ENSMUSG00000021670


Mus musculus

Features
Gene ID: ENSMUSG00000021670
  
Biological name :Hmgcr
  
Synonyms : 3-hydroxy-3-methylglutaryl-coenzyme A reductase / Hmgcr / Q01237
  
Possible biological names infered from orthology : 3-hydroxy-3-methylglutaryl-CoA reductase / P04035
  
Species: Mus musculus
  
Chr. number: 13
Strand: -1
Band: D1
Gene start: 96648967
Gene end: 96670936
  
Corresponding Affymetrix probe sets: 10411332 (MoGene1.0st)   1427229_at (Mouse Genome 430 2.0 Array)   1451766_at (Mouse Genome 430 2.0 Array)   
  
Cross references: Ensembl peptide - ENSMUSP00000128294
Ensembl peptide - ENSMUSP00000132749
Ensembl peptide - ENSMUSP00000132155
Ensembl peptide - ENSMUSP00000128939
Ensembl peptide - ENSMUSP00000128642
Ensembl peptide - ENSMUSP00000022176
Ensembl peptide - ENSMUSP00000126087
Ensembl peptide - ENSMUSP00000126959
NCBI entrez gene - 15357     See in Manteia.
MGI - MGI:96159
RefSeq - NM_008255
RefSeq - XM_006517530
RefSeq - XM_006517531
RefSeq Peptide - NP_032281
swissprot - F6X166
swissprot - E9Q5H3
swissprot - Q01237
swissprot - F7CA39
swissprot - E9Q149
swissprot - E9PY17
swissprot - E9PVG9
swissprot - F2Z470
Ensembl - ENSMUSG00000021670
  
See expression report in BioGPS
See gene description in Wikigenes
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 hmgcraENSDARG00000052734Danio rerio
 HMGCRENSGALG00000014948Gallus gallus
 HMGCRENSG00000113161Homo sapiens


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
Scap / Q6GQT6 / SREBF chaperone / Q12770*ENSMUSG0000003248517


Protein motifs (from Interpro)
Interpro ID Name
 IPR000731  Sterol-sensing domain
 IPR002202  Hydroxymethylglutaryl-CoA reductase, class I/II
 IPR004554  Hydroxymethylglutaryl-CoA reductase, eukaryotic/archaeal type
 IPR004816  Hydroxymethylglutaryl-CoA reductase, metazoan
 IPR009023  Hydroxymethylglutaryl-CoA reductase, class I/II, NAD/NADP-binding domain superfamily
 IPR009029  Hydroxymethylglutaryl-CoA reductase, class I/II, substrate-binding domain superfamily
 IPR023074  Hydroxymethylglutaryl-CoA reductase, class I/II, catalytic domain superfamily
 IPR023076  Hydroxymethylglutaryl-CoA reductase, class I/II, conserved site
 IPR023282  Hydroxymethylglutaryl-CoA reductase, N-terminal


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0006629 lipid metabolic process IEA
 biological_processGO:0006694 steroid biosynthetic process IEA
 biological_processGO:0006695 cholesterol biosynthetic process ISO
 biological_processGO:0006743 ubiquinone metabolic process IEA
 biological_processGO:0007568 aging IEA
 biological_processGO:0007584 response to nutrient IEA
 biological_processGO:0008202 steroid metabolic process IEA
 biological_processGO:0008203 cholesterol metabolic process IEA
 biological_processGO:0008284 positive regulation of cell proliferation IEA
 biological_processGO:0008299 isoprenoid biosynthetic process IEA
 biological_processGO:0008542 visual learning IGI
 biological_processGO:0010664 negative regulation of striated muscle cell apoptotic process IEA
 biological_processGO:0010666 positive regulation of cardiac muscle cell apoptotic process IEA
 biological_processGO:0015936 coenzyme A metabolic process IEA
 biological_processGO:0016126 sterol biosynthetic process IEA
 biological_processGO:0032874 positive regulation of stress-activated MAPK cascade IEA
 biological_processGO:0043066 negative regulation of apoptotic process IEA
 biological_processGO:0043407 negative regulation of MAP kinase activity IGI
 biological_processGO:0045445 myoblast differentiation IEA
 biological_processGO:0045471 response to ethanol IEA
 biological_processGO:0048643 positive regulation of skeletal muscle tissue development IEA
 biological_processGO:0048661 positive regulation of smooth muscle cell proliferation IEA
 biological_processGO:0051262 protein tetramerization IEA
 biological_processGO:0055114 oxidation-reduction process IEA
 biological_processGO:0061045 negative regulation of wound healing IEA
 biological_processGO:0061179 negative regulation of insulin secretion involved in cellular response to glucose stimulus IEA
 biological_processGO:0070374 positive regulation of ERK1 and ERK2 cascade IEA
 biological_processGO:0097756 negative regulation of blood vessel diameter IEA
 cellular_componentGO:0005778 peroxisomal membrane IEA
 cellular_componentGO:0005783 endoplasmic reticulum IEA
 cellular_componentGO:0005789 endoplasmic reticulum membrane IEA
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0016021 integral component of membrane IEA
 cellular_componentGO:0043231 intracellular membrane-bounded organelle IEA
 molecular_functionGO:0004420 hydroxymethylglutaryl-CoA reductase (NADPH) activity IEA
 molecular_functionGO:0016491 oxidoreductase activity IEA
 molecular_functionGO:0016616 oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor IEA
 molecular_functionGO:0042282 hydroxymethylglutaryl-CoA reductase activity IEA
 molecular_functionGO:0042803 protein homodimerization activity IEA
 molecular_functionGO:0050661 NADP binding IEA
 molecular_functionGO:0050662 coenzyme binding IEA
 molecular_functionGO:0051721 protein phosphatase 2A binding IEA
 molecular_functionGO:0070402 NADPH binding IEA


Pathways (from Reactome)
Pathway description
Cholesterol biosynthesis


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 MP:0000182 increased circulating LDL cholesterol level "greater than average concentration in the blood of low density lipoprotein, which normally transports cholesterol to tissues other than the liver" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
Show

Allelic Composition: Hmgcrtm2Ishi/Hmgcrtm2Ishi
Genetic Background: involves: 129S7/SvEvBrd * C57BL/6J

 MP:0000183 decreased circulating LDL cholesterol level "less than average concentration in the blood of low density lipoprotein, which normally transports cholesterol to tissues other than the liver" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
Show

Allelic Composition: Hmgcrtm2Ishi/Hmgcrtm2Ishi
Genetic Background: involves: 129S7/SvEvBrd * C57BL/6J

 MP:0000189 hypoglycemia "low levels of plasma glucose in the circulating blood; this generally refers to a pathological state" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8]
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Allelic Composition: Hmgcrtm2Ishi/Hmgcrtm2Ishi
Genetic Background: involves: 129S7/SvEvBrd * C57BL/6J

 MP:0000599 enlarged liver "larger than average size of the liver" [J:65146]
Show

Allelic Composition: Hmgcrtm2Ishi/Hmgcrtm2Ishi
Genetic Background: involves: 129S7/SvEvBrd * C57BL/6J

 MP:0000603 pale liver "liver lacking normal coloration, often refers to bloodless condition" [J:18048]
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Allelic Composition: Hmgcrtm2Ishi/Hmgcrtm2Ishi
Genetic Background: involves: 129S7/SvEvBrd * C57BL/6J

 MP:0000609 abnormal liver physiology "aberrant function of this bile-secreting exocrine gland, which is important for detoxification; for fat, carbohydrate, and protein metabolism; and for glycogen storage " [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator, Stedman s Medical Dictionary:ISBN 0-683-40008-8]
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Allelic Composition: Hmgcrtm2Ishi/Hmgcrtm2Ishi
Genetic Background: involves: 129S7/SvEvBrd * C57BL/6J

 MP:0000611 jaundice "clinical manifestation of hyperbilirubinemia, with deposition of bile pigments in the skin, resulting in yellowish staining of the skin and mucous membranes" [MeSH:National Library of Medicine - Medical Subject Headings , 2003]
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Allelic Composition: Hmgcrtm2Ishi/Hmgcrtm2Ishi
Genetic Background: involves: 129S7/SvEvBrd * C57BL/6J

 MP:0001263 weight loss "progressive reduction of body weight below normal average for age" [J:45400]
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Allelic Composition: Hmgcrtm2Ishi/Hmgcrtm2Ishi
Genetic Background: involves: 129S7/SvEvBrd * C57BL/6J

 MP:0001554 increased circulating free fatty acid level "higher than normal levels of unesterified fatty acids in the blood" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:65146]
Show

Allelic Composition: Hmgcrtm2Ishi/Hmgcrtm2Ishi
Genetic Background: involves: 129S7/SvEvBrd * C57BL/6J

 MP:0001654 hepatic necrosis "pathologic death of cells within, or a portion of, the liver" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
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Allelic Composition: Hmgcrtm2Ishi/Hmgcrtm2Ishi
Genetic Background: involves: 129S7/SvEvBrd * C57BL/6J

 MP:0002083 premature death "death after 3 weeks of age, but before normal life span" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Hmgcrtm2Ishi/Hmgcrtm2Ishi
Genetic Background: involves: 129S7/SvEvBrd * C57BL/6J

 MP:0002169 no phenotype detected "normal, viable and fertile appearance and behavior; indistinguishable from controls" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
Show

Allelic Composition: EgfrMhdadsk5/Egfr+
Genetic Background: C3HeB/FeJ-EgfrMhdadsk5/Ieg

Allelic Composition: Hmgcrtm2Ishi/Hmgcrtm2Ishi
Genetic Background: involves: 129S7/SvEvBrd * C57BL/6J

 MP:0002628 fatty liver "an accumulation of fat deposits in the liver " [pvb:Pierre Vanden Borre , Mouse Genome Informatics Curator]
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Allelic Composition: Hmgcrtm2Ishi/Hmgcrtm2Ishi
Genetic Background: involves: 129S7/SvEvBrd * C57BL/6J

 MP:0002644 decreased circulating triglyceride level "lower than normal concentration of triacylglycerols in the blood" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, pvb:Pierre Vanden Borre , Mouse Genome Informatics Curator]
Show

Allelic Composition: Hmgcrtm2Ishi/Hmgcrtm2Ishi
Genetic Background: involves: 129S7/SvEvBrd * C57BL/6J

 MP:0002941 increased circulating alanine transaminase level "increased concentration in the blood of this enzyme, which transfers amino groups from l-alanine to 2 ketoglutarate, or the reverse (from l-glutamate to pyruvate); serum concentration is increased in viral hepatitis and myocardial infarction" [pvb:Pierre Vanden Borre , Mouse Genome Informatics Curator, Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8]
Show

Allelic Composition: Hmgcrtm2Ishi/Hmgcrtm2Ishi
Genetic Background: involves: 129S7/SvEvBrd * C57BL/6J

 MP:0002981 increased liver weight "a greater than average weight of the bile-secreting exocrine gland" [il:Ira Lu , Mouse Genome Informatics Curator]
Show

Allelic Composition: Hmgcrtm2Ishi/Hmgcrtm2Ishi
Genetic Background: involves: 129S7/SvEvBrd * C57BL/6J

 MP:0003326 liver failure "cessation of function of this bile-secreting exocrine gland, which is important for detoxification; for fat, carbohydrate, and protein metabolism; and for glycogen storage " [MeSH:National Library of Medicine - Medical Subject Headings , 2003, ncbi:Matthew Mailman, NCBI request]
Show

Allelic Composition: Hmgcrtm2Ishi/Hmgcrtm2Ishi
Genetic Background: involves: 129S7/SvEvBrd * C57BL/6J

 MP:0003980 increased circulating phospholipid level "greater concentration in the blood of the fat derivatives in which one fatty acid has been replaced by a phosphate group" [RGD:Rat Genome Database submission, smb:Susan M Bello, Mouse Genome Informatics Curator]
Show

Allelic Composition: Hmgcrtm2Ishi/Hmgcrtm2Ishi
Genetic Background: involves: 129S7/SvEvBrd * C57BL/6J

 MP:0005178 increased total circulating cholesterol level "greater than the normal concentration in the blood of these most abundant steroids in animal tissues, and precursors to steroid hormones and bile salts; also components of plasma membranes" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
Show

Allelic Composition: Hmgcrtm2Ishi/Hmgcrtm2Ishi
Genetic Background: involves: 129S7/SvEvBrd * C57BL/6J

 MP:0005179 decreased total circulating cholesterol level "less than the normal concentration in the blood of these most abundant steroids in animal tissues, and precursors to steroid hormones and bile salts; also components of plasma membranes" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
Show

Allelic Composition: Hmgcrtm2Ishi/Hmgcrtm2Ishi
Genetic Background: involves: 129S7/SvEvBrd * C57BL/6J

 MP:0005281 increased fatty acid level "higher than normal non-circulating level of organic, monobasic acids derived from hydrocarbons; they are saturated and unsaturated" [MeSH:National Library of Medicine - Medical Subject Headings , 2003]
Show

Allelic Composition: Hmgcrtm2Ishi/Hmgcrtm2Ishi
Genetic Background: involves: 129S7/SvEvBrd * C57BL/6J

 MP:0005283 increased unsaturated fatty acid level "greater than normal non-circulating level of organic, monobasic acids derived from hydrocarbons in which the carbon chain has one or more double or triple carbon-carbon bonds " [MeSH:National Library of Medicine - Medical Subject Headings , 2003]
Show

Allelic Composition: Hmgcrtm2Ishi/Hmgcrtm2Ishi
Genetic Background: involves: 129S7/SvEvBrd * C57BL/6J

 MP:0005343 increased circulating aspartate transaminase level "greater than normal concentration in the blood of this enzyme, which catalyzes the reversible transfer of an amine group from l-glutamic acid to oxaloacetic acid, forming alpha-ketoglutaric acid and l-aspartic acid; aids in diagnosis of viral hepatitis and myocardial infarction" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, pvb:Pierre Vanden Borre , Mouse Genome Informatics Curator, J:85204]
Show

Allelic Composition: Hmgcrtm2Ishi/Hmgcrtm2Ishi
Genetic Background: involves: 129S7/SvEvBrd * C57BL/6J

 MP:0005344 increased circulating bilirubin level "greater than the normal concentration in the blood of this yellow heme breakdown product" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, pvb:Pierre Vanden Borre , Mouse Genome Informatics Curator, J:85204]
Show

Allelic Composition: Hmgcrtm2Ishi/Hmgcrtm2Ishi
Genetic Background: involves: 129S7/SvEvBrd * C57BL/6J

 MP:0008986 abnormal liver parenchyma morphology "any structural anomaly of the functional units of the liver including the lobules" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Hmgcrtm2Ishi/Hmgcrtm2Ishi
Genetic Background: involves: 129S7/SvEvBrd * C57BL/6J

 MP:0009355 increased liver triglyceride level "higher than normal concentration of triacylglycerols in the liver" [MGI:smb "Susan M. Bello, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Hmgcrtm2Ishi/Hmgcrtm2Ishi
Genetic Background: involves: 129S7/SvEvBrd * C57BL/6J

 MP:0010026 decreased liver cholesterol level "less than normal amount in the liver of the principal sterol of vertebrates and the precursor of many steroids, including bile acids and steroid hormones; it is a component of the plasma membrane lipid bilayer and of plasma lipoproteins and can be found in all animal tissues" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Hmgcrtm2Ishi/Hmgcrtm2Ishi
Genetic Background: involves: 129S7/SvEvBrd * C57BL/6J

 MP:0010330 abnormal circulating lipoprotein level "any anomaly in the concentration in the blood of any complex or compound containing both lipid and protein, are important components of biological membranes and myelin, and participate in lipid transport" [ISBN:0-683-40008-8 "Stedman s Medical Dictionary, 27th edition"]
Show

Allelic Composition: Hmgcrtm2Ishi/Hmgcrtm2Ishi
Genetic Background: involves: 129S7/SvEvBrd * C57BL/6J

 MP:0010332 abnormal circulating apolipoprotein level "anomaly in the amount in the blood of a protein that is frequently a component of a lipoprotein complex" [ISBN:0-683-40008-8 "Stedman s Medical Dictionary, 27th edition"]
Show

Allelic Composition: Hmgcrtm2Ishi/Hmgcrtm2Ishi
Genetic Background: involves: 129S7/SvEvBrd * C57BL/6J

 MP:0011086 partial postnatal lethality "the appearance of lower than Mendelian ratios of organisms of a given genotype due to death of some, but not all of the organisms anytime between the neonatal period and weaning age (Mus: P1 to approximately 3 weeks of age)" [MGI:csmith]
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Allelic Composition: Hmgcrtm2Ishi/Hmgcrtm2Ishi
Genetic Background: involves: 129S7/SvEvBrd * C57BL/6J

 MP:0011092 complete embryonic lethality "death of all organisms of a given genotype in a population within the embryonic period prior to organogenesis (Mus: prior to E14)" [MGI:csmith]
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Allelic Composition: EgfrMhdadsk5/Egfr+
Genetic Background: C3HeB/FeJ-EgfrMhdadsk5/Ieg

 MP:0020253 increased collagen level "increased level of the main structural protein of the various connective tissues in animals" [GOC:NV, PMID:11704682]
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Allelic Composition: Hmgcrtm2Ishi/Hmgcrtm2Ishi
Genetic Background: involves: 129S7/SvEvBrd * C57BL/6J

  


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSMUSG00000021670 Hmgcr / Q01237 / 3-hydroxy-3-methylglutaryl-coenzyme A reductase / P04035* / 3-hydroxy-3-methylglutaryl-CoA reductase*  / complex






 

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