ENSMUSG00000031293


Mus musculus

Features
Gene ID: ENSMUSG00000031293
  
Biological name :Rs1
  
Synonyms : Q9Z1L4 / retinoschisis (X-linked, juvenile) 1 (human) / Rs1
  
Possible biological names infered from orthology : O15537 / retinoschisin 1
  
Species: Mus musculus
  
Chr. number: X
Strand: 1
Band: F4
Gene start: 160768013
Gene end: 160799663
  
Corresponding Affymetrix probe sets: 10602966 (MoGene1.0st)   1421084_at (Mouse Genome 430 2.0 Array)   1421085_at (Mouse Genome 430 2.0 Array)   
  
Cross references: Ensembl peptide - ENSMUSP00000107987
Ensembl peptide - ENSMUSP00000033650
NCBI entrez gene - 20147     See in Manteia.
MGI - MGI:1336189
RefSeq - NM_011302
RefSeq Peptide - NP_035432
swissprot - B1AU64
swissprot - Q9Z1L4
Ensembl - ENSMUSG00000031293
  
See expression report in BioGPS
See gene description in Wikigenes
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 rs1aENSDARG00000027236Danio rerio
 RS1ENSGALG00000016523Gallus gallus
 RS1ENSG00000102104Homo sapiens


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
F5 / O88783 / Coagulation factor V Coagulation factor V heavy chain Coagulation factor V light chain / P12259* / coagulation factor V*ENSMUSG0000002657936
F8 / Q06194 / Coagulation factor VIII / P00451*ENSMUSG0000003119633
Edil3 / O35474 / EGF-like repeat and discoidin I-like domain-containing protein 3 / O43854* / EGF like repeats and discoidin domains 3*ENSMUSG0000003448827
Nrp2 / O35375 / Neuropilin-2 / O60462*ENSMUSG0000002596926
Mfge8 / P21956 / milk fat globule-EGF factor 8 protein / Q08431*ENSMUSG0000003060525
Nrp1 / P97333 / Neuropilin-1 / O14786*ENSMUSG0000002581023
Dcbld2 / Q91ZV3 / Mus musculus discoidin, CUB and LCCL domain containing 2 (Dcbld2), transcript variant 2, mRNA. / Q96PD2* / discoidin, CUB and LCCL domain containing 2*ENSMUSG0000003510716
Hephl1 / Q3V1H3 / Hephaestin-like protein 1 / Q6MZM0* / hephaestin like 1*ENSMUSG0000003193615
Cp / Q61147 / Ceruloplasmin / P00450*ENSMUSG0000000361714
Heph / Q9Z0Z4 / Hephaestin / Q9BQS7*ENSMUSG0000003120913
Dcbld1 / Q9D4J3 / Mus musculus discoidin, CUB and LCCL domain containing 1 (Dcbld1), transcript variant 2, mRNA. / Q8N8Z6* / discoidin, CUB and LCCL domain containing 1*ENSMUSG0000001989110


Protein motifs (from Interpro)
Interpro ID Name
 IPR000421  Coagulation factor 5/8 C-terminal domain
 IPR008979  Galactose-binding-like domain superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0007155 cell adhesion IEA
 biological_processGO:0007601 visual perception ISO
 biological_processGO:0010842 retina layer formation IMP
 biological_processGO:0016062 adaptation of rhodopsin mediated signaling IMP
 biological_processGO:0050896 response to stimulus IEA
 biological_processGO:0051260 protein homooligomerization IEA
 cellular_componentGO:0005576 extracellular region IDA
 cellular_componentGO:0005615 extracellular space IEA
 cellular_componentGO:0005886 plasma membrane IEA
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0019897 extrinsic component of plasma membrane IDA
 molecular_functionGO:0001786 phosphatidylserine binding IDA
 molecular_functionGO:0005546 phosphatidylinositol-4,5-bisphosphate binding IDA
 molecular_functionGO:0005547 phosphatidylinositol-3,4,5-trisphosphate binding IDA
 molecular_functionGO:0008289 lipid binding IEA
 molecular_functionGO:0010314 phosphatidylinositol-5-phosphate binding IDA
 molecular_functionGO:0032266 phosphatidylinositol-3-phosphate binding IDA
 molecular_functionGO:0043325 phosphatidylinositol-3,4-bisphosphate binding IDA
 molecular_functionGO:0070273 phosphatidylinositol-4-phosphate binding IDA
 molecular_functionGO:0070492 oligosaccharide binding IBA
 molecular_functionGO:0080025 phosphatidylinositol-3,5-bisphosphate binding IDA


Pathways (from Reactome)
Pathway description
No match


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 MP:0001004 abnormal photoreceptor morphology "structural or developmental anomaly of the receptors sensitive to light " [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
Show

Allelic Composition: Cd247tm1Lov/Cd247tm1Lov,Fcer1gtm1Rav/Fcer1gtm1Rav
Genetic Background: involves: 129P2/OlaHsd * 129S4/SvJae * C57BL/6

 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]
Show

Allelic Composition: Htr3atm1Ckn/Htr3a+
Genetic Background: involves: 129S1/Sv * C57BL/6J * DBA/2

Allelic Composition: Rs1tm1Sie/Y
Genetic Background: involves: 129S/SvEv * C57BL/6J

 MP:0001328 disorganized retinal layers "delaminated or mispositioned sheets of cells comprising the optic part of the retina" [J:33400]
Show

Allelic Composition: Cd247tm1Lov/Cd247tm1Lov,Fcer1gtm1Rav/Fcer1gtm1Rav
Genetic Background: involves: 129P2/OlaHsd * 129S4/SvJae * C57BL/6

Allelic Composition: Rs1tm1Sie/Y
Genetic Background: involves: 129S/SvEv * C57BL/6J

 MP:0002864 abnormal ocular fundus morphology "malformation of the posterior concave interior of the eye, consisting of the retina, the choroid, the posterior segment of the sclera, the optic disk, and blood vessels, visible by an ophthalmoscope" [MeSH:National Library of Medicine - Medical Subject Headings , 2003]
Show

Allelic Composition: Cd247tm1Lov/Cd247tm1Lov,Fcer1gtm1Rav/Fcer1gtm1Rav
Genetic Background: involves: 129P2/OlaHsd * 129S4/SvJae * C57BL/6

 MP:0003728 abnormal photoreceptor layer "malformation/anomalous structure of the photoreceptor layer" [monikat:Monika Tomczuk, Mouse Genome Informatics Curator]
Show

Allelic Composition: Cd247tm1Lov/Cd247tm1Lov,Fcer1gtm1Rav/Fcer1gtm1Rav
Genetic Background: involves: 129P2/OlaHsd * 129S4/SvJae * C57BL/6

Allelic Composition: Rs1tm1Web/Y
Genetic Background: involves: 129S1/Sv * C57BL/6

 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]
Show

Allelic Composition: Cd247tm1Lov/Cd247tm1Lov,Fcer1gtm1Rav/Fcer1gtm1Rav
Genetic Background: involves: 129P2/OlaHsd * 129S4/SvJae * C57BL/6

 MP:0003730 abnormal photoreceptor inner segments "malformation/anomalous structure of the photoreceptor layer which contains the machinery of the cell (mitochondria, golgi, endoplasmic reticulum, etc)" [monikat:Monika Tomczuk, Mouse Genome Informatics Curator]
Show

Allelic Composition: Cd247tm1Lov/Cd247tm1Lov,Fcer1gtm1Rav/Fcer1gtm1Rav
Genetic Background: involves: 129P2/OlaHsd * 129S4/SvJae * C57BL/6

 MP:0003731 abnormal outer nuclear layer morphology "malformation/anomalous structure of the retinal layer that contains the nuclei and cell bodies of rods and cones" [monikat:Monika Tomczuk, Mouse Genome Informatics Curator]
Show

Allelic Composition: Cd247tm1Lov/Cd247tm1Lov,Fcer1gtm1Rav/Fcer1gtm1Rav
Genetic Background: involves: 129P2/OlaHsd * 129S4/SvJae * C57BL/6

 MP:0003732 abnormal outer plexiform layer morphology "malformation/anomalous structure of the retinal layer that is the site of synapses between the rods and cones (axons) and the horizontal and bipolar cells (dendrites)" [monikat:Monika Tomczuk, Mouse Genome Informatics Curator]
Show

Allelic Composition: Cd247tm1Lov/Cd247tm1Lov,Fcer1gtm1Rav/Fcer1gtm1Rav
Genetic Background: involves: 129P2/OlaHsd * 129S4/SvJae * C57BL/6

 MP:0003733 abnormal inner nuclear layer morphology "malformation/anomalous structure of the retinal layer which contains the cell bodies of bipolar, horizontal, and amacrine cells" [monikat:Monika Tomczuk, Mouse Genome Informatics Curator]
Show

Allelic Composition: Cd247tm1Lov/Cd247tm1Lov,Fcer1gtm1Rav/Fcer1gtm1Rav
Genetic Background: involves: 129P2/OlaHsd * 129S4/SvJae * C57BL/6

 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]
Show

Allelic Composition: Rs1tm1Web/Y
Genetic Background: involves: 129S1/Sv * C57BL/6

 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]
Show

Allelic Composition: Cd247tm1Lov/Cd247tm1Lov,Fcer1gtm1Rav/Fcer1gtm1Rav
Genetic Background: involves: 129P2/OlaHsd * 129S4/SvJae * C57BL/6

 MP:0005240 abnormal amacrine cell morphology "anomalous structure of the interneurons of the retina" [MeSH:National Library of Medicine - Medical Subject Headings , 2003]
Show

Allelic Composition: Cd247tm1Lov/Cd247tm1Lov,Fcer1gtm1Rav/Fcer1gtm1Rav
Genetic Background: involves: 129P2/OlaHsd * 129S4/SvJae * C57BL/6

 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]
Show

Allelic Composition: Cd247tm1Lov/Cd247tm1Lov,Fcer1gtm1Rav/Fcer1gtm1Rav
Genetic Background: involves: 129P2/OlaHsd * 129S4/SvJae * C57BL/6

Allelic Composition: Rs1tm1Web/Y
Genetic Background: involves: 129S1/Sv * C57BL/6

Allelic Composition: Rs1tm1Sie/Y
Genetic Background: involves: 129S/SvEv * C57BL/6J

Allelic Composition: Rs1tm1Sie/Rs1tm1Sie
Genetic Background: involves: 129S/SvEv * C57BL/6J

 MP:0006069 abnormal retinal neuronal layer morphology "malformation in any of the neuronal layers that make up the retina, including the ganglion cell, inner plexiform, inner nuclear, outer plexiform, outer nuclear layers, the inner and outer segments" [smb:Susan M Bello, Mouse Genome Informatics Curator, Gray s Anatomy:ISBN 0-914294-08-3]
Show

Allelic Composition: Cd247tm1Lov/Cd247tm1Lov,Fcer1gtm1Rav/Fcer1gtm1Rav
Genetic Background: involves: 129P2/OlaHsd * 129S4/SvJae * C57BL/6

Allelic Composition: Rs1tm1Sie/Y
Genetic Background: involves: 129S/SvEv * C57BL/6J

Allelic Composition: Morq1AKR/J/Morq1AKR/J,Rs1tmgc1/Y
Genetic Background: involves: AKR/J * C3H/Rl * C57BL/6JRn

Allelic Composition: Morq1AKR/J/Morq1C57BL/6JRn,Rs1tmgc1/Y
Genetic Background: involves: AKR/J * C3H/Rl * C57BL/6JRn

Allelic Composition: Morq1AKR/J/Morq1C3H/Rl,Rs1tmgc1/Y
Genetic Background: involves: AKR/J * C3H/Rl * C57BL/6JRn

Allelic Composition: Morq1AKR/J/Morq1AKR/J,Rs1tmgc1/Y
Genetic Background: B6.Cg-Rs1tmgc1 Morq1AKR/J

Allelic Composition: Morq1AKR/J/Morq1AKR/J,Rs1tmgc1/Rs1tmgc1
Genetic Background: B6.Cg-Rs1tmgc1 Morq1AKR/J

 MP:0008446 decreased retinal cone cell number "reduced number 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"]
Show

Allelic Composition: Rs1tm1Web/Y
Genetic Background: involves: 129S1/Sv * C57BL/6

 MP:0008512 disorganized retinal inner nuclear layer "derangement of the normal pattern of the retinal layer which contains the cell bodies of bipolar, horizontal, and amacrine cells" [MGI:monikat "Monika Tomczuk, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Rs1tm1Web/Y
Genetic Background: involves: 129S1/Sv * C57BL/6

 MP:0008516 disorganized retinal outer nuclear layer "derangement of the normal pattern of the retinal layer that contains the nuclei and cell bodies of rods and cones" [MGI:monikat "Monika Tomczuk, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Rs1tm1Web/Y
Genetic Background: involves: 129S1/Sv * C57BL/6

 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"]
Show

Allelic Composition: Rs1tm1Web/Y
Genetic Background: involves: 129S1/Sv * C57BL/6

  


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






 

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