ENSMUSG00000031214


Mus musculus

Features
Gene ID: ENSMUSG00000031214
  
Biological name :Ophn1
  
Synonyms : Oligophrenin-1 / Ophn1 / Q99J31
  
Possible biological names infered from orthology : O60890
  
Species: Mus musculus
  
Chr. number: X
Strand: -1
Band: C3
Gene start: 98554277
Gene end: 98891025
  
Corresponding Affymetrix probe sets: 10605884 (MoGene1.0st)   1419107_at (Mouse Genome 430 2.0 Array)   1419108_at (Mouse Genome 430 2.0 Array)   1444602_at (Mouse Genome 430 2.0 Array)   1456709_at (Mouse Genome 430 2.0 Array)   
  
Cross references: Ensembl peptide - ENSMUSP00000121723
Ensembl peptide - ENSMUSP00000033560
Ensembl peptide - ENSMUSP00000109457
Ensembl peptide - ENSMUSP00000119361
NCBI entrez gene - 94190     See in Manteia.
MGI - MGI:2151070
RefSeq - XM_017318648
RefSeq - NM_001313754
RefSeq - NM_001313755
RefSeq - NM_052976
RefSeq - XM_011247693
RefSeq - XM_011247694
RefSeq Peptide - NP_001300684
RefSeq Peptide - NP_443208
RefSeq Peptide - NP_001300683
swissprot - B1AXS4
swissprot - Q99J31
swissprot - B1AV64
Ensembl - ENSMUSG00000031214
  
See expression report in BioGPS
See gene description in Wikigenes
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 ophn1ENSDARG00000035420Danio rerio
 OPHN1ENSGALG00000029652Gallus gallus
 OPHN1ENSG00000079482Homo sapiens


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
B2RQE8 / Arhgap42 / Rho GTPase activating protein 42 / A6NI28* / Q9H2Q1*ENSMUSG0000005073048
Q6ZQ82 / Arhgap26 / Rho GTPase activating protein 26 / Q9UNA1*ENSMUSG0000003645243
Q6Y5D8 / Arhgap10 / Rho GTPase-activating protein 10 / A1A4S6*ENSMUSG0000003714842
Q8CGF1 / Arhgap29 / Mus musculus Rho GTPase activating protein 29 (Arhgap29), transcript variant 2, mRNA. / Q52LW3* / Rho GTPase activating protein 29*ENSMUSG0000003983116
Q3TBD2 / Arhgap45 / Mus musculus Rho GTPase activating protein 45 (Arhgap45), transcript variant 3, mRNA. / Q92619* / Rho GTPase activating protein 45*ENSMUSG0000003569715
Gmip / Q6PGG2 / Gem-interacting protein / Q9P107*ENSMUSG0000003624614
Q811P8 / Arhgap32 / Rho GTPase-activating protein 32 / A7KAX9*ENSMUSG0000004144414
Q80YF9 / Arhgap33 / Rho GTPase-activating protein 33 / O14559*ENSMUSG0000003688213
Q9WVM1 / Racgap1 / Rac GTPase-activating protein 1 / Q9H0H5*ENSMUSG0000002301512
Q62172 / Ralbp1 / ralA binding protein 1 / Q15311*ENSMUSG0000002409611
Arhgap30 / Rho GTPase activating protein 30 / Q7Z6I6*ENSMUSG0000004886511
A6X8Z5 / Arhgap31 / Rho GTPase activating protein 31 / Q2M1Z3*ENSMUSG0000002279911


Protein motifs (from Interpro)
Interpro ID Name
 IPR000198  Rho GTPase-activating protein domain
 IPR001849  Pleckstrin homology domain
 IPR008936  Rho GTPase activation protein
 IPR011993  PH-like domain superfamily
 IPR027267  AH/BAR domain superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0006897 endocytosis IEA
 biological_processGO:0007165 signal transduction IEA
 biological_processGO:0007399 nervous system development IEA
 biological_processGO:0021707 cerebellar granule cell differentiation ISO
 biological_processGO:0021895 cerebral cortex neuron differentiation ISO
 biological_processGO:0030036 actin cytoskeleton organization IDA
 biological_processGO:0030100 regulation of endocytosis IMP
 biological_processGO:0030182 neuron differentiation ISO
 biological_processGO:0031175 neuron projection development ISO
 biological_processGO:0034329 cell junction assembly ISO
 biological_processGO:0035023 regulation of Rho protein signal transduction ISO
 biological_processGO:0043547 positive regulation of GTPase activity IEA
 biological_processGO:0045198 establishment of epithelial cell apical/basal polarity ISS
 biological_processGO:0048488 synaptic vesicle endocytosis IMP
 biological_processGO:0048667 cell morphogenesis involved in neuron differentiation ISO
 biological_processGO:0051966 regulation of synaptic transmission, glutamatergic IMP
 biological_processGO:1901799 negative regulation of proteasomal protein catabolic process IDA
 cellular_componentGO:0005737 cytoplasm IEA
 cellular_componentGO:0015629 actin cytoskeleton IDA
 cellular_componentGO:0030054 cell junction IEA
 cellular_componentGO:0030424 axon IEA
 cellular_componentGO:0030425 dendrite IEA
 cellular_componentGO:0042995 cell projection IEA
 cellular_componentGO:0043195 terminal bouton IDA
 cellular_componentGO:0043197 dendritic spine IEA
 cellular_componentGO:0045202 synapse IEA
 molecular_functionGO:0003779 actin binding IDA
 molecular_functionGO:0005096 GTPase activator activity IMP
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0005543 phospholipid binding ISO
 molecular_functionGO:0035255 ionotropic glutamate receptor binding IEA


Pathways (from Reactome)
Pathway description
Rho GTPase cycle


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 MP:0000402 abnormal zigzag hairs "anomalies of truncal hairs that contain one air cell in the medulla" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
Show

Allelic Composition: Il6sttm1Thir/Il6sttm1Thir
Genetic Background: involves: 129 * C57BL/6

 MP:0000410 waved hair "hair or fur having undulations or a sinusoidal shape" [J:47620]
Show

Allelic Composition: Il6sttm1Thir/Il6sttm1Thir
Genetic Background: involves: 129 * C57BL/6

 MP:0000825 dilated lateral ventricles "increase over the normal size of the horseshoe-shaped cavities of the cerebrum" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, MGI:CLS, J:38857]
Show

Allelic Composition: Itgb2tm2Bay/Itgb2tm2Bay
Genetic Background: B6.129S7-Itgb2tm2Bay

 MP:0000827 dilated third ventricle "enlarged narrow cleft inferior to the corpus callosum, within the diencephalon, between the paired thalami; its floor is formed by the hypothalamus, its anterior wall by the lamina terminalis, and its roof by ependyma; it communicates with the fourth ventricle by the cerebral aqueduct, and with the lateral ventricles by the interventricular foramina" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator, MeSH:National Library of Medicine - Medical Subject Headings , 2003]
Show

Allelic Composition: Itgb2tm2Bay/Itgb2tm2Bay
Genetic Background: B6.129S7-Itgb2tm2Bay

 MP:0001265 reduced body size "smaller than average body weight, height and/or length of an organism compared to controls" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, J:23170]
Show

Allelic Composition: Il6sttm1Thir/Il6sttm1Thir
Genetic Background: involves: 129 * C57BL/6

 MP:0001274 curly vibrissae "whiskers twisted into coils or spirals" [J:47620]
Show

Allelic Composition: Il6sttm1Thir/Il6sttm1Thir
Genetic Background: involves: 129 * C57BL/6

 MP:0001364 decreased anxiety-related response "when compared to controls, subjects exhibit fewer responses thought to be indicative of anxiety in behavioral tests" [cwg:Carroll-Ann W. Goldsmith, Mouse Genome Informatics curator, J:86626, J:85438, J:64043]
Show

Allelic Composition: Itgb2tm2Bay/Itgb2tm2Bay
Genetic Background: B6.129S7-Itgb2tm2Bay

 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]
Show

Allelic Composition: Itgb2tm2Bay/Itgb2tm2Bay
Genetic Background: B6.129S7-Itgb2tm2Bay

 MP:0001415 increased exploration in new environment "greater amount of time spent investigating new location" [J:28825]
Show

Allelic Composition: Itgb2tm2Bay/Itgb2tm2Bay
Genetic Background: B6.129S7-Itgb2tm2Bay

 MP:0001463 abnormal spatial learning "defects in the abilibity to navigate using behavioraly meaningful locations" [CFG:Center for Functional Genomics , Northwestern University]
Show

Allelic Composition: Itgb2tm2Bay/Itgb2tm2Bay
Genetic Background: B6.129S7-Itgb2tm2Bay

 MP:0001891 hydroencephaly "excessive accumulation of cerebrospinal fluid in the brain, especially the cerebral ventricles, often leading to increased brain size and other brain trauma" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, MeSH:National Library of Medicine - Medical Subject Headings, 2003]
Show

Allelic Composition: Itgb2tm2Bay/Itgb2tm2Bay
Genetic Background: B6.129S7-Itgb2tm2Bay

 MP:0001935 reduced litter size "fewer live born pups in a litter compared to average" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
Show

Allelic Composition: Il6sttm1Thir/Il6sttm1Thir
Genetic Background: involves: 129 * C57BL/6

 MP:0002061 aggression-related behavior "domineering, assaultive or forceful physical action" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
Show

Allelic Composition: Itgb2tm2Bay/Itgb2tm2Bay
Genetic Background: B6.129S7-Itgb2tm2Bay

 MP:0002083 premature death "death after 3 weeks of age, but before normal life span" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
Show

Allelic Composition: Itgb2tm2Bay/Itgb2tm2Bay
Genetic Background: B6.129S7-Itgb2tm2Bay

 MP:0002675 asthenozoospermia "loss or reduction of the mobility of the spermatozoa, frequently associated with infertility" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, pvb:Pierre Vanden Borre , Mouse Genome Informatics Curator]
Show

Allelic Composition: Kitlsl-du/Kitlsl-du
Genetic Background: C3H/HeJ-Kitlsl-du

 MP:0002797 thigmotaxis "preference of a mouse for the side walls of a cage or box; usually an indicator of increased anxiety response" [J:56814]
Show

Allelic Composition: Itgb2tm2Bay/Itgb2tm2Bay
Genetic Background: B6.129S7-Itgb2tm2Bay

 MP:0002912 abnormal excitatory postsynaptic potential "defect in the potential detected in postsynaptic cells when an excitatory impulse arrives at the synapse causing depolarization" [Principles of Neural Science , 3rd edition:ISBN 0-8385-8034-3]
Show

Allelic Composition: Itgb2tm2Bay/Itgb2tm2Bay
Genetic Background: B6.129S7-Itgb2tm2Bay

 MP:0003107 abnormal response to novelty "alteration in amount of exploration/investigation of a novel object, situation or environment" [CFG:Center for Functional Genomics, Northwestern University]
Show

Allelic Composition: Itgb2tm2Bay/Itgb2tm2Bay
Genetic Background: B6.129S7-Itgb2tm2Bay

 MP:0003863 decreased aggression towards mice "when compared to controls, subjects exhibit less than normal level of domineering, assaultive posture and/or hostile physical action towards other mice" [monikat:Monika Tomczuk, Mouse Genome Informatics Curator]
Show

Allelic Composition: Itgb2tm2Bay/Itgb2tm2Bay
Genetic Background: B6.129S7-Itgb2tm2Bay

 MP:0004924 abnormal behavior "anomalies in the actions, reactions, or performance of an organism in response to external or internal stimuli compared to controls" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Itgb2tm2Bay/Itgb2tm2Bay
Genetic Background: B6.129S7-Itgb2tm2Bay

 MP:0005238 increased brain size "larger than the normal physical proportions of the brain" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator, J:57958]
Show

Allelic Composition: Itgb2tm2Bay/Itgb2tm2Bay
Genetic Background: B6.129S7-Itgb2tm2Bay

 MP:0006254 thin cerebral cortex "decreased depth of the mantle covering the surface of the cerebral hemispheres" [smb:Susan M Bello, Mouse Genome Informatics Curator, J:84683]
Show

Allelic Composition: Itgb2tm2Bay/Itgb2tm2Bay
Genetic Background: B6.129S7-Itgb2tm2Bay

 MP:0008143 abnormal dendrite morphology "any structural anomaly of the highly branched tree-like process of a neuron that serves as a receptive field and conducts impulses toward the cell body" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator", MGI:rbabiuk "Randall Babiuk, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Itgb2tm2Bay/Itgb2tm2Bay
Genetic Background: B6.129S7-Itgb2tm2Bay

Allelic Composition: Ophn1tm1Bill/Y
Genetic Background: Not Specified

 MP:0010231 transverse fur striping "presence of stripes of pigmented hair, usually black, of variable degree and location in the coat" [MGI:llw2 "Linda Washburn, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Il6sttm1Thir/Il6sttm1Thir
Genetic Background: involves: 129 * C57BL/6

 MP:0011110 partial preweaning lethality "the appearance of lower than Mendelian ratios of organisms of a given genotype due to death of some, but not all of the organisms between fertilization and weaning age (Mus: approximately 3-4 weeks of age)" [MGI:csmith]
Show

Allelic Composition: Kitlsl-du/Kitlsl-du
Genetic Background: C3H/HeJ-Kitlsl-du

  


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






 

0 s.

 
External programs and data are copyrighted by and are the property of their respective authors.
The Manteia system, data and analyses are provided "as is" with no warranties, expressed or implied as to capabilities or accuracy. User assumes the entire risk as to the results and performance of the software, data and documentation


                   

© Olivier Tassy / Olivier Pourquie 2007-2024
contact: otassy@igbmc.fr