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

2017-08-01  

Identity

HGNC
HMGCS1
LOCATION
5p12
LOCUSID
3157
ALIAS
HMGCS
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

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

Variants:

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

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000112972ENST00000325110Q01581
ENSG00000112972ENST00000325110A0A024R059
ENSG00000112972ENST00000433297Q01581
ENSG00000112972ENST00000433297A0A024R059
ENSG00000112972ENST00000511774D6RIW1

Expression (GTEx)

0
50
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

PathwaySourceExternal ID
Synthesis and degradation of ketone bodiesKEGGko00072
Valine, leucine and isoleucine degradationKEGGko00280
Butanoate metabolismKEGGko00650
Terpenoid backbone biosynthesisKEGGko00900
Synthesis and degradation of ketone bodiesKEGGhsa00072
Valine, leucine and isoleucine degradationKEGGhsa00280
Butanoate metabolismKEGGhsa00650
Terpenoid backbone biosynthesisKEGGhsa00900
Metabolic pathwaysKEGGhsa01100
C5 isoprenoid biosynthesis, mevalonate pathwayKEGGhsa_M00095
C5 isoprenoid biosynthesis, mevalonate pathwayKEGGM00095
MetabolismREACTOMER-HSA-1430728
Metabolism of lipids and lipoproteinsREACTOMER-HSA-556833
Fatty acid, triacylglycerol, and ketone body metabolismREACTOMER-HSA-535734
Regulation of lipid metabolism by Peroxisome proliferator-activated receptor alpha (PPARalpha)REACTOMER-HSA-400206
PPARA activates gene expressionREACTOMER-HSA-1989781
Cholesterol biosynthesisREACTOMER-HSA-191273
Regulation of cholesterol biosynthesis by SREBP (SREBF)REACTOMER-HSA-1655829
Activation of gene expression by SREBF (SREBP)REACTOMER-HSA-2426168

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
383081842024CSN6-SPOP-HMGCS1 Axis Promotes Hepatocellular Carcinoma Progression via YAP1 Activation.5
386084462024Decreased HMGCS1 inhibits proliferation and inflammatory response of keratinocytes and ameliorates imiquimod-induced psoriasis via the STAT3/IL-23 axis.0
383081842024CSN6-SPOP-HMGCS1 Axis Promotes Hepatocellular Carcinoma Progression via YAP1 Activation.5
386084462024Decreased HMGCS1 inhibits proliferation and inflammatory response of keratinocytes and ameliorates imiquimod-induced psoriasis via the STAT3/IL-23 axis.0
363281172023Compartmentalized activities of HMGCS1 control cervical cancer radiosensitivity.3
367022902023P4HA1 activates HMGCS1 to promote nasopharyngeal carcinoma ferroptosis resistance and progression.4
367342752023VIM‑AS1 promotes proliferation and drives enzalutamide resistance in prostate cancer via IGF2BP2‑mediated HMGCS1 mRNA stabilization.3
363281172023Compartmentalized activities of HMGCS1 control cervical cancer radiosensitivity.3
367022902023P4HA1 activates HMGCS1 to promote nasopharyngeal carcinoma ferroptosis resistance and progression.4
367342752023VIM‑AS1 promotes proliferation and drives enzalutamide resistance in prostate cancer via IGF2BP2‑mediated HMGCS1 mRNA stabilization.3
344549082022Interaction of Gal-7 with HMGCS1 In Vitro May Facilitate Cholesterol Deposition in Cultured Keratinocytes.1
345499012022Pan-cancer analysis reveals the oncogenic role of 3-hydroxy-3-methylglutaryl-CoA synthase 1.9
363569012022Antidiabetic drug metformin suppresses tumorigenesis through inhibition of mevalonate pathway enzyme HMGCS1.2
344549082022Interaction of Gal-7 with HMGCS1 In Vitro May Facilitate Cholesterol Deposition in Cultured Keratinocytes.1
345499012022Pan-cancer analysis reveals the oncogenic role of 3-hydroxy-3-methylglutaryl-CoA synthase 1.9

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-(3-hydroxy-3-methylglutaryl-coa-synthase-1)