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RPE65 (RPE65, retinoid isomerohydrolase)

Identity

Alias_namesRP20
retinal pigment epithelium-specific protein 65kDa
Alias_symbol (synonym)LCA2
rd12
BCO3
Other aliasmRPE65
sRPE65
HGNC (Hugo) RPE65
LocusID (NCBI) 6121
Atlas_Id 72778
Location 1p31.3  [Link to chromosome band 1p31]
Location_base_pair Starts at 68428824 and ends at 68449959 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
CLIC6 (21q22.12) / RPE65 (1p31.3)

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 


External links

Nomenclature
HGNC (Hugo)RPE65   10294
Cards
Entrez_Gene (NCBI)RPE65  6121  RPE65, retinoid isomerohydrolase
AliasesBCO3; LCA2; RP20; mRPE65; 
rd12; sRPE65
GeneCards (Weizmann)RPE65
Ensembl hg19 (Hinxton)ENSG00000116745 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000116745 [Gene_View]  chr1:68428824-68449959 [Contig_View]  RPE65 [Vega]
ICGC DataPortalENSG00000116745
TCGA cBioPortalRPE65
AceView (NCBI)RPE65
Genatlas (Paris)RPE65
WikiGenes6121
SOURCE (Princeton)RPE65
Genetics Home Reference (NIH)RPE65
Genomic and cartography
GoldenPath hg38 (UCSC)RPE65  -     chr1:68428824-68449959 -  1p31.3   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)RPE65  -     1p31.3   [Description]    (hg19-Feb_2009)
EnsemblRPE65 - 1p31.3 [CytoView hg19]  RPE65 - 1p31.3 [CytoView hg38]
Mapping of homologs : NCBIRPE65 [Mapview hg19]  RPE65 [Mapview hg38]
OMIM180069   204100   613794   
Gene and transcription
Genbank (Entrez)AK289925 BC075035 BC075036 U18991
RefSeq transcript (Entrez)NM_000329
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)RPE65
Cluster EST : UnigeneHs.2133 [ NCBI ]
CGAP (NCI)Hs.2133
Alternative Splicing GalleryENSG00000116745
Gene ExpressionRPE65 [ NCBI-GEO ]   RPE65 [ EBI - ARRAY_EXPRESS ]   RPE65 [ SEEK ]   RPE65 [ MEM ]
Gene Expression Viewer (FireBrowse)RPE65 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)6121
GTEX Portal (Tissue expression)RPE65
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ16518   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ16518  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ16518
Splice isoforms : SwissVarQ16518
Catalytic activity : Enzyme3.1.1.64 [ Enzyme-Expasy ]   3.1.1.643.1.1.64 [ IntEnz-EBI ]   3.1.1.64 [ BRENDA ]   3.1.1.64 [ KEGG ]   
PhosPhoSitePlusQ16518
Domains : Interpro (EBI)Carotenoid_Oase   
Domain families : Pfam (Sanger)RPE65 (PF03055)   
Domain families : Pfam (NCBI)pfam03055   
Conserved Domain (NCBI)RPE65
DMDM Disease mutations6121
Blocks (Seattle)RPE65
SuperfamilyQ16518
Human Protein AtlasENSG00000116745
Peptide AtlasQ16518
HPRD01569
IPIIPI00029250   
Protein Interaction databases
DIP (DOE-UCLA)Q16518
IntAct (EBI)Q16518
FunCoupENSG00000116745
BioGRIDRPE65
STRING (EMBL)RPE65
ZODIACRPE65
Ontologies - Pathways
QuickGOQ16518
Ontology : AmiGOretinoid metabolic process  phosphatidylserine binding  retina homeostasis  neural retina development  retinal isomerase activity  endoplasmic reticulum  plasma membrane  vitamin A metabolic process  regulation of rhodopsin gene expression  visual perception  circadian rhythm  insulin receptor signaling pathway  membrane  oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen  organelle membrane  phosphatidylcholine binding  retinol metabolic process  retinal metabolic process  cell body  metal ion binding  detection of light stimulus involved in visual perception  all-trans-retinyl-palmitate hydrolase, 11-cis retinol forming activity  all-trans-retinyl-ester hydrolase, 11-cis retinol forming activity  oxidation-reduction process  retina morphogenesis in camera-type eye  cellular response to electrical stimulus  cardiolipin binding  
Ontology : EGO-EBIretinoid metabolic process  phosphatidylserine binding  retina homeostasis  neural retina development  retinal isomerase activity  endoplasmic reticulum  plasma membrane  vitamin A metabolic process  regulation of rhodopsin gene expression  visual perception  circadian rhythm  insulin receptor signaling pathway  membrane  oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen  organelle membrane  phosphatidylcholine binding  retinol metabolic process  retinal metabolic process  cell body  metal ion binding  detection of light stimulus involved in visual perception  all-trans-retinyl-palmitate hydrolase, 11-cis retinol forming activity  all-trans-retinyl-ester hydrolase, 11-cis retinol forming activity  oxidation-reduction process  retina morphogenesis in camera-type eye  cellular response to electrical stimulus  cardiolipin binding  
Pathways : KEGGRetinol metabolism   
NDEx NetworkRPE65
Atlas of Cancer Signalling NetworkRPE65
Wikipedia pathwaysRPE65
Orthology - Evolution
OrthoDB6121
GeneTree (enSembl)ENSG00000116745
Phylogenetic Trees/Animal Genes : TreeFamRPE65
HOVERGENQ16518
HOGENOMQ16518
Homologs : HomoloGeneRPE65
Homology/Alignments : Family Browser (UCSC)RPE65
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerRPE65 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)RPE65
dbVarRPE65
ClinVarRPE65
1000_GenomesRPE65 
Exome Variant ServerRPE65
ExAC (Exome Aggregation Consortium)RPE65 (select the gene name)
Genetic variants : HAPMAP6121
Genomic Variants (DGV)RPE65 [DGVbeta]
DECIPHERRPE65 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisRPE65 
Mutations
ICGC Data PortalRPE65 
TCGA Data PortalRPE65 
Broad Tumor PortalRPE65
OASIS PortalRPE65 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICRPE65  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDRPE65
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
LOVD (Leiden Open Variation Database)Eye diseases - LOVD
LOVD (Leiden Open Variation Database)MSeqDR-LSDB Mitochondrial Disease Locus Specific Database
BioMutasearch RPE65
DgiDB (Drug Gene Interaction Database)RPE65
DoCM (Curated mutations)RPE65 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)RPE65 (select a term)
intoGenRPE65
Cancer3DRPE65(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM180069    204100    613794   
Orphanet659    3243    22365   
MedgenRPE65
Genetic Testing Registry RPE65
NextProtQ16518 [Medical]
TSGene6121
GENETestsRPE65
Target ValidationRPE65
Huge Navigator RPE65 [HugePedia]
snp3D : Map Gene to Disease6121
BioCentury BCIQRPE65
ClinGenRPE65
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD6121
Chemical/Pharm GKB GenePA34655
Clinical trialRPE65
Miscellaneous
canSAR (ICR)RPE65 (select the gene name)
Probes
Litterature
PubMed78 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineRPE65
EVEXRPE65
GoPubMedRPE65
iHOPRPE65
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Wed May 31 15:39:10 CEST 2017

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