About   Help   FAQ
Efhc1 Gene Detail
Summary
  • Symbol
    Efhc1
  • Name
    EF-hand domain (C-terminal) containing 1
  • Synonyms
    1700029F22Rik, mRib72-1, myoclonin1
  • Feature Type
    protein coding gene
  • IDs
    MGI:1919127
    NCBI Gene: 71877
  • Gene Overview
    MyGene.info: EFHC1
  • Alliance
  • Transcription Start Sites
    4 TSS
Location &
Maps
more
  • Sequence Map
    Chr1:20951626-20990841 bp, + strand
  • From Ensembl annotation of GRCm38

    View this region in JBrowse

  • Genome Browsers
  • Genetic Map
    Chromosome 1, 6.50 cM, cytoband A5
  • Mapping Data
    2 experiments
Strain
Comparison
more
  • SNPs within 2kb
    306 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1919127
protein coding gene Chr1:20951550-20990841 (.)
129S1/SvImJ MGP_129S1SvImJ_G0015874
protein coding gene Chr1:18580256-18622922 (+)
A/J MGP_AJ_G0015855
protein coding gene Chr1:18360368-18399092 (+)
AKR/J MGP_AKRJ_G0015814
protein coding gene Chr1:18399462-18437047 (+)
BALB/cJ MGP_BALBcJ_G0015811
protein coding gene Chr1:18053113-18092529 (+)
C3H/HeJ MGP_C3HHeJ_G0015645
protein coding gene Chr1:18423130-18467410 (+)
C57BL/6NJ MGP_C57BL6NJ_G0016265
protein coding gene Chr1:19449075-19487195 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0013986
protein coding gene Chr1:16497676-16537656 (+)
CAST/EiJ MGP_CASTEiJ_G0015226
protein coding gene Chr1:18520017-18563987 (+)
CBA/J MGP_CBAJ_G0015618
protein coding gene Chr1:19893440-19935828 (+)
DBA/2J MGP_DBA2J_G0015717
protein coding gene Chr1:17854158-17893961 (+)
FVB/NJ MGP_FVBNJ_G0015722
protein coding gene Chr1:17616026-17655023 (+)
LP/J MGP_LPJ_G0015789
protein coding gene Chr1:18805986-18858557 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0015740
protein coding gene Chr1:20840185-20882535 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0016312
protein coding gene Chr1:18377290-18418710 (+)
PWK/PhJ MGP_PWKPhJ_G0015010
protein coding gene Chr1:17588044-17627901 (+)
SPRET/EiJ MGP_SPRETEiJ_G0014791
protein coding gene Chr1:18465208-18501977 (+)
WSB/EiJ MGP_WSBEiJ_G0015289
protein coding gene Chr1:18307811-18344596 (+)



Homology
more
  • Human Ortholog
    EFHC1, EF-hand domain containing 1
  • Vertebrate Orthologs
    10
  • Human Ortholog
    EFHC1, EF-hand domain containing 1
    Orthology source: HGNC, HomoloGene
  • Synonyms
    dJ304B14.2, EJM1
  • Links
    NCBI Gene ID: 114327
    neXtProt AC: NX_Q5JVL4
    UniProt: Q5JVL4

  • Chr Location
    6p12.2; chr6:52420196-52495785 (+)  GRCh38.p7

  • HomoloGene
    Vertebrate Homology Class 10003
    1 human;1 mouse;1 rat;1 chimpanzee;1 cattle;1 dog;1 chicken;1 zebrafish;1 frog, western clawed;1 macaque, rhesus
  • HCOP
    human homology predictions: EFHC1
  • Gene Tree
Human Diseases
more
  • Diseases
    1 with Efhc1 mouse models; 2 with human EFHC1 associations

Human Disease Mouse Models
      
IDs
View 2 models
      
IDs
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    1 with disease annotations
  • References
    1 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    5 phenotypes from 1 allele in 1 genetic background
    5 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
immune system
integument
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
neoplasm
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
vision/eye

Click cells to view annotations.
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.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
  • GO References
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
RNA binding
signaling receptor activity
signaling receptor binding
transcription
transferase
transporter
Biological Process

carbohydrate derivative metabolism
cell death
cell differentiation
cell population proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
nucleic acid-templated transcription
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
synapse
vacuole
Click cells to view annotations.
Expression
less
Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
  • Tissues
  • cDNA Data
  • Literature Summary
  • Comparison Matrix
  • Interactions
    less
    Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000041809 Ensembl Gene Model | MGI Sequence Detail 39216 C57BL/6J ±  kb
    transcript ENSMUST00000038447 Ensembl | MGI Sequence Detail 2146 Not Applicable  
    polypeptide ENSMUSP00000042343 Ensembl | MGI Sequence Detail 648 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 20
      cDNA 20

      Microarray probesets 3
    References
    more
    • Summaries
      All 32
      Developmental Gene Expression 3
      Diseases 1
      Gene Ontology 5
      Phenotypes 5
    • 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

    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
    Citing These Resources
    Funding Information
    Warranty Disclaimer & Copyright Notice
    Send questions and comments to User Support.
    last database update
    12/04/2018
    MGI 6.13
    The Jackson Laboratory