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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 58
  • 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 Terpenoid backbone biosynthesis 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.

Additional gene information for HMGCS1 Gene

No data available for Entrez Gene Summary , CIViC 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
GH05H043482 1.1 ENCODE 10.6 -171.5 -171496 5 HDGF PKNOX1 ARNT ARID4B SIN3A FEZF1 DMAP1 ZNF2 YY1 ZNF766 ZNF131 TMEM267 EEF1A1P19 C5orf34 NNT RPL29P12 CCL28 ENSG00000249492 HMGCS1 ENSG00000248240
GH05H043389 1 ENCODE 11 -76.4 -76382 0 FOXA2 ARNT ARID4B ZNF2 YY1 ZNF143 ATF7 DEK ZC3H11A REST HMGCS1 NNT-AS1 CCL28 ENSG00000188850
GH05H043396 1 ENCODE dbSUPER 10.9 -83.5 -83523 1 RB1 TAF1 SIN3A BMI1 EBF1 RAD21 CHAMP1 YY1 E2F1 POLR2A TMEM267 ENSG00000249492 HMGCS1 CCL28 ENSG00000188850
GH05H043281 0.7 ENCODE 11.6 +31.4 31412 1 PKNOX1 JUN BACH1 BATF FOSL1 ZNF316 GATA2 FOS NFE2 MAFK HMGCS1 NNT ENSG00000261604 LOC100419036
GH05H043232 0.6 ENCODE 10.8 +81.3 81279 0 CTCF FOXA2 PKNOX1 ATF3 HNF4A REST RAD21 YY1 HMGCS1 NIM1K GC05P043232 ENSG00000249888
- 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
ENSR00000180193 512 2001 HDGF PKNOX1 ARNT ZFP64 ARID4B SIN3A DMAP1 ZNF2 ZBTB7B YY1

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 isoforms=273, posLast=291291, posLast=317317, posLast=321321, isoforms=330, posLast=368368, posLast=400400, posLast=409409, and posLast=428428
  • Modification sites at PhosphoSitePlus

Antibody Products

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

Domains & Families for HMGCS1 Gene

Gene Families for HMGCS1 Gene

IUPHAR :
Human Protein Atlas (HPA):
  • Enzymes
  • Plasma proteins
  • Predicted intracellular proteins

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

Phenotypes From GWAS Catalog 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 TAS,IEA --
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

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for HMGCS1
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (3)
  • Nucleus (3)
  • Plasma membrane (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for HMGCS1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm TAS 7913309
GO:0005829 cytosol TAS --
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
(7R,12R,13R)-13-formyl-12,14-dihydroxy-3,5,7-trimethyltetradeca-2,4-dienoic 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:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for HMGCS1
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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 CGAP 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

Evidence on tissue expression from TISSUES for HMGCS1 Gene

  • Liver(4.8)
  • Nervous system(4.8)
  • Lung(4.4)
  • Adrenal gland(4.3)
  • Heart(2.1)
  • Stomach(2)
genes like me logo Genes that share expression patterns with HMGCS1: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer 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 33 34
  • 99.74 (n)
dog
(Canis familiaris)
Mammalia -- 34
  • 96 (a)
OneToMany
HMGCS1 33
  • 91.73 (n)
-- 34
  • 68 (a)
OneToMany
oppossum
(Monodelphis domestica)
Mammalia HMGCS1 34
  • 93 (a)
OneToOne
cow
(Bos Taurus)
Mammalia HMGCS1 33 34
  • 91.79 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia HMGCS1 34
  • 90 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Hmgcs1 33
  • 89.62 (n)
mouse
(Mus musculus)
Mammalia Hmgcs1 33 16 34
  • 89.29 (n)
chicken
(Gallus gallus)
Aves HMGCS1 33 34
  • 79.04 (n)
lizard
(Anolis carolinensis)
Reptilia HMGCS1 34
  • 82 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia hmgcs1 33
  • 74.44 (n)
Str.15315 33
African clawed frog
(Xenopus laevis)
Amphibia hmgcs1-prov 33
zebrafish
(Danio rerio)
Actinopterygii hmgcs1 33 34
  • 72.33 (n)
zgc56481 33
fruit fly
(Drosophila melanogaster)
Insecta Hmgs 35 33 34
  • 59.12 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP005847 33
  • 55.63 (n)
worm
(Caenorhabditis elegans)
Secernentea hmgs-1 34
  • 42 (a)
OneToMany
F25B4.6 35
  • 41 (a)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0D10505g 33
  • 57.63 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes ERG13 33 34 36
  • 56.09 (n)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_ADL356C 33
  • 54.32 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons MVA1 33
  • 55.41 (n)
rice
(Oryza sativa)
Liliopsida Os03g0118800 33
  • 57.37 (n)
barley
(Hordeum vulgare)
Liliopsida Hv.4542 33
bread mold
(Neurospora crassa)
Ascomycetes NCU03922 33
  • 54.46 (n)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes hcs1 33
  • 54.35 (n)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.9481 34
  • 54 (a)
OneToMany
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.13852 33
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
rs1000301603 -- 43,287,805(+) ACAGC(G/T)AGAAT utr-variant-3-prime
rs1000586255 -- 43,303,138(+) TTCTT(C/T)AGATA intron-variant
rs1000606372 -- 43,290,639(+) ACCAC(A/G)TTTTA utr-variant-3-prime
rs1000729894 -- 43,306,155(+) GACAA(A/G)AGAAA intron-variant
rs1000771758 -- 43,310,513(+) AAGGG(C/T)ACTCA intron-variant

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 WW (Journal of molecular biology 2010) 3 22 60
  2. Polymorphisms in the estrogen receptor 1 and vitamin C and matrix metalloproteinase gene families are associated with susceptibility to lymphoma. (PMID: 18636124) Skibola CF … Smith MT (PloS one 2008) 3 45 60
  3. Multiple genetic variants along candidate pathways influence plasma high-density lipoprotein cholesterol concentrations. (PMID: 18660489) Lu Y … Boer JM (Journal of lipid research 2008) 3 45 60
  4. Transcriptional regulation of HMG-CoA synthase and HMG-CoA reductase genes by human ACBP. (PMID: 19088433) Vock C … Nitz I (Cellular physiology and biochemistry : international journal of experimental cellular physiology, biochemistry, and pharmacology 2008) 3 22 60
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 60

Products for HMGCS1 Gene

Sources for HMGCS1 Gene

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