Gene

rpe65b

ID

ZDB-GENE-050410-16

Name

retinoid isomerohydrolase RPE65 b

Symbol

rpe65b Nomenclature History

Previous Names

rpepb (1)
13cIMH (1)
si:ch211-198n5.5
wu:fc74c09
zgc:110538

Type

protein_coding_gene

Location

Chr: 8 Mapping Details/Browsers

Description

Predicted to have all-trans-retinyl-ester hydrolase, 11-cis retinol forming activity; retinal isomerase activity; and retinol isomerase activity. Predicted to be involved in retinal metabolic process and zeaxanthin biosynthetic process. Predicted to localize to endoplasmic reticulum membrane. Human ortholog(s) of this gene implicated in Leber congenital amaurosis 2; retinitis pigmentosa; and retinitis pigmentosa 20. Is expressed in ectoderm; mandibular arch skeleton; nervous system; neural crest cell; and pectoral fin. Orthologous to human RPE65 (retinoid isomerohydrolase RPE65).

Genome Resources

Note

None

Comparative Information

Expression

All Expression Data

5 figures from 4 publications

Cross-Species Comparison

High Throughput Data

Expression Atlas

UO scRNA-seq (UCSC browser)

Single Cell Expression Atlas

Daniocell

Thisse Expression Data

No data available

Wild Type Expression Summary

Phenotype

All Phenotype Data: No data available
Cross-Species Comparison: Alliance

Phenotype Summary

Mutations

Mutants

Sequence Targeting Reagents

Human Disease

Associated With rpe65b Human Ortholog

Disease Ontology Term	Multi-Species Data	OMIM Term	OMIM Phenotype ID
Leber congenital amaurosis 2	Alliance	Leber congenital amaurosis 2	204100
retinitis pigmentosa 20	Alliance	Retinitis pigmentosa 20	613794
retinitis pigmentosa 87	Alliance	Retinitis pigmentosa 87 with choroidal involvement	618697

Associated With rpe65b Via Experimental Models

No data available

Gene Ontology

Protein Domains

Domain, Family, and Site Summary

Type	InterPro ID	Name
Family	IPR004294	Carotenoid oxygenase

Domain Details Per Protein

Protein	Length	Carotenoid oxygenase
UniProtKB:A9C3R9 InterPro	532
UniProtKB:A0A8M9QID4 InterPro	333

Transcripts

Genome Browsers

Type	Name	Annotation Method	Has Havana Data	Length (nt)	Analysis
mRNA	rpe65b-201 (1) Ensembl	Ensembl		1,945 nt	Select Tool
mRNA	rpe65b-202 (1) Ensembl	Ensembl		1,599 nt	Select Tool ZFIN BLAST

Interactions and Pathways

No data available

Antibodies

No data available

Plasmids

No data available

Constructs

Marker Relationships

Sequences

Orthology

Comparative Orthology: Alliance
Gene Tree: Ensembl

Citations