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HMGCS1 3-hydroxy-3-methylglutaryl-CoA synthase 1 [ Homo sapiens (human) ]

Gene ID: 3157, updated on 5-Jan-2020

Summary

Official Symbol
HMGCS1provided by HGNC
Official Full Name
3-hydroxy-3-methylglutaryl-CoA synthase 1provided by HGNC
Primary source
HGNC:HGNC:5007
See related
Ensembl:ENSG00000112972 MIM:142940
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
HMGCS
Expression
Ubiquitous expression in brain (RPKM 48.5), liver (RPKM 37.3) and 23 other tissues See more
Orthologs

Genomic context

See HMGCS1 in Genome Data Viewer
Location:
5p12
Exon count:
12
Annotation release Status Assembly Chr Location
109.20191205 current GRCh38.p13 (GCF_000001405.39) 5 NC_000005.10 (43287470..43313477, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (43287572..43313614, complement)

Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene spermine synthase pseudogene Neighboring gene NIM1 serine/threonine protein kinase Neighboring gene tubulin alpha 3e pseudogene Neighboring gene CRISPRi-validated cis-regulatory element chr5.1234 Neighboring gene 60S acidic ribosomal protein P1 pseudogene

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

HIV-1 interactions

Replication interactions

Interaction Pubs
Knockdown of 3-hydroxy-3-methylglutaryl-CoA synthase 1 (HMGCS1) by siRNA inhibits the early stages of HIV-1 replication in 293T cells infected with VSV-G pseudotyped HIV-1 PubMed

Go to the HIV-1, Human Interaction Database

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC90332

Gene Ontology Provided by GOA

Function Evidence Code Pubs
drug binding IEA
Inferred from Electronic Annotation
more info
 
hydroxymethylglutaryl-CoA synthase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
hydroxymethylglutaryl-CoA synthase activity TAS
Traceable Author Statement
more info
 
isomerase activity IEA
Inferred from Electronic Annotation
more info
 
organic acid binding IEA
Inferred from Electronic Annotation
more info
 
protein homodimerization activity IDA
Inferred from Direct Assay
more info
PubMed 
Process Evidence Code Pubs
acetyl-CoA metabolic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
brain development IEA
Inferred from Electronic Annotation
more info
 
cellular response to cholesterol IEA
Inferred from Electronic Annotation
more info
 
cellular response to follicle-stimulating hormone stimulus IEA
Inferred from Electronic Annotation
more info
 
cellular response to low-density lipoprotein particle stimulus IEA
Inferred from Electronic Annotation
more info
 
cholesterol biosynthetic process TAS
Traceable Author Statement
more info
 
farnesyl diphosphate biosynthetic process, mevalonate pathway IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
lipid metabolic process NAS
Non-traceable Author Statement
more info
PubMed 
liver development IEA
Inferred from Electronic Annotation
more info
 
male gonad development IEA
Inferred from Electronic Annotation
more info
 
regulation of cholesterol biosynthetic process TAS
Traceable Author Statement
more info
 
regulation of lipid metabolic process TAS
Traceable Author Statement
more info
 
response to drug IEA
Inferred from Electronic Annotation
more info
 
response to low light intensity stimulus IEA
Inferred from Electronic Annotation
more info
 
response to purine-containing compound IEA
Inferred from Electronic Annotation
more info
 
response to tellurium ion IEA
Inferred from Electronic Annotation
more info
 
response to vitamin E IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
cytoplasm TAS
Traceable Author Statement
more info
PubMed 
cytosol IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cytosol TAS
Traceable Author Statement
more info
 

General protein information

Preferred Names
hydroxymethylglutaryl-CoA synthase, cytoplasmic
Names
3-hydroxy-3-methylglutaryl coenzyme A (HMG-CoA) synthase
3-hydroxy-3-methylglutaryl-CoA synthase 1 (soluble)
3-hydroxy-3-methylglutaryl-Coenzyme A synthase 1 (soluble)
NP_001091742.1
NP_001311148.1
NP_001311149.1
NP_001311151.1
NP_001311152.1
NP_001311153.1
NP_001317592.1
NP_001351117.1
NP_002121.4
XP_011512338.1
XP_024301806.1

NCBI Reference Sequences (RefSeq)

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_001098272.3NP_001091742.1  hydroxymethylglutaryl-CoA synthase, cytoplasmic isoform 1

    See identical proteins and their annotated locations for NP_001091742.1

    Status: VALIDATED

    Source sequence(s)
    AC114947, AK315593
    Consensus CDS
    CCDS34154.1
    UniProtKB/Swiss-Prot
    Q01581
    UniProtKB/TrEMBL
    A0A024R059
    Related
    ENSP00000322706.6, ENST00000325110.11
    Conserved Domains (1) summary
    TIGR01833
    Location:13469
    HMG-CoA-S_euk; 3-hydroxy-3-methylglutaryl-CoA-synthase, eukaryotic clade
  2. NM_001324219.2NP_001311148.1  hydroxymethylglutaryl-CoA synthase, cytoplasmic isoform 1

    Status: VALIDATED

    Source sequence(s)
    AC114947, AK315593, DA801434
    Consensus CDS
    CCDS34154.1
    UniProtKB/Swiss-Prot
    Q01581
    UniProtKB/TrEMBL
    A0A024R059
    Conserved Domains (1) summary
    TIGR01833
    Location:13469
    HMG-CoA-S_euk; 3-hydroxy-3-methylglutaryl-CoA-synthase, eukaryotic clade
  3. NM_001324220.2NP_001311149.1  hydroxymethylglutaryl-CoA synthase, cytoplasmic isoform 1

    Status: VALIDATED

    Source sequence(s)
    AC114947, AK315593, BJ995153
    Consensus CDS
    CCDS34154.1
    UniProtKB/Swiss-Prot
    Q01581
    UniProtKB/TrEMBL
    A0A024R059
    Conserved Domains (1) summary
    TIGR01833
    Location:13469
    HMG-CoA-S_euk; 3-hydroxy-3-methylglutaryl-CoA-synthase, eukaryotic clade
  4. NM_001324222.2NP_001311151.1  hydroxymethylglutaryl-CoA synthase, cytoplasmic isoform 2

    Status: VALIDATED

    Source sequence(s)
    AC114947, AK315593
    UniProtKB/Swiss-Prot
    Q01581
    Conserved Domains (3) summary
    TIGR01833
    Location:13427
    HMG-CoA-S_euk; 3-hydroxy-3-methylglutaryl-CoA-synthase, eukaryotic clade
    pfam08540
    Location:150427
    HMG_CoA_synt_C; Hydroxymethylglutaryl-coenzyme A synthase C terminal
    cl09938
    Location:16150
    cond_enzymes; Condensing enzymes; Family of enzymes that catalyze a (decarboxylating or non-decarboxylating) Claisen-like condensation reaction. Members are share strong structural similarity, and are involved in the synthesis and degradation of fatty acids, and the ...
  5. NM_001324223.2NP_001311152.1  hydroxymethylglutaryl-CoA synthase, cytoplasmic isoform 2

    Status: VALIDATED

    Source sequence(s)
    AC114947, AK315593, DB074885
    UniProtKB/Swiss-Prot
    Q01581
  6. NM_001324224.2NP_001311153.1  hydroxymethylglutaryl-CoA synthase, cytoplasmic isoform 2

    Status: VALIDATED

    Source sequence(s)
    AC114947, AK315593, BJ995153
    UniProtKB/Swiss-Prot
    Q01581
  7. NM_001330663.2NP_001317592.1  hydroxymethylglutaryl-CoA synthase, cytoplasmic isoform 1

    Status: VALIDATED

    Source sequence(s)
    AC114947
    Consensus CDS
    CCDS34154.1
    UniProtKB/Swiss-Prot
    Q01581
    UniProtKB/TrEMBL
    A0A024R059
    Conserved Domains (1) summary
    TIGR01833
    Location:13469
    HMG-CoA-S_euk; 3-hydroxy-3-methylglutaryl-CoA-synthase, eukaryotic clade
  8. NM_001364188.2NP_001351117.1  hydroxymethylglutaryl-CoA synthase, cytoplasmic isoform 1

    Status: VALIDATED

    Source sequence(s)
    AC114947
    Conserved Domains (1) summary
    TIGR01833
    Location:13469
    HMG-CoA-S_euk; 3-hydroxy-3-methylglutaryl-CoA-synthase, eukaryotic clade
  9. NM_002130.8NP_002121.4  hydroxymethylglutaryl-CoA synthase, cytoplasmic isoform 1

    See identical proteins and their annotated locations for NP_002121.4

    Status: VALIDATED

    Source sequence(s)
    AC114947
    Consensus CDS
    CCDS34154.1
    UniProtKB/Swiss-Prot
    Q01581
    UniProtKB/TrEMBL
    A0A024R059
    Related
    ENSP00000399402.2, ENST00000433297.2
    Conserved Domains (1) summary
    TIGR01833
    Location:13469
    HMG-CoA-S_euk; 3-hydroxy-3-methylglutaryl-CoA-synthase, eukaryotic clade

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20191205

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000005.10 Reference GRCh38.p13 Primary Assembly

    Range
    43287470..43313477 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_024446038.1XP_024301806.1  hydroxymethylglutaryl-CoA synthase, cytoplasmic isoform X1

    Conserved Domains (1) summary
    cl27874
    Location:1272
    HMG_CoA_synt_C; Hydroxymethylglutaryl-coenzyme A synthase C terminal
  2. XM_011514036.3XP_011512338.1  hydroxymethylglutaryl-CoA synthase, cytoplasmic isoform X1

    Conserved Domains (1) summary
    cl27874
    Location:1272
    HMG_CoA_synt_C; Hydroxymethylglutaryl-coenzyme A synthase C terminal
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