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BARD1 (NM_000465) - BRCA1 associated RING domain 1

Brca1-Associated Ring Domain Protein 1 Isoform 1

Mutations Visualisation
The Mutations Visualisation needle plot provides a visual summary of the location, frequency and functional significance of all known mutations in your protein of interest. The placement of the pins corresponds to the location along the protein’s sequence, while the mutation impact and PTM associated with it is explained in the figure legend.

- Height (y axis) represents the number of occurrences of the mutation
- Horizontal position (x axis) represents the position along your protein’s amino acid sequence
- Pinhead colour represents the mutation impact (figure legend)
- X axis colouring represents the type of PTM associated with the mutation location (figure legend)

Zooming in/out
Too zoom in/out of a specific amino acid sequence, you can either use the magnifying glass icons below the needle plot, or you can use your mouse scroll wheel while hovering over the needle plot. Furthermore, you can enter a specific amino acid sequence range in the search bar and hit “Go!”

Saving the image
The Mutations Visualisation figure can be saved as an SVG or PDF format by clicking on the “Save image as” button at the top right of the plot.

Tracks
While the x axis of the Mutations Visualization plot indicates the amino acid sequence location, additional positional details are visualized using the tracks found here:

- Sequence track: amino acid sequence of your protein of interest
- Disorder track: (Not sure about this myself)
- Domains track: proteins domains identified in the amino acid sequence
- Mutations track: the specific amino acid substitutions detected at the specific site

If there is a specific region of the amino acid sequence you are interested in, you can zoom onto it using the magnifying glass icons below the Mutations Visualization plot. Alternatively, you can zoom in and out by using your mouse scroll wheel while hovering over the needle plot.

Protein summary
The protein summary provides brief information regarding your protein, namely: its full name, a brief description of its function, and genomic location of the coding gene.

This is preferred isoform of BARD1 protein. View all 5 isoforms
BARD1: BRCA1-associated RING domain protein 1 isoform 1
Description:

This gene encodes a protein which interacts with the N-terminal region of BRCA1. In addition to its ability to bind BRCA1 in vivo and in vitro, it shares homology with the 2 most conserved regions of BRCA1: the N-terminal RING motif and the C-terminal BRCT domain. The RING motif is a cysteine-rich sequence found in a variety of proteins that regulate cell growth, including the products of tumor suppressor genes and dominant protooncogenes. This protein also contains 3 tandem ankyrin repeats. The BARD1/BRCA1 interaction is disrupted by tumorigenic amino acid substitutions in BRCA1, implying that the formation of a stable complex between these proteins may be an essential aspect of BRCA1 tumor suppression. This protein may be the target of oncogenic mutations in breast or ovarian cancer. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2013].

Strand
-
Chromosome
2
Protein
777 residues
All mutations
1203
PTM sites
41
CDS
215,593,399 - 215,674,293
Transcription
215,590,369 - 215,674,435
44.27% of sequence is predicted to be disordered

External references
RefSeq, Entrez, Uniprot and Enzembl IDs related to your search query.

Mappings retrieved from NCBI & UniProt.
RefSeq
RefSeq IDs relevant to your search query.
Entrez
gene: 580
UniProt
All links following an Uniprot accession refer to this accession.

Orange icon (
) next to an accession indicates that the entry belongs to SwissProt: a reviewed subset of Uniprot knowledgebase.

Rarely links to external resources may not work. This is common for new or unreviewed (
) entries.
Ensembl