Aliases for BRAT1 Gene
Aliases for BRAT1 Gene
External Ids for BRAT1 Gene
- HGNC: 21701
- Entrez Gene: 221927
- Ensembl: ENSG00000106009
- OMIM: 614506
- UniProtKB: Q6PJG6
Previous HGNC Symbols for BRAT1 Gene
- C7orf27
- BAAT1
Summaries for BRAT1 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]
GeneCards Summary for BRAT1 Gene
BRAT1 (BRCA1 Associated ATM Activator 1) is a Protein Coding gene. Diseases associated with BRAT1 include Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal and Hypertonia. GO annotations related to this gene include binding.
UniProtKB/Swiss-Prot for BRAT1 Gene
-
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).
No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for BRAT1 Gene
Genomics for BRAT1 Gene
Regulatory Elements for BRAT1 Gene
Enhancers for BRAT1 Gene
- Elite enhancer and/or Elite enhancer-gene association
Download GeneHancer data dump
Enhancers around BRAT1 on UCSC Golden Path with GeneCards custom track
Regulatory Element Products
Genomic Location for BRAT1 Gene
- Chromosome:
- 7
- Start:
- 2,537,810 bp from pter
- End:
- 2,555,758 bp from pter
- Size:
- 17,949 bases
- Orientation:
- Minus strand
Genomic View for BRAT1 Gene
Genes around BRAT1 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 7p22.3 by Ensembl
- 7p22.3 by Entrez Gene
- 7p22.3 by HGNC
BRAT1 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence for BRAT1 Gene
Proteins for BRAT1 Gene
-
Protein details for BRAT1 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- Q6PJG6-BRAT1_HUMAN
- Recommended name:
- BRCA1-associated ATM activator 1
- Protein Accession:
- Q6PJG6
- A4D200
- C9JY24
- Q8IW85
- Q8IZ43
- Q8WVR8
- Q96IV9
- Q9H7J8
- Q9UFA3
Protein attributes for BRAT1 Gene
- Size:
- 821 amino acids
- Molecular mass:
- 88119 Da
- Quaternary structure:
-
- Interacts with BRCA1 and ATM. Interacts with MTOR and RPTOR. Interacts with NDFIP1. Interacts with SMC1A and PRKDC.
- SequenceCaution:
-
- Sequence=BAB15772.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305};
Protein Expression for BRAT1 Gene
Post-translational modifications for BRAT1 Gene
- Ubiquitinated by NEDD4, NEDD4L and ITCH; mono- and polyubiquitinated forms are detected.
- Ubiquitination at Lys31, Lys197, Lys213, posLast=304304, posLast=329329, Lys358, posLast=507507, and Lys729
- Modification sites at PhosphoSitePlus
Other Protein References for BRAT1 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
-
Custom Antibody ServicesOriGene Antibodies for BRAT1
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- Invitrogen Antibodies for BRAT1
- antibodies-online Antibodies for BRAT1: See all 11
- GeneTex BRAT1 antibody for BRAT1
Protein Products
-
OriGene Purified Proteins for BRAT1
- Search Origene for MassSpec and Protein Over-expression Lysates for BRAT1
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- antibodies-online Proteins for BRAT1: See all 3
- Search antibodies-online for peptides
- Search GeneTex for Proteins for BRAT1
Assay Products
No data available for DME Specific Peptides for BRAT1 Gene
Domains & Families for BRAT1 Gene
Protein Domains for BRAT1 Gene
- InterPro:
- ProtoNet:
Suggested Antigen Peptide Sequences for BRAT1 Gene
- GenScript: Design optimal peptide antigens:
Graphical View of Domain Structure for InterPro Entry
No data available for Gene Families and UniProtKB/Swiss-Prot for BRAT1 Gene
Function for BRAT1 Gene
Molecular function for BRAT1 Gene
- UniProtKB/Swiss-Prot Function:
- 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).
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005515 | protein binding | IPI | 16452482 |
Phenotypes for BRAT1 Gene
- GenomeRNAi human phenotypes for BRAT1:
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
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ViGene Biosciences lentiviral particle packaged cDNA for BRAT1 gene
-
ViGene Biosciences ready-to-package AAV shRNAs for BRAT1 gene
- Search ViGene Biosciences for BRAT1
CRISPR Products
-
OriGene CRISPR knockouts for BRAT1
-
Santa Cruz Biotechnology (SCBT) CRISPR for BRAT1
- GenScript: Design CRISPR guide RNA sequences for BRAT1
miRNA for BRAT1 Gene
- miRTarBase miRNAs that target BRAT1
miRNA Products
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Inhibitory RNA Products
- Origene RNAi, siRNA, and shRNA products in human, mouse, rat for BRAT1
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Cell Line Products
-
Horizon Cell Lines for BRAT1
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ViGene Biosciences adenoviral particle packaged cDNA for BRAT1 gene
-
ViGene Biosciences lentiviral particle packaged cDNA for BRAT1 gene
-
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Flow Cytometry Products
No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for BRAT1 Gene
Localization for BRAT1 Gene
Subcellular locations from UniProtKB/Swiss-Prot for BRAT1 Gene
- Nucleus. Cytoplasm. 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}.
| Compartment | Confidence |
|---|---|
| nucleus | 5 |
| plasma membrane | 2 |
| extracellular | 2 |
| mitochondrion | 1 |
| peroxisome | 1 |
| endoplasmic reticulum | 1 |
| cytosol | 1 |
| golgi apparatus | 1 |
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005634 | nucleus | IEA,IDA | 16452482 |
| GO:0005654 | nucleoplasm | IDA | -- |
| GO:0005737 | cytoplasm | IDA,IEA | 25631046 |
| GO:0016020 | membrane | IDA | 19946888 |
Pathways & Interactions for BRAT1 Gene
No Data Available
Interacting Proteins for BRAT1 Gene
Selected Interacting proteins:
ENSP00000339637
Q6PJG6-BRAT1_HUMAN
for BRAT1 Gene via
STRING
IID
UniProtKB
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0001934 | positive regulation of protein phosphorylation | IMP | 22977523 |
| GO:0006006 | glucose metabolic process | IMP | 25070371 |
| GO:0006915 | apoptotic process | IMP | 25070371 |
| GO:0006974 | cellular response to DNA damage stimulus | IMP | 25631046 |
| GO:0008283 | cell proliferation | IMP | 25070371 |
No data available for Pathways by source and SIGNOR curated interactions for BRAT1 Gene
Transcripts for BRAT1 Gene
mRNA/cDNA for BRAT1 Gene
- (16) REFSEQ mRNAs :
- (4) Additional mRNA sequences :
- (208) Selected AceView cDNA sequences:
- (6) Ensembl transcripts including schematic representations, and UCSC links where relevant :
Unigene Clusters for BRAT1 Gene
CRISPR Products
-
OriGene CRISPR knockouts for BRAT1
-
Santa Cruz Biotechnology (SCBT) CRISPR for BRAT1
- GenScript: Design CRISPR guide RNA sequences for BRAT1
miRNA Products
- Search ViGene Biosciences for BRAT1
Inhibitory RNA Products
- Origene RNAi, siRNA, and shRNA products in human, mouse, rat for BRAT1
- Browse OriGene Inhibitory RNA Products For BRAT1
-
ViGene Biosciences ready-to-package AAV shRNAs for BRAT1 gene
Clone Products
-
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Flow Cytometry Products
| ExUns: | 1a | · | 1b | · | 1c | ^ | 2 | ^ | 3 | ^ | 4 | ^ | 5 | ^ | 6 | ^ | 7a | · | 7b | · | 7c | · | 7d | · | 7e | ^ | 8a | · | 8b | · | 8c | ^ | 9 | ^ | 10a | · | 10b | ^ | 11 | ^ | 12a | · | 12b | · | 12c | ^ | 13a | · | 13b | ^ | 14 | ^ |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SP1: | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||
| SP2: | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||
| SP3: | - | |||||||||||||||||||||||||||||||||||||||||||||||||||
| SP4: | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||
| SP5: | - | |||||||||||||||||||||||||||||||||||||||||||||||||||
| SP6: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP7: | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||||
| SP8: | - | |||||||||||||||||||||||||||||||||||||||||||||||||||
| SP9: | - | |||||||||||||||||||||||||||||||||||||||||||||||||||
| SP10: | - | |||||||||||||||||||||||||||||||||||||||||||||||||||
| SP11: | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||||
| SP12: | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||||
| SP13: | - | - | - |
| ExUns: | 15 | ^ | 16 | ^ | 17 | ^ | 18a | · | 18b |
|---|---|---|---|---|---|---|---|---|---|
| SP1: | |||||||||
| SP2: | |||||||||
| SP3: | |||||||||
| SP4: | |||||||||
| SP5: | |||||||||
| SP6: | - | ||||||||
| SP7: | |||||||||
| SP8: | |||||||||
| SP9: | |||||||||
| SP10: | |||||||||
| SP11: | |||||||||
| SP12: | |||||||||
| SP13: |
Expression for BRAT1 Gene
This gene is overexpressed in Bone (57.8).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for BRAT1 Gene
- Elite partner
NURSA nuclear receptor signaling pathways regulating expression of BRAT1 Gene:
BRAT1SOURCE GeneReport for Unigene cluster for BRAT1 Gene:
Hs.520623mRNA Expression by UniProt/SwissProt for BRAT1 Gene:
Q6PJG6-BRAT1_HUMAN
Tissue specificity:
Ubiquitously expressed.
Evidence on tissue expression from TISSUES for BRAT1 Gene
- Skin(4.3)
- Intestine(4.2)
- Spleen(4.2)
- Nervous system(2.2)
Phenotype-based relationships between genes and organs from Gene ORGANizer for BRAT1 Gene
Germ Layers:
- ectoderm
- endoderm
- mesoderm
Systems:
- cardiovascular
- nervous
- respiratory
- skeletal muscle
- skeleton
Organs:
Head and neck:
- brain
- ear
- head
- skull
Thorax:
- heart
- heart valve
- lung
Limb:
- ankle
- digit
- elbow
- finger
- foot
- hand
- hip
- knee
- lower limb
- shoulder
- toe
- upper limb
- wrist
General:
- peripheral nerve
- peripheral nervous system
- spinal cord
Primer Products
-
OriGene qPCR primer pairs for BRAT1
-
OriGene qPCR primer pairs and template standards for BRAT1
No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA differential expression in normal tissues for BRAT1 Gene
Orthologs for BRAT1 Gene
This gene was present in the common ancestor of chordates.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | BRAT1 34 35 |
|
||
| dog (Canis familiaris) |
Mammalia | BRAT1 34 35 |
|
||
| cow (Bos Taurus) |
Mammalia | BRAT1 34 35 |
|
||
| rat (Rattus norvegicus) |
Mammalia | Brat1 34 |
|
||
| mouse (Mus musculus) |
Mammalia | Brat1 34 16 35 |
|
||
| oppossum (Monodelphis domestica) |
Mammalia | BRAT1 35 |
|
OneToOne | |
| platypus (Ornithorhynchus anatinus) |
Mammalia | BRAT1 35 |
|
OneToOne | |
| chicken (Gallus gallus) |
Aves | BRAT1 34 35 |
|
||
| lizard (Anolis carolinensis) |
Reptilia | BRAT1 35 |
|
OneToOne | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | brat1 34 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | brat1 34 35 |
|
- Species where no ortholog for BRAT1 was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Ashbya gossypii)
- Actinobacteria (Mycobacterium tuberculosis)
- African clawed frog (Xenopus laevis)
- African malaria mosquito (Anopheles gambiae)
- Alicante grape (Vitis vinifera)
- alpha proteobacteria (Wolbachia pipientis)
- amoeba (Dictyostelium discoideum)
- Archea (Pyrococcus horikoshii)
- baker's yeast (Saccharomyces cerevisiae)
- barley (Hordeum vulgare)
- beta proteobacteria (Neisseria meningitidis)
- bread mold (Neurospora crassa)
- Chromalveolata (Phytophthora infestans)
- common water flea (Daphnia pulex)
- corn (Zea mays)
- E. coli (Escherichia coli)
- filamentous fungi (Aspergillus nidulans)
- Firmicute bacteria (Streptococcus pneumoniae)
- fission yeast (Schizosaccharomyces pombe)
- fruit fly (Drosophila melanogaster)
- green algae (Chlamydomonas reinhardtii)
- honey bee (Apis mellifera)
- K. lactis yeast (Kluyveromyces lactis)
- loblloly pine (Pinus taeda)
- malaria parasite (Plasmodium falciparum)
- medicago trunc (Medicago Truncatula)
- moss (Physcomitrella patens)
- orangutan (Pongo pygmaeus)
- pig (Sus scrofa)
- rainbow trout (Oncorhynchus mykiss)
- rice (Oryza sativa)
- rice blast fungus (Magnaporthe grisea)
- schistosome parasite (Schistosoma mansoni)
- sea anemone (Nematostella vectensis)
- sea squirt (Ciona intestinalis)
- sea squirt (Ciona savignyi)
- sea urchin (Strongylocentrotus purpuratus)
- sorghum (Sorghum bicolor)
- soybean (Glycine max)
- stem rust fungus (Puccinia graminis)
- sugarcane (Saccharum officinarum)
- thale cress (Arabidopsis thaliana)
- tomato (Lycopersicon esculentum)
- toxoplasmosis (Toxoplasma gondii)
- Trichoplax (Trichoplax adhaerens)
- wheat (Triticum aestivum)
- worm (Caenorhabditis elegans)
Paralogs for BRAT1 Gene
(3) SIMAP similar genes for BRAT1 Gene using alignment to 2 proteins:
No data available for Paralogs for BRAT1 Gene
Variants for BRAT1 Gene
| SNP ID | Clin | Chr 07 pos | Sequence Context | AA Info | Type |
|---|---|---|---|---|---|
| rs727505362 | Pathogenic | 2,543,939(-) | TCTCC(-/ATCTTCTC/GAGAAGAT)CTGCA | nc-transcript-variant, reference, frameshift-variant, utr-variant-5-prime | |
| rs727505363 | Pathogenic | 2,547,430(-) | GCTGC(C/T)GTCCC | nc-transcript-variant, reference, missense, utr-variant-5-prime | |
| rs727505364 | Pathogenic | 2,542,172(-) | CCTTC(-/TC)CAGCC | nc-transcript-variant, reference, frameshift-variant | |
| rs727505365 | Pathogenic | 2,541,442(-) | TGGGG(-/G)CTACA | nc-transcript-variant, reference, frameshift-variant | |
| rs730880324 | Pathogenic | 2,543,754(-) | CCCAA(-/A)GGTCA | nc-transcript-variant, reference, frameshift-variant |
Residual Variation Intolerance Score:
91.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
8.11;
84.55% of all genes are more intolerant (likely to be disease-causing)
Relevant External Links for BRAT1 Gene
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for BRAT1 Gene
Disorders for BRAT1 Gene
(3) MalaCards diseases for BRAT1 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, DISEASES, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| rigidity and multifocal seizure syndrome, lethal neonatal |
|
|
| hypertonia |
|
|
| epileptic encephalopathy, early infantile, 15 |
|
|
Search BRAT1 in MalaCards
View complete list of genes associated with diseases
UniProtKB/Swiss-Prot
BRAT1_HUMAN- 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}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Relevant External Links for BRAT1
- Atlas of Genetics and Cytogenetics in Oncology and Haematology:
- BRAT1
No data available for Genatlas for BRAT1 Gene
Publications for BRAT1 Gene
- ATM activation by ionizing radiation requires BRCA1-associated BAAT1. (PMID: 16452482) Aglipay J.A. … Ouchi T. (J. Biol. Chem. 2006) 2 3 4 64
- 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. (PMID: 25631046) Low L.H. … Tan S.S. (J. Biol. Chem. 2015) 3 4 64
- BRAT1 deficiency causes increased glucose metabolism and mitochondrial malfunction. (PMID: 25070371) So E.Y. … Ouchi T. (BMC Cancer 2014) 3 4 64
- The potential role of BRCA1-associated ATM activator-1 (BRAT1) in regulation of mTOR. (PMID: 25657994) So E.Y. … Ouchi T. (J. Cancer. Biol. Res. 2013) 3 4 64
- Genetic mapping and exome sequencing identify variants associated with five novel diseases. (PMID: 22279524) Puffenberger E.G. … Strauss K.A. (PLoS ONE 2012) 3 4 64
Products for BRAT1 Gene
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- antibodies-online Antibodies for BRAT1: See all 11
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- antibodies-online Proteins for BRAT1: See all 3
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- GeneTex BRAT1 antibody for BRAT1
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- ViGene Biosciences adenoviral particle packaged cDNA for BRAT1 gene
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- Mammalian expression: PiggyBac
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- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
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- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
Sources for BRAT1 Gene
- (1) GeneCards
- (2) HGNC
- (3) EntrezGene
- (4) Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) GO
- (12) TrEMBL
- (13) InterPro
- (14) ProtoNet
- (15) Blocks
- (16) MGI
- (17) IUBMB
- (18) KEGG
- (19) MINT
- (20) STRING
- (21) IntAct
- (22) Novoseek
- (23) PharmGKB
- (24) DrugBank
- (25) HMDB
- (26) UniGene
- (27) AceView
- (28) RNAdb
- (29) ASD
- (30) ECgene
- (31) GeneAnnot
- (32) CGAP SAGE
- (33) SOURCE
- (34) HomoloGene
- (35) PanEnsembl
- (36) euGenes
- (37) SGD
- (38) FlyBase
- (39) WormBase
- (40) Pseudogene
- (41) DGV
- (42) dbSNP
- (43) GenAtlas
- (44) GeneTests
- (45) HGMD
- (46) GAD
- (47) LSDB
- (48) BGMUT
- (49) HuGE
- (50) eBioscience
- (51) Atlas
- (52) Cell Signaling Technology
- (53) GenBank
- (54) H-invDB
- (55) HORDE
- (56) HUGE
- (57) IMGT
- (58) Leiden
- (59) MILLIPORE
- (60) miRBase
- (61) DME
- (62) NCBI
- (63) OriGene
- (64) PubMed
- (65) R&D Systems
- (66) TGDB
- (67) Tocris
- (68) Abcam
- (69) Novus
- (70) ProSpec
- (71) Sino Biological
- (72) GenScript
- (73) Qiagen
- (74) Cloud-Clone Corp.
- (75) Enzo Life Sciences
- (76) OCA
- (77) Proteopedia
- (78) MOPED
- (79) SPIRE
- (80) neXtProt
- (81) Reactome
- (82) GeneGo (Thomson Reuters)
- (83) fRNAdb
- (84) DISEASES
- (85) SIMAP
- (86) GenomeRNAi
- (87) LifeMap
- (88) miRTarBase
- (89) MalaCards
- (90) Invitrogen
- (91) BitterDB
- (92) Vector BioLabs
- (93) ESI-BIO
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