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Genes
BLM
Gene - BLM
full name
Bloom syndrome RecQ like helicase
synonyms
BS, RECQ2, RECQL2, RECQL3, BLM, ENSG00000197299
HGNC
HGNC:1058
Entrez Gene
Gene:641
ENSEMBL
ENSG00000197299
location
chr: 15
start: 91260579
stop: 91358686
strand: +
OMIM
OMIM:604610
: BLM
(Autosomal recessive inheritance)
OMIM:210900
: Bloom syndrome
transcripts
NM_000057.2
pathways
Cell Cycle
[NCBI:1269741]
[REACTOME:R-HSA-1640170]
Cell Cycle Checkpoints
[NCBI:1269742]
[REACTOME:R-HSA-69620]
DNA Double-Strand Break Repair
[NCBI:1309095]
[REACTOME:R-HSA-5693532]
[PUBMED:12897142]
[PUBMED:20965415]
DNA Repair
[NCBI:1270350]
[REACTOME:R-HSA-73894]
[PUBMED:10583946]
[PUBMED:23175119]
Fanconi anemia pathway
[NCBI:377262]
[KEGG:hsa03460]
[PUBMED:19805513]
[PUBMED:18518821]
[PUBMED:18047734]
[PUBMED:20039786]
[PUBMED:21701511]
[PUBMED:20064461]
G2/M Checkpoints
[NCBI:1269753]
[REACTOME:R-HSA-69481]
G2/M DNA damage checkpoint
[NCBI:1269754]
[REACTOME:R-HSA-69473]
Gene Expression
[NCBI:1269649]
[REACTOME:R-HSA-74160]
Generic Transcription Pathway
[NCBI:1269650]
[REACTOME:R-HSA-212436]
[PUBMED:15175151]
[PUBMED:14744435]
[PUBMED:15680972]
[PUBMED:11395415]
[PUBMED:15896744]
[PUBMED:10235266]
[PUBMED:14986688]
[PUBMED:12023297]
[PUBMED:15680973]
[PUBMED:16751179]
[PUBMED:11861166]
[PUBMED:16429119]
[PUBMED:16719718]
[PUBMED:16921404]
[PUBMED:15690163]
HDR through Homologous Recombination (HR) or Single Strand Annealing (SSA)
[NCBI:1309100]
[REACTOME:R-HSA-5693567]
[PUBMED:20965415]
HDR through Homologous Recombination (HRR)
[NCBI:1309102]
[REACTOME:R-HSA-5685942]
[PUBMED:20965415]
HDR through Single Strand Annealing (SSA)
[NCBI:1309108]
[REACTOME:R-HSA-5685938]
[PUBMED:12791985]
[PUBMED:17962301]
[PUBMED:25122754]
[PUBMED:21804533]
[PUBMED:12139939]
[PUBMED:10212258]
[PUBMED:10921897]
[PUBMED:19357644]
[PUBMED:21240188]
[PUBMED:21325134]
[PUBMED:9837724]
[PUBMED:15485900]
[PUBMED:17928296]
[PUBMED:18539610]
[PUBMED:12370410]
[PUBMED:17965729]
[PUBMED:22977173]
[PUBMED:14734547]
[PUBMED:21052091]
Homologous DNA Pairing and Strand Exchange
[NCBI:1309103]
[REACTOME:R-HSA-5693579]
[PUBMED:9880493]
[PUBMED:17996710]
[PUBMED:12912992]
[PUBMED:19369211]
[PUBMED:19268590]
[PUBMED:17996711]
[PUBMED:24141787]
[PUBMED:20871615]
[PUBMED:20965415]
[PUBMED:20871616]
[PUBMED:23149936]
Homologous recombination
[NCBI:83046]
[KEGG:hsa03440]
[PUBMED:12589470]
[PUBMED:15902993]
[PUBMED:16935872]
[PUBMED:17395553]
[PUBMED:18086882]
[PUBMED:17571595]
[PUBMED:18430459]
Homology Directed Repair
[NCBI:1309099]
[REACTOME:R-HSA-5693538]
[PUBMED:11242102]
[PUBMED:20965415]
[PUBMED:11376695]
[PUBMED:12427531]
Meiosis
[NCBI:1269865]
[REACTOME:R-HSA-1500620]
[PUBMED:20051984]
[PUBMED:20364103]
[PUBMED:16543383]
[PUBMED:18948708]
Meiotic recombination
[NCBI:1269866]
[REACTOME:R-HSA-912446]
[PUBMED:16543383]
[PUBMED:20364103]
[PUBMED:20051984]
Metabolism of proteins
[NCBI:1268677]
[REACTOME:R-HSA-392499]
Post-translational protein modification
[NCBI:1268701]
[REACTOME:R-HSA-597592]
Presynaptic phase of homologous DNA pairing and strand exchange
[NCBI:1309104]
[REACTOME:R-HSA-5693616]
[PUBMED:20729858]
[PUBMED:15665856]
[PUBMED:20729832]
[PUBMED:23149936]
[PUBMED:23810717]
[PUBMED:15703751]
[PUBMED:18317453]
[PUBMED:20729859]
[PUBMED:11751635]
Processing of DNA double-strand break ends
[NCBI:1309101]
[REACTOME:R-HSA-5693607]
[PUBMED:25122754]
[PUBMED:18171670]
[PUBMED:20965415]
[PUBMED:22231403]
[PUBMED:25558984]
[PUBMED:19357644]
[PUBMED:21325134]
[PUBMED:21240188]
[PUBMED:21659603]
[PUBMED:23468639]
[PUBMED:25659039]
Regulation of TP53 Activity
[NCBI:1383076]
[REACTOME:R-HSA-5633007]
[PUBMED:19450511]
[PUBMED:20457558]
[PUBMED:23825024]
[PUBMED:25641576]
Regulation of TP53 Activity through Phosphorylation
[NCBI:1383080]
[REACTOME:R-HSA-6804756]
[PUBMED:11780126]
[PUBMED:21317932]
[PUBMED:15866171]
[PUBMED:12393879]
[PUBMED:11740489]
[PUBMED:11447225]
[PUBMED:9733515]
[PUBMED:12851404]
[PUBMED:10884347]
[PUBMED:10710310]
[PUBMED:11239457]
[PUBMED:9925639]
[PUBMED:11546806]
[PUBMED:11551930]
[PUBMED:10570149]
[PUBMED:18490454]
[PUBMED:17591690]
[PUBMED:19965871]
[PUBMED:12064478]
[PUBMED:10673501]
[PUBMED:22611192]
[PUBMED:9843217]
[PUBMED:15053879]
[PUBMED:12914926]
[PUBMED:10673500]
[PUBMED:17349958]
[PUBMED:14702041]
[PUBMED:20959462]
[PUBMED:10435622]
[PUBMED:9733514]
Regulation of Telomerase
[NCBI:137987]
[Pathway Interaction Database:telomerasepathway]
[PUBMED:12037663]
[PUBMED:11191110]
[PUBMED:15381700]
[PUBMED:10637317]
[PUBMED:15314656]
[PUBMED:10601322]
[PUBMED:12545159]
[PUBMED:11110707]
[PUBMED:15371341]
[PUBMED:12681489]
[PUBMED:15824061]
[PUBMED:15048073]
[PUBMED:10850490]
[PUBMED:16730176]
[PUBMED:12181313]
[PUBMED:16890531]
[PUBMED:9837921]
[PUBMED:10224060]
[PUBMED:15331176]
[PUBMED:16522649]
[PUBMED:9822378]
[PUBMED:15316005]
[PUBMED:12699629]
[PUBMED:16843438]
[PUBMED:12151407]
[PUBMED:12135483]
[PUBMED:15655249]
[PUBMED:10888888]
[PUBMED:16765199]
[PUBMED:16869756]
[PUBMED:10837221]
[PUBMED:16135795]
[PUBMED:11074006]
[PUBMED:11191109]
[PUBMED:14712220]
[PUBMED:16508638]
[PUBMED:10471503]
[PUBMED:11854288]
[PUBMED:16785237]
[PUBMED:9130722]
[PUBMED:12956959]
[PUBMED:15710386]
[PUBMED:12586360]
[PUBMED:12377759]
[PUBMED:11433024]
[PUBMED:15843522]
[PUBMED:14749375]
[PUBMED:11274138]
[PUBMED:12676087]
[PUBMED:16166375]
[PUBMED:15371412]
Resolution of D-Loop Structures
[NCBI:1309105]
[REACTOME:R-HSA-5693537]
[PUBMED:12902160]
[PUBMED:20965415]
Resolution of D-loop Structures through Holliday Junction Intermediates
[NCBI:1309106]
[REACTOME:R-HSA-5693568]
[PUBMED:24831703]
[PUBMED:23509288]
[PUBMED:22645308]
[PUBMED:14527420]
[PUBMED:19596236]
[PUBMED:24509834]
[PUBMED:14685245]
[PUBMED:24076221]
[PUBMED:24371268]
Resolution of D-loop Structures through Synthesis-Dependent Strand Annealing (SDSA)
[NCBI:1309107]
[REACTOME:R-HSA-5693554]
[PUBMED:16855289]
[PUBMED:22593209]
[PUBMED:24115439]
[PUBMED:20417600]
[PUBMED:16648486]
[PUBMED:19305001]
[PUBMED:18957201]
SUMO E3 ligases SUMOylate target proteins
[NCBI:1268743]
[REACTOME:R-HSA-3108232]
[PUBMED:20674646]
[PUBMED:17763827]
[PUBMED:19471022]
[PUBMED:23746258]
[PUBMED:24016193]
[PUBMED:23503365]
[PUBMED:21252943]
[PUBMED:17000644]
[PUBMED:24273646]
[PUBMED:22811915]
[PUBMED:21693764]
[PUBMED:23277067]
[PUBMED:21102611]
SUMOylation
[NCBI:1268738]
[REACTOME:R-HSA-2990846]
[PUBMED:21102611]
[PUBMED:20674646]
[PUBMED:23514139]
[PUBMED:19923268]
[PUBMED:20462400]
[PUBMED:17768054]
SUMOylation of DNA damage response and repair proteins
[NCBI:1268744]
[REACTOME:R-HSA-3108214]
[PUBMED:22018829]
[PUBMED:24926426]
[PUBMED:23122649]
[PUBMED:23781231]
[PUBMED:23416108]
[PUBMED:21486569]
[PUBMED:23746258]
[PUBMED:21896653]
[PUBMED:22357966]
[PUBMED:21664912]
Transcriptional Regulation by TP53
[NCBI:1269654]
[REACTOME:R-HSA-3700989]
[PUBMED:26122615]
[PUBMED:19410540]