Gene Gene information from NCBI Gene database.
Entrez ID 3157
Gene name 3-hydroxy-3-methylglutaryl-CoA synthase 1
Gene symbol HMGCS1
Synonyms (NCBI Gene)
HMGCS
Chromosome 5
Chromosome location 5p12
miRNA miRNA information provided by mirtarbase database.
987
miRTarBase ID miRNA Experiments Reference
MIRT017138 hsa-miR-335-5p Microarray 18185580
MIRT021092 hsa-miR-186-5p Sequencing 20371350
MIRT026269 hsa-miR-192-5p Microarray 19074876
MIRT027892 hsa-miR-96-5p Sequencing 20371350
MIRT031085 hsa-miR-19b-3p Sequencing 20371350
Transcription factors Transcription factors information provided by TRRUST V2 database.
1
Transcription factor Regulation Reference
HDAC1 Unknown 12626711
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
25
GO ID Ontology Definition Evidence Reference
GO:0004421 Function Hydroxymethylglutaryl-CoA synthase activity IBA
GO:0004421 Function Hydroxymethylglutaryl-CoA synthase activity IDA 7913309
GO:0004421 Function Hydroxymethylglutaryl-CoA synthase activity IEA
GO:0004421 Function Hydroxymethylglutaryl-CoA synthase activity TAS 7913309
GO:0005515 Function Protein binding IPI 28514442, 33961781
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
142940 5007 ENSG00000112972
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q01581
Protein name Hydroxymethylglutaryl-CoA synthase, cytoplasmic (HMG-CoA synthase) (EC 2.3.3.10) (3-hydroxy-3-methylglutaryl coenzyme A synthase)
Protein function Catalyzes the condensation of acetyl-CoA with acetoacetyl-CoA to form HMG-CoA, which is converted by HMG-CoA reductase (HMGCR) into mevalonate, a precursor for cholesterol synthesis.
PDB 2P8U
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF01154 HMG_CoA_synt_N 13 186 Hydroxymethylglutaryl-coenzyme A synthase N terminal Domain
PF08540 HMG_CoA_synt_C 187 469 Hydroxymethylglutaryl-coenzyme A synthase C terminal Domain
Sequence
Sequence length 520
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Valine, leucine and isoleucine degradation
Butanoate metabolism
Terpenoid backbone biosynthesis
Metabolic pathways
PPAR signaling pathway
  Cholesterol biosynthesis
PPARA activates gene expression
Activation of gene expression by SREBF (SREBP)
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
3
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
CONGENITAL MYOPATHY 28 WITH RIGID SPINE Pathogenic rs2478251946, rs1754165557, rs2478294429, rs2478275416, rs1255293139 RCV006261705
RCV006261706
RCV006261707
RCV006261708
RCV006261709
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Rigid spine syndrome Pathogenic rs2478251946, rs1754165557, rs2478294429, rs1753848501, rs2478275416, rs769894152, rs1255293139 RCV003986057
RCV003986058
RCV003986059
RCV003986060
RCV003986061
RCV003986062
RCV003986063
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
ALZHEIMER DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References Evidence Score
Breast Neoplasms Associate 26353928, 32692762
★☆☆☆☆
Found in Text Mining only
Carcinogenesis Associate 36356901
★☆☆☆☆
Found in Text Mining only
Carcinoma Renal Cell Associate 33750388, 34513998
★☆☆☆☆
Found in Text Mining only
Carcinoma Squamous Cell Associate 36732018
★☆☆☆☆
Found in Text Mining only
Coronary Artery Disease Associate 26153245
★☆☆☆☆
Found in Text Mining only
Endometrial Neoplasms Associate 36835419
★☆☆☆☆
Found in Text Mining only
Hepatoblastoma Associate 30809316
★☆☆☆☆
Found in Text Mining only
Leukemia Myeloid Acute Associate 33601148
★☆☆☆☆
Found in Text Mining only
Lung Neoplasms Associate 36356901
★☆☆☆☆
Found in Text Mining only
Nasopharyngeal Carcinoma Associate 36702290
★☆☆☆☆
Found in Text Mining only