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UniProtKB - Q9NWV8 (BABA1_HUMAN)

Entry version 140 (13 Feb 2019)
Sequence version 1 (01 Oct 2000)
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Protein

BRISC and BRCA1-A complex member 1

Gene

BABAM1

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. In the BRCA1-A complex, it is required for the complex integrity and its localization at DSBs. Component of the BRISC complex, a multiprotein complex that specifically cleaves 'Lys-63'-linked ubiquitin in various substrates (PubMed:24075985, PubMed:26195665). In these 2 complexes, it is probably required to maintain the stability of BABAM2 and help the 'Lys-63'-linked deubiquitinase activity mediated by BRCC3/BRCC36 component. The BRISC complex is required for normal mitotic spindle assembly and microtubule attachment to kinetochores via its role in deubiquitinating NUMA1 (PubMed:26195665). 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).3 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

View the 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 processCell cycle, Cell division, DNA damage, DNA repair, Mitosis, Ubl conjugation pathway

Enzyme and pathway databases

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_and_taxonomy_section">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 1
Alternative name(s):
Mediator of RAP80 interactions and targeting subunit of 40 kDa1 Publication
New component of the BRCA1-A complex1 Publication
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">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:BABAM1
Synonyms:C19orf62, MERIT401 Publication, NBA11 Publication
ORF Names:HSPC142
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">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_and_taxonomy_section">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_and_taxonomy_section">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_and_taxonomy_section">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_manual">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 19

Organism-specific databases

Eukaryotic Pathogen Database Resources

More...EuPathDBi		HostDB:ENSG00000105393.15

Human Gene Nomenclature Database

More...HGNCi		HGNC:25008 BABAM1

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		612766 gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_Q9NWV8

<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

Organism-specific databases

DisGeNET

More...DisGeNETi		29086

Open Targets

More...OpenTargetsi		ENSG00000105393

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA162378767

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		BABAM1

Domain mapping of disease mutations (DMDM)

More...DMDMi		74734678

<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.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00002884581 – 329BRISC and BRCA1-A complex member 1Add BLAST329

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 residuei8PhosphoserineBy similarity1
Modified residuei29PhosphoserineCombined sources1
Modified residuei49PhosphoserineCombined sources1
Modified residuei57PhosphoserineCombined sources1
Modified residuei62PhosphoserineCombined sources1
Modified residuei65PhosphothreonineCombined sources1
Modified residuei66PhosphoserineCombined sources1

Keywords - PTMi

Acetylation, Phosphoprotein

Proteomic databases

Encyclopedia of Proteome Dynamics

More...EPDi		Q9NWV8

jPOST - Japan Proteome Standard Repository/Database

More...jPOSTi		Q9NWV8

MaxQB - The MaxQuant DataBase

More...MaxQBi		Q9NWV8

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

More...PaxDbi		Q9NWV8

PeptideAtlas

More...PeptideAtlasi		Q9NWV8

PRoteomics IDEntifications database

More...PRIDEi		Q9NWV8

ProteomicsDB human proteome resource

More...ProteomicsDBi		82986
82987 [Q9NWV8-2]
82988 [Q9NWV8-3]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		Q9NWV8

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

More...PhosphoSitePlusi		Q9NWV8

<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

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...Bgeei		ENSG00000105393 Expressed in 223 organ(s), highest expression level in anterior cingulate cortex

ExpressionAtlas, Differential and Baseline Expression

More...ExpressionAtlasi		Q9NWV8 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		Q9NWV8 HS

Organism-specific databases

Human Protein Atlas

More...HPAi		HPA054386
HPA068786

<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_section">'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_section">'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:24075985). Component of the BRCA1-A complex, at least composed of BRCA1, BARD1, UIMC1/RAP80, ABRAXAS1, BRCC3/BRCC36, BABAM2 and BABAM1/NBA1 (PubMed:19261746, PubMed:19261749, PubMed:19261748, PubMed:21282113). In the BRCA1-A complex, interacts directly with ABRAXAS1 and BABAM2 (PubMed:19261749, PubMed:19261748). 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).7 Publications

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction_section%27">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="http://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated on a monthly basis. Each binary interaction is displayed on a separate line.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

More...BioGridi		118855, 71 interactors

The Eukaryotic Linear Motif resource for Functional Sites in Proteins

More...ELMi		Q9NWV8

Protein interaction database and analysis system

More...IntActi		Q9NWV8, 57 interactors

Molecular INTeraction database

More...MINTi		Q9NWV8

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000352408

Chemistry databases

BindingDB database of measured binding affinities

More...BindingDBi		Q9NWV8

<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

Protein Model Portal of the PSI-Nature Structural Biology Knowledgebase

More...ProteinModelPortali		Q9NWV8

Database of comparative protein structure models

More...ModBasei		Search...

MobiDB: a database of protein disorder and mobility annotations

More...MobiDBi		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>Regioni95 – 298VWFA-likeAdd BLAST204

<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

The VWFA-like region is similar to the VWFA domain. Its presence reveals similarities between the structure of the 19S proteasome and the BRCA1-A complexes.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 BABAM1 family.Curated

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...eggNOGi		ENOG410IF7E Eukaryota
ENOG4111NFW LUCA

Ensembl GeneTree

More...GeneTreei		ENSGT00390000016934

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		Q9NWV8

KEGG Orthology (KO)

More...KOi		K20776

Identification of Orthologs from Complete Genome Data

More...OMAi		RPFQSHA

Database of Orthologous Groups

More...OrthoDBi		1583424at2759

Database for complete collections of gene phylogenies

More...PhylomeDBi		Q9NWV8

TreeFam database of animal gene trees

More...TreeFami		TF329070

Family and domain databases

Integrated resource of protein families, domains and functional sites

More...InterProi		View protein in InterPro
IPR026126 BABAM1
IPR036465 vWFA_dom_sf

The PANTHER Classification System

More...PANTHERi		PTHR15660 PTHR15660, 1 hit

Superfamily database of structural and functional annotation

More...SUPFAMi		SSF53300 SSF53300, 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_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>.<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_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">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.<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 11 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q9NWV8-1) [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
MEVAEPSSPT EEEEEEEEHS AEPRPRTRSN PEGAEDRAVG AQASVGSRSE 
        60         70         80         90        100
GEGEAASADD GSLNTSGAGP KSWQVPPPAP EVQIRTPRVN CPEKVIICLD 
       110        120        130        140        150
LSEEMSLPKL ESFNGSKTNA LNVSQKMIEM FVRTKHKIDK SHEFALVVVN 
       160        170        180        190        200
DDTAWLSGLT SDPRELCSCL YDLETASCST FNLEGLFSLI QQKTELPVTE 
       210        220        230        240        250
NVQTIPPPYV VRTILVYSRP PCQPQFSLTE PMKKMFQCPY FFFDVVYIHN 
       260        270        280        290        300
GTEEKEEEMS WKDMFAFMGS LDTKGTSYKY EVALAGPALE LHNCMAKLLA 
       310        320 
HPLQRPCQSH ASYSLLEEED EAIEVEATV
Length:329
Mass (Da):36,560
Last modified:October 1, 2000 - v1
<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:i7A84D8EE6D03C1DB
GO
Isoform 2 (identifier: Q9NWV8-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-115: MEVAEPSSPT...SLPKLESFNG → MMGASTLQEP...HHGSTVQRKC
     263-329: Missing.

Note: No experimental confirmation available.
Show »
Length:184
Mass (Da):21,028
Checksum:iFC1769F1757DAC76
GO
Isoform 3 (identifier: Q9NWV8-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     116-190: Missing.
     234-329: KMFQCPYFFF...DEAIEVEATV → VGEAWEREGCLQP

Note: No experimental confirmation available.
Show »
Length:171
Mass (Da):18,621
Checksum:i1848B7FE13066DF1
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 11 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
J3KQS6J3KQS6_HUMAN
BRISC and BRCA1-A complex member 1
BABAM1
254Annotation 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>
M0R0I0M0R0I0_HUMAN
BRISC and BRCA1-A complex member 1
BABAM1
225Annotation 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>
M0R2K3M0R2K3_HUMAN
BRISC and BRCA1-A complex member 1
BABAM1
200Annotation 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>
M0R193M0R193_HUMAN
BRISC and BRCA1-A complex member 1
BABAM1
218Annotation 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>
M0R2A4M0R2A4_HUMAN
BRISC and BRCA1-A complex member 1
BABAM1
193Annotation 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>
M0R3F4M0R3F4_HUMAN
BRISC and BRCA1-A complex member 1
BABAM1
181Annotation 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>
M0R2I2M0R2I2_HUMAN
BRISC and BRCA1-A complex member 1
BABAM1
237Annotation 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>
M0QYV1M0QYV1_HUMAN
BRISC and BRCA1-A complex member 1
BABAM1
97Annotation 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>
M0R3H9M0R3H9_HUMAN
BRISC and BRCA1-A complex member 1
BABAM1
60Annotation 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>
M0QXG9M0QXG9_HUMAN
BRISC and BRCA1-A complex member 1
BABAM1
108Annotation 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>
There is more potential isoformShow all

<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 AAF29106 differs from that shown. Reason: Frameshift at position 263.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 conflicti76P → S in CAG38557 (Ref. 4) Curated1
Sequence conflicti288A → V in CAG38557 (Ref. 4) Curated1
Sequence conflicti302P → S in CAG38557 (Ref. 4) 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_0372461 – 115MEVAE…ESFNG → MMGASTLQEPALSPGRCPRQ PLRSKFGHHGSTVQRKC in isoform 2. 1 PublicationAdd BLAST115
Alternative sequenceiVSP_037247116 – 190Missing in isoform 3. 1 PublicationAdd BLAST75
Alternative sequenceiVSP_037248234 – 329KMFQC…VEATV → VGEAWEREGCLQP in isoform 3. 1 PublicationAdd BLAST96
Alternative sequenceiVSP_037249263 – 329Missing in isoform 2. 1 PublicationAdd BLAST67

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
AF161491 mRNA Translation: AAF29106.1 Frameshift.
AL136692 mRNA Translation: CAB66627.1
AK000578 mRNA Translation: BAA91268.1
AK299493 mRNA Translation: BAG61451.1
AK301193 mRNA Translation: BAG62773.1
CR533526 mRNA Translation: CAG38557.1
AC104522 Genomic DNA No translation available.
BC000788 mRNA Translation: AAH00788.1
BC006244 mRNA Translation: AAH06244.1
BC091491 mRNA Translation: AAH91491.1

The Consensus CDS (CCDS) project

More...CCDSi		CCDS46012.1 [Q9NWV8-1]

NCBI Reference Sequences

More...RefSeqi		NP_001028721.1, NM_001033549.2 [Q9NWV8-1]
NP_001275685.1, NM_001288756.1 [Q9NWV8-1]
NP_001275686.1, NM_001288757.1
NP_054892.2, NM_014173.3 [Q9NWV8-1]

UniGene gene-oriented nucleotide sequence clusters

More...UniGenei		Hs.190722

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000359435; ENSP00000352408; ENSG00000105393 [Q9NWV8-1]
ENST00000598188; ENSP00000471605; ENSG00000105393 [Q9NWV8-1]
ENST00000601043; ENSP00000470920; ENSG00000105393 [Q9NWV8-1]

Database of genes from NCBI RefSeq genomes

More...GeneIDi		29086

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:29086

UCSC genome browser

More...UCSCi		uc002nfu.5 human [Q9NWV8-1]

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

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF161491 mRNA Translation: AAF29106.1 Frameshift.
AL136692 mRNA Translation: CAB66627.1
AK000578 mRNA Translation: BAA91268.1
AK299493 mRNA Translation: BAG61451.1
AK301193 mRNA Translation: BAG62773.1
CR533526 mRNA Translation: CAG38557.1
AC104522 Genomic DNA No translation available.
BC000788 mRNA Translation: AAH00788.1
BC006244 mRNA Translation: AAH06244.1
BC091491 mRNA Translation: AAH91491.1
CCDSiCCDS46012.1 [Q9NWV8-1]
RefSeqiNP_001028721.1, NM_001033549.2 [Q9NWV8-1]
NP_001275685.1, NM_001288756.1 [Q9NWV8-1]
NP_001275686.1, NM_001288757.1
NP_054892.2, NM_014173.3 [Q9NWV8-1]
UniGeneiHs.190722

3D structure databases

ProteinModelPortaliQ9NWV8
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi118855, 71 interactors
ELMiQ9NWV8
IntActiQ9NWV8, 57 interactors
MINTiQ9NWV8
STRINGi9606.ENSP00000352408

Chemistry databases

BindingDBiQ9NWV8

PTM databases

iPTMnetiQ9NWV8
PhosphoSitePlusiQ9NWV8

Polymorphism and mutation databases

BioMutaiBABAM1
DMDMi74734678

Proteomic databases

EPDiQ9NWV8
jPOSTiQ9NWV8
MaxQBiQ9NWV8
PaxDbiQ9NWV8
PeptideAtlasiQ9NWV8
PRIDEiQ9NWV8
ProteomicsDBi82986
82987 [Q9NWV8-2]
82988 [Q9NWV8-3]

Protocols and materials databases

The DNASU plasmid repository

More...DNASUi		29086
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000359435; ENSP00000352408; ENSG00000105393 [Q9NWV8-1]
ENST00000598188; ENSP00000471605; ENSG00000105393 [Q9NWV8-1]
ENST00000601043; ENSP00000470920; ENSG00000105393 [Q9NWV8-1]
GeneIDi29086
KEGGihsa:29086
UCSCiuc002nfu.5 human [Q9NWV8-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		29086
DisGeNETi29086
EuPathDBiHostDB:ENSG00000105393.15

GeneCards: human genes, protein and diseases

More...GeneCardsi		BABAM1

H-Invitational Database, human transcriptome db

More...H-InvDBi		HIX0014885
HGNCiHGNC:25008 BABAM1
HPAiHPA054386
HPA068786
MIMi612766 gene
neXtProtiNX_Q9NWV8
OpenTargetsiENSG00000105393
PharmGKBiPA162378767

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiENOG410IF7E Eukaryota
ENOG4111NFW LUCA
GeneTreeiENSGT00390000016934
InParanoidiQ9NWV8
KOiK20776
OMAiRPFQSHA
OrthoDBi1583424at2759
PhylomeDBiQ9NWV8
TreeFamiTF329070

Enzyme and pathway databases

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

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

More...ChiTaRSi		BABAM1 human

The Gene Wiki collection of pages on human genes and proteins

More...GeneWikii		C19orf62

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

More...GenomeRNAii		29086

Protein Ontology

More...PROi		PR:Q9NWV8

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000105393 Expressed in 223 organ(s), highest expression level in anterior cingulate cortex
ExpressionAtlasiQ9NWV8 baseline and differential
GenevisibleiQ9NWV8 HS

Family and domain databases

InterProiView protein in InterPro
IPR026126 BABAM1
IPR036465 vWFA_dom_sf
PANTHERiPTHR15660 PTHR15660, 1 hit
SUPFAMiSSF53300 SSF53300, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

More...ProtoNeti		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 nameiBABA1_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: Q9NWV8
Secondary accession number(s): A8MQT0
, B4DRY9, B4DVR1, Q6FIA0, Q9P018
<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_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: May 29, 2007
Last sequence update: October 1, 2000
Last modified: February 13, 2019
This is version 140 of the entry and version 1 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

Complete proteome, Reference proteome

Documents

  1. Human chromosome 19
    Human chromosome 19: entries, gene names and cross-references to MIM
  2. SIMILARITY comments
    Index of protein domains and families
  3. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
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