BRAT1
Integrator complex assembly factor BRAT1
Also known as: BAAT1, BRAT1_HUMAN, C7orf27, MGC22916
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- Q6PJG6
- Gene
- BRAT1
- Ensembl
- ENSG00000106009
- Chromosome
- 7
- Canonical length
- 821 aa
- Protein class
- Disease related genes, Human disease related genes, Predicted intracellular proteins
- Subcellular location
- Nucleoplasm
OverviewNCBI Gene
The protein encoded by this ubiquitously expressed gene interacts with the tumor suppressing BRCA1 (breast cancer 1) protein and and the ATM (ataxia telangiectasia mutated) protein. ATM is thought to be a master controller of cell cycle checkpoint signalling pathways that are required for cellular responses to DNA damage such as double-strand breaks that are induced by ionizing radiation and complexes with BRCA1 in the multi-protein complex BASC (BRAC1-associated genome surveillance complex). The protein encoded by this gene is thought to play a role in the DNA damage pathway regulated by BRCA1 and ATM. [provided by RefSeq, Mar 2012]
Canonical amino-acid sequenceUniProt
821 residues, UniProt reviewed canonical sequence.
>Q6PJG6|BRAT1
1 MDPECAQLLP ALCAVLVDPR QPVADDTCLE KLLDWFKTVT EGESSVVLLQ EHPCLVELLS
61 HVLKVQDLSS GVLSFSLRLA GTFAAQENCF QYLQQGELLP GLFGEPGPLG RATWAVPTVR
121 SGWIQGLRSL AQHPSALRFL ADHGAVDTIF SLQGDSSLFV ASAASQLLVH VLALSMRGGA
181 EGQPCLPGGD WPACAQKIMD HVEESLCSAA TPKVTQALNV LTTTFGRCQS PWTEALWVRL
241 SPRVACLLER DPIPAAHSFV DLLLCVARSP VFSSSDGSLW ETVARALSCL GPTHMGPLAL
301 GILKLEHCPQ ALRTQAFQVL LQPLACVLKA TVQAPGPPGL LDGTADDATT VDTLLASKSS
361 CAGLLCRTLA HLEELQPLPQ RPSPWPQASL LGATVTVLRL CDGSAAPASS VGGHLCGTLA
421 GCVRVQRAAL DFLGTLSQGT GPQELVTQAL AVLLECLESP GSSPTVLKKA FQATLRWLLS
481 SPKTPGCSDL GPLIPQFLRE LFPVLQKRLC HPCWEVRDSA LEFLTQLSRH WGGQADFRCA
541 LLASEVPQLA LQLLQDPESY VRASAVTAMG QLSSQGLHAP TSPEHAEARQ SLFLELLHIL
601 SVDSEGFPRR AVMQVFTEWL RDGHADAAQD TEQFVATVLQ AASRDLDWEV RAQGLELALV
661 FLGQTLGPPR THCPYAVALP EVAPAQPLTE ALRALCHVGL FDFAFCALFD CDRPVAQKSC
721 DLLLFLRDKI ASYSSLREAR GSPNTASAEA TLPRWRAGEQ AQPPGDQEPE AVLAMLRSLD
781 LEGLRSTLAE SSDHVEKSPQ SLLQDMLATG GFLQGDEADC YLocalizationUniProt · AlphaFold · HPA
Whether an antibody against BRAT1 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Intracellular
- Secreted
- No
- Transmembrane segments
- 0
- Mean surface accessibility (rSASA)
- 0.26
- Highest tissue expression
- 33 nTPM
Expression across tissuesHPA
Tissue
- testis: 33 nTPM
- adrenal gland: 32 nTPM
- prostate: 26 nTPM
- cervix: 24 nTPM
- cerebellum: 23 nTPM
- ovary: 23 nTPM
Single-cell type
- hofbauer cells: 66 nCPM
- undifferentiated spermatogonia: 61 nCPM
- differentiating spermatogonia: 60 nCPM
- epididymal basal cells: 40 nCPM
- early primary spermatocytes: 38 nCPM
- late primary spermatocytes: 34 nCPM
Immune cell
- myeloid DC: 33 nTPM
- classical monocyte: 31 nTPM
- intermediate monocyte: 28 nTPM
- non-classical monocyte: 27 nTPM
- neutrophil: 26 nTPM
- plasmacytoid DC: 23 nTPM
Brain region
- medulla oblongata: 24 nTPM
- midbrain: 19 nTPM
- hypothalamus: 19 nTPM
- thalamus: 19 nTPM
- cerebral cortex: 18 nTPM
- basal ganglia: 18 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about BRAT1.
Disease | AllUniProt
Conditions BRAT1 is implicated in, by any mechanism.
- Rigidity and multifocal seizure syndrome, lethal neonatal (RMFSL) MIM:614498
- Neurodevelopmental disorder with cerebellar atrophy and with or without seizures (NEDCAS) MIM:618056
Disease | GeneticClinVar
116 pathogenic / likely-pathogenic of 1,371 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
- Neonatal-onset encephalopathy with rigidity and seizures
- Neurodevelopmental disorder with cerebellar atrophy and with or without seizures
- BRAT1-related disorder
- Inborn genetic diseases
- Early-infantile developmental and epileptic encephalopathy
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 1
- gnomAD pLI
- 0
- gnomAD missense Z
- -0.59
- DepMap mean gene effect
- -0.41
- DepMap dependency class
- selective
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 10% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- apoptotic process
- cell migration
- cell population proliferation
- DNA damage response
- glucose metabolic process
- mitochondrion localization
- positive regulation of cell growth
- positive regulation of protein phosphorylation
- protein localization to nucleus
- response to ionizing radiation
- integrator complex assembly
Molecular functions
Cellular components
Protein domainsUniProt · Pfam · InterPro
- HEAT repeat
- Armadillo-like helical
- Armadillo-type fold
- HEAT repeat
- BRCA1-associated ATM activator 1
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of BRAT1 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads BRAT1 as an antibody target. Whether an autoantibody or antibody against BRAT1 could matter depends on whether native BRAT1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
BRAT1 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.
Annotation status
The present source text does not explicitly label BRAT1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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