General information | Literature | Expression | Regulation | Variant | Interaction |
Basic Information |
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Gene ID | 641 |
Name | BLM |
Synonymous | BS|RECQ2|RECQL2|RECQL3;Bloom syndrome, RecQ helicase-like;BLM;Bloom syndrome, RecQ helicase-like |
Definition | Bloom syndrome protein|DNA helicase, RecQ-like type 2|recQ protein-like 3 |
Position | 15q26.1 |
Gene Type | protein-coding |
Gene Regulation: | Upstream microRNAs Transcription Factors Post Transcriptional Modification From dbPTM Methylation Profile From DiseaseMeth database |
Experimentally verified miRNA from miRTarBase [Top] |
Transcription Factors [Top] |
Regulation From TransFac database |
BLM(h) --> BLMp47(h) + BLMp112(h) (cleavage) | BLM(h) --Caspase-3(h)--> BLMp112(h) + BLMp47(h) (cleavage) | FEN1(h) + BLM(h) <==> FEN1(h):BLM(h) (binding) | BLM(h) + 53BP1(h) <==> BLM(h):53BP1(h) (binding) | BLM(h) + Chk1(h) <==> BLM(h):Chk1(h) (binding) | BLM(h) + ATP --Chk1(h)--> BLM(h){pS} + ADP (phosphorylation) | 53BP1(h) + BLM(h) + p53(h) <==> 53BP1(h):BLM(h):p53(h) (binding) | GTBP(h) + BLM(h) <==> GTBP(h):BLM(h) (binding) | BLM(h) + MSH2(h) <==> BLM(h):MSH2(h) (binding) | Rad51(h) + BLM(h) <==> Rad51(h):BLM(h) (binding) | BLM(h) + Ubc9(h) <==> BLM(h):Ubc9(h) (binding) | BLM(h) + sumo1(h) --> BLM(h){sumo} (sumoylation) | BLM(h) + SUMO2(h) --> BLM(h){sumo2} (sumoylation) | RFC4(h) + RFC2(h) + MLH1(h) + MSH2(h) + RECC1(h) + BLM(h) + ATM(h) + brca1(h) + GTBP(h) <==> RFC4(h):RFC2(h):MLH1(h):MSH2(h):RECC1(h):BLM(h):ATM(h):brca1(h):GTBP(h) (binding) | BLM(h) + brca1(h) <==> BLM(h):brca1(h) (binding) | BLM(h) + ATM(h) <==> BLM(h):ATM(h) (binding) | BLM(h) + MLH1(h) <==> BLM(h):MLH1(h) (binding) | RECC1(h) + BLM(h) <==> RECC1(h):BLM(h) (binding) | Rad50(h) + BLM(h) <==> Rad50(h):BLM(h) (binding) | BLM(h) + NBS1(h) <==> BLM(h):NBS1(h) (binding) | BLM(h) + Rad50(h) + MSH2(h) + ATM(h) + brca1(h) + RECC1(h) <==> BLM(h):Rad50(h):MSH2(h):ATM(h):brca1(h):RECC1(h) (binding) | BLM(h) --> BLM(h) (expression). | FEN1(h) + BLM(h) <==> FEN1(h):BLM(h) (binding) | BLM(h) --> BLM(h) (expression). |
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Post Transcriptional Modification [Top] | |||
Location (AA) |
PTM type |
Literature |
Database |
419 | Phosphoserine. | Swiss-Prot 53.0 | 422 | Phosphoserine. | Swiss-Prot 53.0 | 499 | Phosphoserine. | Swiss-Prot 53.0 | 508 | Phosphothreonine. | Swiss-Prot 53.0 | 1296 | Phosphoserine. | Swiss-Prot 53.0 | 1296 | Phosphoserine | 15302935 | Phospho.ELM 6.0 | 99 | Phosphothreonine (ATM) | 11375976 | Phospho.ELM 6.0 | 122 | Phosphothreonine | 14729972 | Phospho.ELM 6.0 | 419 | Phosphoserine | 16565220 | Phospho.ELM 6.0 | 422 | Phosphoserine | 16565220 | Phospho.ELM 6.0 |
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Methylation Profile [Top] | ||
Chromosome |
Location |
Source |
---|---|---|
chr15 |
Promoter: 89060083 - 89062083 | Agilent_014791 |
chr15 |
Promoter: 89060083 - 89062083 | GSE27584 |
chr15 |
Promoter: 89060083 - 89062083 | Agilent_014791_44K |
chr15 |
Promoter: 89060083 - 89062083 | Agilent_014791 |