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Aliases for EFHC1 Gene

Aliases for EFHC1 Gene

  • EF-Hand Domain Containing 1 2 3
  • EF-Hand Domain (C-Terminal) Containing 1 2 3 5
  • Myoclonin-1 2 3 4
  • Epilepsy, Juvenile Myoclonic 1 2
  • DJ304B14.2 3
  • EJM1 3

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 Containing 1) is a Protein Coding gene. Diseases associated with EFHC1 include myoclonic epilepsy, juvenile 1 and epilepsy, juvenile absence 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

Promoters for EFHC1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around EFHC1 on UCSC Golden Path with GeneCards custom track

Genomic Location for EFHC1 Gene

Chromosome:
6
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

Genes around EFHC1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
EFHC1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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 & Families for EFHC1 Gene

Gene Families for EFHC1 Gene

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 :
  • Contains 3 DM10 domains.
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).
genes like me logo Genes that share phenotypes with EFHC1: view

Human Phenotype Ontology for EFHC1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for EFHC1 Gene

MGI Knock Outs for EFHC1:

Animal Model Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Transcription Factor Targets 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 5
cytosol 3
plasma membrane 3
endoplasmic reticulum 1
extracellular 1
mitochondrion 1
nucleus 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for EFHC1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005930 axoneme ISS --
genes like me logo Genes that share ontologies with EFHC1: view

Pathways & Interactions for EFHC1 Gene

SuperPathways for EFHC1 Gene

No Data Available

Gene Ontology (GO) - Biological Process for EFHC1 Gene

None

No data available for Pathways by source and SIGNOR curated interactions for EFHC1 Gene

Drugs & Compounds for EFHC1 Gene

(1) Drugs for EFHC1 Gene - From: Novoseek and HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
calcium Nutra 0
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:

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

Protein differential expression in normal tissues from HIPED for EFHC1 Gene

This gene is overexpressed in Plasma (40.0) and Testis (23.2).

Integrated Proteomics: protein expression in normal tissues and cell lines 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 expression patterns with EFHC1: view

Protein tissue co-expression partners for EFHC1 Gene

- Elite partner

Primer Products

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
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
chimpanzee
(Pan troglodytes)
Mammalia EFHC1 35
  • 99.64 (n)
  • 99.69 (a)
EFHC1 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Efhc1 35
  • 83.07 (n)
  • 84.53 (a)
oppossum
(Monodelphis domestica)
Mammalia EFHC1 36
  • 68 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia EFHC1 36
  • 67 (a)
OneToOne
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
tropical clawed frog
(Silurana tropicalis)
Amphibia efhc1 35
  • 64.57 (n)
  • 66.11 (a)
Str.9549 35
African clawed frog
(Xenopus laevis)
Amphibia Xl.11087 35
zebrafish
(Danio rerio)
Actinopterygii efhc1 35
  • 55.6 (n)
  • 53.03 (a)
zgc63931 35
efhc1 36
  • 52 (a)
OneToOne
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

(1) 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
rs149055334 Juvenile myoclonic epilepsy 1 (EJM1) 52,424,111(+) GCCAA(A/C)CTAAA nc-transcript-variant, reference, missense
rs3804506 - 52,438,493(-) ACCCC(A/C/G)GTCAT nc-transcript-variant, reference, missense
rs3804505 - 52,438,563(-) CAACG(C/T)GGAAA nc-transcript-variant, reference, missense
VAR_023622 Juvenile myoclonic epilepsy 1 (EJM1)
rs79761183 Juvenile myoclonic epilepsy 1 (EJM1) 52,452,776(+) TCTTC(A/G)TAAGT nc-transcript-variant, reference, missense

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

Variation tolerance for EFHC1 Gene

Residual Variation Intolerance Score: 88.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 6.40; 77.08% of all genes are more intolerant (likely to be disease-causing)

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

MalaCards: The human disease database

(7) MalaCards diseases for EFHC1 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
myoclonic epilepsy, juvenile 1
  • janz syndrome
epilepsy, juvenile absence 1
  • epilepsy, juvenile absence, susceptibility to, 1
efhc1-related juvenile myoclonic epilepsy
juvenile absence epilepsy
  • childhood absence epilepsy
idiopathic generalized epilepsy
  • generalised epilepsy
- elite association - COSMIC cancer census association via MalaCards
Search EFHC1 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

EFHC1_HUMAN
  • 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. {ECO:0000305 PubMed:17159113}. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry.
  • 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.
  • 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}.

Relevant External Links for EFHC1

Genetic Association Database (GAD)
EFHC1
Human Genome Epidemiology (HuGE) Navigator
EFHC1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
EFHC1
genes like me logo Genes that share disorders with EFHC1: view

No data available for Genatlas for EFHC1 Gene

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 67
  2. Mutational analysis of EFHC1 gene in Italian families with juvenile myoclonic epilepsy. (PMID: 17634063) Annesi F. … Quattrone A. (Epilepsia 2007) 3 23
  3. 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
  4. EFHC1, a protein mutated in juvenile myoclonic epilepsy, associates with the mitotic spindle through its N-terminus. (PMID: 16824517) de Nijs L. … Chanas G. (Exp. Cell Res. 2006) 3 23
  5. 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

Products for EFHC1 Gene

Sources for EFHC1 Gene

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