Logo
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]