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HMGCR (3-hydroxy-3-methylglutaryl-CoA reductase)

Identity

Alias_names3-hydroxy-3-methylglutaryl-Coenzyme A reductase
Other aliasLDLCQ3
HGNC (Hugo) HMGCR
LocusID (NCBI) 3156
Atlas_Id 51597
Location 5q13.3  [Link to chromosome band 5q13]
Location_base_pair Starts at 74632993 and ends at 74657926 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
HMGCR (5q13.3) / TP53INP2 (20q11.22)WDR41 (5q13.3) / HMGCR (5q13.3)

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)HMGCR   5006
Cards
Entrez_Gene (NCBI)HMGCR  3156  3-hydroxy-3-methylglutaryl-CoA reductase
AliasesLDLCQ3
GeneCards (Weizmann)HMGCR
Ensembl hg19 (Hinxton)ENSG00000113161 [Gene_View]  chr5:74632993-74657926 [Contig_View]  HMGCR [Vega]
Ensembl hg38 (Hinxton)ENSG00000113161 [Gene_View]  chr5:74632993-74657926 [Contig_View]  HMGCR [Vega]
ICGC DataPortalENSG00000113161
TCGA cBioPortalHMGCR
AceView (NCBI)HMGCR
Genatlas (Paris)HMGCR
WikiGenes3156
SOURCE (Princeton)HMGCR
Genetics Home Reference (NIH)HMGCR
Genomic and cartography
GoldenPath hg19 (UCSC)HMGCR  -     chr5:74632993-74657926 +  5q13.3   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)HMGCR  -     5q13.3   [Description]    (hg38-Dec_2013)
EnsemblHMGCR - 5q13.3 [CytoView hg19]  HMGCR - 5q13.3 [CytoView hg38]
Mapping of homologs : NCBIHMGCR [Mapview hg19]  HMGCR [Mapview hg38]
OMIM142910   
Gene and transcription
Genbank (Entrez)AA648735 AK292892 AK296499 AK299655 AK312437
RefSeq transcript (Entrez)NM_000859 NM_001130996
RefSeq genomic (Entrez)NC_000005 NC_018916 NG_011449 NT_034772 NW_004929322
Consensus coding sequences : CCDS (NCBI)HMGCR
Cluster EST : UnigeneHs.643495 [ NCBI ]
CGAP (NCI)Hs.643495
Alternative Splicing GalleryENSG00000113161
Gene ExpressionHMGCR [ NCBI-GEO ]   HMGCR [ EBI - ARRAY_EXPRESS ]   HMGCR [ SEEK ]   HMGCR [ MEM ]
Gene Expression Viewer (FireBrowse)HMGCR [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)3156
GTEX Portal (Tissue expression)HMGCR
Protein : pattern, domain, 3D structure
UniProt/SwissProtP04035   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP04035  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP04035
Splice isoforms : SwissVarP04035
PhosPhoSitePlusP04035
Domaine pattern : Prosite (Expaxy)HMG_COA_REDUCTASE_1 (PS00066)    HMG_COA_REDUCTASE_2 (PS00318)    HMG_COA_REDUCTASE_3 (PS01192)    HMG_COA_REDUCTASE_4 (PS50065)    SSD (PS50156)   
Domains : Interpro (EBI)HMG_CoA_Rdtase    HMG_CoA_Rdtase_cat    HMG_CoA_Rdtase_CS    HMG_CoA_Rdtase_eu_arc    HMG_CoA_Rdtase_metazoan    HMG_CoA_Rdtase_N    HMG_CoA_Rdtase_NAD(P)-bd_dom    HMG_CoA_Rdtase_sub-bd_dom    SSD   
Domain families : Pfam (Sanger)HMG-CoA_red (PF00368)    Sterol-sensing (PF12349)   
Domain families : Pfam (NCBI)pfam00368    pfam12349   
Conserved Domain (NCBI)HMGCR
DMDM Disease mutations3156
Blocks (Seattle)HMGCR
PDB (SRS)1DQ8    1DQ9    1DQA    1HW8    1HW9    1HWI    1HWJ    1HWK    1HWL    2Q1L    2Q6B    2Q6C    2R4F    3BGL    3CCT    3CCW    3CCZ    3CD0    3CD5    3CD7    3CDA    3CDB   
PDB (PDBSum)1DQ8    1DQ9    1DQA    1HW8    1HW9    1HWI    1HWJ    1HWK    1HWL    2Q1L    2Q6B    2Q6C    2R4F    3BGL    3CCT    3CCW    3CCZ    3CD0    3CD5    3CD7    3CDA    3CDB   
PDB (IMB)1DQ8    1DQ9    1DQA    1HW8    1HW9    1HWI    1HWJ    1HWK    1HWL    2Q1L    2Q6B    2Q6C    2R4F    3BGL    3CCT    3CCW    3CCZ    3CD0    3CD5    3CD7    3CDA    3CDB   
PDB (RSDB)1DQ8    1DQ9    1DQA    1HW8    1HW9    1HWI    1HWJ    1HWK    1HWL    2Q1L    2Q6B    2Q6C    2R4F    3BGL    3CCT    3CCW    3CCZ    3CD0    3CD5    3CD7    3CDA    3CDB   
Structural Biology KnowledgeBase1DQ8    1DQ9    1DQA    1HW8    1HW9    1HWI    1HWJ    1HWK    1HWL    2Q1L    2Q6B    2Q6C    2R4F    3BGL    3CCT    3CCW    3CCZ    3CD0    3CD5    3CD7    3CDA    3CDB   
SCOP (Structural Classification of Proteins)1DQ8    1DQ9    1DQA    1HW8    1HW9    1HWI    1HWJ    1HWK    1HWL    2Q1L    2Q6B    2Q6C    2R4F    3BGL    3CCT    3CCW    3CCZ    3CD0    3CD5    3CD7    3CDA    3CDB   
CATH (Classification of proteins structures)1DQ8    1DQ9    1DQA    1HW8    1HW9    1HWI    1HWJ    1HWK    1HWL    2Q1L    2Q6B    2Q6C    2R4F    3BGL    3CCT    3CCW    3CCZ    3CD0    3CD5    3CD7    3CDA    3CDB   
SuperfamilyP04035
Human Protein AtlasENSG00000113161
Peptide AtlasP04035
HPRD00836
IPIIPI00021770   IPI00221382   IPI00909088   IPI00922451   IPI00965553   IPI00966937   IPI00964196   IPI00942166   
Protein Interaction databases
DIP (DOE-UCLA)P04035
IntAct (EBI)P04035
FunCoupENSG00000113161
BioGRIDHMGCR
STRING (EMBL)HMGCR
ZODIACHMGCR
Ontologies - Pathways
QuickGOP04035
Ontology : AmiGOhydroxymethylglutaryl-CoA reductase (NADPH) activity  protein binding  peroxisomal membrane  endoplasmic reticulum  endoplasmic reticulum membrane  cholesterol biosynthetic process  cholesterol biosynthetic process  ubiquinone metabolic process  aging  response to nutrient  isoprenoid biosynthetic process  visual learning  negative regulation of striated muscle cell apoptotic process  positive regulation of cardiac muscle cell apoptotic process  coenzyme A metabolic process  integral component of membrane  positive regulation of stress-activated MAPK cascade  hydroxymethylglutaryl-CoA reductase activity  protein homodimerization activity  negative regulation of MAP kinase activity  myoblast differentiation  response to ethanol  negative regulation of vasodilation  positive regulation of skeletal muscle tissue development  positive regulation of smooth muscle cell proliferation  coenzyme binding  protein tetramerization  protein phosphatase 2A binding  oxidation-reduction process  negative regulation of wound healing  negative regulation of insulin secretion involved in cellular response to glucose stimulus  positive regulation of ERK1 and ERK2 cascade  NADPH binding  
Ontology : EGO-EBIhydroxymethylglutaryl-CoA reductase (NADPH) activity  protein binding  peroxisomal membrane  endoplasmic reticulum  endoplasmic reticulum membrane  cholesterol biosynthetic process  cholesterol biosynthetic process  ubiquinone metabolic process  aging  response to nutrient  isoprenoid biosynthetic process  visual learning  negative regulation of striated muscle cell apoptotic process  positive regulation of cardiac muscle cell apoptotic process  coenzyme A metabolic process  integral component of membrane  positive regulation of stress-activated MAPK cascade  hydroxymethylglutaryl-CoA reductase activity  protein homodimerization activity  negative regulation of MAP kinase activity  myoblast differentiation  response to ethanol  negative regulation of vasodilation  positive regulation of skeletal muscle tissue development  positive regulation of smooth muscle cell proliferation  coenzyme binding  protein tetramerization  protein phosphatase 2A binding  oxidation-reduction process  negative regulation of wound healing  negative regulation of insulin secretion involved in cellular response to glucose stimulus  positive regulation of ERK1 and ERK2 cascade  NADPH binding  
Pathways : KEGGTerpenoid backbone biosynthesis    Bile secretion   
NDEx NetworkHMGCR
Atlas of Cancer Signalling NetworkHMGCR
Wikipedia pathwaysHMGCR
Orthology - Evolution
OrthoDB3156
GeneTree (enSembl)ENSG00000113161
Phylogenetic Trees/Animal Genes : TreeFamHMGCR
HOVERGENP04035
HOGENOMP04035
Homologs : HomoloGeneHMGCR
Homology/Alignments : Family Browser (UCSC)HMGCR
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerHMGCR [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)HMGCR
dbVarHMGCR
ClinVarHMGCR
1000_GenomesHMGCR 
Exome Variant ServerHMGCR
ExAC (Exome Aggregation Consortium)HMGCR (select the gene name)
Genetic variants : HAPMAP3156
Genomic Variants (DGV)HMGCR [DGVbeta]
DECIPHER (Syndromes)5:74632993-74657926  ENSG00000113161
CONAN: Copy Number AnalysisHMGCR 
Mutations
ICGC Data PortalHMGCR 
TCGA Data PortalHMGCR 
Broad Tumor PortalHMGCR
OASIS PortalHMGCR [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICHMGCR  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDHMGCR
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch HMGCR
DgiDB (Drug Gene Interaction Database)HMGCR
DoCM (Curated mutations)HMGCR (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)HMGCR (select a term)
intoGenHMGCR
Cancer3DHMGCR(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM142910   
Orphanet
MedgenHMGCR
Genetic Testing Registry HMGCR
NextProtP04035 [Medical]
TSGene3156
GENETestsHMGCR
Huge Navigator HMGCR [HugePedia]
snp3D : Map Gene to Disease3156
BioCentury BCIQHMGCR
ClinGenHMGCR
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD3156
Chemical/Pharm GKB GenePA189
Clinical trialHMGCR
Miscellaneous
canSAR (ICR)HMGCR (select the gene name)
Probes
Litterature
PubMed160 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineHMGCR
EVEXHMGCR
GoPubMedHMGCR
iHOPHMGCR
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Thu Mar 30 15:03:59 CEST 2017

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