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Tbio EF-hand domain-containing protein 1

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).

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]

 Comments

Property Summary

NCBI Gene PubMed Count 32
PubMed Score 44.08
PubTator Score 50.14

Knowledge Summary

Patent

No data available

TINX Plot

  Disease (6)

Disease Target Count Z-score Confidence
Juvenile myoclonic epilepsy 17 0.0 5.0
Disease Target Count Z-score Confidence
Epilepsy 346 5.534 2.8

Expression

  Differential Expression (21)

Disease log2 FC p
astrocytic glioma 2.900 1.3e-03
ependymoma 4.400 2.0e-03
oligodendroglioma 2.700 1.3e-02
psoriasis -1.100 1.7e-04
cutaneous lupus erythematosus -1.300 8.0e-04
glioblastoma 2.000 1.5e-03
osteosarcoma 2.028 1.1e-03
group 3 medulloblastoma 2.100 3.6e-06
atypical teratoid / rhabdoid tumor 1.900 7.3e-05
primitive neuroectodermal tumor 2.000 5.6e-05
tuberculosis and treatment for 6 months 1.200 7.0e-05
non-small cell lung cancer -1.027 3.9e-06
intraductal papillary-mucinous adenoma (... 1.800 2.7e-05
intraductal papillary-mucinous carcinoma... 1.600 1.0e-03
lung cancer 1.400 7.4e-04
adult high grade glioma 1.300 2.9e-03
pilocytic astrocytoma 1.200 4.9e-06
nasopharyngeal carcinoma -1.600 2.7e-03
Pick disease 1.200 5.9e-04
ovarian cancer -2.800 2.0e-12
chronic rhinosinusitis -1.633 2.2e-02

Synonym

Accession Q5JVL4 B4DMU3 F5GZD8 Q5XKM4 Q6E1U7 Q6E1U8 Q8WUL2 Q9NVW6
Symbols EJM1
dJ304B14.2

Gene

EFHC1

  Ortholog (2)

Species Source Disease
Chimp OMA EggNOG
Mouse OMA EggNOG Inparanoid Epilepsy, Juvenile Absence, Susceptibility To, 1 [Monarch]

 UniProt Keyword (9)

 GO Function (2)

 GO Component (5)

 GO Process (1)

 Compartment GO Term (31)

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 OMIM Phenotype (2)

 MGI Phenotype (4)

 GWAS Trait (1)

 HCA RNA Cell Line (56)

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Pathway (1)

Protein-protein Interaction (3)

HAUS1   HAUS4   BRAP  

Gene RIF (24)

PMID Text
25489633 some EFHC1 mutations may be pathogenic only when introduced into specific genetic backgrounds to juvenile myoclonic epilepsy
23756481 Three SNP alleles in BRD2, Cx-36, and ME2 and microdeletions in 15q13.3, 15q11.2, and 16p13.11 also contribute risk to juvenile myclonic epilepsy.
23756480 Myoclonin1/EFHC1 mutation was suggested releated to juvenile myoclonic epilepsy.
22926142 These results show how Myoclonin1/EFHC1 mutations disrupt brain development and potentially produce structural brain abnormalities on which epileptogenesis is established.
22727576 we conclude that mutations in the Myoclonin1/EFHC1 gene are an important cause of juvenile myoclonic epilepsy in Mexican patients.
22690745 homozygous Phe229Leu mutation associated with primary intractable epilepsy in infancy
22226147 The juvenile myoclonic epilepsy-related protein EFHC1 interacts with the redox-sensitive TRPM2 channel linked to cell death.
20379614 Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
20201926 Observational study and genome-wide association study of gene-disease association. (HuGE Navigator)
18823326 The results of this study show that four coding SNPs, rs3804506, rs3804505, rs1266787, and rs17851770, of EFHC1 may not be susceptibility alleles for juvenile myoclonic epilepsy.
18823326 Observational study of gene-disease association. (HuGE Navigator)
18593566 Under reducing condition Ca(2+) or Mg(2+) ions bind to EFHC1C in a 1/1 molar ratio, while under oxidizing condition this ratio is reduced, showing that EFHC1C dimerization blocks Ca(2+) and Mg(2+) binding
18505993 Nine percent of consecutive juvenile myoclonic epilepsy cases from Mexico and Honduras clinics and 3% of clinic patients from Japan carry mutations in Myoclonin1/EFCH1
17972043 In this case of juvenile myoclonic epilepsy, A molecular genetic analysis led to the identification of a polymorphism (A-->G) in position 10 in the intron 3 (rs949626) of the EFHC1 gene.
17634063 report presents one novel and one previously described mutation in the EFHC1 gene in Italian families, reinforcing the role of this gene in juvenile myoclonic epilepsy
17159113 Mutations in the EFHC1 gene may underlie different types of epilepsy syndromes.
17054699 We found no evidence that EFHC1 is a major genetic risk factor for JME susceptibility in Dutch patients.
16839746 Observational study of gene-disease association. (HuGE Navigator)
16824517 Deletion analyses revealed that the N-terminal region of EFHC1 is crucial for the association with the mitotic spindle and the midbody. Our results suggest that EFHC1 could play an important role during cell division.
16378686 Observational study of gene-disease association. (HuGE Navigator)
16378686 The combination of these polymorphisms could not be found in any control individuals, suggesting that they might be involved in genetic predisposition to migraine in this family.
15258581 Observational study of genotype prevalence. (HuGE Navigator)
15258581 Mutation analyses identified five missense mutations in EFHC1 that cosegregated with epilepsy or EEG polyspike wave in affected members of six unrelated families with JME and did not occur in 382 control individuals
14582146 Observational study of gene-disease association. (HuGE Navigator)

AA Sequence 

MVSNPVHGLPFLPGTSFKDSTKTAFHRSQTLSYRNGYAIVRRPTVGIGGDRLQFNQLSQAELDELASKAP      1 - 70
VLTYGQPKQAPPADFIPAHVAFDKKVLKFDAYFQEDVPMSTEEQYRIRQVNIYYYLEDDSMSVIEPVVEN     71 - 140
SGILQGKLIKRQRLAKNDRGDHYHWKDLNRGINITIYGKTFRVVDCDQFTQVFLESQGIELNPPEKMALD    141 - 210
PYTELRKQPLRKYVTPSDFDQLKQFLTFDKQVLRFYAIWDDTDSMYGECRTYIIHYYLMDDTVEIREVHE    211 - 280
RNDGRDPFPLLMNRQRVPKVLVENAKNFPQCVLEISDQEVLEWYTAKDFIVGKSLTILGRTFFIYDCDPF    281 - 350
TRRYYKEKFGITDLPRIDVSKREPPPVKQELPPYNGFGLVEDSAQNCFALIPKAPKKDVIKMLVNDNKVL    351 - 420
RYLAVLESPIPEDKDRRFVFSYFLATDMISIFEPPVRNSGIIGGKYLGRTKVVKPYSTVDNPVYYGPSDF    421 - 490
FIGAVIEVFGHRFIILDTDEYVLKYMESNAAQYSPEALASIQNHVRKREAPAPEAESKQTEKDPGVQELE    491 - 560
ALIDTIQKQLKDHSCKDNIREAFQIYDKEASGYVDRDMFFKICESLNVPVDDSLVKELIRMCSHGEGKIN    561 - 630
YYNFVRAFSN                                                                631 - 640
//

Text Mined References (32)

PMID Year Title
25489633 2015 Pathogenic EFHC1 mutations are tolerated in healthy individuals dependent on reported ancestry.
25416956 2014 A proteome-scale map of the human interactome network.
23756481 2013 Juvenile myoclonic epilepsy as a possible neurodevelopmental disease: role of EFHC1 or Myoclonin1.
23756480 2013 The quest for juvenile myoclonic epilepsy genes.
22926142 2012 Mutations of EFHC1, linked to juvenile myoclonic epilepsy, disrupt radial and tangential migrations during brain development.
22727576 2012 Novel Myoclonin1/EFHC1 mutations in Mexican patients with juvenile myoclonic epilepsy.
22690745 2012 Intractable epilepsy of infancy due to homozygous mutation in the EFHC1 gene.
22226147 2012 The juvenile myoclonic epilepsy-related protein EFHC1 interacts with the redox-sensitive TRPM2 channel linked to cell death.
20379614 Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
20201926 2010 Human variation in alcohol response is influenced by variation in neuronal signaling genes.
19147686 2009 Efhc1 deficiency causes spontaneous myoclonus and increased seizure susceptibility.
18823326 2009 DNA variants in coding region of EFHC1: SNPs do not associate with juvenile myoclonic epilepsy.
18593566 2008 Characterization of the C-terminal half of human juvenile myoclonic epilepsy protein EFHC1: dimer formation blocks Ca2+ and Mg2+ binding to its functional EF-hand.
18505993 2008 Novel mutations in Myoclonin1/EFHC1 in sporadic and familial juvenile myoclonic epilepsy.
17972043 2007 Juvenile myoclonic epilepsy with generalised and focal electroencephalographic abnormalities: a case report with a molecular genetic study.
17634063 2007 Mutational analysis of EFHC1 gene in Italian families with juvenile myoclonic epilepsy.
17159113 2006 Idiopathic generalized epilepsy phenotypes associated with different EFHC1 mutations.
17054699 2006 Heterogeneity at the JME 6p11-12 locus: absence of mutations in the EFHC1 gene in linked Dutch families.
16839746 2006 Mutations in the GABRA1 and EFHC1 genes are rare in familial juvenile myoclonic epilepsy.
16824517 2006 EFHC1, a protein mutated in juvenile myoclonic epilepsy, associates with the mitotic spindle through its N-terminus.
16378686 2006 Exclusion of the juvenile myoclonic epilepsy gene EFHC1 as the cause of migraine on chromosome 6, but association to two rare polymorphisms in MEP1A and RHAG.
16344560 2006 Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes.
16189514 2005 Towards a proteome-scale map of the human protein-protein interaction network.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
15258581 2004 Mutations in EFHC1 cause juvenile myoclonic epilepsy.
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
14582146 2003 Candidate gene analysis of the human metabotropic glutamate receptor type 4 (GRM4) in patients with juvenile myoclonic epilepsy.
14574404 2003 The DNA sequence and analysis of human chromosome 6.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
9305351 1997 Refined mapping of the epilepsy susceptibility locus EJM1 on chromosome 6.
8737649 1996 Juvenile myoclonic epilepsy in chromosome 6p12-p11: locus heterogeneity and recombinations.
8125298 1994 Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides.