Details for: HMGCR

Gene ID: 3156

Symbol: HMGCR

Ensembl ID: ENSG00000113161

Description: 3-hydroxy-3-methylglutaryl-CoA reductase

Associated with

Cells (max top 100)

(Marker Score score is uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: cortical cell of adrenal gland (CL0002097)
    Fold Change: 4.79
    Marker Score: 85063
  • Cell Name: glandular epithelial cell (CL0000150)
    Fold Change: 2.09
    Marker Score: 5148
  • Cell Name: hepatoblast (CL0005026)
    Fold Change: 2.04
    Marker Score: 6685
  • Cell Name: Leydig cell (CL0000178)
    Fold Change: 1.8
    Marker Score: 1938
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: 1.73
    Marker Score: 59958
  • Cell Name: neuron (CL0000540)
    Fold Change: 1.47
    Marker Score: 5974
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: 1.38
    Marker Score: 14300
  • Cell Name: Sertoli cell (CL0000216)
    Fold Change: 1.33
    Marker Score: 7908
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: 1.31
    Marker Score: 2026
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 1.3
    Marker Score: 79739
  • Cell Name: chromaffin cell (CL0000166)
    Fold Change: 1.27
    Marker Score: 1791
  • Cell Name: pyramidal neuron (CL0000598)
    Fold Change: 1.21
    Marker Score: 2027
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: 1.18
    Marker Score: 10144
  • Cell Name: type II pneumocyte (CL0002063)
    Fold Change: 1.15
    Marker Score: 7511
  • Cell Name: neural progenitor cell (CL0011020)
    Fold Change: 1.15
    Marker Score: 4457
  • Cell Name: colon epithelial cell (CL0011108)
    Fold Change: 1.14
    Marker Score: 3567
  • Cell Name: near-projecting glutamatergic cortical neuron (CL4023012)
    Fold Change: 1.13
    Marker Score: 10603
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: 1.1
    Marker Score: 644
  • Cell Name: foveolar cell of stomach (CL0002179)
    Fold Change: 1.1
    Marker Score: 7014
  • Cell Name: OFF retinal ganglion cell (CL4023033)
    Fold Change: 1.08
    Marker Score: 453
  • Cell Name: epithelial cell of esophagus (CL0002252)
    Fold Change: 1.08
    Marker Score: 9297
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: 1.07
    Marker Score: 1576
  • Cell Name: pneumocyte (CL0000322)
    Fold Change: 1.06
    Marker Score: 1708
  • Cell Name: inhibitory interneuron (CL0000498)
    Fold Change: 1.03
    Marker Score: 4756
  • Cell Name: kidney distal convoluted tubule epithelial cell (CL1000849)
    Fold Change: 1.03
    Marker Score: 1090
  • Cell Name: ON retinal ganglion cell (CL4023032)
    Fold Change: 1.02
    Marker Score: 280
  • Cell Name: lamp5 GABAergic cortical interneuron (CL4023011)
    Fold Change: 1.02
    Marker Score: 15301
  • Cell Name: vip GABAergic cortical interneuron (CL4023016)
    Fold Change: 1.02
    Marker Score: 38700
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: 1.01
    Marker Score: 9638
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: 1.01
    Marker Score: 1009
  • Cell Name: intestine goblet cell (CL0019031)
    Fold Change: 1.01
    Marker Score: 965
  • Cell Name: caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 1
    Marker Score: 3863
  • Cell Name: cerebral cortex GABAergic interneuron (CL0010011)
    Fold Change: 1
    Marker Score: 71711
  • Cell Name: forebrain radial glial cell (CL0013000)
    Fold Change: 1
    Marker Score: 47936
  • Cell Name: kidney loop of Henle thick ascending limb epithelial cell (CL1001106)
    Fold Change: 0.99
    Marker Score: 2650
  • Cell Name: absorptive cell (CL0000212)
    Fold Change: 0.98
    Marker Score: 30394
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 0.97
    Marker Score: 15128
  • Cell Name: pvalb GABAergic cortical interneuron (CL4023018)
    Fold Change: 0.97
    Marker Score: 35635
  • Cell Name: type A enteroendocrine cell (CL0002067)
    Fold Change: 0.96
    Marker Score: 388
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.94
    Marker Score: 2400
  • Cell Name: oogonial cell (CL0000024)
    Fold Change: 0.94
    Marker Score: 1356
  • Cell Name: kidney collecting duct principal cell (CL1001431)
    Fold Change: 0.94
    Marker Score: 2370
  • Cell Name: kidney connecting tubule epithelial cell (CL1000768)
    Fold Change: 0.94
    Marker Score: 1324
  • Cell Name: Unknown (CL0002371)
    Fold Change: 0.93
    Marker Score: 991
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.93
    Marker Score: 480
  • Cell Name: Purkinje cell (CL0000121)
    Fold Change: 0.93
    Marker Score: 31286
  • Cell Name: BEST4+ intestinal epithelial cell, human (CL4030026)
    Fold Change: 0.92
    Marker Score: 435
  • Cell Name: transit amplifying cell (CL0009010)
    Fold Change: 0.92
    Marker Score: 5250
  • Cell Name: kidney collecting duct intercalated cell (CL1001432)
    Fold Change: 0.92
    Marker Score: 1524
  • Cell Name: neuron associated cell (sensu Vertebrata) (CL0000123)
    Fold Change: 0.92
    Marker Score: 4805
  • Cell Name: keratinocyte (CL0000312)
    Fold Change: 0.91
    Marker Score: 764
  • Cell Name: primordial germ cell (CL0000670)
    Fold Change: 0.9
    Marker Score: 1133.5
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: 0.9
    Marker Score: 2706
  • Cell Name: proerythroblast (CL0000547)
    Fold Change: 0.9
    Marker Score: 610
  • Cell Name: sst GABAergic cortical interneuron (CL4023017)
    Fold Change: 0.9
    Marker Score: 17884
  • Cell Name: cortical thymic epithelial cell (CL0002364)
    Fold Change: 0.9
    Marker Score: 3327
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.87
    Marker Score: 5294
  • Cell Name: peripheral nervous system neuron (CL2000032)
    Fold Change: 0.87
    Marker Score: 978
  • Cell Name: corneal epithelial cell (CL0000575)
    Fold Change: 0.87
    Marker Score: 956
  • Cell Name: GABAergic amacrine cell (CL4030027)
    Fold Change: 0.86
    Marker Score: 1752
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.86
    Marker Score: 308
  • Cell Name: stratified epithelial cell (CL0000079)
    Fold Change: 0.85
    Marker Score: 6640
  • Cell Name: sncg GABAergic cortical interneuron (CL4023015)
    Fold Change: 0.83
    Marker Score: 6333
  • Cell Name: respiratory goblet cell (CL0002370)
    Fold Change: 0.82
    Marker Score: 238
  • Cell Name: oligodendrocyte (CL0000128)
    Fold Change: 0.82
    Marker Score: 1972
  • Cell Name: enterocyte (CL0000584)
    Fold Change: 0.82
    Marker Score: 3948
  • Cell Name: kidney proximal straight tubule epithelial cell (CL1000839)
    Fold Change: 0.81
    Marker Score: 1903
  • Cell Name: P/D1 enteroendocrine cell (CL0002268)
    Fold Change: 0.81
    Marker Score: 300
  • Cell Name: mononuclear cell (CL0000842)
    Fold Change: 0.8
    Marker Score: 259
  • Cell Name: respiratory epithelial cell (CL0002368)
    Fold Change: 0.8
    Marker Score: 440
  • Cell Name: sympathetic neuron (CL0011103)
    Fold Change: 0.79
    Marker Score: 262
  • Cell Name: granulosa cell (CL0000501)
    Fold Change: 0.79
    Marker Score: 7918
  • Cell Name: mucous neck cell (CL0000651)
    Fold Change: 0.79
    Marker Score: 1784
  • Cell Name: primary sensory neuron (sensu Teleostei) (CL0000531)
    Fold Change: 0.78
    Marker Score: 263
  • Cell Name: intestinal epithelial cell (CL0002563)
    Fold Change: 0.78
    Marker Score: 1266
  • Cell Name: chandelier pvalb GABAergic cortical interneuron (CL4023036)
    Fold Change: 0.77
    Marker Score: 3205
  • Cell Name: early T lineage precursor (CL0002425)
    Fold Change: 0.77
    Marker Score: 590
  • Cell Name: renal alpha-intercalated cell (CL0005011)
    Fold Change: 0.77
    Marker Score: 406
  • Cell Name: ependymal cell (CL0000065)
    Fold Change: 0.75
    Marker Score: 263
  • Cell Name: conjunctival epithelial cell (CL1000432)
    Fold Change: 0.75
    Marker Score: 793
  • Cell Name: corneal endothelial cell (CL0000132)
    Fold Change: 0.75
    Marker Score: 435
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.75
    Marker Score: 299
  • Cell Name: acinar cell (CL0000622)
    Fold Change: 0.74
    Marker Score: 523
  • Cell Name: taste receptor cell (CL0000209)
    Fold Change: 0.73
    Marker Score: 630
  • Cell Name: cerebral cortex neuron (CL0010012)
    Fold Change: 0.73
    Marker Score: 2079
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: 0.73
    Marker Score: 465
  • Cell Name: enteroendocrine cell (CL0000164)
    Fold Change: 0.73
    Marker Score: 376
  • Cell Name: kidney capillary endothelial cell (CL1000892)
    Fold Change: 0.72
    Marker Score: 227
  • Cell Name: Cajal-Retzius cell (CL0000695)
    Fold Change: 0.72
    Marker Score: 375
  • Cell Name: oocyte (CL0000023)
    Fold Change: 0.72
    Marker Score: 178
  • Cell Name: lymphoid lineage restricted progenitor cell (CL0000838)
    Fold Change: 0.72
    Marker Score: 432
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 0.71
    Marker Score: 2990.5
  • Cell Name: type G enteroendocrine cell (CL0000508)
    Fold Change: 0.71
    Marker Score: 245
  • Cell Name: kidney collecting duct cell (CL1001225)
    Fold Change: 0.7
    Marker Score: 138
  • Cell Name: lactocyte (CL0002325)
    Fold Change: 0.7
    Marker Score: 11262
  • Cell Name: ciliated columnar cell of tracheobronchial tree (CL0002145)
    Fold Change: 0.7
    Marker Score: 6082
  • Cell Name: hepatocyte (CL0000182)
    Fold Change: 0.7
    Marker Score: 475.5
  • Cell Name: epithelial cell (CL0000066)
    Fold Change: 0.7
    Marker Score: 1107
  • Cell Name: neural cell (CL0002319)
    Fold Change: 0.69
    Marker Score: 334
  • Cell Name: bronchial goblet cell (CL1000312)
    Fold Change: 0.69
    Marker Score: 339

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Other Information

**Key characteristics:** * HMGCR is a key enzyme in the cholesterol biosynthetic pathway. * It is involved in the activation of gene expression by Srebp. * It is expressed in a variety of cell types, including cells of the CNS. * It is involved in the regulation of cholesterol biosynthesis, fatty acid metabolism, and neuronal development. **Pathways and functions:** * HMGCR is involved in the activation of gene expression by the steroid hormone Srebp. * Srebp is a key regulator of gene expression in the CNS. * HMGCR is one of the key enzymes in the Srebp signaling pathway. * It is involved in the regulation of cholesterol biosynthesis, fatty acid metabolism, and neuronal development. **Clinical significance:** * Mutations in HMGCR have been linked to a number of neurodevelopmental disorders, including autism spectrum disorder and schizophrenia. * HMGCR inhibitors are being investigated as potential treatments for these disorders. **Additional notes:** * HMGCR is a highly conserved gene, with a similar gene found in other mammals. * It is expressed in high levels in the brain and other CNS tissues. * It is a key regulator of cholesterol biosynthesis and has been linked to the regulation of lipid metabolism in the brain. * It is also involved in the development of the visual system.

Genular Protein ID: 2759421824

Symbol: HMDH_HUMAN

Name: 3-hydroxy-3-methylglutaryl-coenzyme A reductase

UniProtKB Accession Codes:

P04035 B7Z3Y9 Q8N190

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 BRENDA 1 Bgee 1 BindingDB 1 BioCyc 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 2 CDD 1 CTD 1 ChEBI 12 ChEMBL 1 ChiTaRS 1 DMDM 1 DNASU 1 DisGeNET 1 DisProt 1 DrugBank 20 DrugCentral 1 EC 1 ELM 1 EMBL 17 EPD 1 Ensembl 6 EvolutionaryTrace 1 ExpressionAtlas 1 GO 17 Gene3D 2 GeneCards 1 GeneTree 1 GeneWiki 1 Genevisible 1 GenomeRNAi 1 GlyConnect 1 GlyCosmos 1 GlyGen 1 GuidetoPHARMACOLOGY 1 HGNC 2 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 9 KEGG 1 MANE-Select 1 MIM 4 MassIVE 1 MaxQB 1 MetOSite 1 NCBI Taxonomy 1 NCBIfam 2 OMA 1 OpenTargets 1 Orphanet 1 OrthoDB 1 PANTHER 2 PDB 27 PDBsum 22 PIR 1 PRINTS 1 PRO 1 PROSITE 5 PROSITE-ProRule 3 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 2 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 2 Pumba 1 RNAct 1 Reactome 4 RefSeq 4 Rhea 2 SABIO-RK 1 SIGNOR 1 SMR 1 STRING 1 SUPFAM 3 SignaLink 1 SwissLipids 1 SwissPalm 1 TCDB 1 TreeFam 1 UCSC 1 UniPathway 1 UniProtKB 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 2991281

Title: Human 3-hydroxy-3-methylglutaryl coenzyme A reductase. Conserved domains responsible for catalytic activity and sterol-regulated degradation.

PubMed ID: 2991281

DOI: 10.1016/s0021-9258(17)39242-6

PubMed ID: 14702039

Title: Complete sequencing and characterization of 21,243 full-length human cDNAs.

PubMed ID: 14702039

DOI: 10.1038/ng1285

PubMed ID: 15372022

Title: The DNA sequence and comparative analysis of human chromosome 5.

PubMed ID: 15372022

DOI: 10.1038/nature02919

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 6995544

Title: Multivalent feedback regulation of HMG CoA reductase, a control mechanism coordinating isoprenoid synthesis and cell growth.

PubMed ID: 6995544

PubMed ID: 12535518

Title: Accelerated degradation of HMG CoA reductase mediated by binding of insig-1 to its sterol-sensing domain.

PubMed ID: 12535518

DOI: 10.1016/s1097-2765(02)00822-5

PubMed ID: 17180682

Title: Localization of the pre-squalene segment of the isoprenoid biosynthetic pathway in mammalian peroxisomes.

PubMed ID: 17180682

DOI: 10.1007/s00418-006-0254-6

PubMed ID: 19458199

Title: Dislocation of HMG-CoA reductase and Insig-1, two polytopic endoplasmic reticulum proteins, en route to proteasomal degradation.

PubMed ID: 19458199

DOI: 10.1091/mbc.e08-09-0953

PubMed ID: 21778231

Title: Metabolically regulated endoplasmic reticulum-associated degradation of 3-hydroxy-3-methylglutaryl-CoA reductase: evidence for requirement of a geranylgeranylated protein.

PubMed ID: 21778231

DOI: 10.1074/jbc.m111.278036

PubMed ID: 21357570

Title: Epigallocatechin-3-gallate potently inhibits the in vitro activity of hydroxy-3-methyl-glutaryl-CoA reductase.

PubMed ID: 21357570

DOI: 10.1194/jlr.m011817

PubMed ID: 22143767

Title: Sterol-induced degradation of HMG CoA reductase depends on interplay of two Insigs and two ubiquitin ligases, gp78 and Trc8.

PubMed ID: 22143767

DOI: 10.1073/pnas.1112831108

PubMed ID: 22989091

Title: A novel 3-hydroxy-3-methylglutaryl-coenzyme A reductase (HMGCR) splice variant with an alternative exon 1 potentially encoding an extended N-terminus.

PubMed ID: 22989091

DOI: 10.1186/1471-2199-13-29

PubMed ID: 23169578

Title: The UBIAD1 prenyltransferase links menaquione-4 synthesis to cholesterol metabolic enzymes.

PubMed ID: 23169578

DOI: 10.1002/humu.22230

PubMed ID: 23186163

Title: Toward a comprehensive characterization of a human cancer cell phosphoproteome.

PubMed ID: 23186163

DOI: 10.1021/pr300630k

PubMed ID: 24275569

Title: An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.

PubMed ID: 24275569

DOI: 10.1016/j.jprot.2013.11.014

PubMed ID: 10698924

Title: Crystal structure of the catalytic portion of human HMG-CoA reductase: insights into regulation of activity and catalysis.

PubMed ID: 10698924

DOI: 10.1093/emboj/19.5.819

PubMed ID: 11349148

Title: Structural mechanism for statin inhibition of HMG-CoA reductase.

PubMed ID: 11349148

DOI: 10.1126/science.1059344

PubMed ID: 18540668

Title: Thermodynamic and structure guided design of statin based inhibitors of 3-hydroxy-3-methylglutaryl coenzyme A reductase.

PubMed ID: 18540668

DOI: 10.1021/jm7015057

PubMed ID: 10391209

Title: Characterization of single-nucleotide polymorphisms in coding regions of human genes.

PubMed ID: 10391209

DOI: 10.1038/10290

PubMed ID: 18193044

Title: Six new loci associated with blood low-density lipoprotein cholesterol, high-density lipoprotein cholesterol or triglycerides in humans.

PubMed ID: 18193044

DOI: 10.1038/ng.75

PubMed ID: 18354102

Title: Polymorphisms associated with cholesterol and risk of cardiovascular events.

PubMed ID: 18354102

DOI: 10.1056/nejmoa0706728

PubMed ID: 20686565

Title: Biological, clinical and population relevance of 95 loci for blood lipids.

PubMed ID: 20686565

DOI: 10.1038/nature09270

PubMed ID: 37167966

Title: Bi-allelic variants in HMGCR cause an autosomal-recessive progressive limb-girdle muscular dystrophy.

PubMed ID: 37167966

DOI: 10.1016/j.ajhg.2023.04.006

PubMed ID: 36745799

Title: Limb girdle muscular disease caused by HMGCR mutation and statin myopathy treatable with mevalonolactone.

PubMed ID: 36745799

DOI: 10.1073/pnas.2217831120

Sequence Information:

  • Length: 888
  • Mass: 97476
  • Checksum: 49B610DCCCFA26B6
  • Sequence:
    • MLSRLFRMHG LFVASHPWEV IVGTVTLTIC MMSMNMFTGN NKICGWNYEC PKFEEDVLSS 
DIIILTITRC IAILYIYFQF QNLRQLGSKY ILGIAGLFTI FSSFVFSTVV IHFLDKELTG 
LNEALPFFLL LIDLSRASTL AKFALSSNSQ DEVRENIARG MAILGPTFTL DALVECLVIG 
VGTMSGVRQL EIMCCFGCMS VLANYFVFMT FFPACVSLVL ELSRESREGR PIWQLSHFAR 
VLEEEENKPN PVTQRVKMIM SLGLVLVHAH SRWIADPSPQ NSTADTSKVS LGLDENVSKR 
IEPSVSLWQF YLSKMISMDI EQVITLSLAL LLAVKYIFFE QTETESTLSL KNPITSPVVT 
QKKVPDNCCR REPMLVRNNQ KCDSVEEETG INRERKVEVI KPLVAETDTP NRATFVVGNS 
SLLDTSSVLV TQEPEIELPR EPRPNEECLQ ILGNAEKGAK FLSDAEIIQL VNAKHIPAYK 
LETLMETHER GVSIRRQLLS KKLSEPSSLQ YLPYRDYNYS LVMGACCENV IGYMPIPVGV 
AGPLCLDEKE FQVPMATTEG CLVASTNRGC RAIGLGGGAS SRVLADGMTR GPVVRLPRAC 
DSAEVKAWLE TSEGFAVIKE AFDSTSRFAR LQKLHTSIAG RNLYIRFQSR SGDAMGMNMI 
SKGTEKALSK LHEYFPEMQI LAVSGNYCTD KKPAAINWIE GRGKSVVCEA VIPAKVVREV 
LKTTTEAMIE VNINKNLVGS AMAGSIGGYN AHAANIVTAI YIACGQDAAQ NVGSSNCITL 
MEASGPTNED LYISCTMPSI EIGTVGGGTN LLPQQACLQM LGVQGACKDN PGENARQLAR 
IVCGTVMAGE LSLMAALAAG HLVKSHMIHN RSKINLQDLQ GACTKKTA

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. For the full schema, download it here.