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Efhc1
Gene Detail
 Symbol
Name
ID
Efhc1
EF-hand domain (C-terminal) containing 1
MGI:1919127
Synonyms 1700029F22Rik, mRib72-1, myoclonin1
Feature Type protein coding gene
Genetic Map
Chromosome 1
6.50 cM, cytoband A5
Detailed Genetic Map ± 1 cM


Mapping data(2)
Sequence Map
Chr1:20951626-20990838 bp, + strand
From VEGA annotation of GRCm38

  39213 bp   ±  kb flank

VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer


Mouse Genome Browser
Vertebrate
homology
HomoloGene:10003  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 cattle; 1 dog; 1 chicken; 1 zebrafish

Gene Tree: Efhc1

Human
homologs
Human Homolog EFHC1, EF-hand domain (C-terminal) containing 1
NCBI Gene ID 114327
neXtProt AC  NX_Q5JVL4
Human Synonyms  dJ304B14.2, EJM1
Human Chr (Location)  6p12.3; chr6:52420196-52495785 (+)  GRCh38
Disease Associations  (2) Diseases Associated with Human EFHC1
Alleles
and
phenotypes
All alleles(2) : Targeted(2)
Incidental mutations (data from Mutagenetix , APF )
 
Mice homozygous or heterozygous for a null mutation display myoclonus and increased susceptibility to pharmacologically induced seizures. Homozygous mice also display enlarged brain ventricles and reduced hippocampal size.
 
Human Diseases Modeled Using Mouse Efhc1 (1)    Alleles Annotated to Human Diseases(1)   
Gene Ontology
(GO)
classifications
All GO classifications: (7 annotations)
Process cellular calcium ion homeostasis, positive regulation of apoptotic process
Component axoneme, cilium, ...
Function calcium ion binding, protein C-terminus binding
External Resources: FuncBase
Expression
Literature Summary: (3 records)
Data Summary: Results (121)    Tissues (26)    Images (18)
Theiler Stages: 16, 18, 21, 22, 23, 25, 26, 28
Assay TypeResults
Immunohistochemistry 25
RNA in situ 67
Northern blot 10
Western blot 19
cDNA source data(19)
External Resources: Allen Institute   GEO   ArrayExpress
Molecular
reagents
All nucleic(19) cDNA(19)
Microarray probesets(3)
Other database
links
VEGA Gene ModelOTTMUSG00000029838 (Evidence)
Ensembl Gene ModelENSMUSG00000041809 (Evidence)
Entrez Gene71877 (Evidence)
UniGene29178
DFCITC1585227
DoTSDT.40163981
NIA Mouse Gene IndexU000091
Consensus CDS ProjectCCDS48227.1
International Mouse Knockout Project StatusEfhc1
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000029838 VEGA Gene Model | MGI Sequence Detail 39213 C57BL/6J ±  kb
transcript OTTMUST00000074047 VEGA | MGI Sequence Detail 2143 Not Applicable 
polypeptide OTTMUSP00000038413 VEGA | MGI Sequence Detail 648 Not Applicable 

For the selected sequences
All sequences(22) RefSeq(4) UniProt(2)
Polymorphisms SNPs within 2kb(309 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
InterPro IPR002048 EF-hand domain
InterPro IPR011992 EF-hand-like domain
InterPro IPR010554 Protein of unknown function DUF1126
InterPro IPR006602 Uncharacterised domain DM10
Protein Ontology PR:000006915 EF-hand domain-containing protein 1
References (Earliest) J:65060 Kawai J, et al., Functional annotation of a full-length mouse cDNA collection. Nature. 2001 Feb 8;409(6821):685-90
(Latest) J:188921 de Nijs L, et al., Mutations of EFHC1, linked to juvenile myoclonic epilepsy, disrupt radial and tangential migrations during brain development. Hum Mol Genet. 2012 Dec 1;21(23):5106-17
All references(35)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
07/15/2014
MGI 5.18
The Jackson Laboratory