InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Gene: LRAT

Summary

InnateDB Gene

IDBG-42230.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

LRAT

Gene Name

lecithin retinol acyltransferase (phosphatidylcholine--retinol O-acyltransferase)

Synonyms

LCA14

Species

Homo sapiens

Ensembl Gene

ENSG00000121207

Encoded Proteins

IDBP-42232

lecithin retinol acyltransferase (phosphatidylcholine--retinol O-acyltransferase)

IDBP-477192

lecithin retinol acyltransferase (phosphatidylcholine--retinol O-acyltransferase)

IDBP-476465

lecithin retinol acyltransferase (phosphatidylcholine--retinol O-acyltransferase)

Protein Structure

Useful resources

Stemformatics EHFPI ImmGen

Entrez Gene

Summary

The protein encoded by this gene is a microsomal enzyme that catalyzes the esterification of all-trans-retinol into all-trans-retinyl ester, an essential reaction for the retinoid cycle in visual system and vitamin A status in liver. Mutations in this gene have been associated with early-onset severe retinal dystrophy. [provided by RefSeq, Jul 2008]
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]

Gene Information

Type

Protein coding

Genomic Location

Chromosome 4:154626945-154753118

Strand

Forward strand

Band

q32.1

Transcripts

ENST00000336356	ENSP00000337224
ENST00000500890
ENST00000502525	ENSP00000422324
ENST00000499392
ENST00000507827	ENSP00000426761
ENST00000510733
ENST00000502474
ENST00000510919

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 1 experimentally validated interaction(s) in this database.

Experimentally validated
Total	1 [view]
Protein-Protein	1 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Gene Ontology

Molecular Function

Accession	GO Term
GO:0001972	retinoic acid binding
GO:0008374	O-acyltransferase activity
GO:0016746	transferase activity, transferring acyl groups
GO:0019841	retinol binding
GO:0047173	phosphatidylcholine-retinol O-acyltransferase activity

Biological Process

GO:0001523	retinoid metabolic process
GO:0006776	vitamin A metabolic process
GO:0007601	visual perception
GO:0007603	phototransduction, visible light
GO:0042572	retinol metabolic process
GO:0042573	retinoic acid metabolic process

Cellular Component

GO:0005771	multivesicular body
GO:0005789	endoplasmic reticulum membrane
GO:0005791	rough endoplasmic reticulum
GO:0016021	integral component of membrane
GO:0043231	intracellular membrane-bounded organelle
GO:0048471	perinuclear region of cytoplasm

Orthologs

Species

Mus musculus

Bos taurus

Gene ID

Gene Order

ENSMUSG00000028003

View Gene Order

ENSBTAG00000017167

Not yet available

Pathways

NETPATH

REACTOME

REACT_160156

The canonical retinoid cycle in rods (twilight vision) pathway

REACT_24968

Retinoid metabolism and transport pathway

REACT_111102

Signal Transduction pathway

REACT_160102

Diseases associated with visual transduction pathway

REACT_160125

Visual phototransduction pathway

REACT_116125

Disease pathway

KEGG

hsa00830

Retinol metabolism pathway

INOH

PID NCI

cone_pathway

Visual signal transduction: Cones

rhodopsin_pathway

Visual signal transduction: Rods

Cross-References

SwissProt

TrEMBL

UniProt Splice Variant

Entrez Gene

UniGene

Hs.621689 Hs.658427 Hs.736130

RefSeq

NM_004744 XM_006714412

HUGO

OMIM

CCDS

CCDS3789

HPRD

05332

IMGT

EMBL

GenPept

RNA Seq Atlas