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Cancer Genome Characterization Initiative

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Gene Info

Gene Information For:Hs. RPE65, retinal pigment epithelium-specific protein 65kDa
Sequence ID:NM_000329
RefSeqGene ID:NG_008472
Entrez Gene ID:6121
Ensembl ID:ENSG00000116745

Database Links

UniGeneEntrez GeneOMIMEnsembl GeneHPRDVegaSNPSNP: GeneViewSNP: VarViewAssembliesRNAi

Gene Expression Data


Associated Diseases (from OMIM)

DiseaseOther Genes
LEBER CONGENITAL AMAUROSIS 2 
RETINITIS PIGMENTOSA 20 

Cytogenetic Location (from UniGene)

Cytogenetic Location:1p31Mitelman Breakpoint Data

Chromosomal Position (from UCSC)

Chromosomal Position:1: 68895077 - 68915632

 Exon Info From UCSC:
NM_000329

Full-Length MGC Clones for This Gene

IMAGE IdStatusAccession GenBank Def Line
30915421Full LengthBC075036retinal pigment epithelium-specific protein 65kDa
30915627Full LengthBC075035retinal pigment epithelium-specific protein 65kDa

Protein Similarities Based on Shared Motif Content

Find gene products sharing protein motifs with:  NP_000320  

Protein Infomation

RefSeq
mRNAProteinSwissProtEnzymePfam
NM_000329 NP_000320 Q16518 EC 3.1.1.64 RPE65

Related Sequences

 
mRNAGenPeptSwissProtEnzyme
U18991 AAA99012 Q16518 EC 3.1.1.64
BC075035 AAH75035 Q16518 EC 3.1.1.64
BC075036 AAH75036 Q16518 EC 3.1.1.64
AK289925 BAF82614 A8K1L0  

Homologs (from HomoloGene)
Note: Both orthologs and paralogs are included.
Organism Symbol Protein Homolog Similarity
(% aa unchanged)
Organism Symbol Entrez
Gene
Gene Info Protein
H.sapiens RPE65 NP_000320 M.musculus Rpe65 19892 Gene Info NP_084263 94
R.norvegicus LOC100361609 100361609   XP_002729175 92
A.gambiae AgaP_AGAP008143 1277817   XP_317319 40
D.melanogaster ninaB 41678   NP_650307 40

Gene Ontology
Gene classification by the European Bioinformatics Institute, as recorded in GOA (GO Annotation@EBI)