Protein information
  Protein summary    Phosphorylation site    Dephosphorylation site    Mutation site
  Differential expressed protein    Hyperphosphorylation site    Direct interaction pair    Function Annotation

Protein Summary
UniProt/SwissProt ID:BLM_HUMAN
Description:Bloom syndrome, RecQ helicase-like [Source:HGNC Symbol;Acc:1058]
Location:chr15 q26.1
Node attribute:substrate

Phosphorylation site
PositionPhosphoPeptideCatalytic kinaseSource
S462HLPSNsVSPGDHPRD
S142KKLEFsSSPDSHPRD; phosphoELM
S550RETQPsYDIDNPhosphoSitePlus; HPRD; phosphoELM
S464PSNSVsPGDCLPhosphoSitePlus; HPRD
S434RYRPDsLDGPMPhosphoSitePlus
S336KEDVLsTSKDLHPRD
S1303GISLSsSRGPGHPRD; phosphoELM
T57VSVAKtPVLRNPhosphoSitePlus; HPRD; phosphoELM
T359NPETStDCDARHPRD
S1310RGPGRsAAEELPhosphoSitePlus; HPRD; phosphoELM; SysPTM
T122EVVCTtQNTPTPhosphoSitePlus; phosphoELM; RegPhos
T201AQLYTtNTVKTPhosphoSitePlus
S143KLEFSsSPDSLPhosphoSitePlus; HPRD
T114PDFLQtPKEVVPhosphoSitePlus; HPRD; phosphoELM; SysPTM
S539NKHTAsINDLEPhosphoSitePlus; HPRD
Y736DIPATyLTGDKDEADPhosphoSitePlus
T99PAGQEtQRGGSATMphosphoELM; RegPhos
Y551ETQPSyDIDNFPhosphoSitePlus; HPRD; phosphoELM
S72VTEDFsFSEPLPhosphoSitePlus; HPRD; phosphoELM
S773EKICAsNRLISDEADPhosphoSitePlus
S480GKTGFsATRKNHPRD; RegPhos
S419VDFNKsDASLLPhosphoSitePlus; HPRD; phosphoELM; RegPhos
T508SNWAEtPRLGKPhosphoSitePlus; HPRD; phosphoELM; RegPhos
S304DFVPPsPEEIIPhosphoSitePlus
S48SDNNVsVTNVSPhosphoSitePlus; HPRD; phosphoELM
S269DERDNsEKKKNPhosphoSitePlus
S1290YSEWTsPAEDSPhosphoSitePlus
T766KLLYVtPEKICDEADPhosphoSitePlus
T171SKSFVtPPQSHPhosphoSitePlus; HPRD
T20RHSARtLNNKLPhosphoSitePlus
S714VTVVIsPLRSLDEADPhosphoSitePlus
T68KDVNVtEDFSFPhosphoSitePlus
Y699GKSLCyQLPACDEADPhosphoSitePlus
S1295SPAEDsSPGISPhosphoSitePlus; HPRD; phosphoELM
S499THLQKsFVSSNPhosphoSitePlus; HPRD; phosphoELM; RegPhos
T412RRKLLtEVDFNPhosphoSitePlus; HPRD; phosphoELM
S426ASLLGsLWRYRPhosphoSitePlus; HPRD
Y199FKAQLyTTNTVPhosphoSitePlus
S144LEFSSsPDSLSPhosphoSitePlus; HPRD; phosphoELM
T50NNVSVtNVSVAPhosphoSitePlus
S168SETSKsFVTPPPhosphoSitePlus; HPRD
S601VSERLsSAKTDPhosphoSitePlus; HPRD
S74EDFSFsEPLPNPhosphoSitePlus
S579LAASKsSTAAYHPRD
T832MALTAtANPRVDEADPhosphoSitePlus
S422NKSDAsLLGSLPhosphoSitePlus; HPRD; phosphoELM; RegPhos
T99PAGQEtQRGGSPhosphoSitePlus
S338DVLSTsKDLLSPhosphoSitePlus; HPRD
S1304ISLSSsRGPGRHPRD; phosphoELM
T125CTTQNtPTVKKPhosphoSitePlus; HPRD; SysPTM
S175VTPPQsHFVRVPhosphoSitePlus
T830PVMALtATANPDEADPhosphoSitePlus
S28NKLSLsKPKFSPhosphoSitePlus; HPRD
S282EAELHsTEKVPHPRD
S358LNPETsTDCDAPhosphoSitePlus; HPRD; phosphoELM; SysPTM
S1296PAEDSsPGISLPhosphoSitePlus; HPRD; phosphoELM; RegPhos; SysPTM
S53SVTNVsVAKTPPhosphoSitePlus; HPRD; phosphoELM
T36KFSGFtFKKKTPhosphoSitePlus
T337EDVLStSKDLLHPRD
S646HERFQsLSFPHPhosphoSitePlus
S328KDLDTsDRKEDPhosphoSitePlus; HPRD
Y296FDDDDyDTDFVPhosphoSitePlus

Dephosphorylation site
BLM_HUMAN do not have dephosphorylation site.

Mutation site
Ensembl IDVariationSourceCancer namePubmed
ENSP00000347232P30RCOSMICOvarian Cancer21720365
ENSP00000347232I1279VCOSMICOvarian Cancer21720365
ENSP00000347232C396RBIOMARTHepatocellular Carcinoma21930507, 21930502
ENSP00000347232H805YBIOMARTchronic lymphocytic leukemia21930507, 21930502
ENSP00000347232H963QBIOMARTHepatocellular Carcinoma21930507, 21930502
ENSP00000347232A1327ECOSMICSkin Cancer21984974
ENSP00000347232R85SCOSMICOvarian Cancer21720365
ENSP00000347232H660YCOSMICMelanoma21499247
ENSP00000347232T830MCOSMICOvarian Cancer21720365
ENSP00000347232T830MTCGAOvarian Cancer21720365, 18772890

Differential expressed protein
Ensembl IDCancer nameDesignSampleChangeRatioPubmed
ENSP00000347232Testicular CancerNormal vs. Cancercell lineUp18489135

Hyperphosphorylation site
BLM_HUMAN do not have hyperphosphorylation site.

Direct Interaction Pair
SourceTargetRelationshipResource
ATM_HUMANBLM_HUMANkinase -> substrateRegPhos
ZAGL2_HUMANBLM_HUMANkinase -> substrateRegPhos

Function Annotation
KEGG Pathway
KEGG IDPathway
hsa03440Homologous recombination
hsa03460Fanconi anemia pathway

Gene Ontology
GO IDGO_TermEvidenceOntology
GO:0006974response to DNA damage stimulusIMPbiological_process
GO:0046632alpha-beta T cell differentiationIEAbiological_process
GO:0003677DNA bindingIEAmolecular_function
GO:0051098regulation of bindingIEAbiological_process
GO:0005515protein bindingIEAmolecular_function
GO:0003697single-stranded DNA bindingIDAmolecular_function
GO:0009378four-way junction helicase activityIDAmolecular_function
GO:0000729DNA double-strand break processingIDAbiological_process
GO:0016605PML bodyIDAcellular_component
GO:0005524ATP bindingIDAmolecular_function
GO:0006281DNA repairIEAbiological_process
GO:0003676nucleic acid bindingIEAmolecular_function
GO:0048478replication fork protectionNASbiological_process
GO:0005622intracellularIEAcellular_component
GO:0000079regulation of cyclin-dependent protein kinase actiIMPbiological_process
GO:0045950negative regulation of mitotic recombinationIEAbiological_process
GO:0000724double-strand break repair via homologous recombinNASbiological_process
GO:0000800lateral elementIDAcellular_component
GO:0000723telomere maintenanceIEAbiological_process
GO:0051880G-quadruplex DNA bindingIDAmolecular_function
GO:0005634nucleusIDAcellular_component
GO:0045893positive regulation of transcription, DNA-dependenIDAbiological_process
GO:0051276chromosome organizationIEAbiological_process
GO:0000085G2 phase of mitotic cell cycleNASbiological_process
GO:0005730nucleolusIDAcellular_component
GO:0016818hydrolase activity, acting on acid anhydrides, in IEAmolecular_function
GO:0000405bubble DNA bindingIDAmolecular_function
GO:0004386helicase activityIDAmolecular_function
GO:0002039p53 bindingIPImolecular_function
GO:0051782negative regulation of cell divisionIMPbiological_process
GO:0000781chromosome, telomeric regionIDAcellular_component
GO:0008026ATP-dependent helicase activityIDAmolecular_function
GO:0031572G2/M transition DNA damage checkpointNASbiological_process
GO:0000733DNA strand renaturationIDAbiological_process
GO:0005737cytoplasmIDAcellular_component
GO:0016363nuclear matrixIDAcellular_component
GO:0003824catalytic activityIEAmolecular_function
GO:0010165response to X-rayIDAbiological_process
GO:0000166nucleotide bindingIEAmolecular_function
GO:0036310annealing helicase activityIDAmolecular_function
GO:0001673male germ cell nucleusIEAcellular_component
GO:0044237cellular metabolic processIEAbiological_process
GO:0045910negative regulation of DNA recombinationIMPbiological_process
GO:0005515protein bindingIPImolecular_function
GO:0005657replication forkIEAcellular_component
GO:0006281DNA repairNASbiological_process
GO:0031297replication fork processingIDAbiological_process
GO:0006200ATP catabolic processIDAbiological_process
GO:0051259protein oligomerizationIDAbiological_process
GO:0043140ATP-dependent 3'-5' DNA helicase activityIEAmolecular_function
GO:0006260DNA replicationIEAbiological_process
GO:0016887ATPase activityIDAmolecular_function
GO:0005737cytoplasmIEAcellular_component
GO:0004003ATP-dependent DNA helicase activityIMPmolecular_function
GO:0046641positive regulation of alpha-beta T cell proliferaIEAbiological_process
GO:0006310DNA recombinationNASbiological_process
GO:0045120pronucleusIEAcellular_component


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