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BARD1
HPA
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Brain region
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Brain region
Category
Tau score
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  • SUMMARY

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  • STRUCT & INT

  • BARD1
STRUCTURE & INTERACTION STRUCTURE INTERACTION METABOLIC PATHWAYS Show tissue menu
ISOLATED
Protein structures
Protein interactions
Human metabolism
GENERAL INFORMATIONi

General description of the gene and the encoded protein(s) using information from HGNC and Ensembl, as well as predictions made by the Human Protein Atlas project.

Gene namei

Official gene symbol, which is typically a short form of the gene name, according to HGNC.

BARD1
Synonyms
Gene descriptioni

Full gene name according to HGNC.

BRCA1 associated RING domain 1
Protein classi

Assigned HPA protein class(es) for the encoded protein(s).

Cancer-related genes
Enzymes
Human disease related genes
Metabolic proteins
Plasma proteins
Predicted locationi

All transcripts of all genes have been analyzed regarding the location(s) of corresponding protein based on prediction methods for signal peptides and transmembrane regions.

  • Genes with at least one transcript predicted to encode a secreted protein, according to prediction methods or to UniProt location data, have been further annotated and classified with the aim to determine if the corresponding protein(s) are secreted or actually retained in intracellular locations or membrane-attached.

  • Remaining genes, with no transcript predicted to encode a secreted protein, will be assigned the prediction-based location(s).

The annotated location overrules the predicted location, so that a gene encoding a predicted secreted protein that has been annotated as intracellular will have intracellular as the final location.

Intracellular
Protein evidence Evidence at protein level (all genes)

HUMAN PROTEIN ATLAS INFORMATIONi

Summary of RNA expression analysis and annotation data generated within the Human Protein Atlas project.

Single cell type
expression clusteri

The RNA data was used to cluster genes according to their expression across single cell types. Clusters contain genes that have similar expression patterns, and each cluster has been manually annotated to describe common features in terms of function and specificity.

Squamous epithelial cells - Keratinization (mainly)
Single cell type specificityi

The RNA specificity category is based on mRNA expression levels in the analyzed cell types based on scRNA-seq data from normal tissues. The categories include: cell type enriched, group enriched, cell type enhanced, low cell type specificity and not detected.

Cell type enhanced (Basal keratinocytes)
Tissue expression
cluster (RNA)i

The RNA data was used to cluster genes according to their expression across tissues. Clusters contain genes that have similar expression patterns, and each cluster has been manually annotated to describe common features in terms of function and specificity.

Bone marrow - Cell proliferation (mainly)
Tissue specificity (RNA)i

The RNA specificity category is based on mRNA expression levels in the consensus dataset which is calculated from the RNA expression levels in samples from HPA and GTEX. The categories include: tissue enriched, group enriched, tissue enhanced, low tissue specificity and not detected.

Low tissue specificity
Subcellular locationi

Main subcellular location based on data generated in the subcellular section of the Human Protein Atlas.

Localized to the Nucleoplasm, Nuclear speckles In addition localized to the Cytoplasmic bodies
Secretome annotationi

All genes with at least one predicted secreted isoform have been annotated and classified with the aim to determine if the corresponding protein(s) are:

  • secreted into blood
  • locally secreted
  • or actually being attached to membrane or retained in intracellular locations like mitochondria, endoplasmatic reticulum (ER), Golgi apparatus or lysosomes.

Not available
GENE INFORMATIONi

Gene information from Ensembl and Entrez, as well as links to available gene identifiers are displayed here. Information was retrieved from Ensembl if not indicated otherwise.

Chromosome 2
Cytoband q35
Chromosome location (bp) 214725646 - 214809683
Number of transcriptsi

Number of protein-coding transcripts from the gene as defined by Ensembl.

8
Ensembl ENSG00000138376 (version 109)
Entrez gene 580
HGNC HGNC:952
UniProt Q99728 (UniProt - Evidence at protein level)
neXtProt NX_Q99728
GeneCards BARD1
ASSAYSi

Links to data of the different assays available in the Structure & Interaction resource of the Human Protein Atlas. Click on the miniature images to directly get to the respective section.

Proteinstructure Interaction Metabolic
PROTEIN BROWSERi

The Structure section provides in-house generated structures, predicted using the Alphafold source code, for the majority of the proteins and their related isoforms.

Displaying protein features on the AlphaFold structures

Individual splice variants can be selected in the top part of the Protein Browser (see below) and different transcript-related features such as transmembrane regions, InterPro domains and antigen sequences for antibodies can be displayed in the structure by clicking on the respective features in the Protein Browser.

Clinical and population-based amino acid variants based on data from the Ensembl variation database and AlphaMissense (AM) predictions can be highlighted using the sliders to the right of the structure. These can also be used to colour the entire structure by residue index or make the structure autorotate.The structures are displayed using the NGL Viewer and can also be zoomed-in and rotated manually.

The Protein Browser

The ProteinBrowser displays the antigen location on the target protein(s) and the features of the target protein. Transcript names and schematic transcript structures including exons, introns and UTRs for the different isoforms are shown on top, and can be used to switch between the structures for the different splice variants.

At the top of the view, the position of the antigen (identified by the corresponding HPA identifier) is shown as a green bar. A yellow triangle on the bar indicates a <100% sequence identity to the protein target.

Below the antigens, the maximum percent sequence identity of the protein to all other proteins from other human genes is displayed, using a sliding window of 10 aa residues (HsID 10) or 50 aa residues (HsID 50). The region with the lowest possible identity is always selected for antigen design, with a maximum identity of 60% allowed for designing a single-target antigen (read more).

The curve in blue displays the predicted antigenicity i.e. the tendency for different regions of the protein to generate an immune response, with peak regions being predicted to be more antigenic.The curve shows average values based on a sliding window approach using an in-house propensity scale. (read more).

Signal peptides (turquoise) and membrane regions (orange) based on predictions using the majority decision methods MDM and MDSEC are also displayed.

Low complexity regions are shown in yellow and InterPro regions in green. Common (purple) and unique (grey) regions between different splice variants of the gene are also displayed (read more), and at the bottom of the protein view is the protein scale.
BARD1-201
BARD1-202
BARD1-203
BARD1-210
BARD1-211
BARD1-212
BARD1-213
BARD1-214

Description:

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PROTEIN INFORMATIONi

The protein information section displays alternative protein-coding transcripts (splice variants) encoded by this gene according to the Ensembl database.

The Splice variant identifier links to the Ensembl website protein summary for the selected splice variant. The data in the Swissprot and TrEMBL columns links to corresponding pages in the UniProt database.

The protein classes assigned to this protein are shown if expanding the data in the protein class column. Parent protein classes are in bold font and subclasses are listed under the parent class.

The length of the protein (amino acid residues according to Ensembl), molecular mass (kDalton), predicted signal peptide and number of predicted transmembrane region(s) according to in-house majority decision methods based on sets of predictors are also reported.
Splice variant SwissProt TrEMBL Protein class Length & mass Signal peptide
(predicted)
Transmembrane regions
(predicted)
BARD1-201
Q99728
Show all
Enzymes
Metabolic proteins
Predicted intracellular proteins
Plasma proteins
Cancer-related genes
Human disease related genes
Mapped to neXtProt
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
777 aa
86.6 kDa
No 0
BARD1-202
C9IYG1
Show all
Metabolic proteins
Predicted intracellular proteins
Cancer-related genes
Human disease related genes
Protein evidence (Ezkurdia et al 2014)
Show all
326 aa
37.1 kDa
No 0
BARD1-203
C9J6M1
Show all
Metabolic proteins
Predicted intracellular proteins
Cancer-related genes
Human disease related genes
Protein evidence (Ezkurdia et al 2014)
Show all
44 aa
5.3 kDa
No 0
BARD1-210
F6MDI1
Show all
Metabolic proteins
Predicted intracellular proteins
Cancer-related genes
Human disease related genes
Protein evidence (Ezkurdia et al 2014)
Show all
307 aa
35.1 kDa
No 0
BARD1-211
A0A087X2H0
Show all
Metabolic proteins
Predicted intracellular proteins
Cancer-related genes
Human disease related genes
Protein evidence (Ezkurdia et al 2014)
Show all
641 aa
71.9 kDa
No 0
BARD1-212
Q99728
Show all
Enzymes
Metabolic proteins
Predicted intracellular proteins
Plasma proteins
Cancer-related genes
Human disease related genes
Mapped to neXtProt
Protein evidence (Ezkurdia et al 2014)
Show all
758 aa
84.6 kDa
No 0
BARD1-213
A0A087WZ19
Show all
Metabolic proteins
Predicted intracellular proteins
Cancer-related genes
Human disease related genes
Protein evidence (Ezkurdia et al 2014)
Show all
264 aa
30.4 kDa
No 0
BARD1-214
Q99728
Show all
Enzymes
Metabolic proteins
Predicted intracellular proteins
Plasma proteins
Cancer-related genes
Human disease related genes
Mapped to neXtProt
Protein evidence (Ezkurdia et al 2014)
Show all
127 aa
14.4 kDa
No 0
Show allShow less
INTERACTIONi

In the Interaction part of this page network plots showing the gene's interaction partners according to four different datasets are displayed, including a consensus network plot showing only interactions present in at least two of the datasets. In the network plots the nodes represent genes and edge color represent the number of datasets the interaction belongs to.

The highlight bar in the top of the plot can be used to color the nodes according to subcellular location (based on data in the Subcellular section), predicted location (based on signalpeptide and transmembrane region predictions), tissue specificity (based on RNA tissue expression profiles) or proteinclass. For genes categorised as single cell type or group specific the option to highlight interaction partners expressed in the same cell type will also be available in the highlight bar.

Custom highlighting of nodes is possible using the top left Filter option in which a query of choice can be built to for example label all nodes that are tissue enriched in both human and mouse brain or those that belongs to a certain tissue expression cluster. The expression cluster for the gene is stated in the box Human Protein Atlas Information above the network plot. Click on Filter in the top left in the plot to find the query builder and some example queries.

Interactions included are direct interaction and physical associations with high and medium confidence from IntAct, physical multivalidated interactions from BioGRID, interactions with>75% probability from BioPlex and significant physical interactions from OpenCell.

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Fields »
e.g. Brain enriched, Localized to mitochondria, Bone marrow - Cell proliferation

Field
Term
Gene name
Class
Subclass
Class
Keyword
Chromosome
External id
Tissue
Cell type
Expression
Antibody panel
Tissue
Main location
Patient ID
Annotation
Tissue
Category
Tau score
Cluster
Reliability
Brain region
Category
Tau score
Brain region
Category
Tau score
Brain region
Category
Tau score
Cluster
Reliability
Tissue
Cell type
Enrichment
Cell type
Category
Tau score
Cell type
Category
Tau score
Cell type
Category
Tau score
Cell lineage
Category
Tau score
Cluster
Cluster
Location
Searches
Location
Cell line
Class
Type
Phase
Reliability
Cancer
Prognosis
Cancer
Category
Cancer
Category
Tau score
Cluster
Variants
Interacting gene (ensg_id)
Type
Number of interactions
Pathway
Category
Score
Score
Score
Validation
Validation
Validation
Validation
Antibodies
Data type
Column


Consensus
IntAct
BioGrid
OpenCell
BioPlex
Highlight:
Off
Subcell location
Predicted location
Cell type specificity
Protein class



Number of interactions: 7
Interaction# Consensus# IntAct# BioGrid# OpenCell# BioPlex
BRCA1363930930
CHD322149747
CSTF1321142
CSTF26242070
GIT118194030
KAT78928132
TCERG15228180
Highlight:
Off
Subcell location
Predicted location
Cell type specificity
Protein class



Number of interactions: 20 View all protein interaction data in IntAct
Interaction# Consensus# IntAct# BioGrid# OpenCell# BioPlex
AXIN2337701
BRCA1363930930
CEP126311300
CEP70161971700
CHD322149747
CSTF1321142
CSTF26242070
EXOC59461229
FAM9B3118401
GIT118194030
GOLGA22135057110
HSF2BP3224500
KAT78928132
KRT40112891200
LDOC1482902
PARN138012
RABEP111402350
TCERG15228180
TRAF1171684609
ZNF6552117350
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Subcell location
Predicted location
Cell type specificity
Protein class



Number of interactions: 63
Interaction# Consensus# IntAct# BioGrid# OpenCell# BioPlex
ABRAXAS1451000
AURKB131896318
BABAM2441804
BCL3142000
BRCA1363930930
BRCA210125152
BRCC3552000
BRIP1551700
CAP1311530
CBX31825114132
CBX5295986924
CDK91714124190
CHD322149747
COMMD12523432726
CSTF1321142
CSTF26242070
DCAF8L210404
ESR1325747300
EWSR112249360
FKBP1A361400
FKBP312803
GIT118194030
H2AC203048035
H2AC46289410
H2AX2229126039
H2BC2115318800
H2BC3005000
H3C12552282014
HAP15271700
HERC210769020
HNRNPC4129103500
KAT78928132
LARP74251182733
LGALS321522034
LGALS8361100
MAGED16802420
MDC1777100
MRPS2214138816
MSH66342163
MT2A313700
NBN10125510
NFKB122246980
NPC202414
NR1H38101100
OLA101810
PIN1161145902
POLR2A100184110
POLR2H35154512
RAD503550100
RAD5114187500
RBBP89123611
TCERG15228180
TERF2122437115
TMEM248019110
TOPBP1443800
TP5312016068250
UBE2D1344011900
UBE2D3232611800
UBE2W8151900
UBXN1342700
UIMC1442300
XRCC51418131132
XRCC62122226152
Show allShow less
Highlight:
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Subcell location
Predicted location
Cell type specificity
Protein class



Number of interactions: 6
Interaction# Consensus# IntAct# BioGrid# OpenCell# BioPlex
HMGA11920571091
HMGN2222390
HMGN51021131
NUMA1217571500
OST4233910
VPS3511825564
BARD1 has no defined protein interactions in BioPlex.
METABOLIC SUMMARYi

In this summary the pathway/subsystems to which the gene belongs is shown together with the associated cellular compartment for the reactions based on metabolite information. The number of proteins and metabolites in the pathway is shown as well as the number of reactions for the selected gene. By clicking on a pathway in the summary table the associated metabolic network map is shown, together with a gene-tissue heatmap that shows the expression of genes in that pathway in different tissues.

Gene BARD1 is associated with 1 reactions in 1 different subsystems, and present in the compartments: Cytosol. Provided by metabolicatlas.org
Pathway / Subsystem Subsystem-associated compartments # proteins # metabolites # reactions for
this protein
Isolated Cytosol, Mitochondria, Peroxisome, Endoplasmic reticulum, Nucleus, Extracellular 535 309 1

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