LRAT (lecithin retinol acyltransferase)

2007-02-01 Affiliation

Identity

HGNC

LRAT

LOCATION

4q32.1

LOCUSID

9227

ALIAS

LCA14

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: 9227
MIM: 604863
HGNC: 6685
Ensembl: ENSG00000121207

Variants:

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

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000121207	ENST00000336356	O95237
ENSG00000121207	ENST00000502525	D6RC94
ENSG00000121207	ENST00000507827	O95237

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
Retinol metabolism	KEGG	ko00830
Retinol metabolism	KEGG	hsa00830
Vitamin digestion and absorption	KEGG	ko04977
Vitamin digestion and absorption	KEGG	hsa04977
Signal Transduction	REACTOME	R-HSA-162582
Visual phototransduction	REACTOME	R-HSA-2187338
Retinoid metabolism and transport	REACTOME	R-HSA-975634
The canonical retinoid cycle in rods (twilight vision)	REACTOME	R-HSA-2453902
Metabolism	REACTOME	R-HSA-1430728
Metabolism of vitamins and cofactors	REACTOME	R-HSA-196854
Metabolism of fat-soluble vitamins	REACTOME	R-HSA-6806667

References

Pubmed ID	Year	Title	Citations
16115871	2005	Retinoid absorption and storage is impaired in mice lacking lecithin:retinol acyltransferase (LRAT).	128
18823527	2008	A genome-wide association study for late-onset Alzheimer's disease using DNA pooling.	74
20574532	2010	Intermediate phenotypes identify divergent pathways to Alzheimer's disease.	24
22605381	2012	Structural basis for the acyltransferase activity of lecithin:retinol acyltransferase-like proteins.	24
20591486	2010	Development of a diagnostic genetic test for simplex and autosomal recessive retinitis pigmentosa.	22
14596594	2003	Lecithin retinol acyltransferase is a founder member of a novel family of enzymes.	17
17011878	2006	Screening genes of the retinoid metabolism: novel LRAT mutation in leber congenital amaurosis.	16
25383759	2015	LRAT-specific domain facilitates vitamin A metabolism by domain swapping in HRASLS3.	14
22559933	2012	A homozygous frameshift mutation in LRAT causes retinitis punctata albescens.	12
19665987	2009	An essential set of basic DNA response elements is required for receptor-dependent transcription of the lecithin:retinol acyltransferase (Lrat) gene.	11

Citation

Dessen P

LRAT (lecithin retinol acyltransferase)

Atlas Genet Cytogenet Oncol Haematol. 2007-02-01

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