GenTIGS

Lecithin retinol acyltransferase (LRAT) Associated conditions: 1. Retinitis pigmentosa 2. Leber congenital amaurosis

mRNA Information: Transcript Variants and Protein Isoforms

SNo.	Status	mRNA accession	Protein accession	Genomic DNA accession (Chromosome)	mRNA location on genomic DNA	Assembly	UniProtkb ID
1	REVIEWED	NM_001301645.2	NP_001288574.1	NC_000004.12	(154740837..154753119)	Reference GRCh38.p14 Primary Assembly	-
2	REVIEWED	NM_004744.5	NP_004735.2	NC_000004.12	(154740837..154753119)	Reference GRCh38.p14 Primary Assembly	-

Transcript variants arise from alternative splicing during gene expression, producing multiple mRNA transcripts from a single gene, each encoding distinct protein isoforms.

PubMed Links for Transcript Variants (Isoforms)

Link 156 reference articles

Variant Information Lecithin retinol acyltransferase (LRAT) Mutation Visualization Dashboard: Pathogenic variant distribution chart

ClinVar variants:Revealing mutagenic patterns

GO Term of Lecithin retinol acyltransferase (LRAT)

SNo.	Reported in speceis	Evidence	Qualifier	GO term	Category	Pubmed Link
1	Homo sapiens	IEA	involved_in	retinoid metabolic process	Process	-
2	Homo sapiens	TAS	involved_in	retinoid metabolic process	Process	-
3	Homo sapiens	IEA	enables	retinoic acid binding	Function	-
4	Homo sapiens	IPI	enables	protein binding	Function	32296183
5	Homo sapiens	IEA	located_in	multivesicular body	Component	-
6	Homo sapiens	ISS	located_in	multivesicular body	Component	-
7	Homo sapiens	IEA	located_in	endoplasmic reticulum	Component	-
8	Homo sapiens	ISS	located_in	endoplasmic reticulum	Component	-
9	Homo sapiens	IEA	located_in	endoplasmic reticulum membrane	Component	-
10	Homo sapiens	TAS	located_in	endoplasmic reticulum membrane	Component	-
11	Homo sapiens	IBA	is_active_in	rough endoplasmic reticulum	Component	-
12	Homo sapiens	IEA	located_in	rough endoplasmic reticulum	Component	-
13	Homo sapiens	ISS	located_in	rough endoplasmic reticulum	Component	-
14	Homo sapiens	IEA	involved_in	lipid metabolic process	Process	-
15	Homo sapiens	IBA	involved_in	vitamin A metabolic process	Process	-
16	Homo sapiens	ISS	involved_in	vitamin A metabolic process	Process	-
17	Homo sapiens	IEA	involved_in	visual perception	Process	-
18	Homo sapiens	IEA	enables	O-acyltransferase activity	Function	-
19	Homo sapiens	IEA	enables	O-palmitoyltransferase activity	Function	-
20	Homo sapiens	TAS	enables	O-palmitoyltransferase activity	Function	-
21	Homo sapiens	IEA	enables	transferase activity	Function	-
22	Homo sapiens	IEA	enables	acyltransferase activity	Function	-
23	Homo sapiens	TAS	enables	acyltransferase activity	Function	9920938
24	Homo sapiens	IEA	enables	retinol binding	Function	-
25	Homo sapiens	IEA	involved_in	lipid storage	Process	-
26	Homo sapiens	IEA	involved_in	response to retinoic acid	Process	-
27	Homo sapiens	IEA	involved_in	response to vitamin A	Process	-
28	Homo sapiens	IBA	involved_in	retinol metabolic process	Process	-
29	Homo sapiens	IDA	involved_in	retinol metabolic process	Process	10819989
30	Homo sapiens	IEA	involved_in	retinol metabolic process	Process	-
31	Homo sapiens	IBA	enables	phosphatidylcholine-retinol O-acyltransferase activity	Function	-
32	Homo sapiens	IDA	enables	phosphatidylcholine-retinol O-acyltransferase activity	Function	10819989
33	Homo sapiens	IEA	enables	phosphatidylcholine-retinol O-acyltransferase activity	Function	-
34	Homo sapiens	TAS	enables	phosphatidylcholine-retinol O-acyltransferase activity	Function	-
35	Homo sapiens	IEA	located_in	perinuclear region of cytoplasm	Component	-
36	Homo sapiens	ISS	located_in	perinuclear region of cytoplasm	Component	-