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Entry version 134 (07 Oct 2020)
Sequence version 2 (20 Mar 2007)
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Protein

BRCA1-associated ATM activator 1

Gene

BRAT1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the 'protein existence' evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>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

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Biological processi

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Biological processDNA damage

Enzyme and pathway databases

Pathway Commons web resource for biological pathway data

More...
PathwayCommonsi
Q6PJG6

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
BRCA1-associated ATM activator 1
Alternative name(s):
BRCA1-associated protein required for ATM activation protein 1
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: 'Name', 'Synonyms', 'Ordered locus names' and 'ORF names'.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:BRAT1
Synonyms:BAAT1, C7orf27
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the 'taxonomic identifier' or 'taxid'.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes%5Fmanual">proteome</a> can consist of several components.<br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 7

Organism-specific databases

Eukaryotic Pathogen Database Resources

More...
EuPathDBi
HostDB:ENSG00000106009.15

Human Gene Nomenclature Database

More...
HGNCi
HGNC:21701, BRAT1

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
614506, gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q6PJG6

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>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 & Seán O’Donoghue; Source: COMPARTMENTS

Keywords - Cellular componenti

Cytoplasm, Nucleus

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the 'Pathology and Biotech' section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

Rigidity and multifocal seizure syndrome, lethal neonatal (RMFSL)2 Publications
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.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_081168140L → P in NEDCAS and RMFSL; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs1085307958EnsemblClinVar.1
Neurodevelopmental disorder with cerebellar atrophy and with or without seizures (NEDCAS)3 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn autosomal recessive disorder characterized by psychomotor developmental delay manifesting in infancy, cerebellar atrophy, decreased myelination, and seizures in most patients. Additional features include intellectual disability, ataxia or dyspraxia, hypertonia, hyperreflexia, poor or absent speech, microcephaly, subtle dysmorphisms, and visual impairment in some patients.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_081168140L → P in NEDCAS and RMFSL; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs1085307958EnsemblClinVar.1
Natural variantiVAR_081169609R → W in NEDCAS; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs886039312EnsemblClinVar.1
Natural variantiVAR_081170642A → E in NEDCAS; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs200502048EnsemblClinVar.1

Keywords - Diseasei

Disease mutation, Epilepsy

Organism-specific databases

DisGeNET

More...
DisGeNETi
221927

MalaCards human disease database

More...
MalaCardsi
BRAT1
MIMi614498, phenotype
618056, phenotype

Open Targets

More...
OpenTargetsi
ENSG00000106009

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...
Orphaneti
435845, Lethal neonatal spasticity-epileptic encephalopathy syndrome

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA134959439

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...
Pharosi
Q6PJG6, Tbio

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
BRAT1

Domain mapping of disease mutations (DMDM)

More...
DMDMi
134047724

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'PTM / Processing' section describes the extent of a polypeptide chain in the mature protein following processing or proteolytic cleavage.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00002552571 – 821BRCA1-associated ATM activator 1Add BLAST821

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'PTM / Processing' section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei742PhosphoserineCombined sources1

<p>This subsection of the <a href="http://www.uniprot.org/help/ptm%5Fprocessing%5Fsection">PTM/processing</a> section describes post-translational modifications (PTMs). This subsection <strong>complements</strong> the information provided at the sequence level or describes modifications for which <strong>position-specific data is not yet available</strong>.<p><a href='/help/post-translational_modification' target='_top'>More...</a></p>Post-translational modificationi

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

Keywords - PTMi

Phosphoprotein, Ubl conjugation

Proteomic databases

Encyclopedia of Proteome Dynamics

More...
EPDi
Q6PJG6

jPOST - Japan Proteome Standard Repository/Database

More...
jPOSTi
Q6PJG6

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...
MassIVEi
Q6PJG6

MaxQB - The MaxQuant DataBase

More...
MaxQBi
Q6PJG6

PaxDb, a database of protein abundance averages across all three domains of life

More...
PaxDbi
Q6PJG6

PeptideAtlas

More...
PeptideAtlasi
Q6PJG6

PRoteomics IDEntifications database

More...
PRIDEi
Q6PJG6

ProteomicsDB: a multi-organism proteome resource

More...
ProteomicsDBi
67203 [Q6PJG6-1]
67204 [Q6PJG6-2]
67205 [Q6PJG6-3]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
Q6PJG6

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...
PhosphoSitePlusi
Q6PJG6

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

<p>This subsection of the 'Expression' section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified 'at protein level'.<br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

Ubiquitously expressed.1 Publication

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000106009, Expressed in stomach and 138 other tissues

ExpressionAtlas, Differential and Baseline Expression

More...
ExpressionAtlasi
Q6PJG6, baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...
Genevisiblei
Q6PJG6, HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
ENSG00000106009, Low tissue specificity

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction%5Fsection">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function%5Fsection">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Interacts with BRCA1 and ATM.

Interacts with MTOR and RPTOR.

Interacts with NDFIP1.

Interacts with SMC1A and PRKDC.

4 Publications

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction%5Fsection">Interaction</a>' section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="https://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated at every <a href="http://www.uniprot.org/help/synchronization">UniProt release</a>.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

Hide details

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGRID)

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BioGRIDi
128767, 48 interactors

Protein interaction database and analysis system

More...
IntActi
Q6PJG6, 19 interactors

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000339637

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...
RNActi
Q6PJG6, protein

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

3D structure databases

SWISS-MODEL Repository - a database of annotated 3D protein structure models

More...
SMRi
Q6PJG6

Database of comparative protein structure models

More...
ModBasei
Search...

Protein Data Bank in Europe - Knowledge Base

More...
PDBe-KBi
Search...

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Family and Domains' section indicates the positions and types of repeated sequence motifs or repeated domains within the protein.<p><a href='/help/repeat' target='_top'>More...</a></p>Repeati495 – 531HEAT 1Add BLAST37
Repeati544 – 576HEAT 2Add BLAST33

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Family and Domains' section describes a region of interest that cannot be described in other subsections.<p><a href='/help/region' target='_top'>More...</a></p>Regioni100 – 200Required for interaction with NDFIP11 PublicationAdd BLAST101

Keywords - Domaini

Repeat

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

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eggNOGi
ENOG502QRW9, Eukaryota

Ensembl GeneTree

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GeneTreei
ENSGT00390000017551

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...
HOGENOMi
CLU_018926_1_0_1

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
Q6PJG6

KEGG Orthology (KO)

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KOi
K23112

Identification of Orthologs from Complete Genome Data

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OMAi
DPECSQL

Database of Orthologous Groups

More...
OrthoDBi
1337787at2759

Database for complete collections of gene phylogenies

More...
PhylomeDBi
Q6PJG6

TreeFam database of animal gene trees

More...
TreeFami
TF324349

Family and domain databases

Gene3D Structural and Functional Annotation of Protein Families

More...
Gene3Di
1.25.10.10, 1 hit

Intrinsically Disordered proteins with Extensive Annotations and Literature

More...
IDEALi
IID00611

Integrated resource of protein families, domains and functional sites

More...
InterProi
View protein in InterPro
IPR011989, ARM-like
IPR016024, ARM-type_fold
IPR038904, BRAT1
IPR000357, HEAT

The PANTHER Classification System

More...
PANTHERi
PTHR21331, PTHR21331, 1 hit

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF02985, HEAT, 2 hits

Superfamily database of structural and functional annotation

More...
SUPFAMi
SSF48371, SSF48371, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence%5Flength">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (3+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

This entry describes 3 <p>This subsection of the 'Sequence' section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform. This section is only present in reviewed entries, i.e. in UniProtKB/Swiss-Prot.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 3 described isoforms and 1 potential isoform that is computationally mapped.Show allAlign All

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

This isoform has been chosen as the <div> <p><b>What is the canonical sequence?</b><p><a href='/help/canonical_and_isoforms' target='_top'>More...</a></p>canonicali 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
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> 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.

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

Show »
Length:291
Mass (Da):31,676
Checksum:i3707108370D007AC
GO

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There is 1 potential isoform mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
F8WDN5F8WDN5_HUMAN
BRCA1-associated ATM activator 1
BRAT1
168Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

<p>This subsection of the 'Sequence' section reports difference(s) between the protein sequence shown in the UniProtKB entry and other available protein sequences derived from the same gene.<p><a href='/help/sequence_caution' target='_top'>More...</a></p>Sequence cautioni

The sequence BAB15772 differs from that shown. Reason: Erroneous initiation. Extended N-terminus.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>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_081168140L → P in NEDCAS and RMFSL; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs1085307958EnsemblClinVar.1
Natural variantiVAR_081169609R → W in NEDCAS; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs886039312EnsemblClinVar.1
Natural variantiVAR_081170642A → E in NEDCAS; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs200502048EnsemblClinVar.1
Natural variantiVAR_061594737R → W. Corresponds to variant dbSNP:rs60152725EnsemblClinVar.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting.<p><a href='/help/var_seq' target='_top'>More...</a></p>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:

EMBL nucleotide sequence database

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EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...
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

The Consensus CDS (CCDS) project

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CCDSi
CCDS5334.1 [Q6PJG6-1]

Protein sequence database of the Protein Information Resource

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PIRi
T42692

NCBI Reference Sequences

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RefSeqi
NP_689956.2, NM_152743.3 [Q6PJG6-1]

Genome annotation databases

Ensembl eukaryotic genome annotation project

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Ensembli
ENST00000340611; ENSP00000339637; ENSG00000106009 [Q6PJG6-1]

Database of genes from NCBI RefSeq genomes

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GeneIDi
221927

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:221927

UCSC genome browser

More...
UCSCi
uc003smi.4, human [Q6PJG6-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

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]

3D structure databases

Select the link destinations:

Protein Data Bank Europe

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PDBei

Protein Data Bank RCSB

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RCSB PDBi

Protein Data Bank Japan

More...
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
4IFIX-ray2.20B268-273[»]
SMRiQ6PJG6
ModBaseiSearch...
PDBe-KBiSearch...

Protein-protein interaction databases

BioGRIDi128767, 48 interactors
IntActiQ6PJG6, 19 interactors
STRINGi9606.ENSP00000339637

PTM databases

iPTMnetiQ6PJG6
PhosphoSitePlusiQ6PJG6

Polymorphism and mutation databases

BioMutaiBRAT1
DMDMi134047724

Proteomic databases

EPDiQ6PJG6
jPOSTiQ6PJG6
MassIVEiQ6PJG6
MaxQBiQ6PJG6
PaxDbiQ6PJG6
PeptideAtlasiQ6PJG6
PRIDEiQ6PJG6
ProteomicsDBi67203 [Q6PJG6-1]
67204 [Q6PJG6-2]
67205 [Q6PJG6-3]

Protocols and materials databases

Antibodypedia a portal for validated antibodies

More...
Antibodypediai
24393, 71 antibodies

Genome annotation databases

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

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
221927
DisGeNETi221927
EuPathDBiHostDB:ENSG00000106009.15

GeneCards: human genes, protein and diseases

More...
GeneCardsi
BRAT1
HGNCiHGNC:21701, BRAT1
HPAiENSG00000106009, Low tissue specificity
MalaCardsiBRAT1
MIMi614498, phenotype
614506, gene
618056, phenotype
neXtProtiNX_Q6PJG6
OpenTargetsiENSG00000106009
Orphaneti435845, Lethal neonatal spasticity-epileptic encephalopathy syndrome
PharmGKBiPA134959439

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiENOG502QRW9, Eukaryota
GeneTreeiENSGT00390000017551
HOGENOMiCLU_018926_1_0_1
InParanoidiQ6PJG6
KOiK23112
OMAiDPECSQL
OrthoDBi1337787at2759
PhylomeDBiQ6PJG6
TreeFamiTF324349

Enzyme and pathway databases

PathwayCommonsiQ6PJG6

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

More...
BioGRID-ORCSi
221927, 293 hits in 881 CRISPR screens

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

More...
ChiTaRSi
BRAT1, human

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

More...
GenomeRNAii
221927
PharosiQ6PJG6, Tbio

Protein Ontology

More...
PROi
PR:Q6PJG6
RNActiQ6PJG6, protein

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000106009, Expressed in stomach and 138 other tissues
ExpressionAtlasiQ6PJG6, baseline and differential
GenevisibleiQ6PJG6, HS

Family and domain databases

Gene3Di1.25.10.10, 1 hit
IDEALiIID00611
InterProiView protein in InterPro
IPR011989, ARM-like
IPR016024, ARM-type_fold
IPR038904, BRAT1
IPR000357, HEAT
PANTHERiPTHR21331, PTHR21331, 1 hit
PfamiView protein in Pfam
PF02985, HEAT, 2 hits
SUPFAMiSSF48371, SSF48371, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

More...
ProtoNeti
Search...

MobiDB: a database of protein disorder and mobility annotations

More...
MobiDBi
Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the 'Entry information' section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiBRAT1_HUMAN
<p>This subsection of the 'Entry information' section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called 'Primary (citable) accession number'.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: Q6PJG6
Secondary accession number(s): A4D200
, C9JY24, Q8IW85, Q8IZ43, Q8WVR8, Q96IV9, Q9H7J8, Q9UFA3
<p>This subsection of the 'Entry information' section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification ('Last modified'). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: October 31, 2006
Last sequence update: March 20, 2007
Last modified: October 7, 2020
This is version 134 of the entry and version 2 of the sequence. See complete history.
<p>This subsection of the 'Entry information' section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>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.

<p>This section contains any relevant information that doesn't fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

3D-structure, Reference proteome

Documents

  1. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  2. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  3. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  4. Human chromosome 7
    Human chromosome 7: entries, gene names and cross-references to MIM
  5. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
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