NR1H4 - nuclear receptor subfamily 1 group H member 4 Gene
Also Known as BAR; FXR; HRR1; HRR-1; PFIC5; RIP14
Species: Homo sapiens
About NR1H4
This gene has 11 transcripts (splice variants), 388 orthologues, 18 paralogues and is associated with 3 phenotypes. Biased expression in liver (RPKM 14.7), small intestine (RPKM 8.3) and 6 other tissues.
Summary
This gene encodes a ligand-activated transcription factor that shares structural features in common with nuclear hormone receptor family members. This protein functions as a receptor for bile acids, and when bound to bile acids, binds to DNA and regulates the expression of genes involved in bile acid synthesis and transport. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Feb 2016]
NR1H4 Products (12)
| mRNA | Protein | Name |
|---|---|---|
| NM_005123.4 | NP_005114.1 | bile acid receptor isoform 2 |
| NR_135146.2 | ||
| NM_001206979.2 | NP_001193908.1 | bile acid receptor isoform 1 |
| XM_006719719.3 | XP_006719782.1 | bile acid receptor isoform X4 |
| XM_011539040.3 | XP_011537342.1 | bile acid receptor isoform X1 |
| NM_001206977.2 | NP_001193906.1 | bile acid receptor isoform 1 |
| NM_001206978.2 | NP_001193907.1 | bile acid receptor isoform 5 |
| NM_001206993.2 | NP_001193922.1 | bile acid receptor isoform 3 |
| NM_001206992.2 | NP_001193921.1 | bile acid receptor isoform 4 |
| XM_047429943.1 | XP_047285899.1 | bile acid receptor isoform X2 |
| XM_047429944.1 | XP_047285900.1 | bile acid receptor isoform X5 |
| XM_011539041.3 | XP_011537343.1 | bile acid receptor isoform X3 |
| Cellular Component GO Annotation | Evidence | Références | Source |
|---|---|---|---|
| located in euchromatin |
IDA
IDA: Inferred from direct assay
|
21757002 | GOA |
| part of receptor complex |
IDA
IDA: Inferred from direct assay
|
10334992 | GOA |
NR1H4 Protein Structure
zf-C4: Zinc finger, C4 type (two domains) (136 - 202)
Hormone_recep: Ligand-binding domain of nuclear hormone receptor (290 - 463)
- 0
- 100
- 200
- 300
- 400
- 486 a.a.
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
bile acid receptor |
|
|
NR1H4 Protein-protein interaction Information
|
Type
|
Protein Name | Protein ID | Interactor | Interactor Species | Interactor ID | Detection Method | Références |
|---|---|---|---|---|---|---|---|
|
Intra
|
NR1H4 | Q96RI1 | PHF2 | Homo sapiens | O75151 | 21532585 | |
|
Intra
|
NR1H4 | Q96RI1 | SETD7 | Homo sapiens | Q8WTS6 | 22345554 | |
|
Intra
|
NR1H4 | Q96RI1 | SETD7 | Homo sapiens | Q8WTS6 | 22345554 | |
|
Intra
|
NR1H4 | Q96RI1 | SETD7 | Homo sapiens | Q8WTS6 | 22345554 | |
|
Intra
|
NR1H4 | Q96RI1 | SETD7 | Homo sapiens | Q8WTS6 | 22345554 | |
|
Intra
|
NR1H4 | Q96RI1 | NCOA1 | Homo sapiens | Q15788 | 14684751 | |
|
Intra
|
NR1H4 | Q96RI1 | NCOA1 | Homo sapiens | Q15788 | 14684751 |
Related Diseases
| Diseases | Alias | |
|---|---|---|
| Biliary Tract Disease |
|
|
| Cardiovascular System Disease |
|
|
| Cholestasis |
|
|
| Body Mass Index Quantitative Trait Locus 11 |
|
|
| Lysosomal Storage Disease |
|
|
| Osteogenesis Imperfecta, Type Xiii |
|
|
| Cholangitis |
|
|
| Leber Congenital Amaurosis 7 |
|
|
| Fatty Liver Disease |
|
|
| Cholestasis, Progressive Familial Intrahepatic, 5 |
|
|
| Bilirubin Metabolic Disorder |
|
|
| Primary Biliary Cholangitis |
|
|
| Bile Duct Disease |
|
|
| Functional Diarrhea |
|
|
| Cholestasis, Progressive Familial Intrahepatic, 2 |
|
|
| Liver Disease |
|
|
| Diabetes Mellitus |
|
|
| Hypercholesterolemia, Familial, 1 |
|
|
| Type 2 Diabetes Mellitus |
|
|
| Cholelithiasis |
|
|
| Abdominal Obesity-Metabolic Syndrome 1 |
|
|
| Non-Alcoholic Fatty Liver Disease |
|
|
| Cerebrotendinous Xanthomatosis |
|
|
| Trimethylaminuria |
|
|
| Sclerosing Cholangitis |
|
|
| Fragile X Syndrome |
|
|
| Cholangitis, Primary Sclerosing |
|
|
| Non-Alcoholic Steatohepatitis |
|
|
| Pericholangitis |
|
|
| Barrett Esophagus |
|
|
| Biliary Atresia |
|
|
| Intrahepatic Cholestasis Of Pregnancy |
|
|
| Autoimmune Disease Of Gastrointestinal Tract |
|
|
| Hepatic Vascular Disease |
|
|
| Cholestasis, Benign Recurrent Intrahepatic, 1 |
|
|
| Bile Reflux |
|
|
| Arthrogryposis, Distal, Type 1c |
|
|
| Cholestasis, Benign Recurrent Intrahepatic, 2 |
|
|
| Lipid Metabolism Disorder |
|
|
| Cholestasis, Progressive Familial Intrahepatic, 4 |
|
|
| Cholestasis, Progressive Familial Intrahepatic, 1 |
|
|
| Xanthomatosis |
|
|
| Choline Deficiency Disease |
|
|
| Lipid Storage Disease |
|
|
| Portal Hypertension |
|
|
| Alcoholic Hepatitis |
|
|
| Progressive Familial Intrahepatic Cholestasis |
|
|
| Hepatocellular Clear Cell Carcinoma |
|
|
| Extrahepatic Cholestasis |
|
|
| Gallbladder Disease |
|
|
| Cholestasis, Progressive Familial Intrahepatic, 3 |
|
|
Orthologs Information
| Species | Symbol | Source | ID |
|---|---|---|---|
| Bos taurus | NR1H4 | VGNC | VGNC:32232 |
| Canis familiaris | NR1H4 | VGNC | VGNC:43944 |
| Felis catus | NR1H4 | VGNC | VGNC:68546 |
| Rattus norvegicus | NR1H4 | RGD | RGD:628831 |
| Mus musculus | NR1H4 | MGD | MGI:1352464 |
| Macaca mulatta | NR1H4 | VGNC | VGNC:75506 |
| Others | NR1H4 | NCBI |