{ "uniprot_canonical_ac": "P04035-1", "uniprot_ac": "P04035", "uniprot_id": "HMDH_HUMAN", "mass": { "chemical_mass": 97476.0, "monoisotopic_mass": 97476.0 }, "refseq": { "ac": "NP_000850", "name": "3-hydroxy-3-methylglutaryl-Coenzyme A reductase isoform 1", "summary": "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 in mammalian cells this enzyme is suppressed by cholesterol derived from the internalization and degradation of low density lipoprotein (LDL) via the LDL receptor. Competitive inhibitors of the reductase induce the expression of LDL receptors in the liver, which in turn increases the catabolism of plasma LDL and lowers the plasma concentration of cholesterol, an important determinant of atherosclerosis. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2008].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000850" }, "gene_names": [ { "name": "HMGCR", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/P04035", "id": "P04035" }, { "name": "HMGCR", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000850", "id": "NP_000850" }, { "name": "LDLCQ3; LGMDR28; MYPLG", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000850", "id": "NP_000850" } ], "protein_names": [ { "name": "3-hydroxy-3-methylglutaryl-coenzyme A reductase", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "P04035" }, { "name": "1.1.1.34", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P04035" }, { "name": "3-hydroxy-3-methylglutaryl-Coenzyme A reductase isoform 1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000850", "id": "NP_000850" }, { "name": "3-hydroxy-3-methylglutaryl-Coenzyme A reductase; hydroxymethylglutaryl-CoA reductase; 3-hydroxy-3-methylglutaryl CoA reductase (NADPH); HMG-CoA reductase", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000850", "id": "NP_000850" }, { "name": "HMG-CoA reductase", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P04035" } ], "function": [ { "annotation": "Association between HMGCR, CRP, and CETP gene polymorphisms and metabolic/inflammatory serum profile in healthy adolescents. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_000850", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000850" }, { "database": "PubMed", "id": "37833739", "url": "https://glygen.org/publication/PubMed/37833739" } ] }, { "annotation": "Association of NPC1L1 and HMGCR gene polymorphisms with coronary artery calcification in patients with premature triple-vessel coronary disease. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_000850", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000850" }, { "database": "PubMed", "id": "38233830", "url": "https://glygen.org/publication/PubMed/38233830" } ] }, { "annotation": "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:2991281, PubMed:21357570, PubMed:6995544, PubMed:36745799). HMGCR is the main target of statins, a class of cholesterol-lowering drugs (PubMed:11349148, PubMed:18540668, PubMed:36745799).", "evidence": [ { "database": "UniProtKB", "id": "P04035", "url": "https://www.uniprot.org/uniprot/P04035#function" }, { "database": "PubMed", "id": "6995544", "url": "https://glygen.org/publication/PubMed/6995544" }, { "database": "PubMed", "id": "18540668", "url": "https://glygen.org/publication/PubMed/18540668" }, { "database": "PubMed", "id": "11349148", "url": "https://glygen.org/publication/PubMed/11349148" }, { "database": "PubMed", "id": "21357570", "url": "https://glygen.org/publication/PubMed/21357570" }, { "database": "PubMed", "id": "2991281", "url": "https://glygen.org/publication/PubMed/2991281" }, { "database": "PubMed", "id": "36745799", "url": "https://glygen.org/publication/PubMed/36745799" } ] }, { "annotation": "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 in mammalian cells this enzyme is suppressed by cholesterol derived from the internalization and degradation of low density lipoprotein (LDL) via the LDL receptor. Competitive inhibitors of the reductase induce the expression of LDL receptors in the liver, which in turn increases the catabolism of plasma LDL and lowers the plasma concentration of cholesterol, an important determinant of atherosclerosis. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2008].", "evidence": [ { "database": "RefSeq", "id": "NP_000850", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000850" } ] }, { "annotation": "HMGCR gene polymorphism is associated with residual cholesterol risk in premature triple-vessel disease patients treated with moderate-intensity statins. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_000850", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000850" }, { "database": "PubMed", "id": "37355634", "url": "https://glygen.org/publication/PubMed/37355634" } ] }, { "annotation": "Limb girdle muscular disease caused by HMGCR mutation and statin myopathy treatable with mevalonolactone.", "evidence": [ { "database": "RefSeq", "id": "NP_000850", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000850" }, { "database": "PubMed", "id": "36745799", "url": "https://glygen.org/publication/PubMed/36745799" } ] }, { "annotation": "Novel polymorphism of the HMGCR gene related to the risk of diabetes in premature triple-vessel disease patients.", "evidence": [ { "database": "RefSeq", "id": "NP_000850", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000850" }, { "database": "PubMed", "id": "35998373", "url": "https://glygen.org/publication/PubMed/35998373" } ] } ], "disease": [ { "disease_id": "MONDO:0957270", "recommended_name": { "id": "MONDO:0957270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0957270", "name": "muscular dystrophy, limb-girdle, autosomal recessive 28", "description": "" }, "synonyms": [ { "id": "MIM:620375", "resource": "MIM", "url": "https://www.omim.org/entry/620375", "name": "Muscular dystrophy, limb-girdle, autosomal recessive 28", "description": "Muscular dystrophy, limb-girdle, autosomal recessive 28" } ], "evidence": [ { "id": "620375", "database": "MIM", "url": "https://www.omim.org/entry/620375" } ] } ], "snv": [ { "evidence": [ { "id": "rs538995429", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs538995429" }, { "id": "rs538995429", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs538995429" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 133, "end_pos": 133, "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (DLS->NLS).", "chr_id": "5", "chr_pos": "75345605", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D133", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1488541764", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1488541764" }, { "id": "rs1488541764", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1488541764" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "start_pos": 183, "end_pos": 183, "sequence_org": "T", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (TMS->NMS).", "chr_id": "5", "chr_pos": "75347301", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T183", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1014962118", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1014962118" }, { "id": "rs1014962118", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1014962118#frequency_tab" }, { "id": "rs1014962118", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1014962118" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "start_pos": 281, "end_pos": 281, "sequence_org": "N", "sequence_mut": "K", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NST->KST).", "chr_id": "5", "chr_pos": "75350851", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N281", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1284931549", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1284931549" }, { "id": "rs1284931549", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1284931549" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "start_pos": 283, "end_pos": 283, "sequence_org": "T", "sequence_mut": "I", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NST->NSI).", "chr_id": "5", "chr_pos": "75350856", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T283", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs374534527", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs374534527" }, { "id": "rs374534527", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs374534527" }, { "id": "rs374534527", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs374534527#frequency_tab" }, { "id": "rs374534527", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs374534527" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 354, "end_pos": 354, "sequence_org": "I", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (ITS->NTS).", "chr_id": "5", "chr_pos": "75351187", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "I354", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1269895716", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1269895716" }, { "id": "rs1269895716", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1269895716#frequency_tab" }, { "id": "rs1269895716", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1269895716" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 413, "end_pos": 413, "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NRA->NRT).", "chr_id": "5", "chr_pos": "75351471", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A413", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs146188615", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs146188615" }, { "id": "rs146188615", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs146188615" }, { "id": "rs146188615", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs146188615#frequency_tab" }, { "id": "rs146188615", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs146188615" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 424, "end_pos": 424, "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (DTS->NTS).", "chr_id": "5", "chr_pos": "75351504", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D424", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1376869865", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1376869865" }, { "id": "rs1376869865", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1376869865" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 531, "end_pos": 531, "sequence_org": "I", "sequence_mut": "T", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NVI->NVT).", "chr_id": "5", "chr_pos": "75355084", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "I531", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs980728664", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs980728664" }, { "id": "rs980728664", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs980728664" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 660, "end_pos": 660, "sequence_org": "I", "sequence_mut": "T", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NMI->NMT).", "chr_id": "5", "chr_pos": "75356441", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "I660", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs747124451", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs747124451" }, { "id": "rs747124451", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs747124451" }, { "id": "rs747124451", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs747124451" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 705, "end_pos": 705, "sequence_org": "S", "sequence_mut": "C", "comment": "Germline mutation passed 1 out of 1 filters: o-glyco-site-loss (S->C).", "chr_id": "5", "chr_pos": "75358784", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S705", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs747124451", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs747124451" }, { "id": "rs747124451", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs747124451" }, { "id": "rs747124451", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs747124451" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 705, "end_pos": 705, "sequence_org": "S", "sequence_mut": "Y", "comment": "Germline mutation passed 1 out of 1 filters: o-glyco-site-loss (S->Y).", "chr_id": "5", "chr_pos": "75358784", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S705", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs774128813", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs774128813" }, { "id": "rs774128813", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs774128813" }, { "id": "rs774128813", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs774128813" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 736, "end_pos": 736, "sequence_org": "N", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NKN->NKS).", "chr_id": "5", "chr_pos": "75359219", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N736", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs763336817", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs763336817" }, { "id": "rs763336817", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs763336817" }, { "id": "rs763336817", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs763336817" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 773, "end_pos": 773, "sequence_org": "G", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NVG->NVS).", "chr_id": "5", "chr_pos": "75359416", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G773", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs775023531", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs775023531" }, { "id": "rs775023531", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs775023531" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "start_pos": 885, "end_pos": 885, "sequence_org": "K", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (KKT->NKT).", "chr_id": "5", "chr_pos": "75360330", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "K885", "keywords": [ "ebi", "germline" ] } ], "mutagenesis": [ { "start_pos": 248, "end_pos": 248, "sequence_org": "K", "sequence_mut": "R", "comment": "Abolishes sterol-mediated ubiquitination and degradation; when associated with R-89.", "evidence": [ { "database": "UniProtKB", "id": "P04035", "url": "https://www.uniprot.org/uniprot/P04035" }, { "database": "PubMed", "id": "19458199", "url": "https://glygen.org/publication/PubMed/19458199" } ] }, { "start_pos": 75, "end_pos": 77, "sequence_org": "YIY", "sequence_mut": "AIA", "comment": "Reduced sterol-mediated release from the ER. Not deglycosylated in response to sterols.", "evidence": [ { "database": "UniProtKB", "id": "P04035", "url": "https://www.uniprot.org/uniprot/P04035" }, { "database": "PubMed", "id": "19458199", "url": "https://glygen.org/publication/PubMed/19458199" } ] }, { "start_pos": 807, "end_pos": 807, "sequence_org": "G", "sequence_mut": "D", "comment": "Does not affect hydroxymethylglutaryl-CoA reductase activity.", "evidence": [ { "database": "UniProtKB", "id": "P04035", "url": "https://www.uniprot.org/uniprot/P04035" }, { "database": "PubMed", "id": "21357570", "url": "https://glygen.org/publication/PubMed/21357570" } ] }, { "start_pos": 89, "end_pos": 89, "sequence_org": "K", "sequence_mut": "R", "comment": "Abolishes sterol-mediated ubiquitination and degradation; when associated with R-248.", "evidence": [ { "database": "UniProtKB", "id": "P04035", "url": "https://www.uniprot.org/uniprot/P04035" }, { "database": "PubMed", "id": "19458199", "url": "https://glygen.org/publication/PubMed/19458199" } ] } ], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "85.19", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000113161", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000113161" } ] }, { "tissue": { "name": "Oral cavity", "namespace": "UBERON", "id": "0000167", "url": "http://purl.obolibrary.org/obo/UBERON_0000167" }, "score": "91.22", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000113161", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000113161" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "87.81", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000113161", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000113161" } ] }, { "tissue": { "name": "Uterus", "namespace": "UBERON", "id": "0000995", "url": "http://purl.obolibrary.org/obo/UBERON_0000995" }, "score": "70.62", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000113161", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000113161" } ] }, { "tissue": { "name": "Esophagus", "namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "84.35", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000113161", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000113161" } ] }, { "tissue": { "name": "Rectum", "namespace": "UBERON", "id": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "95.34", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000113161", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000113161" } ] }, { "tissue": { "name": "Colon", "namespace": "UBERON", "id": "0001155", "url": "http://purl.obolibrary.org/obo/UBERON_0001155" }, "score": "85.77", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000113161", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000113161" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "84.13", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000113161", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000113161" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "87.7", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000113161", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000113161" } ] }, { "tissue": { "name": "Lung", "namespace": "UBERON", "id": "0002048", "url": "http://purl.obolibrary.org/obo/UBERON_0002048" }, "score": "80.28", "present": "MEDIUM", 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"https://bgee.org/?page=gene&gene_id=ENSG00000113161" } ] } ], "expression_disease": [ { "significant": "Yes", "trend": "down", "name": "Prostate cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10283", "evidence": [ { "database": "BioXpress", "id": "P04035", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P04035" } ], "disease": [ { "disease_id": "DOID:10283", "recommended_name": { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate cancer", "description": "A male reproductive organ cancer that is located_in the prostate." }, "synonyms": [ { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "NGP - new growth of prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "hereditary prostate cancer", "description": "" }, { 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"MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, type 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "HPC5", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, type 3", "description": "" 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"" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "HPC8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "predisposing for prostate cancer", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, type 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "HPC6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "HPC10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate carcinoma", "description": "Prostate carcinoma that has developed in relatives of patients with a history of prostate carcinoma." }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate carcinoma", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial, susceptibility to, autosomal dominant, somatic 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"https://monarchinitiative.org/disease/MONDO:0012470", "name": "HPC7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer aggressiveness", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene." }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "RNASEL familial prostate cancer", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "familial 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"description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "HPCX1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer susceptibility, 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"description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of the breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial Male", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Thyroid cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1781", "evidence": [ { "database": "BioXpress", "id": "P04035", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P04035" } ], "disease": [ { "disease_id": "DOID:1781", "recommended_name": { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid cancer", "description": "An endocrine gland cancer located in the thryoid gland located in the neck below the thyroid cartilage." }, "synonyms": [ { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid gland cancer", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", 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"https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P04035" } ], "disease": [ { "disease_id": "DOID:263", "recommended_name": { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "kidney cancer", "description": "A urinary system cancer that is located_in the kidney." }, "synonyms": [ { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "malignant neoplasm of kidney except pelvis", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "malignant tumour of kidney", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "renal cancer", "description": "" } ] } ] }, { "significant": "No", "trend": "down", "name": "Liver cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:3571", "evidence": [ 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"http://disease-ontology.org/term/DOID:3571", "name": "non-resectable primary hepatic malignant neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "primary liver cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "primary malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "resectable malignant neoplasm of the liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver, not specified as primary or secondary", "description": "" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Uterine cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:363", 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"MLSRLFRMHGLFVASHPWEVIVGTVTLTICMMSMNMFTGNNKICGWNYECPKFEEDVLSSDIIILTITRCIAILYIYFQFQNLRQLGSKYILGIAGLFTIFSSFVFSTVVIHFLDKELTGLNEALPFFLLLIDLSRASTLAKFALSSNSQDEVRENIARGMAILGPTFTLDALVECLVIGVGTMSGVRQLEIMCCFGCMSVLANYFVFMTFFPACVSLVLELSRESREGRPIWQLSHFARVLEEEENKPNPVTQRVKMIMSLGLVLVHAHSRWIADPSPQNSTADTSKVSLGLDENVSKRIEPSVSLWQFYLSKMISMDIEQVITLSLALLLAVKYIFFEQTETESTLSLKNPITSPVVTQKKVPDNCCRREPMLVRNNQKCDSVEEETGINRERKVEVIKPLVAETDTPNRATFVVGNSSLLDTSSVLVTQEPEIELPREPRPNEECLQILGNAEKGAKFLSDAEIIQLVNAKHIPAYKLETLMETHERGVSIRRQLLSKKLSEPSSLQYLPYRDYNYSLVMGACCENVIGYMPIPVGVAGPLCLDEKEFQVPMATTEGCLVASTNRGCRAIGLGGGASSRVLADGMTRGPVVRLPRACDSAEVKAWLETSEGFAVIKEAFDSTSRFARLQKLHTSIAGRNLYIRFQSRSGDAMGMNMISKGTEKALSKLHEYFPEMQILAVSGNYCTDKKPAAINWIEGRGKSVVCEAVIPAKVVREVLKTTTEAMIEVNINKNLVGSAMAGSIGGYNAHAANIVTAIYIACGQDAAQNVGSSNCITLMEASGPTNEDLYISCTMPSIEIGTVGGGTNLLPQQACLQMLGVQGACKDNPGENARQLARIVCGTVMAGELSLMAALAAGHLVKSHMIHNRSKINLQDLQGACTKKTA", "length": 888, "header": "sp|P04035-1|HMDH_HUMAN Isoform 1 of 3-hydroxy-3-methylglutaryl-coenzyme A reductase OS=Homo sapiens OX=9606 GN=HMGCR PE=1 SV=1 CANONICAL=P04035-1" }, "isoforms": [ { "isoform_ac": "A0A7P0TBP1-1", "url": "", "sequence": { "sequence": "MLSRLFRMHGLFVASHPWEVIVGTVTLTICMMSMNMFTGNNKICGWNYECPKFEEDVLSSDIIILTITRCIAILYIYFQFQNLRQLGSKYILGIAGLFTIFSSFVFSTVVIHFLDKELTGLKWSFALVTQAGV", "length": 133, "header": "tr|A0A7P0TBP1-1|A0A7P0TBP1_HUMAN Computationally mapped isoform of 3-hydroxy-3-methylglutaryl-CoA reductase OS=Homo sapiens OX=9606 GN=HMGCR PE=1 SV=1 CANONICAL=P04035-1" }, "locus": { "chromosome": "5", "start_pos": 75344656, "end_pos": 75342606, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000681567.1", "url": "https://www.ensembl.org/id/ENST00000681567.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000506708.1", "url": "https://www.ensembl.org/id/ENSP00000506708.1" } ] } }, { "isoform_ac": "A0A7P0Z481-1", "url": "", "sequence": { "sequence": "MLSRLFRMHGLFVASHPWEVIVGTVTLTICMMSMNMFTGNNKICGWNYECPKFEEDVLSSDIIILTITRCIAILYIYFQFQNLRQLGSKYILGIAGLFTIFSSFVFSTVVIHFLDKELTGLNEALPFFLLLIDLSRASTLAKFALSSNSQDEVRENIARGMAILGPTFTLDALVECLVIGVGTMSGVRQLEIMCCFGCMSVLANYFVFMTFFPACVSLVLELSRESREGRPIWQLSHFARVLEEEENKPNPVTQRVKMIMSLGLVLVHAHSRWIADPSPQNSTADTSKVSLGLDENVSKRIEPSVSLWQFYLSKMISMDIEQVITLSLALLLAVKYIFFEQTETESTLSLKNPITSPVVTQKKVPDNCCRREPMLVRNNQKCDSVEEETGINRERKVEVIKPLVAETDTPNRATFVVGNSSLLDTSSVLVTQEPEIELPREPRPNEECLQILGNAEKGAKFLSDAEIIQLVNAKHIPAYKLETLMETHERGVSIRRQLLSKKLSEPSSLQYLPYRDYNYSLVMGACCENVIGYMPIPVGVAGPLCLDEKEFQVPMATTEGCLVASTNRGCRAIGLGGGASSRVLADGMTRGPVVRLPRACDSAEVKAWLETSEGFAVIKEAFDSTSRFARLQKLHTSIAGRNLYIRFQSRSGDAMGMNMISKGTEKALSKLHEYFPEMQILAVSGNYCTDKKPAAINWIEGRGKSVVCEAVIPAKVVREVLKTTTEAMIEVNINKNLVGSAMAGSIGGYNAHAANIVTAIYIACGQDAAQNVGSSNCITLMEASGPTNEDLYISCTMPSIEIGTMLGVQGACKDNPGENARQLARIVCGTVMAGELSLMAALAAGHLVKSHMIHNRSKINLQDLQGACTKKTA", "length": 873, "header": "tr|A0A7P0Z481-1|A0A7P0Z481_HUMAN Computationally mapped isoform of 3-hydroxy-3-methylglutaryl coenzyme A reductase OS=Homo sapiens OX=9606 GN=HMGCR PE=1 SV=1 CANONICAL=P04035-1" }, "locus": { "chromosome": "5", "start_pos": 75360339, "end_pos": 75342606, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000680160.1", "url": "https://www.ensembl.org/id/ENST00000680160.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000505315.1", "url": "https://www.ensembl.org/id/ENSP00000505315.1" } ] } }, { "isoform_ac": "C9JKX7-1", "url": "", "sequence": { "sequence": "MLSRLFRMHGLFVASHPW", "length": 18, "header": "tr|C9JKX7-1|C9JKX7_HUMAN Computationally mapped isoform of 3-hydroxy-3-methylglutaryl-CoA reductase OS=Homo sapiens OX=9606 GN=HMGCR PE=4 SV=2 CANONICAL=P04035-1" }, "locus": { "chromosome": "5", "start_pos": 75342659, "end_pos": 75342606, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000442032.2", "url": "https://www.ensembl.org/id/ENST00000442032.2" }, { "database": "Ensembl Peptide", "id": "ENSP00000409100.2", "url": "https://www.ensembl.org/id/ENSP00000409100.2" } ] } }, { "isoform_ac": "H0Y8F6-1", "url": "", "sequence": { "sequence": "YFPEMQILAVSGNYCTDKKPAAINWIEGRGKSVVCEAVIPAKVVREMLGVQGACKDNPGENARQLARIVCGTVMAGELSLMAALAAGHLVKSHMIHNRSKINLQDLQGACTKKTA", "length": 115, "header": "tr|H0Y8F6-1|H0Y8F6_HUMAN Computationally mapped isoform of hydroxymethylglutaryl-CoA reductase (NADPH) OS=Homo sapiens OX=9606 GN=HMGCR PE=1 SV=1 CANONICAL=P04035-1" }, "locus": { "chromosome": "5", "start_pos": 75360339, "end_pos": 75358690, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000511986.1", "url": "https://www.ensembl.org/id/ENST00000511986.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000420871.1", "url": "https://www.ensembl.org/id/ENSP00000420871.1" } ] } }, { "isoform_ac": "H0Y8K6-1", "url": "", "sequence": { "sequence": "XHEYFPEMQILAVSGNYCTDKKPAAINWIEGRGKSVVCEAVIPAKVVREVLKTTTEAMIEVNINKNLVGSAMAGSIGGYNAHAANIVTAIYIACGQMLGVQGACKDNPGENARQLARIVCGTVMAGELSLMAALAAGHLVKSHMIHNRSKINLQDLQGACTKKTA", "length": 165, "header": "tr|H0Y8K6-1|H0Y8K6_HUMAN Computationally mapped isoform of hydroxymethylglutaryl-CoA reductase (NADPH) OS=Homo sapiens OX=9606 GN=HMGCR PE=1 SV=1 CANONICAL=P04035-1" }, "locus": { "chromosome": "5", "start_pos": 75360340, "end_pos": 75358682, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000509085.5", "url": "https://www.ensembl.org/id/ENST00000509085.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000421378.1", "url": "https://www.ensembl.org/id/ENSP00000421378.1" } ] } }, { "isoform_ac": "P04035-1", "url": "", "sequence": { "sequence": "MLSRLFRMHGLFVASHPWEVIVGTVTLTICMMSMNMFTGNNKICGWNYECPKFEEDVLSSDIIILTITRCIAILYIYFQFQNLRQLGSKYILGIAGLFTIFSSFVFSTVVIHFLDKELTGLNEALPFFLLLIDLSRASTLAKFALSSNSQDEVRENIARGMAILGPTFTLDALVECLVIGVGTMSGVRQLEIMCCFGCMSVLANYFVFMTFFPACVSLVLELSRESREGRPIWQLSHFARVLEEEENKPNPVTQRVKMIMSLGLVLVHAHSRWIADPSPQNSTADTSKVSLGLDENVSKRIEPSVSLWQFYLSKMISMDIEQVITLSLALLLAVKYIFFEQTETESTLSLKNPITSPVVTQKKVPDNCCRREPMLVRNNQKCDSVEEETGINRERKVEVIKPLVAETDTPNRATFVVGNSSLLDTSSVLVTQEPEIELPREPRPNEECLQILGNAEKGAKFLSDAEIIQLVNAKHIPAYKLETLMETHERGVSIRRQLLSKKLSEPSSLQYLPYRDYNYSLVMGACCENVIGYMPIPVGVAGPLCLDEKEFQVPMATTEGCLVASTNRGCRAIGLGGGASSRVLADGMTRGPVVRLPRACDSAEVKAWLETSEGFAVIKEAFDSTSRFARLQKLHTSIAGRNLYIRFQSRSGDAMGMNMISKGTEKALSKLHEYFPEMQILAVSGNYCTDKKPAAINWIEGRGKSVVCEAVIPAKVVREVLKTTTEAMIEVNINKNLVGSAMAGSIGGYNAHAANIVTAIYIACGQDAAQNVGSSNCITLMEASGPTNEDLYISCTMPSIEIGTVGGGTNLLPQQACLQMLGVQGACKDNPGENARQLARIVCGTVMAGELSLMAALAAGHLVKSHMIHNRSKINLQDLQGACTKKTA", "length": 888, "header": "sp|P04035-1|HMDH_HUMAN Isoform 1 of 3-hydroxy-3-methylglutaryl-coenzyme A reductase OS=Homo sapiens OX=9606 GN=HMGCR PE=1 SV=1 CANONICAL=P04035-1" }, "locus": { "chromosome": "5", "start_pos": 75360339, "end_pos": 75342606, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000287936.9", "url": "https://www.ensembl.org/id/ENST00000287936.9" }, { "database": "Ensembl Peptide", "id": "ENSP00000287936.4", "url": "https://www.ensembl.org/id/ENSP00000287936.4" } ] } }, { "isoform_ac": "P04035-2", "url": "", "sequence": { "sequence": "MLSRLFRMHGLFVASHPWEVIVGTVTLTICMMSMNMFTGNNKICGWNYECPKFEEDVLSSDIIILTITRCIAILYIYFQFQNLRQLGSKYILGIAGLFTIFSSFVFSTVVIHFLDKELTGLNEALPFFLLLIDLSRASTLAKFALSSNSQDEVRENIARGMAILGPTFTLDALVECLVIGVGTMSGVRQLEIMCCFGCMSVLANYFVFMTFFPACVSLVLELSRESREGRPIWQLSHFARVLEEEENKPNPVTQRVKMIMSLGLVLVHAHSRWIADPSPQNSTADTSKVSLGLDENVSKRIEPSVSLWQFYLSKMISMDIEQVITLSLALLLAVKYIFFEQTETESTLSLKNPITSPVVTQKKVPDNCCRREPMLVRNNQKCDSVEEETGINRERKVEVIKPLVAETDTPNRATFVVGNSSLLDTSSVLVTQEPEIELPREPRPNEECLQILGNAEKGAKFLSDAEIIQLVNAKHIPAYKLETLMETHERGVSIRRQLLSKKLSEPSSLQYLPYRDYNYSLLGGGASSRVLADGMTRGPVVRLPRACDSAEVKAWLETSEGFAVIKEAFDSTSRFARLQKLHTSIAGRNLYIRFQSRSGDAMGMNMISKGTEKALSKLHEYFPEMQILAVSGNYCTDKKPAAINWIEGRGKSVVCEAVIPAKVVREVLKTTTEAMIEVNINKNLVGSAMAGSIGGYNAHAANIVTAIYIACGQDAAQNVGSSNCITLMEASGPTNEDLYISCTMPSIEIGTVGGGTNLLPQQACLQMLGVQGACKDNPGENARQLARIVCGTVMAGELSLMAALAAGHLVKSHMIHNRSKINLQDLQGACTKKTA", "length": 835, "header": "sp|P04035-2|HMDH_HUMAN Isoform 2 of 3-hydroxy-3-methylglutaryl-coenzyme A reductase OS=Homo sapiens OX=9606 GN=HMGCR PE=1 SV=1 CANONICAL=P04035-1" }, "locus": { "chromosome": "5", "start_pos": 75360339, "end_pos": 75342606, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000343975.9", "url": "https://www.ensembl.org/id/ENST00000343975.9" }, { "database": "Ensembl Peptide", "id": "ENSP00000340816.5", "url": "https://www.ensembl.org/id/ENSP00000340816.5" } ] } }, { "isoform_ac": "P04035-3", "url": "", "sequence": { "sequence": "MQWMSHTRERDAGSKDSVATMLSRLFRMHGLFVASHPWEVIVGTVTLTICMMSMNMFTGNNKICGWNYECPKFEEDVLSSDIIILTITRCIAILYIYFQFQNLRQLGSKYILGIAGLFTIFSSFVFSTVVIHFLDKELTGLNEALPFFLLLIDLSRASTLAKFALSSNSQDEVRENIARGMAILGPTFTLDALVECLVIGVGTMSGVRQLEIMCCFGCMSVLANYFVFMTFFPACVSLVLELSRESREGRPIWQLSHFARVLEEEENKPNPVTQRVKMIMSLGLVLVHAHSRWIADPSPQNSTADTSKVSLGLDENVSKRIEPSVSLWQFYLSKMISMDIEQVITLSLALLLAVKYIFFEQTETESTLSLKNPITSPVVTQKKVPDNCCRREPMLVRNNQKCDSVEEETGINRERKVEVIKPLVAETDTPNRATFVVGNSSLLDTSSVLVTQEPEIELPREPRPNEECLQILGNAEKGAKFLSDAEIIQLVNAKHIPAYKLETLMETHERGVSIRRQLLSKKLSEPSSLQYLPYRDYNYSLVMGACCENVIGYMPIPVGVAGPLCLDEKEFQVPMATTEGCLVASTNRGCRAIGLGGGASSRVLADGMTRGPVVRLPRACDSAEVKAWLETSEGFAVIKEAFDSTSRFARLQKLHTSIAGRNLYIRFQSRSGDAMGMNMISKGTEKALSKLHEYFPEMQILAVSGNYCTDKKPAAINWIEGRGKSVVCEAVIPAKVVREVLKTTTEAMIEVNINKNLVGSAMAGSIGGYNAHAANIVTAIYIACGQDAAQNVGSSNCITLMEASGPTNEDLYISCTMPSIEIGTVGGGTNLLPQQACLQMLGVQGACKDNPGENARQLARIVCGTVMAGELSLMAALAAGHLVKSHMIHNRSKINLQDLQGACTKKTA", "length": 908, "header": "sp|P04035-3|HMDH_HUMAN Isoform 3 of 3-hydroxy-3-methylglutaryl-coenzyme A reductase OS=Homo sapiens OX=9606 GN=HMGCR PE=1 SV=1 CANONICAL=P04035-1" }, "locus": {} } ], "glycosylation": [ { "glytoucan_ac": "G48584BU", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 281, "start_aa": "Asn", "end_pos": 281, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn281", "evidence": [ { "id": "983", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/983" }, { "id": "29741879", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29741879" } ] }, { "glytoucan_ac": "G64527OM", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 281, "start_aa": "Asn", "end_pos": 281, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn281", "evidence": [ { "id": "983", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/983" }, { "id": "29741879", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29741879" } ] }, { "glytoucan_ac": "G70101JE", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 281, "start_aa": "Asn", "end_pos": 281, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn281", "evidence": [ { "id": "983", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/983" }, { "id": "29741879", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29741879" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "reported", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 281, "start_aa": "Asn", "end_pos": 281, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn281", "evidence": [ { "id": "P04035", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P04035#ptm_processing" }, { "id": "PRU00498", "database": "PROSITE-PRORULE", "url": "https://prosite.expasy.org/rule/PRU00498" }, { "id": "24190977", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/24190977" }, { "id": "GLY_000143", "database": "GlyGen", "url": "https://data.glygen.org/GLY_000143" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "reported", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 296, "start_aa": "Asn", "end_pos": 296, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn296", "evidence": [ { "id": "P04035", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P04035#ptm_processing" }, { "id": "PRU00498", "database": "PROSITE-PRORULE", "url": "https://prosite.expasy.org/rule/PRU00498" } ] }, { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "S", "relation": "attached", "comment": "O-GlcNAcylation", "start_pos": 705, "start_aa": "Ser", "end_pos": 705, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser705", "evidence": [ { "id": "P04035", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P04035" }, { "id": "31373491", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/31373491" }, { "id": "38253038", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/38253038" }, { "id": "P04035", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/P04035" } ] }, { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "S", "relation": "attached", "comment": "O-GlcNAcylation", "start_pos": 852, "start_aa": "Ser", "end_pos": 852, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser852", "evidence": [ { "id": "P04035", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P04035" }, { "id": "31373491", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/31373491" }, { "id": "38253038", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/38253038" } ] } ], "phosphorylation": [ { "start_pos": 271, "end_pos": 271, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "P04035", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P04035" }, { "database": "PubMed", "id": "35494241", "url": "" } ], "site_lbl": "Ser271" }, { "start_pos": 298, "end_pos": 298, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "P04035", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P04035" }, { "database": "PubMed", "id": "35494241", "url": "" } ], "site_lbl": "Ser298" }, { "start_pos": 504, "end_pos": 504, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "P04035", "url": "https://www.uniprot.org/uniprot/P04035" }, { "database": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" }, { "database": "iPTMnet", "id": "P04035", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P04035" } ], "site_lbl": "Ser504" }, { "start_pos": 872, "end_pos": 872, "kinase_uniprot_canonical_ac": "P17612-1", "kinase_gene_name": "PRKACA", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "P04035", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P04035" }, { "database": "PubMed", "id": "2369897", "url": "https://glygen.org/publication/PubMed/2369897" } ], "site_lbl": "Ser872" }, { "start_pos": 872, "end_pos": 872, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "P04035", "url": "https://www.uniprot.org/uniprot/P04035" }, { "database": "PubMed", "id": "24275569", "url": "https://glygen.org/publication/PubMed/24275569" }, { "database": "iPTMnet", "id": "P04035", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P04035" }, { "database": "PubMed", "id": "2369897", "url": "https://glygen.org/publication/PubMed/2369897" }, { "database": "PubMed", "id": "32526887", "url": "https://glygen.org/publication/PubMed/32526887" } ], "site_lbl": "Ser872" } ], "glycation": [], "keywords": [ "enzyme", "glycoprotein", "glycoprotein_reported", "glycoprotein_reported_with_glycan" ], "publication": [ { "title": "The EGR family of transcription-regulatory factors: progress at the interface of molecular and systems neuroscience.", "journal": "Trends in neurosciences", "date": "1999", "authors": "O'Donovan KJ, Tourtellotte WG, Millbrandt J, Baraban JM", "evidence": [ { "database": "Reactome", "id": "R-HSA-9619665", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9619665" } ], "reference": [ { "type": "PubMed", "id": "10203854", "url": "https://glygen.org/publication/PubMed/10203854" } ] }, { "title": "Phosphorylation of CREB in axon-induced Schwann cell proliferation.", "journal": "Journal of neuroscience research", "date": "1999", "authors": "Lee MM, Badache A, DeVries GH", "evidence": [ { "database": "Reactome", "id": "R-HSA-9619665", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9619665" } ], "reference": [ { "type": "PubMed", "id": "10220111", "url": "https://glygen.org/publication/PubMed/10220111" } ] }, { "title": "Characterization of single-nucleotide polymorphisms in coding regions of human genes.", "journal": "Nat. Genet.", "date": "1999", "authors": "Cargill M, Altshuler D, Ireland J, Sklar P, Ardlie K, Patil N, Shaw N, Lane CR, Lim EP, Kalyanaraman N, Nemesh J, Ziaugra L, Friedland L, Rolfe A, Warrington J, Lipshutz R, Daley GQ, Lander ES", "evidence": [ { "database": "UniProtKB", "id": "P04035", "url": "https://www.uniprot.org/uniprot/P04035" } ], "reference": [ { "type": "PubMed", "id": "10391209", "url": "https://glygen.org/publication/PubMed/10391209" } ] }, { "title": "Identification of conserved cis-elements and transcription factors required for sterol-regulated transcription of stearoyl-CoA desaturase 1 and 2.", "journal": "The Journal of biological chemistry", "date": "1999", "authors": "Tabor DE, Kim JB, Spiegelman BM, Edwards PA", "evidence": [ { "database": "Reactome", "id": "R-HSA-9619665", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9619665" } ], "reference": [ { "type": "PubMed", "id": "10400691", "url": "https://glygen.org/publication/PubMed/10400691" } ] }, { 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type-specific allele of the POU gene Oct-6 reveals Schwann cell autonomous function in nerve development and regeneration.", "journal": "The EMBO journal", "date": "2002", "authors": "Ghazvini M, Mandemakers W, Jaegle M, Piirsoo M, Driegen S, Koutsourakis M, Smit X, Grosveld F, Meijer D", "evidence": [ { "database": "Reactome", "id": "R-HSA-9619665", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9619665" } ], "reference": [ { "type": "PubMed", "id": "12198163", "url": "https://glygen.org/publication/PubMed/12198163" } ] }, { "title": "Accelerated degradation of HMG CoA reductase mediated by binding of insig-1 to its sterol-sensing domain.", "journal": "Molecular cell", "date": "2003", "authors": "Sever N, Yang T, Brown MS, Goldstein JL, DeBose-Boyd RA", "evidence": [ { "database": "UniProtKB", "id": "P04035", "url": "https://www.uniprot.org/uniprot/P04035" } ], "reference": [ { "type": "PubMed", "id": "12535518", "url": "https://glygen.org/publication/PubMed/12535518" } ] }, { 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"id": "R-HSA-9619665", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9619665" } ], "reference": [ { "type": "PubMed", "id": "15150276", "url": "https://glygen.org/publication/PubMed/15150276" } ] }, { "title": "DREG, a developmentally regulated G protein-coupled receptor containing two conserved proteolytic cleavage sites.", "journal": "Genes to cells : devoted to molecular & cellular mechanisms", "date": "2004", "authors": "Moriguchi T, Haraguchi K, Ueda N, Okada M, Furuya T, Akiyama T", "evidence": [ { "database": "Reactome", "id": "R-HSA-9619665", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9619665" } ], "reference": [ { "type": "PubMed", "id": "15189448", "url": "https://glygen.org/publication/PubMed/15189448" } ] }, { "title": "Restricted growth of Schwann cells lacking Cajal bands slows conduction in myelinated nerves.", "journal": "Nature", "date": "2004", "authors": "Court FA, Sherman DL, Pratt T, Garry EM, Ribchester RR, Cottrell DF, Fleetwood-Walker SM, 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communications", "date": "2005", "authors": "Wang J, Yu L, Schmidt RE, Su C, Huang X, Gould K, Cao G", "evidence": [ { "database": "Reactome", "id": "R-HSA-9619665", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9619665" } ], "reference": [ { "type": "PubMed", "id": "15907797", "url": "https://glygen.org/publication/PubMed/15907797" } ] }, { "title": "Nab proteins are essential for peripheral nervous system myelination.", "journal": "Nature neuroscience", "date": "2005", "authors": "Le N, Nagarajan R, Wang JY, Svaren J, LaPash C, Araki T, Schmidt RE, Milbrandt J", "evidence": [ { "database": "Reactome", "id": "R-HSA-9619665", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9619665" } ], "reference": [ { "type": "PubMed", "id": "16136673", "url": "https://glygen.org/publication/PubMed/16136673" } ] }, { "title": "Control of myelination in Schwann cells: a Krox20 cis-regulatory element integrates Oct6, Brn2 and Sox10 activities.", "journal": "EMBO reports", "date": 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"authors": "LeBlanc SE, Jang SW, Ward RM, Wrabetz L, Svaren J", "evidence": [ { "database": "Reactome", "id": "R-HSA-9619665", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9619665" } ], "reference": [ { "type": "PubMed", "id": "16373334", "url": "https://glygen.org/publication/PubMed/16373334" } ] }, { "title": "In vivo detection of Egr2 binding to target genes during peripheral nerve myelination.", "journal": "Journal of neurochemistry", "date": "2006", "authors": "Jang SW, LeBlanc SE, Roopra A, Wrabetz L, Svaren J", "evidence": [ { "database": "Reactome", "id": "R-HSA-9619665", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9619665" } ], "reference": [ { "type": "PubMed", "id": "16923174", "url": "https://glygen.org/publication/PubMed/16923174" } ] }, { "title": "The effects of cAMP on differentiation of cultured Schwann cells: progression from an early phenotype (04+) to a myelin phenotype (P0+, GFAP-, N-CAM-, NGF-receptor-) depends on growth inhibition.", "journal": "The Journal of cell biology", "date": "1991", "authors": "Morgan L, Jessen KR, Mirsky R", "evidence": [ { "database": "Reactome", "id": "R-HSA-9619665", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9619665" } ], "reference": [ { "type": "PubMed", "id": "1704008", "url": "https://glygen.org/publication/PubMed/1704008" } ] }, { "title": "Localization of the pre-squalene segment of the isoprenoid biosynthetic pathway in mammalian peroxisomes.", "journal": "Histochem. Cell Biol.", "date": "2007", "authors": "Kovacs WJ, Tape KN, Shackelford JE, Duan X, Kasumov T, Kelleher JK, Brunengraber H, Krisans SK", "evidence": [ { "database": "UniProtKB", "id": "P04035", "url": "https://www.uniprot.org/uniprot/P04035" } ], "reference": [ { "type": "PubMed", "id": "17180682", "url": "https://glygen.org/publication/PubMed/17180682" } ] }, { "title": "Neuropathy-associated Egr2 mutants disrupt cooperative activation of myelin protein zero by Egr2 and Sox10.", "journal": "Molecular and cellular biology", "date": "2007", "authors": "LeBlanc SE, Ward RM, Svaren J", "evidence": [ { "database": "Reactome", "id": "R-HSA-9619665", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9619665" } ], "reference": [ { "type": "PubMed", "id": "17325040", "url": "https://glygen.org/publication/PubMed/17325040" } ] }, { "title": "Hypomorphic Sox10 alleles reveal novel protein functions and unravel developmental differences in glial lineages.", "journal": "Development (Cambridge, England)", "date": "2007", "authors": "Schreiner S, Cossais F, Fischer K, Scholz S, Bosl MR, Holtmann B, Sendtner M, Wegner M", "evidence": [ { "database": "Reactome", "id": "R-HSA-9619665", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9619665" } ], "reference": [ { "type": "PubMed", "id": "17699610", "url": "https://glygen.org/publication/PubMed/17699610" } ] }, { "title": "Misexpression of Pou3f1 results in peripheral nerve hypomyelination and axonal loss.", "journal": "The Journal of neuroscience : the official journal of the Society for Neuroscience", "date": "2007", "authors": "Ryu EJ, Wang JY, Le N, Baloh RH, Gustin JA, Schmidt RE, Milbrandt J", "evidence": [ { "database": "Reactome", "id": "R-HSA-9619665", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9619665" } ], "reference": [ { "type": "PubMed", "id": "17959798", "url": "https://glygen.org/publication/PubMed/17959798" } ] }, { "title": "Six new loci associated with blood low-density lipoprotein cholesterol, high-density lipoprotein cholesterol or triglycerides in humans.", "journal": "Nat. Genet.", "date": "2008", "authors": "Kathiresan S, Melander O, Guiducci C, Surti A, Burtt NP, Rieder MJ, Cooper GM, Roos C, Voight BF, Havulinna AS, Wahlstrand B, Hedner T, Corella D, Tai ES, Ordovas JM, Berglund G, Vartiainen E, Jousilahti P, Hedblad B, Taskinen MR, Newton-Cheh C, Salomaa V, Peltonen L, Groop L, Altshuler DM, Orho-Melander M", "evidence": [ { "database": "UniProtKB", "id": "P04035", "url": "https://www.uniprot.org/uniprot/P04035" } ], "reference": [ { "type": "PubMed", "id": "18193044", "url": "https://glygen.org/publication/PubMed/18193044" } ] }, { "title": "Polymorphisms associated with cholesterol and risk of cardiovascular events.", "journal": "N. Engl. J. Med.", "date": "2008", "authors": "Kathiresan Sekar, Melander Olle, Anevski Dragi, Guiducci Candace, Burtt No\u00ebl P, Roos Charlotta, Hirschhorn Joel N, Berglund G\u00f6ran, Hedblad Bo, Groop Leif, Altshuler David M, Newton-Cheh Christopher, Orho-Melander Marju", "evidence": [ { "database": "UniProtKB", "id": "P04035", "url": "https://www.uniprot.org/uniprot/P04035" } ], "reference": [ { "type": "PubMed", "id": "18354102", "url": "https://glygen.org/publication/PubMed/18354102" } ] }, { "title": "Thermodynamic and structure guided design of statin based inhibitors of 3-hydroxy-3-methylglutaryl coenzyme A reductase.", "journal": "Journal of medicinal chemistry", "date": "2008-07-10", "authors": "Sarver Ronald W, Bills Elizabeth, Bolton Gary, Bratton Larry D, Caspers Nicole L, Dunbar James B, Harris Melissa S, Hutchings Richard H, Kennedy Robert M, Larsen Scott D, Pavlovsky Alexander, Pfefferkorn Jeffrey A, Bainbridge Graeme", "evidence": [ { "database": "UniProtKB", "id": "P04035", "url": "https://www.uniprot.org/uniprot/P04035" } ], "reference": [ { "type": "PubMed", "id": "18540668", "url": "https://glygen.org/publication/PubMed/18540668" } ] }, { "title": "Interactions of Sox10 and Egr2 in myelin gene regulation.", "journal": "Neuron glia biology", "date": "2007", "authors": "Jones EA, Jang SW, Mager GM, Chang LW, Srinivasan R, Gokey NG, Ward RM, Nagarajan R, Svaren J", "evidence": [ { "database": "Reactome", "id": "R-HSA-9619665", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9619665" } ], "reference": [ { "type": "PubMed", "id": "18634568", "url": "https://glygen.org/publication/PubMed/18634568" } ] }, { "title": "The molecular machinery of myelin gene transcription in Schwann cells.", "journal": "Glia", "date": "2008", "authors": "Svaren J, Meijer D", "evidence": [ { "database": "Reactome", "id": "R-HSA-9619665", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9619665" } ], "reference": [ { "type": "PubMed", "id": "18803322", "url": "https://glygen.org/publication/PubMed/18803322" } ] }, { "title": "SREBPs: SREBP function in glia-neuron interactions.", "journal": "The FEBS journal", "date": "2009", "authors": "Camargo N, Smit AB, Verheijen MH", "evidence": [ { "database": "Reactome", "id": "R-HSA-9619665", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9619665" } ], "reference": [ { "type": "PubMed", "id": "19143832", "url": "https://glygen.org/publication/PubMed/19143832" } ] }, { "title": "Myelin-associated glycoprotein and its axonal receptors.", "journal": "Journal of neuroscience research", "date": "2009", "authors": "Schnaar RL, Lopez PH", "evidence": [ { "database": "Reactome", "id": "R-HSA-9619665", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9619665" } ], "reference": [ { "type": "PubMed", "id": "19156870", "url": "https://glygen.org/publication/PubMed/19156870" } ] }, { "title": "A laminin-2, dystroglycan, utrophin axis is required for compartmentalization and elongation of myelin segments.", "journal": "The Journal of neuroscience : the official journal of the Society for Neuroscience", "date": "2009", "authors": "Court FA, Hewitt JE, Davies K, Patton BL, Uncini A, Wrabetz L, Feltri ML", "evidence": [ { "database": "Reactome", "id": "R-HSA-9619665", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9619665" } ], "reference": [ { "type": "PubMed", "id": "19321787", "url": "https://glygen.org/publication/PubMed/19321787" } ] }, { "title": "Dislocation of HMG-CoA reductase and Insig-1, two polytopic endoplasmic reticulum proteins, en route to proteasomal degradation.", "journal": "Molecular biology of the cell", "date": "2009", "authors": "Leichner GS, Avner R, Harats D, Roitelman J", "evidence": [ { "database": "UniProtKB", "id": "P04035", "url": "https://www.uniprot.org/uniprot/P04035" } ], "reference": [ { "type": "PubMed", "id": "19458199", "url": "https://glygen.org/publication/PubMed/19458199" } ] }, { "title": "A G protein-coupled receptor is essential for Schwann cells to initiate myelination.", "journal": "Science (New York, N.Y.)", "date": "2009", "authors": "Monk KR, Naylor SG, Glenn TD, Mercurio S, Perlin JR, Dominguez C, Moens CB, Talbot WS", "evidence": [ { "database": "Reactome", "id": "R-HSA-9619665", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9619665" } ], "reference": [ { "type": "PubMed", "id": "19745155", "url": "https://glygen.org/publication/PubMed/19745155" } ] }, { "title": "Expression and activity of the POU transcription factor SCIP.", "journal": "Science (New York, N.Y.)", "date": "1990", "authors": "Monuki ES, Kuhn R, Weinmaster G, Trapp BD, Lemke G", "evidence": [ { "database": "Reactome", "id": "R-HSA-9619665", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9619665" } ], "reference": [ { "type": "PubMed", "id": "1975954", "url": "https://glygen.org/publication/PubMed/1975954" } ] }, { "title": "Activation of Krox20 gene expression by Sox10 in myelinating Schwann cells.", "journal": "Journal of neurochemistry", "date": "2010", "authors": "Reiprich S, Kriesch J, Schreiner S, Wegner M", "evidence": [ { "database": "Reactome", "id": "R-HSA-9619665", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9619665" } ], "reference": [ { "type": "PubMed", "id": "19922439", "url": "https://glygen.org/publication/PubMed/19922439" } ] }, { "title": "Structural basis of human CYP51 inhibition by antifungal azoles.", "journal": "Journal of molecular biology", "date": "2010", "authors": "Strushkevich N, Usanov SA, Park HW", "evidence": [ { "database": "Reactome", "id": "R-HSA-9619665", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9619665" } ], "reference": [ { "type": "PubMed", "id": "20149798", "url": "https://glygen.org/publication/PubMed/20149798" } ] }, { "title": "Cholesterol and myelin biogenesis.", "journal": "Sub-cellular biochemistry", "date": "2010", "authors": "Saher G, Simons M", "evidence": [ { "database": "Reactome", "id": "R-HSA-9619665", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9619665" } ], "reference": [ { "type": "PubMed", "id": "20213556", "url": "https://glygen.org/publication/PubMed/20213556" } ] }, { "title": "Biological role of dystroglycan in Schwann cell function and its implications in peripheral nervous system diseases.", "journal": "Journal of biomedicine & biotechnology", "date": "2010", "authors": "Masaki T, Matsumura K", "evidence": [ { "database": "Reactome", "id": "R-HSA-9619665", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9619665" } ], "reference": [ { "type": "PubMed", "id": "20625412", "url": "https://glygen.org/publication/PubMed/20625412" } ] }, { "title": "Biological, clinical and population relevance of 95 loci for blood lipids.", "journal": "Nature", "date": "2010", "authors": "Teslovich TM, Musunuru K, Smith AV, Edmondson AC, Stylianou IM, Koseki M, Pirruccello JP, Ripatti S, Chasman DI, Willer CJ, Johansen CT, Fouchier SW, Isaacs A, Peloso GM, Barbalic M, Ricketts SL, Bis JC, Aulchenko YS, Thorleifsson G, Feitosa MF, Chambers J, Orho-Melander M, Melander O, Johnson T, Li X, Guo X, Li M, Shin Cho Y, Jin Go M, Jin Kim Y, Lee JY, Park T, Kim K, Sim X, Twee-Hee Ong R, Croteau-Chonka DC, Lange LA, Smith JD, Song K, Hua Zhao J, Yuan X, Luan J, Lamina C, Ziegler A, Zhang W, Zee RY, Wright AF, Witteman JC, Wilson JF, Willemsen G, Wichmann HE, Whitfield JB, Waterworth DM, Wareham NJ, Waeber G, Vollenweider P, Voight BF, Vitart V, Uitterlinden AG, Uda M, Tuomilehto J, Thompson JR, Tanaka T, Surakka I, Stringham HM, Spector TD, Soranzo N, Smit JH, Sinisalo J, Silander K, Sijbrands EJ, Scuteri A, Scott J, Schlessinger D, Sanna S, Salomaa V, Saharinen J, Sabatti C, Ruokonen A, Rudan I, Rose LM, Roberts R, Rieder M, Psaty BM, Pramstaller PP, Pichler I, Perola M, Penninx BW, Pedersen NL, Pattaro C, Parker AN, Pare G, Oostra BA, O'Donnell CJ, Nieminen MS, Nickerson DA, Montgomery GW, Meitinger T, McPherson R, McCarthy MI, McArdle W, Masson D, Martin NG, Marroni F, Mangino M, Magnusson PK, Lucas G, Luben R, Loos RJ, Lokki ML, Lettre G, Langenberg C, Launer LJ, Lakatta EG, Laaksonen R, Kyvik KO, Kronenberg F, Konig IR, Khaw KT, Kaprio J, Kaplan LM, Johansson A, Jarvelin MR, Janssens AC, Ingelsson E, Igl W, Kees Hovingh G, Hottenga JJ, Hofman A, Hicks AA, Hengstenberg C, Heid IM, Hayward C, Havulinna AS, Hastie ND, Harris TB, Haritunians T, Hall AS, Gyllensten U, Guiducci C, Groop LC, Gonzalez E, Gieger C, Freimer NB, Ferrucci L, Erdmann J, Elliott P, Ejebe KG, Doring A, Dominiczak AF, Demissie S, Deloukas P, de Geus EJ, de Faire U, Crawford G, Collins FS, Chen YD, Caulfield MJ, Campbell H, Burtt NP, Bonnycastle LL, Boomsma DI, Boekholdt SM, Bergman RN, Barroso I, Bandinelli S, Ballantyne CM, Assimes TL, Quertermous T, Altshuler D, Seielstad M, Wong TY, Tai ES, Feranil AB, Kuzawa CW, Adair LS, Taylor HA Jr, Borecki IB, Gabriel SB, Wilson JG, Holm H, Thorsteinsdottir U, Gudnason V, Krauss RM, Mohlke KL, Ordovas JM, Munroe PB, Kooner JS, Tall AR, Hegele RA, Kastelein JJ, Schadt EE, Rotter JI, Boerwinkle E, Strachan DP, Mooser V, Stefansson K, Reilly MP, Samani NJ, Schunkert H, Cupples LA, Sandhu MS, Ridker PM, Rader DJ, van Duijn CM, Peltonen L, Abecasis GR, Boehnke M, Kathiresan S", "evidence": [ { "database": "UniProtKB", "id": "P04035", "url": "https://www.uniprot.org/uniprot/P04035" } ], "reference": [ { "type": "PubMed", "id": "20686565", "url": "https://glygen.org/publication/PubMed/20686565" } ] }, { "title": "Nrg1/ErbB signaling networks in Schwann cell development and myelination.", "journal": "Seminars in cell & developmental biology", "date": "2010", "authors": "Newbern J, Birchmeier C", "evidence": [ { "database": "Reactome", "id": "R-HSA-9619665", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9619665" } ], "reference": [ { "type": "PubMed", "id": "20832498", "url": "https://glygen.org/publication/PubMed/20832498" } ] }, { "title": "Locus-wide identification of Egr2/Krox20 regulatory targets in myelin genes.", "journal": "Journal of neurochemistry", "date": "2010", "authors": "Jang SW, Srinivasan R, Jones EA, Sun G, Keles S, Krueger C, Chang LW, Nagarajan R, Svaren J", "evidence": [ { "database": "Reactome", "id": "R-HSA-9619665", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9619665" } ], "reference": [ { "type": "PubMed", "id": "21044070", "url": "https://glygen.org/publication/PubMed/21044070" } ] }, { "title": "Activation and function of immediate-early genes in the nervous system.", "journal": "Biochemistry and cell biology = Biochimie et biologie cellulaire", "date": "2011", "authors": "Perez-Cadahia B, Drobic B, Davie JR", "evidence": [ { "database": "Reactome", "id": "R-HSA-9619665", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9619665" } ], "reference": [ { "type": "PubMed", "id": "21326363", "url": "https://glygen.org/publication/PubMed/21326363" } ] }, { "title": "Epigallocatechin-3-gallate potently inhibits the in vitro activity of hydroxy-3-methyl-glutaryl-CoA reductase.", "journal": "Journal of lipid research", "date": "2011", "authors": "Cuccioloni M, Mozzicafreddo M, Spina M, Tran CN, Falconi M, Eleuteri AM, Angeletti M", "evidence": [ { "database": "UniProtKB", "id": "P04035", "url": "https://www.uniprot.org/uniprot/P04035" } ], "reference": [ { "type": "PubMed", "id": "21357570", "url": "https://glygen.org/publication/PubMed/21357570" } ] }, { "title": "Regulation of the PMP22 gene through an intronic enhancer.", "journal": "The Journal of neuroscience : the official journal of the Society for Neuroscience", "date": "2011", "authors": "Jones EA, Lopez-Anido C, Srinivasan R, Krueger C, Chang LW, Nagarajan R, Svaren J", "evidence": [ { "database": "Reactome", "id": "R-HSA-9619665", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9619665" } ], "reference": [ { "type": "PubMed", "id": "21411665", "url": "https://glygen.org/publication/PubMed/21411665" } ] }, { "title": "HDAC1 and HDAC2 control the transcriptional program of myelination and the survival of Schwann cells.", "journal": "Nature neuroscience", "date": "2011", "authors": "Jacob C, Christen CN, Pereira JA, Somandin C, Baggiolini A, Lotscher P, Ozcelik M, Tricaud N, Meijer D, Yamaguchi T, Matthias P, Suter U", "evidence": [ { "database": "Reactome", "id": "R-HSA-9619665", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9619665" } ], "reference": [ { "type": "PubMed", "id": "21423190", "url": "https://glygen.org/publication/PubMed/21423190" } ] }, { "title": "HDAC-mediated deacetylation of NF-kappaB is critical for Schwann cell myelination.", "journal": "Nature neuroscience", "date": "2011", "authors": "Chen Y, Wang H, Yoon SO, Xu X, Hottiger MO, Svaren J, Nave KA, Kim HA, Olson EN, Lu QR", "evidence": [ { "database": "Reactome", "id": "R-HSA-9619665", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9619665" } ], "reference": [ { "type": "PubMed", "id": "21423191", "url": "https://glygen.org/publication/PubMed/21423191" } ] }, { "title": "Gpr126 is essential for peripheral nerve development and myelination in mammals.", "journal": "Development (Cambridge, England)", "date": "2011", "authors": "Monk KR, Oshima K, Jors S, Heller S, Talbot WS", "evidence": [ { "database": "Reactome", "id": "R-HSA-9619665", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9619665" } ], "reference": [ { "type": "PubMed", "id": "21613327", "url": "https://glygen.org/publication/PubMed/21613327" } ] }, { "title": "Functional dissection of the Oct6 Schwann cell enhancer reveals an essential role for dimeric Sox10 binding.", "journal": "The Journal of neuroscience : the official journal of the Society for Neuroscience", "date": "2011", "authors": "Jagalur NB, Ghazvini M, Mandemakers W, Driegen S, Maas A, Jones EA, Jaegle M, Grosveld F, Svaren J, Meijer D", "evidence": [ { "database": "Reactome", "id": "R-HSA-9619665", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9619665" } ], "reference": [ { "type": "PubMed", "id": "21653862", "url": "https://glygen.org/publication/PubMed/21653862" } ] }, { "title": "Metabolically regulated endoplasmic reticulum-associated degradation of 3-hydroxy-3-methylglutaryl-CoA reductase: evidence for requirement of a geranylgeranylated protein.", "journal": "The Journal of biological chemistry", "date": "2011", "authors": "Leichner GS, Avner R, Harats D, Roitelman J", "evidence": [ { "database": "UniProtKB", "id": "P04035", "url": "https://www.uniprot.org/uniprot/P04035" } ], "reference": [ { "type": "PubMed", "id": "21778231", "url": "https://glygen.org/publication/PubMed/21778231" } ] }, { "title": "Early growth response 1--a transcription factor in the crossfire of signal transduction cascades.", "journal": "Indian journal of biochemistry & biophysics", "date": "2011", "authors": "Pagel JI, Deindl E", "evidence": [ { "database": "Reactome", "id": "R-HSA-9619665", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9619665" } ], "reference": [ { "type": "PubMed", "id": "22053691", "url": "https://glygen.org/publication/PubMed/22053691" } ] }, { "title": "Sterol-induced degradation of HMG CoA reductase depends on interplay of two Insigs and two ubiquitin ligases, gp78 and Trc8.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2011", "authors": "Jo Y, Lee PC, Sguigna PV, DeBose-Boyd RA", "evidence": [ { "database": "UniProtKB", "id": "P04035", "url": "https://www.uniprot.org/uniprot/P04035" } ], "reference": [ { "type": "PubMed", "id": "22143767", "url": "https://glygen.org/publication/PubMed/22143767" } ] }, { "title": "Distal enhancers upstream of the Charcot-Marie-Tooth type 1A disease gene PMP22.", "journal": "Human molecular genetics", "date": "2012", "authors": "Jones EA, Brewer MH, Srinivasan R, Krueger C, Sun G, Charney KN, Keles S, Antonellis A, Svaren J", "evidence": [ { "database": "Reactome", "id": "R-HSA-9619665", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9619665" } ], "reference": [ { "type": "PubMed", "id": "22180461", "url": "https://glygen.org/publication/PubMed/22180461" } ] }, { "title": "A novel evolutionarily conserved domain of cell-adhesion GPCRs mediates autoproteolysis.", "journal": "The EMBO journal", "date": "2012", "authors": "Arac D, Boucard AA, Bolliger MF, Nguyen J, Soltis SM, Sudhof TC, Brunger AT", "evidence": [ { "database": "Reactome", "id": "R-HSA-9619665", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9619665" } ], "reference": [ { "type": "PubMed", "id": "22333914", "url": "https://glygen.org/publication/PubMed/22333914" } ] }, { "title": "Genome-wide analysis of EGR2/SOX10 binding in myelinating peripheral nerve.", "journal": "Nucleic acids research", "date": "2012", "authors": "Srinivasan R, Sun G, Keles S, Jones EA, Jang SW, Krueger C, Moran JJ, Svaren J", "evidence": [ { "database": "Reactome", "id": "R-HSA-9619665", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9619665" } ], "reference": [ { "type": "PubMed", "id": "22492709", "url": "https://glygen.org/publication/PubMed/22492709" } ] }, { "title": "Drp2 and periaxin form Cajal bands with dystroglycan but have distinct roles in Schwann cell growth.", "journal": "The Journal of neuroscience : the official journal of the Society for Neuroscience", "date": "2012", "authors": "Sherman DL, Wu LM, Grove M, Gillespie CS, Brophy PJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-9619665", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9619665" } ], "reference": [ { "type": "PubMed", "id": "22764250", "url": "https://glygen.org/publication/PubMed/22764250" } ] }, { "title": "Chromatin-remodeling factor Brg1 is required for Schwann cell differentiation and myelination.", "journal": "Developmental cell", "date": "2012", "authors": "Weider M, Kuspert M, Bischof M, Vogl MR, Hornig J, Loy K, Kosian T, Muller J, Hillgartner S, Tamm ER, Metzger D, Wegner M", "evidence": [ { "database": "Reactome", "id": "R-HSA-9619665", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9619665" } ], "reference": [ { "type": "PubMed", "id": "22814607", "url": "https://glygen.org/publication/PubMed/22814607" } ] }, { "title": "A novel 3-hydroxy-3-methylglutaryl-coenzyme A reductase (HMGCR) splice variant with an alternative exon 1 potentially encoding an extended N-terminus.", "journal": "BMC Mol. Biol.", "date": "2012", "authors": "Stormo Camilla, Kringen Marianne K, Grimholt Runa M, Berg Jens P, Piehler Armin P", "evidence": [ { "database": "UniProtKB", "id": "P04035", "url": "https://www.uniprot.org/uniprot/P04035" } ], "reference": [ { "type": "PubMed", "id": "22989091", "url": "https://glygen.org/publication/PubMed/22989091" } ] }, { "title": "The UBIAD1 prenyltransferase links menaquione-4 synthesis to cholesterol metabolic enzymes.", "journal": "Hum. Mutat.", "date": "2013", "authors": "Nickerson ML, Bosley AD, Weiss JS, Kostiha BN, Hirota Y, Brandt W, Esposito D, Kinoshita S, Wessjohann L, Morham SG, Andresson T, Kruth HS, Okano T, Dean M", "evidence": [ { "database": "UniProtKB", "id": "P04035", "url": "https://www.uniprot.org/uniprot/P04035" } ], "reference": [ { "type": "PubMed", "id": "23169578", "url": "https://glygen.org/publication/PubMed/23169578" } ] }, { "title": "Toward a comprehensive characterization of a human cancer cell phosphoproteome.", "journal": "Journal of proteome research", "date": "2013", "authors": "Zhou H, Di Palma S, Preisinger C, Peng M, Polat AN, Heck AJ, Mohammed S", "evidence": [ { "database": "UniProtKB", "id": "P04035", "url": "https://www.uniprot.org/uniprot/P04035" }, { "database": "iPTMnet", "id": "P04035", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P04035" } ], "reference": [ { "type": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" } ] }, { "title": "Sticky signaling--adhesion class G protein-coupled receptors take the stage.", "journal": "Science signaling", "date": "2013", "authors": "Langenhan T, Aust G, Hamann J", "evidence": [ { "database": "Reactome", "id": "R-HSA-9619665", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9619665" } ], "reference": [ { "type": "PubMed", "id": "23695165", "url": "https://glygen.org/publication/PubMed/23695165" } ] }, { "title": "Regulation of HMG-CoA reductase: identification of the site phosphorylated by the AMP-activated protein kinase in vitro and in intact rat liver.", "journal": "The EMBO journal", "date": "1990", "authors": "Clarke PR, Hardie DG", "evidence": [ { "database": "iPTMnet", "id": "P04035-1", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P04035-1" } ], "reference": [ { "type": "PubMed", "id": "2369897", "url": "https://glygen.org/publication/PubMed/2369897" } ] }, { "title": "Octamer-binding transcription factors: genomics and functions.", "journal": "Frontiers in bioscience (Landmark edition)", "date": "2013", "authors": "Zhao FQ", "evidence": [ { "database": "Reactome", "id": "R-HSA-9619665", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9619665" } ], "reference": [ { "type": "PubMed", "id": "23747866", "url": "https://glygen.org/publication/PubMed/23747866" } ] }, { "title": "SWI/SNF enzymes promote SOX10- mediated activation of myelin gene expression.", "journal": "PloS one", "date": "2013", "authors": "Marathe HG, Mehta G, Zhang X, Datar I, Mehrotra A, Yeung KC, de la Serna IL", "evidence": [ { "database": "Reactome", "id": "R-HSA-9619665", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9619665" } ], "reference": [ { "type": "PubMed", "id": "23874858", "url": "https://glygen.org/publication/PubMed/23874858" } ] }, { "title": "N-linked glycosylation enrichment for in-depth cell surface proteomics of diffuse large B-cell lymphoma subtypes.", "journal": "Molecular & cellular proteomics : MCP", "date": "2014", "authors": "Deeb SJ, Cox J, Schmidt-Supprian M, Mann M", "evidence": [ { "database": "GlyGen", "id": "GLY_000143", "url": "https://data.glygen.org/GLY_000143" } ], "reference": [ { "type": "PubMed", "id": "24190977", "url": "https://glygen.org/publication/PubMed/24190977" } ] }, { "title": "Very large G protein-coupled receptor 1 regulates myelin-associated glycoprotein via Galphas/Galphaq-mediated protein kinases A/C.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2013", "authors": "Shin D, Lin ST, Fu YH, Ptacek LJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-9619665", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9619665" } ], "reference": [ { "type": "PubMed", "id": "24191038", "url": "https://glygen.org/publication/PubMed/24191038" } ] }, { "title": "Gpr126 functions in Schwann cells to control differentiation and myelination via G-protein activation.", "journal": "The Journal of neuroscience : the official journal of the Society for Neuroscience", "date": "2013", "authors": "Mogha A, Benesh AE, Patra C, Engel FB, Schoneberg T, Liebscher I, Monk KR", "evidence": [ { "database": "Reactome", "id": "R-HSA-9619665", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9619665" } ], "reference": [ { "type": "PubMed", "id": "24227709", "url": "https://glygen.org/publication/PubMed/24227709" } ] }, { "title": "An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.", "journal": "Journal of proteomics", "date": "2014", "authors": "Bian Y, Song C, Cheng K, Dong M, Wang F, Huang J, Sun D, Wang L, Ye M, Zou H", "evidence": [ { "database": "UniProtKB", "id": "P04035", "url": "https://www.uniprot.org/uniprot/P04035" }, { "database": "iPTMnet", "id": "P04035", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P04035" } ], "reference": [ { "type": "PubMed", "id": "24275569", "url": "https://glygen.org/publication/PubMed/24275569" } ] }, { "title": "PMP22 related neuropathies: Charcot-Marie-Tooth disease type 1A and Hereditary Neuropathy with liability to Pressure Palsies.", "journal": "Orphanet journal of rare diseases", "date": "2014", "authors": "van Paassen BW, van der Kooi AJ, van Spaendonck-Zwarts KY, Verhamme C, Baas F, de Visser M", "evidence": [ { "database": "Reactome", "id": "R-HSA-9619665", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9619665" } ], "reference": [ { "type": "PubMed", "id": "24646194", "url": "https://glygen.org/publication/PubMed/24646194" } ] }, { "title": "Periaxin and AHNAK nucleoprotein 2 form intertwined homodimers through domain swapping.", "journal": "The Journal of biological chemistry", "date": "2014", "authors": "Han H, Kursula P", "evidence": [ { "database": "Reactome", "id": "R-HSA-9619665", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9619665" } ], "reference": [ { "type": "PubMed", "id": "24675079", "url": "https://glygen.org/publication/PubMed/24675079" } ] }, { "title": "Differential Sox10 genomic occupancy in myelinating glia.", "journal": "Glia", "date": "2015", "authors": "Lopez-Anido C, Sun G, Koenning M, Srinivasan R, Hung HA, Emery B, Keles S, Svaren J", "evidence": [ { "database": "Reactome", "id": "R-HSA-9619665", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9619665" } ], "reference": [ { "type": "PubMed", "id": "25974668", "url": "https://glygen.org/publication/PubMed/25974668" } ] }, { "title": "Schwann cells and their transcriptional network: Evolution of key regulators of peripheral myelination.", "journal": "Brain research", "date": "2016", "authors": "Stolt CC, Wegner M", "evidence": [ { "database": "Reactome", "id": "R-HSA-9619665", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9619665" } ], "reference": [ { "type": "PubMed", "id": "26423937", "url": "https://glygen.org/publication/PubMed/26423937" } ] }, { "title": "MAG, myelin and overcoming growth inhibition in the CNS.", "journal": "Frontiers in molecular neuroscience", "date": "2015", "authors": "McKerracher L, Rosen KM", "evidence": [ { "database": "Reactome", "id": "R-HSA-9619665", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9619665" } ], "reference": [ { "type": "PubMed", "id": "26441514", "url": "https://glygen.org/publication/PubMed/26441514" } ] }, { "title": "Gene regulation in the immediate-early response process.", "journal": "Advances in biological regulation", "date": "2016", "authors": "Bahrami S, Drablos F", "evidence": [ { "database": "Reactome", "id": "R-HSA-9619665", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9619665" } ], "reference": [ { "type": "PubMed", "id": "27220739", "url": "https://glygen.org/publication/PubMed/27220739" } ] }, { "title": "Tead1 regulates the expression of Peripheral Myelin Protein 22 during Schwann cell development.", "journal": "Human molecular genetics", "date": "2016", "authors": "Lopez-Anido C, Poitelon Y, Gopinath C, Moran JJ, Ma KH, Law WD, Antonellis A, Feltri ML, Svaren J", "evidence": [ { "database": "Reactome", "id": "R-HSA-9619665", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9619665" } ], "reference": [ { "type": "PubMed", "id": "27288457", "url": "https://glygen.org/publication/PubMed/27288457" } ] }, { "title": "Adhesion G-protein coupled receptors and extracellular matrix proteins: Roles in myelination and glial cell development.", "journal": "Developmental dynamics : an official publication of the American Association of Anatomists", "date": "2017", "authors": "Mehta P, Piao X", "evidence": [ { "database": "Reactome", "id": "R-HSA-9619665", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9619665" } ], "reference": [ { "type": "PubMed", "id": "27859941", "url": "https://glygen.org/publication/PubMed/27859941" } ] }, { "title": "Schwann cell development, maturation and regeneration: a focus on classic and emerging intracellular signaling pathways.", "journal": "Neural regeneration research", "date": "2017", "authors": "Castelnovo LF, Bonalume V, Melfi S, Ballabio M, Colleoni D, Magnaghi V", "evidence": [ { "database": "Reactome", "id": "R-HSA-9619665", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9619665" } ], "reference": [ { "type": "PubMed", "id": "28852375", "url": "https://glygen.org/publication/PubMed/28852375" } ] }, { "title": "Reanalysis of Global Proteomic and Phosphoproteomic Data Identified a Large Number of Glycopeptides.", "journal": "Analytical chemistry", "date": "2018", "authors": "Hu Y, Shah P, Clark DJ, Ao M, Zhang H", "evidence": [ { "database": "GlyConnect", "id": "983", "url": "https://glyconnect.expasy.org/browser/proteins/983" } ], "reference": [ { "type": "PubMed", "id": "29741879", "url": "https://glygen.org/publication/PubMed/29741879" } ] }, { "title": "Maf links Neuregulin1 signaling to cholesterol synthesis in myelinating Schwann cells.", "journal": "Genes & development", "date": "2018", "authors": "Kim M, Wende H, Walcher J, Kuhnemund J, Cheret C, Kempa S, McShane E, Selbach M, Lewin GR, Birchmeier C", "evidence": [ { "database": "Reactome", "id": "R-HSA-9619665", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9619665" } ], "reference": [ { "type": "PubMed", "id": "29748249", "url": "https://glygen.org/publication/PubMed/29748249" } ] }, { "title": "Human 3-hydroxy-3-methylglutaryl coenzyme A reductase. Conserved domains responsible for catalytic activity and sterol-regulated degradation.", "journal": "The Journal of biological chemistry", "date": "1985", "authors": "Luskey KL, Stevens B", "evidence": [ { "database": "UniProtKB", "id": "P04035", "url": "https://www.uniprot.org/uniprot/P04035" } ], "reference": [ { "type": "PubMed", "id": "2991281", "url": "https://glygen.org/publication/PubMed/2991281" } ] }, { "title": "Aspartate Residues Far from the Active Site Drive O-GlcNAc Transferase Substrate Selection.", "journal": "Journal of the American Chemical Society", "date": "2019", "authors": "Joiner CM, Levine ZG, Aonbangkhen C, Woo CM, Walker S", "evidence": [ { "database": "O-GlcNAc Database", "id": "P04035", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P04035" }, { "database": "O-GlcNAc Atlas", "id": "P04035", "url": "https://oglcnac.org/atlas/detail/P04035" } ], "reference": [ { "type": "PubMed", "id": "31373491", "url": "https://glygen.org/publication/PubMed/31373491" } ] }, { "title": "Extra Virgin Olive Oil Phenol Extracts Exert Hypocholesterolemic Effects through the Modulation of the LDLR Pathway: In Vitro and Cellular Mechanism of Action Elucidation.", "journal": "Nutrients", "date": "2020-06-09", "authors": "Lammi Carmen, Bellumori Maria, Cecchi Lorenzo, Bartolomei Martina, Bollati Carlotta, Clodoveo Maria Lisa, Corbo Filomena, Arnoldi Anna, Mulinacci Nadia", "evidence": [ { "database": "iPTMnet", "id": "P04035", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P04035" } ], "reference": [ { "type": "PubMed", "id": "32526887", "url": "https://glygen.org/publication/PubMed/32526887" } ] }, { "title": "Novel polymorphism of the HMGCR gene related to the risk of diabetes in premature triple-vessel disease patients.", "journal": "The journal of gene medicine", "date": "2022", "authors": "Zhao X, Tang X, Xu J, Liu R, Huang K, Li J, Li Y, Jiang L, Xu L, Zhang Y, Wang D, Hui R, Gao R, Song L, Yuan J", "evidence": [ { "database": "RefSeq", "id": "NP_000850", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000850" } ], "reference": [ { "type": "PubMed", "id": "35998373", "url": "https://glygen.org/publication/PubMed/35998373" } ] }, { "title": "Limb girdle muscular disease caused by HMGCR mutation and statin myopathy treatable with mevalonolactone.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2023-02-14", "authors": "Yogev Yuval, Shorer Zamir, Koifman Arie, Wormser Ohad, Drabkin Max, Halperin Daniel, Dolgin Vadim, Proskorovski-Ohayon Regina, Hadar Noam, Davidov Geula, Nudelman Hila, Zarivach Raz, Shelef Ilan, Perez Yonatan, Birk Ohad S", "evidence": [ { "database": "UniProtKB", "id": "P04035", "url": "https://www.uniprot.org/uniprot/P04035" }, { "database": "RefSeq", "id": "NP_000850", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000850" } ], "reference": [ { "type": "PubMed", "id": "36745799", "url": "https://glygen.org/publication/PubMed/36745799" } ] }, { "title": "Bi-allelic variants in HMGCR cause an autosomal-recessive progressive limb-girdle muscular dystrophy.", "journal": "American journal of human genetics", "date": "2023-06-01", "authors": "Morales-Rosado Joel A, Schwab Tanya L, Macklin-Mantia Sarah K, Foley A Reghan, Pinto E Vairo Filippo, Pehlivan Davut, Donkervoort Sandra, Rosenfeld Jill A, Boyum Grace E, Hu Ying, Cong Anh T Q, Lotze Timothy E, Mohila Carrie A, Saade Dimah, Bharucha-Goebel Diana, Chao Katherine R, Grunseich Christopher, Bruels Christine C, Littel Hannah R, Estrella Elicia A, Pais Lynn, Kang Peter B, Zimmermann Michael T, Lupski James R, Lee Brendan, Schellenberg Matthew J, Clark Karl J, Wierenga Klaas J, B\u00f6nnemann Carsten G, Klee Eric W", "evidence": [ { "database": "UniProtKB", "id": "P04035", "url": "https://www.uniprot.org/uniprot/P04035" } ], "reference": [ { "type": "PubMed", "id": "37167966", "url": "https://glygen.org/publication/PubMed/37167966" } ] }, { "title": "HMGCR gene polymorphism is associated with residual cholesterol risk in premature triple-vessel disease patients treated with moderate-intensity statins.", "journal": "BMC cardiovascular disorders", "date": "2023-06-24", "authors": "Li Jiawen, Tang Xiaofang, Xu Jingjing, Liu Ru, Jiang Lin, Xu Lianjun, Tian Jian, Feng Xinxing, Wu Yajie, Zhang Yin, Wang Dong, Sun Kai, Xu Bo, Zhao Wei, Hui Rutai, Gao Runlin, Song Lei, Yuan Jinqing, Zhao Xueyan", "evidence": [ { "database": "RefSeq", "id": "NP_000850", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000850" } ], "reference": [ { "type": "PubMed", "id": "37355634", "url": "https://glygen.org/publication/PubMed/37355634" } ] }, { "title": "Association between HMGCR, CRP, and CETP gene polymorphisms and metabolic/inflammatory serum profile in healthy adolescents.", "journal": "Journal of translational medicine", "date": "2023-10-13", "authors": "Perrone Benedetta, Ruffo Paola, Augimeri Giuseppina, Sisci Diego, Sinicropi Maria Stefania, Tripepi Giovanni, Mamm\u00ec Corrado, Bonofiglio Daniela, Conforti Francesca Luisa", "evidence": [ { "database": "RefSeq", "id": "NP_000850", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000850" } ], "reference": [ { "type": "PubMed", "id": "37833739", "url": "https://glygen.org/publication/PubMed/37833739" } ] }, { "title": "Association of NPC1L1 and HMGCR gene polymorphisms with coronary artery calcification in patients with premature triple-vessel coronary disease.", "journal": "BMC medical genomics", "date": "2024-01-17", "authors": "Li Yulong, Li Jiawen, Tang Xiaofang, Xu Jingjing, Liu Ru, Jiang Lin, Tian Jian, Zhang Yin, Wang Dong, Sun Kai, Xu Bo, Zhao Wei, Hui Rutai, Gao Runlin, Song Lei, Yuan Jinqing, Zhao Xueyan", "evidence": [ { "database": "RefSeq", "id": "NP_000850", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000850" } ], "reference": [ { "type": "PubMed", "id": "38233830", "url": "https://glygen.org/publication/PubMed/38233830" } ] }, { "title": "Studying the O-GlcNAcome of human placentas using banked tissue samples.", "journal": "Glycobiology", "date": "2024-01-22", "authors": "Luna Sarai, Malard Florian, Pereckas Michaela, Aoki Mayumi, Aoki Kazahiro, Olivier-Van Stichelen Stephanie", "evidence": [ { "database": "O-GlcNAc Database", "id": "P04035", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P04035" } ], "reference": [ { "type": "PubMed", "id": "38253038", "url": "https://glygen.org/publication/PubMed/38253038" } ] }, { "title": "Multivalent feedback regulation of HMG CoA reductase, a control mechanism coordinating isoprenoid synthesis and cell growth.", "journal": "Journal of lipid research", "date": "1980-07", "authors": "Brown M S, Goldstein J L", "evidence": [ { "database": "UniProtKB", "id": "P04035", "url": "https://www.uniprot.org/uniprot/P04035" } ], "reference": [ { "type": "PubMed", "id": "6995544", "url": "https://glygen.org/publication/PubMed/6995544" } ] }, { "title": "Dystroglycan is a binding protein of laminin and merosin in peripheral nerve.", "journal": "FEBS letters", "date": "1994", "authors": "Yamada H, Shimizu T, Tanaka T, Campbell KP, Matsumura K", "evidence": [ { "database": "Reactome", "id": "R-HSA-9619665", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9619665" } ], "reference": [ { "type": "PubMed", "id": "7925941", "url": "https://glygen.org/publication/PubMed/7925941" } ] }, { "title": "Krox-20 controls myelination in the peripheral nervous system.", "journal": "Nature", "date": "1994", "authors": "Topilko P, Schneider-Maunoury S, Levi G, Baron-Van Evercooren A, Chennoufi AB, Seitanidou T, Babinet C, Charnay P", "evidence": [ { "database": "Reactome", "id": "R-HSA-9619665", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9619665" } ], "reference": [ { "type": "PubMed", "id": "7935840", "url": "https://glygen.org/publication/PubMed/7935840" } ] }, { "title": "Sources of cholesterol for kidney and nerve during development.", "journal": "Journal of lipid research", "date": "1994", "authors": "Jurevics HA, Morell P", "evidence": [ { "database": "Reactome", "id": "R-HSA-9619665", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9619665" } ], "reference": [ { "type": "PubMed", "id": "8138712", "url": "https://glygen.org/publication/PubMed/8138712" } ] }, { "title": "A role for the dystrophin-glycoprotein complex as a transmembrane linker between laminin and actin.", "journal": "The Journal of cell biology", "date": "1993", "authors": "Ervasti JM, Campbell KP", "evidence": [ { "database": "Reactome", "id": "R-HSA-9619665", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9619665" } ], "reference": [ { "type": "PubMed", "id": "8349731", "url": "https://glygen.org/publication/PubMed/8349731" } ] }, { "title": "The ubiquitously expressed human CYP51 encodes lanosterol 14 alpha-demethylase, a cytochrome P450 whose expression is regulated by oxysterols.", "journal": "Archives of biochemistry and biophysics", "date": "1996", "authors": "Stromstedt M, Rozman D, Waterman MR", "evidence": [ { "database": "Reactome", "id": "R-HSA-9619665", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9619665" } ], "reference": [ { "type": "PubMed", "id": "8619637", "url": "https://glygen.org/publication/PubMed/8619637" } ] }, { "title": "Characterization of dp6troglycan-laminin interaction in peripheral nerve.", "journal": "Journal of neurochemistry", "date": "1996", "authors": "Yamada H, Chiba A, Endo T, Kobata A, Anderson LV, Hori H, Fukuta-Ohi H, Kanazawa I, Campbell KP, Shimizu T, Matsumura K", "evidence": [ { "database": "Reactome", "id": "R-HSA-9619665", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9619665" } ], "reference": [ { "type": "PubMed", "id": "8627307", "url": "https://glygen.org/publication/PubMed/8627307" } ] }, { "title": "A direct role for sterol regulatory element binding protein in activation of 3-hydroxy-3-methylglutaryl coenzyme A reductase gene.", "journal": "The Journal of biological chemistry", "date": "1996", "authors": "Vallett SM, Sanchez HB, Rosenfeld JM, Osborne TF", "evidence": [ { "database": "Reactome", "id": "R-HSA-9619665", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9619665" } ], "reference": [ { "type": "PubMed", "id": "8647822", "url": "https://glygen.org/publication/PubMed/8647822" } ] }, { "title": "The POU factor Oct-6 and Schwann cell differentiation.", "journal": "Science (New York, N.Y.)", "date": "1996", "authors": "Jaegle M, Mandemakers W, Broos L, Zwart R, Karis A, Visser P, Grosveld F, Meijer D", "evidence": [ { "database": "Reactome", "id": "R-HSA-9619665", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9619665" } ], "reference": [ { "type": "PubMed", "id": "8662541", "url": "https://glygen.org/publication/PubMed/8662541" } ] }, { "title": "The human connexin32 gene is transcribed from two tissue-specific promoters.", "journal": "Bioscience reports", "date": "1996", "authors": "Neuhaus IM, Bone L, Wang S, Ionasescu V, Werner R", "evidence": [ { "database": "Reactome", "id": "R-HSA-9619665", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9619665" } ], "reference": [ { "type": "PubMed", "id": "8842374", "url": "https://glygen.org/publication/PubMed/8842374" } ] }, { "title": "Differential regulation of the zinc finger genes Krox-20 and Krox-24 (Egr-1) suggests antagonistic roles in Schwann cells.", "journal": "Journal of neuroscience research", "date": "1997", "authors": "Topilko P, Levi G, Merlo G, Mantero S, Desmarquet C, Mancardi G, Charnay P", "evidence": [ { "database": "Reactome", "id": "R-HSA-9619665", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9619665" } ], "reference": [ { "type": "PubMed", "id": "9418958", "url": "https://glygen.org/publication/PubMed/9418958" } ] }, { "title": "Regenerating sciatic nerve does not utilize circulating cholesterol.", "journal": 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expressing individual nuclear sterol regulatory element-binding proteins.", "journal": "The Journal of biological chemistry", "date": "1998", "authors": "Pai JT, Guryev O, Brown MS, Goldstein JL", "evidence": [ { "database": "Reactome", "id": "R-HSA-9619665", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9619665" } ], "reference": [ { "type": "PubMed", "id": "9748295", "url": "https://glygen.org/publication/PubMed/9748295" } ] }, { "title": "Inducible and constitutive transcription factors in the mammalian nervous system: control of gene expression by Jun, Fos and Krox, and CREB/ATF proteins.", "journal": "Brain research. Brain research reviews", "date": "1998", "authors": "Herdegen T, Leah JD", "evidence": [ { "database": "Reactome", "id": "R-HSA-9619665", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9619665" } ], "reference": [ { "type": "PubMed", "id": "9858769", "url": "https://glygen.org/publication/PubMed/9858769" } ] } ], "pathway": [ { "id": "hsa:3156", "name": "", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:3156", "resource": "KEGG Pathway" }, { "id": "R-HSA-9619665", "name": "EGR2 and SOX10-mediated initiation of Schwann cell myelination", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9619665", "resource": "Reactome", "description": "EGR2 and SOX10-mediated initiation of Schwann cell myelination" } ], "orthologs": [ { "uniprot_canonical_ac": "P14773-1", "protein_name": "3-hydroxy-3-methylglutaryl-coenzyme A reductase", "gene_name": "Hmgcr", "tax_id": 7227, "organism": "Drosophila melanogaster", "sequence": { "sequence": "MIGRLFRAHGEFCASHPWEVIVALLTITACMLTVDKNNTLDASSGLGTATASAAAAGGSGSGAGSGASGTIPPSSMGGSATSSRHRPCHGWSQSCDGLEAEYNAADVILMTIVRCTAVLYCYYQFCSLHRLGSKYVLGIAGLFTVFSSFIFTTAIIKFLGSDISELKDALFFLLLVIDLSNSGRLAQLALSGSNQAEVTQNIARGLELLGPAISLDTIVEVLLVGVGTLSGVQRLEVLCMFAVLSVLVNYVVFMTFYPACLSLIFDLSRSGVDMSVVREKAKGSLLLKSLTEEEQKANPVLQRVKLIMTTGLMAVHIYSRVAFSGSDYDAVDKTLTPTLSLNVSNNRTESGEIADIIIKWLTMSADHIVISIVLIALVVKFICFDNRDPLPDQLRQSGPVAIAAKASQTTPIDEEHVEQEKDTENSAAVRTLLFTIEDQSSANASTQTDLLPLRHRLVGPIKPPRPVQECLDILNSTEEGSGPAALSDEEIVSIVHAGGTHCPLHKIESVLDDPERGVRIRRQIIGSRAKMPVGRLDVLPYEHFDYRKVLNACCENVLGYVPIPVGYAGPLLLDGETYYVPMATTEGALVASTNRGCKALSVRGVRSVVEDVGMTRAPCVRFPSVARAAEAKSWIENDENYRVVKTEFDSTSRFGRLKDCHIAMDGPQLYIRFVAITGDAMGMNMVSKGAEMALRRIQLQFPDMQIISLSGNFCCDKKPAAINWIKGRGKRVVTECTISAATLRSVLKTDAKTLVECNKLKNMGGSAMAGSIGGNNAHAANMVTAVFLATGQDPAQNVTSSNCSTAMECWAENSEDLYMTCTMPSLEVGTVGGGTGLPGQSACLEMLGVRGAHATRPGDNAKKLAQIVCATVMAGELSLMAALVNSDLVKSHMRHNRSSIAVNSANNPLNVTVSSCSTIS", "length": 920 }, "evidence": [ { "id": "P04035", "url": 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"database": "MGI" } ], "common_name": "Rat" }, { "uniprot_canonical_ac": "Q01237-1", "protein_name": "3-hydroxy-3-methylglutaryl-coenzyme A reductase", "gene_name": "Hmgcr", "tax_id": 10090, "organism": "Mus musculus", "sequence": { "sequence": 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"database": "MGI" }, { "id": "P04035", "url": "https://omabrowser.org/oma/group/P04035/", "database": "OMA" } ], "common_name": "Mouse" } ], "go_annotation": { "categories": [ { "name": "Biological Process", "total": 10, "go_terms": [ { "name": "coenzyme A metabolic process", "id": "GO:0015936", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015936", "evidence": [ { "database": "UniProtKB", "id": "P04035", "url": "https://www.uniprot.org/uniprot/P04035" } ], "pmid": "" }, { "name": "negative regulation of protein secretion", "id": "GO:0050709", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050709", "evidence": [ { "database": "UniProtKB", "id": "P04035", "url": "https://www.uniprot.org/uniprot/P04035" } ], "pmid": "" }, { "name": "visual learning", "id": "GO:0008542", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008542", "evidence": [ { "database": "UniProtKB", "id": "P04035", "url": "https://www.uniprot.org/uniprot/P04035" } ], "pmid": "" }, { "name": "sterol biosynthetic process", "id": "GO:0016126", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016126", "evidence": [ { "database": "UniProtKB", "id": "P04035", "url": "https://www.uniprot.org/uniprot/P04035" } ], "pmid": "" }, { "name": "cholesterol biosynthetic process", "id": "GO:0006695", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0006695", "evidence": [ { "database": "UniProtKB", "id": "P04035", "url": "https://www.uniprot.org/uniprot/P04035" } ], "pmid": "" }, { "name": "negative regulation of protein catabolic process", "id": "GO:0042177", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042177", "evidence": [ { "database": "UniProtKB", "id": "P04035", "url": "https://www.uniprot.org/uniprot/P04035" } ], "pmid": "" }, { "name": "long-term synaptic potentiation", "id": "GO:0060291", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060291", "evidence": [ { "database": "UniProtKB", "id": "P04035", "url": "https://www.uniprot.org/uniprot/P04035" } ], "pmid": "" }, { "name": "regulation of ERK1 and ERK2 cascade", "id": "GO:0070372", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070372", "evidence": [ { "database": "UniProtKB", "id": "P04035", "url": "https://www.uniprot.org/uniprot/P04035" } ], "pmid": "" }, { "name": "negative regulation of amyloid-beta clearance", "id": "GO:1900222", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1900222", "evidence": [ { "database": "UniProtKB", "id": "P04035", "url": "https://www.uniprot.org/uniprot/P04035" } ], "pmid": "" }, { "name": "isoprenoid biosynthetic process", "id": "GO:0008299", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0008299", "evidence": [ { "database": "UniProtKB", "id": "P04035", "url": "https://www.uniprot.org/uniprot/P04035" } ], "pmid": "" } ] }, { "name": "Molecular Function", "total": 5, "go_terms": [ { "name": "hydroxymethylglutaryl-CoA reductase (NADPH) activity", "id": "GO:0004420", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004420", "evidence": [ { "database": "UniProtKB", "id": "P04035", "url": "https://www.uniprot.org/uniprot/P04035" } ], "pmid": "" }, { "name": "coenzyme A binding", "id": "GO:0120225", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0120225", "evidence": [ { "database": "UniProtKB", "id": "P04035", "url": "https://www.uniprot.org/uniprot/P04035" } ], "pmid": "" }, { "name": "GTPase regulator activity", "id": "GO:0030695", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030695", "evidence": [ { "database": "UniProtKB", "id": "P04035", "url": "https://www.uniprot.org/uniprot/P04035" } ], "pmid": "" }, { "name": "NADPH binding", "id": "GO:0070402", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070402", "evidence": [ { "database": "UniProtKB", "id": "P04035", "url": "https://www.uniprot.org/uniprot/P04035" } ], "pmid": "" }, { "name": "NADP binding", "id": "GO:0050661", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050661", "evidence": [ { "database": "UniProtKB", "id": "P04035", "url": "https://www.uniprot.org/uniprot/P04035" } ], "pmid": "" } ] }, { "name": "Cellular Component", "total": 4, "go_terms": [ { "name": "peroxisomal membrane", "id": "GO:0005778", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005778", "evidence": [ { "database": "UniProtKB", "id": "P04035", "url": "https://www.uniprot.org/uniprot/P04035" } ], "pmid": "" }, { "name": "endoplasmic reticulum", "id": "GO:0005783", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005783", "evidence": [ { "database": "UniProtKB", "id": "P04035", "url": "https://www.uniprot.org/uniprot/P04035" } ], "pmid": "" }, { "name": "endoplasmic reticulum membrane", "id": "GO:0005789", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005789", "evidence": [ { "database": "UniProtKB", "id": "P04035", "url": "https://www.uniprot.org/uniprot/P04035" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "P04035", "url": "https://www.uniprot.org/uniprot/P04035" } ], "pmid": "" } ] } ] }, "pro_annotation": [], "site_annotation": [ { "start_pos": 281, "end_pos": 283, "annotation": "n_glycosylation_sequon" }, { "start_pos": 296, "end_pos": 298, "annotation": "n_glycosylation_sequon" }, { "start_pos": 419, "end_pos": 421, "annotation": "n_glycosylation_sequon" }, { "start_pos": 518, "end_pos": 520, "annotation": "n_glycosylation_sequon" }, { "start_pos": 870, "end_pos": 872, "annotation": "n_glycosylation_sequon" } ], "ptm_annotation": [ { "annotation": "N-glycosylated. Deglycosylated by NGLY1 on release from the endoplasmic reticulum (ER) in a sterol-mediated manner.", "evidence": [ { "database": "UniProtKB", "id": "P04035", "url": "https://www.uniprot.org/uniprot/P04035" }, { "database": "PubMed", "id": "19458199", "url": "https://glygen.org/publication/PubMed/19458199" } ] }, { "annotation": "Undergoes sterol-mediated ubiquitination and ER-associated degradation (ERAD) (PubMed:12535518, PubMed:19458199, PubMed:21778231). Accumulation of sterols in the endoplasmic reticulum (ER) membrane, triggers binding of the reductase to the ER membrane protein INSIG1 or INSIG2 (PubMed:12535518, PubMed:19458199, PubMed:21778231, PubMed:22143767). The INSIG1 binding leads to the recruitment of the ubiquitin ligase, AMFR/gp78, RNF139 or RNF145, initiating ubiquitination of the reductase (PubMed:12535518, PubMed:19458199, PubMed:21778231). The ubiquitinated reductase is then extracted from the ER membrane and delivered to cytosolic 26S proteosomes by a mechanism probably mediated by the ATPase Valosin-containing protein VCP/p97 (PubMed:12535518, PubMed:19458199, PubMed:21778231). The INSIG2-binding leads to the recruitment of the ubiquitin ligase RNF139, initiating ubiquitination of the reductase (PubMed:22143767). Lys-248 is the main site of ubiquitination (PubMed:19458199). Ubiquitination is enhanced by the presence of a geranylgeranylated protein (PubMed:21778231).", "evidence": [ { "database": "UniProtKB", "id": "P04035", "url": "https://www.uniprot.org/uniprot/P04035" }, { "database": "PubMed", "id": "19458199", "url": "https://glygen.org/publication/PubMed/19458199" }, { "database": "PubMed", "id": "12535518", "url": "https://glygen.org/publication/PubMed/12535518" }, { "database": "PubMed", "id": "22143767", "url": "https://glygen.org/publication/PubMed/22143767" }, { "database": "PubMed", "id": "21778231", "url": "https://glygen.org/publication/PubMed/21778231" } ] } ], "interactions": [], "reactions": [ { "id": "15989", "name": "", "equation": "(R)-mevalonate + CoA + 2 NADP(+) = (3S)-hydroxy-3-methylglutaryl-CoA + 2 H(+) + 2 NADPH", "summary": "", "cellular_location": "", "input_participant_list": [], "output_participant_list": [], "enzyme_list": [ "P51639-1", "P04035-1", "Q01237-1", "P12683-1", "P12684-1", "P34135-1", "P34136-1", "P14773-1" ], "evidence": [ { "id": "15989", "database": "Rhea", "url": "https://www.rhea-db.org/rhea/15989" } ] }, { "id": "R-HSA-9621410", "name": "HMGCR gene expression", "equation": "", "summary": "Cholesterol is highly enriched in the Schwann cell membrane and it plays an essential role in the maturation of MPZ, a key protein component of the compact myelin sheath (Saher and Simons, 2010). The cholesterol of the myelin sheath is synthesized within the Schwann cells, rather than being absorbed from the blood (Jurevics and Morell, 1994; Jurevics et al, 1998). Consistent with this, a number of genes involved in the cholesterol biosynthesis pathway are upregulated during the myelination program, including HMG synthase and HMG coenzyme-A reductase (HMGCR) (Nagarjan et al, 2001; Verheijen et al, 2003; Le Blanc et al, 2005; Jang et al, 2010; Kim et al, 2016; reviewed in Camargo et al, 2009).; Myelin-specific expression of HMGCR depends on binding of sterol response binding factor 2 (SREBF2) to its cognate SRE site in the HMGCR promoter (Vallett et al, 1996; Pai et al, 1998; LeBlanc et al, 2005). SREBF2-dependent expression of HMGCR is increased with co-expression of EGR2, suggesting that the transcription factors synergistically activate expression (LeBlanc et al, 2005).", "cellular_location": "endoplasmic reticulum membrane, nucleoplasm", "input_participant_list": [], "output_participant_list": [ "R-HSA-9621345" ], "enzyme_list": [ "P11161-1", "P04035-1" ], "evidence": [ { "id": "R-HSA-9621410", "database": "Reactome", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9621410" } ] } ], "reaction_participants": [ { "participant_id": "R-HSA-9621345", "participant_name": "HMGCR [endoplasmic reticulum membrane]", "crossref": [ { "id": "2R4F", "database": "PDB", "url": "" }, { "id": "3CD0", "database": "PDB", "url": "" }, { "id": "ENST00000681410", "database": "Ensembl", "url": "" }, { "id": "ENST00000511206", "database": "Ensembl", "url": "" }, { "id": "ENST00000680940", "database": "Ensembl", "url": "" }, { "id": "NP_000850.1", "database": "RefSeq", "url": "" }, { "id": "639", "database": "Guide to Pharmacology - Targets", "url": "" }, { "id": "3BGL", "database": "PDB", "url": "" }, { "id": "ENST00000343975", "database": "Ensembl", "url": "" }, { "id": "1DQ8", "database": "PDB", "url": "" }, { "id": "P04035", "database": "GeneCards", "url": "" }, { "id": "ENSP00000505561", "database": "Ensembl", "url": "" }, { "id": "1DQA", "database": "PDB", "url": "" }, { "id": "P04035", "database": "ZINC target", "url": "" }, { "id": "HMDH_HUMAN", "database": "ZINC - Biogenic", "url": "" }, { "id": "ENSG00000113161-HMGCR", "database": "HPA", "url": "" }, { "id": "1HW9", "database": "PDB", "url": "" }, { "id": "1HWK", "database": "PDB", "url": "" }, { "id": "1HWL", "database": "PDB", "url": "" }, { "id": "3CCT", "database": "PDB", "url": "" }, { "id": "XP_011541660.1", "database": "RefSeq", "url": "" }, { "id": "1HWJ", "database": "PDB", "url": "" }, { "id": "P04035", "database": "PRO", "url": "" }, { "id": "1HW8", "database": "PDB", "url": "" }, { "id": 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"2Q1L", "database": "PDB", "url": "" }, { "id": "3CCZ", "database": "PDB", "url": "" }, { "id": "ENSP00000505805", "database": "Ensembl", "url": "" }, { "id": "2Q6B", "database": "PDB", "url": "" }, { "id": "3CD5", "database": "PDB", "url": "" }, { "id": "NP_001124468.1", "database": "RefSeq", "url": "" }, { "id": "P04035", "database": "Pharos - Targets", "url": "" }, { "id": "1HWI", "database": "PDB", "url": "" }, { "id": "ENSP00000426745", "database": "Ensembl", "url": "" }, { "id": "ENST00000681271", "database": "Ensembl", "url": "" }, { "id": "HMDH_HUMAN", "database": "ZINC - Metabolites", "url": "" }, { "id": "XP_011541659.1", "database": "RefSeq", "url": "" }, { "id": "HMDH_HUMAN", "database": "ZINC - Predictions - Purchasable", "url": "" } ] } ], "reaction_enzymes": [ { "uniprot_ac": "P04035", "gene_name": "HMGCR", "activity": [ { "ec_number": "1.1.1.34", "activity": "(R)-mevalonate + CoA + 2 NADP(+) = (3S)-hydroxy-3-methylglutaryl-CoA + 2 H(+) + 2 NADPH.", "evidence": [ { "id": "P04035", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P04035" } ] }, { "ec_number": "1.1.1.34", "activity": "", "evidence": [ { "id": "P04035", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P04035" } ] } ] }, { "uniprot_ac": "P11161", "gene_name": "EGR2", "activity": [ { "ec_number": "2.3.2.-", "activity": "", "evidence": [ { "id": "P11161", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P11161" } ] } ] }, { "uniprot_ac": "P12683", "gene_name": "HMG1", "activity": [ { "ec_number": "1.1.1.34", "activity": "(R)-mevalonate + CoA + 2 NADP(+) = (3S)-hydroxy-3-methylglutaryl-CoA + 2 H(+) + 2 NADPH.", "evidence": [ { "id": "P12683", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P12683" } ] }, { "ec_number": "1.1.1.34", "activity": "", "evidence": [ { "id": "P12683", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P12683" } ] } ] }, { "uniprot_ac": "P12684", "gene_name": "HMG2", "activity": [ { 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(3S)-hydroxy-3-methylglutaryl-CoA + 2 H(+) + 2 NADPH.", "evidence": [ { "id": "P34135", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P34135" } ] }, { "ec_number": "1.1.1.34", "activity": "", "evidence": [ { "id": "P34135", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P34135" } ] } ] }, { "uniprot_ac": "P34136", "gene_name": "hmgB", "activity": [ { "ec_number": "1.1.1.34", "activity": "(R)-mevalonate + CoA + 2 NADP(+) = (3S)-hydroxy-3-methylglutaryl-CoA + 2 H(+) + 2 NADPH.", "evidence": [ { "id": "P34136", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P34136" } ] }, { "ec_number": "1.1.1.34", "activity": "", "evidence": [ { "id": "P34136", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P34136" } ] } ] }, { "uniprot_ac": "P51639", "gene_name": "Hmgcr", "activity": [ { "ec_number": "1.1.1.34", "activity": "(R)-mevalonate + CoA + 2 NADP(+) = (3S)-hydroxy-3-methylglutaryl-CoA + 2 H(+) + 2 NADPH.", "evidence": [ { "id": "P51639", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P51639" } ] }, { "ec_number": "1.1.1.34", "activity": "", "evidence": [ { "id": "P51639", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P51639" } ] } ] }, { "uniprot_ac": "Q01237", "gene_name": "Hmgcr", "activity": [ { "ec_number": "1.1.1.34", "activity": "(R)-mevalonate + CoA + 2 NADP(+) = (3S)-hydroxy-3-methylglutaryl-CoA + 2 H(+) + 2 NADPH.", "evidence": [ { "id": "Q01237", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q01237" } ] }, { "ec_number": "1.1.1.34", "activity": "", "evidence": [ { "id": "Q01237", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q01237" } ] } ] } ], "biomarkers": [], "synthesized_glycans": [], "cluster_types": [ { "name": "isoformset.uniprotkb", "label": "Isoforms" }, { "name": "homologset.oma", "label": "OMA Homologs" }, { "name": "homologset.mgi", "label": "MGI Homologs" } ], "sequence_features": { "n_linked_sites": [ 281, 296 ], "o_linked_sites": [ 705, 852 ], "snv_sites": [ 133, 183, 281, 283, 354, 413, 424, 531, 660, 705, 736, 773, 885 ], "glycation_sites": [], "phosphorylation_sites": [ 271, 298, 504, 872 ], "sequon_annotation_sites": [ { "start_pos": 281, "end_pos": 283 }, { "start_pos": 296, "end_pos": 298 }, { "start_pos": 419, "end_pos": 421 }, { "start_pos": 518, "end_pos": 520 }, { "start_pos": 870, "end_pos": 872 } ] }, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 7 }, { "field": "total_sites", "count": 4 }, { "field": "n_linked_glycans", "count": 3 }, { "field": "n_linked_glycan_sites", "count": 3 }, { "field": "o_linked_glycans", "count": 1 }, { "field": "o_linked_glycan_sites", "count": 2 } ], "sort_fields": [ "glytoucan_ac", "type", "subtype", "site_category", "site_seq", "relation", "comment", "start_pos", "start_aa", "end_pos", "end_aa", "residue", "site_lbl" ] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": 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