ENSG00000012504


Homo sapiens

Features
Gene ID: ENSG00000012504
  
Biological name :NR1H4
  
Synonyms : NR1H4 / nuclear receptor subfamily 1 group H member 4 / Q96RI1
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 12
Strand: 1
Band: q23.1
Gene start: 100473708
Gene end: 100564413
  
Corresponding Affymetrix probe sets: 1554375_a_at (Human Genome U133 Plus 2.0 Array)   206340_at (Human Genome U133 Plus 2.0 Array)   243800_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000448506
Ensembl peptide - ENSP00000447149
Ensembl peptide - ENSP00000448978
Ensembl peptide - ENSP00000188403
Ensembl peptide - ENSP00000315442
Ensembl peptide - ENSP00000376712
Ensembl peptide - ENSP00000446584
Ensembl peptide - ENSP00000446760
Ensembl peptide - ENSP00000446861
NCBI entrez gene - 9971     See in Manteia.
OMIM - 603826
RefSeq - XM_011539041
RefSeq - NM_001206977
RefSeq - NM_001206978
RefSeq - NM_001206979
RefSeq - NM_001206992
RefSeq - NM_001206993
RefSeq - NM_005123
RefSeq - XM_011539040
RefSeq Peptide - NP_001193922
RefSeq Peptide - NP_005114
RefSeq Peptide - NP_001193906
RefSeq Peptide - NP_001193907
RefSeq Peptide - NP_001193908
RefSeq Peptide - NP_001193921
swissprot - F1DAL1
swissprot - F8W1M1
swissprot - F8W656
swissprot - Q96RI1
swissprot - B6ZGS9
swissprot - G8JLB0
swissprot - H0YHD5
Ensembl - ENSG00000012504
  
Related genetic diseases (OMIM): 617049 - Cholestasis, progressive familial intrahepatic, 5, 617049

This gene has been taged as a transcription factor by TFT
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 nr1h4ENSDARG00000057741Danio rerio
 NR1H4ENSGALG00000011594Gallus gallus
 Nr1h4ENSMUSG00000047638Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
NR1H2 / P55055 / nuclear receptor subfamily 1 group H member 2ENSG0000013140831
NR1H3 / Q13133 / nuclear receptor subfamily 1 group H member 3ENSG0000002543431
VDR / P11473 / vitamin D receptorENSG0000011142425
RARB / P10826 / retinoic acid receptor betaENSG0000007709224
NR1I2 / O75469 / nuclear receptor subfamily 1 group I member 2ENSG0000014485224
THRA / P10827 / thyroid hormone receptor, alphaENSG0000012635124
THRB / P10828 / thyroid hormone receptor betaENSG0000015109024
RARG / P13631 / retinoic acid receptor gammaENSG0000017281923
RARA / P10276 / retinoic acid receptor alphaENSG0000013175923
NR1I3 / Q14994 / nuclear receptor subfamily 1 group I member 3ENSG0000014325721


Protein motifs (from Interpro)
Interpro ID Name
 IPR000536  Nuclear hormone receptor, ligand-binding domain
 IPR001628  Zinc finger, nuclear hormone receptor-type
 IPR001723  Nuclear hormone receptor
 IPR001728  Thyroid hormone receptor
 IPR013088  Zinc finger, NHR/GATA-type
 IPR035500  Nuclear hormone receptor-like domain superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0000122 negative regulation of transcription by RNA polymerase II ISS
 biological_processGO:0001080 nitrogen catabolite activation of transcription from RNA polymerase II promoter IC
 biological_processGO:0002376 immune system process IEA
 biological_processGO:0006351 transcription, DNA-templated IEA
 biological_processGO:0006355 regulation of transcription, DNA-templated IEA
 biological_processGO:0006357 regulation of transcription by RNA polymerase II IEA
 biological_processGO:0006367 transcription initiation from RNA polymerase II promoter TAS
 biological_processGO:0006954 inflammatory response IEA
 biological_processGO:0007043 cell-cell junction assembly IEA
 biological_processGO:0007165 signal transduction TAS
 biological_processGO:0007219 Notch signaling pathway IEA
 biological_processGO:0008206 bile acid metabolic process IEA
 biological_processGO:0010804 negative regulation of tumor necrosis factor-mediated signaling pathway IEA
 biological_processGO:0010988 regulation of low-density lipoprotein particle clearance IDA
 biological_processGO:0015721 bile acid and bile salt transport TAS
 biological_processGO:0030522 intracellular receptor signaling pathway ISS
 biological_processGO:0032088 negative regulation of NF-kappaB transcription factor activity IEA
 biological_processGO:0032689 negative regulation of interferon-gamma production IEA
 biological_processGO:0032692 negative regulation of interleukin-1 production IEA
 biological_processGO:0032703 negative regulation of interleukin-2 production IEA
 biological_processGO:0032715 negative regulation of interleukin-6 production IEA
 biological_processGO:0032720 negative regulation of tumor necrosis factor production IEA
 biological_processGO:0034142 toll-like receptor 4 signaling pathway IDA
 biological_processGO:0034162 toll-like receptor 9 signaling pathway IEA
 biological_processGO:0034255 regulation of urea metabolic process ISS
 biological_processGO:0034971 histone H3-R17 methylation IDA
 biological_processGO:0035356 cellular triglyceride homeostasis IDA
 biological_processGO:0035774 positive regulation of insulin secretion involved in cellular response to glucose stimulus IEA
 biological_processGO:0038183 bile acid signaling pathway TAS
 biological_processGO:0038185 intracellular bile acid receptor signaling pathway IDA
 biological_processGO:0042593 glucose homeostasis IEA
 biological_processGO:0042742 defense response to bacterium IEA
 biological_processGO:0043066 negative regulation of apoptotic process IDA
 biological_processGO:0043124 negative regulation of I-kappaB kinase/NF-kappaB signaling IDA
 biological_processGO:0043401 steroid hormone mediated signaling pathway IEA
 biological_processGO:0045087 innate immune response IEA
 biological_processGO:0045944 positive regulation of transcription by RNA polymerase II IDA
 biological_processGO:0046628 positive regulation of insulin receptor signaling pathway IEA
 biological_processGO:0050728 negative regulation of inflammatory response IEA
 biological_processGO:0055089 fatty acid homeostasis IEA
 biological_processGO:0061178 regulation of insulin secretion involved in cellular response to glucose stimulus IDA
 biological_processGO:0070328 triglyceride homeostasis IEA
 biological_processGO:0070857 regulation of bile acid biosynthetic process TAS
 biological_processGO:0070858 negative regulation of bile acid biosynthetic process IDA
 biological_processGO:0071222 cellular response to lipopolysaccharide IEA
 biological_processGO:0071398 cellular response to fatty acid IDA
 biological_processGO:0071417 cellular response to organonitrogen compound ISS
 biological_processGO:0071638 negative regulation of monocyte chemotactic protein-1 production IEA
 biological_processGO:0072615 interleukin-17 secretion IDA
 biological_processGO:0090181 regulation of cholesterol metabolic process TAS
 biological_processGO:1902714 negative regulation of interferon-gamma secretion IDA
 biological_processGO:1904179 positive regulation of adipose tissue development IEA
 biological_processGO:1904468 negative regulation of tumor necrosis factor secretion IDA
 biological_processGO:1905695 positive regulation of phosphatidic acid biosynthetic process IDA
 biological_processGO:2000213 positive regulation of glutamate metabolic process ISS
 biological_processGO:2001250 positive regulation of ammonia assimilation cycle IEA
 biological_processGO:2001275 positive regulation of glucose import in response to insulin stimulus IEA
 cellular_componentGO:0005634 nucleus IEA
 cellular_componentGO:0005654 nucleoplasm TAS
 cellular_componentGO:0005719 nuclear euchromatin IDA
 molecular_functionGO:0000977 RNA polymerase II regulatory region sequence-specific DNA binding IDA
 molecular_functionGO:0000980 RNA polymerase II distal enhancer sequence-specific DNA binding IDA
 molecular_functionGO:0000981 RNA polymerase II transcription factor activity, sequence-specific DNA binding NAS
 molecular_functionGO:0001077 transcriptional activator activity, RNA polymerase II proximal promoter sequence-specific DNA binding IDA
 molecular_functionGO:0001190 transcriptional activator activity, RNA polymerase II transcription factor binding IDA
 molecular_functionGO:0003677 DNA binding IEA
 molecular_functionGO:0003700 DNA-binding transcription factor activity TAS
 molecular_functionGO:0003705 transcription factor activity, RNA polymerase II distal enhancer sequence-specific binding IDA
 molecular_functionGO:0003707 steroid hormone receptor activity IEA
 molecular_functionGO:0003713 transcription coactivator activity TAS
 molecular_functionGO:0003714 transcription corepressor activity TAS
 molecular_functionGO:0004879 nuclear receptor activity IDA
 molecular_functionGO:0004887 thyroid hormone receptor activity IEA
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0008270 zinc ion binding IEA
 molecular_functionGO:0016922 nuclear receptor binding TAS
 molecular_functionGO:0032052 bile acid binding TAS
 molecular_functionGO:0038181 bile acid receptor activity TAS
 molecular_functionGO:0043565 sequence-specific DNA binding IDA
 molecular_functionGO:0046872 metal ion binding IEA
 molecular_functionGO:0046965 retinoid X receptor binding IEA
 molecular_functionGO:1902122 chenodeoxycholic acid binding IDA


Pathways (from Reactome)
Pathway description
Recycling of bile acids and salts
Synthesis of bile acids and bile salts
Synthesis of bile acids and bile salts via 7alpha-hydroxycholesterol
Synthesis of bile acids and bile salts via 27-hydroxycholesterol
PPARA activates gene expression
Endogenous sterols


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000007 Autosomal recessive inheritance "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele)." [HPO:curators]
Show

 HP:0000952 Jaundice "Yellow pigmentation of the skin or sclera due to bilirubin, which in turn is the result of increased bilirubin concentration in the bloodstream." [HPO:curators]
Show

 HP:0000969 Edema "An abnormal accumulation of fluid beneath the skin, or in one or more cavities of the body. Edema may be related to one or more of the following factors: 1) increased capillary hydrostatic pressure, 2) decreased osmotic pressure of plasma, 3) decreased tissue tension and lymphatic drainage, 4) increased osmotic pressure of tissue fluids, and 5) increased capillary permeability." [HPO:curators]
Show

 HP:0001394 Cirrhosis 
Show

 HP:0001399 Hepatic failure 
Show

 HP:0001508 Failure to thrive 
Show

 HP:0001943 Hypoglycemia "A lower than normal level of blood glucose." [HPO:curators]
Show

 HP:0001987 Hyperammonemia 
Show

 HP:0002910 Elevated transaminases "Elevations of the levels of SGOT and SGPT in the serum. SGOT (serum glutamic oxaloacetic transaminase) and SGPT (serum glutamic pyruvic transaminase) are transaminases primarily found in the liver and heart and are released into the bloodstream as the result of liver or heart damage. SGOT and SGPT are used clinically mainly as markers of liver damage." [HPO:curators]
Show

 HP:0003678 Rapidly progressive 
Show

 HP:0008151 Prolonged prothrombin and partial thromboplastin times 
Show

  


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSG00000186350 RXRA / P19793 / retinoid X receptor alpha  / reaction / complex
 ENSG00000140396 NCOA2 / Q15596 / nuclear receptor coactivator 2  / complex / reaction
 ENSG00000116030 SUMO1 / P63165 / small ubiquitin-like modifier 1  / complex / reaction
 ENSG00000084676 NCOA1 / Q15788 / nuclear receptor coactivator 1  / complex / reaction
 ENSG00000103275 UBE2I / P63279 / ubiquitin conjugating enzyme E2 I  / reaction






 

1 s.

 
External programs and data are copyrighted by and are the property of their respective authors.
The Manteia system, data and analyses are provided "as is" with no warranties, expressed or implied as to capabilities or accuracy. User assumes the entire risk as to the results and performance of the software, data and documentation


                   

© Olivier Tassy / Olivier Pourquie 2007-2024
contact: otassy@igbmc.fr