LCAT (lecithin-cholesterol acyltransferase)

2003-11-01  

Identity

HGNC
LCAT
LOCATION
16q22.1
LOCUSID
3931
ALIAS
-
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 3931
MIM: 606967
HGNC: 6522
Ensembl: ENSG00000213398

Variants:

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

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000213398ENST00000264005P04180
ENSG00000213398ENST00000264005A0A140VK24
ENSG00000213398ENST00000570369I3L1Q6
ENSG00000213398ENST00000570396I3L215
ENSG00000213398ENST00000570980J3QSE5
ENSG00000213398ENST00000573538J3QKT0
ENSG00000213398ENST00000575467I3L3R0
ENSG00000213398ENST00000576450I3L0J6

Expression (GTEx)

0
50
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

PathwaySourceExternal ID
Glycerophospholipid metabolismKEGGko00564
Glycerophospholipid metabolismKEGGhsa00564
MetabolismREACTOMER-HSA-1430728
Metabolism of lipids and lipoproteinsREACTOMER-HSA-556833
Lipid digestion, mobilization, and transportREACTOMER-HSA-73923
Lipoprotein metabolismREACTOMER-HSA-174824
HDL-mediated lipid transportREACTOMER-HSA-194223

References

Pubmed IDYearTitleCitations
364209002023Rapidly progressive renal failure to reveal LCAT deficiency in an Algerian family.0
364209002023Rapidly progressive renal failure to reveal LCAT deficiency in an Algerian family.0
355986372022Plasma FA composition in familial LCAT deficiency indicates SOAT2-derived cholesteryl ester formation in humans.2
355986372022Plasma FA composition in familial LCAT deficiency indicates SOAT2-derived cholesteryl ester formation in humans.2
342567782021LCAT deficiency: a systematic review with the clinical and genetic description of Mexican kindred.11
342567782021LCAT deficiency: a systematic review with the clinical and genetic description of Mexican kindred.11
324508922020ApoE and apoC-III-defined HDL subtypes: a descriptive study of their lecithin cholesterol acyl transferase and cholesteryl ester transfer protein content and activity.4
325615422020Esterification of 4β-hydroxycholesterol and other oxysterols in human plasma occurs independently of LCAT.5
326187302020Genetic, biochemical, and clinical features of LCAT deficiency: update for 2020.18
331730662020Single nucleotide polymorphisms in LCAT may contribute to dyslipidaemia in HIV-infected individuals on HAART in a Ghanaian population.2
332982492020Common plasma protein marker LCAT in aggressive human breast cancer and canine mammary tumor.8
324508922020ApoE and apoC-III-defined HDL subtypes: a descriptive study of their lecithin cholesterol acyl transferase and cholesteryl ester transfer protein content and activity.4
325615422020Esterification of 4β-hydroxycholesterol and other oxysterols in human plasma occurs independently of LCAT.5
326187302020Genetic, biochemical, and clinical features of LCAT deficiency: update for 2020.18
331730662020Single nucleotide polymorphisms in LCAT may contribute to dyslipidaemia in HIV-infected individuals on HAART in a Ghanaian population.2

Citation

Dessen P

LCAT (lecithin-cholesterol acyltransferase)

Atlas Genet Cytogenet Oncol Haematol. 2003-11-01

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