HMGCS1 (3-hydroxy-3-methylglutaryl-CoA synthase 1)

2017-08-01 Affiliation

Identity

HGNC

HMGCS1

LOCATION

5p12

LOCUSID

3157

ALIAS

HMGCS

FUSION GENES

Show Gene Fusions

Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool

Other Information

Locus ID:

NCBI: 3157
MIM: 142940
HGNC: 5007
Ensembl: ENSG00000112972

Variants:

dbSNP: 3157
ClinVar: 3157
TCGA: ENSG00000112972
COSMIC: HMGCS1

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000112972	ENST00000325110	Q01581
ENSG00000112972	ENST00000325110	A0A024R059
ENSG00000112972	ENST00000433297	Q01581
ENSG00000112972	ENST00000433297	A0A024R059
ENSG00000112972	ENST00000511774	D6RIW1

Expression (GTEx)

100

150

200

Adipose - Subcutaneous

Adipose - Visceral

Adrenal Gland

Artery - Aorta

Artery - Tibial

Bladder

Brain - Amygdala

Brain - Anterior cingulate cortex

Brain - Caudate

Brain - Cerebellar Hemisphere

Brain - Cerebellum

Brain - Cortex

Brain - Frontal Cortex

Brain - Hippocampus

Brain - Hypothalamus

Brain - Nucleus accumbens

Brain - Putamen

Brain - Spinal cord

Brain - Substantia nigra

Breast - Mammary Tissue

Cells - Cultured fibroblasts

Cells - EBV - transformed lymphocytes

Cervix - Ectocervix

Cervix - Endocervix

Colon - Sigmoid

Colon - Transverse

Esophagus - Gastroesophageal Junction

Esophagus - Mucosa

Esophagus - Muscularis

Fallopian Tube

Heart - Atrial Appendage

Heart - Left Ventricle

Kidney - Cortex

Kidney - Medulla

Liver

Lung

Minor Salivary Gland

Muscle - Skeletal

Nerve - Tibial

Ovary

Pancreas

Pituitary

Prostate

Skin - Not Sun Exposed

Skin - Sun Exposed

Small Intestine - Terminal Ileum

Spleen

Stomach

Testis

Thyroid

Uterus

Vagina

Whole Blood

Pathways

Pathway	Source	External ID
Synthesis and degradation of ketone bodies	KEGG	ko00072
Valine, leucine and isoleucine degradation	KEGG	ko00280
Butanoate metabolism	KEGG	ko00650
Terpenoid backbone biosynthesis	KEGG	ko00900
Synthesis and degradation of ketone bodies	KEGG	hsa00072
Valine, leucine and isoleucine degradation	KEGG	hsa00280
Butanoate metabolism	KEGG	hsa00650
Terpenoid backbone biosynthesis	KEGG	hsa00900
Metabolic pathways	KEGG	hsa01100
C5 isoprenoid biosynthesis, mevalonate pathway	KEGG	hsa_M00095
C5 isoprenoid biosynthesis, mevalonate pathway	KEGG	M00095
Metabolism	REACTOME	R-HSA-1430728
Metabolism of lipids and lipoproteins	REACTOME	R-HSA-556833
Fatty acid, triacylglycerol, and ketone body metabolism	REACTOME	R-HSA-535734
Regulation of lipid metabolism by Peroxisome proliferator-activated receptor alpha (PPARalpha)	REACTOME	R-HSA-400206
PPARA activates gene expression	REACTOME	R-HSA-1989781
Cholesterol biosynthesis	REACTOME	R-HSA-191273
Regulation of cholesterol biosynthesis by SREBP (SREBF)	REACTOME	R-HSA-1655829
Activation of gene expression by SREBF (SREBP)	REACTOME	R-HSA-2426168

Protein levels (Protein atlas)

Not detected

Low

Medium

High

References

Pubmed ID	Year	Title	Citations
18636124	2008	Polymorphisms in the estrogen receptor 1 and vitamin C and matrix metalloproteinase gene families are associated with susceptibility to lymphoma.	32
18660489	2008	Multiple genetic variants along candidate pathways influence plasma high-density lipoprotein cholesterol concentrations.	26
20346956	2010	Crystal structures of human HMG-CoA synthase isoforms provide insights into inherited ketogenesis disorders and inhibitor design.	12
19088433	2008	Transcriptional regulation of HMG-CoA synthase and HMG-CoA reductase genes by human ACBP.	10
30537987	2018	The isomiR-140-3p-regulated mevalonic acid pathway as a potential target for prevention of triple negative breast cancer.	6
28468827	2017	HMG-CoA synthase 1 is a synthetic lethal partner of BRAF<sup>V600E</sup> in human cancers.	3

Citation

Dessen P

HMGCS1 (3-hydroxy-3-methylglutaryl-CoA synthase 1)

Atlas Genet Cytogenet Oncol Haematol. 2017-08-01

Online version: http://atlasgeneticsoncology.org/gene/56992/hmgcs1