HMGCLL1 (3-hydroxymethyl-3-methylglutaryl-CoA lyase like 1)

2014-11-01 Affiliation

Identity

HGNC

HMGCLL1

LOCATION

6p12.1

LOCUSID

54511

ALIAS

ERCHL,bA418P12.1,er-cHL

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: 54511
HGNC: 21359
Ensembl: ENSG00000146151

Variants:

dbSNP: 54511
ClinVar: 54511
TCGA: ENSG00000146151
COSMIC: HMGCLL1

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000146151	ENST00000274901	Q8TB92
ENSG00000146151	ENST00000308161	Q8TB92
ENSG00000146151	ENST00000370850	B7Z212
ENSG00000146151	ENST00000370852	Q8TB92
ENSG00000146151	ENST00000398661	Q8TB92
ENSG00000146151	ENST00000428842	G5E9S9
ENSG00000146151	ENST00000508459	B7Z4D4
ENSG00000146151	ENST00000515546	D6RHJ2

Expression (GTEx)

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
Synthesis and degradation of ketone bodies	KEGG	hsa00072
Valine, leucine and isoleucine degradation	KEGG	hsa00280
Butanoate metabolism	KEGG	hsa00650
Peroxisome	KEGG	ko04146
Peroxisome	KEGG	hsa04146
Metabolic pathways	KEGG	hsa01100
Leucine degradation, leucine => acetoacetate + acetyl-CoA	KEGG	hsa_M00036
Leucine degradation, leucine => acetoacetate + acetyl-CoA	KEGG	M00036
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
Ketone body metabolism	REACTOME	R-HSA-74182
Synthesis of Ketone Bodies	REACTOME	R-HSA-77111

References

Pubmed ID	Year	Title	Citations
22847177	2012	Characterization of a novel HMG-CoA lyase enzyme with a dual location in endoplasmic reticulum and cytosol.	5
22865860	2012	Identification and characterization of an extramitochondrial human 3-hydroxy-3-methylglutaryl-CoA lyase.	11
22847177	2012	Characterization of a novel HMG-CoA lyase enzyme with a dual location in endoplasmic reticulum and cytosol.	5
22865860	2012	Identification and characterization of an extramitochondrial human 3-hydroxy-3-methylglutaryl-CoA lyase.	11
20379614	2010	Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.	78
20379614	2010	Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.	78

Citation

Dessen P

HMGCLL1 (3-hydroxymethyl-3-methylglutaryl-CoA lyase like 1)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/64348