U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Links from GEO Profiles

    • Showing Current items.

    Hmgcs1 3-hydroxy-3-methylglutaryl-Coenzyme A synthase 1 [ Mus musculus (house mouse) ]

    Gene ID: 208715, updated on 11-Apr-2024

    Summary

    Go to the top of the page Help
    Official Symbol
    Hmgcs1provided by MGI
    Official Full Name
    3-hydroxy-3-methylglutaryl-Coenzyme A synthase 1provided by MGI
    Primary source
    MGI:MGI:107592
    See related
    Ensembl:ENSMUSG00000093930 AllianceGenome:MGI:107592
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    B130032C06Rik
    Summary
    Predicted to enable several functions, including hydroxymethylglutaryl-CoA synthase activity; organic acid binding activity; and protein homodimerization activity. Predicted to be involved in several processes, including acetyl-CoA metabolic process; cellular response to low-density lipoprotein particle stimulus; and farnesyl diphosphate biosynthetic process, mevalonate pathway. Predicted to act upstream of or within cholesterol biosynthetic process. Predicted to be located in cytoplasm. Predicted to be active in cytosol. Is expressed in several structures, including alimentary system; central nervous system; genitourinary system; integumental system; and sensory organ. Orthologous to human HMGCS1 (3-hydroxy-3-methylglutaryl-CoA synthase 1). [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Broad expression in CNS E18 (RPKM 127.4), CNS E14 (RPKM 70.2) and 22 other tissues See more
    Orthologs
    human all
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    Go to the top of the page Help
    See Hmgcs1 in Genome Data Viewer
    Location:
    13 D2.3; 13
    Exon count:
    12
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 13 NC_000079.7 (120151887..120169796)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 13 NC_000079.6 (119690351..119708260)

    Chromosome 13 - NC_000079.7Genomic Context describing neighboring genes Neighboring gene predicted gene, 53794 Neighboring gene RIKEN cDNA 1700074H08 gene Neighboring gene NIM1 serine/threonine protein kinase Neighboring gene predicted gene, 52026 Neighboring gene predicted gene, 41077 Neighboring gene zinc finger protein 131

    Genomic regions, transcripts, and products

    Go to the top of the page Help

    Go to nucleotide: Graphics FASTA GenBank

    Expression

    Go to the top of the page Help
    • Project title: Mouse ENCODE transcriptome data
    • Description: RNA profiling data sets generated by the Mouse ENCODE project.
    • BioProject: PRJNA66167
    • Publication: PMID 25409824
    • Analysis date: n/a

    Bibliography

    Go to the top of the pageHelp

    Related articles in PubMed

    1. Overexpression of mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase in transgenic mice causes hepatic hyperketogenesis. Valera A, et al. J Biol Chem, 1994 Mar 4. PMID 7907092
    2. Novel QTLs for HDL levels identified in mice by controlling for Apoa2 allelic effects: confirmation of a chromosome 6 locus in a congenic strain. Welch CL, et al. Physiol Genomics, 2004 Mar 12. PMID 14722362
    3. Nucleotide sequence of mouse spermidine synthase cDNA. Myöhänen S, et al. DNA Seq, 1994. PMID 7803821
    4. Normalization of Hepatic Homeostasis in the Npc1(nmf164) Mouse Model of Niemann-Pick Type C Disease Treated with the Histone Deacetylase Inhibitor Vorinostat. Munkacsi AB, et al. J Biol Chem, 2017 Mar 17. PMID 28031458, Free PMC Article
    5. In vivo evidence for the crucial role of SF1 in steroid-producing cells of the testis, ovary and adrenal gland. Buaas FW, et al. Development, 2012 Dec. PMID 23136395, Free PMC Article

    See all (47) citations in PubMed

    GeneRIFs: Gene References Into Functions

    Variation

    Go to the top of the page Help

    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Gene trapped (1) 
    • Endonuclease-mediated (3) 

    Pathways from PubChem

    Go to the top of the page

    Interactions

    Go to the top of the page Help
    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Go to the top of the page Help

    Markers

    Homology

    Clone Names

    • MGC36662, MGC98430

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables acyltransferase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables hydroxymethylglutaryl-CoA synthase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables hydroxymethylglutaryl-CoA synthase activity ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables isomerase activity ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables organic acid binding ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables protein homodimerization activity ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables small molecule binding ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables transferase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    involved_in acetyl-CoA metabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in cellular response to low-density lipoprotein particle stimulus ISO
    Inferred from Sequence Orthology
    more info
    		  
    acts_upstream_of_or_within cholesterol biosynthetic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    acts_upstream_of_or_within cholesterol metabolic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in farnesyl diphosphate biosynthetic process, mevalonate pathway IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in isoprenoid biosynthetic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    acts_upstream_of_or_within lipid metabolic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in response to purine-containing compound ISO
    Inferred from Sequence Orthology
    more info
    		  
    acts_upstream_of_or_within steroid biosynthetic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    acts_upstream_of_or_within steroid metabolic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    acts_upstream_of_or_within sterol biosynthetic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in cytoplasm IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

    Go to the top of the page Help
    Preferred Names
    hydroxymethylglutaryl-CoA synthase, cytoplasmic
    Names
    3-hydroxy-3-methylglutaryl coenzyme A synthase
    HMG-CoA synthase
    NP_001278368.1
    NP_666054.2
    XP_006517641.1
    XP_036013850.1

    NCBI Reference Sequences (RefSeq)

    Go to the top of the page Help

    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001291439.1 → NP_001278368.1  hydroxymethylglutaryl-CoA synthase, cytoplasmic

      See identical proteins and their annotated locations for NP_001278368.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1 and 2 both encode the same protein.
      Source sequence(s)
      AK031297, AK044835, CJ071929
      Consensus CDS
      CCDS56901.1
      UniProtKB/Swiss-Prot
      Q3UXI4, Q8JZK9
      UniProtKB/TrEMBL
      Q3UJ70, Q3UWQ9, Q8K0I5
      Related
      ENSMUSP00000136944.2, ENSMUST00000179869.3
      Conserved Domains (1) summary
      TIGR01833
      Location:13 → 469
      HMG-CoA-S_euk; 3-hydroxy-3-methylglutaryl-CoA-synthase, eukaryotic clade

    2. NM_145942.5 → NP_666054.2  hydroxymethylglutaryl-CoA synthase, cytoplasmic

      See identical proteins and their annotated locations for NP_666054.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript. Variants 1 and 2 both encode the same protein.
      Source sequence(s)
      AK031297, AK044835, CJ071929
      Consensus CDS
      CCDS56901.1
      UniProtKB/Swiss-Prot
      Q3UXI4, Q8JZK9
      UniProtKB/TrEMBL
      Q3UJ70, Q3UWQ9, Q8K0I5
      Related
      ENSMUSP00000153064.2, ENSMUST00000224188.2
      Conserved Domains (1) summary
      TIGR01833
      Location:13 → 469
      HMG-CoA-S_euk; 3-hydroxy-3-methylglutaryl-CoA-synthase, eukaryotic clade

    RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000079.7 Reference GRCm39 C57BL/6J

      Range
      120151887..120169796
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006517578.3 → XP_006517641.1  hydroxymethylglutaryl-CoA synthase, cytoplasmic isoform X2

      See identical proteins and their annotated locations for XP_006517641.1

      UniProtKB/Swiss-Prot
      Q3UXI4, Q8JZK9
      UniProtKB/TrEMBL
      Q3UJ70, Q3UWQ9, Q8K0I5
      Conserved Domains (1) summary
      TIGR01833
      Location:13 → 469
      HMG-CoA-S_euk; 3-hydroxy-3-methylglutaryl-CoA-synthase, eukaryotic clade

    2. XM_036157957.1 → XP_036013850.1  hydroxymethylglutaryl-CoA synthase, cytoplasmic isoform X1

      UniProtKB/TrEMBL
      Q3UJ70, Q3UWQ9, Q8K0I5
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8JZK9.1 GenPept UniProtKB/Swiss-Prot:Q8JZK9

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

    Chemical Information
    Molecular Biology Databases
    Research Materials
    Tools
    Miscellaneous