LCAT (lecithin-cholesterol acyltransferase)

2003-11-01 Affiliation

Identity

HGNC

LCAT

LOCATION

16q22.1

LOCUSID

3931

ALIAS

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: 3931
MIM: 606967
HGNC: 6522
Ensembl: ENSG00000213398

Variants:

dbSNP: 3931
ClinVar: 3931
TCGA: ENSG00000213398
COSMIC: LCAT

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000213398	ENST00000264005	P04180
ENSG00000213398	ENST00000264005	A0A140VK24
ENSG00000213398	ENST00000570369	I3L1Q6
ENSG00000213398	ENST00000570396	I3L215
ENSG00000213398	ENST00000570980	J3QSE5
ENSG00000213398	ENST00000573538	J3QKT0
ENSG00000213398	ENST00000575467	I3L3R0
ENSG00000213398	ENST00000576450	I3L0J6

Expression (GTEx)

100

150

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
Glycerophospholipid metabolism	KEGG	ko00564
Glycerophospholipid metabolism	KEGG	hsa00564
Metabolism	REACTOME	R-HSA-1430728
Metabolism of lipids and lipoproteins	REACTOME	R-HSA-556833
Lipid digestion, mobilization, and transport	REACTOME	R-HSA-73923
Lipoprotein metabolism	REACTOME	R-HSA-174824
HDL-mediated lipid transport	REACTOME	R-HSA-194223

References

Pubmed ID	Year	Title	Citations
19060906	2009	Common variants at 30 loci contribute to polygenic dyslipidemia.	552
15297675	2004	Multiple rare alleles contribute to low plasma levels of HDL cholesterol.	405
15297675	2004	Multiple rare alleles contribute to low plasma levels of HDL cholesterol.	405
20714348	2010	Common inherited variation in mitochondrial genes is not enriched for associations with type 2 diabetes or related glycemic traits.	246
19913121	2009	Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.	85
18719109	2008	Methionine oxidation impairs reverse cholesterol transport by apolipoprotein A-I.	73
19306528	2009	Lecithin: cholesterol acyltransferase--from biochemistry to role in cardiovascular disease.	45
22090275	2012	LCAT, HDL cholesterol and ischemic cardiovascular disease: a Mendelian randomization study of HDL cholesterol in 54,500 individuals.	45
17855807	2007	Maternal and fetal variation in genes of cholesterol metabolism is associated with preterm delivery.	36
16061733	2005	Compromised LCAT function is associated with increased atherosclerosis.	35

Citation

Dessen P

LCAT (lecithin-cholesterol acyltransferase)

Atlas Genet Cytogenet Oncol Haematol. 2003-11-01

Online version: http://atlasgeneticsoncology.org/gene/41129/lcat