathogenic: Multiple sclerosis | 47,268,596(+) |
G/A NM_005693.4(NR1H3):c.1244G>A (p.Arg415Gln) |
MISSENSE |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
esv3626200 | CNV | loss | 21293372 |
Disorder | Aliases | PubMed IDs |
---|---|---|
multiple sclerosis |
|
|
cerebrotendinous xanthomatosis |
|
|
fatty liver disease |
|
|
non-alcoholic fatty liver disease |
|
|
xanthomatosis |
|
|