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

Gene ID: 221927, updated on 7-Jun-2020

Summary

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
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

Genomic context

See BRAT1 in Genome Data Viewer
Location:
7p22.3
Exon count:
16
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 7 NC_000007.14 (2537810..2555753, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (2577444..2595392, complement)

Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC107986759 Neighboring gene nonconserved acetylation island sequence 106 enhancer Neighboring gene LFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase Neighboring gene microRNA 4648 Neighboring gene IQ motif containing E Neighboring gene uncharacterized LOC107986760 Neighboring gene tweety family member 3

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
NEURODEVELOPMENTAL DISORDER WITH CEREBELLAR ATROPHY AND WITH OR WITHOUT SEIZURES
MedGen: C4748032 OMIM: 618056 GeneReviews: Not available
Compare labs
Rigidity and multifocal seizure syndrome, lethal neonatal
MedGen: C3281029 OMIM: 614498 GeneReviews: Not available
Compare labs

NHGRI GWAS Catalog

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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC22916

Gene Ontology Provided by GOA

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

General protein information

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)

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_001350626.2NP_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:449490
    HEAT; HEAT repeat [structural motif]
  2. NM_001350627.2NP_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:274315
    HEAT; HEAT repeat [structural motif]
  3. NM_152743.4NP_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
    Q6PJG6
    Related
    ENSP00000339637.4, ENST00000340611.9
    Conserved Domains (1) summary
    sd00044
    Location:449490
    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: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000007.14 Reference GRCh38.p13 Primary Assembly

    Range
    2537810..2555753 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011515183.1XP_011513485.1  BRCA1-associated ATM activator 1 isoform X6

    See identical proteins and their annotated locations for XP_011513485.1

    Conserved Domains (1) summary
    sd00044
    Location:275301
    HEAT; HEAT repeat [structural motif]
  2. XM_011515177.2XP_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:450476
    HEAT; HEAT repeat [structural motif]
  3. XM_011515179.2XP_011513481.1  BRCA1-associated ATM activator 1 isoform X2

    Conserved Domains (1) summary
    sd00044
    Location:449475
    HEAT; HEAT repeat [structural motif]
  4. XM_011515186.2XP_011513488.1  BRCA1-associated ATM activator 1 isoform X7

  5. XM_011515181.2XP_011513483.1  BRCA1-associated ATM activator 1 isoform X4

    Conserved Domains (1) summary
    sd00044
    Location:450476
    HEAT; HEAT repeat [structural motif]
  6. XM_017011834.1XP_016867323.1  BRCA1-associated ATM activator 1 isoform X5

  7. XM_017011836.2XP_016867325.1  BRCA1-associated ATM activator 1 isoform X8

  8. XM_017011833.1XP_016867322.1  BRCA1-associated ATM activator 1 isoform X3

  9. XM_011515182.2XP_011513484.1  BRCA1-associated ATM activator 1 isoform X1

    See identical proteins and their annotated locations for XP_011513484.1

    Conserved Domains (1) summary
    sd00044
    Location:450476
    HEAT; HEAT repeat [structural motif]
  10. XM_011515178.1XP_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:450476
    HEAT; HEAT repeat [structural motif]
  11. XM_011515184.3XP_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:275301
    HEAT; HEAT repeat [structural motif]
  12. XM_024446682.1XP_024302450.1  BRCA1-associated ATM activator 1 isoform X9

    Conserved Domains (2) summary
    sd00044
    Location:5288
    HEAT; HEAT repeat [structural motif]
    pfam02985
    Location:5382
    HEAT; HEAT repeat
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