Finding a protein-coding sequence
Search for a gene
Human BRCA1 (breast cancer 1, early onset) is a tumour suppressor gene coding for a protein involved in DNA repair. Mutations in the BRCA1 gene in the germ line can result in the individual developing Hereditary Breast and Ovarian Cancer Syndrome.
Imagine you are working on the BRCA1 gene, studying the effects of different genetic mutations on the function of the encoded protein. You need to know the coding sequence of human BRCA1, and of any known variants, so you can make targeted mutations to the gene sequence that will code for alternate amino acids in the protein. You can use ENA to search for the BRCA1 coding sequence.
Figure 52. To search ENA, type 'BRCA1 AND Homo sapiens' into the text search box.
Results - ENA Browser summary
The ENA Bowser provides a summary of the nucleotide data available for the human BRCA1 gene in both the EMBL-Bank (assembled/annotated data) and SRA (raw data) databases (Figure 53). You can now explore the data further by expanding and viewing the EMBL-Bank protein-coding sequences available for this gene.
Figure 53. Results page showing the ENA Browser summary of the assembled (EMBL-Bank database) and raw (SRA database) sequence data available for human BRCA1; the EMBL-Bank database 'Protein-coding Sequence' section has been expanded.
Results - obtaining BRCA1 coding sequence
Within one of the EMBL-Bank database entries for the BRCA1 gene, you can download the sequence or browse the biological annotation available (Figure 54). Note that there are several protein-coding sequences available for human BRCA1 in the EMBL-Bank database, which a researcher would want to view.
Figure 54. EMBL-Bank entry for AAC37594, which contains the protein-coding sequence for the human BRCA1 gene.