• Gene id: 3157

Gene Summary

• Gene Symbol: HMGCS1   Gene   UCSC   Ensembl
• Aliases: HMGCS
• Gene name: 3-hydroxy-3-methylglutaryl-CoA synthase 1
• Alternate names: hydroxymethylglutaryl-CoA synthase, cytoplasmic, 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),
• Gene location: 5p12 (43313476: 43287469)     Exons: 12     NC_000005.10
• OMIM: 142940

Protein Summary

• Protein general information: Q01581  
  • Name: Hydroxymethylglutaryl CoA synthase, cytoplasmic (HMG CoA synthase) (EC 2.3.3.10) (3 hydroxy 3 methylglutaryl coenzyme A synthase)
  • Length: 520  
  • Mass: 57294
• Sequence:

  MPGSLPLNAEACWPKDVGIVALEIYFPSQYVDQAELEKYDGVDAGKYTIGLGQAKMGFCTDREDINSLCMTVVQN
  LMERNNLSYDCIGRLEVGTETIIDKSKSVKTNLMQLFEESGNTDIEGIDTTNACYGGTAAVFNAVNWIESSSWDG
  RYALVVAGDIAVYATGNARPTGGVGAVALLIGPNAPLIFERGLRGTHMQHAYDFYKPDMLSEYPIVDGKLSIQCY
  LSALDRCYSVYCKKIHAQWQKEGNDKDFTLNDFGFMIFHSPYCKLVQKSLARMLLNDFLNDQNRDKNSIYSGLEA
  FGDVKLEDTYFDRDVEKAFMKASSELFSQKTKASLLVSNQNGNMYTSSVYGSLASVLAQYSPQQLAGKRIGVFSY
  GSGLAATLYSLKVTQDATPGSALDKITASLCDLKSRLDSRTGVAPDVFAENMKLREDTHHLVNYIPQGSIDSLFE
  GTWYLVRVDEKHRRTYARRPTPNDDTLDEGVGLVHSNIATEHIPSPAKKVPRLPATAAEPEAAVISNGEH

• Structural information:
  • Interpro: IPR000590  IPR013746  IPR013528  IPR010122  IPR016039  
  • Prosite: PS01226
  • PDB: 2P8U
  • PDBsum: 2P8U
  • STRING: ENSP00000322706
• Other Databases: GeneCards:  HMGCS1  Malacards:  HMGCS1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0010142	farnesyl diphosphate biosynthetic process, mevalonate pathway	IBA	biological process
GO:0006084	acetyl-CoA metabolic process	IBA	biological process
GO:0005829	cytosol	IBA	cellular component
GO:0004421	hydroxymethylglutaryl-CoA synthase activity	IBA	molecular function
GO:0042803	protein homodimerization activity	IDA	molecular function
GO:0008299	isoprenoid biosynthetic process	IEA	biological process
GO:0003824	catalytic activity	IEA	molecular function
GO:0004421	hydroxymethylglutaryl-CoA synthase activity	IEA	molecular function
GO:0006695	cholesterol biosynthetic process	IEA	biological process
GO:0016740	transferase activity	IEA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0008202	steroid metabolic process	IEA	biological process
GO:0006629	lipid metabolic process	IEA	biological process
GO:0008203	cholesterol metabolic process	IEA	biological process
GO:0006694	steroid biosynthetic process	IEA	biological process
GO:0016126	sterol biosynthetic process	IEA	biological process
GO:0004421	hydroxymethylglutaryl-CoA synthase activity	TAS	molecular function
GO:0005737	cytoplasm	TAS	cellular component
GO:0006629	lipid metabolic process	NAS	biological process
GO:0004421	hydroxymethylglutaryl-CoA synthase activity	IEA	molecular function
GO:0004421	hydroxymethylglutaryl-CoA synthase activity	TAS	molecular function
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0006695	cholesterol biosynthetic process	TAS	biological process
GO:0019216	regulation of lipid metabolic process	TAS	biological process
GO:0045540	regulation of cholesterol biosynthetic process	TAS	biological process
GO:0005829	cytosol	IEA	cellular component
GO:0009645	response to low light intensity stimulus	IEA	biological process
GO:0010033	response to organic substance	IEA	biological process
GO:0014070	response to organic cyclic compound	IEA	biological process
GO:0033197	response to vitamin E	IEA	biological process
GO:0043177	organic acid binding	IEA	molecular function
GO:0046690	response to tellurium ion	IEA	biological process
GO:0070723	response to cholesterol	IEA	biological process
GO:0071372	cellular response to follicle-stimulating hormone stimulus	IEA	biological process
GO:0071404	cellular response to low-density lipoprotein particle stimulus	IEA	biological process
GO:0001889	liver development	IEA	biological process
GO:0004421	hydroxymethylglutaryl-CoA synthase activity	IEA	molecular function
GO:0007420	brain development	IEA	biological process
GO:0008144	drug binding	IEA	molecular function
GO:0008584	male gonad development	IEA	biological process
GO:0009725	response to hormone	IEA	biological process
GO:0014074	response to purine-containing compound	IEA	biological process
GO:0016853	isomerase activity	IEA	molecular function
GO:0034698	response to gonadotropin	IEA	biological process
GO:0042493	response to drug	IEA	biological process
GO:0042802	identical protein binding	IEA	molecular function
GO:0071397	cellular response to cholesterol	IEA	biological process
GO:0071407	cellular response to organic cyclic compound	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa03320	PPAR signaling pathway
hsa00280	Valine, leucine and isoleucine degradation
hsa00650	Butanoate metabolism
hsa00900	Terpenoid backbone biosynthesis
hsa00072	Synthesis and degradation of ketone bodies

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Hypospermatogenesis	MIK: 28361989
Teratozoospermia	MIK: 17327269
Unexplained infertility	MIK: 25753583

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28361989	Hypospermatogenesis			6 (3 controls, 3 Klienfelter syndrome	Male infertility	Microarray
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray