Property Summary

NCBI Gene PubMed Count 16
Grant Count 6
R01 Count 4
Funding $274,599.17
PubMed Score 19.05
PubTator Score 10.30

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (2)

Disease log2 FC p
breast carcinoma 1.700 0.009
lung adenocarcinoma 1.300 0.000

Gene RIF (6)

PMID Text
26535877 We conclude that BRAT1 should be added to the growing list of genes related to early-onset severe encephalopathy with epilepsy.
25631046 Ndfip1 is required during stress for ubiquitinating and trafficking BRAT1 into the nucleus.
25319849 Our results further support that mutations of BRAT1 could lead to epileptic encephalopathy.
25070371 Findings suggest novel roles of BRAT1 in cell proliferation and mitochondrial functions.
24073851 Data on crystal structure of BRCA1 binding with phosphopeptides suggest that C-terminal domain of BRCA1 interacts with BAAT1 and ATRIP with preferences for specific side chains; in BAAT1, phospho-Ser269 and Phe272 are the main interacting residues.
22279524 Study identified sequence variants in the known disease-causing genes SLC6A3 and FLVCR1, and present evidence to strongly support the pathogenicity of variants identified in TUBGCP6, BRAT1, SNIP1, CRADD, and HARS.

AA Sequence

MDPECAQLLPALCAVLVDPRQPVADDTCLEKLLDWFKTVTEGESSVVLLQEHPCLVELLSHVLKVQDLSS      1 - 70
GVLSFSLRLAGTFAAQENCFQYLQQGELLPGLFGEPGPLGRATWAVPTVRSGWIQGLRSLAQHPSALRFL     71 - 140
ADHGAVDTIFSLQGDSSLFVASAASQLLVHVLALSMRGGAEGQPCLPGGDWPACAQKIMDHVEESLCSAA    141 - 210
TPKVTQALNVLTTTFGRCQSPWTEALWVRLSPRVACLLERDPIPAAHSFVDLLLCVARSPVFSSSDGSLW    211 - 280
ETVARALSCLGPTHMGPLALGILKLEHCPQALRTQAFQVLLQPLACVLKATVQAPGPPGLLDGTADDATT    281 - 350
VDTLLASKSSCAGLLCRTLAHLEELQPLPQRPSPWPQASLLGATVTVLRLCDGSAAPASSVGGHLCGTLA    351 - 420
GCVRVQRAALDFLGTLSQGTGPQELVTQALAVLLECLESPGSSPTVLKKAFQATLRWLLSSPKTPGCSDL    421 - 490
GPLIPQFLRELFPVLQKRLCHPCWEVRDSALEFLTQLSRHWGGQADFRCALLASEVPQLALQLLQDPESY    491 - 560
VRASAVTAMGQLSSQGLHAPTSPEHAEARQSLFLELLHILSVDSEGFPRRAVMQVFTEWLRDGHADAAQD    561 - 630
TEQFVATVLQAASRDLDWEVRAQGLELALVFLGQTLGPPRTHCPYAVALPEVAPAQPLTEALRALCHVGL    631 - 700
FDFAFCALFDCDRPVAQKSCDLLLFLRDKIASYSSLREARGSPNTASAEATLPRWRAGEQAQPPGDQEPE    701 - 770
AVLAMLRSLDLEGLRSTLAESSDHVEKSPQSLLQDMLATGGFLQGDEADCY                       771 - 821
//

Text Mined References (26)

PMID Year Title
26535877 2015 Early-Onset Severe Encephalopathy with Epilepsy: The BRAT1 Gene Should Be Added to the List of Causes.
25657994 The Potential Role of BRCA1-Associated ATM Activator-1 (BRAT1) in Regulation of mTOR.
25631046 2015 Nedd4 family interacting protein 1 (Ndfip1) is required for ubiquitination and nuclear trafficking of BRCA1-associated ATM activator 1 (BRAT1) during the DNA damage response.
25319849 2014 Compound heterozygous BRAT1 mutations cause familial Ohtahara syndrome with hypertonia and microcephaly.
25070371 2014 BRAT1 deficiency causes increased glucose metabolism and mitochondrial malfunction.
24073851 2013 Structural basis for the BRCA1 BRCT interaction with the proteins ATRIP and BAAT1.
23251661 2012 Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
23186163 2013 Toward a comprehensive characterization of a human cancer cell phosphoproteome.
22977523 2011 Functional interaction of BRCA1/ATM-associated BAAT1 with the DNA-PK catalytic subunit.
22279524 2012 Genetic mapping and exome sequencing identify variants associated with five novel diseases.
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