ENSG00000113161


Homo sapiens

Features
Gene ID: ENSG00000113161
  
Biological name :HMGCR
  
Synonyms : 3-hydroxy-3-methylglutaryl-CoA reductase / HMGCR / P04035
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 5
Strand: 1
Band: q13.3
Gene start: 75336329
Gene end: 75362104
  
Corresponding Affymetrix probe sets: 202539_s_at (Human Genome U133 Plus 2.0 Array)   202540_s_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000409100
Ensembl peptide - ENSP00000420871
Ensembl peptide - ENSP00000427340
Ensembl peptide - ENSP00000426745
Ensembl peptide - ENSP00000421378
Ensembl peptide - ENSP00000287936
Ensembl peptide - ENSP00000340816
NCBI entrez gene - 3156     See in Manteia.
OMIM - 142910
RefSeq - XM_011543359
RefSeq - NM_000859
RefSeq - NM_001130996
RefSeq - XM_011543357
RefSeq - XM_011543358
RefSeq Peptide - NP_000850
RefSeq Peptide - NP_001124468
swissprot - C9JKX7
swissprot - A0A024RAP2
swissprot - H0Y8F6
swissprot - P04035
swissprot - H0Y8K6
swissprot - D6RIW0
Ensembl - ENSG00000113161
  
Related genetic diseases (OMIM): 142910 - [Low density lipoprotein cholesterol level QTL 3]
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 hmgcraENSDARG00000052734Danio rerio
 HMGCRENSGALG00000014948Gallus gallus
 HmgcrENSMUSG00000021670Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
SCAP / Q12770 / SREBF chaperoneENSG0000011465017


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 IDA
 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 IBA
 biological_processGO:0008542 visual learning IEA
 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:0019216 regulation of lipid metabolic process TAS
 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 IEA
 biological_processGO:0045445 myoblast differentiation IEA
 biological_processGO:0045471 response to ethanol IEA
 biological_processGO:0045540 regulation of cholesterol biosynthetic process TAS
 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 IDA
 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 IDA
 cellular_componentGO:0005783 endoplasmic reticulum IEA
 cellular_componentGO:0005789 endoplasmic reticulum membrane TAS
 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:0005515 protein binding IPI
 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 IDA
 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 IDA


Pathways (from Reactome)
Pathway description
No match


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
No match
  


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSG00000113161 HMGCR / P04035 / 3-hydroxy-3-methylglutaryl-CoA reductase  / complex






 

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