BRAT1 (BRCA1 associated ATM activator 1)

2016-10-01  

Identity

HGNC
LOCATION
7p22.3
LOCUSID
ALIAS
BAAT1,C7orf27,NEDCAS,RMFSL
FUSION GENES

Other Information

Locus ID:

NCBI: 221927
MIM: 614506
HGNC: 21701
Ensembl: ENSG00000106009

Variants:

dbSNP: 221927
ClinVar: 221927
TCGA: ENSG00000106009
COSMIC: BRAT1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000106009ENST00000340611Q6PJG6
ENSG00000106009ENST00000421712F8WDN5

Expression (GTEx)

0
10
20
30
40
50
60
70
80
90
100

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
222795242012Genetic mapping and exome sequencing identify variants associated with five novel diseases.97
250703712014BRAT1 deficiency causes increased glucose metabolism and mitochondrial malfunction.16
294393432018Overactive BRCA1 Affects Presenilin 1 in Induced Pluripotent Stem Cell-Derived Neurons in Alzheimer's Disease.9
253198492014Compound heterozygous BRAT1 mutations cause familial Ohtahara syndrome with hypertonia and microcephaly.8
256310462015Nedd4 family interacting protein 1 (Ndfip1) is required for ubiquitination and nuclear trafficking of BRCA1-associated ATM activator 1 (BRAT1) during the DNA damage response.8
240738512013Structural basis for the BRCA1 BRCT interaction with the proteins ATRIP and BAAT1.6
272825462016BRAT1 mutations present with a spectrum of clinical severity.4
272826482016BRAT1 mutations are associated with infantile epileptic encephalopathy, mitochondrial dysfunction, and survival into childhood.3
265358772015Early-Onset Severe Encephalopathy with Epilepsy: The BRAT1 Gene Should Be Added to the List of Causes.2
274806632016BRAT1-associated neurodegeneration: Intra-familial phenotypic differences in siblings.1

Citation

Dessen P

BRAT1 (BRCA1 associated ATM activator 1)

Atlas Genet Cytogenet Oncol Haematol. 2016-10-01

Online version: http://atlasgeneticsoncology.org/gene/56397/brat1-(brca1-associated-atm-activator-1)