Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
3156
Gene name Gene Name - the full gene name approved by the HGNC.
3-hydroxy-3-methylglutaryl-CoA reductase
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
HMGCR
Synonyms (NCBI Gene) Gene synonyms aliases
LDLCQ3, LGMDR28, MYPLG
Disease Acronyms (UniProt) Disease acronyms from UniProt database
LGMDR28
Chromosome Chromosome number
5
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
5q13.3
Summary Summary of gene provided in NCBI Entrez Gene.
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
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs17244841 A>T Association, drug-response Intron variant
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT016598 hsa-miR-193b-3p Microarray 20304954
MIRT018888 hsa-miR-335-5p Microarray 18185580
MIRT020381 hsa-miR-29c-3p Sequencing 20371350
MIRT028289 hsa-miR-32-5p Sequencing 20371350
MIRT048980 hsa-miR-92a-3p CLASH 23622248
Transcription factors
Transcription factor Regulation Reference
SREBF2 Activation 17448444
SREBF2 Unknown 19288057
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0004420 Function Hydroxymethylglutaryl-CoA reductase (NADPH) activity IBA 21873635
GO:0004420 Function Hydroxymethylglutaryl-CoA reductase (NADPH) activity IDA 21357570
GO:0005515 Function Protein binding IPI 23169578
GO:0005778 Component Peroxisomal membrane IBA 21873635
GO:0005778 Component Peroxisomal membrane IDA 17180682
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
142910 5006 ENSG00000113161
Protein
UniProt ID P04035
Protein name 3-hydroxy-3-methylglutaryl-coenzyme A reductase (HMG-CoA reductase) (EC 1.1.1.34)
Protein function Catalyzes the conversion of (3S)-hydroxy-3-methylglutaryl-CoA (HMG-CoA) to mevalonic acid, the rate-limiting step in the synthesis of cholesterol and other isoprenoids, thus plays a critical role in cellular cholesterol homeostasis (PubMed:21357
PDB 1DQ8 , 1DQ9 , 1DQA , 1HW8 , 1HW9 , 1HWI , 1HWJ , 1HWK , 1HWL , 2Q1L , 2Q6B , 2Q6C , 2R4F , 3BGL , 3CCT , 3CCW , 3CCZ , 3CD0 , 3CD5 , 3CD7 , 3CDA , 3CDB , 8PKN , 8S6B
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF12349 Sterol-sensing 85 235 Sterol-sensing domain of SREBP cleavage-activation Family
PF00368 HMG-CoA_red 491 871 Hydroxymethylglutaryl-coenzyme A reductase Family
Tissue specificity TISSUE SPECIFICITY: [Isoform 1]: Ubiquitously expressed with the highest levels in the cerebellum, fetal brain, testis, skin and adrenal gland. {ECO:0000269|PubMed:22989091}.; TISSUE SPECIFICITY: [Isoform 2]: Detected in the cerebellum, fetal brain, testi
Sequence
MLSRLFRMHGLFVASHPWEVIVGTVTLTICMMSMNMFTGNNKICGWNYECPKFEEDVLSS
DIIILTITRCIAILYIYFQFQNLRQLGSKYILGIAGLFTIFSSFVFSTVVIHFLDKELTG
LNEALPFFLLLIDLSRASTLAKFALSSNSQDEVRENIARGMAILGPTFTLDALVECLVIG
VGTMSGVRQLEIMCCFGCMSVLANYFVFMTFFPACVSLVLELSRESREGRPIWQL
SHFAR
VLEEEENKPNPVTQRVKMIMSLGLVLVHAHSRWIADPSPQNSTADTSKVSLGLDENVSKR
IEPSVSLWQFYLSKMISMDIEQVITLSLALLLAVKYIFFEQTETESTLSLKNPITSPVVT
QKKVPDNCCRREPMLVRNNQKCDSVEEETGINRERKVEVIKPLVAETDTPNRATFVVGNS
SLLDTSSVLVTQEPEIELPREPRPNEECLQILGNAEKGAKFLSDAEIIQLVNAKHIPAYK
LETLMETHERGVSIRRQLLSKKLSEPSSLQYLPYRDYNYSLVMGACCENVIGYMPIPVGV
AGPLCLDEKEFQVPMATTEGCLVASTNRGCRAIGLGGGASSRVLADGMTRGPVVRLPRAC
DSAEVKAWLETSEGFAVIKEAFDSTSRFARLQKLHTSIAGRNLYIRFQSRSGDAMGMNMI
SKGTEKALSKLHEYFPEMQILAVSGNYCTDKKPAAINWIEGRGKSVVCEAVIPAKVVREV
LKTTTEAMIEVNINKNLVGSAMAGSIGGYNAHAANIVTAIYIACGQDAAQNVGSSNCITL
MEASGPTNEDLYISCTMPSIEIGTVGGGTNLLPQQACLQMLGVQGACKDNPGENARQLAR
IVCGTVMAGELSLMAALAAGHLVKSHMIHNR
SKINLQDLQGACTKKTA
Sequence length 888
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG   Reactome
  Terpenoid backbone biosynthesis
Metabolic pathways
AMPK signaling pathway
Bile secretion
  Cholesterol biosynthesis
PPARA activates gene expression
Activation of gene expression by SREBF (SREBP)
EGR2 and SOX10-mediated initiation of Schwann cell myelination
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Autoimmune diseases Autoimmune Diseases rs869025224 23953224
Carcinoma Squamous cell carcinoma rs121912654, rs555607708, rs786202962, rs1564055259 23103227
Hypercholesterolemia Hypercholesterolemia, Hypercholesterolemia, Familial rs28942111, rs28942112, rs137852912, rs121908025, rs28942082, rs28942083, rs121908028, rs121908030, rs28942079, rs28942084, rs121908032, rs387906302, rs387906303, rs121908033, rs121908034
View all (1161 more)
8593127, 12477733
Hyperimmunoglobulinemia Hyperimmunoglobulinemia D rs28934897, rs104895317, rs104895295, rs104895304, rs121917790, rs104895319, rs104895334, rs104895300, rs104895301, rs104895373, rs104895322, rs104895323, rs104895324, rs104895360, rs104895368
View all (25 more)
12477733
Unknown
Disease term Disease name Evidence References Source
Coronary heart disease Coronary heart disease 21347282 ClinVar
Muscular dystrophy muscular dystrophy, limb-girdle, autosomal recessive 28 GenCC
Coronary artery disease Coronary artery disease GWAS
Diabetes Diabetes GWAS
Associations from Text Mining
Disease Name Relationship Type References
Achalasia Addisonianism Alacrimia syndrome Associate 37355634, 38233830
Acute Kidney Injury Stimulate 21799150
Alzheimer Disease Stimulate 19239419
Alzheimer Disease Associate 25023145, 26950278, 27009838, 28438747, 30975575, 36416173, 39201649
Aortic Aneurysm Abdominal Associate 12096274
Aphakia congenital primary Associate 26204136
Arthralgia Stimulate 28129483
Arthritis Rheumatoid Associate 38047111
Asthma Associate 34862478
Atherosclerosis Inhibit 14629460