ENSG00000112972


Homo sapiens

Features
Gene ID: ENSG00000112972
  
Biological name :HMGCS1
  
Synonyms : 3-hydroxy-3-methylglutaryl-CoA synthase 1 / HMGCS1 / Q01581
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 5
Strand: -1
Band: p12
Gene start: 43289395
Gene end: 43313512
  
Corresponding Affymetrix probe sets: 205822_s_at (Human Genome U133 Plus 2.0 Array)   221750_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000399402
Ensembl peptide - ENSP00000427339
Ensembl peptide - ENSP00000322706
NCBI entrez gene - 3157     See in Manteia.
OMIM - 142940
RefSeq - XM_017009412
RefSeq - NM_001098272
RefSeq - NM_001324219
RefSeq - NM_001324220
RefSeq - NM_001324222
RefSeq - NM_001324223
RefSeq - NM_001324224
RefSeq - NM_002130
RefSeq - XM_011514036
RefSeq Peptide - NP_001091742
RefSeq Peptide - NP_001311148
RefSeq Peptide - NP_001311149
RefSeq Peptide - NP_001311153
RefSeq Peptide - NP_001317592
RefSeq Peptide - NP_002121
RefSeq Peptide - NP_001311151
RefSeq Peptide - NP_001311152
swissprot - D6RIW1
swissprot - A0A024R059
swissprot - Q01581
Ensembl - ENSG00000112972
  
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 hmgcs1ENSDARG00000103025Danio rerio
 HMGCS1ENSGALG00000014862Gallus gallus
 Hmgcs1ENSMUSG00000093930Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
HMGCS2 / P54868 / 3-hydroxy-3-methylglutaryl-CoA synthase 2ENSG0000013424060


Protein motifs (from Interpro)
Interpro ID Name
 IPR000590  Hydroxymethylglutaryl-coenzyme A synthase, active site
 IPR010122  Hydroxymethylglutaryl-CoA synthase, eukaryotic
 IPR013528  Hydroxymethylglutaryl-coenzyme A synthase, N-terminal
 IPR013746  Hydroxymethylglutaryl-coenzyme A synthase C-terminal domain
 IPR016039  Thiolase-like


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0001889 liver development IEA
 biological_processGO:0006629 lipid metabolic process NAS
 biological_processGO:0006694 steroid biosynthetic process IEA
 biological_processGO:0006695 cholesterol biosynthetic process TAS
 biological_processGO:0007420 brain development IEA
 biological_processGO:0008152 metabolic process IEA
 biological_processGO:0008202 steroid metabolic process IEA
 biological_processGO:0008203 cholesterol metabolic process IEA
 biological_processGO:0008299 isoprenoid biosynthetic process IEA
 biological_processGO:0008584 male gonad development IEA
 biological_processGO:0009645 response to low light intensity stimulus IEA
 biological_processGO:0009725 response to hormone IEA
 biological_processGO:0010033 response to organic substance IEA
 biological_processGO:0014070 response to organic cyclic compound IEA
 biological_processGO:0014074 response to purine-containing compound IEA
 biological_processGO:0016126 sterol biosynthetic process IEA
 biological_processGO:0019216 regulation of lipid metabolic process TAS
 biological_processGO:0033197 response to vitamin E IEA
 biological_processGO:0034698 response to gonadotropin IEA
 biological_processGO:0042493 response to drug IEA
 biological_processGO:0045540 regulation of cholesterol biosynthetic process TAS
 biological_processGO:0046690 response to tellurium ion IEA
 biological_processGO:0070723 response to cholesterol IEA
 biological_processGO:0071372 cellular response to follicle-stimulating hormone stimulus IEA
 biological_processGO:0071397 cellular response to cholesterol IEA
 biological_processGO:0071404 cellular response to low-density lipoprotein particle stimulus IEA
 biological_processGO:0071407 cellular response to organic cyclic compound IEA
 cellular_componentGO:0005737 cytoplasm TAS
 cellular_componentGO:0005829 cytosol TAS
 molecular_functionGO:0003824 catalytic activity IEA
 molecular_functionGO:0004421 hydroxymethylglutaryl-CoA synthase activity IEA
 molecular_functionGO:0008144 drug binding IEA
 molecular_functionGO:0016740 transferase activity IEA
 molecular_functionGO:0016853 isomerase activity IEA
 molecular_functionGO:0042803 protein homodimerization activity IEA
 molecular_functionGO:0043177 organic acid binding IEA


Pathways (from Reactome)
Pathway description
Cholesterol biosynthesis
PPARA activates gene expression
Activation of gene expression by SREBF (SREBP)


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
No match
  


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

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