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BRAT1 BRCA1 associated ATM activator 1 [ Homo sapiens (human) ]

Gene ID: 221927, updated on 5-Mar-2024

Summary

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Official Symbol
BRAT1provided by HGNC
Official Full Name
BRCA1 associated ATM activator 1provided by HGNC
Primary source
HGNC:HGNC:21701
See related
Ensembl:ENSG00000106009 MIM:614506; AllianceGenome:HGNC:21701
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
BAAT1; RMFSL; NEDCAS; C7orf27
Summary
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]
Expression
Ubiquitous expression in testis (RPKM 8.5), spleen (RPKM 7.2) and 25 other tissues See more
Orthologs
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Genomic context

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Location:
7p22.3
Exon count:
16
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (2537810..2555524, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (2651326..2669118, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (2577444..2595158, complement)

Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC107986759 Neighboring gene nonconserved acetylation island sequence 106 enhancer Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17874 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17875 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17876 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25533 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25534 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:2562611-2563123 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:2568003-2568977 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:2568978-2569951 Neighboring gene LFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25535 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:2570927-2571899 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr7:2573085-2574005 Neighboring gene H3K27ac hESC enhancer GRCh37_chr7:2574006-2574925 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:2575635-2576136 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:2576137-2576636 Neighboring gene microRNA 4648 Neighboring gene ReSE screen-validated silencer GRCh37_chr7:2586847-2587013 Neighboring gene uncharacterized LOC124901849 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:2595065-2595742 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17880 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17881 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25536 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:2606477-2607079 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:2607080-2607681 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr7:2611286-2612485 Neighboring gene IQ motif containing E Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:2624592-2625163 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:2649707-2650280 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:2650281-2650854 Neighboring gene uncharacterized LOC107986760 Neighboring gene Sharpr-MPRA regulatory region 835 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:2662913-2663422 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:2671045-2671776 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:2672509-2673241 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:2673974-2674706 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:2676733-2677406 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:2677407-2678078 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:2680771-2681442 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:2681443-2682114 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25541 Neighboring gene Sharpr-MPRA regulatory region 8408 Neighboring gene tweety family member 3 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:2692145-2692912 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:2699787-2700287 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25542 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25543

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. Clinical and Neurophysiologic Phenotypes in Neonates With BRAT1 Encephalopathy. Carapancea E, et al. Neurology, 2023 Mar 21. PMID 36599696, Free PMC Article
  2. Compound heterozygous loss-of-function variants in BRAT1 cause lethal neonatal rigidity and multifocal seizure syndrome. Li S, et al. Mol Genet Genomic Med, 2023 Jan. PMID 36367347, Free PMC Article
  3. BRAT1 links Integrator and defective RNA processing with neurodegeneration. Cihlarova Z, et al. Nat Commun, 2022 Aug 26. PMID 36028512, Free PMC Article
  4. Clinical variability at the mild end of BRAT1-related spectrum: Evidence from two families with genotype-phenotype discordance. Nuovo S, et al. Hum Mutat, 2022 Jan. PMID 34747546
  5. Novel variant in BRAT1 with the lethal neonatal rigidity and multifocal seizure syndrome. Li W, et al. Pediatr Res, 2022 Feb. PMID 33790413

See all (60) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. BRAT1-related disorders: phenotypic spectrum and phenotype-genotype correlations from 97 patients.
    Title: BRAT1-related disorders: phenotypic spectrum and phenotype-genotype correlations from 97 patients.
  2. Clinical and Neurophysiologic Phenotypes in Neonates With BRAT1 Encephalopathy.
    Title: Clinical and Neurophysiologic Phenotypes in Neonates With BRAT1 Encephalopathy.
  3. Compound heterozygous loss-of-function variants in BRAT1 cause lethal neonatal rigidity and multifocal seizure syndrome.
    Title: Compound heterozygous loss-of-function variants in BRAT1 cause lethal neonatal rigidity and multifocal seizure syndrome.
  4. BRAT1 links Integrator and defective RNA processing with neurodegeneration.
    Title: BRAT1 links Integrator and defective RNA processing with neurodegeneration.
  5. Clinical variability at the mild end of BRAT1-related spectrum: Evidence from two families with genotype-phenotype discordance.
    Title: Clinical variability at the mild end of BRAT1-related spectrum: Evidence from two families with genotype-phenotype discordance.
  6. A novel pathogenic variant of BRAT1 gene causes rigidity and multifocal seizure syndrome, lethal neonatal.
    Title: A novel pathogenic variant of BRAT1 gene causes rigidity and multifocal seizure syndrome, lethal neonatal.
  7. Novel variant in BRAT1 with the lethal neonatal rigidity and multifocal seizure syndrome.
    Title: Novel variant in BRAT1 with the lethal neonatal rigidity and multifocal seizure syndrome.
  8. BRAT1 encephalopathy: a recessive cause of epilepsy of infancy with migrating focal seizures.
    Title: BRAT1 encephalopathy: a recessive cause of epilepsy of infancy with migrating focal seizures.
  9. A first reported case of Chinese origin was identified with a BRAT1 mutation linked to lethal neonatal rigidity and multifocal seizure syndrome.
    Title: BRAT1 Mutation: The First Reported Case of Chinese Origin and Review of the Literature.
  10. The neuropathology is extensively discussed and hypotheses put forward that may shed light on etiology of brain symptomatology within the context of BRAT1 mutations
    Title: Clinico-pathological correlation in case of BRAT1 mutation.
Submit: New GeneRIF Correction See all GeneRIFs (21)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description Tests
Neonatal-onset encephalopathy with rigidity and seizures
MedGen: C3281029 OMIM: 614498 GeneReviews: Not available
Compare labs
Neurodevelopmental disorder with cerebellar atrophy and with or without seizures
MedGen: C4748032 OMIM: 618056 GeneReviews: Not available
Compare labs

EBI GWAS Catalog

Description
Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
EBI GWAS Catalog

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • MGC22916

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
involved_in DNA damage response IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in DNA damage response IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in apoptotic process IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in cell migration IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in cell population proliferation IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in glucose metabolic process IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in mitochondrion localization IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in positive regulation of cell growth IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in positive regulation of protein phosphorylation IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in positive regulation of protein phosphorylation IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in response to ionizing radiation IMP
Inferred from Mutant Phenotype
more info
 PubMed 
Component Evidence Code Pubs
located_in cytoplasm IDA
Inferred from Direct Assay
more info
 PubMed 
located_in membrane HDA PubMed 
located_in nucleoplasm IDA
Inferred from Direct Assay
more info
  
is_active_in nucleus IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in nucleus IDA
Inferred from Direct Assay
more info
 PubMed 

General protein information

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Preferred Names
BRCA1-associated ATM activator 1
Names
BRCA1-associated protein required for ATM activation protein 1
HEAT repeat-containing protein C7orf27

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_032167.1 RefSeqGene

    Range
    5235..22949
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001350626.2 → NP_001337555.1  BRCA1-associated ATM activator 1 isoform 1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
    Source sequence(s)
    AC092488
    Conserved Domains (1) summary
    sd00044
    Location:449 → 490
    HEAT; HEAT repeat [structural motif]

  2. NM_001350627.2 → NP_001337556.1  BRCA1-associated ATM activator 1 isoform 3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) lacks an alternate exon and uses an alternate in-frame splice junction in the 3' coding sequence compared to variant 1. The resulting isoform (3) is shorter at the N-terminus and lacks an internal segment compared to isoform 1.
    Source sequence(s)
    AC092488
    Conserved Domains (1) summary
    sd00044
    Location:274 → 315
    HEAT; HEAT repeat [structural motif]

  3. NM_152743.4 → NP_689956.2  BRCA1-associated ATM activator 1 isoform 2

    See identical proteins and their annotated locations for NP_689956.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) uses an alternate in-frame splice junction in the 3' end of the coding sequence compared to variant 1. The resulting isoform (2) has the same N- and C-termini but is shorter compared to isoform 1.
    Source sequence(s)
    AC092488, AI963076, BC015632, BP363179
    Consensus CDS
    CCDS5334.1
    UniProtKB/Swiss-Prot
    A4D200, C9JY24, Q6PJG6, Q8IW85, Q8IZ43, Q8WVR8, Q96IV9, Q9H7J8, Q9UFA3
    Related
    ENSP00000339637.4, ENST00000340611.9
    Conserved Domains (1) summary
    sd00044
    Location:449 → 490
    HEAT; HEAT repeat [structural motif]

RNA

  1. NR_146879.2 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) differs in the 5' end and contains an alternate exon in the 3' end compared to variant 1.
    Source sequence(s)
    AC092488

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000007.14 Reference GRCh38.p14 Primary Assembly

    Range
    2537810..2555524 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047420033.1 → XP_047275989.1  BRCA1-associated ATM activator 1 isoform X11

  2. XM_017011834.2 → XP_016867323.1  BRCA1-associated ATM activator 1 isoform X5

  3. XM_047420028.1 → XP_047275984.1  BRCA1-associated ATM activator 1 isoform X3

  4. XM_047420032.1 → XP_047275988.1  BRCA1-associated ATM activator 1 isoform X9

  5. XM_011515179.3 → XP_011513481.1  BRCA1-associated ATM activator 1 isoform X2

    Conserved Domains (1) summary
    sd00044
    Location:449 → 475
    HEAT; HEAT repeat [structural motif]

  6. XM_017011836.3 → XP_016867325.1  BRCA1-associated ATM activator 1 isoform X10

  7. XM_011515186.3 → XP_011513488.1  BRCA1-associated ATM activator 1 isoform X8

  8. XM_011515181.3 → XP_011513483.1  BRCA1-associated ATM activator 1 isoform X4

    Conserved Domains (1) summary
    sd00044
    Location:450 → 476
    HEAT; HEAT repeat [structural motif]

  9. XM_011515177.3 → XP_011513479.1  BRCA1-associated ATM activator 1 isoform X1

    See identical proteins and their annotated locations for XP_011513479.1

    Conserved Domains (1) summary
    sd00044
    Location:450 → 476
    HEAT; HEAT repeat [structural motif]

  10. XM_011515178.2 → XP_011513480.1  BRCA1-associated ATM activator 1 isoform X1

    See identical proteins and their annotated locations for XP_011513480.1

    Conserved Domains (1) summary
    sd00044
    Location:450 → 476
    HEAT; HEAT repeat [structural motif]

  11. XM_047420031.1 → XP_047275987.1  BRCA1-associated ATM activator 1 isoform X7

  12. XM_047420030.1 → XP_047275986.1  BRCA1-associated ATM activator 1 isoform X6

  13. XM_011515184.4 → XP_011513486.1  BRCA1-associated ATM activator 1 isoform X6

    See identical proteins and their annotated locations for XP_011513486.1

    Conserved Domains (1) summary
    sd00044
    Location:275 → 301
    HEAT; HEAT repeat [structural motif]

  14. XM_024446682.2 → XP_024302450.1  BRCA1-associated ATM activator 1 isoform X15

    Conserved Domains (2) summary
    sd00044
    Location:52 → 88
    HEAT; HEAT repeat [structural motif]
    pfam02985
    Location:53 → 82
    HEAT; HEAT repeat

  15. XM_047420036.1 → XP_047275992.1  BRCA1-associated ATM activator 1 isoform X14

  16. XM_047420034.1 → XP_047275990.1  BRCA1-associated ATM activator 1 isoform X12

  17. XM_047420035.1 → XP_047275991.1  BRCA1-associated ATM activator 1 isoform X13

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060931.1 Alternate T2T-CHM13v2.0

    Range
    2651326..2669118 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054357549.1 → XP_054213524.1  BRCA1-associated ATM activator 1 isoform X11

  2. XM_054357542.1 → XP_054213517.1  BRCA1-associated ATM activator 1 isoform X5

  3. XM_054357540.1 → XP_054213515.1  BRCA1-associated ATM activator 1 isoform X3

  4. XM_054357547.1 → XP_054213522.1  BRCA1-associated ATM activator 1 isoform X9

  5. XM_054357539.1 → XP_054213514.1  BRCA1-associated ATM activator 1 isoform X2

  6. XM_054357548.1 → XP_054213523.1  BRCA1-associated ATM activator 1 isoform X10

  7. XM_054357546.1 → XP_054213521.1  BRCA1-associated ATM activator 1 isoform X8

  8. XM_054357541.1 → XP_054213516.1  BRCA1-associated ATM activator 1 isoform X4

  9. XM_054357537.1 → XP_054213512.1  BRCA1-associated ATM activator 1 isoform X1

  10. XM_054357538.1 → XP_054213513.1  BRCA1-associated ATM activator 1 isoform X1

  11. XM_054357545.1 → XP_054213520.1  BRCA1-associated ATM activator 1 isoform X7

  12. XM_054357544.1 → XP_054213519.1  BRCA1-associated ATM activator 1 isoform X6

  13. XM_054357543.1 → XP_054213518.1  BRCA1-associated ATM activator 1 isoform X6

  14. XM_054357553.1 → XP_054213528.1  BRCA1-associated ATM activator 1 isoform X15

  15. XM_054357552.1 → XP_054213527.1  BRCA1-associated ATM activator 1 isoform X14

  16. XM_054357550.1 → XP_054213525.1  BRCA1-associated ATM activator 1 isoform X12

  17. XM_054357551.1 → XP_054213526.1  BRCA1-associated ATM activator 1 isoform X13

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q6PJG6.2 GenPept UniProtKB/Swiss-Prot:Q6PJG6

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