Atlas of Genetics and Cytogenetics in Oncology and Haematology


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NR1H3 (nuclear receptor subfamily 1 group H member 3)

Identity

Alias_namesnuclear receptor subfamily 1
Alias_symbol (synonym)LXR-a
RLD-1
Other aliasLXRA
HGNC (Hugo) NR1H3
LocusID (NCBI) 10062
Atlas_Id 47418
Location 11p11.2  [Link to chromosome band 11p11]
Location_base_pair Starts at 47257917 and ends at 47269033 bp from pter ( according to hg38-Dec_2013)

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 


External links

Nomenclature
HGNC (Hugo)NR1H3   7966
Cards
Entrez_Gene (NCBI)NR1H3  10062  nuclear receptor subfamily 1 group H member 3
AliasesLXR-a; LXRA; RLD-1
GeneCards (Weizmann)NR1H3
Ensembl hg19 (Hinxton)ENSG00000025434 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000025434 [Gene_View]  chr11:47257917-47269033 [Contig_View]  NR1H3 [Vega]
ICGC DataPortalENSG00000025434
TCGA cBioPortalNR1H3
AceView (NCBI)NR1H3
Genatlas (Paris)NR1H3
WikiGenes10062
SOURCE (Princeton)NR1H3
Genetics Home Reference (NIH)NR1H3
Genomic and cartography
GoldenPath hg38 (UCSC)NR1H3  -     chr11:47257917-47269033 +  11p11.2   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)NR1H3  -     11p11.2   [Description]    (hg19-Feb_2009)
EnsemblNR1H3 - 11p11.2 [CytoView hg19]  NR1H3 - 11p11.2 [CytoView hg38]
Mapping of homologs : NCBINR1H3 [Mapview hg19]  NR1H3 [Mapview hg38]
OMIM602423   
Gene and transcription
Genbank (Entrez)AA644385 AB307698 AI097478 AI648486 AK122661
RefSeq transcript (Entrez)NM_001130101 NM_001130102 NM_001251934 NM_001251935 NM_005693
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)NR1H3
Cluster EST : UnigeneHs.438863 [ NCBI ]
CGAP (NCI)Hs.438863
Alternative Splicing GalleryENSG00000025434
Gene ExpressionNR1H3 [ NCBI-GEO ]   NR1H3 [ EBI - ARRAY_EXPRESS ]   NR1H3 [ SEEK ]   NR1H3 [ MEM ]
Gene Expression Viewer (FireBrowse)NR1H3 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)10062
GTEX Portal (Tissue expression)NR1H3
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ13133   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ13133  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ13133
Splice isoforms : SwissVarQ13133
PhosPhoSitePlusQ13133
Domaine pattern : Prosite (Expaxy)NUCLEAR_REC_DBD_1 (PS00031)    NUCLEAR_REC_DBD_2 (PS51030)   
Domains : Interpro (EBI)Liver_X_rcpt    Nucl_hrmn_rcpt_lig-bd    Nuclear_hrmn_rcpt    Znf_hrmn_rcpt    Znf_NHR/GATA   
Domain families : Pfam (Sanger)Hormone_recep (PF00104)    zf-C4 (PF00105)   
Domain families : Pfam (NCBI)pfam00104    pfam00105   
Domain families : Smart (EMBL)HOLI (SM00430)  ZnF_C4 (SM00399)  
Conserved Domain (NCBI)NR1H3
DMDM Disease mutations10062
Blocks (Seattle)NR1H3
PDB (SRS)1UHL    3IPQ    3IPS    3IPU    5AVI    5AVL    5HJS   
PDB (PDBSum)1UHL    3IPQ    3IPS    3IPU    5AVI    5AVL    5HJS   
PDB (IMB)1UHL    3IPQ    3IPS    3IPU    5AVI    5AVL    5HJS   
PDB (RSDB)1UHL    3IPQ    3IPS    3IPU    5AVI    5AVL    5HJS   
Structural Biology KnowledgeBase1UHL    3IPQ    3IPS    3IPU    5AVI    5AVL    5HJS   
SCOP (Structural Classification of Proteins)1UHL    3IPQ    3IPS    3IPU    5AVI    5AVL    5HJS   
CATH (Classification of proteins structures)1UHL    3IPQ    3IPS    3IPU    5AVI    5AVL    5HJS   
SuperfamilyQ13133
Human Protein AtlasENSG00000025434
Peptide AtlasQ13133
HPRD07211
IPIIPI00220134   IPI00301894   IPI00879649   IPI00790577   IPI00791645   IPI00878572   IPI00877914   IPI00878873   IPI00878393   IPI00879201   IPI00878705   IPI00879837   IPI00796145   IPI00976161   IPI01011352   IPI00984620   
Protein Interaction databases
DIP (DOE-UCLA)Q13133
IntAct (EBI)Q13133
FunCoupENSG00000025434
BioGRIDNR1H3
STRING (EMBL)NR1H3
ZODIACNR1H3
Ontologies - Pathways
QuickGOQ13133
Ontology : AmiGOnegative regulation of transcription from RNA polymerase II promoter  nuclear chromatin  DNA binding  steroid hormone receptor activity  transcription coactivator activity  RNA polymerase II transcription factor activity, ligand-activated sequence-specific DNA binding  protein binding  nucleus  nucleoplasm  transcription initiation from RNA polymerase II promoter  zinc ion binding  negative regulation of macrophage derived foam cell differentiation  positive regulation of triglyceride biosynthetic process  positive regulation of receptor biosynthetic process  positive regulation of cholesterol efflux  positive regulation of cholesterol efflux  negative regulation of cholesterol storage  cholesterol binding  intracellular receptor signaling pathway  positive regulation of cellular protein metabolic process  negative regulation of lipid transport  positive regulation of cholesterol transport  response to progesterone  sterol response element binding  positive regulation of toll-like receptor 4 signaling pathway  cholesterol homeostasis  regulation of circadian rhythm  negative regulation of macrophage activation  receptor complex  apoptotic cell clearance  steroid hormone mediated signaling pathway  sequence-specific DNA binding  transcription regulatory region DNA binding  transcription regulatory region DNA binding  positive regulation of fatty acid biosynthetic process  positive regulation of transcription, DNA-templated  positive regulation of transcription, DNA-templated  positive regulation of transcription from RNA polymerase II promoter  positive regulation of transcription from RNA polymerase II promoter  negative regulation of pinocytosis  negative regulation of inflammatory response  positive regulation of lipoprotein lipase activity  lipid homeostasis  sterol homeostasis  negative regulation of interferon-gamma-mediated signaling pathway  triglyceride homeostasis  cellular response to lipopolysaccharide  negative regulation of pancreatic juice secretion  negative regulation of secretion of lysosomal enzymes  RNA polymerase II transcription factor complex  regulation of cholesterol homeostasis  positive regulation of cholesterol homeostasis  
Ontology : EGO-EBInegative regulation of transcription from RNA polymerase II promoter  nuclear chromatin  DNA binding  steroid hormone receptor activity  transcription coactivator activity  RNA polymerase II transcription factor activity, ligand-activated sequence-specific DNA binding  protein binding  nucleus  nucleoplasm  transcription initiation from RNA polymerase II promoter  zinc ion binding  negative regulation of macrophage derived foam cell differentiation  positive regulation of triglyceride biosynthetic process  positive regulation of receptor biosynthetic process  positive regulation of cholesterol efflux  positive regulation of cholesterol efflux  negative regulation of cholesterol storage  cholesterol binding  intracellular receptor signaling pathway  positive regulation of cellular protein metabolic process  negative regulation of lipid transport  positive regulation of cholesterol transport  response to progesterone  sterol response element binding  positive regulation of toll-like receptor 4 signaling pathway  cholesterol homeostasis  regulation of circadian rhythm  negative regulation of macrophage activation  receptor complex  apoptotic cell clearance  steroid hormone mediated signaling pathway  sequence-specific DNA binding  transcription regulatory region DNA binding  transcription regulatory region DNA binding  positive regulation of fatty acid biosynthetic process  positive regulation of transcription, DNA-templated  positive regulation of transcription, DNA-templated  positive regulation of transcription from RNA polymerase II promoter  positive regulation of transcription from RNA polymerase II promoter  negative regulation of pinocytosis  negative regulation of inflammatory response  positive regulation of lipoprotein lipase activity  lipid homeostasis  sterol homeostasis  negative regulation of interferon-gamma-mediated signaling pathway  triglyceride homeostasis  cellular response to lipopolysaccharide  negative regulation of pancreatic juice secretion  negative regulation of secretion of lysosomal enzymes  RNA polymerase II transcription factor complex  regulation of cholesterol homeostasis  positive regulation of cholesterol homeostasis  
Pathways : BIOCARTAMechanism of Gene Regulation by Peroxisome Proliferators via PPARa(alpha) [Genes]    Nuclear Receptors in Lipid Metabolism and Toxicity [Genes]    FXR and LXR Regulation of Cholesterol Metabolism [Genes]   
Pathways : KEGGPPAR signaling pathway    Non-alcoholic fatty liver disease (NAFLD)    Hepatitis C   
NDEx NetworkNR1H3
Atlas of Cancer Signalling NetworkNR1H3
Wikipedia pathwaysNR1H3
Orthology - Evolution
OrthoDB10062
GeneTree (enSembl)ENSG00000025434
Phylogenetic Trees/Animal Genes : TreeFamNR1H3
HOVERGENQ13133
HOGENOMQ13133
Homologs : HomoloGeneNR1H3
Homology/Alignments : Family Browser (UCSC)NR1H3
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerNR1H3 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)NR1H3
dbVarNR1H3
ClinVarNR1H3
1000_GenomesNR1H3 
Exome Variant ServerNR1H3
ExAC (Exome Aggregation Consortium)NR1H3 (select the gene name)
Genetic variants : HAPMAP10062
Genomic Variants (DGV)NR1H3 [DGVbeta]
DECIPHERNR1H3 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisNR1H3 
Mutations
ICGC Data PortalNR1H3 
TCGA Data PortalNR1H3 
Broad Tumor PortalNR1H3
OASIS PortalNR1H3 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICNR1H3  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDNR1H3
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch NR1H3
DgiDB (Drug Gene Interaction Database)NR1H3
DoCM (Curated mutations)NR1H3 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)NR1H3 (select a term)
intoGenNR1H3
Cancer3DNR1H3(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM602423   
Orphanet
MedgenNR1H3
Genetic Testing Registry NR1H3
NextProtQ13133 [Medical]
TSGene10062
GENETestsNR1H3
Target ValidationNR1H3
Huge Navigator NR1H3 [HugePedia]
snp3D : Map Gene to Disease10062
BioCentury BCIQNR1H3
ClinGenNR1H3
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD10062
Chemical/Pharm GKB GenePA31751
Clinical trialNR1H3
Miscellaneous
canSAR (ICR)NR1H3 (select the gene name)
Probes
Litterature
PubMed260 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineNR1H3
EVEXNR1H3
GoPubMedNR1H3
iHOPNR1H3
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Tue Aug 1 17:09:23 CEST 2017

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