| Type | Description |
|---|---|
| Definition | EF-hand domain containing 1 |
| Date | Results | Publications |
|---|---|---|
| 2018-04-14 12:05:00 | EFHC1 mutations cause microtubule-associated defects in juvenile myoclonic epilepsy | 28370826 |
| 2017-12-16 11:34:00 | NHGRI gene-level evidence and variant-level evidence establish EFHC1 as the first non-ion channel microtubule-associated protein whose mutations disturb R-type VDCC and TRPM2 calcium currents in overgrown synapses and dendrites within abnormally migrated dislocated neurons, thus explaining CTC convulsions and "microdysgenesis" neuropathology of juvenile myoclonic epilepsy | 27467453 |
| 2015-05-09 12:38:00 | some EFHC1 mutations may be pathogenic only when introduced into specific genetic backgrounds to juvenile myoclonic epilepsy | 25489633 |
| 2014-02-01 10:08:00 | 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. | 23756481 |
| 2014-02-01 10:08:00 | Myoclonin1/EFHC1 mutation was suggested releated to juvenile myoclonic epilepsy. | 23756480 |
| Type | IDs |
|---|---|
| Synonymous | EJM1, dJ304B14.2 |
| Gene |
UniProtKB-ID:
EFHC1_HUMAN,
B2CKC5_HUMAN
UniprotKB:
Q5JVL4,
B2CKC5
UniParc:
UPI00000732A7,
UPI0000141099,
UPI0001C4B5AF
EMBL:
EU520261,
AY608689,
BC020210,
AY608690,
AL049611,
AK297632,
CH471081,
AK001328,
AL136125
Ensembl:
ENSG00000096093
KO:
hsa:114327
|
| Nucleutide sequences |
EMBL-CDS:
AAT67419.1,
AAH20210.1,
BAA91628.1,
AAT67418.1,
BAG60005.1,
EAX04370.1,
ACB20691.1
Gene_ORFName:
hCG_21196
Ensembl_TRS:
ENST00000371068,
ENST00000538167,
ENST00000636954,
ENST00000636489
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000489966,
ENSP00000360107,
ENSP00000444521,
ENSP00000489998
RefSeq:
NP_060570.2,
NP_001165891.1
|
| Others |
UniRef100:
UniRef100_Q5JVL4
UniRef90:
UniRef90_Q5JVL4
UniRef50:
UniRef50_Q5JVL4
UniGene:
Hs.403171
CCDS:
CCDS4942.1,
CCDS55021.1
|
| {{proteinIndex+1}} | mRNA | Protein | UniprotKB | Description | ||||
|---|---|---|---|---|---|---|---|---|
| Refseq |
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| Conserved domain | Region: {{conservedDomain.region == '' || conservedDomain.region == null ? "-": conservedDomain.region}} GFID: {{conservedDomain.gfid == '' || conservedDomain.gfid == null ? "-": conservedDomain.gfid}} Family: {{conservedDomain.family == '' || conservedDomain.family == null ? "-": conservedDomain.family}} CDD: {{conservedDomain.cdd}} - |
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