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Aliases for HMGCS1 Gene

Aliases for HMGCS1 Gene

  • 3-Hydroxy-3-Methylglutaryl-CoA Synthase 1 (Soluble) 2 3
  • 3-Hydroxy-3-Methylglutaryl-Coenzyme A Synthase 1 (Soluble) 2 3
  • 3-Hydroxy-3-Methylglutaryl Coenzyme A (HMG-CoA) Synthase 2 3
  • EC 2.3.3.10 4 63
  • HMGCS 3 4
  • Hydroxymethylglutaryl-CoA Synthase, Cytoplasmic 3
  • 3-Hydroxy-3-Methylglutaryl Coenzyme A Synthase 4
  • HMG-CoA Synthase 4

External Ids for HMGCS1 Gene

Previous HGNC Symbols for HMGCS1 Gene

  • HMGCS

Previous GeneCards Identifiers for HMGCS1 Gene

  • GC05M043596
  • GC05M044466
  • GC05M043289
  • GC05M043336

Summaries for HMGCS1 Gene

GeneCards Summary for HMGCS1 Gene

HMGCS1 (3-Hydroxy-3-Methylglutaryl-CoA Synthase 1 (Soluble)) is a Protein Coding gene. Among its related pathways are Endochondral Ossification and Regulation of Cholesterol Biosynthesis by SREBP (SREBF). GO annotations related to this gene include protein homodimerization activity and isomerase activity. An important paralog of this gene is HMGCS2.

UniProtKB/Swiss-Prot for HMGCS1 Gene

  • This enzyme condenses acetyl-CoA with acetoacetyl-CoA to form HMG-CoA, which is the substrate for HMG-CoA reductase

No data available for Entrez Gene Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for HMGCS1 Gene

Genomics for HMGCS1 Gene

Regulatory Elements for HMGCS1 Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for HMGCS1 Gene

Start:
43,287,470 bp from pter
End:
43,313,512 bp from pter
Size:
26,043 bases
Orientation:
Minus strand

Genomic View for HMGCS1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for HMGCS1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for HMGCS1 Gene

Proteins for HMGCS1 Gene

  • Protein details for HMGCS1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q01581-HMCS1_HUMAN
    Recommended name:
    Hydroxymethylglutaryl-CoA synthase, cytoplasmic
    Protein Accession:
    Q01581
    Secondary Accessions:
    • B2RDL8

    Protein attributes for HMGCS1 Gene

    Size:
    520 amino acids
    Molecular mass:
    57294 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=AAH00297.2; Type=Erroneous initiation; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for HMGCS1 Gene

neXtProt entry for HMGCS1 Gene

Proteomics data for HMGCS1 Gene at MOPED

Post-translational modifications for HMGCS1 Gene

  • Ubiquitination at Lys46, Lys100, Lys206, Lys273, Lys291, Lys317, Lys321, Lys330, Lys368, Lys400, Lys409, and Lys428
  • Modification sites at PhosphoSitePlus

Other Protein References for HMGCS1 Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

Antibody Products

Domains for HMGCS1 Gene

Graphical View of Domain Structure for InterPro Entry

Q01581

UniProtKB/Swiss-Prot:

HMCS1_HUMAN :
  • Q01581
Family:
  • Belongs to the HMG-CoA synthase family.
genes like me logo Genes that share domains with HMGCS1: view

Function for HMGCS1 Gene

Molecular function for HMGCS1 Gene

GENATLAS Biochemistry: 3-hydroxy-3-methylglutaryl-CoA synthase 1,cytoplasmic
UniProtKB/Swiss-Prot CatalyticActivity: Acetyl-CoA + H(2)O + acetoacetyl-CoA = (S)-3-hydroxy-3-methylglutaryl-CoA + CoA.
UniProtKB/Swiss-Prot Function: This enzyme condenses acetyl-CoA with acetoacetyl-CoA to form HMG-CoA, which is the substrate for HMG-CoA reductase

Enzyme Numbers (IUBMB) for HMGCS1 Gene

Gene Ontology (GO) - Molecular Function for HMGCS1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003824 catalytic activity --
GO:0004421 hydroxymethylglutaryl-CoA synthase activity IEA --
GO:0008144 drug binding IEA --
GO:0016853 isomerase activity IEA --
GO:0042803 protein homodimerization activity IEA --
genes like me logo Genes that share ontologies with HMGCS1: view

Animal Model Products

CRISPR Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for HMGCS1

In Situ Assay Products

Flow Cytometry Products

No data available for Phenotypes , Animal Models , Transcription Factor Targeting and HOMER Transcription for HMGCS1 Gene

Localization for HMGCS1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for HMGCS1 Gene

Cytoplasm.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for HMGCS1 Gene COMPARTMENTS Subcellular localization image for HMGCS1 gene
Compartment Confidence
cytosol 4
nucleus 4
plasma membrane 4
endoplasmic reticulum 1
extracellular 1
mitochondrion 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for HMGCS1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA --
GO:0005654 nucleoplasm IDA --
GO:0005737 cytoplasm IDA --
GO:0005829 cytosol TAS --
GO:0005886 plasma membrane IDA --
genes like me logo Genes that share ontologies with HMGCS1: view

Pathways for HMGCS1 Gene

genes like me logo Genes that share pathways with HMGCS1: view

PCR Array Products

  • Pathway & Disease-focused RT² Profiler PCR Arrays

UniProtKB/Swiss-Prot Q01581-HMCS1_HUMAN

  • Pathway: Metabolic intermediate biosynthesis; (R)-mevalonate biosynthesis; (R)-mevalonate from acetyl-CoA: step 2/3

Gene Ontology (GO) - Biological Process for HMGCS1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001889 liver development IEA --
GO:0006629 lipid metabolic process NAS 7913309
GO:0006695 cholesterol biosynthetic process TAS --
GO:0007420 brain development IEA --
GO:0008152 metabolic process --
genes like me logo Genes that share ontologies with HMGCS1: view

Compounds for HMGCS1 Gene

(5) HMDB Compounds for HMGCS1 Gene

Compound Synonyms Cas Number PubMed IDs
3-Hydroxy-3-methylglutaryl-CoA
  • (S)-3-hydroxy-3-methylglutaryl-CoA
1553-55-5
Acetoacetyl-CoA
  • 3-acetoacetyl-CoA
1420-36-6
Acetyl-CoA
  • S-Acetyl coenzyme A
72-89-9
Coenzyme A
  • Acetoacetyl coenzyme A sodium salt
85-61-0
Water
  • Dihydrogen oxide
7732-18-5

(1) Drugbank Compounds for HMGCS1 Gene

Compound Synonyms Cas Number Type Actions PubMed IDs
(3R,5S,7R,12S,13R)-13-FORMYL-12,14-DIHYDROXY-3,5,7-TRIMETHYLTETRADECANOIC ACID
target

(1) IUPHAR Ligand for HMGCS1 Gene

Ligand Type Action Affinity Pubmed IDs
(S)-3-hydroxy-3-methylglutaryl-CoA Inhibitor Feedback inhibition 5.9
genes like me logo Genes that share compounds with HMGCS1: view

Transcripts for HMGCS1 Gene

Unigene Clusters for HMGCS1 Gene

3-hydroxy-3-methylglutaryl-CoA synthase 1 (soluble):
Representative Sequences:

CRISPR Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for HMGCS1

Primer Products

  • QuantiTect SYBR Green Assays in human,mouse,rat
  • Pre-validated RT² qPCR Primer Assay in human,mouse,rat
  • QuantiFast Probe-based Assays in human,mouse,rat

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for HMGCS1 Gene

ExUns: 1a · 1b ^ 2 ^ 3a · 3b ^ 4 ^ 5a · 5b ^ 6a · 6b · 6c ^ 7a · 7b ^ 8a · 8b · 8c ^ 9 ^ 10a · 10b ^ 11a · 11b ^ 12 ^ 13 ^ 14
SP1:
SP2: - - - -
SP3: -
SP4: -
SP5:
SP6: - -
SP7: -
SP8: - - -
SP9: - -

Relevant External Links for HMGCS1 Gene

GeneLoc Exon Structure for
HMGCS1
ECgene alternative splicing isoforms for
HMGCS1

Expression for HMGCS1 Gene

mRNA expression in normal human tissues for HMGCS1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for HMGCS1 Gene

SOURCE GeneReport for Unigene cluster for HMGCS1 Gene Hs.397729

genes like me logo Genes that share expressions with HMGCS1: view

In Situ Assay Products

No data available for mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for HMGCS1 Gene

Orthologs for HMGCS1 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for HMGCS1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia HMGCS1 35
  • 99.74 (n)
  • 99.81 (a)
HMGCS1 36
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia HMGCS1 35
  • 91.79 (n)
  • 95.96 (a)
HMGCS1 36
  • 88 (a)
OneToOne
dog
(Canis familiaris)
Mammalia -- 36
  • 68 (a)
OneToMany
-- 36
  • 96 (a)
OneToMany
HMGCS1 35
  • 91.73 (n)
  • 96.35 (a)
mouse
(Mus musculus)
Mammalia Hmgcs1 35
  • 89.29 (n)
  • 94.62 (a)
Hmgcs1 16
Hmgcs1 36
  • 95 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia HMGCS1 36
  • 93 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia HMGCS1 36
  • 90 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Hmgcs1 35
  • 89.62 (n)
  • 94.81 (a)
chicken
(Gallus gallus)
Aves HMGCS1 35
  • 79.04 (n)
  • 84.23 (a)
HMGCS1 36
  • 84 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia HMGCS1 36
  • 82 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia hmgcs1-prov 35
tropical clawed frog
(Silurana tropicalis)
Amphibia hmgcs1 35
  • 74.44 (n)
  • 79.96 (a)
Str.15315 35
zebrafish
(Danio rerio)
Actinopterygii hmgcs1 35
  • 72.33 (n)
  • 79.45 (a)
hmgcs1 36
  • 78 (a)
OneToOne
zgc56481 35
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP005847 35
  • 55.63 (n)
  • 64.24 (a)
fruit fly
(Drosophila melanogaster)
Insecta Hmgs 35
  • 59.12 (n)
  • 64.62 (a)
Hmgs 36
  • 64 (a)
OneToMany
Hmgs 37
  • 64 (a)
worm
(Caenorhabditis elegans)
Secernentea hmgs-1 36
  • 42 (a)
OneToMany
F25B4.6 37
  • 41 (a)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_ADL356C 35
  • 54.32 (n)
  • 51.79 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes ERG13 35
  • 56.09 (n)
  • 50.91 (a)
ERG13 36
  • 45 (a)
OneToMany
ERG13 38
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0D10505g 35
  • 57.63 (n)
  • 52.16 (a)
thale cress
(Arabidopsis thaliana)
eudicotyledons MVA1 35
  • 55.41 (n)
  • 50.11 (a)
barley
(Hordeum vulgare)
Liliopsida Hv.4542 35
rice
(Oryza sativa)
Liliopsida Os03g0118800 35
  • 57.37 (n)
  • 55.33 (a)
bread mold
(Neurospora crassa)
Ascomycetes NCU03922 35
  • 54.46 (n)
  • 53.03 (a)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes hcs1 35
  • 54.35 (n)
  • 50.11 (a)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.13852 35
sea squirt
(Ciona savignyi)
Ascidiacea CSA.9481 36
  • 54 (a)
OneToMany
Species with no ortholog for HMGCS1:
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for HMGCS1 Gene

ENSEMBL:
Gene Tree for HMGCS1 (if available)
TreeFam:
Gene Tree for HMGCS1 (if available)

Paralogs for HMGCS1 Gene

Paralogs for HMGCS1 Gene

Selected SIMAP similar genes for HMGCS1 Gene using alignment to 3 proteins:

Pseudogenes.org Pseudogenes for HMGCS1 Gene

genes like me logo Genes that share paralogs with HMGCS1: view

Variants for HMGCS1 Gene

Sequence variations from dbSNP and Humsavar for HMGCS1 Gene

SNP ID Clin Chr 05 pos Sequence Context AA Info Type MAF
rs6814 -- 43,289,606(-) GGTGG(C/G)AAAAT utr-variant-3-prime
rs13659 -- 43,290,598(-) TAGCA(A/T)AACAA utr-variant-3-prime
rs1050325 -- 43,290,378(-) TGTGC(C/T)CCTGA utr-variant-3-prime
rs1050336 -- 43,289,717(-) TGTCT(A/G)ATATT utr-variant-3-prime
rs1478436 -- 43,288,153(-) AAAAA(G/T)AATGT utr-variant-3-prime

Structural Variations from Database of Genomic Variants (DGV) for HMGCS1 Gene

Variant ID Type Subtype PubMed ID
nsv508352 CNV Loss 20534489

Relevant External Links for HMGCS1 Gene

HapMap Linkage Disequilibrium report
HMGCS1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for HMGCS1 Gene

Disorders for HMGCS1 Gene

Relevant External Links for HMGCS1

Genetic Association Database (GAD)
HMGCS1
Human Genome Epidemiology (HuGE) Navigator
HMGCS1
genes like me logo Genes that share disorders with HMGCS1: view

No data available for UniProtKB/Swiss-Prot for HMGCS1 Gene

Publications for HMGCS1 Gene

  1. Crystal structures of human HMG-CoA synthase isoforms provide insights into inherited ketogenesis disorders and inhibitor design. (PMID: 20346956) Shafqat N. … Yue W.W. (J. Mol. Biol. 2010) 3 23
  2. Amplification and direct sequencing of a cDNA encoding human cytosolic 3-hydroxy-3-methylglutaryl-coenzyme A synthase. (PMID: 1358203) Russ A.P. … Gross W. (Biochim. Biophys. Acta 1992) 3 4
  3. Transcriptional regulation of HMG-CoA synthase and HMG-CoA reductase genes by human ACBP. (PMID: 19088433) Vock C. … Nitz I. (Cell. Physiol. Biochem. 2008) 3 23
  4. Human cytoplasmic 3-hydroxy-3-methylglutaryl coenzyme A synthase: expression, purification, and characterization of recombinant wild- type and Cys129 mutant enzymes. (PMID: 7913309) Rokosz L.L. … Hermes J.D. (Arch. Biochem. Biophys. 1994) 3 4
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4

Products for HMGCS1 Gene

Sources for HMGCS1 Gene

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