HMGCR Gene
protein-coding GIFtS: 67
GCID: GC05P074635
|
|
3-hydroxy-3-methylglutaryl-CoA reductase(Previous name: 3-hydroxy-3-methylglutaryl-Coenzyme A reductase )
| |
Aliases
for HMGCR gene
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc,
7Ensembl,
8DME,
9miRBase,
and/or 10fRNAdb)
About This Section
|
| Aliases |
|---|
| 3-Hydroxy-3-Methylglutaryl-CoA Reductase1 2 | | LDLCQ32 5 | | 3-Hydroxy-3-Methylglutaryl-Coenzyme A Reductase1 2 | | 3-Hydroxy-3-Methylglutaryl CoA Reductase (NADPH)2 | | HMG-CoA Reductase2 3 | | Hydroxymethylglutaryl-CoA Reductase2 | | EC 1.1.1.343 8 | | EC 1.1.18 |
Export aliases for HMGCR gene to outside databasesPrevious GC identifers: GC05P073440 GC05P074869 GC05P074671 GC05P074717 GC05P074668 GC05P069838 |
Summaries
for HMGCR gene(According to Entrez Gene,
Tocris Bioscience,
Wikipedia's
Gene Wiki,
PharmGKB,
UniProtKB/Swiss-Prot,
and/or
UniProtKB/TrEMBL)
About This Section
|
Entrez Gene summary for HMGCR:
HMG-CoA reductase is the rate-limiting enzyme for cholesterol synthesis and is regulated via a negative feedbackmechanism mediated by sterols and non-sterol metabolites derived from mevalonate, the product of the reactioncatalyzed by reductase. Normally in mammalian cells this enzyme is suppressed by cholesterol derived from theinternalization and degradation of low density lipoprotein (LDL) via the LDL receptor. Competitive inhibitors of thereductase induce the expression of LDL receptors in the liver, which in turn increases the catabolism of plasma LDLand lowers the plasma concentration of cholesterol, an important determinant of atherosclerosis. Alternatively splicedtranscript variants encoding different isoforms have been found for this gene. (provided by RefSeq, Aug 2008)
UniProtKB/Swiss-Prot: HMDH_HUMAN, P04035Function: Transmembrane glycoprotein that is the rate-limiting enzyme in cholesterol biosynthesis as well as in thebiosynthesis of nonsterol isoprenoids that are essential for normal cell function including ubiquinone andgeranylgeranyl proteins
 summary
for HMGCR: 3-hydroxy-3-methyl-glutaryl-CoA reductase (HMG-CoA reductase) catalyzes the rate limiting step in
cholesterol biosynthesis - the conversion of 3-hydroxy-3-methyl-glutaryl-CoA into mevalonic acid. This
transmembrane enzyme is bound to the endoplasmic reticulum and is ubiquitously expressed. When cholesterol
levels falls, HMG-CoA reductase is transcriptionally upregulated by sterol regulatory element binding
protein (SREBP), which binds to the sterol regulatory element (SRE) in the 5' region of the HMG-CoA gene.
When cholesterol levels are elevated, short-term regulation of HMG-CoA is mediated by Ser872 phosphorylation
by AMP-activated protein kinase and long-term regulation is mediated by the increased sensitivity of this
enzyme to proteolytic breakdown. HMG-CoA reductase is the pharmalogical target for statins and the human
gene encoding this enzyme is localized to 5q13.3-q14.
Gene Wiki entry for HMGCR (HMG-CoA reductase)
PharmGKB "VIP" summary for
HMGCR
|
Genomic Views
for HMGCR gene
(According to
GeneLoc and/or
HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to
UCSC (hg19) and
Ensembl (release 69),
Regulatory elements and Epigenetics data according to
QIAGEN,
SABiosciences, and/or
SwitchGear Genomics)
About This Section
| RefSeq DNA sequence:- NC_000005.9 NC_018916.1 NT_006713.15
Regulatory elements:
 SABiosciences Regulatory transcription factor binding sites in the HMGCR gene promoter:
SREBP-1c SREBP-1b PPAR-alpha PPAR-gamma1 CBF-A SREBP-1a c-Myb PPAR-gamma2 CP1C CBF(2)
Other transcription factors
Search SABiosciences Chromatin IP Primers for HMGCR
Epigenetics:
| | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat HMGCR |
Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track
Entrez Gene cytogenetic band: 5q13.3-q14 Ensembl cytogenetic band: 5q13.3 HGNC cytogenetic band: 5q13.3-q14HMGCR Gene in genomic location: bands according to Ensembl, locations according to
 (and/or Entrez Gene and/or Ensembl if different)
GeneLoc information about chromosome 5 GeneLoc Exon Structure GeneLoc location for GC05P074635: view genomic region
(about GC identifiers)
Start:
|
74,632,154 bp from pter |
End:
|
74,657,929 bp from pter |
Size:
|
25,776 bases |
Orientation:
|
plus strand |
|
Proteins
for HMGCR gene
(According to
1UniProtKB,
HORDE,
neXtProt,
Ensembl,
and/or Reactome,
Modification sites according to 2PhosphoSitePlus,
Specific Peptides from DME,
Protein expression images according to data from SPIRE MOPED and PaxDb,
RefSeq according to NCBI,
PDB rendering according to OCA and/or Proteopedia,
Recombinant Proteins
from
EMD Millipore,
R&D Systems,
GenScript,
Enzo Life Sciences,
OriGene,
Novus Biologicals,
Sino Biological,
ProSpec, and/or
Uscn,
Biochemical Assays by
EMD Millipore,
R&D Systems,
OriGene,
GenScript,
Cell Signaling Technology,
Enzo Life Sciences, and/or
Uscn,
Ontologies according to Gene
Ontology Consortium 01 Mar 2013 and
Entrez Gene,
Antibodies by
EMD Millipore,
R&D Systems,
GenScript,
Cell Signaling Technology,
OriGene,
Novus Biologicals,
Thermo Fisher Scientific,
Abcam, and/or
Uscn)
About This Section
|
UniProtKB/Swiss-Prot: HMDH_HUMAN, P04035 (See
protein sequence)Recommended Name: 3-hydroxy-3-methylglutaryl-coenzyme A reductase Size: 888 amino acids; 97476 Da
Subunit: Homodimer. Interacts (via its SSD) with INSIG1; the interaction, accelerated by sterols, leads to therecruitment of HMGCR to AMFR/gp78 for its ubiquitination by the sterol-mediated ERAD pathway
Subcellular location: Endoplasmic reticulum membrane; Multi-pass membrane protein
6/22 PDB 3D structures from  and Proteopedia  for HMGCR (see all 22):1DQ8 (3D)
1DQ9 (3D)
1DQA (3D)
1HW8 (3D)
1HW9 (3D)
1HWI (3D)
Secondary accessions: Q8N190Alternative splicing: 2 isoforms: P04035-1 P04035-2 (No experimental confirmation available)Explore the universe of human proteins at neXtProt for HMGCR: NX_P04035
Post-translational modifications:
N-glycosylated. Deglycosylated by NGLY1 on release from the endoplasmic reticulum (ER) in a sterol-mediated manner1
Undergoes sterol-mediated ubiquitination and ER-association degradation (ERAD). Accumulation of sterols in theendoplasmic reticulum (ER) membrane, triggers binding of the reductase to the ER membrane protein INSIG1. This INSIG1binding leads to the recruitment of the ubiquitin ligase, AMFR/gp78, initiating ubiquitination of the reductase. Theubiquitinated reductase is then extracted from the ER membrane and delivered to cytosolic 26S proteosomes by amechanism probably mediated by the ATPase Valosin-containing protein VCP/p97. Lys-248 is the main site ofubiquitination. Ubiquitination is enhanced by the presence of a geranylgeranylated protein1
View modification sites using PhosphoSitePlus2View neXtProt modification sites for NX_P04035
4/40 DME Specific Peptides for HMGCR (P04035) (see all 40)
HMGCR Protein expression data from MOPED and PaxDb: About this image 
REFSEQ proteins (2 alternative transcripts):
NP_000850.1 NP_001124468.1
ENSEMBL proteins: ENSP00000426745 ENSP00000287936 ENSP00000340816 ENSP00000427340 ENSP00000409100 ENSP00000421378 ENSP00000420871 Reactome Protein details: P04035
Human Recombinant Protein Products:
Gene Ontology (GO): 5 cellular component terms (GO ID links to tree view): About this table
HMGCR for ontologies About GeneDecksing
HMGCR Antibody Products:
Assay Products for HMGCR: |
Protein
Domains /
Families
for HMGCR gene(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
|
HMGCR for domains About GeneDecksing
5/9 InterPro domains/families (see all 9):Graphical View of Domain Structure for InterPro Entry P04035ProtoNet protein and cluster: P04035 1 Blocks protein family: IPB002202 Hydroxymethylglutaryl-coenzyme A reductase
UniProtKB/Swiss-Prot: HMDH_HUMAN, P04035Similarity: Belongs to the HMG-CoA reductase familySimilarity: Contains 1 SSD (sterol-sensing) domain |
Function
for HMGCR gene
(According to 1UniProtKB,
Genatlas,
LifeMap Discovery™,
IUBMB, and/or
2DME,
Human phenotypes from GenomeRNAi,
Animal models from MGI Mar 06 2013,
bound targets from SABiosciences,
miRNA Gene Targets from miRTarBase
shRNA from
OriGene,
RNAi from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
microRNA from QIAGEN,
Gene Editing from DNA2.0,
Clones from EMD Millipore,
OriGene,
SwitchGear Genomics,
GenScript,
Sino Biological,
DNA2.0,
and Vector BioLabs,
Cell Lines from GenScript,
LifeMap BioReagents,
In Situ Hybridization Assays from Advanced Cell Diagnostics,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene.)
About This Section
|
Function Summary:
UniProtKB/Swiss-Prot: HMDH_HUMAN, P04035Function: Transmembrane glycoprotein that is the rate-limiting enzyme in cholesterol biosynthesis as well as in thebiosynthesis of nonsterol isoprenoids that are essential for normal cell function including ubiquinone andgeranylgeranyl proteinsCatalytic activity: (R)-mevalonate + CoA + 2 NADP(+) = (S)-3-hydroxy-3-methylglutaryl-CoA + 2 NADPHEnzyme regulation: Regulated by a negative feedback mechanism through sterols and non-sterol metabolites derived frommevalonate. Inhibited by statins, a class of hypolipidemic agents used as pharmaceuticals to lower cholesterol levelsin individuals at risk from cardiovascular disease due to hypercholesterolemia. Inhibition of HMGCR in the liverstimulates the LDL-receptors, which results in an increased clearance of LDL from the bloodstream and a decrease inblood cholesterol levels. The first results can be seen after one week of statin use and the effect is maximal afterfour to six weeks Genatlas biochemistry entry for HMGCR:3-hydroxy-3-methylglutaryl-CoA reductase,catalyzing a rate-limiting step in cholesterol biosynthesis
Enzyme Numbers (IUBMB): EC 1.1.1.341 2 EC 1.1.12
Clone
Products: |  | Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore | |  | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for HMGCR (see all 4)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for HMGCR (see all 2)
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling 
| |  | GenScript: all cDNA clones in your preferred vector (see all 2): HMGCR (NM_000859) | |  | Browse Sino Biological Human cDNA Clones | |  | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for HMGCR | |  | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat HMGCR |
In Situ Assay
Products: |
 | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for HMGCR |
Gene Ontology (GO): 5 molecular function terms (GO ID links to tree view): About this table
HMGCR for ontologies About GeneDecksing
Animal Models:
Mouse knock-out Hmgcrtm1Ishi for HMGCR
2 MGI mutant phenotypes (inferred from 1 allele ) (MGI details for Hmgcr):
HMGCR for phenotypes About GeneDecksing
|
Pathways & Interactions
for HMGCR gene
(Pathways according to
EMD Millipore,
R&D Systems,
Cell Signaling Technology,
KEGG,
PharmGKB,
BioSystems,
Reactome,
Tocris Bioscience,
GeneGo (Thomson Reuters),
QIAGEN,
and/or UniProtKB,
Sets of similar genes according to GeneDecks,
Interaction Networks according to
SABiosciences,
and/or STRING,
Interactions according to 1UniProtKB,
2MINT,
3I2D, and/or
4STRING,
with links to IntAct and
Ensembl,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene).
About This Section
|
Unified GeneCards pathways - 5/15 super-pathways (see all 15) About this table
See pathways by source
| Super-pathway | contained gene-specific pathways |
|---|
| 1 | Regulation of Lipid Metabolism by Peroxisome proliferator-activated receptor alpha (PPARalpha) | | | 2 | Regulation of Cholesterol Biosynthesis by SREBP (SREBF) | | | 3 | Metabolism | | | 4 | superpathway of geranylgeranyldiphosphate biosynthesis I (via mevalonate) | | | 5 | Cholesterol biosynthesis | |
Pathway sources
See GeneCards unified pathways
Show all pathways
2 EMD Millipore Pathways for HMGCR
1 Downloadable PowerPoint Slide of QIAGEN Pathway Central Maps for HMGCR
5/8  BioSystems Pathways for HMGCR (see all 8)
5/9 
Reactome Pathways for HMGCR (see all 9)
3  PharmGKB Pathways for HMGCR
3 
Kegg Pathways (Kegg details for HMGCR):
UniProtKB/Swiss-Prot: HMDH_HUMAN, P04035Pathway: Metabolic intermediate biosynthesis; (R)-mevalonate biosynthesis; (R)-mevalonate from acetyl-CoA: step 3/3
HMGCR for pathways About GeneDecksing
Interactions:
Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for HMGCR
STRING Interaction
Network Preview (showing 5 interactants - click image to see 25)
5/97 Interacting proteins for HMGCR (P040353 ENSP000002879364) via UniProtKB, MINT, STRING, and/or I2D (see all 97)
About this table
Gene Ontology (GO): 5/23 biological process terms (GO ID links to tree view) (see all 23): About this table
HMGCR for ontologies About GeneDecksing
|
Drugs & Compounds
for HMGCR gene(Chemical Compounds according to UniProtKB, Enzo Life Sciences,
EMD Millipore, Tocris Bioscience
HMDB,
BitterDB, and/or
Novoseek, and Drugs according to
DrugBank,
Enzo Life Sciences, and/or
PharmGKB, with drugs/clinical trials/news
search links to CenterWatch)
About This Section
|
HMGCR for compounds About GeneDecksing
 |
Enzo Life Sciences drugs & compounds for HMGCR |
Compounds for HMGCR available from Tocris Bioscience About this table
8 HMDB Compounds for HMGCR About this table
10/16 DrugBank Compounds for HMGCR (see all 16) About this table
10/134 Novoseek chemical compound relationships for HMGCR gene (see all 134) About this table
| Compound |
-log (P-Val) |
Hits |
PubMed IDs for Articles with Shared Sentences (# sentences) |
| simvastatin |
95.9 |
368 |
1627634 (5), 2083515 (4), 2077527 (3), 8521762 (3) (see all 99) |
| pravastatin |
95.6 |
259 |
8318553 (2), 8366183 (2), 9542477 (2), 1904355 (2) (see all 99) |
| mevalonate |
95.3 |
226 |
17412884 (3), 1908464 (3), 1524429 (3), 9237866 (2) (see all 99) |
| lovastatin |
95.3 |
267 |
11205904 (4), 12843138 (3), 10146977 (2), 8082513 (2) (see all 99) |
| fluvastatin |
93.4 |
145 |
8882381 (8), 1854361 (3), 7604801 (3), 8198018 (2) (see all 99) |
| atorvastatin |
93.4 |
174 |
9793596 (4), 17651990 (3), 19930424 (3), 9485553 (3) (see all 99) |
| cerivastatin |
92.4 |
84 |
11129127 (5), 14720086 (4), 17151817 (2), 11470741 (2) (see all 59) |
| cholesterol |
92.3 |
1117 |
10170452 (4), 10713930 (4), 10791271 (4), 11716837 (4) (see all 99) |
| 3-hydroxy-3-methylglutaryl-coa |
92.1 |
294 |
2307197 (6), 9441587 (6), 12514264 (6), 7797599 (5) (see all 99) |
| geranylgeranyl pyrophosphate |
89 |
27 |
19464372 (2), 10996358 (1), 11884371 (1), 15850779 (1) (see all 20) |
6 PharmGKB related drug/compound annotations for HMGCR geneAbout this table
Search CenterWatch for drugs/clinical trials and news about HMGCR / HMDH
|
Transcripts
for HMGCR gene(Secondary structures according to
fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or
AceView,
transcript ids from Ensembl
with links to UCSC,
exon structure from GeneLoc,
alternative splicing isoforms according to ASD and/or
ECgene,
RNAi Products from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
shRNA from
OriGene,
microRNA from QIAGEN,
Tagged/untagged cDNA clones from
OriGene,
SwitchGear Genomics,
GenScript,
DNA2.0,
Vector BioLabs,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN
)
About This Section
|
REFSEQ mRNAs for HMGCR gene (2 alternative transcripts): NM_000859.2 NM_001130996.1 Unigene Cluster for HMGCR: 3-hydroxy-3-methylglutaryl-CoA reductase Hs.628096 [show with all ESTs]Unigene Representative Sequence: NM_00085913 Ensembl transcripts including schematic representations, and UCSC links where relevant: ENST00000511206(uc010izn.1) ENST00000287936(uc011cst.2 uc003kdp.3 uc003kdq.3 uc010izo.3 uc010izp.3)
ENST00000343975 ENST00000509431 ENST00000507942 ENST00000442032 ENST00000504466
ENST00000515776 ENST00000508070 ENST00000509085 ENST00000511986 ENST00000514315
ENST00000512053
Clone
Products: | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for HMGCR (see all 4)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for HMGCR (see all 2)
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling
| | | GenScript: all cDNA clones in your preferred vector (see all 2): HMGCR (NM_000859) | | | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for HMGCR | | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat HMGCR |
Additional cDNA sequence: AK292892.1 AK296499.1 AK299655.1 AK312437.1 AY429541.1 AY429542.1 AY429543.1 AY429544.2 BC024180.1 BC033692.1 M11058.1 M62627.1 M62633.1 15 DOTS entries: DT.447815 DT.99928400 DT.100794644 DT.120859642 DT.100794651 DT.97844838 DT.100794648 DT.120859653 DT.40257342 DT.95071605 DT.95071606 DT.95071631 DT.95071640 DT.100794646 DT.97835796 24/342 AceView cDNA sequences (see all 342): AA742174 AA701882 BQ688275 AI962842 BU689867 CB216073 F08041 BQ883696 AA503060 BP351334 AA813890 CK000712 T80866 AA613980 AI961446 AA648735 CK822343 AW974542 BM789419 AI381010 F04434 AL044755 AA577170 BC033692
GeneLoc Exon Structure
5 Alternative Splicing Database (ASD) splice patterns (SP) for HMGCR About this scheme
| ExUns: | 1 | ^ | 2 | ^ | 3 | ^ | 4 | ^ | 5 | ^ | 6 | ^ | 7a | · | 7b | ^ | 8 | ^ | 9 | ^ | 10a | · | 10b | ^ | 11 | ^ | 12 | ^ | 13 | ^ | 14 | ^ | 15 | ^ | 16a | · | 16b | ^ | 17 | ^ | 18a | · | 18b | ^ | 19a | · | 19b | ^ | 20a | · | 20b |
|---|
|
| SP1: | | | | | | | | | | | | | - | | | | | | | | | | | | | | | | - | | | | | | | | | | | | | | - | | - | | | | | | | | |
| SP2: | | | | | | | | | | | | | - | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | - | | - | | | | | | | | |
| SP3: | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | |
| SP4: | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | |
| SP5: | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | |
ECgene alternative splicing isoforms for HMGCR
|
Expression
for HMGCR gene
(RNA expression data according to
H-InvDB,
NONCODE,
miRBase, and
RNAdb,
Expression images according to data from
BioGPS,
Illumina Human BodyMap, and
CGAP
SAGE,
Sets of similar genes according to GeneDecks,
in vivo and in vitro expression data from LifeMap Discovery™,
plus additional links to
Genevestigator, and/or
SOURCE, and/or
BioGPS, and/or
UniProtKB,
PCR Arrays from
SABiosciences,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN,
In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section
| HMGCR expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: GAAGTGGCAG
About this image
See HMGCR Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for HMGCR
SOURCE GeneReport for Unigene cluster: Hs.628096
SABiosciences Expression via Pathway-Focused PCR Arrays including HMGCR:
Primer
Products: | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for HMGCR
Browse OriGene validated miRNA SYBR primer pairs
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Assay Products: |
| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for HMGCR |
Orthologs
for HMGCR gene
(Orthologs according to
1,2HomoloGene (2older version, for species not in 1newer version),
3euGenes,
4SGD
,
5MGI Mar 06 2013,
with possible further links to
Flybase
and/or
WormBase,
and/or
6Ensembl pan taxonomic compara ,
Gene Trees according to Ensembl and
TreeFam)
About This Section
|
This gene was present in the common ancestor of eukaryotes.
Orthologs for HMGCR gene from 10/38 species (see all 38) About this table
| Organism |
Taxonomic
classification |
Gene |
Description |
Human
Similarity |
Orthology
Type |
Details |
mouse
(Mus musculus) |
Mammalia |
Hmgcr1 , 5 |
3-hydroxy-3-methylglutaryl-Coenzyme A reductase1, 5 |
86.55(n)1
93.57(a)1 |
|
13 (50.65 cM)5
153571 NM_008255.21 NP_032281.21
966489675 |
chicken
(Gallus gallus) |
Aves |
HMGCR1 |
3-hydroxy-3-methylglutaryl-CoA reductase |
79.09(n)
86.29(a) |
|
395145 NM_204485.1 NP_989816.1 |
lizard
(Anolis carolinensis) |
Reptilia |
HMGCR6 |
-- |
85(a) |
1 ↔ 1 |
2(14889001-14905032) |
African clawed frog
(Xenopus laevis) |
Amphibia |
LOC3977502 |
X.laevis 3-hydroxy-3-methylglutaryl-coenzyme A reductase |
77.06(n) |
|
M29258.1 |
zebrafish
(Danio rerio) |
Actinopterygii |
hmgcra1 |
3-hydroxy-3-methylglutaryl-Coenzyme A reductase a |
70.29(n)
78.34(a) |
|
559054 NM_001079977.1 NP_001073446.1 |
fruit fly
(Drosophila melanogaster) |
Insecta |
Hmgcr1 , 3 |
germ-cell migration
hydroxymethylglutaryl-CoA more3
HMG Coenzyme A reductase1 |
44(a)3
53.29(n)1
50.9(a)1 |
|
3 95B13
428031 NM_170089.11 NP_732900.11 |
worm
(Caenorhabditis elegans) |
Secernentea |
F08F8.23
hmgr-11 |
Hydroxymethylglutaryl-coA reductase3
Protein HMGR-11 |
46(a)3
54(n)1
48.16(a)1 |
|
III(7430911-7433596)3
1760471 NM_066225.41 NP_498626.21 |
baker's yeast
(Saccharomyces cerevisiae) |
Saccharomycetes |
HMG2(YLR450W)4
HMG11 |
One of two isozymes of HMG-CoA reductase that convert more4
Hmg1p1 |
49.83(n)1
43.45(a)1 |
|
12(1032627-1035764)4
8549001 NP_013636.11 8511714
NP_013555.14 |
thale cress
(Arabidopsis thaliana) |
eudicotyledons |
HMG11 |
hydroxy methylglutaryl CoA reductase 1 |
59.33(n)
57.18(a) |
|
843982 NM_106299.3 NP_177775.2 |
rice
(Oryza sativa) |
Liliopsida |
Os.1642 |
Oryza sativa (japonica cultivar-group) cDNA cloneJ more |
73.22(n) |
|
AK069555.1 |
ENSEMBL Gene Tree for HMGCR (if available)
TreeFam Gene Tree for HMGCR (if available) |
Paralogs
for HMGCR gene(Paralogs according to
1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
About This Section
| -- |
Genomic Variants
for HMGCR gene(SNPs/Variants according to the
1NCBI SNP Database,
2Ensembl,
3PupaSUITE,
UniProtKB, and
DNA2.0,
Linkage Disequilibrium by HapMap,
Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene
Mutation Database (HGMD) and the Locus Specific Mutation
Databases (LSDB), Blood group antigen gene mutations by BGMUT,
Resequencing Primers from QIAGEN,
Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section
|
| Genomic Data | Transcription Related Data | Allele Frequencies | | SNP ID | Valid | Clinical
significance | Chr 5 pos | Sequence | # | AA
Chg | Type | More | # | Allele
freq | Pop | Total
sample | More |
|---|
HapMap Linkage Disequilibrium report for HMGCR (74632154 - 74657929 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV) variations for HMGCR: --
Human Gene Mutation Database (HGMD): HMGCR
| SABiosciences Cancer Mutation PCR Assays |
| | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing HMGCR |
|
Disorders
/ Diseases
for HMGCR gene
(in which this Gene is Involved, According to MalaCards,
OMIM, UniProtKB,
the University of Copenhagen DISEASES
database, Novoseek,
Genatlas, GeneTests,
GAD,
HuGE Navigator,
and/or TGDB.)
About This Section
|
HMGCR for disorders About GeneDecksing
OMIM gene information: 142910
OMIM disorders: --
20/172  diseases for HMGCR (see all 172): About MalaCardssmith-lemli-opitz syndrome creatine phosphokinase, elevated serum low density lipoprotein cholesterol level qtl 3 statins, attenuated cholesterol lowering by
defective apolipoprotein b-100 creatine phosphokinase cholesterol cholesteryl ester storage disease
hyperlipoproteinemia type iii atherosclerosis porphyria cutanea tarda obsessive-compulsive disorder
cerebrotendinous xanthomatosis patent ductus arteriosus hyperlipoproteinemia xanthomatosis
myocardial infarction abdominal aortic aneurysm sitosterolemia atrial fibrillation
1 disease from the University of Copenhagen DISEASES database for HMGCR:Mevalonic aciduria 10/95 Novoseek disease relationships for HMGCR gene (see all 95) About this table
| Disease |
-log (P-Val) |
Hits |
PubMed IDs for Articles with Shared Sentences (# sentences) |
| hypercholesterolemia |
90.7 |
260 |
11794823 (3), 10791271 (3), 8520093 (3), 8882381 (3) (see all 99) |
| rhabdomyolysis |
81.8 |
61 |
12841814 (2), 11773716 (2), 11573861 (2), 7873090 (2) (see all 54) |
| hyperlipidemia |
79.9 |
74 |
9110123 (4), 10356659 (4), 9801932 (3), 10999499 (2) (see all 59) |
| dyslipidemia |
79.2 |
67 |
15285698 (2), 2149540 (2), 8595642 (2), 15725039 (2) (see all 58) |
| coronary heart disease |
77.5 |
74 |
1899896 (2), 8983865 (2), 9202359 (2), 9674175 (2) (see all 64) |
| atherosclerosis |
76.4 |
64 |
8913414 (2), 9683927 (2), 7604791 (1), 9537338 (1) (see all 56) |
| hypercholesterolemia familial |
74.1 |
20 |
1814804 (2), 2312032 (1), 1987991 (1), 1412289 (1) (see all 19) |
| myopathy |
74.1 |
49 |
19078619 (4), 8725265 (2), 12241128 (2), 9300786 (1) (see all 39) |
| cardiovascular diseases |
72.2 |
72 |
15962651 (2), 10912119 (1), 11228171 (1), 15922259 (1) (see all 68) |
| coronary artery disease |
68.9 |
81 |
9248989 (6), 10713930 (2), 10559508 (2), 14727930 (2) (see all 69) |
Genetic Association Database (GAD): HMGCR
Human Genome Epidemiology (HuGE) Navigator: HMGCR (58 documents)
Export disorders for HMGCR gene to outside databases
|
Publications
for HMGCR gene (in
PubMed.
Associations of this gene to articles via
1Entrez Gene,
2UniProtKB/Swiss-Prot,
3HGNC,
4GAD,
5PharmGKB,
6HMDB,
7DrugBank,
8UniProtKB/TrEMBL,
9 Novoseek, and/or
10fRNAdb)
About This Section
|
PubMed articles for HMGCR gene, integrated from 9 sources (see all 2068):
(articles sorted by number of sources associating them with HMGCR) | |  | Utopia: connect your pdf to the dynamic
world of online information |
- Accelerated degradation of HMG CoA reductase mediated by binding of insig-1 to its sterol-sensing domain. (PubMed id 12535518)1, 2, 9 Sever N.... DeBose-Boyd R.A. (2003)
- Dislocation of HMG-CoA reductase and Insig-1, two pol ytopic endoplasmic reticulum proteins, en route to proteasomal degradation. (PubMed id 19458199)1, 2, 9 Leichner G.S....Roitelman J. (2009)
- 8302A/C and (TTA)n polymorphisms in the HMG-CoA reductase gene may be associated with some plasma lipid metabolic phenotypes in patients with coronary heart disease. (PubMed id 15233402)1, 4, 9 Tong Y....Shi J.J. (2004)
- Structural mechanism for statin inhibition of HMG-CoA reductase. (PubMed id 11349148)1, 2, 9 Istvan E.S. and Deisenhofer J. (2001)
- Metabolically regulated endoplasmic reticulum-associa ted degradation of 3-hydroxy-3-methylglutaryl-CoA reductase: evidence for requi rement of a geranylgeranylated protein. (PubMed id 21778231)1, 2 Leichner G.S....Roitelman J. (2011)
- Pharmacogenetic study of statin therapy and cholesterol reduction. (PubMed id 15199031)1, 4 Chasman D.I....Ridker P.M. (2004)
- The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
- [Association of HMG-CoA reductase gene polymorphism with levels of lipids] (PubMed id 12778445)1, 4 Tong Y....Zhang K.L. (2003)
- Crystal structure of the catalytic portion of human HMG-CoA reductase: insights into regulation of activity and catalysis. (PubMed id 10698924)1, 2 Istvan E.S.... Deisenhofer J. (2000)
- Characterization of single-nucleotide polymorphisms in coding regions of human genes. (PubMed id 10391209)1, 2 Cargill M....Lander E.S. (1999)
|
External Searches for HMGCR gene
(in PubMed,
OMIM, and NCBI Bookshelf)
About This Section
|
|
Genome Databases showing HMGCR gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
About This Section
|
|
Other Databases showing HMGCR gene
(According to HUGE)
About This Section
| -- |
Specialized Databases showing HMGCR gene(According to PharmGKB,
ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section
|
| Name | Description |
| PharmGKB entry for HMGCR | Pharmacogenomics, SNPs, Pathways |
|
| | |
About This Section
| Patent Information for HMGCR gene:
Search GeneIP for patents involving HMGCR
GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
|
Products
for HMGCR gene(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or
Enzo Life Sciences),
In Situ Hybridization Assays from
Advanced Cell Diagnostics
About This Section
|
 | |
 | |
 |
| | |  | Browse OriGene Antibodies | | OriGene shRNA RFP for HMGCR | | | OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for HMGCR | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for HMGCR | | | Browse OriGene Protein Over-expression Lysates | | Browse OriGene Fluorogenic Cell Assay Kits | | | OriGene siRNA for HMGCR | | OriGene 3'-UTR Clone for HMGCR | | | OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for HMGCR | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for HMGCR | | | Browse OriGene GFP tagged cDNA clones in CMV expression vector | | Browse OriGene MicroRNA Expression Plasmids | | | Browse OriGene basic RS shRNAs | | Browse OriGene validated miRNA SYBR primer pairs | | | Browse OriGene full length recombinant human proteins expressed in human HEK293 cells | | OriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling | | | OriGene Custom Antibody Services for HMGCR | | OriGene Custom Protein Services for HMGCR | | | OriGene Custom Immunoassay Development | | |
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| | | | | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for HMGCR |
|  |  |  | | | | Search ThermoFisher Antibodies for HMGCR |
| | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat HMGCR |
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