Q6PJG6 (BRAT1_HUMAN) Reviewed, UniProtKB/Swiss-Prot
Last modified
May 1, 2013.
Version 78.
History...
Names·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order
Names·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize orderNames and origin
| Protein names | Recommended name: BRCA1-associated ATM activator 1 Alternative name(s): BRCA1-associated protein required for ATM activation protein 1 | ||||
| Gene names |
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| Organism | Homo sapiens (Human) [Reference proteome] | ||||
| Taxonomic identifier | 9606 [NCBI] | ||||
| Taxonomic lineage | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo![]() |
Protein attributes
| Sequence length | 821 AA. |
| Sequence status | Complete. |
| Protein existence | Evidence at protein level |
General annotation (Comments)
| Function | Required for activation of ATM following ionizing radiation. May act by regulating dephosphorylation of ATM. Ref.7 |
| Subunit structure | Interacts with BRCA1 and ATM. Ref.7 |
| Subcellular location | Nucleus. Note: Present at double strand breaks (DSBs) following ionizing radiation treatment. Ref.7 |
| Tissue specificity | Ubiquitously expressed. Ref.7 |
| Involvement in disease | 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. |
| Sequence similarities | Contains 2 HEAT repeats. |
| Sequence caution | The sequence BAB15772.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened. |
Ontologies
| Keywords | |
|---|---|
| Cellular component | Nucleus |
| Coding sequence diversity | Alternative splicing Polymorphism |
| Disease | Epilepsy |
| Domain | Repeat |
| PTM | Phosphoprotein |
| Technical term | Complete proteome Reference proteome |
| Gene Ontology (GO) | |
| Biological_process | response to ionizing radiation Inferred from mutant phenotype Ref.7. Source: UniProtKB |
| Cellular_component | nucleus Inferred from direct assay Ref.7. Source: UniProtKB |
| Complete GO annotation... | |
Alternative products
| This entry describes 3 isoforms produced by alternative splicing. [Align] [Select] | ||||||
| Isoform 1 (identifier: Q6PJG6-1) 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. | ||||||
| Isoform 2 (identifier: Q6PJG6-2) The sequence of this isoform differs from the canonical sequence as follows: 270-286: PVFSSSDGSLWETVARA → GPRDAAGGPGWATVFLG 287-821: Missing. | ||||||
| Note: No experimental confirmation available. | ||||||
| Isoform 3 (identifier: Q6PJG6-3) 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. |
Sequence annotation (Features)
| Feature key | Position(s) | Length | Description | Graphical view | Feature identifier | ||||
Molecule processing | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Chain | 1 – 821 | 821 | BRCA1-associated ATM activator 1 | PRO_0000255257 | |||||
Regions | |||||||||
| Repeat | 495 – 531 | 37 | HEAT 1 | ||||||
| Repeat | 544 – 576 | 33 | HEAT 2 | ||||||
Amino acid modifications | |||||||||
| Modified residue | 742 | 1 | Phosphoserine Ref.8 Ref.9 Ref.10 Ref.12 | ||||||
Natural variations | |||||||||
| Alternative sequence | 1 – 530 | 530 | Missing in isoform 3. | VSP_021288 | |||||
| Alternative sequence | 270 – 286 | 17 | PVFSS…TVARA → GPRDAAGGPGWATVFLG in isoform 2. | VSP_021289 | |||||
| Alternative sequence | 287 – 821 | 535 | Missing in isoform 2. | VSP_021290 | |||||
| Alternative sequence | 531 – 589 | 59 | WGGQA…HAEAR → MGKLRIGGPCAHCAAWEGVR AGCGPRLHVRGQPPSCTGVL LREPRSCHPTNHPHLLPVP in isoform 3. | VSP_021291 | |||||
| Natural variant | 20 | 1 | R → G. Ref.5 Corresponds to variant rs17856488 [ dbSNP | Ensembl ]. | VAR_031202 | |||||
| Natural variant | 737 | 1 | R → W. Corresponds to variant rs60152725 [ dbSNP | Ensembl ]. | VAR_061594 | |||||
Experimental info | |||||||||
| Sequence conflict | 644 | 1 | R → Q in CAB61405. Ref.6 | ||||||
| Isoform 3: | |||||||||
| Sequence conflict | 49 | 1 | P → T in AAH40704. Ref.5 | ||||||
Sequences
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References
Cross-references
Sequence databases | |
|---|---|
| EMBL GenBank DDBJ | 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. |
| IPI | IPI00658145. IPI00797616. IPI00798399. |
| PIR | T42692. |
| RefSeq | NP_689956.2. NM_152743.3. |
| UniGene | Hs.520623. |
3D structure databases | |
| ProteinModelPortal | Q6PJG6. |
| ModBase | Search... |
Protein-protein interaction databases | |
| STRING | 9606.ENSP00000339637. |
PTM databases | |
| PhosphoSite | Q6PJG6. |
Polymorphism databases | |
| DMDM | 134047724. |
Proteomic databases | |
| PaxDb | Q6PJG6. |
| PRIDE | Q6PJG6. |
Protocols and materials databases | |
| StructuralBiologyKnowledgebase | Search... |
Genome annotation databases | |
| Ensembl | ENST00000340611; ENSP00000339637; ENSG00000106009. |
| GeneID | 221927. |
| KEGG | hsa:221927. |
| UCSC | uc003smh.4. human. uc003smi.3. human. uc003smj.2. human. |
Organism-specific databases | |
| CTD | 221927. |
| GeneCards | GC07M002577. |
| HGNC | HGNC:21701. BRAT1. |
| HPA | HPA029455. |
| MIM | 614498. phenotype. 614506. gene. |
| neXtProt | NX_Q6PJG6. |
| PharmGKB | PA134959439. |
| GenAtlas | Search... |
Phylogenomic databases | |
| eggNOG | NOG27983. |
| HOVERGEN | HBG062139. |
| InParanoid | Q6PJG6. |
| OMA | DLDWEVR. |
| OrthoDB | EOG4WSW8X. |
| PhylomeDB | Q6PJG6. |
Gene expression databases | |
| ArrayExpress | Q6PJG6. |
| Bgee | Q6PJG6. |
| CleanEx | HS_C7orf27. |
| Genevestigator | Q6PJG6. |
| GermOnline | ENSG00000106009. Homo sapiens. |
Family and domain databases | |
| Gene3D | 1.25.10.10. 1 hit. |
| InterPro | IPR011989. ARM-like. IPR016024. ARM-type_fold. IPR000357. HEAT. [Graphical view] |
| Pfam | PF02985. HEAT. 2 hits. [Graphical view] |
| SUPFAM | SSF48371. ARM-type_fold. 1 hit. |
| PROSITE | PS50077. HEAT_REPEAT. False negative. [Graphical view] |
| ProtoNet | Search... |
Other | |
| GenomeRNAi | 221927. |
| NextBio | 91494. |
| SOURCE | Search... |
Entry information
| Entry name | BRAT1_HUMAN | ||||||||
| Accession | Primary (citable) accession number: Q6PJG6 Secondary accession number(s): A4D200 Q9UFA3 | ||||||||
| Entry history |
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| Entry status | Reviewed (UniProtKB/Swiss-Prot) | ||||||||
| Annotation program | Chordata Protein Annotation Program | ||||||||
| Disclaimer | Any 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. | ||||||||
Relevant documents
| Human chromosome 7 Human chromosome 7: entries, gene names and cross-references to MIM |
| Human entries with polymorphisms or disease mutations List of human entries with polymorphisms or disease mutations |
| Human polymorphisms and disease mutations Index of human polymorphisms and disease mutations |
| MIM cross-references Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot |
| SIMILARITY comments Index of protein domains and families |

Clusters with
