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

2014-11-01  

Identity

HGNC
HMGCLL1
LOCATION
6p12.1
LOCUSID
54511
ALIAS
ERCHL,bA418P12.1,er-cHL
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 54511
HGNC: 21359
Ensembl: ENSG00000146151

Variants:

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

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000146151ENST00000274901Q8TB92
ENSG00000146151ENST00000308161Q8TB92
ENSG00000146151ENST00000370850B7Z212
ENSG00000146151ENST00000370852Q8TB92
ENSG00000146151ENST00000398661Q8TB92
ENSG00000146151ENST00000428842G5E9S9
ENSG00000146151ENST00000508459B7Z4D4
ENSG00000146151ENST00000515546D6RHJ2

Expression (GTEx)

0
1
2
3
4
5
6
7
8
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
Synthesis and degradation of ketone bodiesKEGGhsa00072
Valine, leucine and isoleucine degradationKEGGhsa00280
Butanoate metabolismKEGGhsa00650
PeroxisomeKEGGko04146
PeroxisomeKEGGhsa04146
Metabolic pathwaysKEGGhsa01100
Leucine degradation, leucine => acetoacetate + acetyl-CoAKEGGhsa_M00036
Leucine degradation, leucine => acetoacetate + acetyl-CoAKEGGM00036
MetabolismREACTOMER-HSA-1430728
Metabolism of lipids and lipoproteinsREACTOMER-HSA-556833
Fatty acid, triacylglycerol, and ketone body metabolismREACTOMER-HSA-535734
Ketone body metabolismREACTOMER-HSA-74182
Synthesis of Ketone BodiesREACTOMER-HSA-77111

References

Pubmed IDYearTitleCitations
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.62
228658602012Identification and characterization of an extramitochondrial human 3-hydroxy-3-methylglutaryl-CoA lyase.8
228471772012Characterization of a novel HMG-CoA lyase enzyme with a dual location in endoplasmic reticulum and cytosol.4

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/hmgcll1