Gene
Gene Information
Official Full Name: Bloom syndrome, RecQ helicase-like [4]
Official Symbol: BLM [4]
Official Aliases: BS; RECQ2; RECQL2; RECQL3 [4]
Protein Length: 104997 base pairs [5]
Official Full Name: Bloom syndrome, RecQ helicase-like [4]
Official Symbol: BLM [4]
Official Aliases: BS; RECQ2; RECQL2; RECQL3 [4]
Protein Length: 104997 base pairs [5]
Homo sapiens Bloom syndrome protein- transcript variant 2
Coding Sequence: 30063...30164, 32040...32741, 34461...34620, 37485...37612, 42820...42953, 43268...43929, 45640...45831,47940...48088, 49584...49697, 51807...51905, 52112...52260, 65496...65602, 67595...67755, 73323...73518, 76841...77031, 80863...81011, 86195...86394, 86195...86394,86841...87033, 91811...91933, 93879...94080, 97954...98136
Homo sapiens Bloom syndrome protein- transcript variant 4
Coding Sequence:42655...42953, 43268...43929, 45640...45831, 47970...48088, 49584...49697, 51807...51905, 52112...52260, 654496...65602, 67595...67755, 73323...73518, 76841...77031, 80864...81011, 86195...86394, 86841...87033, 91811...91933, 93879...91933
Gene Structure of Bloom syndrome protein:
Bloom sydrome protein is also known as RecQ helicase-like. The protein plays an active role in DNA helicase activity. DNA helicases function to unwind the double stranded DNA.[8] Four different isoforms of Bloom syndrome protein were found on NCBI and isoform 2 and 4 are pictured above. There was an additional fourteen isoforms that were found on Aceview. Three unspliced isoforms were also available on Aceview. [9] In the first figure depicted above, the mRNA variant 2 has twenty one coding exons and variant 4 has seventeen coding exons. mRNA transcript variant 4 had 4721 coding exon length and variant 2 had 4555 coding length. The coding sequence and the untranslated regions varies among isoforms. The coding sequence, which typically begins in the first exon and ends in the last exon, and the 5' and 3' untranslated regions varied between variant 2 and variant 4. The coding sequence for variant 2 ended after the last exon, but in variant 4 the coding sequence ended before the last exon.The coding sequence for transcript variant 4 also started much further into the gene than for transcript variant 2. Isoform 4 has a much larger 5' untranslated region resulting in a smaller coding sequence as compared to isoform 2. [6] Different isoforms may lead to different functions that the protein performs. The larger the untranslated region is, the less information there is being transcribed. There may be less gene expression if less information is transcribed. The poly A site is noted in order to see where the poly A tail is added on the 3' end. The poly A signal is also included, which is approximately six base pairs long. The distance between the poly A site and the poly A signal is usually between 15-20 amino acids but can vary slightly. For both transcripts variant 2 and 4 the poly A signal and site were within 20 base pairs from each other and the poly A signal was not more than six base pairs in length. [7,8]
Bloom sydrome protein is also known as RecQ helicase-like. The protein plays an active role in DNA helicase activity. DNA helicases function to unwind the double stranded DNA.[8] Four different isoforms of Bloom syndrome protein were found on NCBI and isoform 2 and 4 are pictured above. There was an additional fourteen isoforms that were found on Aceview. Three unspliced isoforms were also available on Aceview. [9] In the first figure depicted above, the mRNA variant 2 has twenty one coding exons and variant 4 has seventeen coding exons. mRNA transcript variant 4 had 4721 coding exon length and variant 2 had 4555 coding length. The coding sequence and the untranslated regions varies among isoforms. The coding sequence, which typically begins in the first exon and ends in the last exon, and the 5' and 3' untranslated regions varied between variant 2 and variant 4. The coding sequence for variant 2 ended after the last exon, but in variant 4 the coding sequence ended before the last exon.The coding sequence for transcript variant 4 also started much further into the gene than for transcript variant 2. Isoform 4 has a much larger 5' untranslated region resulting in a smaller coding sequence as compared to isoform 2. [6] Different isoforms may lead to different functions that the protein performs. The larger the untranslated region is, the less information there is being transcribed. There may be less gene expression if less information is transcribed. The poly A site is noted in order to see where the poly A tail is added on the 3' end. The poly A signal is also included, which is approximately six base pairs long. The distance between the poly A site and the poly A signal is usually between 15-20 amino acids but can vary slightly. For both transcripts variant 2 and 4 the poly A signal and site were within 20 base pairs from each other and the poly A signal was not more than six base pairs in length. [7,8]
Gene Expression of the Various BLM Isoforms: [9]
- Isoform aAug10: nasopharynx, lung embryonic stem cells, testis, brain, cerebral cortex, eye, lymph, cerebellum, hippocampus, placenta, thymus, salivary gland, cervix, colon, breast, ovary, blood, skin
- Isoform bAug10: brain, testis, nasopharynx, cerebral cortex, cervix, colon, eye
- Isoform cAug10: testis, brain, cerebral cortex, hypothalamus, nasopharynx, cerebellum, cervix, colon, HeLa cells
- Isoform dAug10: brain, cerebral cortex, cerebellum, testis, nasopharynx, embryonal carcinoma, eye, melanotic melanoma, b-cells
- Isoform eAug10: HeLa cells, placenta, brain, cerebral cortex, testis, eye, retinoblastoma, cervix, colon
- Isoform fAug10: thymus, brain, cerebral, testis, eye, retinoblastoma, colon, cervix, fetal brain, b-cells, kidney
- Isoform gAug10: fetal brain, brain, cerebral cortex, cervix, colon, kidney, b-cells
- Isoform hAug10: eye, retinoblastoma
- Isoform iAug10: thymus, brain, cerebral cortex, thymus, testis, blastocyst, eye, retinoblastoma
- Isoform mAug10: cerebellum, hippocampus, brain, cerebral cortex, cerebellum, hypothalamus, testis
- Isoform nAug10: brain, cerebral cortex, cervix, colon, testis, blastocyst, pluripotent cell line from blastocyst inner cell mass