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UniProtKB - Q9NXR7 (BABA2_HUMAN)

Entry version 159 (07 Apr 2021)
Sequence version 2 (05 May 2009)
Previous versions | rss
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Protein

BRISC and BRCA1-A complex member 2

Gene

BABAM2

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

Component of the BRCA1-A complex, a complex that specifically recognizes 'Lys-63'-linked ubiquitinated histones H2A and H2AX at DNA lesions sites, leading to target the BRCA1-BARD1 heterodimer to sites of DNA damage at double-strand breaks (DSBs). The BRCA1-A complex also possesses deubiquitinase activity that specifically removes 'Lys-63'-linked ubiquitin on histones H2A and H2AX (PubMed:17525341, PubMed:19261746, PubMed:19261749, PubMed:19261748). In the BRCA1-A complex, it acts as an adapter that bridges the interaction between BABAM1/NBA1 and the rest of the complex, thereby being required for the complex integrity and modulating the E3 ubiquitin ligase activity of the BRCA1-BARD1 heterodimer (PubMed:21282113, PubMed:19261748). Component of the BRISC complex, a multiprotein complex that specifically cleaves 'Lys-63'-linked ubiquitin in various substrates (PubMed:19214193, PubMed:24075985, PubMed:25283148, PubMed:26195665). Within the BRISC complex, acts as an adapter that bridges the interaction between BABAM1/NBA1 and the rest of the complex, thereby being required for the complex integrity (PubMed:21282113). The BRISC complex is required for normal mitotic spindle assembly and microtubule attachment to kinetochores via its role in deubiquitinating NUMA1 (PubMed:26195665). The BRISC complex plays a role in interferon signaling via its role in the deubiquitination of the interferon receptor IFNAR1; deubiquitination increases IFNAR1 activity by enhancing its stability and cell surface expression (PubMed:24075985). Down-regulates the response to bacterial lipopolysaccharide (LPS) via its role in IFNAR1 deubiquitination (PubMed:24075985). May play a role in homeostasis or cellular differentiation in cells of neural, epithelial and germline origins. May also act as a death receptor-associated anti-apoptotic protein, which inhibits the mitochondrial apoptotic pathway. May regulate TNF-alpha signaling through its interactions with TNFRSF1A; however these effects may be indirect (PubMed:15465831).1 Publication5 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 - Molecular functioni

Complete GO annotation on QuickGO ...

GO - Biological processi

Complete GO annotation on QuickGO ...

<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

Molecular functionChromatin regulator
Biological processApoptosis, Cell cycle, Cell division, DNA damage, DNA repair, Mitosis, Ubl conjugation pathway

Enzyme and pathway databases

Pathway Commons web resource for biological pathway data

More...PathwayCommonsi		Q9NXR7

Reactome - a knowledgebase of biological pathways and processes

More...Reactomei		R-HSA-5689901, Metalloprotease DUBs
R-HSA-5693565, Recruitment and ATM-mediated phosphorylation of repair and signaling proteins at DNA double strand breaks
R-HSA-5693571, Nonhomologous End-Joining (NHEJ)
R-HSA-5693607, Processing of DNA double-strand break ends
R-HSA-69473, G2/M DNA damage checkpoint

<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:
BRISC and BRCA1-A complex member 2Imported
Alternative name(s):
BRCA1-A complex subunit BRE
BRCA1/BRCA2-containing complex subunit 451 Publication
Brain and reproductive organ-expressed protein1 Publication
<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:BABAM2Imported
Synonyms:BRCC45, BRE
<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 lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
<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 2

Organism-specific databases

Human Gene Nomenclature Database

More...HGNCi		HGNC:1106, BABAM2

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		610497, gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_Q9NXR7

Eukaryotic Pathogen, Vector and Host Database Resources

More...VEuPathDBi		HostDB:ENSG00000158019.20

<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

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

Organism-specific databases

DisGeNET

More...DisGeNETi		9577

Open Targets

More...OpenTargetsi		ENSG00000158019

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA25419

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...Pharosi		Q9NXR7, Tbio

Genetic variation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		BABAM2

Domain mapping of disease mutations (DMDM)

More...DMDMi		229462810

<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_00002241891 – 383BRISC and BRCA1-A complex member 2Add BLAST383

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 residuei1N-acetylmethionineCombined sources1
Modified residuei2PhosphoserineCombined sources1

Keywords - PTMi

Acetylation, Phosphoprotein

Proteomic databases

Encyclopedia of Proteome Dynamics

More...EPDi		Q9NXR7

jPOST - Japan Proteome Standard Repository/Database

More...jPOSTi		Q9NXR7

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...MassIVEi		Q9NXR7

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

More...PaxDbi		Q9NXR7

PeptideAtlas

More...PeptideAtlasi		Q9NXR7

PRoteomics IDEntifications database

More...PRIDEi		Q9NXR7

ProteomicsDB: a multi-organism proteome resource

More...ProteomicsDBi		83124 [Q9NXR7-2]
83125 [Q9NXR7-1]
83126 [Q9NXR7-3]
83127 [Q9NXR7-4]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		Q9NXR7

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

More...PhosphoSitePlusi		Q9NXR7

<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

Expressed in all cell lines examined. Highly expressed in placenta.1 Publication

<p>This subsection of the 'Expression' section reports the experimentally proven effects of inducers and repressors (usually chemical compounds or environmental factors) on the level of protein (or mRNA) expression (up-regulation, down-regulation, constitutive expression).<p><a href='/help/induction' target='_top'>More...</a></p>Inductioni

Down-regulated by DNA-damaging agents in fibroblasts, by retinoic acid in brain glioma U-251MG and promyelocytic HL-60 cell lines, and by bacterial lipopolysaccharides (LPS) in peripheral blood mononuclear cells (PBMC).2 Publications

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...Bgeei		ENSG00000158019, Expressed in right adrenal gland and 234 other tissues

ExpressionAtlas, Differential and Baseline Expression

More...ExpressionAtlasi		Q9NXR7, baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		Q9NXR7, HS

Organism-specific databases

Human Protein Atlas

More...HPAi		ENSG00000158019, Tissue enriched (adrenal)

<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

Component of the ARISC complex, at least composed of UIMC1/RAP80, ABRAXAS1, BRCC3/BRCC36, BABAM2 and BABAM1/NBA1 (PubMed:21282113, PubMed:24075985).

Component of the BRCA1-A complex, at least composed of BRCA1, BARD1, UIMC1/RAP80, ABRAXAS1, BRCC3/BRCC36, BABAM2 and BABAM1/NBA1. In the BRCA1-A complex, interacts directly with ABRAXAS1, BRCC3/BRCC36 and BABAM1/NBA1. Binds polyubiquitin.

Component of the BRISC complex, at least composed of ABRAXAS2, BRCC3/BRCC36, BABAM2 and BABAM1/NBA1 (PubMed:19214193, PubMed:21282113, PubMed:24075985, PubMed:25283148).

Identified in a complex with SHMT2 and the other subunits of the BRISC complex (PubMed:24075985).

Component of the BRCA1/BRCA2 containing complex (BRCC), which also contains BRCA1, BRCA2, BARD1, BRCC3/BRCC36 and RAD51. BRCC is a ubiquitin E3 ligase complex that enhances cellular survival following DNA damage. May interact with FAS and TNFRSF1A (PubMed:15465831).

1 Publication8 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

GO - Molecular functioni

Complete GO annotation on QuickGO ...

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGRID)

More...BioGRIDi		114946, 70 interactors

ComplexPortal: manually curated resource of macromolecular complexes

More...ComplexPortali		CPX-4425, BRCA1-A complex
CPX-955, BRCC ubiquitin ligase complex

CORUM comprehensive resource of mammalian protein complexes

More...CORUMi		Q9NXR7

Protein interaction database and analysis system

More...IntActi		Q9NXR7, 31 interactors

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000343412

Chemistry databases

BindingDB database of measured binding affinities

More...BindingDBi		Q9NXR7

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...RNActi		Q9NXR7, 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		Q9NXR7

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

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>Regioni30 – 147UEV-like 1Add BLAST118
Regioni275 – 364UEV-like 2Add BLAST90

<p>This subsection of the 'Family and domains' section provides general information on the biological role of a domain. The term 'domain' is intended here in its wide acceptation, it may be a structural domain, a transmembrane region or a functional domain. Several domains are described in this subsection.<p><a href='/help/domain_cc' target='_top'>More...</a></p>Domaini

Contains 2 ubiquitin-conjugating enzyme family-like (UEV-like) regions. These regions lack the critical Cys residues required for ubiquitination but retain the ability to bind ubiquitin.1 Publication

<p>This subsection of the 'Family and domains' section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Belongs to the BABAM2 family.Sequence analysis

Keywords - Domaini

Repeat

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...eggNOGi		ENOG502QUU0, Eukaryota

Ensembl GeneTree

More...GeneTreei		ENSGT00390000004208

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...HOGENOMi		CLU_057019_0_0_1

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		Q9NXR7

Identification of Orthologs from Complete Genome Data

More...OMAi		LVQWDAG

Database for complete collections of gene phylogenies

More...PhylomeDBi		Q9NXR7

TreeFam database of animal gene trees

More...TreeFami		TF328507

Family and domain databases

Integrated resource of protein families, domains and functional sites

More...InterProi		View protein in InterPro
IPR010358, BRE

The PANTHER Classification System

More...PANTHERi		PTHR15189, PTHR15189, 1 hit

Pfam protein domain database

More...Pfami		View protein in Pfam
PF06113, BRE, 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 (4+)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 4 <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
Note: Additional isoforms may exist.Curated

This entry has 4 described isoforms and 3 potential isoforms that are computationally mapped.Show allAlign All

Isoform 21 Publication (identifier: Q9NXR7-2) [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
MSPEVALNRI SPMLSPFISS VVRNGKVGLD ATNCLRITDL KSGCTSLTPG 
        60         70         80         90        100
PNCDRFKLHI PYAGETLKWD IIFNAQYPEL PPDFIFGEDA EFLPDPSALQ 
       110        120        130        140        150
NLASWNPSNP ECLLLVVKEL VQQYHQFQCS RLRESSRLMF EYQTLLEEPQ 
       160        170        180        190        200
YGENMEIYAG KKNNWTGEFS ARFLLKLPVD FSNIPTYLLK DVNEDPGEDV 
       210        220        230        240        250
ALLSVSFEDT EATQVYPKLY LSPRIEHALG GSSALHIPAF PGGGCLIDYV 
       260        270        280        290        300
PQVCHLLTNK VQYVIQGYHK RREYIAAFLS HFGTGVVEYD AEGFTKLTLL 
       310        320        330        340        350
LMWKDFCFLV HIDLPLFFPR DQPTLTFQSV YHFTNSGQLY SQAQKNYPYS 
       360        370        380 
PRWDGNEMAK RAKAYFKTFV PQFQEAAFAN GKL
Length:383
Mass (Da):43,552
Last modified:May 5, 2009 - 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:iD830226E2B8F2C4B
GO
Isoform 1Curated (identifier: Q9NXR7-1) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     364-383: AYFKTFVPQFQEAAFANGKL → GCQGSRDACSPWEQVLAFAVAKTGCKLLQPQRNWPSSRGPPWRASEGERTAQ

Show »
Length:415
Mass (Da):46,974
Checksum:i0501C5447AAFB3BA
GO
Isoform 31 Publication (identifier: Q9NXR7-3) [UniParc]FASTAAdd to basket
Also known as: Alpha a'

The sequence of this isoform differs from the canonical sequence as follows:
     363-383: KAYFKTFVPQFQEAAFANGKL → NSRRQHLPMESSRKHQS

Show »
Length:379
Mass (Da):43,224
Checksum:i2A8816CC439FDFB5
GO
Isoform 4 (identifier: Q9NXR7-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     364-383: AYFKTFVPQFQEAAFANGKL → RESNRDGEESSSA

Show »
Length:376
Mass (Da):42,697
Checksum:i56488D883F2A27AE
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 are 3 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
C9J2G0C9J2G0_HUMAN
BRCA1-A complex subunit BRE
BABAM2
153Annotation score:

Annotation score:2 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>
F8W733F8W733_HUMAN
BRCA1-A complex subunit BRE
BABAM2
284Annotation score:

Annotation score:2 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>
A0A075B7D2A0A075B7D2_HUMAN
BRCA1-A complex subunit BRE
BABAM2
166Annotation score:

Annotation score:2 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 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 conflicti192V → L in BAF83775 (PubMed:14702039).Curated1

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_051957363 – 383KAYFK…ANGKL → NSRRQHLPMESSRKHQS in isoform 3. 1 PublicationAdd BLAST21
Alternative sequenceiVSP_051956364 – 383AYFKT…ANGKL → GCQGSRDACSPWEQVLAFAV AKTGCKLLQPQRNWPSSRGP PWRASEGERTAQ in isoform 1. 1 PublicationAdd BLAST20
Alternative sequenceiVSP_037261364 – 383AYFKT…ANGKL → RESNRDGEESSSA in isoform 4. 1 PublicationAdd BLAST20

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...EMBLi

GenBank nucleotide sequence database

More...GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...DDBJi
Links Updated
L38616 mRNA Translation: AAA64231.1
AF420605 mRNA Translation: AAL17818.1
AY438031 mRNA Translation: AAR30499.1
AF015767 mRNA Translation: AAB69387.1
AF420602 mRNA Translation: AAL17814.1
AF420603 mRNA Translation: AAL17816.1
AK000097 mRNA Translation: BAA90943.1
AK291086 mRNA Translation: BAF83775.1
AC021171 Genomic DNA Translation: AAY24156.1
AC093690 Genomic DNA No translation available.
AC096552 Genomic DNA Translation: AAX88935.1
CH471053 Genomic DNA Translation: EAX00545.1
CH471053 Genomic DNA Translation: EAX00546.1
CH471053 Genomic DNA Translation: EAX00547.1
CH471053 Genomic DNA Translation: EAX00548.1
BC001251 mRNA Translation: AAH01251.1

The Consensus CDS (CCDS) project

More...CCDSi		CCDS1763.1 [Q9NXR7-2]
CCDS1764.1 [Q9NXR7-1]
CCDS1765.1 [Q9NXR7-4]

Protein sequence database of the Protein Information Resource

More...PIRi		JC2472

NCBI Reference Sequences

More...RefSeqi		NP_001248769.1, NM_001261840.1 [Q9NXR7-3]
NP_001316041.1, NM_001329112.1 [Q9NXR7-2]
NP_001316042.1, NM_001329113.1 [Q9NXR7-1]
NP_004890.2, NM_004899.4 [Q9NXR7-1]
NP_954661.1, NM_199191.2 [Q9NXR7-2]
NP_954662.1, NM_199192.2 [Q9NXR7-4]
NP_954663.1, NM_199193.2 [Q9NXR7-4]
NP_954664.1, NM_199194.2 [Q9NXR7-2]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000342045; ENSP00000339371; ENSG00000158019 [Q9NXR7-2]
ENST00000344773; ENSP00000343412; ENSG00000158019 [Q9NXR7-1]
ENST00000361704; ENSP00000354699; ENSG00000158019 [Q9NXR7-4]
ENST00000379624; ENSP00000368945; ENSG00000158019 [Q9NXR7-2]
ENST00000379632; ENSP00000368953; ENSG00000158019 [Q9NXR7-4]

Database of genes from NCBI RefSeq genomes

More...GeneIDi		9577

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:9577

UCSC genome browser

More...UCSCi		uc002rlq.4, human [Q9NXR7-2]

Keywords - Coding sequence diversityi

Alternative splicing

<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

<p>This subsection of the <a href="http://www.uniprot.org/manual/cross%5Freferences%5Fsection">Cross-references</a> section provides links to various web resources that are relevant for a specific protein.<p><a href='/help/web_resource' target='_top'>More...</a></p>Web resourcesi

Atlas of Genetics and Cytogenetics in Oncology and Haematology

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
L38616 mRNA Translation: AAA64231.1
AF420605 mRNA Translation: AAL17818.1
AY438031 mRNA Translation: AAR30499.1
AF015767 mRNA Translation: AAB69387.1
AF420602 mRNA Translation: AAL17814.1
AF420603 mRNA Translation: AAL17816.1
AK000097 mRNA Translation: BAA90943.1
AK291086 mRNA Translation: BAF83775.1
AC021171 Genomic DNA Translation: AAY24156.1
AC093690 Genomic DNA No translation available.
AC096552 Genomic DNA Translation: AAX88935.1
CH471053 Genomic DNA Translation: EAX00545.1
CH471053 Genomic DNA Translation: EAX00546.1
CH471053 Genomic DNA Translation: EAX00547.1
CH471053 Genomic DNA Translation: EAX00548.1
BC001251 mRNA Translation: AAH01251.1
CCDSiCCDS1763.1 [Q9NXR7-2]
CCDS1764.1 [Q9NXR7-1]
CCDS1765.1 [Q9NXR7-4]
PIRiJC2472
RefSeqiNP_001248769.1, NM_001261840.1 [Q9NXR7-3]
NP_001316041.1, NM_001329112.1 [Q9NXR7-2]
NP_001316042.1, NM_001329113.1 [Q9NXR7-1]
NP_004890.2, NM_004899.4 [Q9NXR7-1]
NP_954661.1, NM_199191.2 [Q9NXR7-2]
NP_954662.1, NM_199192.2 [Q9NXR7-4]
NP_954663.1, NM_199193.2 [Q9NXR7-4]
NP_954664.1, NM_199194.2 [Q9NXR7-2]

3D structure databases

Select the link destinations:

Protein Data Bank Europe

More...PDBei

Protein Data Bank RCSB

More...RCSB PDBi

Protein Data Bank Japan

More...PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
6H3Celectron microscopy3.90C/H1-383[»]
6R8Felectron microscopy3.80E/G1-133[»]
SMRiQ9NXR7
ModBaseiSearch...
PDBe-KBiSearch...

Protein-protein interaction databases

BioGRIDi114946, 70 interactors
ComplexPortaliCPX-4425, BRCA1-A complex
CPX-955, BRCC ubiquitin ligase complex
CORUMiQ9NXR7
IntActiQ9NXR7, 31 interactors
STRINGi9606.ENSP00000343412

Chemistry databases

BindingDBiQ9NXR7

PTM databases

iPTMnetiQ9NXR7
PhosphoSitePlusiQ9NXR7

Genetic variation databases

BioMutaiBABAM2
DMDMi229462810

Proteomic databases

EPDiQ9NXR7
jPOSTiQ9NXR7
MassIVEiQ9NXR7
PaxDbiQ9NXR7
PeptideAtlasiQ9NXR7
PRIDEiQ9NXR7
ProteomicsDBi83124 [Q9NXR7-2]
83125 [Q9NXR7-1]
83126 [Q9NXR7-3]
83127 [Q9NXR7-4]

Protocols and materials databases

Antibodypedia a portal for validated antibodies

More...Antibodypediai		13903, 248 antibodies

The DNASU plasmid repository

More...DNASUi		9577

Genome annotation databases

EnsembliENST00000342045; ENSP00000339371; ENSG00000158019 [Q9NXR7-2]
ENST00000344773; ENSP00000343412; ENSG00000158019 [Q9NXR7-1]
ENST00000361704; ENSP00000354699; ENSG00000158019 [Q9NXR7-4]
ENST00000379624; ENSP00000368945; ENSG00000158019 [Q9NXR7-2]
ENST00000379632; ENSP00000368953; ENSG00000158019 [Q9NXR7-4]
GeneIDi9577
KEGGihsa:9577
UCSCiuc002rlq.4, human [Q9NXR7-2]

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		9577
DisGeNETi9577

GeneCards: human genes, protein and diseases

More...GeneCardsi		BABAM2
HGNCiHGNC:1106, BABAM2
HPAiENSG00000158019, Tissue enriched (adrenal)
MIMi610497, gene
neXtProtiNX_Q9NXR7
OpenTargetsiENSG00000158019
PharmGKBiPA25419
VEuPathDBiHostDB:ENSG00000158019.20

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiENOG502QUU0, Eukaryota
GeneTreeiENSGT00390000004208
HOGENOMiCLU_057019_0_0_1
InParanoidiQ9NXR7
OMAiLVQWDAG
PhylomeDBiQ9NXR7
TreeFamiTF328507

Enzyme and pathway databases

PathwayCommonsiQ9NXR7
ReactomeiR-HSA-5689901, Metalloprotease DUBs
R-HSA-5693565, Recruitment and ATM-mediated phosphorylation of repair and signaling proteins at DNA double strand breaks
R-HSA-5693571, Nonhomologous End-Joining (NHEJ)
R-HSA-5693607, Processing of DNA double-strand break ends
R-HSA-69473, G2/M DNA damage checkpoint

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

More...BioGRID-ORCSi		9577, 13 hits in 1004 CRISPR screens

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

More...ChiTaRSi		BRE, human

The Gene Wiki collection of pages on human genes and proteins

More...GeneWikii		BRE_(gene)

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

More...GenomeRNAii		9577
PharosiQ9NXR7, Tbio

Protein Ontology

More...PROi		PR:Q9NXR7
RNActiQ9NXR7, protein

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000158019, Expressed in right adrenal gland and 234 other tissues
ExpressionAtlasiQ9NXR7, baseline and differential
GenevisibleiQ9NXR7, HS

Family and domain databases

InterProiView protein in InterPro
IPR010358, BRE
PANTHERiPTHR15189, PTHR15189, 1 hit
PfamiView protein in Pfam
PF06113, BRE, 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 nameiBABA2_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: Q9NXR7
Secondary accession number(s): A8K4X1
, D6W562, D6W563, Q13880, Q4ZFX8, Q53SD0, Q969X9, Q96P06
<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: February 21, 2006
Last sequence update: May 5, 2009
Last modified: April 7, 2021
This is version 159 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 chromosome 2
    Human chromosome 2: entries, gene names and cross-references to MIM
  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. SIMILARITY comments
    Index of protein domains and families
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