Bioinformatics and Systems Medicine Laboratory
General information | Expression | Regulation | Mutation | Interaction

Basic Information

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:

Transcription Factors
Post Transcriptional Modification From dbPTM
Methylation Profile From DiseaseMeth database

Transcription Factors

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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).

Post Transcriptional Modification From dbPTM

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Location (AA)

PTM type

Literature

Database

419Phosphoserine.Swiss-Prot 53.0
422Phosphoserine.Swiss-Prot 53.0
499Phosphoserine.Swiss-Prot 53.0
508Phosphothreonine.Swiss-Prot 53.0
1296Phosphoserine.Swiss-Prot 53.0
1296Phosphoserine15302935Phospho.ELM 6.0
99Phosphothreonine (ATM)11375976Phospho.ELM 6.0
122Phosphothreonine14729972Phospho.ELM 6.0
419Phosphoserine16565220Phospho.ELM 6.0
422Phosphoserine16565220Phospho.ELM 6.0

Methylation Profile From DiseaseMeth database

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Chromosome

Location

Source

chr15

Promoter: 89060083 - 89062083Agilent_014791

chr15

Promoter: 89060083 - 89062083GSE27584

chr15

Promoter: 89060083 - 89062083Agilent_014791_44K

chr15

Promoter: 89060083 - 89062083Agilent_014791


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