LRAT (lecithin retinol acyltransferase)

2007-02-01  

Identity

HGNC
LRAT
LOCATION
4q32.1
LOCUSID
9227
ALIAS
LCA14
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 9227
MIM: 604863
HGNC: 6685
Ensembl: ENSG00000121207

Variants:

dbSNP: 9227
ClinVar: 9227
TCGA: ENSG00000121207
COSMIC: LRAT

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000121207ENST00000336356O95237
ENSG00000121207ENST00000502525D6RC94
ENSG00000121207ENST00000507827O95237

Expression (GTEx)

0
1
2
3
4
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
Retinol metabolismKEGGko00830
Retinol metabolismKEGGhsa00830
Vitamin digestion and absorptionKEGGko04977
Vitamin digestion and absorptionKEGGhsa04977
Signal TransductionREACTOMER-HSA-162582
Visual phototransductionREACTOMER-HSA-2187338
Retinoid metabolism and transportREACTOMER-HSA-975634
The canonical retinoid cycle in rods (twilight vision)REACTOMER-HSA-2453902
MetabolismREACTOMER-HSA-1430728
Metabolism of vitamins and cofactorsREACTOMER-HSA-196854
Metabolism of fat-soluble vitaminsREACTOMER-HSA-6806667

References

Pubmed IDYearTitleCitations
299732772018A novel LRAT mutation affecting splicing in a family with early onset retinitis pigmentosa.7
299732772018A novel LRAT mutation affecting splicing in a family with early onset retinitis pigmentosa.7
287583962017Impact of LCA-Associated E14L LRAT Mutation on Protein Stability and Retinoid Homeostasis.7
289420932017A novel homozygous mutation causing lecithin-cholesterol acyltransferase deficiency in a proband of Romanian origin with a record of extreme gestational hyperlipidemia.4
287583962017Impact of LCA-Associated E14L LRAT Mutation on Protein Stability and Retinoid Homeostasis.7
289420932017A novel homozygous mutation causing lecithin-cholesterol acyltransferase deficiency in a proband of Romanian origin with a record of extreme gestational hyperlipidemia.4
253837592015LRAT-specific domain facilitates vitamin A metabolism by domain swapping in HRASLS3.32
253837592015LRAT-specific domain facilitates vitamin A metabolism by domain swapping in HRASLS3.32
238901612014Hepatic stellate cells that coexpress LRAT and CRBP-1 partially contribute to portal fibrogenesis in patients with human viral hepatitis.5
246134932014Enzymatic activity of Lecithin:retinol acyltransferase: a thermostable and highly active enzyme with a likely mode of interfacial activation.2
252363542014Knockdown of lecithin retinol acyltransferase increases all-trans retinoic acid levels and restores retinoid sensitivity in malignant melanoma cells.2
252608062014High incidence of LRAT promoter hypermethylation in colorectal cancer correlates with tumor stage.6
238901612014Hepatic stellate cells that coexpress LRAT and CRBP-1 partially contribute to portal fibrogenesis in patients with human viral hepatitis.5
246134932014Enzymatic activity of Lecithin:retinol acyltransferase: a thermostable and highly active enzyme with a likely mode of interfacial activation.2
252363542014Knockdown of lecithin retinol acyltransferase increases all-trans retinoic acid levels and restores retinoid sensitivity in malignant melanoma cells.2

Citation

Dessen P

LRAT (lecithin retinol acyltransferase)

Atlas Genet Cytogenet Oncol Haematol. 2007-02-01

Online version: http://atlasgeneticsoncology.org/gene/43955