ENSMUSG00000028174


Mus musculus

Features
Gene ID: ENSMUSG00000028174
  
Biological name :Rpe65
  
Synonyms : Q91ZQ5 / Retinoid isomerohydrolase / Rpe65
  
Possible biological names infered from orthology : Q16518 / RPE65, retinoid isomerohydrolase
  
Species: Mus musculus
  
Chr. number: 3
Strand: 1
Band: H4
Gene start: 159599175
Gene end: 159625321
  
Corresponding Affymetrix probe sets: 10497135 (MoGene1.0st)   1450197_at (Mouse Genome 430 2.0 Array)   
  
Cross references: Ensembl peptide - ENSMUSP00000143654
Ensembl peptide - ENSMUSP00000029824
Ensembl peptide - ENSMUSP00000143390
NCBI entrez gene - 19892     See in Manteia.
MGI - MGI:98001
RefSeq - NM_029987
RefSeq - XM_006501165
RefSeq Peptide - NP_084263
swissprot - A0A0G2JG19
swissprot - Q91ZQ5
Ensembl - ENSMUSG00000028174
  
See expression report in BioGPS
See gene description in Wikigenes
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 A9C3R8ENSDARG00000054420Danio rerio
 A9C3R9ENSDARG00000094752Danio rerio
 Q6PBW5ENSDARG00000007480Danio rerio
 RPE65ENSGALG00000011259Gallus gallus
 RPE65ENSG00000116745Homo sapiens


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
Bco2 / Q99NF1 / Beta,beta-carotene 9,10-oxygenase / Q9BYV7* / beta-carotene oxygenase 2*ENSMUSG0000003206637
Bco1 / Q9JJS6 / Beta,beta-carotene 15,15-dioxygenase / Q9HAY6* / beta-carotene oxygenase 1*ENSMUSG0000003184534


Protein motifs (from Interpro)
Interpro ID Name
 IPR004294  Carotenoid oxygenase


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0001895 retina homeostasis ISO
 biological_processGO:0003407 neural retina development IEA
 biological_processGO:0007468 regulation of rhodopsin gene expression IMP
 biological_processGO:0007601 visual perception IMP
 biological_processGO:0007623 circadian rhythm IEA
 biological_processGO:0008286 insulin receptor signaling pathway IMP
 biological_processGO:0009416 response to light stimulus IEA
 biological_processGO:0042572 retinol metabolic process IEA
 biological_processGO:0042574 retinal metabolic process IMP
 biological_processGO:0043010 camera-type eye development IEA
 biological_processGO:0050896 response to stimulus IEA
 biological_processGO:0050908 detection of light stimulus involved in visual perception ISO
 biological_processGO:0055114 oxidation-reduction process IEA
 biological_processGO:0060041 retina development in camera-type eye IMP
 biological_processGO:0060042 retina morphogenesis in camera-type eye IMP
 biological_processGO:0071257 cellular response to electrical stimulus IMP
 biological_processGO:1901827 zeaxanthin biosynthetic process ISO
 cellular_componentGO:0005737 cytoplasm IEA
 cellular_componentGO:0005783 endoplasmic reticulum IEA
 cellular_componentGO:0005886 plasma membrane IEA
 cellular_componentGO:0016020 membrane ISS
 cellular_componentGO:0031090 organelle membrane IEA
 cellular_componentGO:0043231 intracellular membrane-bounded organelle IEA
 cellular_componentGO:0044297 cell body IEA
 molecular_functionGO:0001786 phosphatidylserine binding ISS
 molecular_functionGO:0004744 retinal isomerase activity IMP
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0016702 oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen IEA
 molecular_functionGO:0016787 hydrolase activity IEA
 molecular_functionGO:0016853 isomerase activity ISO
 molecular_functionGO:0031210 phosphatidylcholine binding ISS
 molecular_functionGO:0046872 metal ion binding IEA
 molecular_functionGO:0052884 all-trans-retinyl-palmitate hydrolase, 11-cis retinol forming activity IEA
 molecular_functionGO:0052885 all-trans-retinyl-ester hydrolase, 11-cis retinol forming activity ISS
 molecular_functionGO:1901612 cardiolipin binding ISS


Pathways (from Reactome)
Pathway description
The canonical retinoid cycle in rods (twilight vision)


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 MP:0000218 increased WBC count "greater than normal WBC numbers" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator, MeSH:National Library of Medicine - Medical Subject Headings , 2003]
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Allelic Composition: Otud7btm1(NCOM)Cmhd/Otud7btm1(NCOM)Cmhd
Genetic Background: C57BL/6N-Otud7btm1(NCOM)Cmhd/Tcp

 MP:0000221 decreased WBC count "fewer than normal numbers of WBCs" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator, MeSH:National Library of Medicine - Medical Subject Headings , 2003]
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Allelic Composition: Otud7btm1(NCOM)Cmhd/Otud7btm1(NCOM)Cmhd
Genetic Background: C57BL/6N-Otud7btm1(NCOM)Cmhd/Tcp

 MP:0001317 abnormal pupil morphology "structural anomaly of the central circular aperture of the iris through which light rays enter the eye" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8]
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Allelic Composition: Otud7btm1(NCOM)Cmhd/Otud7btm1(NCOM)Cmhd
Genetic Background: C57BL/6N-Otud7btm1(NCOM)Cmhd/Tcp

 MP:0001325 abnormal retina morphology "structural or developmental anomaly of the thin layer of neural tissue lining the back of the eyeball which contains visual receptors " [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
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Allelic Composition: Otud7btm1(NCOM)Cmhd/Otud7btm1(NCOM)Cmhd
Genetic Background: C57BL/6N-Otud7btm1(NCOM)Cmhd/Tcp

 MP:0001326 retinal degeneration "pathological change in the thin layer of neural tissue lining the back of the eyeball, which contains visual receptors and can result in the impairment or cessation of retinal neural function" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, NMF:Stephanie Pretel, Neuroscience Mutagenesis Facility Curator]
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Allelic Composition: Lepob/Lep+,Tg(Apoe-Lepr)1Kry/0
Genetic Background: involves: C57BL/6J

Allelic Composition: Rpe65rd12/Rpe65rd12
Genetic Background: B6(A)-Rpe65rd12/J

Allelic Composition: Lrattm1Kpal/Lrattm1Kpal,Rhotm1.1Kpal/Rho+,Rpe65450L/Rpe65450M
Genetic Background: involves: 129S6/SvEvTac * C57BL/6 * FVB/N

 MP:0001327 reduced retinal photoreceptor cell number "fewer than the expected number of rods and/or cones" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
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Allelic Composition: Lrattm1Kpal/Lrattm1Kpal,Rhotm1.1Kpal/Rho+,Rpe65450L/Rpe65450M
Genetic Background: involves: 129S6/SvEvTac * C57BL/6 * FVB/N

 MP:0001399 hyperactivity "general restlessness or excessive movement; more frequent movement from one place to another" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:60409, J:57125]
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Allelic Composition: Otud7btm1(NCOM)Cmhd/Otud7btm1(NCOM)Cmhd
Genetic Background: C57BL/6N-Otud7btm1(NCOM)Cmhd/Tcp

 MP:0001402 hypoactivity "reduced movement from one place to another" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, csmith:Cynthia L. Smith , Mouse Genome Informatics Curator, J:64289]
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Allelic Composition: Otud7btm1(NCOM)Cmhd/Otud7btm1(NCOM)Cmhd
Genetic Background: C57BL/6N-Otud7btm1(NCOM)Cmhd/Tcp

 MP:0001513 limb grasping "mice clasp front and/or hind feet almost immediately upon being lifted by tail" [cml:Cathleen M. Lutz , Mouse Genome Informatics Curator]
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Allelic Composition: Otud7btm1(NCOM)Cmhd/Otud7btm1(NCOM)Cmhd
Genetic Background: C57BL/6N-Otud7btm1(NCOM)Cmhd/Tcp

 MP:0002092 abnormal eye morphology "abnormal development of the eye tissues resulting in morphological abnormality or abnormal structure of the visual system" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Rpgrtm1Wbrg/Rpgrtm1Wbrg
Genetic Background: C.129P2-Rpgrtm1Wbrg

 MP:0003011 delayed dark adaptation "increase in time required for the eye to recover its sensitivity in the dark following exposure to bright lights" [J:68444, hdene:Howard Dene , Mouse Genome Informatics Curator]
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Allelic Composition: Rpe65tm1Lrcb/Rpe65tm1Lrcb
Genetic Background: 129S6/SvEvTac-Rpe65tm1Lrcb

 MP:0003729 abnormal photoreceptor outer segments "malformation/anomalous structure of the photoreceptor layer which contains stacks of membranous discs that are rich in the visual pigment rhodopsin " [monikat:Monika Tomczuk, Mouse Genome Informatics Curator]
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Allelic Composition: Rpe65tm1Lrcb/Rpe65tm1Lrcb
Genetic Background: 129S6/SvEvTac-Rpe65tm1Lrcb

 MP:0004021 abnormal rod electrophysiology "anomaly in the function of dark adapted vision mediated by the rods" [smb:Susan M Bello, Mouse Genome Informatics Curator]
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Allelic Composition: Rpe65tm1Tmr/Rpe65tm1Tmr
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

Allelic Composition: Rpe65rd12/Rpe65rd12
Genetic Background: B6(A)-Rpe65rd12/J

Allelic Composition: Rpe65tm1Lrcb/Rpe65tm1Lrcb
Genetic Background: 129S6/SvEvTac-Rpe65tm1Lrcb

Allelic Composition: Rpe65tvrm148/Rpe65tvrm148
Genetic Background: C57BL/6J-Rpe65tvrm148/J

 MP:0004022 abnormal cone electrophysiology "anomaly in the function of light adapted vision mediated by the cones" [smb:Susan M Bello, Mouse Genome Informatics Curator]
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Allelic Composition: Rpe65rd12/Rpe65rd12
Genetic Background: B6(A)-Rpe65rd12/J

Allelic Composition: Rpe65tvrm148/Rpe65tvrm148
Genetic Background: C57BL/6J-Rpe65tvrm148/J

 MP:0005103 abnormal retinal pigmentation "anomalous coloring of the thin layer of neural tissue lining the back of the eyeball which contains visual receptors " [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
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Allelic Composition: Rp1tvrm64/Rp1tvrm64
Genetic Background: C57BL/6J-Rp1tvrm64/J

 MP:0005201 abnormal retinal pigment epithelium morphology "anomaly in the epithelial layer of the retina composed of cells containing pigment granules " [MeSH:National Library of Medicine - Medical Subject Headings , 2003]
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Allelic Composition: Lepob/Lep+,Tg(Apoe-Lepr)1Kry/0
Genetic Background: involves: C57BL/6J

Allelic Composition: Rpe65tm1Lrcb/Rpe65tm1Lrcb
Genetic Background: 129S6/SvEvTac-Rpe65tm1Lrcb

 MP:0005253 abnormal eye physiology "anomalous function and/or activity of the ocular system or any of its parts" [MeSH:National Library of Medicine - Medical Subject Headings , 2003]
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Allelic Composition: Gbatm2Ggb/Gbatm1Nsb
Genetic Background: involves: 129S/SvEv * 129S5/SvEvBrd * C57BL/6

Allelic Composition: Rpe65tm1Tmr/Rpe65tm1Tmr
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

Allelic Composition: Rpe65450M/Rpe65450M,Rpgrtm1Wbrg/Rpgrtm1Wbrg
Genetic Background: involves: 129P2/OlaHsd * BALB/c * C57BL/6

Allelic Composition: Rpe65450L/Rpe65450L,Whrnwi/Whrnwi
Genetic Background: 129.Cg(B6)-Whrnwi

 MP:0005551 abnormal eye electrophysiology "abnormal function of the eye as determined through electrophysiological recordings from single cells or summary recordings from multiple cells (e.g. electroretinogram)" [NMF:Stephanie Pretel, Neuroscience Mutagenesis Facility Curator]
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Allelic Composition: Rpe65rd12/Rpe65rd12
Genetic Background: B6(A)-Rpe65rd12/J

Allelic Composition: Cnga3tm1Biel/Cnga3tm1Biel,Rpe65tm1Tmr/Rpe65tm1Tmr
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

 MP:0008444 retinal cone cell degeneration "a retrogressive impairment of function or destruction of one of the photoreceptor cell types in the retina, in which the photopigment is in invaginations of the cell membrane of the outer segment" [MESH:A08.663.650.650.670.100, MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Lynm1Apb/Lynm1Apb
Genetic Background: C57BL/6JAnu-Lynm1Apb

 MP:0008450 retinal photoreceptor degeneration "a retrogressive impairment of function or destruction of a cell specialized to detect and transduce light, including rods and cones of the retina" [MESH:A08.663.650.650, MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: RhoTvrm4/Rho+,Rpe65rd12/Rpe65rd12
Genetic Background: B6.Cg-Rpe65rd12 RhoTvrm4

Allelic Composition: RhoTvrm1/Rho+,Rpe65rd12/Rpe65rd12
Genetic Background: B6.Cg-Rpe65rd12 RhoTvrm1

Allelic Composition: Rpe65tvrm148/Rpe65tvrm148
Genetic Background: C57BL/6J-Rpe65tvrm148/J

Allelic Composition: Lrattm1Kpal/Lrattm1Kpal,Rhotm1.1Kpal/Rho+,Rpe65450L/Rpe65450M
Genetic Background: involves: 129S6/SvEvTac * C57BL/6 * FVB/N

Allelic Composition: Rpe65tm1Tmr/Rpe65tm1Tmr
Genetic Background: involves: 129S1/Sv * 129X1/SvJ

Allelic Composition: Rpe65450L/Rpe65450L,Whrnwi/Whrnwi
Genetic Background: 129.Cg(B6)-Whrnwi

 MP:0008451 retinal rod cell degeneration "a retrogressive impairment of function or destruction of one of the photoreceptor cell types of the vertebrate retina, in which the photopigment is in stacks of membranous disks separate from the outer cell membrane" [MESH:A08.663.650.650.670.650]
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Allelic Composition: Rpe65tm1Tmr/Rpe65tm1Tmr
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

Allelic Composition: Lrattm1Kpal/Lrattm1Kpal,Rhotm1.1Kpal/Rho+,Rpe65450L/Rpe65450M
Genetic Background: involves: 129S6/SvEvTac * C57BL/6 * FVB/N

 MP:0008455 abnormal retinal rod cell inner segment morphology "any structural anomaly of the retinal rod cell region which contains the machinery of the cell (mitochondria, golgi, endoplasmic reticulum, etc) and where opsin molecules are assembled and passed to be part of the outer segment region" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Rpe65450L/Rpe65450L,Whrnwi/Whrnwi
Genetic Background: 129.Cg(B6)-Whrnwi

 MP:0008456 abnormal retinal rod cell outer segment morphology "any strucutral anomaly of the retinal rod cell region which contains stacks of membranous discs separate from the outer cell membrane that are rich in the visual pigment rhodopsin" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Rpe65tm1Tmr/Rpe65tm1Tmr
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

Allelic Composition: Rpe65rd12/Rpe65rd12
Genetic Background: B6(A)-Rpe65rd12/J

Allelic Composition: Lrattm1Kpal/Lrattm1Kpal,Rhotm1.1Kpal/Rho+,Rpe65450L/Rpe65450M
Genetic Background: involves: 129S6/SvEvTac * C57BL/6 * FVB/N

 MP:0008515 thin retinal outer nuclear layer "reduced thickness of the retinal layer that contains the nuclei and cell bodies of rods and cones" [MGI:monikat "Monika Tomczuk, Mouse Genome Informatics Curator"]
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Allelic Composition: Rpe65tm1Tmr/Rpe65tm1Tmr
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

Allelic Composition: Rpe65rd12/Rpe65rd12
Genetic Background: B6(A)-Rpe65rd12/J

Allelic Composition: Rpe65450L/Rpe65450L
Genetic Background: BALB/c

Allelic Composition: Lrattm1Kpal/Lrattm1Kpal,Rhotm1.1Kpal/Rho+,Rpe65450L/Rpe65450M
Genetic Background: involves: 129S6/SvEvTac * C57BL/6 * FVB/N

 MP:0008518 retinal outer nuclear layer degeneration "a retrogressive impairment or destruction of the retinal layer that contains the nuclei and cell bodies of rods and cones" [MGI:monikat "Monika Tomczuk, Mouse Genome Informatics Curator"]
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Allelic Composition: Rpe65tm1Tmr/Rpe65tm1Tmr
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

Allelic Composition: Rpe65tm1Lrcb/Rpe65tm1Lrcb
Genetic Background: 129S6/SvEvTac-Rpe65tm1Lrcb

Allelic Composition: Rpe65450L/Rpe65450L
Genetic Background: BALB/c

Allelic Composition: RhoTvrm4/Rho+,Rpe65rd12/Rpe65rd12
Genetic Background: B6.Cg-Rpe65rd12 RhoTvrm4

Allelic Composition: RhoTvrm1/Rho+,Rpe65rd12/Rpe65rd12
Genetic Background: B6.Cg-Rpe65rd12 RhoTvrm1

 MP:0008582 short photoreceptor inner segment "decreased length of the photoreceptor region which contains the machinery of the cell (mitochondria, golgi, endoplasmic reticulum, etc) and where opsin molecules are assembled and passed to be part of the outer segment region" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Rpe65tvrm148/Rpe65tvrm148
Genetic Background: C57BL/6J-Rpe65tvrm148/J

 MP:0008584 photoreceptor outer segment degeneration "retrogressive pathologic change in the photoreceptor region that is rich in the visual pigment rhodopsin" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Rpe65tm1Tmr/Rpe65tm1Tmr
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

Allelic Composition: Rpe65tm1Lrcb/Rpe65tm1Lrcb
Genetic Background: 129S6/SvEvTac-Rpe65tm1Lrcb

 MP:0008586 disorganized photoreceptor outer segment "derangement of the pattern of the photoreceptor region that is rich in the visual pigment rhodopsin" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Rpe65tm1Tmr/Rpe65tm1Tmr
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

Allelic Composition: Rpe65tm1Lrcb/Rpe65tm1Lrcb
Genetic Background: 129S6/SvEvTac-Rpe65tm1Lrcb

 MP:0008587 short photoreceptor outer segment "decreased length of the photoreceptor region that is rich in the visual pigment rhodopsin" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Rpe65tm1Tmr/Rpe65tm1Tmr
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

Allelic Composition: Rpe65tm1Lrcb/Rpe65tm1Lrcb
Genetic Background: 129S6/SvEvTac-Rpe65tm1Lrcb

Allelic Composition: Rpe65tvrm148/Rpe65tvrm148
Genetic Background: C57BL/6J-Rpe65tvrm148/J

 MP:0011233 abnormal vitamin A metabolism "altered ability to metabolize any of the vitamin A compounds, retinol, retinal (retinaldehyde) and retinoic acid; animals can not synthesize vitamin A de novo, but form it through oxidative cleavage of carotenoids supplied in the diet" [GO:0035238]
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Allelic Composition: Rpe65tm1Tmr/Rpe65tm1Tmr
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

Allelic Composition: Rpe65tm1Lrcb/Rpe65tm1Lrcb
Genetic Background: 129S6/SvEvTac-Rpe65tm1Lrcb

Allelic Composition: Plin2tm1Itl/Plin2tm1Itl,Rpe65tm1Tmr/Rpe65tm1Tmr,Tyrc-2J/Tyrc-2J
Genetic Background: involves: 129S1/Sv * 129S6/SvEvTac * 129X1/SvJ * BALB/c * C57BL/6

 MP:0012671 retinal spots "the appearance of roundish lesions on the retina, frequently white, and may be due to inflammation, degeneration, vasculitis, exudates, edema or mineral deposits" [MGI:csmith]
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Allelic Composition: Rpe65tvrm148/Rpe65tvrm148
Genetic Background: C57BL/6J-Rpe65tvrm148/J

  


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

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