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
Human Chr (Location)		6p12.3; chr6:52284994-52360583 (+)  GRCh37.p10
Disease Associations		(2) Diseases Associated with Human EFHC1

Alleles and phenotypes

All alleles(2) : Targeted(2)
 

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 Type	Results
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 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 Knockout Project Status	Efhc1

Sequences

Length	Strain/Species
genomic	OTTMUSG00000029838	VEGA Gene Model | MGI Sequence Detail	39213	C57BL/6J
transcript	OTTMUST00000074047	VEGA | MGI Sequence Detail	2143	Not Applicable
polypeptide	OTTMUSP00000038413	VEGA | MGI Sequence Detail	648	Not Applicable

All sequences(20) RefSeq(2) UniProt(2)

Polymorphisms

SNPs(238 from dbSNP Build 128)

Protein-related information

Resource	ID	Description
InterPro	IPR018249	EF-HAND 2
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(34)