ENSMUSG00000041809


Mus musculus

Features
Gene ID: ENSMUSG00000041809
  
Biological name :Efhc1
  
Synonyms : EF-hand domain containing 1 / Efhc1
  
Possible biological names infered from orthology : Q5JVL4
  
Species: Mus musculus
  
Chr. number: 1
Strand: 1
Band: A4
Gene start: 20951626
Gene end: 20990841
  
Corresponding Affymetrix probe sets: 10345046 (MoGene1.0st)   1453159_at (Mouse Genome 430 2.0 Array)   
  
Cross references: Ensembl peptide - ENSMUSP00000042343
NCBI entrez gene - 71877     See in Manteia.
MGI - MGI:1919127
RefSeq - NM_027974
RefSeq - XM_006495576
RefSeq Peptide - NP_082250
swissprot - B2CKC6
Ensembl - ENSMUSG00000041809
  
See expression report in BioGPS
See gene description in Wikigenes
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 efhc1ENSDARG00000009743Danio rerio
 EFHC1ENSGALG00000016674Gallus gallus
 EFHC1ENSG00000096093Homo sapiens


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
Efhc2 / Q9D485 / EF-hand domain-containing family member C2 / Q5JST6* / EF-hand domain containing 2*ENSMUSG0000002503834


Protein motifs (from Interpro)
Interpro ID Name
 IPR002048  EF-hand domain
 IPR006602  Uncharacterised domain DM10
 IPR010554  Domain of unknown function DUF1126
 IPR011992  EF-hand domain pair


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0000281 mitotic cytokinesis IEA
 biological_processGO:0007052 mitotic spindle organization IEA
 biological_processGO:0021795 cerebral cortex cell migration IEA
 biological_processGO:0051302 regulation of cell division IEA
 cellular_componentGO:0000922 spindle pole IEA
 cellular_componentGO:0005813 centrosome IEA
 cellular_componentGO:0072686 mitotic spindle IEA
 molecular_functionGO:0005509 calcium ion binding IEA
 molecular_functionGO:0043014 alpha-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: Airetm1Ptsn/Airetm1Ptsn
Genetic Background: C57BL/6-Airetm1Ptsn

Allelic Composition: Efhc1tm1Kzy/Efhc1+
Genetic Background: B6.129P2-Efhc1tm1Kzy

 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: Airetm1Ptsn/Airetm1Ptsn
Genetic Background: C57BL/6-Airetm1Ptsn

Allelic Composition: Efhc1tm1Kzy/Efhc1+
Genetic Background: B6.129P2-Efhc1tm1Kzy

 MP:0008283 small hippocampus "reduced size of the deep lying structure of the cerebrum involved with memory storage and spatial navigation" [ISBN:0-12-402035-6 "Kaufman, MH The Atlas of Mouse Development", MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Airetm1Ptsn/Airetm1Ptsn
Genetic Background: C57BL/6-Airetm1Ptsn

 MP:0011069 abnormal brain ependyma motile cilium physiology "any functional anomaly 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"]
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Allelic Composition: Airetm1Ptsn/Airetm1Ptsn
Genetic Background: C57BL/6-Airetm1Ptsn

 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: Airetm1Ptsn/Airetm1Ptsn
Genetic Background: C57BL/6-Airetm1Ptsn

  


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






 

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