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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
Chr1:20951626-20990841 bp, + strand
From VEGA annotation of GRCm38

  39216 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 western clawed frog; 1 zebrafish

HCOP human homology predictions: EFHC1
Gene Tree: Efhc1

Human
homologs
EFHC1, EF-hand domain (C-terminal) containing 1
Orthology source: HomoloGene

IDs:
NCBI Gene ID: 114327
neXtProt AC: NX_Q5JVL4

Human Synonyms: dJ304B14.2, EJM1

Human Chr (Location): 6p12.3; chr6:52420196-52495785 (+)  GRCh38.p2

Disease Associations: (2) Diseases Associated with Human EFHC1

Mutations,
alleles, and
phenotypes
All mutations/alleles(2) : Targeted(2)
Incidental mutations (data from Mutagenetix , APF , CvDC )
 
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 in Mice Using Efhc1 (1)    Mutations Annotated to Human Diseases (1)   
Interactions
Efhc1 interacts with 44 markers (Mir24-1, Mir24-2, Mir27a, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (13 annotations)
Process cellular calcium ion homeostasis, cerebral cortex cell migration, ...
Component axoneme, cell, ...
Function calcium ion binding, protein C-terminus binding
External Resources: FuncBase
Expression
Literature Summary: (3 records)
Data Summary: Results (121)    Tissues (28)    Images (18)    Tissue x Stage Matrix (view)
Assay TypeResults
Immunohistochemistry 25
RNA in situ 67
Northern blot 10
Western blot 19
cDNA source data(19)
Other mouse links: Allen Institute   GEO   Expression Atlas
Other vertebrate links: Xenbase efhc1 ; ZFIN efhc1    NEW 
Molecular
reagents
All nucleic(19) cDNA(19)
Microarray probesets(3)
Other database
links
VEGA Gene Model OTTMUSG00000029838 (Evidence)
Ensembl Gene Model ENSMUSG00000041809 (Evidence)
Entrez Gene 71877 (Evidence)
UniGene 29178
DFCI TC1585227
DoTS DT.40163981
NIA Mouse Gene Index U000091
Consensus CDS Project CCDS48227.1
International Mouse Phenotyping Consortium Status Efhc1
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000029838 VEGA Gene Model | MGI Sequence Detail 39216 C57BL/6J ±  kb
transcript OTTMUST00000074047 VEGA | MGI Sequence Detail 2146 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(36)
Disease annotation references (1)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
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last database update
07/21/2015
MGI 5.22
The Jackson Laboratory