Free for academic non-profit institutions. Other users need a Commercial license

Aliases for EFHC1 Gene

Aliases for EFHC1 Gene

  • EF-Hand Domain (C-Terminal) Containing 1 2 3
  • Myoclonin-1 2 3 4
  • EJM1 3 6
  • EF-Hand Domain-Containing Protein 1 3
  • Epilepsy, Juvenile Myoclonic 1 2
  • DJ304B14.2 3
  • FLJ10466 6
  • EJA1 6
  • JAE 6

External Ids for EFHC1 Gene

Previous HGNC Symbols for EFHC1 Gene

  • EJM1
  • EJM

Previous GeneCards Identifiers for EFHC1 Gene

  • GC00U991099
  • GC06U900420
  • GC06P052331
  • GC06P052393
  • GC06P052116
  • GC06P052284

Summaries for EFHC1 Gene

Entrez Gene Summary for EFHC1 Gene

  • This gene encodes an EF-hand-containing calcium binding protein. The encoded protein likely plays a role in calcium homeostasis. Mutations in this gene have been associated with susceptibility to juvenile myoclonic epilepsy and juvenile absence epilepsy. Alternatively spliced transcript variants have been described. [provided by RefSeq, Feb 2010]

GeneCards Summary for EFHC1 Gene

EFHC1 (EF-Hand Domain (C-Terminal) Containing 1) is a Protein Coding gene. Diseases associated with EFHC1 include epilepsy, juvenile absence 1 and myoclonic epilepsy, juvenile 1. GO annotations related to this gene include calcium ion binding and protein C-terminus binding. An important paralog of this gene is EFHC2.

UniProtKB/Swiss-Prot for EFHC1 Gene

  • Necessary for radial and tangential cell migration during brain development, possibly acting as a regulator of cell morphology and process formation during migration (PubMed:22926142). May enhance calcium influx through CACNA1E and stimulate programmed cell death (PubMed:15258581).

Gene Wiki entry for EFHC1 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for EFHC1 Gene

Genomics for EFHC1 Gene

Regulatory Elements for EFHC1 Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for EFHC1 Gene

Start:
52,420,196 bp from pter
End:
52,495,785 bp from pter
Size:
75,590 bases
Orientation:
Plus strand

Genomic View for EFHC1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for EFHC1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for EFHC1 Gene

Proteins for EFHC1 Gene

  • Protein details for EFHC1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q5JVL4-EFHC1_HUMAN
    Recommended name:
    EF-hand domain-containing protein 1
    Protein Accession:
    Q5JVL4
    Secondary Accessions:
    • B4DMU3
    • F5GZD8
    • Q5XKM4
    • Q6E1U7
    • Q6E1U8
    • Q8WUL2
    • Q9NVW6

    Protein attributes for EFHC1 Gene

    Size:
    640 amino acids
    Molecular mass:
    73990 Da
    Quaternary structure:
    • Interacts with the C-terminus of CACNA1E.

    Alternative splice isoforms for EFHC1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for EFHC1 Gene

Proteomics data for EFHC1 Gene at MOPED

Post-translational modifications for EFHC1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for EFHC1 Gene

No data available for DME Specific Peptides for EFHC1 Gene

Domains for EFHC1 Gene

Gene Families for EFHC1 Gene

HGNC:
  • EFHAND :EF-hand domain containing

Protein Domains for EFHC1 Gene

Suggested Antigen Peptide Sequences for EFHC1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q5JVL4

UniProtKB/Swiss-Prot:

EFHC1_HUMAN :
  • Q5JVL4
Domain:
  • Contains 3 DM10 domains.
  • Contains 1 EF-hand domain.
genes like me logo Genes that share domains with EFHC1: view

Function for EFHC1 Gene

Molecular function for EFHC1 Gene

UniProtKB/Swiss-Prot Function: Necessary for radial and tangential cell migration during brain development, possibly acting as a regulator of cell morphology and process formation during migration (PubMed:22926142). May enhance calcium influx through CACNA1E and stimulate programmed cell death (PubMed:15258581).

Gene Ontology (GO) - Molecular Function for EFHC1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005509 calcium ion binding IEA --
GO:0005515 protein binding IPI 25416956
GO:0008022 protein C-terminus binding ISS --
genes like me logo Genes that share ontologies with EFHC1: view
genes like me logo Genes that share phenotypes with EFHC1: view

Animal Models for EFHC1 Gene

MGI Knock Outs for EFHC1:

Animal Model Products

CRISPR Products

miRNA for EFHC1 Gene

miRTarBase miRNAs that target EFHC1

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targeting and HOMER Transcription for EFHC1 Gene

Localization for EFHC1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for EFHC1 Gene

Cytoplasm, cytoskeleton, microtubule organizing center, centrosome. Cytoplasm, cytoskeleton, spindle.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for EFHC1 Gene COMPARTMENTS Subcellular localization image for EFHC1 gene
Compartment Confidence
cytoskeleton 1
cytosol 1
endoplasmic reticulum 1
extracellular 1
mitochondrion 1
nucleus 1
peroxisome 1
plasma membrane 1

Gene Ontology (GO) - Cellular Components for EFHC1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005813 centrosome IDA 22926142
GO:0005929 cilium --
GO:0005930 axoneme ISS --
GO:0043025 neuronal cell body ISS --
GO:0072686 mitotic spindle IDA 22926142
genes like me logo Genes that share ontologies with EFHC1: view

Pathways for EFHC1 Gene

SuperPathways for EFHC1 Gene

No Data Available

Gene Ontology (GO) - Biological Process for EFHC1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0021795 cerebral cortex cell migration IMP 22926142
genes like me logo Genes that share ontologies with EFHC1: view

No data available for Pathways by source for EFHC1 Gene

Compounds for EFHC1 Gene

(1) HMDB Compounds for EFHC1 Gene

Compound Synonyms Cas Number PubMed IDs
Calcium
  • Ca
7440-70-2

(1) Novoseek inferred chemical compound relationships for EFHC1 Gene

Compound -log(P) Hits PubMed IDs
calcium 10.3 1
genes like me logo Genes that share compounds with EFHC1: view

Transcripts for EFHC1 Gene

Unigene Clusters for EFHC1 Gene

EF-hand domain (C-terminal) containing 1:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for EFHC1

Primer Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for EFHC1 Gene

No ASD Table

Relevant External Links for EFHC1 Gene

GeneLoc Exon Structure for
EFHC1
ECgene alternative splicing isoforms for
EFHC1

Expression for EFHC1 Gene

mRNA expression in normal human tissues for EFHC1 Gene

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, and MOPED for EFHC1 Gene

SOURCE GeneReport for Unigene cluster for EFHC1 Gene Hs.403171

mRNA Expression by UniProt/SwissProt for EFHC1 Gene

Q5JVL4-EFHC1_HUMAN
Tissue specificity: Widely expressed. Not detected in lymphocytes.
genes like me logo Genes that share expressions with EFHC1: view

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA differential expression in normal tissues for EFHC1 Gene

Orthologs for EFHC1 Gene

This gene was present in the common ancestor of animals.

Orthologs for EFHC1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia EFHC1 35
  • 99.64 (n)
  • 99.69 (a)
EFHC1 36
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia EFHC1 35
  • 87.24 (n)
  • 89.69 (a)
EFHC1 36
  • 90 (a)
OneToOne
dog
(Canis familiaris)
Mammalia EFHC1 35
  • 89.11 (n)
  • 90.31 (a)
EFHC1 36
  • 90 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Efhc1 35
  • 83.49 (n)
  • 84.69 (a)
Efhc1 16
Efhc1 36
  • 83 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia EFHC1 36
  • 68 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia EFHC1 36
  • 67 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Efhc1 35
  • 83.07 (n)
  • 84.53 (a)
chicken
(Gallus gallus)
Aves EFHC1 35
  • 67.24 (n)
  • 67.08 (a)
EFHC1 36
  • 67 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia EFHC1 36
  • 62 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.11087 35
tropical clawed frog
(Silurana tropicalis)
Amphibia efhc1 35
  • 64.57 (n)
  • 66.11 (a)
Str.9549 35
zebrafish
(Danio rerio)
Actinopterygii efhc1 35
  • 55.6 (n)
  • 53.03 (a)
efhc1 36
  • 52 (a)
OneToOne
zgc63931 35
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP003805 35
  • 48.58 (n)
  • 44.28 (a)
worm
(Caenorhabditis elegans)
Secernentea Y49A10A.1 36
  • 24 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 58 (a)
OneToOne
Species with no ortholog for EFHC1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for EFHC1 Gene

ENSEMBL:
Gene Tree for EFHC1 (if available)
TreeFam:
Gene Tree for EFHC1 (if available)

Paralogs for EFHC1 Gene

Paralogs for EFHC1 Gene

Selected SIMAP similar genes for EFHC1 Gene using alignment to 3 proteins:

genes like me logo Genes that share paralogs with EFHC1: view

Variants for EFHC1 Gene

Sequence variations from dbSNP and Humsavar for EFHC1 Gene

SNP ID Clin Chr 06 pos Sequence Context AA Info Type MAF
rs15589 -- 52,453,303(-) TTAAT(A/G)TAACA intron-variant, nc-transcript-variant
rs15598 -- 52,453,575(+) TTATT(A/T)TGTAT intron-variant, nc-transcript-variant
rs471300 -- 52,450,521(-) aaaaa(A/C)ctaac intron-variant
rs484734 -- 52,463,614(+) gatat(A/G)tgcaa intron-variant
rs485624 -- 52,436,678(+) actct(A/G)tcacc intron-variant

Structural Variations from Database of Genomic Variants (DGV) for EFHC1 Gene

Variant ID Type Subtype PubMed ID
nsv517935 CNV Loss 19592680
nsv522674 CNV Loss 19592680

Relevant External Links for EFHC1 Gene

HapMap Linkage Disequilibrium report
EFHC1
Human Gene Mutation Database (HGMD)
EFHC1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for EFHC1 Gene

Disorders for EFHC1 Gene

(2) OMIM Diseases for EFHC1 Gene (608815)

UniProtKB/Swiss-Prot

EFHC1_HUMAN
  • Juvenile myoclonic epilepsy 1 (EJM1) [MIM:254770]: A subtype of idiopathic generalized epilepsy. Patients have afebrile seizures only, with onset in adolescence (rather than in childhood) and myoclonic jerks which usually occur after awakening and are triggered by sleep deprivation and fatigue. {ECO:0000269 PubMed:15258581, ECO:0000269 PubMed:17634063, ECO:0000269 PubMed:22690745, ECO:0000269 PubMed:22727576}. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry.
  • Juvenile absence epilepsy 1 (JAE1) [MIM:607631]: A subtype of idiopathic generalized epilepsy characterized by onset occurring around puberty, absence seizures, generalized tonic-clonic seizures (GTCS), GTCS on awakening, and myoclonic seizures. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry.
  • Note=Mutation Leu-229 may be a cause of intractable epilepsy of infancy. Affected individuals have seizures of multiple type, manifested as tonic, clonic, and myoclonic seizures in the neonatal period, and as tonic seizures activated frequently by sleep, and repeated frequent myoclonic seizures in later infancy. The seizures are unresponsive to numerous antiepileptic drugs, and infants die in the first years of life. Although heterozygosity for Leu-229 has been associated with relatively benign forms of epilepsy in adolescence, homozygosity for the same mutation has much more severe consequences. {ECO:0000269 PubMed:22690745}.

(3) Novoseek inferred disease relationships for EFHC1 Gene

Disease -log(P) Hits PubMed IDs
myoclonic epilepsy juvenile 93.9 8
epilepsy, idiopathic generalized 79.5 1
epilepsy generalized 68.8 2

Relevant External Links for EFHC1

Genetic Association Database (GAD)
EFHC1
Human Genome Epidemiology (HuGE) Navigator
EFHC1
genes like me logo Genes that share disorders with EFHC1: view

Publications for EFHC1 Gene

  1. Mutations in EFHC1 cause juvenile myoclonic epilepsy. (PMID: 15258581) Suzuki T. … Yamakawa K. (Nat. Genet. 2004) 2 3 4 48
  2. Mutations in the GABRA1 and EFHC1 genes are rare in familial juvenile myoclonic epilepsy. (PMID: 16839746) Ma S. … Hedera P. (Epilepsy Res. 2006) 3 23 48
  3. Mutational analysis of EFHC1 gene in Italian families with juvenile myoclonic epilepsy. (PMID: 17634063) Annesi F. … Quattrone A. (Epilepsia 2007) 3 4 23
  4. Juvenile myoclonic epilepsy with generalised and focal electroencephalographic abnormalities: a case report with a molecular genetic study. (PMID: 17972043) Bartocci A. … Perticoni G. (Neurol. Sci. 2007) 3 23
  5. Heterogeneity at the JME 6p11-12 locus: absence of mutations in the EFHC1 gene in linked Dutch families. (PMID: 17054699) Pinto D. … Koeleman B.P. (Epilepsia 2006) 3 23

Products for EFHC1 Gene

Sources for EFHC1 Gene

Back to Top

Content