LRAT | ENSG00000121207 | NCBI 9227

Details for: LRAT

Gene ID: 9227

Symbol: LRAT

Ensembl ID: ENSG00000121207

Description: lecithin retinol acyltransferase

Associated with

Disease
(R-HSA-1643685)
Diseases associated with visual transduction
(R-HSA-2474795)
Diseases of the neuronal system
(R-HSA-9675143)
Metabolism
(R-HSA-1430728)
Metabolism of fat-soluble vitamins
(R-HSA-6806667)
Metabolism of vitamins and cofactors
(R-HSA-196854)
Retinoid cycle disease events
(R-HSA-2453864)
Retinoid metabolism and transport
(R-HSA-975634)
Sensory perception
(R-HSA-9709957)
The canonical retinoid cycle in rods (twilight vision)
(R-HSA-2453902)
Visual phototransduction
(R-HSA-2187338)
Acyltransferase activity
(GO:0016746)
Cellular response to leukemia inhibitory factor
(GO:1990830)
Endoplasmic reticulum
(GO:0005783)
Endoplasmic reticulum membrane
(GO:0005789)
Lecithin:11-cis retinol acyltransferase activity
(GO:0102279)
Multivesicular body
(GO:0005771)
O-palmitoyltransferase activity
(GO:0016416)
Perinuclear region of cytoplasm
(GO:0048471)
Phosphatidylcholine-retinol o-acyltransferase activity
(GO:0047173)
Positive regulation of lipid transport
(GO:0032370)
Protein binding
(GO:0005515)
Response to bacterium
(GO:0009617)
Response to retinoic acid
(GO:0032526)
Response to vitamin a
(GO:0033189)
Retinoic acid binding
(GO:0001972)
Retinoid metabolic process
(GO:0001523)
Retinol binding
(GO:0019841)
Retinol metabolic process
(GO:0042572)
Rough endoplasmic reticulum
(GO:0005791)
Visual perception
(GO:0007601)
Vitamin a metabolic process
(GO:0006776)

Other Information

Proteins

Phosphatidylcholine--retinol O-acyltransferase

Genular Protein ID: 3730077108

Symbol: LRAT_HUMAN

Name: Phosphatidylcholine--retinol O-acyltransferase

UniProtKB Accession Codes:

O95237 A8K983 Q8N716

Database IDs:

Citations:

PubMed ID: 9920938

Title: Molecular and biochemical characterization of lecithin retinol acyltransferase.

PubMed ID: 9920938

DOI: 10.1074/jbc.274.6.3834

PubMed ID: 15474300

Title: Cloning, gene organization and identification of an alternative splicing process in lecithin:retinol acyltransferase cDNA from human liver.

PubMed ID: 15474300

DOI: 10.1016/j.gene.2004.06.043

PubMed ID: 14702039

Title: Complete sequencing and characterization of 21,243 full-length human cDNAs.

PubMed ID: 14702039

DOI: 10.1038/ng1285

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 10819989

Title: Lecithin retinol acyltransferase contains cysteine residues essential for catalysis.

PubMed ID: 10819989

DOI: 10.1021/bi9929554

PubMed ID: 18055821

Title: Identification of novel mutations in patients with Leber congenital amaurosis and juvenile RP by genome-wide homozygosity mapping with SNP microarrays.

PubMed ID: 18055821

DOI: 10.1167/iovs.07-0610

PubMed ID: 18544127

Title: Lecithin: retinol acyltransferase protein is distributed in both hepatic stellate cells and endothelial cells of normal rodent and human liver.

PubMed ID: 18544127

DOI: 10.1111/j.1478-3231.2008.01773.x

PubMed ID: 11381255

Title: Mutations in the gene encoding lecithin retinol acyltransferase are associated with early-onset severe retinal dystrophy.

PubMed ID: 11381255

DOI: 10.1038/88828

PubMed ID: 17011878

Title: Screening genes of the retinoid metabolism: novel LRAT mutation in Leber congenital amaurosis.

PubMed ID: 17011878

DOI: 10.1016/j.ajo.2006.04.057

Sequence Information:

Length: 230
Mass: 25703
Checksum: DCB7F5A1C3FF7689
Sequence:

MKNPMLEVVS LLLEKLLLIS NFTLFSSGAA GEDKGRNSFY ETSSFHRGDV LEVPRTHLTH 
YGIYLGDNRV AHMMPDILLA LTDDMGRTQK VVSNKRLILG VIVKVASIRV DTVEDFAYGA 
NILVNHLDES LQKKALLNEE VARRAEKLLG FTPYSLLWNN CEHFVTYCRY GTPISPQSDK 
FCETVKIIIR DQRSVLASAV LGLASIVCTG LVSYTTLPAI FIPFFLWMAG

The gene details are incomplete or unavailable at the moment.

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.

Details for: LRAT

Associated with

Other Information

Molecular and biochemical characterization of lecithin retinol acyltransferase. PubMed ID: 9920938

Cloning, gene organization and identification of an alternative splicing process in lecithin:retinol acyltransferase cDNA from human liver. PubMed ID: 15474300

Complete sequencing and characterization of 21,243 full-length human cDNAs. PubMed ID: 14702039

The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). PubMed ID: 15489334

Lecithin retinol acyltransferase contains cysteine residues essential for catalysis. PubMed ID: 10819989

Identification of novel mutations in patients with Leber congenital amaurosis and juvenile RP by genome-wide homozygosity mapping with SNP microarrays. PubMed ID: 18055821

Lecithin: retinol acyltransferase protein is distributed in both hepatic stellate cells and endothelial cells of normal rodent and human liver. PubMed ID: 18544127

Mutations in the gene encoding lecithin retinol acyltransferase are associated with early-onset severe retinal dystrophy. PubMed ID: 11381255

Screening genes of the retinoid metabolism: novel LRAT mutation in Leber congenital amaurosis. PubMed ID: 17011878