GenTIGS

Retinoid isomerohydrolase RPE65 (RPE65) Associated conditions: 1. 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_000329.3	NP_000320.1	NC_000001.11	(68428821..68449953, complement)	Reference GRCh38.p14 Primary Assembly	Q16518
2	REVIEWED	NM_001406853.1	NP_001393782.1	NC_000001.11	(68428821..68449953, complement)	Reference GRCh38.p14 Primary Assembly	Q16518
3	REVIEWED	NM_001406856.1	NP_001393785.1	NC_000001.11	(68428821..68449953, complement)	Reference GRCh38.p14 Primary Assembly	Q16518
4	REVIEWED	NM_001406857.1	NP_001393786.1	NC_000001.11	(68428821..68449953, complement)	Reference GRCh38.p14 Primary Assembly	Q16518
5	REVIEWED	NM_001406859.1	NP_001393788.1	NC_000001.11	(68428821..68449953, complement)	Reference GRCh38.p14 Primary Assembly	Q16518
6	REVIEWED	NM_001406860.1	NP_001393789.1	NC_000001.11	(68428821..68449953, complement)	Reference GRCh38.p14 Primary Assembly	Q16518

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 1132 reference articles

Variant Information Retinoid isomerohydrolase RPE65 (RPE65) Mutation Visualization Dashboard: Pathogenic variant distribution chart

IndiGenomes variants: Exploring and mapping pathogenic variants in gene Retinoid isomerohydrolase RPE65 (RPE65)

ClinVar variants:Revealing mutagenic patterns

GO Term of Retinoid isomerohydrolase RPE65 (RPE65)

SNo.	Reported in speceis	Evidence	Qualifier	GO term	Category	Pubmed Link
1	Homo sapiens	IDA	involved_in	retinoid metabolic process	Process	25112876
2	Homo sapiens	TAS	involved_in	retinoid metabolic process	Process	-
3	Homo sapiens	ISS	enables	phosphatidylserine binding	Function	-
4	Homo sapiens	IMP	involved_in	retina homeostasis	Process	15557452
5	Homo sapiens	IEA	involved_in	neural retina development	Process	-
6	Homo sapiens	IBA	enables	beta-carotene 15,15'-dioxygenase activity	Function	21873635
7	Homo sapiens	IEA	located_in	nucleus	Component	-
8	Homo sapiens	IDA	located_in	endoplasmic reticulum membrane	Component	29659842
9	Homo sapiens	TAS	located_in	plasma membrane	Component	-
10	Homo sapiens	TAS	involved_in	vitamin A metabolic process	Process	9326941
11	Homo sapiens	TAS	involved_in	visual perception	Process	9326941
12	Homo sapiens	IEA	involved_in	circadian rhythm	Process	-
13	Homo sapiens	IEA	involved_in	insulin receptor signaling pathway	Process	-
14	Homo sapiens	IEA	involved_in	regulation of gene expression	Process	-
15	Homo sapiens	ISS	located_in	membrane	Component	-
16	Homo sapiens	IDA	enables	isomerase activity	Function	28874556
17	Homo sapiens	ISS	enables	phosphatidylcholine binding	Function	-
18	Homo sapiens	IEA	involved_in	retinol metabolic process	Process	-
19	Homo sapiens	IBA	involved_in	retinal metabolic process	Process	21873635
20	Homo sapiens	IEA	located_in	cell body	Component	-
21	Homo sapiens	IEA	enables	metal ion binding	Function	-
22	Homo sapiens	IBA	enables	retinol isomerase activity	Function	21873635
23	Homo sapiens	IMP	involved_in	detection of light stimulus involved in visual perception	Process	15557452
24	Homo sapiens	IDA	enables	all-trans-retinyl-palmitate hydrolase, 11-cis retinol forming activity	Function	25112876
25	Homo sapiens	TAS	enables	all-trans-retinyl-palmitate hydrolase, 11-cis retinol forming activity	Function	-
26	Homo sapiens	IBA	enables	all-trans-retinyl-ester hydrolase, 11-cis retinol forming activity	Function	21873635
27	Homo sapiens	ISS	enables	all-trans-retinyl-ester hydrolase, 11-cis retinol forming activity	Function	-
28	Homo sapiens	IEA	involved_in	retina morphogenesis in camera-type eye	Process	-
29	Homo sapiens	IEA	involved_in	cellular response to electrical stimulus	Process	-
30	Homo sapiens	ISS	enables	cardiolipin binding	Function	-
31	Homo sapiens	IBA	involved_in	zeaxanthin biosynthetic process	Process	21873635
32	Homo sapiens	IDA	involved_in	zeaxanthin biosynthetic process	Process	28874556