Gene/Proteome Database (LMPD)
LMPD ID
LMP001849
Gene ID
Species
Homo sapiens (Human)
Gene Name
lecithin retinol acyltransferase (phosphatidylcholine--retinol O-acyltransferase)
Gene Symbol
Synonyms
LCA14
Alternate Names
lecithin retinol acyltransferase
Chromosome
4
Map Location
4q32.1
EC Number
2.3.1.135
Summary
The protein encoded by this gene localizes to the endoplasmic reticulum, where it catalyzes the esterification of all-trans-retinol into all-trans-retinyl ester. This reaction is an important step in vitamin A metabolism in the visual system. Mutations in this gene have been associated with early-onset severe retinal dystrophy and Leber congenital amaurosis 14. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2014]
Orthologs
Proteins
| lecithin retinol acyltransferase precursor | |
|---|---|
| Refseq ID | NP_004735 |
| Protein GI | 46249410 |
| UniProt ID | O95237 |
| mRNA ID | NM_004744 |
| Length | 230 |
| RefSeq Status | REVIEWED |
| MKNPMLEVVSLLLEKLLLISNFTLFSSGAAGEDKGRNSFYETSSFHRGDVLEVPRTHLTHYGIYLGDNRVAHMMPDILLALTDDMGRTQKVVSNKRLILGVIVKVASIRVDTVEDFAYGANILVNHLDESLQKKALLNEEVARRAEKLLGFTPYSLLWNNCEHFVTYCRYGTPISPQSDKFCETVKIIIRDQRSVLASAVLGLASIVCTGLVSYTTLPAIFIPFFLWMAG | |
| sig_peptide: 1..31 inference: COORDINATES: ab initio prediction:SignalP:4.0 calculated_mol_wt: 3337 peptide sequence: MKNPMLEVVSLLLEKLLLISNFTLFSSGAAG sig_peptide: 1..31 inference: COORDINATES: ab initio prediction:SignalP:4.0 calculated_mol_wt: 3337 peptide sequence: MKNPMLEVVSLLLEKLLLISNFTLFSSGAAG | |
| lecithin retinol acyltransferase precursor | |
|---|---|
| Refseq ID | NP_001288574 |
| Protein GI | 675022749 |
| UniProt ID | O95237 |
| mRNA ID | NM_001301645 |
| Length | 230 |
| RefSeq Status | REVIEWED |
| Protein sequence is identical to GI:46249410 (mRNA isoform) | |
Gene Information
Entrez Gene ID
Gene Name
lecithin retinol acyltransferase (phosphatidylcholine--retinol O-acyltransferase)
Gene Symbol
Species
Homo sapiens
Gene Ontology (GO Annotations)
| GO ID | Source | Type | Description |
|---|---|---|---|
| GO:0005789 | TAS:Reactome | C | endoplasmic reticulum membrane |
| GO:0016021 | IEA:UniProtKB-KW | C | integral component of membrane |
| GO:0005771 | ISS:UniProtKB | C | multivesicular body |
| GO:0048471 | ISS:UniProtKB | C | perinuclear region of cytoplasm |
| GO:0005791 | ISS:UniProtKB | C | rough endoplasmic reticulum |
| GO:0047173 | IEA:UniProtKB-EC | F | phosphatidylcholine-retinol O-acyltransferase activity |
| GO:0001972 | IEA:Ensembl | F | retinoic acid binding |
| GO:0019841 | IEA:Ensembl | F | retinol binding |
| GO:0016746 | TAS:ProtInc | F | transferase activity, transferring acyl groups |
| GO:0007603 | TAS:Reactome | P | phototransduction, visible light |
| GO:0042573 | IEA:Ensembl | P | retinoic acid metabolic process |
| GO:0001523 | TAS:Reactome | P | retinoid metabolic process |
| GO:0042572 | IEA:UniProtKB-UniPathway | P | retinol metabolic process |
| GO:0007601 | IEA:UniProtKB-KW | P | visual perception |
| GO:0006776 | IEA:Ensembl | P | vitamin A metabolic process |
KEGG Pathway Links
REACTOME Pathway Links
| REACTOME Pathway ID | Description |
|---|---|
| REACT_24968 | Retinoid metabolism and transport |
Domain Information
InterPro Annotations
| Accession | Description |
|---|---|
| IPR007053 | LRAT-like domain |
UniProt Annotations
Entry Information
Gene Name
lecithin retinol acyltransferase (phosphatidylcholine--retinol O-acyltransferase)
Protein Entry
O95237_HUMAN
UniProt ID
Species
Human
Comments
| Comment Type | Description |
|---|---|
| Catalytic Activity | Phosphatidylcholine + retinol--[cellular- retinol-binding-protein] = 2-acylglycerophosphocholine + retinyl- ester--[cellular-retinol-binding-protein]. |
| Disease | Leber congenital amaurosis 14 (LCA14) [MIM |
| Enzyme Regulation | Inhibited by all-trans-retinyl alpha- bromoacetate and N-boc-L-biocytinyl-11-aminoundecane chloro-methyl ketone (BACMK). |
| Function | Transfers the acyl group from the sn-1 position of phosphatidylcholine to all-trans retinol, producing all-trans retinyl esters. Retinyl esters are storage forms of vitamin A. LRAT plays a critical role in vision. It provides the all-trans retinyl ester substrates for the isomerohydrolase which processes the esters into 11-cis-retinol in the retinal pigment epithelium; due to a membrane-associated alcohol dehydrogenase, 11 cis-retinol is oxidized and converted into 11-cis-retinaldehyde which is the chromophore for rhodopsin and the cone photopigments. |
| Induction | LRAT activity is up-regulated by dietary vitamin A. Under conditions of vitamin A depletion, LRAT expression in the liver is induced by retinoic acid (By similarity). |
| Pathway | Cofactor metabolism; retinol metabolism. |
| Similarity | Belongs to the H-rev107 family. |
| Subcellular Location | Endoplasmic reticulum membrane {ECO |
| Tissue Specificity | Hepatic stellate cells and endothelial cells (at protein level). Found at high levels in testis and liver, followed by retinal pigment epithelium, small intestine, prostate, pancreas and colon. Low expression observed in brain. In fetal tissues, expressed in retinal pigment epithelium and liver, and barely in the brain. {ECO |
Identical and Related Proteins
Unique RefSeq proteins for LMP001849 (as displayed in Record Overview)
| Protein GI | Database | Accession | Length | Protein Name |
|---|---|---|---|---|
| 46249410 | RefSeq | NP_004735 | 230 | lecithin retinol acyltransferase precursor |
Identical Sequences to LMP001849 proteins
| Reference | Database | Accession | Length | Protein Name |
|---|---|---|---|---|
| GI:46249410 | GenBank | AHD70974.1 | 230 | Sequence 4442 from patent US 8586006 |
| GI:46249410 | GenBank | AIC50304.1 | 230 | LRAT, partial [synthetic construct] |
| GI:46249410 | RefSeq | XP_004040583.1 | 230 | PREDICTED: lecithin retinol acyltransferase isoform 1 [Gorilla gorilla gorilla] |
| GI:46249410 | RefSeq | XP_004040584.1 | 230 | PREDICTED: lecithin retinol acyltransferase isoform 2 [Gorilla gorilla gorilla] |
| GI:46249410 | RefSeq | XP_006714475.1 | 230 | PREDICTED: lecithin retinol acyltransferase isoform X1 [Homo sapiens] |
| GI:46249410 | RefSeq | NP_001288574.1 | 230 | lecithin retinol acyltransferase precursor [Homo sapiens] |
Related Sequences to LMP001849 proteins
| Reference | Database | Accession | Length | Protein Name |
|---|---|---|---|---|
| GI:46249410 | GenBank | AAD13529.1 | 230 | lecithin retinol acyltransferase [Homo sapiens] |
| GI:46249410 | GenBank | EHH26259.1 | 230 | hypothetical protein EGK_16178 [Macaca mulatta] |
| GI:46249410 | GenBank | EHH54028.1 | 230 | hypothetical protein EGM_14764 [Macaca fascicularis] |
| GI:46249410 | RefSeq | NP_001180868.1 | 230 | lecithin retinol acyltransferase precursor [Macaca mulatta] |
| GI:46249410 | RefSeq | XP_003257914.1 | 230 | PREDICTED: lecithin retinol acyltransferase [Nomascus leucogenys] |
| GI:46249410 | RefSeq | XP_007998249.1 | 230 | PREDICTED: lecithin retinol acyltransferase [Chlorocebus sabaeus] |