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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 61
  • 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) is a Protein Coding gene. Among its related pathways are Regulation of lipid metabolism by Peroxisome proliferator-activated receptor alpha (PPARalpha) and Metabolism. 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

Enhancers for HMGCS1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH05F043482 1.2 ENCODE 10.5 -171.5 -171496 5.6 HDGF PKNOX1 ARNT CREB3L1 ARID4B SIN3A FEZF1 DMAP1 ZNF2 YY1 ZNF131 EEF1A1P19 RPL29P12 ENSG00000248240 NNT CCL28 ENSG00000249492 PAIP1 LOC153684 FGF10-AS1
GH05F043389 1 ENCODE 11 -76.4 -76382 0.2 ARNT ARID4B ZNF2 YY1 ZNF143 DEK REST PPARG ZNF518A KAT8 HMGCS1 NNT-AS1 CCL28 ENSG00000188850
GH05F043281 0.7 ENCODE 11.6 +31.4 31412 1.1 PKNOX1 BACH1 FOSL1 ZNF316 GATA2 NFE2 FOS MAFK NR4A1 MAFG HMGCS1 NNT ENSG00000261604 LOC100419036
GH05F043396 0.7 ENCODE 10.9 -83.5 -83523 1.4 GTF2F1 ZNF687 SMAD5 BHLHE40 SIN3A BMI1 MNT RAD21 YY1 CHAMP1 TMEM267 ENSG00000249492 HMGCS1 CCL28 ENSG00000188850
GH05F043347 0.7 ENCODE 10.5 -34.9 -34899 2.0 SOX13 STAT1 FOXA3 NR2F1 CEBPB ZNF644 ZSCAN9 ZNF316 GATA4 IKZF1 HMGCS1 NNT ENSG00000188850 CCL28
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around HMGCS1 on UCSC Golden Path with GeneCards custom track

Promoters for HMGCS1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00001279247 1012 3801 HDGF PKNOX1 MLX ARNT CREB3L1 ZFP64 ARID4B SIN3A FEZF1 DMAP1

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

Selected DME Specific Peptides for HMGCS1 Gene

Q01581:
  • GKYTIGLG
  • APDVFAENMK
  • EHIPSPAKKVPR
  • QCYLSALD
  • VDGKLSIQCYL
  • VQKSLAR
  • LMQLFEESGNTD
  • LIGPNAP
  • GNARPTGG
  • ESSSWDGRYA
  • MQHAYDFYKPD
  • VKLEDTYFDR
  • TNACYGGTA
  • DKSKSVK
  • LFEGTWYLVRVDEKHRRTYARRP
  • WDGRYALVV
  • FPSQYVDQ

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)
  • Cloud-Clone Corp. Antibodies for 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:0003824 catalytic activity IEA --
GO:0004421 hydroxymethylglutaryl-CoA synthase activity IEA,TAS --
GO:0008144 drug binding IEA --
GO:0016740 transferase activity IEA --
GO:0016853 isomerase 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

  • Taconic Biosciences Mouse Models for HMGCS1

Inhibitory RNA Products

Clone Products

Flow Cytometry 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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for HMGCS1 gene
Compartment Confidence
cytosol 5
plasma membrane 3
nucleus 3
mitochondrion 2
extracellular 1
peroxisome 1
endoplasmic reticulum 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,TAS --
GO:0005829 cytosol TAS --
GO:0005886 plasma membrane IDA --
genes like me logo Genes that share ontologies with HMGCS1: view

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:0006629 lipid metabolic process NAS 7913309
GO:0006694 steroid biosynthetic process IEA --
GO:0006695 cholesterol biosynthetic process TAS --
GO:0007420 brain development 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

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

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Water Approved Pharma 0
(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

(2) 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
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:

Inhibitory RNA Products

Clone Products

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 from GTEx, Illumina, BioGPS, and SAGE 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, MaxQB, and MOPED for HMGCS1 Gene



Protein tissue co-expression partners for HMGCS1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of HMGCS1 Gene:

HMGCS1

SOURCE GeneReport for Unigene cluster for HMGCS1 Gene:

Hs.397729
genes like me logo Genes that share expression patterns with HMGCS1: view

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
chimpanzee
(Pan troglodytes)
Mammalia HMGCS1 34 35
  • 99.74 (n)
dog
(Canis familiaris)
Mammalia -- 35
  • 96 (a)
OneToMany
HMGCS1 34
  • 91.73 (n)
-- 35
  • 68 (a)
OneToMany
oppossum
(Monodelphis domestica)
Mammalia HMGCS1 35
  • 93 (a)
OneToOne
cow
(Bos Taurus)
Mammalia HMGCS1 34 35
  • 91.79 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia HMGCS1 35
  • 90 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Hmgcs1 34
  • 89.62 (n)
mouse
(Mus musculus)
Mammalia Hmgcs1 34 16 35
  • 89.29 (n)
chicken
(Gallus gallus)
Aves HMGCS1 34 35
  • 79.04 (n)
lizard
(Anolis carolinensis)
Reptilia HMGCS1 35
  • 82 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia hmgcs1 34
  • 74.44 (n)
Str.15315 34
African clawed frog
(Xenopus laevis)
Amphibia hmgcs1-prov 34
zebrafish
(Danio rerio)
Actinopterygii hmgcs1 34 35
  • 72.33 (n)
zgc56481 34
fruit fly
(Drosophila melanogaster)
Insecta Hmgs 36 34 35
  • 59.12 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP005847 34
  • 55.63 (n)
worm
(Caenorhabditis elegans)
Secernentea hmgs-1 35
  • 42 (a)
OneToMany
F25B4.6 36
  • 41 (a)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0D10505g 34
  • 57.63 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes ERG13 34 35 37
  • 56.09 (n)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_ADL356C 34
  • 54.32 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons MVA1 34
  • 55.41 (n)
rice
(Oryza sativa)
Liliopsida Os03g0118800 34
  • 57.37 (n)
barley
(Hordeum vulgare)
Liliopsida Hv.4542 34
bread mold
(Neurospora crassa)
Ascomycetes NCU03922 34
  • 54.46 (n)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes hcs1 34
  • 54.35 (n)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.9481 35
  • 54 (a)
OneToMany
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.13852 34
Species where no ortholog for HMGCS1 was found in the sources mined by GeneCards:
  • 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
rs10039048 -- 43,313,076(+) TAGAA(C/T)ACCTA intron-variant, utr-variant-5-prime
rs10069507 -- 43,301,699(+) TGGAT(A/G)AGTTA intron-variant
rs10473306 -- 43,287,335(+) TCATT(C/G)TGCAA downstream-variant-500B
rs1050325 -- 43,290,378(-) TGTGC(C/T)CCTGA utr-variant-3-prime
rs1050336 -- 43,289,717(-) TGTCT(A/G)ATATT utr-variant-3-prime

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

Variant ID Type Subtype PubMed ID
nsv508352 CNV deletion 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

SNPedia medical, phenotypic, and genealogical associations of SNPs for
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. 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 22 64
  2. 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 46 64
  3. Multiple genetic variants along candidate pathways influence plasma high-density lipoprotein cholesterol concentrations. (PMID: 18660489) Lu Y. … Boer J.M. (J. Lipid Res. 2008) 3 46 64
  4. 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 22 64
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4 64

Products for HMGCS1 Gene

Sources for HMGCS1 Gene

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