BRAT1
entrez
221927
canonical
uniprot
Q6PJG6
canonical
ensembl
ENSG00000106009
resolver
ensp
ENSP00000339637
resolver
ensp
ENSP00000560521
resolver
ensp
ENSP00000560525
resolver
ensp
ENSP00000560527
resolver
ensp
ENSP00000560528
resolver
ensp
ENSP00000560529
resolver
ensp
ENSP00000672056
resolver
ensp
ENSP00000672061
resolver
ensp
ENSP00000672069
resolver
ensp
ENSP00000722064
resolver
ensp
ENSP00000722067
resolver
ensp
ENSP00000722084
resolver
genesymbol
BRAT1
resolver
genesymbol_syn
BAAT1
resolver
genesymbol_syn
C7orf27
resolver
hgnc
HGNC:21701
resolver
uniprot
A4D200
resolver
uniprot
C9JY24
resolver
uniprot
Q8IW85
resolver
uniprot
Q8IZ43
resolver
uniprot
Q8WVR8
resolver
uniprot
Q96IV9
resolver
uniprot
Q9H7J8
resolver
uniprot
Q9UFA3
resolver
uniprot_entry
BRAT1_HUMAN
resolver
uniprot_sec
A4D200
resolver
uniprot_sec
C9JY24
resolver
uniprot_sec
Q8IW85
resolver
uniprot_sec
Q8IZ43
resolver
uniprot_sec
Q8WVR8
resolver
uniprot_sec
Q96IV9
resolver
uniprot_sec
Q9H7J8
resolver
uniprot_sec
Q9UFA3
resolver
amino_acid_sequence
MDPECAQLLPALCAVLVDPRQPVADDTCLEKLLDWFKTVTEGESSVVLLQEHPCLVELLSHVLKVQDLSSGVLSFSLRLAGTFAAQENCFQYLQQGELLPGLFGEPGPLGRATWAVPTVRSGWIQGLRSLAQHPSALRFLADHGAVDTIFSLQGDSSLFVASAASQLLVHVLALSMRGGAEGQPCLPGGDWPACAQKIMDHVEESLCSAATPKVTQALNVLTTTFGRCQSPWTEALWVRLSPRVACLLERDPIPAAHSFVDLLLCVARSPVFSSSDGSLWETVARALSCLGPTHMGPLALGILKLEHCPQALRTQAFQVLLQPLACVLKATVQAPGPPGLLDGTADDATTVDTLLASKSSCAGLLCRTLAHLEELQPLPQRPSPWPQASLLGATVTVLRLCDGSAAPASSVGGHLCGTLAGCVRVQRAALDFLGTLSQGTGPQELVTQALAVLLECLESPGSSPTVLKKAFQATLRWLLSSPKTPGCSDLGPLIPQFLRELFPVLQKRLCHPCWEVRDSALEFLTQLSRHWGGQADFRCALLASEVPQLALQLLQDPESYVRASAVTAMGQLSSQGLHAPTSPEHAEARQSLFLELLHILSVDSEGFPRRAVMQVFTEWLRDGHADAAQDTEQFVATVLQAASRDLDWEVRAQGLELALVFLGQTLGPPRTHCPYAVALPEVAPAQPLTEALRALCHVGLFDFAFCALFDCDRPVAQKSCDLLLFLRDKIASYSSLREARGSPNTASAEATLPRWRAGEQAQPPGDQEPEAVLAMLRSLDLEGLRSTLAESSDHVEKSPQSLLQDMLATGGFLQGDEADCY
uniprot
proteins
disease_involvement
DISEASE: Rigidity and multifocal seizure syndrome, lethal neonatal (RMFSL) [MIM:614498]: A lethal, neonatal, neurologic disorder characterized by episodic jerking that is apparent in utero, lack of psychomotor development, axial and limb rigidity, frequent multifocal seizures, and dysautonomia. At birth, affected individuals have small heads, overlapping cranial sutures, small or absent fontanels, and depressed frontal bones. Infants show poorly responsive focal jerks of the tongue, face and arms in a nearly continuous sequence throughout life. {ECO:0000269|PubMed:22279524, ECO:0000269|PubMed:25319849, ECO:0000269|PubMed:25500575, ECO:0000269|PubMed:26535877, ECO:0000269|PubMed:26947546, ECO:0000269|PubMed:27282546, ECO:0000269|PubMed:39032489}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Neurodevelopmental disorder with cerebellar atrophy and with or without seizures (NEDCAS) [MIM:618056]: An autosomal recessive disorder characterized by psychomotor developmental delay manifesting in infancy, cerebellar atrophy, decreased myelination, and seizures in most patients. Additional features include intellectual disability, ataxia or dyspraxia, hypertonia, hyperreflexia, poor or absent speech, microcephaly, subtle dysmorphisms, and visual impairment in some patients. {ECO:0000269|PubMed:26483087, ECO:0000269|PubMed:26494257, ECO:0000269|PubMed:27282546, ECO:0000269|PubMed:39032489}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: 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). {ECO:0000269|PubMed:16452482, ECO:0000269|PubMed:22977523, ECO:0000269|PubMed:25070371, ECO:0000269|PubMed:25657994, ECO:0000269|PubMed:39032489, ECO:0000269|PubMed:39032490}.
uniprot
proteins
mass_dalton
88119
uniprot
proteins
mutagenesis
MUTAGEN 159; /note="F->E: Decreased interaction with INTS11."; /evidence="ECO:0000269|PubMed:39032489"; MUTAGEN 560; /note="Y->R: Decreased interaction with INTS11."; /evidence="ECO:0000269|PubMed:39032489
uniprot
proteins
post_translational_modification
PTM: Ubiquitinated by NEDD4, NEDD4L and ITCH; mono- and polyubiquitinated forms are detected. {ECO:0000269|PubMed:25631046}.
uniprot
proteins
protein_family
BRAT1 family
uniprot
proteins
pubmed
12690205
uniprot
proteins
pubmed
12853948
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16452482
uniprot
proteins
pubmed
16964243
uniprot
proteins
pubmed
17974005
uniprot
proteins
pubmed
18669648
uniprot
proteins
pubmed
18691976
uniprot
proteins
pubmed
19413330
uniprot
proteins
pubmed
19690332
uniprot
proteins
pubmed
20068231
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
22279524
uniprot
proteins
pubmed
22977523
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
25070371
uniprot
proteins
pubmed
25319849
uniprot
proteins
pubmed
25500575
uniprot
proteins
pubmed
25631046
uniprot
proteins
pubmed
25657994
uniprot
proteins
pubmed
26483087
uniprot
proteins
pubmed
26494257
uniprot
proteins
pubmed
26535877
uniprot
proteins
pubmed
26947546
uniprot
proteins
pubmed
27282546
uniprot
proteins
pubmed
39032489
uniprot
proteins
pubmed
39032490
uniprot
proteins
sequence_length
821
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:16452482, ECO:0000269|PubMed:25631046, ECO:0000269|PubMed:39032489}. Cytoplasm {ECO:0000269|PubMed:25631046, ECO:0000269|PubMed:39032489}. Note=Present at double strand breaks (DSBs)following ionizing radiation treatment. The ubiquitinated form localizes in the nucleus in a NDFIP1-dependent manner. {ECO:0000269|PubMed:16452482, ECO:0000269|PubMed:25631046}.
uniprot
proteins