• Gene id: 3156

Gene Summary

• Gene Symbol: HMGCR   Gene   UCSC   Ensembl
• Aliases: LDLCQ3
• Gene name: 3-hydroxy-3-methylglutaryl-CoA reductase
• Alternate names: 3-hydroxy-3-methylglutaryl-Coenzyme A reductase, 3-hydroxy-3-methylglutaryl CoA reductase (NADPH), HMG-CoA reductase, hydroxymethylglutaryl-CoA reductase,
• Gene location: 5q13.3 (40636718: 40410288)     Exons: 16     NC_000022.11
• Gene summary(Entrez): HMG-CoA reductase is the rate-limiting enzyme for cholesterol synthesis and is regulated via a negative feedback mechanism mediated by sterols and non-sterol metabolites derived from mevalonate, the product of the reaction catalyzed by reductase. Normally
• OMIM: 142910

Protein Summary

• Protein general information: P04035  
  • Name: 3 hydroxy 3 methylglutaryl coenzyme A reductase (HMG CoA reductase) (EC 1.1.1.34)
  • Length: 888  
  • Mass: 97476
• Sequence:

  MLSRLFRMHGLFVASHPWEVIVGTVTLTICMMSMNMFTGNNKICGWNYECPKFEEDVLSSDIIILTITRCIAILY
  IYFQFQNLRQLGSKYILGIAGLFTIFSSFVFSTVVIHFLDKELTGLNEALPFFLLLIDLSRASTLAKFALSSNSQ
  DEVRENIARGMAILGPTFTLDALVECLVIGVGTMSGVRQLEIMCCFGCMSVLANYFVFMTFFPACVSLVLELSRE
  SREGRPIWQLSHFARVLEEEENKPNPVTQRVKMIMSLGLVLVHAHSRWIADPSPQNSTADTSKVSLGLDENVSKR
  IEPSVSLWQFYLSKMISMDIEQVITLSLALLLAVKYIFFEQTETESTLSLKNPITSPVVTQKKVPDNCCRREPML
  VRNNQKCDSVEEETGINRERKVEVIKPLVAETDTPNRATFVVGNSSLLDTSSVLVTQEPEIELPREPRPNEECLQ
  ILGNAEKGAKFLSDAEIIQLVNAKHIPAYKLETLMETHERGVSIRRQLLSKKLSEPSSLQYLPYRDYNYSLVMGA
  CCENVIGYMPIPVGVAGPLCLDEKEFQVPMATTEGCLVASTNRGCRAIGLGGGASSRVLADGMTRGPVVRLPRAC
  DSAEVKAWLETSEGFAVIKEAFDSTSRFARLQKLHTSIAGRNLYIRFQSRSGDAMGMNMISKGTEKALSKLHEYF
  PEMQILAVSGNYCTDKKPAAINWIEGRGKSVVCEAVIPAKVVREVLKTTTEAMIEVNINKNLVGSAMAGSIGGYN
  AHAANIVTAIYIACGQDAAQNVGSSNCITLMEASGPTNEDLYISCTMPSIEIGTVGGGTNLLPQQACLQMLGVQG
  ACKDNPGENARQLARIVCGTVMAGELSLMAALAAGHLVKSHMIHNRSKINLQDLQGACTKKTA

• Structural information:
  • Protein Domains: (61..21-)
    (/note="SSD-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00199"-)
  • Interpro: IPR002202  IPR023074  IPR023076  IPR004554  IPR004816   IPR023282  IPR009023  IPR009029  IPR000731  
  • Prosite: PS00066 PS00318 PS01192 PS50065 PS50156
  • CDD: cd00643
  • PDB: 1DQ8 1DQ9 1DQA 1HW8 1HW9 1HWI 1HWJ 1HWK 1HWL 2Q1L 2Q6B 2Q6C 2R4F 3BGL 3CCT 3CCW 3CCZ 3CD0 3CD5 3CD7 3CDA 3CDB
  • PDBsum: 1DQ8 1DQ9 1DQA 1HW8 1HW9 1HWI 1HWJ 1HWK 1HWL 2Q1L 2Q6B 2Q6C 2R4F 3BGL 3CCT 3CCW 3CCZ 3CD0 3CD5 3CD7 3CDA 3CDB
  • STRING: ENSP00000287936
• Other Databases: GeneCards:  HMGCR  Malacards:  HMGCR

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0042177	negative regulation of protein catabolic process	ISS	biological process
GO:1900222	negative regulation of amyloid-beta clearance	ISS	biological process
GO:0050709	negative regulation of protein secretion	ISS	biological process
GO:0006695	cholesterol biosynthetic process	IDA	biological process
GO:0042282	hydroxymethylglutaryl-CoA reductase activity	IBA	molecular function
GO:0016126	sterol biosynthetic process	IBA	biological process
GO:0005778	peroxisomal membrane	IBA	cellular component
GO:0008299	isoprenoid biosynthetic process	IBA	biological process
GO:0005789	endoplasmic reticulum membrane	IBA	cellular component
GO:0004420	hydroxymethylglutaryl-CoA reductase (NADPH) activity	IBA	molecular function
GO:0004420	hydroxymethylglutaryl-CoA reductase (NADPH) activity	IDA	molecular function
GO:0004420	hydroxymethylglutaryl-CoA reductase (NADPH) activity	IEA	molecular function
GO:0005789	endoplasmic reticulum membrane	IEA	cellular component
GO:0008299	isoprenoid biosynthetic process	IEA	biological process
GO:0015936	coenzyme A metabolic process	IEA	biological process
GO:0050661	NADP binding	IEA	molecular function
GO:0055114	oxidation-reduction process	IEA	biological process
GO:0016616	oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor	IEA	molecular function
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0006695	cholesterol biosynthetic process	IEA	biological process
GO:0055114	oxidation-reduction process	IEA	biological process
GO:0016021	integral component of membrane	IEA	cellular component
GO:0008203	cholesterol metabolic process	IEA	biological process
GO:0006694	steroid biosynthetic process	IEA	biological process
GO:0016126	sterol biosynthetic process	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0008202	steroid metabolic process	IEA	biological process
GO:0006629	lipid metabolic process	IEA	biological process
GO:0016491	oxidoreductase activity	IEA	molecular function
GO:0004420	hydroxymethylglutaryl-CoA reductase (NADPH) activity	IEA	molecular function
GO:0005789	endoplasmic reticulum membrane	TAS	cellular component
GO:0005789	endoplasmic reticulum membrane	TAS	cellular component
GO:0006695	cholesterol biosynthetic process	TAS	biological process
GO:0019216	regulation of lipid metabolic process	TAS	biological process
GO:0045540	regulation of cholesterol biosynthetic process	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0008542	visual learning	IEA	biological process
GO:0043407	negative regulation of MAP kinase activity	IEA	biological process
GO:0050709	negative regulation of protein secretion	IEA	biological process
GO:1900222	negative regulation of amyloid-beta clearance	IEA	biological process
GO:0006743	ubiquinone metabolic process	IEA	biological process
GO:0042282	hydroxymethylglutaryl-CoA reductase activity	IEA	molecular function
GO:0042802	identical protein binding	IEA	molecular function
GO:0048661	positive regulation of smooth muscle cell proliferation	IEA	biological process
GO:0051721	protein phosphatase 2A binding	IEA	molecular function
GO:0061045	negative regulation of wound healing	IEA	biological process
GO:0061179	negative regulation of insulin secretion involved in cellular response to glucose stimulus	IEA	biological process
GO:0070374	positive regulation of ERK1 and ERK2 cascade	IEA	biological process
GO:0097756	negative regulation of blood vessel diameter	IEA	biological process
GO:0004420	hydroxymethylglutaryl-CoA reductase (NADPH) activity	IEA	molecular function
GO:0006695	cholesterol biosynthetic process	IEA	biological process
GO:0042177	negative regulation of protein catabolic process	IEA	biological process
GO:0006695	cholesterol biosynthetic process	IEA	biological process
GO:0007568	aging	IEA	biological process
GO:0007584	response to nutrient	IEA	biological process
GO:0008284	positive regulation of cell population proliferation	IEA	biological process
GO:0008299	isoprenoid biosynthetic process	IEA	biological process
GO:0010664	negative regulation of striated muscle cell apoptotic process	IEA	biological process
GO:0010666	positive regulation of cardiac muscle cell apoptotic process	IEA	biological process
GO:0032874	positive regulation of stress-activated MAPK cascade	IEA	biological process
GO:0043066	negative regulation of apoptotic process	IEA	biological process
GO:0043231	intracellular membrane-bounded organelle	IEA	cellular component
GO:0045445	myoblast differentiation	IEA	biological process
GO:0045471	response to ethanol	IEA	biological process
GO:0048643	positive regulation of skeletal muscle tissue development	IEA	biological process
GO:0005789	endoplasmic reticulum membrane	IEA	cellular component
GO:0120225	coenzyme A binding	IDA	molecular function
GO:0042282	hydroxymethylglutaryl-CoA reductase activity	IDA	molecular function
GO:0005783	endoplasmic reticulum	IDA	cellular component
GO:0070402	NADPH binding	IDA	molecular function
GO:0005778	peroxisomal membrane	IDA	cellular component
GO:0005789	endoplasmic reticulum membrane	TAS	cellular component

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa04152	AMPK signaling pathway
hsa04976	Bile secretion
hsa00900	Terpenoid backbone biosynthesis

Diseases

Associated diseases	References
Muscular disease	PMID:21360500
Alzheimer's disease	PMID:17724290
Dementia	PMID:17640385
Parkinson's disease	PMID:18184918
Asthma	PMID:20084838
Coronary artery disease	PMID:12742282
intermediate coronary syndrome	PMID:18333374
diabetes mellitus	PMID:15476492
type 2 diabetes mellitus	PMID:17870053
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)