Selected-GenAtlas references | SOURCE | GeneCards | NCBI Gene | Swiss-Prot | Orphanet | Ensembl |
HGNC | UniGene | Nucleotide | OMIM | UCSC |
Home Page |
FLASH GENE |
Symbol | LRAT | contributors: mct - updated : 02-01-2012 |
HGNC name | lecithin retinol acyltransferase (phosphatidylcholine--retinol O-acyltransferase) |
HGNC id | 6685 |
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Corresponding disease |
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Location | 4q32.1 Physical location : 155.665.162 - 155.674.270 | ||
Synonym name | phosphatidylcholine-retinol O-acyltransferase | ||
Synonym symbol(s) | MGC33103, LCA14 | ||
EC.number | 2.3.1.135 |
DNA |
TYPE | functioning gene |
STRUCTURE | 9.11 kb 3 Exon(s) |
10 Kb 5' upstream gene genomic sequence study |
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regulatory sequence | Promoter (CAAT box) (TATA box) |
Binding site | |
text structure | a TATA box, CCAAT box and Sp1 site, which are apparently conserved in mouse and rat |
MAPPING | cloned | Y | linked | N | status | provisional |
RNA |
TRANSCRIPTS | type | messenger |
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EXPRESSION |
Type | restricted |
tissue |
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cells |
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cell lineage
cell lines
| fluid/secretion
| |
at STAGE |
physiological period | fetal |
Text | RPE, liver, slightly in brain |
PROTEIN |
PHYSICAL PROPERTIES
STRUCTURE
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motifs/domains
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HOMOLOGY |
Homologene |
FAMILY |
CATEGORY | enzyme |
SUBCELLULAR LOCALIZATION | plasma membrane |
intracellular | |
intracellular,cytoplasm,organelle,membrane | |
intracellular,cytoplasm,organelle,endoplasmic reticulum | |
intracellular,cytoplasm,organelle,endosome |
basic FUNCTION | |
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CELLULAR PROCESS |
PHYSIOLOGICAL PROCESS | development |
PATHWAY |
metabolism | vitamin |
signaling | sensory transduction/vision |
vitamin A |
a component |
INTERACTION |
DNA |
RNA |
small molecule |
protein |
cell & other |
REGULATION |
Other | transcriptional regulation by all-trans-retinoic acid (RA) and other retinoids |
ASSOCIATED DISORDERS |
corresponding disease(s) | RDSE |
Susceptibility |
Variant & Polymorphism
| |
Candidate gene
Marker
| Therapy target
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ANIMAL & CELL MODELS |
8722;/& | |
8722; mouse, rod opsin traffics normally to ROS, whereas cone opsins accumulated in inner regions of cones | |
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