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FLASH GENE
Symbol EFHC1 contributors: mct - updated : 10-05-2010
HGNC name EF-hand domain (C-terminal) containing 1
HGNC id 16406
Corresponding disease
EJM1 myoclonic epilepsy, juvenile, 1
Location 6p12.2      Physical location : 52.284.993 - 52.360.581
Synonym name
  • myoclonin 1
  • hypothetical protein FLJ10466
    • Synonym symbol(s) FLJ10466, EJM, FLJ37290, JAE, dJ304B14.2
    DNA
    TYPE functioning gene
    STRUCTURE 75.59 kb     11 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status provisional
    Map pter - D6S1714 - D6S1956 - EFHC1 - D6S1623 - D6S1960 - cen
    Authors Onuchic (02)
    Physical map
    LOC389397 6 hypothetical gene supported by BC000383; BC004432; NM_152857 LOC391926 6 similar to 40S ribosomal protein S15a PKHD1 6p12.2 polycystic kidney and hepatic disease 1 (autosomal recessive) IL17 2q31 interleukin 17 (cytotoxic T-lymphocyte-associated serine esterase 8) IL17F 6p12 interleukin 17F SLC25A20P 6p12 solute carrier family 25 (carnitine/acylcarnitine translocase), member 20 pseudogene MCM3 6p12 MCM3 minichromosome maintenance deficient 3 (S. cerevisiae) C6orf33 6p12.1 chromosome 6 open reading frame 33 EFHC1 6p12.1 EF-hand domain (C-terminal) containing 1 TRAM2 6p21.3 translocation associated membrane protein 2 TMEM14A 6p12.3 transmembrane protein 14A LOC391927 6 similar to class-alpha glutathione S-transferase LOC391928 6 similar to Glutathione S-transferase A1 (GTH1) (HA subunit 1) (GST-epsilon) (GSTA1-1) (GST class-alpha) GSTA2 6p12.2 glutathione S-transferase A2 LOC391929 6 similar to glutathione transferase (EC 2.5.1.18) alpha-3 [similarity] - human GSTA1 6p12.2 glutathione S-transferase A1 GSTAP1 6p12.2 glutathione S-transferase A pseudogene 1 GSTA5 6p12.1 glutathione S-transferase A5 FLJ32293 6p12.3 hypothetical protein FLJ32293 GSTA3 6p12 glutathione S-transferase A3 GSTA4 6p12 glutathione S-transferase A4 RN7SK 6pter-p25 RNA, 7SK, nuclear ICK 6p12.3-p11.2 intestinal cell (MAK-like) kinase FBXO9 6p12.3-p11.2 F-box only protein 9 GCM1 6p21-p12 glial cells missing homolog 1 (Drosophila) LOC389398 6 LOC389398 ELOVL5 6p21.1-p12.1 ELOVL family member 5, elongation of long chain fatty acids (FEN1/Elo2, SUR4/Elo3-like, yeast) LOC391930 6 similar to ribosomal protein L31 LOC391931 6 similar to replication protein A3, 14kDa; replication protein A3 (14kD)
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    13 splicing 5508 - 621 - -
    10 splicing 6853 - - - -
    no protein described
    11 - 5596 - 640 - 2008 18593566
    EXPRESSION
    Type widely
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Cardiovascularheart   highly
    Digestiveliver   highly
    Endocrinepancreas   highly
    Nervousbraindiencephalonamygdala highly
     brainbasal nucleicaudate nucleus highly
     brainbasal nucleicorpus callosum highly
     braindiencephalonthalamus highly
    Reproductivefemale systemplacenta  highly
    Respiratorylung   moderately
    Urinarykidney   highly
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Nervousneuron
    Reproductivespermatozoa
    cell lineage
    cell lines
    fluid/secretion sperm flagella
    at STAGE
    physiological period embryo, fetal
    Text kidney, liver, lung, brain, lexus choroid in embryo
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • three tandemly repeated DM10 domains, of unclear function
  • C-terminus (AAs 403-640, named EFHC1C), comprising the last DM10 domain and the EF-hand motif (EFHC1C dimerization blocks Ca(2+) and Mg(2+) binding)
    • HOMOLOGY
    interspecies ortholog to Efhc1, Mus musculus
    ortholog to efhc1, Rattus norvegicus
    ortholog to EFHC1, Pan troglodytes
    ortholog to efhc1, Danio rerio
    intraspecies homolog to calmodulin
    Homologene
    FAMILY
  • EF-hand-containing calcium binding protein
    • CATEGORY regulatory
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,cytoskeleton,microtubule,centrosome
    intracellular,cytoplasm,cytoskeleton,microtubule,mitotic spindle
    text
  • associates with the mitotic spindle through its N-terminus
  • concentrated in the cilia of ependymal cells at ventricle walls
  • is a MAP associated to the centrosome
    • basic FUNCTION
  • plays a role in calcium homeostasis
  • having calcium ion binding activity and apoptotic activity
  • may enhance calcium influx through CACNA1E and stimulate programmed cell death
  • involved in cell division and brain development
  • involved in ciliary functions
  • involved in the regulation of cell division and neuronal migration during cortical development
  • essential for normal assembly and function of mitotic spindle and for neuronal migration
    • CELLULAR PROCESS cell cycle, division
    cell life, cell death/apoptosis
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule metal binding,
  • Ca2+
    • protein
  • R-type voltage dependent calcium channel
  • C-terminus of CACNA1E
  • alpha-tubulin through microtubule-binding domain (MTBD) located at its N terminus
    • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) EJM1
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • Efhc1-deficient mice are normal in outward appearance and both sexes are fertile but the ventricles of the brains are significantly enlarged in the null mutants, but not in the heterozygotes
  • EFHC1 loss of function in HEK293 cells induced mitotic spindle defects, disruption of M phase progression, microtubule bundling and increased apoptosis
  • EFHC1 impairment in the rat developing neocortex by ex vivo and in utero electroporation caused a marked disruption of radial migration