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Entry version 204 (08 May 2019)
Sequence version 2 (17 Oct 2006)
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Protein

BRCA1-associated RING domain protein 1

Gene

BARD1

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

E3 ubiquitin-protein ligase. The BRCA1-BARD1 heterodimer specifically mediates the formation of 'Lys-6'-linked polyubiquitin chains and coordinates a diverse range of cellular pathways such as DNA damage repair, ubiquitination and transcriptional regulation to maintain genomic stability. Plays a central role in the control of the cell cycle in response to DNA damage. Acts by mediating ubiquitin E3 ligase activity that is required for its tumor suppressor function. Also forms a heterodimer with CSTF1/CSTF-50 to modulate mRNA processing and RNAP II stability by inhibiting pre-mRNA 3' cleavage.3 Publications

Caution

It is uncertain whether Met-1 or Met-26 is the initiator.Curated

<p>This subsection of the <a href="http://www.uniprot.org/help/function_section">Function</a> section describes the catalytic activity of an enzyme, i.e. a chemical reaction that the enzyme catalyzes.<p><a href='/help/catalytic_activity' target='_top'>More...</a></p>Catalytic activityi

<p>This subsection of the <a href="http://www.uniprot.org/help/function_section">'Function'</a> section describes the metabolic pathway(s) associated with a protein.<p><a href='/help/pathway' target='_top'>More...</a></p>Pathwayi: protein ubiquitination

This protein is involved in the pathway protein ubiquitination, which is part of Protein modification.
View all proteins of this organism that are known to be involved in the pathway protein ubiquitination and in Protein modification.

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Function’ section specifies the position(s) and type(s) of zinc fingers within the protein.<p><a href='/help/zn_fing' target='_top'>More...</a></p>Zinc fingeri50 – 87RING-typePROSITE-ProRule annotationAdd BLAST38

<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

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

Molecular functionTransferase
Biological processDNA damage, DNA repair, Ubl conjugation pathway
LigandMetal-binding, Zinc

Enzyme and pathway databases

Reactome - a knowledgebase of biological pathways and processes

More...
Reactomei
R-HSA-5685938 HDR through Single Strand Annealing (SSA)
R-HSA-5685942 HDR through Homologous Recombination (HRR)
R-HSA-5689603 UCH proteinases
R-HSA-5689901 Metalloprotease DUBs
R-HSA-5693554 Resolution of D-loop Structures through Synthesis-Dependent Strand Annealing (SDSA)
R-HSA-5693565 Recruitment and ATM-mediated phosphorylation of repair and signaling proteins at DNA double strand breaks
R-HSA-5693568 Resolution of D-loop Structures through Holliday Junction Intermediates
R-HSA-5693571 Nonhomologous End-Joining (NHEJ)
R-HSA-5693579 Homologous DNA Pairing and Strand Exchange
R-HSA-5693607 Processing of DNA double-strand break ends
R-HSA-5693616 Presynaptic phase of homologous DNA pairing and strand exchange
R-HSA-6804756 Regulation of TP53 Activity through Phosphorylation
R-HSA-69473 G2/M DNA damage checkpoint

SignaLink: a signaling pathway resource with multi-layered regulatory networks

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SignaLinki
Q99728

SIGNOR Signaling Network Open Resource

More...
SIGNORi
Q99728

UniPathway: a resource for the exploration and annotation of metabolic pathways

More...
UniPathwayi
UPA00143

<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:
BRCA1-associated RING domain protein 1 (EC:2.3.2.272 Publications)
Short name:
BARD-1
Alternative name(s):
RING-type E3 ubiquitin transferase BARD1Curated
<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:BARD1
<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 lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<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 2

Organism-specific databases

Human Gene Nomenclature Database

More...
HGNCi
HGNC:952 BARD1

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
601593 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q99728

<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

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
580

MalaCards human disease database

More...
MalaCardsi
BARD1

Open Targets

More...
OpenTargetsi
ENSG00000138376

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

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Orphaneti
145 Hereditary breast and ovarian cancer syndrome

The Pharmacogenetics and Pharmacogenomics Knowledge Base

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PharmGKBi
PA25256

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
BARD1

Domain mapping of disease mutations (DMDM)

More...
DMDMi
116241265

<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_00000558191 – 777BRCA1-associated RING domain protein 1Add BLAST777

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM / Processing</a> section describes <strong>covalent linkages</strong> of various types formed <strong>between two proteins (interchain cross-links)</strong> or <strong>between two parts of the same protein (intrachain cross-links)</strong>, except the disulfide bonds that are annotated in the <a href="http://www.uniprot.org/manual/disulfid">'Disulfide bond'</a> subsection.<p><a href='/help/crosslnk' target='_top'>More...</a></p>Cross-linki160Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Cross-linki170Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
<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 residuei186PhosphoserineCombined sources1
Modified residuei299PhosphothreonineCombined sources1
Modified residuei391PhosphoserineCombined sources1
Modified residuei394PhosphothreonineCombined sources1
Cross-linki423Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Cross-linki548Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources

<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">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

Processed during apoptosis. The homodimer is more susceptible to proteolytic cleavage than the BARD1/BRCA1 heterodimer.

Keywords - PTMi

Isopeptide bond, Phosphoprotein, Ubl conjugation

Proteomic databases

Encyclopedia of Proteome Dynamics

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EPDi
Q99728

jPOST - Japan Proteome Standard Repository/Database

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jPOSTi
Q99728

MaxQB - The MaxQuant DataBase

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MaxQBi
Q99728

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

More...
PaxDbi
Q99728

PeptideAtlas

More...
PeptideAtlasi
Q99728

PRoteomics IDEntifications database

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PRIDEi
Q99728

ProteomicsDB human proteome resource

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ProteomicsDBi
78442

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

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iPTMneti
Q99728

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

More...
PhosphoSitePlusi
Q99728

<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

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Bgeei
ENSG00000138376 Expressed in 210 organ(s), highest expression level in secondary oocyte

ExpressionAtlas, Differential and Baseline Expression

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ExpressionAtlasi
Q99728 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
Q99728 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
CAB034106
HPA035354
HPA044864

<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

Homo- and heterodimer. Heterodimer (RING-type zinc finger) with BRCA1. Heterodimer (via ANK repeats and BRCT domains) with CSTF1/CSTF-50. Component of the BRCA1-A complex, at least composed of the BRCA1, BARD1, UIMC1/RAP80, ABRAXAS1, BRCC3/BRCC36, BABAM2 and BABAM1/NBA1. Interacts with UBXN1.7 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

GO - Molecular functioni

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

More...
BioGridi
107056, 280 interactors

ComplexPortal: manually curated resource of macromolecular complexes

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ComplexPortali
CPX-955 BRCC ubiquitin ligase complex

CORUM comprehensive resource of mammalian protein complexes

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CORUMi
Q99728

Database of interacting proteins

More...
DIPi
DIP-5972N

Protein interaction database and analysis system

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IntActi
Q99728, 48 interactors

Molecular INTeraction database

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MINTi
Q99728

STRING: functional protein association networks

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STRINGi
9606.ENSP00000260947

Chemistry databases

BindingDB database of measured binding affinities

More...
BindingDBi
Q99728

<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

Secondary structure

1777
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

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

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PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
1JM7NMR-B26-140[»]
2NTEX-ray1.90A/B568-777[»]
2R1ZX-ray2.10A/B569-777[»]
3C5RX-ray2.00A/B425-555[»]
3FA2X-ray2.20A/B566-777[»]

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

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SMRi
Q99728

Database of comparative protein structure models

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ModBasei
Search...

MobiDB: a database of protein disorder and mobility annotations

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MobiDBi
Search...

Miscellaneous databases

Relative evolutionary importance of amino acids within a protein sequence

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EvolutionaryTracei
Q99728

<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>Repeati427 – 459ANK 1Add BLAST33
Repeati460 – 492ANK 2Add BLAST33
Repeati493 – 525ANK 3Add BLAST33
Repeati526 – 546ANK 4; degenerateAdd BLAST21
<p>This subsection of the <a href="http://www.uniprot.org/help/family_and_domains_section">Family and Domains</a> section describes the position and type of a domain, which is defined as a specific combination of secondary structures organized into a characteristic three-dimensional structure or fold.<p><a href='/help/domain' target='_top'>More...</a></p>Domaini560 – 653BRCT 1PROSITE-ProRule annotationAdd BLAST94
Domaini667 – 777BRCT 2PROSITE-ProRule annotationAdd BLAST111

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>Regioni26 – 119Interaction with BRCA1Add BLAST94
Regioni554 – 558Flexible linker5

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section describes the position of regions of compositional bias within the protein and the particular amino acids that are over-represented within those regions.<p><a href='/help/compbias' target='_top'>More...</a></p>Compositional biasi400 – 403Poly-Ser4
Compositional biasi542 – 545Poly-Leu4

Zinc finger

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Zinc fingeri50 – 87RING-typePROSITE-ProRule annotationAdd BLAST38

Keywords - Domaini

ANK repeat, Repeat, Zinc-finger

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

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eggNOGi
KOG0504 Eukaryota
KOG4362 Eukaryota
COG0666 LUCA

Ensembl GeneTree

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GeneTreei
ENSGT00940000156532

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

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HOGENOMi
HOG000237306

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
Q99728

KEGG Orthology (KO)

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KOi
K10683

Identification of Orthologs from Complete Genome Data

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OMAi
CYFYLGG

Database of Orthologous Groups

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OrthoDBi
854133at2759

Database for complete collections of gene phylogenies

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PhylomeDBi
Q99728

TreeFam database of animal gene trees

More...
TreeFami
TF326440

Family and domain databases

Conserved Domains Database

More...
CDDi
cd00204 ANK, 1 hit
cd00027 BRCT, 2 hits
cd16496 RING-HC_BARD1, 1 hit

Gene3D Structural and Functional Annotation of Protein Families

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Gene3Di
1.25.40.20, 1 hit
3.30.40.10, 1 hit
3.40.50.10190, 2 hits

Integrated resource of protein families, domains and functional sites

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InterProi
View protein in InterPro
IPR002110 Ankyrin_rpt
IPR020683 Ankyrin_rpt-contain_dom
IPR036770 Ankyrin_rpt-contain_sf
IPR039503 BARD1_Znf-RING
IPR001357 BRCT_dom
IPR036420 BRCT_dom_sf
IPR001841 Znf_RING
IPR013083 Znf_RING/FYVE/PHD
IPR017907 Znf_RING_CS

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF12796 Ank_2, 1 hit
PF14835 zf-RING_6, 1 hit

Protein Motif fingerprint database; a protein domain database

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PRINTSi
PR01415 ANKYRIN

Simple Modular Architecture Research Tool; a protein domain database

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SMARTi
View protein in SMART
SM00248 ANK, 3 hits
SM00292 BRCT, 2 hits

Superfamily database of structural and functional annotation

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SUPFAMi
SSF48403 SSF48403, 1 hit
SSF52113 SSF52113, 2 hits

PROSITE; a protein domain and family database

More...
PROSITEi
View protein in PROSITE
PS50297 ANK_REP_REGION, 1 hit
PS50088 ANK_REPEAT, 3 hits
PS50172 BRCT, 2 hits
PS00518 ZF_RING_1, 1 hit
PS50089 ZF_RING_2, 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 (4+)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 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.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 4 described isoforms and 7 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q99728-1) [UniParc]FASTAAdd to basket
Also known as: FL

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
MPDNRQPRNR QPRIRSGNEP RSAPAMEPDG RGAWAHSRAA LDRLEKLLRC
60 70 80 90 100
SRCTNILREP VCLGGCEHIF CSNCVSDCIG TGCPVCYTPA WIQDLKINRQ
110 120 130 140 150
LDSMIQLCSK LRNLLHDNEL SDLKEDKPRK SLFNDAGNKK NSIKMWFSPR
160 170 180 190 200
SKKVRYVVSK ASVQTQPAIK KDASAQQDSY EFVSPSPPAD VSERAKKASA
210 220 230 240 250
RSGKKQKKKT LAEINQKWNL EAEKEDGEFD SKEESKQKLV SFCSQPSVIS
260 270 280 290 300
SPQINGEIDL LASGSLTESE CFGSLTEVSL PLAEQIESPD TKSRNEVVTP
310 320 330 340 350
EKVCKNYLTS KKSLPLENNG KRGHHNRLSS PISKRCRTSI LSTSGDFVKQ
360 370 380 390 400
TVPSENIPLP ECSSPPSCKR KVGGTSGRKN SNMSDEFISL SPGTPPSTLS
410 420 430 440 450
SSSYRRVMSS PSAMKLLPNM AVKRNHRGET LLHIASIKGD IPSVEYLLQN
460 470 480 490 500
GSDPNVKDHA GWTPLHEACN HGHLKVVELL LQHKALVNTT GYQNDSPLHD
510 520 530 540 550
AAKNGHVDIV KLLLSYGASR NAVNIFGLRP VDYTDDESMK SLLLLPEKNE
560 570 580 590 600
SSSASHCSVM NTGQRRDGPL VLIGSGLSSE QQKMLSELAV ILKAKKYTEF
610 620 630 640 650
DSTVTHVVVP GDAVQSTLKC MLGILNGCWI LKFEWVKACL RRKVCEQEEK
660 670 680 690 700
YEIPEGPRRS RLNREQLLPK LFDGCYFYLW GTFKHHPKDN LIKLVTAGGG
710 720 730 740 750
QILSRKPKPD SDVTQTINTV AYHARPDSDQ RFCTQYIIYE DLCNYHPERV
760 770
RQGKVWKAPS SWFIDCVMSF ELLPLDS
Length:777
Mass (Da):86,648
Last modified:October 17, 2006 - 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:i95E2D904046B5646
GO
Isoform alpha (identifier: Q99728-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     54-72: Missing.

Show »
Length:758
Mass (Da):84,574
Checksum:iF45B73AF6EDB602D
GO
Isoform beta (identifier: Q99728-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-24: MPDNRQPRNRQPRIRSGNEPRSAP → MVAVPGPTVAPRSTAWRSCCAARV
     25-121: Missing.

Show »
Length:680
Mass (Da):75,474
Checksum:iD710F909D260F2F3
GO
Isoform gamma (identifier: Q99728-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     122-127: DLKEDK → GRHTFC
     128-777: Missing.

Show »
Length:127
Mass (Da):14,362
Checksum:iFEA9852C92F33975
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 7 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
F6MDI1F6MDI1_HUMAN
BRCA1 associated RING domain 1 isof...
BARD1
307Annotation 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>
A0A087X2H0A0A087X2H0_HUMAN
BRCA1-associated RING domain protei...
BARD1
326Annotation 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>
C9IYG1C9IYG1_HUMAN
BRCA1-associated RING domain protei...
BARD1
216Annotation 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>
A0A087WZ19A0A087WZ19_HUMAN
BRCA1-associated RING domain protei...
BARD1
264Annotation 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>
A0A087X0C6A0A087X0C6_HUMAN
BRCA1-associated RING domain protei...
BARD1
167Annotation 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>
F8WCG2F8WCG2_HUMAN
BRCA1-associated RING domain protei...
BARD1
76Annotation 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>
C9J6M1C9J6M1_HUMAN
BRCA1-associated RING domain protei...
BARD1
44Annotation 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>

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 conflicti85V → A in AEF57473 (PubMed:18089818).Curated1
Sequence conflicti406R → Q in AAB38316 (PubMed:8944023).Curated1
Sequence conflicti406R → Q in AEF57471 (PubMed:18089818).Curated1
Sequence conflicti406R → Q in AEF57472 (PubMed:18089818).Curated1

Natural variant

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_01035424P → S Common polymorphism in Caucasians; less frequent in Africans. 1 PublicationCorresponds to variant dbSNP:rs1048108EnsemblClinVar.1
Natural variantiVAR_010355153K → E1 PublicationCorresponds to variant dbSNP:rs753377280Ensembl.1
Natural variantiVAR_038371186S → G. Corresponds to variant dbSNP:rs16852741EnsemblClinVar.1
Natural variantiVAR_020109241S → C. Corresponds to variant dbSNP:rs3738885EnsemblClinVar.1
Natural variantiVAR_024611378R → S1 PublicationCorresponds to variant dbSNP:rs2229571EnsemblClinVar.1
Natural variantiVAR_010356507V → M1 PublicationCorresponds to variant dbSNP:rs2070094EnsemblClinVar.1
Natural variantiVAR_010357557C → S Rare polymorphism in Caucasians. 1 PublicationCorresponds to variant dbSNP:rs28997576EnsemblClinVar.1
Natural variantiVAR_010358564Q → H in an ovarian clear cell adenocarcinoma. 1 Publication1
Natural variantiVAR_038372645C → R. Corresponds to variant dbSNP:rs2228456EnsemblClinVar.1
Natural variantiVAR_010359658R → C Rare polymorphism in Caucasians; absent in Africans. 1 PublicationCorresponds to variant dbSNP:rs3738888EnsemblClinVar.1
Natural variantiVAR_010360695V → L in a breast cancer sample; somatic mutation. 1 PublicationCorresponds to variant dbSNP:rs111367604Ensembl.1
Natural variantiVAR_028309728S → F. Corresponds to variant dbSNP:rs13389423EnsemblClinVar.1
Natural variantiVAR_010361761S → N in an uterine cancer sample; somatic mutation. 1 PublicationCorresponds to variant dbSNP:rs142155101EnsemblClinVar.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_0558741 – 24MPDNR…PRSAP → MVAVPGPTVAPRSTAWRSCC AARV in isoform beta. 1 PublicationAdd BLAST24
Alternative sequenceiVSP_05587525 – 121Missing in isoform beta. 1 PublicationAdd BLAST97
Alternative sequenceiVSP_05587654 – 72Missing in isoform alpha. 1 PublicationAdd BLAST19
Alternative sequenceiVSP_055877122 – 127DLKEDK → GRHTFC in isoform gamma. 1 Publication6
Alternative sequenceiVSP_055878128 – 777Missing in isoform gamma. 1 PublicationAdd BLAST650

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

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DDBJi
Links Updated
U76638 mRNA Translation: AAB38316.1
AF038042
, AF038034, AF038035, AF038036, AF038037, AF038038, AF038039, AF038040, AF038041 Genomic DNA Translation: AAB99978.1
JF790280 mRNA Translation: AEF57471.1
JF790281 mRNA Translation: AEF57472.1
JF790282 mRNA Translation: AEF57473.1
AC016708 Genomic DNA Translation: AAX93130.1
BC126426 mRNA Translation: AAI26427.1

The Consensus CDS (CCDS) project

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CCDSi
CCDS2397.1 [Q99728-1]
CCDS74646.1 [Q99728-2]

NCBI Reference Sequences

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RefSeqi
NP_000456.2, NM_000465.3 [Q99728-1]
NP_001269472.1, NM_001282543.1 [Q99728-2]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000260947; ENSP00000260947; ENSG00000138376 [Q99728-1]
ENST00000617164; ENSP00000480470; ENSG00000138376 [Q99728-2]
ENST00000620057; ENSP00000481988; ENSG00000138376 [Q99728-4]

Database of genes from NCBI RefSeq genomes

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GeneIDi
580

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:580

UCSC genome browser

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UCSCi
uc002veu.4 human [Q99728-1]

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

<p>This subsection of the <a href="http://www.uniprot.org/manual/cross_references_section">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
U76638 mRNA Translation: AAB38316.1
AF038042
, AF038034, AF038035, AF038036, AF038037, AF038038, AF038039, AF038040, AF038041 Genomic DNA Translation: AAB99978.1
JF790280 mRNA Translation: AEF57471.1
JF790281 mRNA Translation: AEF57472.1
JF790282 mRNA Translation: AEF57473.1
AC016708 Genomic DNA Translation: AAX93130.1
BC126426 mRNA Translation: AAI26427.1
CCDSiCCDS2397.1 [Q99728-1]
CCDS74646.1 [Q99728-2]
RefSeqiNP_000456.2, NM_000465.3 [Q99728-1]
NP_001269472.1, NM_001282543.1 [Q99728-2]

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
1JM7NMR-B26-140[»]
2NTEX-ray1.90A/B568-777[»]
2R1ZX-ray2.10A/B569-777[»]
3C5RX-ray2.00A/B425-555[»]
3FA2X-ray2.20A/B566-777[»]
SMRiQ99728
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi107056, 280 interactors
ComplexPortaliCPX-955 BRCC ubiquitin ligase complex
CORUMiQ99728
DIPiDIP-5972N
IntActiQ99728, 48 interactors
MINTiQ99728
STRINGi9606.ENSP00000260947

Chemistry databases

BindingDBiQ99728

PTM databases

iPTMnetiQ99728
PhosphoSitePlusiQ99728

Polymorphism and mutation databases

BioMutaiBARD1
DMDMi116241265

Proteomic databases

EPDiQ99728
jPOSTiQ99728
MaxQBiQ99728
PaxDbiQ99728
PeptideAtlasiQ99728
PRIDEiQ99728
ProteomicsDBi78442

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000260947; ENSP00000260947; ENSG00000138376 [Q99728-1]
ENST00000617164; ENSP00000480470; ENSG00000138376 [Q99728-2]
ENST00000620057; ENSP00000481988; ENSG00000138376 [Q99728-4]
GeneIDi580
KEGGihsa:580
UCSCiuc002veu.4 human [Q99728-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
580
DisGeNETi580

GeneCards: human genes, protein and diseases

More...
GeneCardsi
BARD1

H-Invitational Database, human transcriptome db

More...
H-InvDBi
HIX0030010
HGNCiHGNC:952 BARD1
HPAiCAB034106
HPA035354
HPA044864
MalaCardsiBARD1
MIMi601593 gene
neXtProtiNX_Q99728
OpenTargetsiENSG00000138376
Orphaneti145 Hereditary breast and ovarian cancer syndrome
PharmGKBiPA25256

GenAtlas: human gene database

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GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG0504 Eukaryota
KOG4362 Eukaryota
COG0666 LUCA
GeneTreeiENSGT00940000156532
HOGENOMiHOG000237306
InParanoidiQ99728
KOiK10683
OMAiCYFYLGG
OrthoDBi854133at2759
PhylomeDBiQ99728
TreeFamiTF326440

Enzyme and pathway databases

UniPathwayi
UPA00143

ReactomeiR-HSA-5685938 HDR through Single Strand Annealing (SSA)
R-HSA-5685942 HDR through Homologous Recombination (HRR)
R-HSA-5689603 UCH proteinases
R-HSA-5689901 Metalloprotease DUBs
R-HSA-5693554 Resolution of D-loop Structures through Synthesis-Dependent Strand Annealing (SDSA)
R-HSA-5693565 Recruitment and ATM-mediated phosphorylation of repair and signaling proteins at DNA double strand breaks
R-HSA-5693568 Resolution of D-loop Structures through Holliday Junction Intermediates
R-HSA-5693571 Nonhomologous End-Joining (NHEJ)
R-HSA-5693579 Homologous DNA Pairing and Strand Exchange
R-HSA-5693607 Processing of DNA double-strand break ends
R-HSA-5693616 Presynaptic phase of homologous DNA pairing and strand exchange
R-HSA-6804756 Regulation of TP53 Activity through Phosphorylation
R-HSA-69473 G2/M DNA damage checkpoint
SignaLinkiQ99728
SIGNORiQ99728

Miscellaneous databases

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

More...
ChiTaRSi
BARD1 human
EvolutionaryTraceiQ99728

The Gene Wiki collection of pages on human genes and proteins

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GeneWikii
BARD1

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

More...
GenomeRNAii
580

Protein Ontology

More...
PROi
PR:Q99728

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000138376 Expressed in 210 organ(s), highest expression level in secondary oocyte
ExpressionAtlasiQ99728 baseline and differential
GenevisibleiQ99728 HS

Family and domain databases

CDDicd00204 ANK, 1 hit
cd00027 BRCT, 2 hits
cd16496 RING-HC_BARD1, 1 hit
Gene3Di1.25.40.20, 1 hit
3.30.40.10, 1 hit
3.40.50.10190, 2 hits
InterProiView protein in InterPro
IPR002110 Ankyrin_rpt
IPR020683 Ankyrin_rpt-contain_dom
IPR036770 Ankyrin_rpt-contain_sf
IPR039503 BARD1_Znf-RING
IPR001357 BRCT_dom
IPR036420 BRCT_dom_sf
IPR001841 Znf_RING
IPR013083 Znf_RING/FYVE/PHD
IPR017907 Znf_RING_CS
PfamiView protein in Pfam
PF12796 Ank_2, 1 hit
PF14835 zf-RING_6, 1 hit
PRINTSiPR01415 ANKYRIN
SMARTiView protein in SMART
SM00248 ANK, 3 hits
SM00292 BRCT, 2 hits
SUPFAMiSSF48403 SSF48403, 1 hit
SSF52113 SSF52113, 2 hits
PROSITEiView protein in PROSITE
PS50297 ANK_REP_REGION, 1 hit
PS50088 ANK_REPEAT, 3 hits
PS50172 BRCT, 2 hits
PS00518 ZF_RING_1, 1 hit
PS50089 ZF_RING_2, 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 nameiBARD1_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: Q99728
Secondary accession number(s): F6MDH7
, F6MDH8, F6MDH9, O43574, Q53SS5
<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: February 21, 2001
Last sequence update: October 17, 2006
Last modified: May 8, 2019
This is version 204 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, Complete proteome, Reference proteome

Documents

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