• Gene id: 221927

Gene Summary

• Gene Symbol: BRAT1   Gene   UCSC   Ensembl
• Aliases: BAAT1, C7orf27, NEDCAS, RMFSL
• Gene name: BRCA1 associated ATM activator 1
• Alternate names: BRCA1-associated ATM activator 1, BRCA1-associated protein required for ATM activation protein 1, HEAT repeat-containing protein C7orf27,
• Gene location: 7p22.3 (2555752: 2537809)     Exons: 16     NC_000007.14
• Gene summary(Entrez): 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 signall
• OMIM: 603698

Protein Summary

• Protein general information: Q6PJG6  
  • Name: BRCA1 associated ATM activator 1 (BRCA1 associated protein required for ATM activation protein 1)
  • Length: 821  
  • Mass: 88119
  • Tissue specificity: Ubiquitously expressed. {ECO
• Sequence:

  MDPECAQLLPALCAVLVDPRQPVADDTCLEKLLDWFKTVTEGESSVVLLQEHPCLVELLSHVLKVQDLSSGVLSF
  SLRLAGTFAAQENCFQYLQQGELLPGLFGEPGPLGRATWAVPTVRSGWIQGLRSLAQHPSALRFLADHGAVDTIF
  SLQGDSSLFVASAASQLLVHVLALSMRGGAEGQPCLPGGDWPACAQKIMDHVEESLCSAATPKVTQALNVLTTTF
  GRCQSPWTEALWVRLSPRVACLLERDPIPAAHSFVDLLLCVARSPVFSSSDGSLWETVARALSCLGPTHMGPLAL
  GILKLEHCPQALRTQAFQVLLQPLACVLKATVQAPGPPGLLDGTADDATTVDTLLASKSSCAGLLCRTLAHLEEL
  QPLPQRPSPWPQASLLGATVTVLRLCDGSAAPASSVGGHLCGTLAGCVRVQRAALDFLGTLSQGTGPQELVTQAL
  AVLLECLESPGSSPTVLKKAFQATLRWLLSSPKTPGCSDLGPLIPQFLRELFPVLQKRLCHPCWEVRDSALEFLT
  QLSRHWGGQADFRCALLASEVPQLALQLLQDPESYVRASAVTAMGQLSSQGLHAPTSPEHAEARQSLFLELLHIL
  SVDSEGFPRRAVMQVFTEWLRDGHADAAQDTEQFVATVLQAASRDLDWEVRAQGLELALVFLGQTLGPPRTHCPY
  AVALPEVAPAQPLTEALRALCHVGLFDFAFCALFDCDRPVAQKSCDLLLFLRDKIASYSSLREARGSPNTASAEA
  TLPRWRAGEQAQPPGDQEPEAVLAMLRSLDLEGLRSTLAESSDHVEKSPQSLLQDMLATGGFLQGDEADCY

• Structural information:
  • Interpro: IPR011989  IPR016024  IPR038904  IPR000357  
  • PDB: 4IFI
  • PDBsum: 4IFI
  • STRING: ENSP00000339637
• Other Databases: GeneCards:  BRAT1  Malacards:  BRAT1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005634	nucleus	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0051646	mitochondrion localization	IMP	biological process
GO:0006006	glucose metabolic process	IMP	biological process
GO:0016477	cell migration	IMP	biological process
GO:0010212	response to ionizing radiation	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0001934	positive regulation of protein phosphorylation	IMP	biological process
GO:0006974	cellular response to DNA damage stimulus	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0008283	cell population proliferation	IMP	biological process
GO:0006915	apoptotic process	IMP	biological process
GO:0030307	positive regulation of cell growth	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0006974	cellular response to DNA damage stimulus	IEA	biological process
GO:0008283	cell population proliferation	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0006974	cellular response to DNA damage stimulus	IEA	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0016020	membrane	HDA	cellular component

Diseases

Associated diseases	References
Symptomatic generalized epilepsies	KEGG:H00577
Symptomatic generalized epilepsies	KEGG:H00577
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq