ENSMUSG00000048799


Mus musculus

Features
Gene ID: ENSMUSG00000048799
  
Biological name :Cep120
  
Synonyms : Centrosomal protein of 120 kDa / Cep120 / Q7TSG1
  
Possible biological names infered from orthology : centrosomal protein 120 / Q8N960
  
Species: Mus musculus
  
Chr. number: 18
Strand: -1
Band: D1
Gene start: 53681724
Gene end: 53744547
  
Corresponding Affymetrix probe sets: 10458913 (MoGene1.0st)   1434023_at (Mouse Genome 430 2.0 Array)   
  
Cross references: Ensembl peptide - ENSMUSP00000062433
NCBI entrez gene - 225523     See in Manteia.
MGI - MGI:2147298
RefSeq - NM_178686
RefSeq - XM_011246906
RefSeq Peptide - NP_848801
swissprot - Q7TSG1
Ensembl - ENSMUSG00000048799
  
See expression report in BioGPS
See gene description in Wikigenes
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 cep120ENSDARG00000091326Danio rerio
 CEP120ENSGALG00000005368Gallus gallus
 CEP120ENSG00000168944Homo sapiens


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
No match


Protein motifs (from Interpro)
Interpro ID Name
 IPR000008  C2 domain
 IPR022136  Domain of unknown function DUF3668
 IPR035892  C2 domain superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0000226 microtubule cytoskeleton organization IMP
 biological_processGO:0007098 centrosome cycle IMP
 biological_processGO:0008283 cell proliferation IMP
 biological_processGO:0010825 positive regulation of centrosome duplication IMP
 biological_processGO:0021987 cerebral cortex development IMP
 biological_processGO:0022008 neurogenesis IMP
 biological_processGO:0022027 interkinetic nuclear migration IMP
 biological_processGO:0030953 astral microtubule organization IDA
 biological_processGO:0032880 regulation of protein localization IMP
 biological_processGO:0032886 regulation of microtubule-based process IMP
 biological_processGO:0045724 positive regulation of cilium assembly IMP
 cellular_componentGO:0005737 cytoplasm IEA
 cellular_componentGO:0005813 centrosome IEA
 cellular_componentGO:0005814 centriole IDA
 cellular_componentGO:0005815 microtubule organizing center IEA
 cellular_componentGO:0005856 cytoskeleton IEA
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0008022 protein C-terminus binding IPI


Pathways (from Reactome)
Pathway description
No match


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 MP:0000358 abnormal cell content/ morphology "structural anomalies of the minute protoplasmic masses that make up organized tissues and which are the fundamental structural and functional units of living organisms" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator, MeSH:National Library of Medicine - Medical Subject Headings , 2003]
Show

Allelic Composition: 2700049A03Riktm1Blnw/2700049A03Riktm1Blnw
Genetic Background: Not Specified

Allelic Composition: Cep120tm1.2Blnw/Cep120tm1.2Blnw
Genetic Background: involves: 129S6/SvEvTac * C57BL/6

 MP:0000788 abnormal cerebral cortex morphology "malformed gray cellular mantle covering the surface of the brain" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, J:38857]
Show

Allelic Composition: 2700049A03Riktm1Blnw/2700049A03Riktm1Blnw
Genetic Background: Not Specified

 MP:0000820 abnormal choroid plexus morphology "malformed or absent fringe of the tela choroidea of the cerebral ventricles" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:45302]
Show

Allelic Composition: 2700049A03Riktm1Blnw/2700049A03Riktm1Blnw
Genetic Background: Not Specified

 MP:0000851 cerebellum hypoplasia "reduced cell number in the cerebellum" [MGI:CLS, J:45302]
Show

Allelic Composition: 2700049A03Riktm1Blnw/2700049A03Riktm1Blnw
Genetic Background: Not Specified

 MP:0000852 small cerebellum "reduced size of cerebellum" [MGI:CLS, J:17203, J:67524]
Show

Allelic Composition: 2700049A03Riktm1Blnw/2700049A03Riktm1Blnw
Genetic Background: Not Specified

 MP:0000853 absent cerebellar foliation "missing small branches of the cerebellar lobules" [Principles of Neural Science , 3rd edition:ISBN 0-8385-8034-3, tc:Teresa Chu , Mouse Genome Informatics Curator, J:60896]
Show

Allelic Composition: 2700049A03Riktm1Blnw/2700049A03Riktm1Blnw
Genetic Background: Not Specified

 MP:0000854 abnormal cerebellum development "malformed or incomplete differentiation of the part of the metencephalon that lies dorsal to the pons and medulla behind the brain stem and controls balance for walking and standing, modulates the force and range of movement and is involved in the learning of motor skills " [MeSH:National Library of Medicine - Medical Subject Headings , 2003, Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8]
Show

Allelic Composition: 2700049A03Riktm1Blnw/2700049A03Riktm1Blnw
Genetic Background: Not Specified

 MP:0000873 thin external granule cell layer "reduced thickness of the transient layer of the cerebellar cortex which is composed of dividing and migrating granule cells" [tc:Teresa Chu , Mouse Genome Informatics Curator, J:60896]
Show

Allelic Composition: 2700049A03Riktm1Blnw/2700049A03Riktm1Blnw
Genetic Background: Not Specified

 MP:0001516 abnormal motor coordination/ balance "altered ability of an animal to maintain skillful and effective interaction of movements or maintenance of equilibrium" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
Show

Allelic Composition: 2700049A03Riktm1Blnw/2700049A03Riktm1Blnw
Genetic Background: Not Specified

 MP:0001730 embryonic growth arrest "the cessation of development beyond a particular stage" [J:17509]
Show

Allelic Composition: Cep120tm1.2Blnw/Cep120tm1.2Blnw
Genetic Background: involves: 129S6/SvEvTac * C57BL/6

 MP:0001732 postnatal growth retardation "slow or limited development after birth " [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
Show

Allelic Composition: 2700049A03Riktm1Blnw/2700049A03Riktm1Blnw
Genetic Background: Not Specified

 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: 2700049A03Riktm1Blnw/2700049A03Riktm1Blnw
Genetic Background: Not Specified

 MP:0002084 abnormal developmental patterning "abnormal systematic arrangement of the developing body along an axis" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
Show

Allelic Composition: Cep120tm1.2Blnw/Cep120tm1.2Blnw
Genetic Background: involves: 129S6/SvEvTac * C57BL/6

 MP:0004252 abnormal direction of looping morphogenesis "deviation from the normal rightward direction of cardiac looping" [MGI:smb "Susan M. Bello, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Cep120tm1.2Blnw/Cep120tm1.2Blnw
Genetic Background: involves: 129S6/SvEvTac * C57BL/6

 MP:0011057 absent brain ependyma motile cilia "absence of the tiny, motile hair-like projections from the epithelial cells that line the ventricles in the brain, which beat in concert and to move cerebrospinal fluid" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
Show

Allelic Composition: 2700049A03Riktm1Blnw/2700049A03Riktm1Blnw
Genetic Background: Not Specified

 MP:0011098 complete embryonic lethality during organogenesis "death of all organisms of a given genotype in a population between embryo turning and the completion of organogenesis (Mus: E9 to less than E14)" [MGI:csmith]
Show

Allelic Composition: Cep120tm1.2Blnw/Cep120tm1.2Blnw
Genetic Background: involves: 129S6/SvEvTac * C57BL/6

 MP:0012676 dilated brain ventricles "the luminal space of one or more of the four communicating cavities within the brain that are continuous with the central canal of the spinal cord is increased in volume or area, usually with an increase in contained fluid" [MGI:anna]
Show

Allelic Composition: 2700049A03Riktm1Blnw/2700049A03Riktm1Blnw
Genetic Background: Not Specified

 MP:0013551 decreased cerebellar granule cell precursor proliferation "reduction in the ability of a cerebellar granule cell precursor population to undergo rapid expansion by cell division" [MGI:csmith]
Show

Allelic Composition: 2700049A03Riktm1Blnw/2700049A03Riktm1Blnw
Genetic Background: Not Specified

  


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