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Protein

BRCA1-associated ATM activator 1

Gene

BRAT1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

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).4 Publications

GO - Biological processi

  • apoptotic process Source: UniProtKB
  • cell migration Source: UniProtKB
  • cell proliferation Source: UniProtKB
  • cellular response to DNA damage stimulus Source: UniProtKB
  • glucose metabolic process Source: UniProtKB
  • mitochondrion localization Source: UniProtKB
  • positive regulation of cell growth Source: UniProtKB
  • positive regulation of protein phosphorylation Source: UniProtKB
  • response to ionizing radiation Source: UniProtKB

Keywordsi

Biological processDNA damage

Names & Taxonomyi

Protein namesi
Recommended name:
BRCA1-associated ATM activator 1
Alternative name(s):
BRCA1-associated protein required for ATM activation protein 1
Gene namesi
Name:BRAT1
Synonyms:BAAT1, C7orf27
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 7

Organism-specific databases

EuPathDBiHostDB:ENSG00000106009.15
HGNCiHGNC:21701 BRAT1
MIMi614506 gene
neXtProtiNX_Q6PJG6

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Cytoplasm, Nucleus

Pathology & Biotechi

Involvement in diseasei

Rigidity and multifocal seizure syndrome, lethal neonatal (RMFSL)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA 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.
See also OMIM:614498

Keywords - Diseasei

Epilepsy

Organism-specific databases

DisGeNETi221927
MalaCardsiBRAT1
MIMi614498 phenotype
OpenTargetsiENSG00000106009
PharmGKBiPA134959439

Polymorphism and mutation databases

BioMutaiBRAT1
DMDMi134047724

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002552571 – 821BRCA1-associated ATM activator 1Add BLAST821

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei742PhosphoserineCombined sources1

Post-translational modificationi

Ubiquitinated by NEDD4, NEDD4L and ITCH; mono- and polyubiquitinated forms are detected.1 Publication

Keywords - PTMi

Phosphoprotein, Ubl conjugation

Proteomic databases

EPDiQ6PJG6
MaxQBiQ6PJG6
PaxDbiQ6PJG6
PeptideAtlasiQ6PJG6
PRIDEiQ6PJG6

PTM databases

iPTMnetiQ6PJG6
PhosphoSitePlusiQ6PJG6

Expressioni

Tissue specificityi

Ubiquitously expressed.1 Publication

Gene expression databases

BgeeiENSG00000106009
CleanExiHS_C7orf27
ExpressionAtlasiQ6PJG6 baseline and differential
GenevisibleiQ6PJG6 HS

Organism-specific databases

HPAiHPA029455
HPA076508

Interactioni

Subunit structurei

Interacts with BRCA1 and ATM. Interacts with MTOR and RPTOR. Interacts with NDFIP1. Interacts with SMC1A and PRKDC.4 Publications

Binary interactionsi

Show more details

Protein-protein interaction databases

BioGridi128767, 40 interactors
IntActiQ6PJG6, 8 interactors
STRINGi9606.ENSP00000339637

Structurei

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
4IFIX-ray2.20B268-273[»]
ProteinModelPortaliQ6PJG6
SMRiQ6PJG6
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Repeati495 – 531HEAT 1Add BLAST37
Repeati544 – 576HEAT 2Add BLAST33

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni100 – 200Required for interaction with NDFIP11 PublicationAdd BLAST101

Keywords - Domaini

Repeat

Phylogenomic databases

eggNOGiENOG410IEZF Eukaryota
ENOG4110J7I LUCA
GeneTreeiENSGT00390000017551
HOVERGENiHBG062139
InParanoidiQ6PJG6
OMAiRLCSPCW
OrthoDBiEOG091G0JD8
PhylomeDBiQ6PJG6
TreeFamiTF324349

Family and domain databases

Gene3Di1.25.10.10, 1 hit
InterProiView protein in InterPro
IPR011989 ARM-like
IPR016024 ARM-type_fold
IPR000357 HEAT
PfamiView protein in Pfam
PF02985 HEAT, 2 hits
SUPFAMiSSF48371 SSF48371, 3 hits

Sequences (3)i

Sequence statusi: Complete.

This entry describes 3 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q6PJG6-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MDPECAQLLP ALCAVLVDPR QPVADDTCLE KLLDWFKTVT EGESSVVLLQ
60 70 80 90 100
EHPCLVELLS HVLKVQDLSS GVLSFSLRLA GTFAAQENCF QYLQQGELLP
110 120 130 140 150
GLFGEPGPLG RATWAVPTVR SGWIQGLRSL AQHPSALRFL ADHGAVDTIF
160 170 180 190 200
SLQGDSSLFV ASAASQLLVH VLALSMRGGA EGQPCLPGGD WPACAQKIMD
210 220 230 240 250
HVEESLCSAA TPKVTQALNV LTTTFGRCQS PWTEALWVRL SPRVACLLER
260 270 280 290 300
DPIPAAHSFV DLLLCVARSP VFSSSDGSLW ETVARALSCL GPTHMGPLAL
310 320 330 340 350
GILKLEHCPQ ALRTQAFQVL LQPLACVLKA TVQAPGPPGL LDGTADDATT
360 370 380 390 400
VDTLLASKSS CAGLLCRTLA HLEELQPLPQ RPSPWPQASL LGATVTVLRL
410 420 430 440 450
CDGSAAPASS VGGHLCGTLA GCVRVQRAAL DFLGTLSQGT GPQELVTQAL
460 470 480 490 500
AVLLECLESP GSSPTVLKKA FQATLRWLLS SPKTPGCSDL GPLIPQFLRE
510 520 530 540 550
LFPVLQKRLC HPCWEVRDSA LEFLTQLSRH WGGQADFRCA LLASEVPQLA
560 570 580 590 600
LQLLQDPESY VRASAVTAMG QLSSQGLHAP TSPEHAEARQ SLFLELLHIL
610 620 630 640 650
SVDSEGFPRR AVMQVFTEWL RDGHADAAQD TEQFVATVLQ AASRDLDWEV
660 670 680 690 700
RAQGLELALV FLGQTLGPPR THCPYAVALP EVAPAQPLTE ALRALCHVGL
710 720 730 740 750
FDFAFCALFD CDRPVAQKSC DLLLFLRDKI ASYSSLREAR GSPNTASAEA
760 770 780 790 800
TLPRWRAGEQ AQPPGDQEPE AVLAMLRSLD LEGLRSTLAE SSDHVEKSPQ
810 820
SLLQDMLATG GFLQGDEADC Y
Length:821
Mass (Da):88,119
Last modified:March 20, 2007 - v2
Checksum:iC18FDDE8B13FEECD
GO
Isoform 2 (identifier: Q6PJG6-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     270-286: PVFSSSDGSLWETVARA → GPRDAAGGPGWATVFLG
     287-821: Missing.

Note: No experimental confirmation available.
Show »
Length:286
Mass (Da):30,560
Checksum:iD72BCE177DB84E58
GO
Isoform 3 (identifier: Q6PJG6-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-530: Missing.
     531-589: WGGQADFRCA...PTSPEHAEAR → MGKLRIGGPC...TNHPHLLPVP

Note: No experimental confirmation available.Curated
Show »
Length:291
Mass (Da):31,676
Checksum:i3707108370D007AC
GO

Sequence cautioni

The sequence BAB15772 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti644R → Q in CAB61405 (PubMed:17974005).Curated1
Isoform 3 (identifier: Q6PJG6-3)
Sequence conflicti49P → T in AAH40704 (PubMed:15489334).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_03120220R → G1 PublicationCorresponds to variant dbSNP:rs17856488Ensembl.1
Natural variantiVAR_061594737R → W. Corresponds to variant dbSNP:rs60152725EnsemblClinVar.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0212881 – 530Missing in isoform 3. 1 PublicationAdd BLAST530
Alternative sequenceiVSP_021289270 – 286PVFSS…TVARA → GPRDAAGGPGWATVFLG in isoform 2. 1 PublicationAdd BLAST17
Alternative sequenceiVSP_021290287 – 821Missing in isoform 2. 1 PublicationAdd BLAST535
Alternative sequenceiVSP_021291531 – 589WGGQA…HAEAR → MGKLRIGGPCAHCAAWEGVR AGCGPRLHVRGQPPSCTGVL LREPRSCHPTNHPHLLPVP in isoform 3. 1 PublicationAdd BLAST59

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK024482 mRNA Translation: BAB15772.1 Different initiation.
AC092488 Genomic DNA No translation available.
CH236953 Genomic DNA Translation: EAL23957.1
CH471144 Genomic DNA Translation: EAW87257.1
CH471144 Genomic DNA Translation: EAW87258.1
BC007209 mRNA Translation: AAH07209.1
BC023561 mRNA Translation: AAH23561.2
BC040704 mRNA Translation: AAH40704.1
BC015632 mRNA Translation: AAH15632.2
AL133088 mRNA Translation: CAB61405.1
CCDSiCCDS5334.1 [Q6PJG6-1]
PIRiT42692
RefSeqiNP_689956.2, NM_152743.3 [Q6PJG6-1]
UniGeneiHs.520623

Genome annotation databases

EnsembliENST00000340611; ENSP00000339637; ENSG00000106009 [Q6PJG6-1]
GeneIDi221927
KEGGihsa:221927
UCSCiuc003smi.4 human [Q6PJG6-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Entry informationi

Entry nameiBRAT1_HUMAN
AccessioniPrimary (citable) accession number: Q6PJG6
Secondary accession number(s): A4D200
, C9JY24, Q8IW85, Q8IZ43, Q8WVR8, Q96IV9, Q9H7J8, Q9UFA3
Entry historyiIntegrated into UniProtKB/Swiss-Prot: October 31, 2006
Last sequence update: March 20, 2007
Last modified: March 28, 2018
This is version 117 of the entry and version 2 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, Reference proteome
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Main funding by: National Institutes of Health