BRAT1

Chr 7p22.3

BRCA1 associated ATM activator 1

Aliases:: MGC22916
MANE:: ENST00000340611.9

OMIM: 614506 ↗NCBI: 221927 ↗Ensembl ↗

Annotations refreshed 9 hours ago.

Predicted protein structure

AlphaFold predicted structure

BRAT1 · Q6PJG6

v62025-08-01

Predicted Aligned Error matrix for BRAT1 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

84.8/ 100

Confident

821 residues

Confidence breakdown

Very high(≥ 90)54%
Confident(70–90)30%
Low(50–70)9%
Very low(< 50)7%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

DDG2P
BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies
BIALLELIC, autosomal or pseudoautosomal
Intellectual disability
BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

Lethal neonatal spasticity-epileptic encephalopathy syndrome
0.78
neonatal-onset encephalopathy with rigidity and seizures
0.77
neurodevelopmental disorder with cerebellar atrophy and with or without seizures
0.75
hereditary disease
0.53
Seizure
0.34
Intellectual disability
0.16
neurodevelopmental disorder
0.12
glioblastoma
0.08
esophageal squamous cell carcinoma
0.07
neoplasm
0.07

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Integrator complex assembly factor BRAT1

Component of a multiprotein complex required for the assembly of the RNA endonuclease module of the integrator complex (PubMed:39032489, PubMed:39032490). Associates with INTS9 and INTS11 in the cytoplasm and blocks the active site of INTS11 to inhibit the endonuclease activity of INTS11 before formation of the full integrator complex (PubMed:39032489, PubMed:39032490). Following dissociation of WDR73 of the complex, BRAT1 facilitates the nuclear import of the INTS9-INTS11 heterodimer (PubMed:39032489). In the nucleus, INTS4 is integrated to the INTS9-INTS11 heterodimer and BRAT1 is released from the mature RNA endonuclease module by inositol hexakisphosphate (InsP6) (PubMed:39032489). BRAT1 is also involved in DNA damage response; activates kinases ATM, SMC1A and PRKDC by modulating their phosphorylation status following ionizing radiation (IR) stress (PubMed:16452482, PubMed:22977523). Plays a role in regulating mitochondrial function and cell proliferation (PubMed:25070371). Required for protein stability of MTOR and MTOR-related proteins, and cell cycle progress by growth factors (PubMed:25657994)