Details for: RPE65
Associated with
Cells (max top 100)
(Cell Significance Index and respective Thresholds are uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)
- Cell Name: ciliated cell of the bronchus (CL0002332)
Fold Change: 2.4090
Cell Significance Index: -2.3000 - Cell Name: precursor B cell (CL0000817)
Fold Change: 1.6546
Cell Significance Index: 21.4100 - Cell Name: eye photoreceptor cell (CL0000287)
Fold Change: 1.3482
Cell Significance Index: 84.9700 - Cell Name: megakaryocyte-erythroid progenitor cell (CL0000050)
Fold Change: 0.9232
Cell Significance Index: 12.6600 - Cell Name: retinal rod cell (CL0000604)
Fold Change: 0.6048
Cell Significance Index: 7.2100 - Cell Name: medial ganglionic eminence derived interneuron (CL4023063)
Fold Change: 0.5876
Cell Significance Index: 8.4200 - Cell Name: photoreceptor cell (CL0000210)
Fold Change: 0.3952
Cell Significance Index: 5.5500 - Cell Name: retinal pigment epithelial cell (CL0002586)
Fold Change: 0.1460
Cell Significance Index: 1.5700 - Cell Name: enteric smooth muscle cell (CL0002504)
Fold Change: 0.0803
Cell Significance Index: 0.4200 - Cell Name: lens fiber cell (CL0011004)
Fold Change: 0.0387
Cell Significance Index: 1.2300 - Cell Name: cardiac endothelial cell (CL0010008)
Fold Change: 0.0146
Cell Significance Index: 0.2100 - Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
Fold Change: 0.0143
Cell Significance Index: 1.4900 - Cell Name: CD14-low, CD16-positive monocyte (CL0002396)
Fold Change: 0.0074
Cell Significance Index: 0.1800 - Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
Fold Change: 0.0070
Cell Significance Index: 2.5200 - Cell Name: pigmented epithelial cell (CL0000529)
Fold Change: 0.0044
Cell Significance Index: 8.2500 - Cell Name: secondary lens fiber (CL0002225)
Fold Change: 0.0009
Cell Significance Index: 1.2200 - Cell Name: anterior lens cell (CL0002223)
Fold Change: 0.0000
Cell Significance Index: 0.0400 - Cell Name: lens epithelial cell (CL0002224)
Fold Change: -0.0005
Cell Significance Index: -0.7500 - Cell Name: type B pancreatic cell (CL0000169)
Fold Change: -0.0014
Cell Significance Index: -0.7900 - Cell Name: cell in vitro (CL0001034)
Fold Change: -0.0027
Cell Significance Index: -1.4900 - Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
Fold Change: -0.0030
Cell Significance Index: -1.8800 - Cell Name: pancreatic A cell (CL0000171)
Fold Change: -0.0030
Cell Significance Index: -2.2100 - Cell Name: ciliary muscle cell (CL1000443)
Fold Change: -0.0036
Cell Significance Index: -1.6300 - Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
Fold Change: -0.0042
Cell Significance Index: -0.8400 - Cell Name: retinal blood vessel endothelial cell (CL0002585)
Fold Change: -0.0062
Cell Significance Index: -0.0800 - Cell Name: dopaminergic neuron (CL0000700)
Fold Change: -0.0066
Cell Significance Index: -1.9100 - Cell Name: pigmented ciliary epithelial cell (CL0002303)
Fold Change: -0.0085
Cell Significance Index: -1.2300 - Cell Name: neoplastic cell (CL0001063)
Fold Change: -0.0099
Cell Significance Index: -1.9700 - Cell Name: pancreatic acinar cell (CL0002064)
Fold Change: -0.0101
Cell Significance Index: -1.7200 - Cell Name: stromal cell of ovary (CL0002132)
Fold Change: -0.0124
Cell Significance Index: -1.7000 - Cell Name: mature NK T cell (CL0000814)
Fold Change: -0.0124
Cell Significance Index: -0.1400 - Cell Name: epithelial cell of stomach (CL0002178)
Fold Change: -0.0152
Cell Significance Index: -1.7700 - Cell Name: lactocyte (CL0002325)
Fold Change: -0.0166
Cell Significance Index: -2.1400 - Cell Name: skeletal muscle fiber (CL0008002)
Fold Change: -0.0166
Cell Significance Index: -0.4300 - Cell Name: pancreatic ductal cell (CL0002079)
Fold Change: -0.0170
Cell Significance Index: -1.9500 - Cell Name: obsolete epithelial cell of alveolus of lung (CL0010003)
Fold Change: -0.0192
Cell Significance Index: -0.4800 - Cell Name: abnormal cell (CL0001061)
Fold Change: -0.0209
Cell Significance Index: -2.1300 - Cell Name: glycinergic neuron (CL1001509)
Fold Change: -0.0213
Cell Significance Index: -1.1200 - Cell Name: forebrain neuroblast (CL1000042)
Fold Change: -0.0225
Cell Significance Index: -1.3800 - Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
Fold Change: -0.0253
Cell Significance Index: -0.7100 - Cell Name: myometrial cell (CL0002366)
Fold Change: -0.0278
Cell Significance Index: -0.3200 - Cell Name: acinar cell of salivary gland (CL0002623)
Fold Change: -0.0287
Cell Significance Index: -1.3400 - Cell Name: megakaryocyte (CL0000556)
Fold Change: -0.0290
Cell Significance Index: -0.4700 - Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
Fold Change: -0.0316
Cell Significance Index: -2.3600 - Cell Name: cardiac muscle myoblast (CL0000513)
Fold Change: -0.0336
Cell Significance Index: -2.5800 - Cell Name: keratocyte (CL0002363)
Fold Change: -0.0340
Cell Significance Index: -0.5400 - Cell Name: hippocampal granule cell (CL0001033)
Fold Change: -0.0344
Cell Significance Index: -2.3100 - Cell Name: plasmacytoid dendritic cell (CL0000784)
Fold Change: -0.0347
Cell Significance Index: -0.4600 - Cell Name: retinal cone cell (CL0000573)
Fold Change: -0.0360
Cell Significance Index: -0.4500 - Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
Fold Change: -0.0396
Cell Significance Index: -1.2600 - Cell Name: fibro/adipogenic progenitor cell (CL0009099)
Fold Change: -0.0396
Cell Significance Index: -2.0000 - Cell Name: retinal progenitor cell (CL0002672)
Fold Change: -0.0412
Cell Significance Index: -2.3100 - Cell Name: lung endothelial cell (CL1001567)
Fold Change: -0.0436
Cell Significance Index: -2.2700 - Cell Name: basal cell of prostate epithelium (CL0002341)
Fold Change: -0.0456
Cell Significance Index: -1.2400 - Cell Name: indirect pathway medium spiny neuron (CL4023029)
Fold Change: -0.0461
Cell Significance Index: -2.0400 - Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
Fold Change: -0.0465
Cell Significance Index: -1.6300 - Cell Name: retinal bipolar neuron (CL0000748)
Fold Change: -0.0470
Cell Significance Index: -0.5700 - Cell Name: periportal region hepatocyte (CL0019026)
Fold Change: -0.0474
Cell Significance Index: -0.7000 - Cell Name: L6b glutamatergic cortical neuron (CL4023038)
Fold Change: -0.0476
Cell Significance Index: -1.5600 - Cell Name: hippocampal astrocyte (CL0002604)
Fold Change: -0.0479
Cell Significance Index: -0.6700 - Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
Fold Change: -0.0484
Cell Significance Index: -2.2800 - Cell Name: erythrocyte (CL0000232)
Fold Change: -0.0510
Cell Significance Index: -1.3000 - Cell Name: mesangial cell (CL0000650)
Fold Change: -0.0522
Cell Significance Index: -0.6600 - Cell Name: keratinocyte (CL0000312)
Fold Change: -0.0525
Cell Significance Index: -1.3100 - Cell Name: melanocyte (CL0000148)
Fold Change: -0.0544
Cell Significance Index: -0.5100 - Cell Name: astrocyte of the cerebral cortex (CL0002605)
Fold Change: -0.0544
Cell Significance Index: -0.9400 - Cell Name: early T lineage precursor (CL0002425)
Fold Change: -0.0551
Cell Significance Index: -0.8000 - Cell Name: direct pathway medium spiny neuron (CL4023026)
Fold Change: -0.0552
Cell Significance Index: -2.0900 - Cell Name: cortical cell of adrenal gland (CL0002097)
Fold Change: -0.0567
Cell Significance Index: -1.5200 - Cell Name: mesothelial cell of epicardium (CL0011019)
Fold Change: -0.0570
Cell Significance Index: -0.4900 - Cell Name: neuron associated cell (CL0000095)
Fold Change: -0.0593
Cell Significance Index: -2.4300 - Cell Name: mesenchymal cell (CL0008019)
Fold Change: -0.0603
Cell Significance Index: -1.0100 - Cell Name: glioblast (CL0000030)
Fold Change: -0.0605
Cell Significance Index: -0.3800 - Cell Name: type I muscle cell (CL0002211)
Fold Change: -0.0619
Cell Significance Index: -1.5100 - Cell Name: hematopoietic stem cell (CL0000037)
Fold Change: -0.0638
Cell Significance Index: -1.0900 - Cell Name: thymocyte (CL0000893)
Fold Change: -0.0641
Cell Significance Index: -0.8100 - Cell Name: cytotoxic T cell (CL0000910)
Fold Change: -0.0642
Cell Significance Index: -0.9400 - Cell Name: peg cell (CL4033014)
Fold Change: -0.0658
Cell Significance Index: -1.5200 - Cell Name: fibroblast of dermis (CL0002551)
Fold Change: -0.0659
Cell Significance Index: -1.3800 - Cell Name: cerebellar granule cell (CL0001031)
Fold Change: -0.0662
Cell Significance Index: -1.1300 - Cell Name: sst GABAergic cortical interneuron (CL4023017)
Fold Change: -0.0733
Cell Significance Index: -1.4500 - Cell Name: cortical interneuron (CL0008031)
Fold Change: -0.0742
Cell Significance Index: -1.7800 - Cell Name: CD4-positive, alpha-beta thymocyte (CL0000810)
Fold Change: -0.0754
Cell Significance Index: -1.3000 - Cell Name: PP cell (CL0000696)
Fold Change: -0.0757
Cell Significance Index: -0.7700 - Cell Name: astrocyte (CL0000127)
Fold Change: -0.0769
Cell Significance Index: -0.8800 - Cell Name: preadipocyte (CL0002334)
Fold Change: -0.0794
Cell Significance Index: -1.5500 - Cell Name: near-projecting glutamatergic cortical neuron (CL4023012)
Fold Change: -0.0802
Cell Significance Index: -2.0000 - Cell Name: hippocampal pyramidal neuron (CL1001571)
Fold Change: -0.0802
Cell Significance Index: -2.2900 - Cell Name: fibroblast of mammary gland (CL0002555)
Fold Change: -0.0816
Cell Significance Index: -2.3400 - Cell Name: granulosa cell (CL0000501)
Fold Change: -0.0859
Cell Significance Index: -2.2600 - Cell Name: placental villous trophoblast (CL2000060)
Fold Change: -0.0861
Cell Significance Index: -2.3000 - Cell Name: caudal ganglionic eminence derived cortical interneuron (CL4023064)
Fold Change: -0.0863
Cell Significance Index: -1.7200 - Cell Name: luminal cell of prostate epithelium (CL0002340)
Fold Change: -0.0899
Cell Significance Index: -0.9300 - Cell Name: pvalb GABAergic cortical interneuron (CL4023018)
Fold Change: -0.0900
Cell Significance Index: -1.9100 - Cell Name: squamous epithelial cell (CL0000076)
Fold Change: -0.0904
Cell Significance Index: -1.1000 - Cell Name: lamp5 GABAergic cortical interneuron (CL4023011)
Fold Change: -0.0940
Cell Significance Index: -2.0300 - Cell Name: type II muscle cell (CL0002212)
Fold Change: -0.0948
Cell Significance Index: -1.5300 - Cell Name: skeletal muscle fibroblast (CL0011027)
Fold Change: -0.0969
Cell Significance Index: -0.6600 - Cell Name: decidual cell (CL2000002)
Fold Change: -0.0975
Cell Significance Index: -1.5700 - Cell Name: corneal endothelial cell (CL0000132)
Fold Change: -0.0986
Cell Significance Index: -1.5000
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this specific cell.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.
Other Information
Genular Protein ID: 4101424718
Symbol: RPE65_HUMAN
Name: All-trans-retinyl-palmitate hydrolase
UniProtKB Accession Codes:
Database IDs:
Citations:
PubMed ID: 7633413
Title: Molecular characterization of the human gene encoding an abundant 61 kDa protein specific to the retinal pigment epithelium.
PubMed ID: 7633413
DOI: 10.1093/hmg/4.4.641
PubMed ID: 9501220
Title: Mutations in the RPE65 gene in patients with autosomal recessive retinitis pigmentosa or Leber congenital amaurosis.
PubMed ID: 9501220
PubMed ID: 14702039
Title: Complete sequencing and characterization of 21,243 full-length human cDNAs.
PubMed ID: 14702039
DOI: 10.1038/ng1285
PubMed ID: 16710414
Title: The DNA sequence and biological annotation of human chromosome 1.
PubMed ID: 16710414
DOI: 10.1038/nature04727
PubMed ID: 15489334
Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
PubMed ID: 15489334
DOI: 10.1101/gr.2596504
PubMed ID: 19049981
Title: Identification of a novel palmitylation site essential for membrane association and isomerohydrolase activity of RPE65.
PubMed ID: 19049981
PubMed ID: 16198348
Title: Identification of conserved histidines and glutamic acid as key residues for isomerohydrolase activity of RPE65, an enzyme of the visual cycle in the retinal pigment epithelium.
PubMed ID: 16198348
PubMed ID: 16116091
Title: RPE65 is the isomerohydrolase in the retinoid visual cycle.
PubMed ID: 16116091
PubMed ID: 17848510
Title: Human cone photoreceptor dependence on RPE65 isomerase.
PubMed ID: 17848510
PubMed ID: 21493626
Title: The Usher 1B protein, MYO7A, is required for normal localization and function of the visual retinoid cycle enzyme, RPE65.
PubMed ID: 21493626
DOI: 10.1093/hmg/ddr155
PubMed ID: 25112876
Title: Identification of key residues determining isomerohydrolase activity of human RPE65.
PubMed ID: 25112876
PubMed ID: 28874556
Title: RPE65 has an additional function as the lutein to meso-zeaxanthin isomerase in the vertebrate eye.
PubMed ID: 28874556
PubMed ID: 9326927
Title: Mutations in RPE65 cause Leber's congenital amaurosis.
PubMed ID: 9326927
DOI: 10.1038/ng1097-139
PubMed ID: 9326941
Title: Mutations in RPE65 cause autosomal recessive childhood-onset severe retinal dystrophy.
PubMed ID: 9326941
DOI: 10.1038/ng1097-194
PubMed ID: 9801879
Title: Autosomal recessive retinal dystrophy associated with two novel mutations in the RPE65 gene.
PubMed ID: 9801879
PubMed ID: 10090910
Title: Different functional outcome of RetGC1 and RPE65 gene mutations in Leber congenital amaurosis.
PubMed ID: 10090910
DOI: 10.1086/302335
PubMed ID: 10766140
Title: Mutation analysis of 3 genes in patients with Leber congenital amaurosis.
PubMed ID: 10766140
PubMed ID: 11095629
Title: Genetics and phenotypes of RPE65 mutations in inherited retinal degeneration.
PubMed ID: 11095629
PubMed ID: 11462243
Title: Four novel mutations in the RPE65 gene in patients with Leber congenital amaurosis.
PubMed ID: 11462243
DOI: 10.1002/humu.1168
PubMed ID: 12960219
Title: A Tyr368His RPE65 founder mutation is associated with variable expression and progression of early onset retinal dystrophy in 10 families of a genetically isolated population.
PubMed ID: 12960219
DOI: 10.1136/jmg.40.9.709
PubMed ID: 14611946
Title: Analysis of three genes in Leber congenital amaurosis in Indonesian patients.
PubMed ID: 14611946
PubMed ID: 14962443
Title: Thirty-year follow-up of a patient with Leber congenital amaurosis and novel RPE65 mutations.
PubMed ID: 14962443
PubMed ID: 15024725
Title: Leber congenital amaurosis: comprehensive survey of the genetic heterogeneity, refinement of the clinical definition, and genotype-phenotype correlations as a strategy for molecular diagnosis.
PubMed ID: 15024725
DOI: 10.1002/humu.20010
PubMed ID: 15557452
Title: A homozygosity-based search for mutations in patients with autosomal recessive retinitis pigmentosa, using microsatellite markers.
PubMed ID: 15557452
DOI: 10.1167/iovs.04-0544
PubMed ID: 16205573
Title: Evaluation of genotype-phenotype associations in Leber congenital amaurosis.
PubMed ID: 16205573
PubMed ID: 17297704
Title: Gene symbol: RPE65. Disease: Leber's congenital amaurosis. Accession #Hm0548.
PubMed ID: 17297704
PubMed ID: 17964524
Title: Leber congenital amaurosis - a model for efficient genetic testing of heterogeneous disorders: LXIV Edward Jackson Memorial Lecture.
PubMed ID: 17964524
PubMed ID: 17724218
Title: Clinical and molecular genetics of Leber's congenital amaurosis: a multicenter study of Italian patients.
PubMed ID: 17724218
DOI: 10.1167/iovs.07-0068
PubMed ID: 18682808
Title: Molecular characterization of Leber congenital amaurosis in Koreans.
PubMed ID: 18682808
PubMed ID: 19431183
PubMed ID: 21654732
Title: A dominant mutation in RPE65 identified by whole-exome sequencing causes retinitis pigmentosa with choroidal involvement.
PubMed ID: 21654732
DOI: 10.1038/ejhg.2011.86
PubMed ID: 27307694
Title: The clinical features of retinal disease due to a dominant mutation in RPE65.
PubMed ID: 27307694
PubMed ID: 29659842
Title: Insights into the pathogenesis of dominant retinitis pigmentosa associated with a D477G mutation in RPE65.
PubMed ID: 29659842
DOI: 10.1093/hmg/ddy128
PubMed ID: 21602930
Title: Detection of variants in 15 genes in 87 unrelated Chinese patients with Leber congenital amaurosis.
PubMed ID: 21602930
PubMed ID: 22334370
Title: Next-generation genetic testing for retinitis pigmentosa.
PubMed ID: 22334370
DOI: 10.1002/humu.22045
PubMed ID: 22509104
Title: Novel RPE65 mutations associated with Leber congenital amaurosis in Chinese patients.
PubMed ID: 22509104
PubMed ID: 23878505
Title: Novel mutations in RPE65 identified in consanguineous Pakistani families with retinal dystrophy.
PubMed ID: 23878505
PubMed ID: 27535533
Title: Analysis of protein-coding genetic variation in 60,706 humans.
PubMed ID: 27535533
DOI: 10.1038/nature19057
PubMed ID: 28418496
Title: Homozygosity Mapping and Genetic Analysis of Autosomal Recessive Retinal Dystrophies in 144 Consanguineous Pakistani Families.
PubMed ID: 28418496
PubMed ID: 30628748
Title: Aberrant RNA splicing is the major pathogenic effect in a knock-in mouse model of the dominantly inherited c.1430A>G human RPE65 mutation.
PubMed ID: 30628748
DOI: 10.1002/humu.23706
Sequence Information:
- Length: 533
- Mass: 60948
- Checksum: 7193C93F3325798D
- Sequence:
MSIQVEHPAG GYKKLFETVE ELSSPLTAHV TGRIPLWLTG SLLRCGPGLF EVGSEPFYHL FDGQALLHKF DFKEGHVTYH RRFIRTDAYV RAMTEKRIVI TEFGTCAFPD PCKNIFSRFF SYFRGVEVTD NALVNVYPVG EDYYACTETN FITKINPETL ETIKQVDLCN YVSVNGATAH PHIENDGTVY NIGNCFGKNF SIAYNIVKIP PLQADKEDPI SKSEIVVQFP CSDRFKPSYV HSFGLTPNYI VFVETPVKIN LFKFLSSWSL WGANYMDCFE SNETMGVWLH IADKKRKKYL NNKYRTSPFN LFHHINTYED NGFLIVDLCC WKGFEFVYNY LYLANLRENW EEVKKNARKA PQPEVRRYVL PLNIDKADTG KNLVTLPNTT ATAILCSDET IWLEPEVLFS GPRQAFEFPQ INYQKYCGKP YTYAYGLGLN HFVPDRLCKL NVKTKETWVW QEPDSYPSEP IFVSHPDALE EDDGVVLSVV VSPGAGQKPA YLLILNAKDL SEVARAEVEI NIPVTFHGLF KKS
Database document:
This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.