ENSMUSG00000058070


Mus musculus

Features
Gene ID: ENSMUSG00000058070
  
Biological name :Eml1
  
Synonyms : Echinoderm microtubule-associated protein-like 1 / Eml1 / Q05BC3
  
Possible biological names infered from orthology : O00423
  
Species: Mus musculus
  
Chr. number: 12
Strand: 1
Band: F1
Gene start: 108370957
Gene end: 108539617
  
Corresponding Affymetrix probe sets: 10398240 (MoGene1.0st)   1428321_at (Mouse Genome 430 2.0 Array)   
  
Cross references: Ensembl peptide - ENSMUSP00000118325
Ensembl peptide - ENSMUSP00000057209
Ensembl peptide - ENSMUSP00000105483
Ensembl peptide - ENSMUSP00000105486
NCBI entrez gene - 68519     See in Manteia.
MGI - MGI:1915769
RefSeq - XM_017315172
RefSeq - NM_001043336
RefSeq - NM_001286346
RefSeq - NM_001286347
RefSeq - XM_017315168
RefSeq - XM_017315169
RefSeq - XM_017315170
RefSeq - XM_017315171
RefSeq - NM_001043335
RefSeq Peptide - NP_001273276
RefSeq Peptide - NP_001036800
RefSeq Peptide - NP_001036801
RefSeq Peptide - NP_001273275
swissprot - Q05BC3
swissprot - D6RII3
swissprot - D3Z4J9
Ensembl - ENSMUSG00000058070
  
See expression report in BioGPS
See gene description in Wikigenes
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 eml1ENSDARG00000042840Danio rerio
 ENSGALG00000039735Gallus gallus
 ENSGALG00000043661Gallus gallus
 EML1ENSG00000066629Homo sapiens


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
Eml2 / Q7TNG5 / Mus musculus echinoderm microtubule associated protein like 2 (Eml2), transcript variant 3, mRNA. / O95834* / echinoderm microtubule associated protein like 2*ENSMUSG0000004081163
Eml4 / echinoderm microtubule-associated protein-like 4 isoform 4 / Q9HC35* / echinoderm microtubule associated protein like 4*ENSMUSG0000003262454
Eml3 / Q8VC03 / Echinoderm microtubule-associated protein-like 3 / Q32P44*ENSMUSG0000007164749
Eml6 / Q5SQM0 / Echinoderm microtubule-associated protein-like 6 / Q6ZMW3*ENSMUSG0000004407231
Eml5 / Q8BQM8 / Echinoderm microtubule-associated protein-like 5 / Q05BV3*ENSMUSG0000005116630
Cfap44 / cilia and flagella associated protein 44 / Q96MT7*ENSMUSG0000007155019


Protein motifs (from Interpro)
Interpro ID Name
 IPR001680  WD40 repeat
 IPR005108  HELP
 IPR011042  Six-bladed beta-propeller, TolB-like
 IPR011047  Quinoprotein alcohol dehydrogenase-like superfamily
 IPR015943  WD40/YVTN repeat-like-containing domain superfamily
 IPR017986  WD40-repeat-containing domain
 IPR019775  WD40 repeat, conserved site


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0000226 microtubule cytoskeleton organization IMP
 biological_processGO:0002244 hematopoietic progenitor cell differentiation IGI
 biological_processGO:0007052 mitotic spindle organization IMP
 biological_processGO:0007405 neuroblast proliferation IMP
 biological_processGO:0007420 brain development IEA
 cellular_componentGO:0005737 cytoplasm IEA
 cellular_componentGO:0005829 cytosol IDA
 cellular_componentGO:0005856 cytoskeleton IEA
 cellular_componentGO:0005874 microtubule IEA
 cellular_componentGO:0015630 microtubule cytoskeleton IEA
 cellular_componentGO:0048471 perinuclear region of cytoplasm IEA
 cellular_componentGO:0097431 mitotic spindle pole IMP
 cellular_componentGO:1990023 mitotic spindle midzone IMP
 molecular_functionGO:0005515 protein binding IEA
 molecular_functionGO:0008017 microtubule binding IEA
 molecular_functionGO:0015631 tubulin binding IEA


Pathways (from Reactome)
Pathway description
No match


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 MP:0000243 myoclonus "involuntary shock-like contractions, variable in rhythm and amplitude, followed by relaxation, of a muscle or a group of muscles; generally due to a central nervous system lesion" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, MeSH:National Library of Medicine - Medical Subject Headings , 2003]
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Allelic Composition: Mef2atm1.1Limm/Mef2atm1.1Limm,Mef2dtm3Eno/Mef2dtm3Eno,Tg(GFAP-cre)25Mes/0
Genetic Background: involves: 129S/SvEv * C57BL/6 * FVB/N

 MP:0000422 delayed hair appearance "late onset of the first appearance of the fur" [J:17792]
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Allelic Composition: Mef2atm1.1Limm/Mef2atm1.1Limm,Mef2dtm3Eno/Mef2dtm3Eno,Tg(GFAP-cre)25Mes/0
Genetic Background: involves: 129S/SvEv * C57BL/6 * FVB/N

 MP:0000438 abnormal skull morphology "anomalous structure or development of the cranium" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
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Allelic Composition: Mef2atm1.1Limm/Mef2atm1.1Limm,Mef2dtm3Eno/Mef2dtm3Eno,Tg(GFAP-cre)25Mes/0
Genetic Background: involves: 129S/SvEv * C57BL/6 * FVB/N

 MP:0000789 thickened cerebral cortex "Increased depth of the mantle coveringthe surface of the cerebral hemispheres" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, J:49481]
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Allelic Composition: Mef2atm1.1Limm/Mef2atm1.1Limm,Mef2dtm3Eno/Mef2dtm3Eno,Tg(GFAP-cre)25Mes/0
Genetic Background: involves: 129S/SvEv * C57BL/6 * FVB/N

 MP:0000913 abnormal brain development "malformed or incomplete differentiation of the brain" [MGI:cls, J:49840]
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Allelic Composition: Wnt5ab2b3077.1Clo/Wnt5ab2b3077.1Clo
Genetic Background: C57BL/6J-Wnt5ab2b3077.1Clo

 MP:0001262 decreased body weight "lower than normal average weight " [J:61295]
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Allelic Composition: Mef2atm1.1Limm/Mef2atm1.1Limm,Mef2dtm3Eno/Mef2dtm3Eno,Tg(GFAP-cre)25Mes/0
Genetic Background: involves: 129S/SvEv * C57BL/6 * FVB/N

 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: Mef2atm1.1Limm/Mef2atm1.1Limm,Mef2dtm3Eno/Mef2dtm3Eno,Tg(GFAP-cre)25Mes/0
Genetic Background: involves: 129S/SvEv * C57BL/6 * FVB/N

 MP:0001290 delayed eyelid opening "late average time for the first postnatal eye opening" [J:17792]
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Allelic Composition: Mef2atm1.1Limm/Mef2atm1.1Limm,Mef2dtm3Eno/Mef2dtm3Eno,Tg(GFAP-cre)25Mes/0
Genetic Background: involves: 129S/SvEv * C57BL/6 * FVB/N

 MP:0001392 abnormal locomotor activity "altered ability or inability to move from place to place" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Mef2atm1.1Limm/Mef2atm1.1Limm,Mef2dtm3Eno/Mef2dtm3Eno,Tg(GFAP-cre)25Mes/0
Genetic Background: involves: 129S/SvEv * C57BL/6 * FVB/N

 MP:0001402 hypoactivity "reduced movement from one place to another" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, csmith:Cynthia L. Smith , Mouse Genome Informatics Curator, J:64289]
Show

Allelic Composition: Mef2atm1.1Limm/Mef2atm1.1Limm,Mef2dtm3Eno/Mef2dtm3Eno,Tg(GFAP-cre)25Mes/0
Genetic Background: involves: 129S/SvEv * C57BL/6 * FVB/N

 MP:0002064 seizures "sudden and often acute manifestation of epileptic attack, sometimes convulsive" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Mef2atm1.1Limm/Mef2atm1.1Limm,Mef2dtm3Eno/Mef2dtm3Eno,Tg(GFAP-cre)25Mes/0
Genetic Background: involves: 129S/SvEv * C57BL/6 * FVB/N

 MP:0002862 altered righting response "altered ability or changed amount of time needed to recover from supine position" [hdene:Howard Dene , Mouse Genome Informatics Curator]
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Allelic Composition: Mef2atm1.1Limm/Mef2atm1.1Limm,Mef2dtm3Eno/Mef2dtm3Eno,Tg(GFAP-cre)25Mes/0
Genetic Background: involves: 129S/SvEv * C57BL/6 * FVB/N

 MP:0002906 susceptibility to pharmacologically induced seizures "inability to withstand doses of pharmacological drugs that induce seizure activity in normal animals" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator, J:69504]
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Allelic Composition: Mef2atm1.1Limm/Mef2atm1.1Limm,Mef2dtm3Eno/Mef2dtm3Eno,Tg(GFAP-cre)25Mes/0
Genetic Background: involves: 129S/SvEv * C57BL/6 * FVB/N

 MP:0003203 increased neuron apoptosis "increase in the number of neurons undergoing programmed cell death" [RGD:Rat Genome Database submission]
Show

Allelic Composition: Wnt5ab2b3077.1Clo/Wnt5ab2b3077.1Clo
Genetic Background: C57BL/6J-Wnt5ab2b3077.1Clo

 MP:0003313 abnormal locomotor activation "altered ability or desire of an animal to initiate locomotor activity" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
Show

Allelic Composition: Mef2atm1.1Limm/Mef2atm1.1Limm,Mef2dtm3Eno/Mef2dtm3Eno,Tg(GFAP-cre)25Mes/0
Genetic Background: involves: 129S/SvEv * C57BL/6 * FVB/N

 MP:0003648 abnormal radial glial cell morphology "anomalous structure, number, or composition of the supporting cells of the developing central nervous system that guide neuronal migration during development and exchange metabolites with developing and migrating neurons; these cells differentiate into astrocytes and some neuronal types in the adult" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Wnt5ab2b3077.1Clo/Wnt5ab2b3077.1Clo
Genetic Background: C57BL/6J-Wnt5ab2b3077.1Clo

 MP:0004948 abnormal neuronal precursor proliferation "any anomaly in the ability of a neuroblast population to undergo rapid expansion by cell division" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Wnt5ab2b3077.1Clo/Wnt5ab2b3077.1Clo
Genetic Background: C57BL/6J-Wnt5ab2b3077.1Clo

 MP:0005156 bradykinesia "decreased spontaneity and movement" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:83301]
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Allelic Composition: Mef2atm1.1Limm/Mef2atm1.1Limm,Mef2dtm3Eno/Mef2dtm3Eno,Tg(GFAP-cre)25Mes/0
Genetic Background: involves: 129S/SvEv * C57BL/6 * FVB/N

 MP:0008457 abnormal cortical intermediate zone morphology "any structural anomaly of the region of the developing mammalian cortex that extends between the ventricular zone and the cortical plate (CP); normally, the IZ is a region of tangential migration of cells, and at midgestation, the lower part of the IZ develops into the subventricular zone" [PMID:10632599]
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Allelic Composition: Mef2atm1.1Limm/Mef2atm1.1Limm,Mef2dtm3Eno/Mef2dtm3Eno,Tg(GFAP-cre)25Mes/0
Genetic Background: involves: 129S/SvEv * C57BL/6 * FVB/N

Allelic Composition: Eml1heco/?
Genetic Background: involves: CD-1

 MP:0009760 abnormal mitotic spindle "an anomaly in the formation of the ellipsoidal (bipolar) collection of fibers visible during nuclear division and cytokinesis responsible for accurate segregation of chromosomes during mitosis" [ISBN:8185198691 "Rieger R et al Eds Glossary of Genetics Classical and Molecular"]
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Allelic Composition: Eml1heco/?
Genetic Background: involves: CD-1

 MP:0011380 enlarged brain ventricle "increased size of one or more of the four communicating cavities within the brain that are continuous with the central canal of the spinal cord" [MGI:smb]
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Allelic Composition: Mef2atm1.1Limm/Mef2atm1.1Limm,Mef2dtm3Eno/Mef2dtm3Eno,Tg(GFAP-cre)25Mes/0
Genetic Background: involves: 129S/SvEv * C57BL/6 * FVB/N

 MP:0011723 ectopic neuron "appearance of a neuron or group of neurons in a region where it is not normally found" [MGI:csmith]
Show

Allelic Composition: Eml1heco/?
Genetic Background: involves: CD-1

 MP:0011724 ectopic cortical neuron "appearance of a cerebral cortical neuron or group of cerebral cortical neurons in a region where it is not normally found" [MGI:csmith]
Show

Allelic Composition: Mef2atm1.1Limm/Mef2atm1.1Limm,Mef2dtm3Eno/Mef2dtm3Eno,Tg(GFAP-cre)25Mes/0
Genetic Background: involves: 129S/SvEv * C57BL/6 * FVB/N

Allelic Composition: Eml1heco/Eml1heco
Genetic Background: involves: C57BL/6 * NOR

 MP:0012307 impaired spatial learning "impaired ability to ascertain or acquire spatial location information in order to improve navigation or other behavior using such location cues" [MGI:csmith]
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Allelic Composition: Mef2atm1.1Limm/Mef2atm1.1Limm,Mef2dtm3Eno/Mef2dtm3Eno,Tg(GFAP-cre)25Mes/0
Genetic Background: involves: 129S/SvEv * C57BL/6 * FVB/N

 MP:0012506 brain atrophy "acquired diminution of the size of the brain associated with wasting as from death and reabsorbtion of cells, diminished cellular proliferation, decreased cellular volume, pressure, ischemia, malnutrition, reduced function or malfunction, or hormonal changes" [MGI:anna]
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Allelic Composition: Mef2atm1.1Limm/Mef2atm1.1Limm,Mef2dtm3Eno/Mef2dtm3Eno,Tg(GFAP-cre)25Mes/0
Genetic Background: involves: 129S/SvEv * C57BL/6 * FVB/N

  


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






 

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