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Aliases for HMGCS1 Gene

Aliases for HMGCS1 Gene

  • 3-Hydroxy-3-Methylglutaryl-CoA Synthase 1 2 3 5
  • 3-Hydroxy-3-Methylglutaryl-Coenzyme A Synthase 1 (Soluble) 2 3
  • 3-Hydroxy-3-Methylglutaryl Coenzyme A (HMG-CoA) Synthase 2 3
  • 3-Hydroxy-3-Methylglutaryl-CoA Synthase 1 (Soluble) 2 3
  • EC 2.3.3.10 4 63
  • HMGCS 3 4
  • 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) is a Protein Coding gene. Among its related pathways are Metabolism and Valine, leucine and isoleucine degradation. 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

Promoters for HMGCS1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around HMGCS1 on UCSC Golden Path with GeneCards custom track

Genomic Location for HMGCS1 Gene

Chromosome:
5
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

Genes around HMGCS1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
HMGCS1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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 Lys 273, Lys 291, Lys 317, Lys 321, Lys 330, Lys 368, Lys 400, Lys 409, and Lys 428
  • Modification sites at PhosphoSitePlus

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for HMGCS1 (HMGCS1)

Domains & Families for HMGCS1 Gene

Gene Families for HMGCS1 Gene

Graphical View of Domain Structure for InterPro Entry

Q01581

UniProtKB/Swiss-Prot:

HMCS1_HUMAN :
  • Belongs to the HMG-CoA synthase family.
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:0016853 isomerase activity IEA --
GO:0042803 protein homodimerization activity IEA --
genes like me logo Genes that share ontologies with HMGCS1: view
genes like me logo Genes that share phenotypes with HMGCS1: view

Animal Model Products

No data available for Human Phenotype Ontology , Animal Models , Transcription Factor Targets 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 5
nucleus 5
plasma membrane 5
mitochondrion 2
endoplasmic reticulum 1
extracellular 1
peroxisome 1

No data available for Gene Ontology (GO) - Cellular Components for HMGCS1 Gene

Pathways & Interactions for HMGCS1 Gene

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

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:0006695 cholesterol biosynthetic process TAS --
GO:0008299 isoprenoid biosynthetic process IEA --
GO:0008584 male gonad development IEA --
GO:0009645 response to low light intensity stimulus IEA --
genes like me logo Genes that share ontologies with HMGCS1: view

No data available for SIGNOR curated interactions for HMGCS1 Gene

Drugs & Compounds for HMGCS1 Gene

(4) Drugs for HMGCS1 Gene - From: HMDB, IUPHAR, DGIdb, and DrugBank

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
(3R,5S,7R,12S,13R)-13-FORMYL-12,14-DIHYDROXY-3,5,7-TRIMETHYLTETRADECANOIC ACID Experimental Pharma Target 0
Acetoacetyl-CoA Experimental Pharma 0
(S)-3-hydroxy-3-methylglutaryl-CoA Pharma Feedback inhibition, Inhibitor 0
Coenzyme A Nutra 0

(3) Additional Compounds for HMGCS1 Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
3-hydroxy-3-methylglutaryl-coa
  • (S)-3-hydroxy-3-methylglutaryl-CoA
  • (S)-3-hydroxy-3-methylglutaryl-Coenzyme A
  • 3-Hydroxy-3-methyl-Glutaryl-CoA
  • 3-Hydroxy-3-methyl-Glutaryl-Coenzyme A
  • 3-Hydroxy-3-methylglutaryl-CoA
1553-55-5
acetyl-coa
  • Ac-CoA
  • Ac-Coenzyme A
  • Ac-S-CoA
  • Ac-S-Coenzyme A
  • Acetyl coenzyme-A
72-89-9
Water
  • Dihydrogen oxide
  • Steam
7732-18-5
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:

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

Protein differential expression in normal tissues from HIPED for HMGCS1 Gene

This gene is overexpressed in Fetal Liver (13.2), Cervix (9.7), Fetal testis (7.6), and Fetal Brain (7.4).

Integrated Proteomics: protein expression in normal tissues and cell lines 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 expression patterns with HMGCS1: view

Protein tissue co-expression partners for HMGCS1 Gene

- Elite partner

Primer Products

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , 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
cow
(Bos Taurus)
Mammalia HMGCS1 35
  • 91.79 (n)
  • 95.96 (a)
HMGCS1 36
  • 88 (a)
OneToOne
dog
(Canis familiaris)
Mammalia HMGCS1 35
  • 91.73 (n)
  • 96.35 (a)
-- 36
  • 68 (a)
OneToMany
-- 36
  • 96 (a)
OneToMany
mouse
(Mus musculus)
Mammalia Hmgcs1 35
  • 89.29 (n)
  • 94.62 (a)
Hmgcs1 16
Hmgcs1 36
  • 95 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia HMGCS1 35
  • 99.74 (n)
  • 99.81 (a)
HMGCS1 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Hmgcs1 35
  • 89.62 (n)
  • 94.81 (a)
oppossum
(Monodelphis domestica)
Mammalia HMGCS1 36
  • 93 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia HMGCS1 36
  • 90 (a)
OneToOne
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
tropical clawed frog
(Silurana tropicalis)
Amphibia hmgcs1 35
  • 74.44 (n)
  • 79.96 (a)
Str.15315 35
African clawed frog
(Xenopus laevis)
Amphibia hmgcs1-prov 35
zebrafish
(Danio rerio)
Actinopterygii hmgcs1 35
  • 72.33 (n)
  • 79.45 (a)
zgc56481 35
hmgcs1 36
  • 78 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta Hmgs 37
  • 64 (a)
Hmgs 35
  • 59.12 (n)
  • 64.62 (a)
Hmgs 36
  • 64 (a)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP005847 35
  • 55.63 (n)
  • 64.24 (a)
worm
(Caenorhabditis elegans)
Secernentea F25B4.6 37
  • 41 (a)
hmgs-1 36
  • 42 (a)
OneToMany
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_ADL356C 35
  • 54.32 (n)
  • 51.79 (a)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0D10505g 35
  • 57.63 (n)
  • 52.16 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes ERG13 35
  • 56.09 (n)
  • 50.91 (a)
ERG13 36
  • 45 (a)
OneToMany
ERG13 38
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)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.13852 35
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 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

(1) 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
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

Variation tolerance for HMGCS1 Gene

Residual Variation Intolerance Score: 30.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.14; 23.14% of all genes are more intolerant (likely to be disease-causing)

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
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
HMGCS1

No disorders were found for HMGCS1 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for HMGCS1 Gene

Publications for HMGCS1 Gene

  1. Polymorphisms in the estrogen receptor 1 and vitamin C and matrix metalloproteinase gene families are associated with susceptibility to lymphoma. (PMID: 18636124) Skibola C.F. … Smith M.T. (PLoS ONE 2008) 3 48 67
  2. 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
  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. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3
  5. Panorama of ancient metazoan macromolecular complexes. (PMID: 26344197) Wan C. … Emili A. (Nature 2015) 3

Products for HMGCS1 Gene

Sources for HMGCS1 Gene

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