ENSMUSG00000031654


Mus musculus

Features
Gene ID: ENSMUSG00000031654
  
Biological name :Cbln1
  
Synonyms : Cbln1 / Cerebellin-1 Cerebellin [des-Ser1]-cerebellin / Q9R171
  
Possible biological names infered from orthology : cerebellin 1 precursor / P23435
  
Species: Mus musculus
  
Chr. number: 8
Strand: -1
Band: C3
Gene start: 87468405
Gene end: 87472609
  
Corresponding Affymetrix probe sets: 10580469 (MoGene1.0st)   1423286_at (Mouse Genome 430 2.0 Array)   1423287_at (Mouse Genome 430 2.0 Array)   1423288_s_at (Mouse Genome 430 2.0 Array)   
  
Cross references: Ensembl peptide - ENSMUSP00000034076
Ensembl peptide - ENSMUSP00000126575
NCBI entrez gene - 12404     See in Manteia.
MGI - MGI:88281
RefSeq - NM_019626
RefSeq Peptide - NP_062600
swissprot - Q7TNF5
swissprot - Q9R171
Ensembl - ENSMUSG00000031654
  
See expression report in BioGPS
See gene description in Wikigenes
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 cbln1ENSDARG00000057296Danio rerio
 CBLN1ENSGALG00000042664Gallus gallus
 CBLN1ENSG00000102924Homo sapiens


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
Cbln2 / Q8BGU2 / Cerebellin-2 / Q8IUK8* / cerebellin 2 precursor*ENSMUSG0000002464777
Cbln4 / Q8BME9 / Cerebellin-4 / Q9NTU7* / cerebellin 4 precursor*ENSMUSG0000006757869
Cbln3 / Q9JHG0 / Cerebellin-3 / Q6UW01* / cerebellin 3 precursor*ENSMUSG0000004038056
Q05A80 / Caprin2 / Q6IMN6* / caprin family member 2*ENSMUSG0000003030933
Q9ES30 / C1qtnf3 / Complement C1q tumor necrosis factor-related protein 3 / Q9BXJ4* / C1QTNF3-AMACR* / C1q and TNF related 3* / C1QTNF3-AMACR readthrough (NMD candidate)*ENSMUSG0000005891431
C1ql2 / Q8CFR0 / Complement C1q-like protein 2 / Q7Z5L3* / complement C1q like 2*ENSMUSG0000003690728
C1ql3 / Q9ESN4 / Complement C1q-like protein 3 / Q5VWW1* / complement C1q like 3*ENSMUSG0000004963027
C1ql4 / Q4ZJM9 / Complement C1q-like protein 4 / Q86Z23* / complement C1q like 4*ENSMUSG0000000107626
C1ql1 / O88992 / C1q-related factor / O75973* / complement C1q like 1*ENSMUSG0000004553226
Q60865 / Caprin1 / Q14444* / cell cycle associated protein 1*ENSMUSG000000271849


Protein motifs (from Interpro)
Interpro ID Name
 IPR001073  C1q domain
 IPR008983  Tumour necrosis factor-like domain superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0007157 heterophilic cell-cell adhesion via plasma membrane cell adhesion molecules IGI
 biological_processGO:0009306 protein secretion IMP
 biological_processGO:0021707 cerebellar granule cell differentiation IGI
 biological_processGO:0051965 positive regulation of synapse assembly IGI
 biological_processGO:0090394 negative regulation of excitatory postsynaptic potential ISO
 biological_processGO:1900454 positive regulation of long term synaptic depression ISO
 cellular_componentGO:0005576 extracellular region IEA
 cellular_componentGO:0005886 plasma membrane IEA
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0030054 cell junction IEA
 cellular_componentGO:0045202 synapse IDA
 cellular_componentGO:0045211 postsynaptic membrane IEA
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0042803 protein homodimerization activity IDA


Pathways (from Reactome)
Pathway description
No match


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 MP:0000886 abnormal cerebellar granule layer "any malformation or absence of the innermost cortical layer of the cerebellum; contains densly packed small neurons, mostly granule cells with some Golgi cells are found at the outer border" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, Principles of Neural Science , 3rd edition:ISBN 0-8385-8034-3]
Show

Allelic Composition: Col4a5tm1Yseg/Y
Genetic Background: B6.Cg-Col4a5tm1Yseg

Allelic Composition: Cbln1tm1Jim/Cbln1tm1Jim,Cbln3tm1Jim/Cbln3tm1Jim
Genetic Background: involves: 129S7/SvEvBrd

 MP:0001393 ataxia "inability to coordinate voluntary muscular movements" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:67231]
Show

Allelic Composition: Col4a5tm1Yseg/Y
Genetic Background: B6.Cg-Col4a5tm1Yseg

Allelic Composition: Cbln1tm1Jim/Cbln1tm1Jim,Cbln3tm1Jim/Cbln3tm1Jim
Genetic Background: involves: 129S7/SvEvBrd

Allelic Composition: Cbln1tm1Jim/Cbln1tm1Jim,Baxtm1Sjk/Baxtm1Sjk
Genetic Background: involves: 129S7/SvEvBrd * 129X1/SvJ

 MP:0001405 impaired coordination "reduced ability to execute integrated movements of muscle" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator, Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8]
Show

Allelic Composition: Col4a5tm1Yseg/Y
Genetic Background: B6.Cg-Col4a5tm1Yseg

Allelic Composition: Cbln1tm1Jim/Cbln1tm1Jim,Cbln3tm1Jim/Cbln3tm1Jim
Genetic Background: involves: 129S7/SvEvBrd

 MP:0001406 abnormal gait "unusual or distinctive way of walking" [J:65038]
Show

Allelic Composition: Col4a5tm1Yseg/Y
Genetic Background: B6.Cg-Col4a5tm1Yseg

Allelic Composition: Cbln1tm1Jim/Cbln1tm1Jim,Cbln3tm1Jim/Cbln3tm1Jim
Genetic Background: involves: 129S7/SvEvBrd

 MP:0001898 abnormal long term depression "change from the normal, persistent activity-dependent decrease in synaptic efficacy between neurons, often following slow, weak stimulation of neurons" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator, Principles of Neural Science:ISBN 0-8385-8034-3]
Show

Allelic Composition: Col4a5tm1Yseg/Y
Genetic Background: B6.Cg-Col4a5tm1Yseg

 MP:0002066 abnormal motor capabilities/coordination/movement "altered ability to coordinate voluntary movement or repetitive, compulsive movements" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
Show

Allelic Composition: Cbln1tm1Jim/Cbln1+,Cbln3tm1Jim/Cbln3tm1Jim
Genetic Background: involves: 129S7/SvEvBrd

 MP:0002169 no phenotype detected "normal, viable and fertile appearance and behavior; indistinguishable from controls" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
Show

Allelic Composition: Cbln1tm1Jim/Cbln1+,Cbln3tm1Jim/Cbln3tm1Jim
Genetic Background: involves: 129S7/SvEvBrd

 MP:0002910 abnormal excitatory postsynaptic currents "defect in the size or duration of currents 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: Col4a5tm1Yseg/Y
Genetic Background: B6.Cg-Col4a5tm1Yseg

 MP:0003632 abnormal nervous system morphology 
Show

Allelic Composition: Cbln1tm1Jim/Cbln1tm1Jim,Cbln3tm1Jim/Cbln3tm1Jim
Genetic Background: involves: 129S7/SvEvBrd

 MP:0003894 abnormal Purkinje cell innervation "malformation or absence of the supply of nerve fibers that connect to the Purkinje cells" [smb:Susan M Bello, Mouse Genome Informatics Curator]
Show

Allelic Composition: Col4a5tm1Yseg/Y
Genetic Background: B6.Cg-Col4a5tm1Yseg

Allelic Composition: Cbln1tm1Jim/Cbln1tm1Jim,Cbln3tm1Jim/Cbln3tm1Jim
Genetic Background: involves: 129S7/SvEvBrd

 MP:0009538 abnormal synapse morphology "any strucutral anomaly of the membrane junction site of a nerve cell to a target cell, such as another nerve cell, an effector cell, or a sensory receptor cell; transmission of nerve impulses may be mediated by chemical or by electrical means" [ISBN:0-683-40008-8 "Stedman s Medical Dictionary, 27th edition", MESH:A08.850]
Show

Allelic Composition: Cdkn2atm1.1Brn/Cdkn2atm1.1Brn,Pknox1tm1Fbla/Pknox1tm1Fbla,Trp53tm1Tyj/Trp53tm1Tyj
Genetic Background: involves: 129/Sv * 129P2/OlaHsd * 129S2/SvPas * C57BL/6

Allelic Composition: Cbln1tm1.2Mmsh/Cbln1tm1.2Mmsh
Genetic Background: involves: C57BL/6

  


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






 

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