ENSMUSG00000057132


Mus musculus

Features
Gene ID: ENSMUSG00000057132
  
Biological name :Rpgrip1
  
Synonyms : Q9EPQ2 / retinitis pigmentosa GTPase regulator interacting protein 1 / Rpgrip1
  
Possible biological names infered from orthology : Q96KN7 / RPGR interacting protein 1
  
Species: Mus musculus
  
Chr. number: 14
Strand: 1
Band: C2
Gene start: 52110704
Gene end: 52163546
  
Corresponding Affymetrix probe sets: 10414663 (MoGene1.0st)   1421144_at (Mouse Genome 430 2.0 Array)   1431357_a_at (Mouse Genome 430 2.0 Array)   1451785_at (Mouse Genome 430 2.0 Array)   1454231_a_at (Mouse Genome 430 2.0 Array)   
  
Cross references: Ensembl peptide - ENSMUSP00000137991
Ensembl peptide - ENSMUSP00000137900
Ensembl peptide - ENSMUSP00000138027
Ensembl peptide - ENSMUSP00000107227
Ensembl peptide - ENSMUSP00000107230
Ensembl peptide - ENSMUSP00000137664
Ensembl peptide - ENSMUSP00000137667
Ensembl peptide - ENSMUSP00000137751
Ensembl peptide - ENSMUSP00000137840
Ensembl peptide - ENSMUSP00000137892
NCBI entrez gene - 77945     See in Manteia.
MGI - MGI:1932134
RefSeq - XM_017316223
RefSeq - NM_001168515
RefSeq - NM_023879
RefSeq - XM_006519689
RefSeq - XM_006519692
RefSeq - XM_017316222
RefSeq Peptide - NP_076368
RefSeq Peptide - NP_001161987
swissprot - E9QQ97
swissprot - Q9EPQ2
swissprot - E7CHD7
swissprot - M0QW56
swissprot - M0QW58
swissprot - M0QWC0
swissprot - M0QWI1
swissprot - M0QWM1
swissprot - M0QWL3
swissprot - M0QWT5
Ensembl - ENSMUSG00000057132
  
See expression report in BioGPS
See gene description in Wikigenes
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 rpgrip1ENSDARG00000076055Danio rerio
 Q96KN7ENSG00000092200Homo sapiens


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
Q8CG73 / Rpgrip1l / Rpgrip1-like / Q68CZ1*ENSMUSG0000003328228


Protein motifs (from Interpro)
Interpro ID Name
 IPR000008  C2 domain
 IPR021656  RPGR-interacting protein 1, first C2 domain
 IPR031134  Retinitis pigmentosa GTPase regulator-interacting protein 1
 IPR031139  RPGRIP1 family
 IPR035892  C2 domain superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0007601 visual perception IEA
 biological_processGO:0042462 eye photoreceptor cell development IEA
 biological_processGO:0050896 response to stimulus IEA
 biological_processGO:0060041 retina development in camera-type eye IMP
 biological_processGO:0061351 neural precursor cell proliferation IMP
 cellular_componentGO:0005929 cilium IDA
 cellular_componentGO:0005930 axoneme IDA
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0016021 integral component of membrane IEA
 cellular_componentGO:0032391 photoreceptor connecting cilium IEA
 cellular_componentGO:0042995 cell projection IEA
 cellular_componentGO:0097730 non-motile cilium IDA


Pathways (from Reactome)
Pathway description
No match


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 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: Pld4mpc96H/Pld4mpc96H
Genetic Background: involves: BALB/c * C3H/HeH * C57BL/6J

Allelic Composition: Rpgrip1tvrm111/Rpgrip1tvrm111
Genetic Background: C57BL/6J-Rpgrip1tvrm111/Pjn

 MP:0003381 vitreal fibroplasia "production of excess fibrous tissue in the vitreous body of the eye" [brs:Beverly Richards-Smith, Mouse Genome Informatics Curator]
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Allelic Composition: Large1enr-Tg(MbpReg)36Pop/Large1enr-Tg(MbpReg)36Pop
Genetic Background: involves: C57BL/6J * DBA/2J * SJL/J

 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: Agtr2tm1Tin/Y
Genetic Background: involves: 129P2/OlaHsd * C57BL/6

 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: Agtr2tm1Tin/Y
Genetic Background: involves: 129P2/OlaHsd * C57BL/6

Allelic Composition: Rpgrip1nmf247/Rpgrip1nmf247
Genetic Background: C57BL/6J-Rpgrip1nmf247

 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: Agtr2tm1Tin/Y
Genetic Background: involves: 129P2/OlaHsd * C57BL/6

Allelic Composition: Rpgrip1nmf247/Rpgrip1nmf247
Genetic Background: C57BL/6J-Rpgrip1nmf247

 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: Agtr2tm1Tin/Y
Genetic Background: involves: 129P2/OlaHsd * C57BL/6

Allelic Composition: Rpgrtm1Tili/Rpgrtm1Tili,Rpgrip1tm1Tili/Rpgrip1tm1Tili
Genetic Background: involves: 129S4/SvJae * C57BL/6

Allelic Composition: Rpgrip1nmf247/Rpgrip1nmf247
Genetic Background: C57BL/6J-Rpgrip1nmf247

Allelic Composition: Rpgrip1nmf247/Rpgrip1nmf247
Genetic Background: involves: 129X1/SvJ * C57BL/6J

 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: Rpgrip1nmf247/Rpgrip1nmf247
Genetic Background: C57BL/6J-Rpgrip1nmf247

 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"]
Show

Allelic Composition: Rpgrip1nmf247/Rpgrip1nmf247
Genetic Background: C57BL/6J-Rpgrip1nmf247

 MP:0008585 absent photoreceptor outer segment "absence 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: Rpgrip1nmf247/Rpgrip1nmf247
Genetic Background: C57BL/6J-Rpgrip1nmf247

 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"]
Show

Allelic Composition: Rpgrip1tvrm111/Rpgrip1tvrm111
Genetic Background: C57BL/6J-Rpgrip1tvrm111/Pjn

 MP:0012029 abnormal electroretinogram waveform feature "any anomaly in the pattern of the graphic record of the integrated ensemble response from many vision related neuronal and glial populations as a consequence of the serial processing within the retina, represented as changes in voltage over time after visual photonic stimulation" [MGI:csmith]
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Allelic Composition: Rpgrip1tvrm111/Rpgrip1tvrm111
Genetic Background: C57BL/6J-Rpgrip1tvrm111/Pjn

 MP:0012143 decreased a wave amplitude "reduction in the size (height or maximum displacement) of the a wave as measured in the electroretinogram" [MGI:csmith]
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Allelic Composition: Rpgrip1tvrm111/Rpgrip1tvrm111
Genetic Background: C57BL/6J-Rpgrip1tvrm111/Pjn

 MP:0012144 decreased b wave amplitude "reduction in the size (height or maximum displacement) of the b wave as measured in the electroretinogram" [MGI:csmith]
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Allelic Composition: Rpgrip1tvrm111/Rpgrip1tvrm111
Genetic Background: C57BL/6J-Rpgrip1tvrm111/Pjn

 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]
Show

Allelic Composition: Rpgrip1nmf247/Rpgrip1nmf247
Genetic Background: C57BL/6J-Rpgrip1nmf247

  


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






 

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