AutismKB 2.0

Annotation Details for HMGCS1


View Evidences View Variants View Annotations
Basic Information Top
Gene Symbol:HMGCS1 ( HMGCS,MGC90332 )
Gene Full Name: 3-hydroxy-3-methylglutaryl-CoA synthase 1 (soluble)
Band: 5p12
Quick LinksEntrez ID:3157; OMIM: 142940; Uniprot ID:HMCS1_HUMAN; ENSEMBL ID: ENSG00000112972; HGNC ID: 5007
Relate to Another Database: SFARIGene; denovo-db
Gene Ontology Top
GO ID Evidence Qualifier GO_term References
GO:0005737TAS-cytoplasm7913309
GO:0005829TAS-cytosol-
GO ID Evidence Qualifier GO_term References
GO:0004421TAS-hydroxymethylglutaryl-CoA synthase activity-
GO:0008144IEA-drug binding-
GO:0016853IEA-isomerase activity-
GO:0042803IEA-protein homodimerization activity-
GO:0043177IEA-organic acid binding-
GO ID Evidence Qualifier GO_term References
GO:0001889IEA-liver development-
GO:0006629NAS-lipid metabolic process7913309
GO:0006695TAS-cholesterol biosynthetic process-
GO:0007420IEA-brain development-
GO:0008299IEA-isoprenoid biosynthetic process-
GO:0008584IEA-male gonad development-
GO:0009645IEA-response to low light intensity stimulus-
GO:0014074IEA-response to purine-containing compound-
GO:0019216TAS-regulation of lipid metabolic process-
GO:0033197IEA-response to vitamin E-
GO:0042493IEA-response to drug-
GO:0045540TAS-regulation of cholesterol biosynthetic process-
GO:0046690IEA-response to tellurium ion-
GO:0055094IEA-response to lipoprotein particle-
GO:0071372IEA-cellular response to follicle-stimulating hormone stimulus-
GO:0071397IEA-cellular response to cholesterol-
Protein-Protein Interaction Top
AlzGene, PDGene and SZGene Top
Gene Symbol Poly Names Gene overview in AlzGene
HMGCS1rs1548097, rs6814 Gene overview in AlzGene
No data
No data
Animal Model Top
  • MGI ID: MGI:107592
  • Data Attributes: MGI curated and HomoloGene calculated
SELECT * FROM lijr_20110218_zfin_genotype_phenotype WHERE ZFIN_Gene_ID='ZDB-GENE-040426-1042'