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

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

Summary

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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
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Genomic context

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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

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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

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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

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Alleles

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

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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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

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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)

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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

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