| Type | Description |
|---|---|
| Definition | BRCA1 associated ATM activator 1 |
| Date | Results | Publications |
|---|---|---|
| 2020-12-19 13:46:00 | BRAT1 encephalopathy: a recessive cause of epilepsy of infancy with migrating focal seizures. | 31868227 |
| 2019-10-05 12:03:00 | A first reported case of Chinese origin was identified with a BRAT1 mutation linked to lethal neonatal rigidity and multifocal seizure syndrome. | 30346566 |
| 2019-06-01 10:34:00 | The neuropathology is extensively discussed and hypotheses put forward that may shed light on etiology of brain symptomatology within the context of BRAT1 mutations | 30786674 |
| 2019-03-30 10:57:00 | Using primary fibroblasts and neurons reprogrammed from induced pluripotent stem cells derived from familial Alzheimer's disease (FAD) patients, studied role of BRCA1 protein underlying molecular neurodegeneration. Whole-transcriptome approach showed disturbances in cell cycle and DNA damage response in FAD fibroblasts; increased BRCA1 Ser1524 phosphorylated and abnormal PSEN1 ubiquitination and subcellular distribution. | 29439343 |
| 2017-12-02 11:57:00 | Biallelic sequence variants in BRAT1 have been reported to cause a variety of ocular and systemic manifestations, but to our knowledge, this is the first report of inner retinal dysfunction manifest as selective loss of full-field ERG scotopic and photopic b-wave amplitudes. | 28635423 |
| Type | IDs |
|---|---|
| Synonymous | BAAT1, C7orf27, NEDCAS, RMFSL |
| Gene |
UniProtKB-ID:
BRAT1_HUMAN
UniprotKB:
Q6PJG6
UniParc:
UPI000022D1E3,
UPI00001AEB20,
UPI0000EE769F
EMBL:
BC040704,
CH236953,
AL133088,
BC023561,
AC092488,
CH471144,
BC007209,
AK024482,
BC015632
Ensembl:
ENSG00000106009
KO:
hsa:221927
|
| Nucleutide sequences |
EMBL-CDS:
AAH15632.2,
EAW87257.1,
EAL23957.1,
AAH23561.2,
BAB15772.1,
EAW87258.1,
AAH40704.1,
CAB61405.1,
AAH07209.1
Ensembl_TRS:
ENST00000340611
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000339637
RefSeq:
XP_011513486.1,
NP_001337556.1,
XP_011513488.1,
XP_016867325.1,
XP_011513484.1,
XP_011513479.1,
XP_024302450.1,
XP_011513480.1,
XP_011513483.1,
XP_011513485.1,
XP_011513481.1,
XP_016867322.1,
NP_001337555.1,
NP_689956.2,
XP_016867323.1
|
| Others |
UniRef100:
UniRef100_Q6PJG6
UniRef90:
UniRef90_Q6PJG6
UniRef50:
UniRef50_Q6PJG6
UniGene:
Hs.520623
CCDS:
CCDS5334.1
|
| {{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