| Type | Description |
|---|---|
| Definition | TBC1 domain family, member 24 |
| Date | Results | Publications |
|---|---|---|
| 2020-04-18 10:19:00 | F251L knock-in mice, and the homozygous mutants show increased neuronal excitability, spontaneous seizure and pre-mature death. | 32004315 |
| 2020-03-14 12:25:00 | This is the first characterization of a mouse model of human TBC1D24-associated EIEE that can now be used to screen for antiepileptogenic drugs ameliorating TBCID24 seizure disorders. | 30602030 |
| 2019-06-22 10:42:00 | We then further investigated TBC1D24 haploinsufficiency in vivo and demonstrate that TBC1D24 is also crucial for normal presynaptic function: genetic disruption of Tbc1d24 expression in the mouse leads to an impairment of endocytosis and an enlarged endosomal compartment in neurons with a decrease in spontaneous neurotransmission. | 30335140 |
| 2015-01-24 12:24:00 | that the p.Ser178Leu mutation of TBC1D24 is a probable cause for dominant, nonsyndromic hearing impairment. Identification of TBC1D24 as the stereocilia-expressing gene may shed new light on its specific function in the inner ear. | 24729547 |
| 2010-10-23 10:43:00 | Two compound heterozygous missense mutations (D147H and A509V) in TBC1D24, a gene of unknown function, are responsible for familial infantile myoclonic epilepsy. | 20727515 |
| Type | IDs |
|---|---|
| Synonymous | 9630033P11, C530046L02Rik, mKIAA1171 |
| Gene |
UniProtKB-ID:
TBC24_MOUSE
UniprotKB:
Q3UUG6
UniParc:
UPI00000EB958,
UPI0000D8B414
EMBL:
BC094417,
AK086293,
AK084693,
BC080845,
AK161054,
AK147647,
AK049754,
AK083833,
AK138431,
AK049306,
AK129304
Ensembl:
ENSMUSG00000036473
KO:
mmu:224617
|
| Nucleutide sequences |
EMBL-CDS:
BAC39644.1,
BAE28046.1,
BAC39035.1,
BAC33904.1,
AAH94417.1,
BAC33671.1,
BAE23659.1,
AAH80845.1,
BAC98114.1,
BAE36174.1,
BAC39255.1
Ensembl_TRS:
ENSMUST00000201805,
ENSMUST00000040474,
ENSMUST00000201301,
ENSMUST00000201960,
ENSMUST00000168410,
ENSMUST00000097376,
ENSMUST00000171189,
ENSMUST00000201089,
ENSMUST00000167791,
ENSMUST00000202925,
ENSMUST00000168378
|
| Protein sequencees |
Ensembl_PRO:
ENSMUSP00000036458,
ENSMUSP00000144575,
ENSMUSP00000144208,
ENSMUSP00000143883,
ENSMUSP00000128001,
ENSMUSP00000128868,
ENSMUSP00000143949,
ENSMUSP00000144250,
ENSMUSP00000126107,
ENSMUSP00000094989,
ENSMUSP00000127005
RefSeq:
NP_001157322.1,
NP_001157325.1,
NP_001157320.1,
NP_001157323.1,
NP_001157324.1,
NP_001157319.1,
NP_775278.3,
NP_001157321.1
|
| Others |
UniRef100:
UniRef100_Q3UUG6
UniRef90:
UniRef90_Q3UUG6
UniRef50:
UniRef50_Q3UUG6
UniGene:
Mm.301585
CCDS:
CCDS28477.1,
CCDS50012.1
|
| {{proteinIndex+1}} | mRNA | Protein | UniprotKB | Description | ||||
|---|---|---|---|---|---|---|---|---|
| Refseq |
{{protein.nucleotideVersion}}
Ensembl: {{protein.nucleotideEnsembl}} |
{{protein.proteinVersion}}
Ensembl: {{protein.proteinEnsembl}} |
{{uniprot}} , |
Definition: {{{protein.definition}}}Transcript Veriant:{{protein.transcriptVeriant}} Status: {{protein.status}} |
||||
| 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}} - |
{{conservedDomain.comments == '' || conservedDomain.comments == null ? "-" : conservedDomain.comments }} |
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}} - |
{{conservedDomain.comments == '' || conservedDomain.comments == null ? "-" : conservedDomain.comments }} |
||||
暂无数据
| 排名 | 科研单位 | 文献 |
|---|---|---|
| {{affIndex+1}} |
{{aff.value}} |
{{aff.size}} |
目前还没有研究热点单位
| 排名 | 研究人员 | 文献 |
|---|---|---|
| {{authorIndex+1}} |
{{author.value}} |
{{author.size}} |
目前还没有研究热点人员