NR1H4

Gene Name		nuclear receptor subfamily 1, group H, member 4
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Gene Ontology Annotations	Cellular Component	Nucleoplasm Nuclear Euchromatin
	Molecular Function	RNA Polymerase II Core Promoter Proximal Region Sequence-specific DNA Binding RNA Polymerase II Distal Enhancer Sequence-specific DNA Binding RNA Polymerase II Core Promoter Proximal Region Sequence-specific DNA Binding Transcription Factor Activity Involved In Positive Regulation Of Transcription RNA Polymerase II Transcription Factor Binding Transcription Factor Activity Involved In Positive Regulation Of Transcription Double-stranded DNA Binding Sequence-specific DNA Binding Transcription Factor Activity RNA Polymerase II Distal Enhancer Sequence-specific DNA Binding Transcription Factor Activity Steroid Hormone Receptor Activity Transcription Coactivator Activity Transcription Corepressor Activity Ligand-activated Sequence-specific DNA Binding RNA Polymerase II Transcription Factor Activity Thyroid Hormone Receptor Activity Protein Binding Zinc Ion Binding Ligand-dependent Nuclear Receptor Binding Bile Acid Binding Bile Acid Receptor Activity Peptide Binding Sequence-specific DNA Binding Retinoid X Receptor Binding Chenodeoxycholic Acid Binding
	Biological Process	Negative Regulation Of Transcription From RNA Polymerase II Promoter Nitrogen Catabolite Activation Of Transcription From RNA Polymerase II Promoter Regulation Of Carbohydrate Metabolic Process Transcription Initiation From RNA Polymerase II Promoter Signal Transduction Bile Acid Metabolic Process Response To Glucose Gene Expression Intracellular Receptor Signaling Pathway Response To Lipopolysaccharide Regulation Of Urea Metabolic Process Intracellular Bile Acid Receptor Signaling Pathway Steroid Hormone Mediated Signaling Pathway Positive Regulation Of Transcription From RNA Polymerase II Promoter Digestive Tract Development Regulation Of Bile Acid Biosynthetic Process Negative Regulation Of Bile Acid Biosynthetic Process Cellular Response To Organonitrogen Compound Regulation Of Cholesterol Metabolic Process Cellular Response To Bile Acid Positive Regulation Of Glutamate Metabolic Process Positive Regulation Of Ammonia Assimilation Cycle
Pathways		PPARA activates gene expression Bile acid and bile salt metabolism Defective CYP2R1 causes Rickets vitamin D-dependent 1B (VDDR1B) Metabolism of lipids and lipoproteins Metabolic disorders of biological oxidation enzymes Phase 1 - Functionalization of compounds Defective CYP27B1 causes Rickets vitamin D-dependent 1A (VDDR1A) Defective CYP26C1 causes Focal facial dermal dysplasia 4 (FFDD4) Defective CYP2U1 causes Spastic paraplegia 56, autosomal recessive (SPG56) Cytochrome P450 - arranged by substrate type Endogenous sterols Biological oxidations Synthesis of bile acids and bile salts Orphan transporters Defective FMO3 causes Trimethylaminuria (TMAU) Defective TBXAS1 causes Ghosal hematodiaphyseal dysplasia (GHDD) Fatty acid, triacylglycerol, and ketone body metabolism Defective CYP11A1 causes Adrenal insufficiency, congenital, with 46,XY sex reversal (AICSR) Defective CYP27A1 causes Cerebrotendinous xanthomatosis (CTX) Defective CYP11B1 causes Adrenal hyperplasia 4 (AH4) Recycling of bile acids and salts Defective CYP26B1 causes Radiohumeral fusions with other skeletal and craniofacial anomalies (RHFCA) Defective CYP1B1 causes Glaucoma Defective CYP17A1 causes Adrenal hyperplasia 5 (AH5) Defective CYP7B1 causes Spastic paraplegia 5A, autosomal recessive (SPG5A) and Congenital bile acid synthesis defect 3 (CBAS3) Defective CYP19A1 causes Aromatase excess syndrome (AEXS) Defective CYP4F22 causes Ichthyosis, congenital, autosomal recessive 5 (ARCI5) Defective CYP24A1 causes Hypercalcemia, infantile (HCAI) Synthesis of bile acids and bile salts via 27-hydroxycholesterol Synthesis of bile acids and bile salts via 7alpha-hydroxycholesterol Defective MAOA causes Brunner syndrome (BRUNS) Defective CYP11B2 causes Corticosterone methyloxidase 1 deficiency (CMO-1 deficiency) Defective CYP21A2 causes Adrenal hyperplasia 3 (AH3) Regulation of lipid metabolism by Peroxisome proliferator-activated receptor alpha (PPARalpha)
Drugs		Fexaramine Chenodeoxycholic acid (8alpha,10alpha,13alpha,17beta)-17-[(4-hydroxyphenyl)carbonyl]androsta-3,5-diene-3-carboxylic acid
Diseases
GWAS		Squamous cell carcinoma ( 23341777)
Protein-protein Interactions		16 interactors: CASP8 EP300 ESR1 GAPDH HIST1H3A HIST1H4A NCOA1 NCOA6 NCOR2 PPARGC1A RXRA RXRG SIRT1 SMARCD1 SMARCD3 SRC
Entrez ID		9971
HPRD ID		04827
Ensembl ID		ENSG00000012504
Uniprot IDs		B6ZGS9 F1DAL1 Q96RI1
PDB IDs		1OSH 1OSK 3BEJ 3DCT 3DCU 3FLI 3FXV 3GD2 3HC5 3HC6 3L1B 3OKH 3OKI 3OLF 3OMK 3OMM 3OOF 3OOK 3P88 3P89 3RUT 3RUU 3RVF 4II6
Enriched GO Terms of Interacting Partners?		Intracellular Receptor Signaling Pathway Response To Hormone Positive Regulation Of Transcription, DNA-templated Chromatin Organization Positive Regulation Of Macromolecule Biosynthetic Process Response To Steroid Hormone Positive Regulation Of Gene Expression Positive Regulation Of Cellular Biosynthetic Process Regulation Of Gene Expression Response To Lipid Transcription Initiation From RNA Polymerase II Promoter Intracellular Steroid Hormone Receptor Signaling Pathway Response To Organic Cyclic Compound Regulation Of Transcription From RNA Polymerase II Promoter Cellular Response To Organic Substance Response To Organic Substance Positive Regulation Of Cellular Metabolic Process Regulation Of Transcription, DNA-templated Regulation Of Nucleic Acid-templated Transcription Chromosome Organization Regulation Of RNA Biosynthetic Process DNA-templated Transcription, Initiation Regulation Of RNA Metabolic Process Positive Regulation Of Transcription From RNA Polymerase II Promoter Involved In Cellular Response To Chemical Stimulus Regulation Of Metabolic Process Reproductive Structure Development Reproductive System Development Heart Development Regulation Of Nitrogen Compound Metabolic Process Rhythmic Process Cardiovascular System Development Organelle Organization Negative Regulation Of Gene Expression Chromatin Modification Positive Regulation Of Metabolic Process Gene Expression Positive Regulation Of Transcription From RNA Polymerase II Promoter Chromatin Remodeling Chromatin Silencing At RDNA Response To Estrogen Developmental Process Involved In Reproduction Intracellular Estrogen Receptor Signaling Pathway Organ Development Transcription, DNA-templated Single Organism Reproductive Process RNA Biosynthetic Process Cellular Response To Hypoxia Cellular Response To Decreased Oxygen Levels Lipid Metabolic Process Transcription From RNA Polymerase II Promoter
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