| Type | Description |
|---|---|
| Definition | EF-hand domain (C-terminal) containing 1 |
| Date | Results | Publications |
|---|---|---|
| 2017-12-16 11:34:00 | We reviewed whether variants damage EFHC1 functions, whether efhc1(-/-) KO mice recapitulate CTC convulsions and "microdysgenesis" neuropathology, and whether supernumerary synaptic and dendritic phenotypes can be rescued in the fly model when EFHC1 is overexpressed | 27467453 |
| 2014-02-01 10:08:00 | Efhc1 (-/-) mouse did not show any abnormalities such as disruption of mitotic spindle structure, impaired M-phase progression, and an increase of apoptosis. Further investigations are required to clarify these discrepancies. | 23756482 |
| 2012-06-09 10:54:00 | The juvenile myoclonic epilepsy-related protein EFHC1 interacts with the redox-sensitive TRPM2 channel linked to cell death. | 22226147 |
| 2010-05-10 11:26:00 | In the adult, low mRNA expression was detected in several brain structures such as cortex, striatum, hippocampus and cerebellum. At E16, EFHC1 mRNA was shown to be expressed in all layers of cortex and not only in cells lining ventricles. | 20015616 |
| 2010-02-15 11:34:00 | Data report the expression profile and distribution of Efhc1 messenger RNA during mouse and rat brain development, and suggest that Efhc1 expression is more important during initial phases of brain development. | 19191033 |
| Type | IDs |
|---|---|
| Synonymous | 1700029F22Rik, mRib72-1, myoclonin1 |
| Gene |
UniProtKB-ID:
EFHC1_MOUSE,
B2CKC6_MOUSE
UniprotKB:
Q9D9T8,
B2CKC6
UniParc:
UPI00000277DA,
UPI0000024705
EMBL:
EU520262,
AK006489,
AC156980
Ensembl:
ENSMUSG00000041809
KO:
mmu:71877
|
| Nucleutide sequences |
EMBL-CDS:
BAB24614.1,
ACB20692.1
Ensembl_TRS:
ENSMUST00000038447
|
| Protein sequencees |
Ensembl_PRO:
ENSMUSP00000042343
RefSeq:
NP_082250.1
|
| Others |
UniRef100:
UniRef100_Q9D9T8,
UniRef100_B2CKC6
UniRef90:
UniRef90_Q9D9T8
UniRef50:
UniRef50_Q9D9T8
UniGene:
Mm.29178
CCDS:
CCDS48227.1
|
| {{proteinIndex+1}} | mRNA | Protein | UniprotKB | Description | ||||
|---|---|---|---|---|---|---|---|---|
| Refseq |
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| Location | {{protein.contigId}} ( {{protein.positionStart}}..{{protein.positionEnd}} , {{protein.orientation}} ) | |||||||
| 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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