| Type | Description |
|---|---|
| Definition | DEP domain containing 5 |
| Date | Results | Publications |
|---|---|---|
| 2019-09-14 11:45:00 | Second-hit mosaic mutation in mTORC1 repressor DEPDC5 causes focal cortical dysplasia-associated epilepsy. | 29708508 |
| 2019-06-29 11:08:00 | Heterozygous mice appeared to be normal and we found no evidence of increased susceptibility to seizures or tumorigenesis. Together, these data support mTORC1 hyperactivation as the likely pathogenic mechanism that underpins DEPDC5 loss of function in humans and highlights the potential utility of mTORC1 inhibitors in the treatment of DEPDC5-associated epilepsy | 28974734 |
| 2019-06-22 10:45:00 | Study reports the generation and characterization of a neuron-specific Depdc5 mouse model, Depdc5flox/flox-Syn1Cre (Depdc5cc+), which displays a larger brain size, early mortality, lowered seizure threshold, evidence of mTOR hyperactivation, ectopic neurons in the hippocampus, and dysplastic neurons in the cortex. | 29274432 |
| 2019-06-01 11:09:00 | The DEPDC5 depletion in adult skeletal muscle removes GATOR1 inhibition of mTORC1, resulting in muscle hypertrophy and increased mitochondrial respiration, but does not improve overall muscle quality and function. | 30635399 |
| Type | IDs |
|---|---|
| Synonymous | AV016528 |
| Gene |
UniProtKB-ID:
DEPD5_MOUSE,
E9QAT3_MOUSE,
Q8BVE2_MOUSE,
Q6GQV2_MOUSE
UniprotKB:
P61460,
E9QAT3,
Q8BVE2,
Q6GQV2
UniParc:
UPI00005641A8,
UPI00002178F5,
UPI00003B5655,
UPI00000EA912,
UPI00001C337E
EMBL:
BC072604,
AK129180,
AC108773,
AK078771,
AC122203
Ensembl:
ENSMUSG00000037426
KO:
mmu:277854
|
| Nucleutide sequences |
EMBL-CDS:
BAC97990.1,
BAC37385.1,
AAH72604.1
Ensembl_TRS:
ENSMUST00000119705,
ENSMUST00000120902,
ENSMUST00000049780,
ENSMUST00000087897
|
| Protein sequencees |
Ensembl_PRO:
ENSMUSP00000113980,
ENSMUSP00000113862,
ENSMUSP00000052807,
ENSMUSP00000085207
RefSeq:
XP_030110414.1,
XP_006504044.1,
XP_030110413.1,
NP_001020597.1,
XP_036021056.1,
XP_006504050.1,
XP_036021053.1,
XP_036021055.1,
XP_030110412.1,
XP_006504048.1,
XP_036021057.1,
XP_006504046.1,
XP_030110410.1,
NP_808454.2,
XP_006504041.1,
NP_001164038.1,
NP_001346943.1,
XP_006504043.1,
XP_006504049.1,
XP_006504042.1,
XP_030110415.1,
XP_036021054.1,
XP_006504047.1,
XP_006504045.1,
XP_006504051.1
|
| Others |
UniRef100:
UniRef100_Q8BVE2,
UniRef100_P61460,
UniRef100_Q6GQV2,
UniRef100_E9QAT3
UniRef90:
UniRef90_P61460,
UniRef90_E9QAT3,
UniRef90_Q8BVE2
UniRef50:
UniRef50_A0A0S7G3Z0,
UniRef50_O75140
UniGene:
Mm.101524
CCDS:
CCDS51463.1
|
| {{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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