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HUMAN:BLM

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Species (Taxon ID) Homo sapiens (Human). (9606)
Gene Name(s) BLM (synonyms: RECQ2, RECQL3)
Protein Name(s) Bloom syndrome protein

DNA helicase, RecQ-like type 2 RecQ2 RecQ protein-like 3

External Links
UniProt P54132
EMBL U39817
AY886902
BC093622
BC101567
BC115030
BC115032
CCDS CCDS10363.1
PIR A57570
RefSeq NP_000048.1
NP_001274175.1
NP_001274176.1
NP_001274177.1
UniGene Hs.725208
PDB 2KV2
2MH9
2RRD
3WE2
3WE3
4CDG
4CGZ
4O3M
PDBsum 2KV2
2MH9
2RRD
3WE2
3WE3
4CDG
4CGZ
4O3M
ProteinModelPortal P54132
SMR P54132
BioGrid 107110
DIP DIP-33322N
IntAct P54132
MINT MINT-131918
STRING 9606.ENSP00000347232
BindingDB P54132
ChEMBL CHEMBL1293237
PhosphoSite P54132
BioMuta BLM
DMDM 1705486
MaxQB P54132
PaxDb P54132
PRIDE P54132
Ensembl ENST00000355112
GeneID 641
KEGG hsa:641
UCSC uc002bpr.3
CTD 641
GeneCards GC15P091260
GeneReviews BLM
HGNC HGNC:1058
HPA HPA005689
MIM 210900
604610
neXtProt NX_P54132
Orphanet 125
PharmGKB PA25369
eggNOG COG0514
GeneTree ENSGT00550000074520
HOGENOM HOG000095239
HOVERGEN HBG004850
InParanoid P54132
KO K10901
OMA CENITEC
OrthoDB EOG72NRPB
PhylomeDB P54132
TreeFam TF317801
Reactome REACT_27271
REACT_355174
EvolutionaryTrace P54132
GeneWiki Bloom_syndrome_protein
GenomeRNAi 641
NextBio 2600
PMAP-CutDB P54132
PRO PR:P54132
Proteomes UP000005640
Bgee P54132
CleanEx HS_BLM
ExpressionAtlas P54132
Genevisible P54132
GO GO:0005737
GO:0000800
GO:0001673
GO:0000228
GO:0016363
GO:0005730
GO:0005654
GO:0005634
GO:0016605
GO:0045120
GO:0005657
GO:0036310
GO:0005524
GO:0043140
GO:0004003
GO:0008026
GO:0016887
GO:0000405
GO:0009378
GO:0051880
GO:0004386
GO:0002039
GO:0003697
GO:0046632
GO:0044267
GO:0072757
GO:0006974
GO:0072711
GO:0071479
GO:0000729
GO:0032508
GO:0006310
GO:0006281
GO:0000733
GO:0000724
GO:0007095
GO:0051782
GO:0045910
GO:0045950
GO:0070244
GO:0046641
GO:0045893
GO:0043687
GO:0051259
GO:0016925
GO:0051098
GO:0000079
GO:0031297
GO:0048478
GO:0010165
GO:0000723
Gene3D 1.10.10.10
1.10.150.80
3.40.50.300
InterPro IPR012532
IPR011545
IPR002464
IPR004589
IPR014001
IPR001650
IPR010997
IPR002121
IPR027417
IPR018982
IPR011991
Pfam PF08072
PF00270
PF00271
PF00570
PF09382
SMART SM00487
SM00490
SM00341
SM00956
SUPFAM SSF47819
SSF52540
TIGRFAMs TIGR00614
PROSITE PS00690
PS51192
PS51194
PS50967

Annotations

Qualifier GO ID GO term name Reference ECO ID ECO term name with/from Aspect Extension Notes Status
GO:0005737

cytoplasm

ECO:0000314

C

Source: HPA

Missing: reference

enables

GO:0008270

zinc ion binding

PMID:25901030[1]

ECO:0000314

direct assay evidence used in manual assertion

F

Seeded From UniProt

complete

enables

GO:0008094

DNA-dependent ATPase activity

PMID:25901030[1]

ECO:0000314

direct assay evidence used in manual assertion

F

Seeded From UniProt

complete

enables

GO:0004003

ATP-dependent DNA helicase activity

PMID:25901030[1]

ECO:0000314

direct assay evidence used in manual assertion

F

Seeded From UniProt

complete

involved_in

GO:0032508

DNA duplex unwinding

PMID:25901030[1]

ECO:0000314

direct assay evidence used in manual assertion

P

Seeded From UniProt

complete

involved_in

GO:0032508

DNA duplex unwinding

PMID:24816114[2]

ECO:0000314

direct assay evidence used in manual assertion

P

Seeded From UniProt

complete

enables

GO:0004003

ATP-dependent DNA helicase activity

PMID:24816114[2]

ECO:0000314

direct assay evidence used in manual assertion

F

Seeded From UniProt

complete

enables

GO:0008094

DNA-dependent ATPase activity

PMID:24816114[2]

ECO:0000314

direct assay evidence used in manual assertion

F

Seeded From UniProt

complete

enables

GO:0003677

DNA binding

PMID:24816114[2]

ECO:0000314

direct assay evidence used in manual assertion

F

Seeded From UniProt

complete

enables

GO:0005524

ATP binding

PMID:24816114[2]

ECO:0000314

direct assay evidence used in manual assertion

F

Seeded From UniProt

complete

enables

GO:0008270

zinc ion binding

PMID:24816114[2]

ECO:0000314

direct assay evidence used in manual assertion

F

Seeded From UniProt

complete

enables

GO:0061821

telomeric D-loop binding

PMID:19734539[3]

ECO:0000314

direct assay evidence used in manual assertion

F

part_of:(GO:0061820)

Seeded From UniProt

complete

involved_in

GO:0051260

protein homooligomerization

PMID:28228481[4]

ECO:0000314

direct assay evidence used in manual assertion

P

Seeded From UniProt

complete

involved_in

GO:0051259

protein complex oligomerization

PMID:28228481[4]

ECO:0000314

direct assay evidence used in manual assertion

P

Seeded From UniProt

complete

enables

GO:0042803

protein homodimerization activity

PMID:28228481[4]

ECO:0000314

direct assay evidence used in manual assertion

F

Seeded From UniProt

complete

involved_in

GO:0090329

regulation of DNA-dependent DNA replication

PMID:25901030[1]

ECO:0000315

mutant phenotype evidence used in manual assertion

P

Seeded From UniProt

complete

enables

GO:0005524

ATP binding

PMID:25901030[1]

ECO:0000314

direct assay evidence used in manual assertion

F

Seeded From UniProt

complete

enables

GO:0000400

four-way junction DNA binding

PMID:25901030[1]

ECO:0000314

direct assay evidence used in manual assertion

F

Seeded From UniProt

complete

enables

GO:0009378

four-way junction helicase activity

PMID:25901030[1]

ECO:0000314

direct assay evidence used in manual assertion

F

Seeded From UniProt

complete

enables

GO:0061749

forked DNA-dependent helicase activity

PMID:25901030[1]

ECO:0000314

direct assay evidence used in manual assertion

F

Seeded From UniProt

complete

involved_in

GO:0061820

telomeric D-loop disassembly

PMID:19734539[3]

ECO:0000314

direct assay evidence used in manual assertion

P

Seeded From UniProt

complete

enables

GO:1905773

8-hydroxy-2'-deoxyguanosine DNA binding

PMID:19734539[3]

ECO:0000314

direct assay evidence used in manual assertion

F

Seeded From UniProt

complete

enables

GO:0003678

DNA helicase activity

PMID:19734539[3]

ECO:0000314

direct assay evidence used in manual assertion

F

Seeded From UniProt

complete

enables

GO:0000403

Y-form DNA binding

PMID:11735402[5]

ECO:0000314

direct assay evidence used in manual assertion

F

Seeded From UniProt

complete

enables

GO:0061749

forked DNA-dependent helicase activity

PMID:11735402[5]

ECO:0000314

direct assay evidence used in manual assertion

F

Seeded From UniProt

complete

enables

GO:0000400

four-way junction DNA binding

PMID:11735402[5]

ECO:0000314

direct assay evidence used in manual assertion

F

Seeded From UniProt

complete

enables

GO:0000405

bubble DNA binding

PMID:11735402[5]

ECO:0000314

direct assay evidence used in manual assertion

F

part_of:(GO:0032508)

Seeded From UniProt

complete

involved_in

GO:0032508

DNA duplex unwinding

PMID:11735402[5]

ECO:0000314

direct assay evidence used in manual assertion

P

Seeded From UniProt

complete

enables

GO:0009378

four-way junction helicase activity

PMID:11735402[5]

ECO:0000314

direct assay evidence used in manual assertion

F

Seeded From UniProt

complete

enables

GO:0051880

G-quadruplex DNA binding

PMID:11735402[5]

ECO:0000314

direct assay evidence used in manual assertion

F

Seeded From UniProt

complete

involved_in

GO:0044806

G-quadruplex DNA unwinding

PMID:11735402[5]

ECO:0000314

direct assay evidence used in manual assertion

P

Seeded From UniProt

complete

part_of

GO:0005657

replication fork

GO_REF:0000024

ECO:0000250

sequence similarity evidence used in manual assertion

UniProtKB:O88700

C

coincident_with:(SO:0000624)

Seeded From UniProt

complete

involved_in

GO:0044806

G-quadruplex DNA unwinding

GO_REF:0000024

ECO:0000250

sequence similarity evidence used in manual assertion

UniProtKB:O88700

P

occurs_at:(GO:0000781)

Seeded From UniProt

complete

involved_in

GO:0006260

DNA replication

GO_REF:0000024

ECO:0000250

sequence similarity evidence used in manual assertion

UniProtKB:O88700

P

occurs_at:(GO:0000781)

Seeded From UniProt

complete

enables

GO:0000400

four-way junction DNA binding

PMID:20639533[6]

ECO:0000314

direct assay evidence used in manual assertion

F

Seeded From UniProt

complete

involved_in

GO:0072757

cellular response to camptothecin

PMID:23509288[7]

ECO:0000314

direct assay evidence used in manual assertion

P

Seeded From UniProt

complete

involved_in

GO:0072711

cellular response to hydroxyurea

PMID:23509288[7]

ECO:0000314

direct assay evidence used in manual assertion

P

Seeded From UniProt

complete

involved_in

GO:0071479

cellular response to ionizing radiation

PMID:23509288[7]

ECO:0000314

direct assay evidence used in manual assertion

P

Seeded From UniProt

complete

enables

GO:0051880

G-quadruplex DNA binding

PMID:11433031[8]

ECO:0000314

direct assay evidence used in manual assertion

F

Seeded From UniProt

complete

involved_in

GO:0051782

negative regulation of cell division

PMID:11781842[9]

ECO:0000315

mutant phenotype evidence used in manual assertion

P

Seeded From UniProt

complete

involved_in

GO:0051259

protein complex oligomerization

PMID:10359700[10]

ECO:0000314

direct assay evidence used in manual assertion

P

Seeded From UniProt

complete

involved_in

GO:0048478

replication fork protection

PMID:10779560[11]

ECO:0000303

author statement without traceable support used in manual assertion

P

Seeded From UniProt

complete

involved_in

GO:0045910

negative regulation of DNA recombination

PMID:9671747[12]

ECO:0000315

mutant phenotype evidence used in manual assertion

P

Seeded From UniProt

complete

involved_in

GO:0045893

positive regulation of transcription, DNA-templated

PMID:11781842[9]

ECO:0000314

direct assay evidence used in manual assertion

P

Seeded From UniProt

complete

enables

GO:0036310

annealing helicase activity

PMID:17878217[13]

ECO:0000314

direct assay evidence used in manual assertion

F

Seeded From UniProt

complete

involved_in

GO:0007095

mitotic G2 DNA damage checkpoint

PMID:11309417[14]

ECO:0000314

direct assay evidence used in manual assertion

P

Seeded From UniProt

complete

involved_in

GO:0031297

replication fork processing

PMID:17115688[15]

ECO:0000314

direct assay evidence used in manual assertion

P

Seeded From UniProt

complete

enables

GO:0016887

ATPase activity

PMID:17878217[13]

ECO:0000314

direct assay evidence used in manual assertion

F

Seeded From UniProt

complete

part_of

GO:0016605

PML body

PMID:10728666[16]

ECO:0000314

direct assay evidence used in manual assertion

C

Seeded From UniProt

complete

colocalizes_with

GO:0016605

PML body

PMID:10779560[11]

ECO:0000314

direct assay evidence used in manual assertion

C

Seeded From UniProt

complete

part_of

GO:0016363

nuclear matrix

PMID:11309417[14]

ECO:0000314

direct assay evidence used in manual assertion

C

Seeded From UniProt

complete

involved_in

GO:0010165

response to X-ray

PMID:11309417[14]

ECO:0000314

direct assay evidence used in manual assertion

P

Seeded From UniProt

complete

enables

GO:0009378

four-way junction helicase activity

PMID:11433031[8]

ECO:0000314

direct assay evidence used in manual assertion

F

Seeded From UniProt

complete

enables

GO:0009378

four-way junction helicase activity

PMID:12818200[17]

ECO:0000314

direct assay evidence used in manual assertion

F

Seeded From UniProt

complete

enables

GO:0008026

ATP-dependent helicase activity

PMID:12818200[17]

ECO:0000314

direct assay evidence used in manual assertion

F

Seeded From UniProt

complete

involved_in

GO:0006974

cellular response to DNA damage stimulus

PMID:12818200[17]

ECO:0000315

mutant phenotype evidence used in manual assertion

P

Seeded From UniProt

complete

involved_in

GO:0006974

cellular response to DNA damage stimulus

PMID:23509288[7]

ECO:0000314

direct assay evidence used in manual assertion

P

Seeded From UniProt

complete

involved_in

GO:0006310

DNA recombination

PMID:10728666[16]

ECO:0000303

author statement without traceable support used in manual assertion

P

Seeded From UniProt

complete

involved_in

GO:0006310

DNA recombination

PMID:7585968[18]

ECO:0000303

author statement without traceable support used in manual assertion

P

Seeded From UniProt

complete

involved_in

GO:0006281

DNA repair

PMID:7585968[18]

ECO:0000303

author statement without traceable support used in manual assertion

P

Seeded From UniProt

complete

part_of

GO:0005730

nucleolus

PMID:10779560[11]

ECO:0000314

direct assay evidence used in manual assertion

C

Seeded From UniProt

complete

part_of

GO:0005634

nucleus

PMID:9388480[19]

ECO:0000314

direct assay evidence used in manual assertion

C

Seeded From UniProt

complete

part_of

GO:0005634

nucleus

PMID:11500040[20]

ECO:0000314

direct assay evidence used in manual assertion

C

Seeded From UniProt

complete

enables

GO:0005524

ATP binding

PMID:17878217[13]

ECO:0000314

direct assay evidence used in manual assertion

F

Seeded From UniProt

complete

enables

GO:0004386

helicase activity

PMID:17878217[13]

ECO:0000314

direct assay evidence used in manual assertion

F

Seeded From UniProt

complete

enables

GO:0004386

helicase activity

PMID:12181313[21]

ECO:0000314

direct assay evidence used in manual assertion

F

Seeded From UniProt

complete

enables

GO:0004386

helicase activity

PMID:10871376[22]

ECO:0000314

direct assay evidence used in manual assertion

F

Seeded From UniProt

complete

enables

GO:0004003

ATP-dependent DNA helicase activity

PMID:21325134[23]

ECO:0000315

mutant phenotype evidence used in manual assertion

F

Seeded From UniProt

complete

enables

GO:0004003

ATP-dependent DNA helicase activity

PMID:9388193[24]

ECO:0000314

direct assay evidence used in manual assertion

F

Seeded From UniProt

complete

enables

GO:0003697

single-stranded DNA binding

PMID:12818200[17]

ECO:0000314

direct assay evidence used in manual assertion

F

Seeded From UniProt

complete

enables

GO:0002039

p53 binding

PMID:11781842[9]

ECO:0000353

physical interaction evidence used in manual assertion

UniProtKB:P04637

F

Seeded From UniProt

complete

part_of

GO:0000800

lateral element

PMID:10728666[16]

ECO:0000314

direct assay evidence used in manual assertion

C

Seeded From UniProt

complete

colocalizes_with

GO:0000781

chromosome, telomeric region

PMID:10779560[11]

ECO:0000314

direct assay evidence used in manual assertion

C

Seeded From UniProt

complete

involved_in

GO:0000729

DNA double-strand break processing

PMID:21325134[23]

ECO:0000314

direct assay evidence used in manual assertion

P

Seeded From UniProt

complete

involved_in

GO:0000724

double-strand break repair via homologous recombination

PMID:11309417[14]

ECO:0000303

author statement without traceable support used in manual assertion

P

Seeded From UniProt

complete

enables

GO:0000405

bubble DNA binding

PMID:11433031[8]

ECO:0000314

direct assay evidence used in manual assertion

F

Seeded From UniProt

complete

part_of

GO:0000228

nuclear chromosome

PMID:23509288[7]

ECO:0000314

direct assay evidence used in manual assertion

C

Seeded From UniProt

complete

involved_in

GO:0000079

regulation of cyclin-dependent protein serine/threonine kinase activity

PMID:15604258[25]

ECO:0000315

mutant phenotype evidence used in manual assertion

P

Seeded From UniProt

complete

enables

GO:0003697

single-stranded DNA binding

PMID:20639533[6]

ECO:0000314

direct assay evidence used in manual assertion

F

Seeded From UniProt

complete

enables

GO:0061849

telomeric G-quadruplex DNA binding

PMID:19734539[3]

ECO:0000305

curator inference used in manual assertion

GO:0061821,GO:1905773

F

Seeded From UniProt

complete

enables

GO:1905773

8-hydroxy-2'-deoxyguanosine DNA binding

PMID:21873635[26]

ECO:0000318

biological aspect of ancestor evidence used in manual assertion

PANTHER:PTN001009191
UniProtKB:P54132

F

Seeded From UniProt

complete

involved_in

GO:1905168

positive regulation of double-strand break repair via homologous recombination

PMID:21873635[26]

ECO:0000318

biological aspect of ancestor evidence used in manual assertion

MGI:MGI:1328362
PANTHER:PTN001009191

P

Seeded From UniProt

complete

involved_in

GO:1901291

negative regulation of double-strand break repair via single-strand annealing

PMID:21873635[26]

ECO:0000318

biological aspect of ancestor evidence used in manual assertion

FB:FBgn0002906
PANTHER:PTN001009191

P

Seeded From UniProt

complete

involved_in

GO:0090329

regulation of DNA-dependent DNA replication

PMID:21873635[26]

ECO:0000318

biological aspect of ancestor evidence used in manual assertion

PANTHER:PTN001009191
UniProtKB:P54132

P

Seeded From UniProt

complete

involved_in

GO:0072711

cellular response to hydroxyurea

PMID:21873635[26]

ECO:0000318

biological aspect of ancestor evidence used in manual assertion

PANTHER:PTN001009191
UniProtKB:P54132

P

Seeded From UniProt

complete

involved_in

GO:0071479

cellular response to ionizing radiation

PMID:21873635[26]

ECO:0000318

biological aspect of ancestor evidence used in manual assertion

PANTHER:PTN001009191
UniProtKB:P54132

P

Seeded From UniProt

complete

involved_in

GO:0071139

resolution of recombination intermediates

PMID:21873635[26]

ECO:0000318

biological aspect of ancestor evidence used in manual assertion

PANTHER:PTN001009191
WB:WBGene00001865

P

Seeded From UniProt

complete

involved_in

GO:0070244

negative regulation of thymocyte apoptotic process

PMID:21873635[26]

ECO:0000318

biological aspect of ancestor evidence used in manual assertion

MGI:MGI:1328362
PANTHER:PTN002672422

P

Seeded From UniProt

complete

enables

GO:0061821

telomeric D-loop binding

PMID:21873635[26]

ECO:0000318

biological aspect of ancestor evidence used in manual assertion

PANTHER:PTN001009191
UniProtKB:P54132

F

Seeded From UniProt

complete

involved_in

GO:0061820

telomeric D-loop disassembly

PMID:21873635[26]

ECO:0000318

biological aspect of ancestor evidence used in manual assertion

PANTHER:PTN001009191
UniProtKB:P54132

P

Seeded From UniProt

complete

enables

GO:0061749

forked DNA-dependent helicase activity

PMID:21873635[26]

ECO:0000318

biological aspect of ancestor evidence used in manual assertion

PANTHER:PTN001009191
UniProtKB:P54132

F

Seeded From UniProt

complete

involved_in

GO:0051782

negative regulation of cell division

PMID:21873635[26]

ECO:0000318

biological aspect of ancestor evidence used in manual assertion

PANTHER:PTN001009191
UniProtKB:P54132

P

Seeded From UniProt

complete

involved_in

GO:0051307

meiotic chromosome separation

PMID:21873635[26]

ECO:0000318

biological aspect of ancestor evidence used in manual assertion

PANTHER:PTN001009191
WB:WBGene00001865

P

Seeded From UniProt

complete

involved_in

GO:0051260

protein homooligomerization

PMID:21873635[26]

ECO:0000318

biological aspect of ancestor evidence used in manual assertion

PANTHER:PTN001009191
UniProtKB:P54132
UniProtKB:Q9I920

P

Seeded From UniProt

complete

involved_in

GO:0051259

protein complex oligomerization

PMID:21873635[26]

ECO:0000318

biological aspect of ancestor evidence used in manual assertion

PANTHER:PTN001009191
UniProtKB:P54132
UniProtKB:Q9I920

P

Seeded From UniProt

complete

involved_in

GO:0046641

positive regulation of alpha-beta T cell proliferation

PMID:21873635[26]

ECO:0000318

biological aspect of ancestor evidence used in manual assertion

MGI:MGI:1328362
PANTHER:PTN002672422

P

Seeded From UniProt

complete

involved_in

GO:0046632

alpha-beta T cell differentiation

PMID:21873635[26]

ECO:0000318

biological aspect of ancestor evidence used in manual assertion

MGI:MGI:1328362
PANTHER:PTN002672422

P

Seeded From UniProt

complete

involved_in

GO:0045950

negative regulation of mitotic recombination

PMID:21873635[26]

ECO:0000318

biological aspect of ancestor evidence used in manual assertion

MGI:MGI:1328362
PANTHER:PTN001009191
ZFIN:ZDB-GENE-070702-5

P

Seeded From UniProt

complete

involved_in

GO:0045893

positive regulation of transcription, DNA-templated

PMID:21873635[26]

ECO:0000318

biological aspect of ancestor evidence used in manual assertion

PANTHER:PTN001009191
UniProtKB:P54132

P

Seeded From UniProt

complete

part_of

GO:0045120

pronucleus

PMID:21873635[26]

ECO:0000318

biological aspect of ancestor evidence used in manual assertion

MGI:MGI:1328362
PANTHER:PTN001009191

C

Seeded From UniProt

complete

involved_in

GO:0045003

double-strand break repair via synthesis-dependent strand annealing

PMID:21873635[26]

ECO:0000318

biological aspect of ancestor evidence used in manual assertion

FB:FBgn0002906
PANTHER:PTN001009191

P

Seeded From UniProt

complete

involved_in

GO:0044806

G-quadruplex DNA unwinding

PMID:21873635[26]

ECO:0000318

biological aspect of ancestor evidence used in manual assertion

MGI:MGI:1328362
PANTHER:PTN001009191
UniProtKB:P54132

P

Seeded From UniProt

complete

enables

GO:0043140

ATP-dependent 3'-5' DNA helicase activity

PMID:21873635[26]

ECO:0000318

biological aspect of ancestor evidence used in manual assertion

FB:FBgn0002906
FB:FBgn0040290
MGI:MGI:1328362
PANTHER:PTN000344873
PomBase:SPAC2G11.12
UniProtKB:O94761
WB:WBGene00006944

F

Seeded From UniProt

complete

involved_in

GO:0043066

negative regulation of apoptotic process

PMID:21873635[26]

ECO:0000318

biological aspect of ancestor evidence used in manual assertion

PANTHER:PTN001009191
WB:WBGene00001865

P

Seeded From UniProt

complete

enables

GO:0042803

protein homodimerization activity

PMID:21873635[26]

ECO:0000318

biological aspect of ancestor evidence used in manual assertion

PANTHER:PTN001009191
UniProtKB:P54132
UniProtKB:Q9I920

F

Seeded From UniProt

complete

enables

GO:0036310

annealing helicase activity

PMID:21873635[26]

ECO:0000318

biological aspect of ancestor evidence used in manual assertion

PANTHER:PTN001009191
UniProtKB:P54132

F

Seeded From UniProt

complete

involved_in

GO:0032508

DNA duplex unwinding

PMID:21873635[26]

ECO:0000318

biological aspect of ancestor evidence used in manual assertion

FB:FBgn0002906
FB:FBgn0040290
PANTHER:PTN000344873
PomBase:SPAC2G11.12
SGD:S000004802
TAIR:locus:2127998
TAIR:locus:2180255
TAIR:locus:2197555
UniProtKB:O94761
UniProtKB:P54132
UniProtKB:Q14191
UniProtKB:Q8I2W7
UniProtKB:Q9I920

P

Seeded From UniProt

complete

involved_in

GO:0031297

replication fork processing

PMID:21873635[26]

ECO:0000318

biological aspect of ancestor evidence used in manual assertion

PANTHER:PTN001009191
UniProtKB:P54132

P

Seeded From UniProt

complete

colocalizes_with

GO:0016605

PML body

PMID:21873635[26]

ECO:0000318

biological aspect of ancestor evidence used in manual assertion

PANTHER:PTN001009191
UniProtKB:P54132

C

Seeded From UniProt

complete

part_of

GO:0016363

nuclear matrix

PMID:21873635[26]

ECO:0000318

biological aspect of ancestor evidence used in manual assertion

PANTHER:PTN001009191
UniProtKB:P54132

C

Seeded From UniProt

complete

involved_in

GO:0010705

meiotic DNA double-strand break processing involved in reciprocal meiotic recombination

PMID:21873635[26]

ECO:0000318

biological aspect of ancestor evidence used in manual assertion

PANTHER:PTN001009191
WB:WBGene00001865

P

Seeded From UniProt

complete

involved_in

GO:0010165

response to X-ray

PMID:21873635[26]

ECO:0000318

biological aspect of ancestor evidence used in manual assertion

PANTHER:PTN001009191
UniProtKB:P54132
WB:WBGene00001865

P

Seeded From UniProt

complete

enables

GO:0009378

four-way junction helicase activity

PMID:21873635[26]

ECO:0000318

biological aspect of ancestor evidence used in manual assertion

PANTHER:PTN000344873
TAIR:locus:2127998
TAIR:locus:2197555
UniProtKB:P54132
UniProtKB:Q14191

F

Seeded From UniProt

complete

enables

GO:0008270

zinc ion binding

PMID:21873635[26]

ECO:0000318

biological aspect of ancestor evidence used in manual assertion

PANTHER:PTN001009191
UniProtKB:P54132

F

Seeded From UniProt

complete

involved_in

GO:0007095

mitotic G2 DNA damage checkpoint

PMID:21873635[26]

ECO:0000318

biological aspect of ancestor evidence used in manual assertion

PANTHER:PTN001009191
UniProtKB:P54132

P

Seeded From UniProt

complete

involved_in

GO:0006310

DNA recombination

PMID:21873635[26]

ECO:0000318

biological aspect of ancestor evidence used in manual assertion

EcoGene:EG10833
PANTHER:PTN000344873
TAIR:locus:2127998
TAIR:locus:2197394
TAIR:locus:2206031

P

Seeded From UniProt

complete

involved_in

GO:0006303

double-strand break repair via nonhomologous end joining

PMID:21873635[26]

ECO:0000318

biological aspect of ancestor evidence used in manual assertion

FB:FBgn0002906
PANTHER:PTN001009191

P

Seeded From UniProt

complete

involved_in

GO:0006281

DNA repair

PMID:21873635[26]

ECO:0000318

biological aspect of ancestor evidence used in manual assertion

EcoGene:EG10833
FB:FBgn0002906
MGI:MGI:1328362
PANTHER:PTN000344873
TAIR:locus:2180255
TAIR:locus:2197394
UniProtKB:O94762

P

Seeded From UniProt

complete

part_of

GO:0005829

cytosol

PMID:21873635[26]

ECO:0000318

biological aspect of ancestor evidence used in manual assertion

PANTHER:PTN001009191
UniProtKB:P54132

C

Seeded From UniProt

complete

part_of

GO:0005737

cytoplasm

PMID:21873635[26]

ECO:0000318

biological aspect of ancestor evidence used in manual assertion

EcoGene:EG10833
FB:FBgn0040290
MGI:MGI:1328362
PANTHER:PTN000344873

C

Seeded From UniProt

complete

part_of

GO:0005730

nucleolus

PMID:21873635[26]

ECO:0000318

biological aspect of ancestor evidence used in manual assertion

PANTHER:PTN001009191
UniProtKB:P54132

C

Seeded From UniProt

complete

part_of

GO:0005694

chromosome

PMID:21873635[26]

ECO:0000318

biological aspect of ancestor evidence used in manual assertion

PANTHER:PTN000344873
WB:WBGene00006944

C

Seeded From UniProt

complete

part_of

GO:0005657

replication fork

PMID:21873635[26]

ECO:0000318

biological aspect of ancestor evidence used in manual assertion

MGI:MGI:1328362
PANTHER:PTN001009191

C

Seeded From UniProt

complete

part_of

GO:0005634

nucleus

PMID:21873635[26]

ECO:0000318

biological aspect of ancestor evidence used in manual assertion

FB:FBgn0002906
FB:FBgn0027375
FB:FBgn0040290
MGI:MGI:109635
PANTHER:PTN000749808
UniProtKB:O94762
UniProtKB:P46063
UniProtKB:P54132
WB:WBGene00004322
WB:WBGene00006944

C

Seeded From UniProt

complete

enables

GO:0005524

ATP binding

PMID:21873635[26]

ECO:0000318

biological aspect of ancestor evidence used in manual assertion

PANTHER:PTN001009191
UniProtKB:P54132

F

Seeded From UniProt

complete

enables

GO:0003697

single-stranded DNA binding

PMID:21873635[26]

ECO:0000318

biological aspect of ancestor evidence used in manual assertion

PANTHER:PTN001009191
UniProtKB:P54132

F

Seeded From UniProt

complete

enables

GO:0003677

DNA binding

PMID:21873635[26]

ECO:0000318

biological aspect of ancestor evidence used in manual assertion

EcoGene:EG10833
PANTHER:PTN000344873
UniProtKB:P54132
UniProtKB:Q14191
UniProtKB:Q9I920

F

Seeded From UniProt

complete

enables

GO:0002039

p53 binding

PMID:21873635[26]

ECO:0000318

biological aspect of ancestor evidence used in manual assertion

PANTHER:PTN001009191
UniProtKB:P54132

F

Seeded From UniProt

complete

part_of

GO:0000800

lateral element

PMID:21873635[26]

ECO:0000318

biological aspect of ancestor evidence used in manual assertion

PANTHER:PTN001009191
UniProtKB:P54132

C

Seeded From UniProt

complete

colocalizes_with

GO:0000781

chromosome, telomeric region

PMID:21873635[26]

ECO:0000318

biological aspect of ancestor evidence used in manual assertion

MGI:MGI:1328362
PANTHER:PTN001009191
UniProtKB:P54132

C

Seeded From UniProt

complete

involved_in

GO:0000732

strand displacement

PMID:21873635[26]

ECO:0000318

biological aspect of ancestor evidence used in manual assertion

FB:FBgn0002906
PANTHER:PTN001009191

P

Seeded From UniProt

complete

involved_in

GO:0000731

DNA synthesis involved in DNA repair

PMID:21873635[26]

ECO:0000318

biological aspect of ancestor evidence used in manual assertion

FB:FBgn0002906
PANTHER:PTN001009191

P

Seeded From UniProt

complete

involved_in

GO:0000724

double-strand break repair via homologous recombination

PMID:21873635[26]

ECO:0000318

biological aspect of ancestor evidence used in manual assertion

FB:FBgn0002906
PANTHER:PTN000344874
PomBase:SPAC2G11.12
SGD:S000004802
TAIR:locus:2197394

P

Seeded From UniProt

complete

involved_in

GO:0000712

resolution of meiotic recombination intermediates

PMID:21873635[26]

ECO:0000318

biological aspect of ancestor evidence used in manual assertion

PANTHER:PTN001009191
WB:WBGene00001865

P

Seeded From UniProt

complete

enables

GO:0000405

bubble DNA binding

PMID:21873635[26]

ECO:0000318

biological aspect of ancestor evidence used in manual assertion

PANTHER:PTN001009191
UniProtKB:P54132

F

Seeded From UniProt

complete

enables

GO:0000403

Y-form DNA binding

PMID:21873635[26]

ECO:0000318

biological aspect of ancestor evidence used in manual assertion

FB:FBgn0002906
PANTHER:PTN001009191
UniProtKB:P54132

F

Seeded From UniProt

complete

enables

GO:0000400

four-way junction DNA binding

PMID:21873635[26]

ECO:0000318

biological aspect of ancestor evidence used in manual assertion

PANTHER:PTN001009191
UniProtKB:P54132

F

Seeded From UniProt

complete

part_of

GO:0000228

nuclear chromosome

PMID:21873635[26]

ECO:0000318

biological aspect of ancestor evidence used in manual assertion

PANTHER:PTN001009191
UniProtKB:P54132

C

Seeded From UniProt

complete

involved_in

GO:0000079

regulation of cyclin-dependent protein serine/threonine kinase activity

PMID:21873635[26]

ECO:0000318

biological aspect of ancestor evidence used in manual assertion

PANTHER:PTN001009191
UniProtKB:P54132

P

Seeded From UniProt

complete

part_of

GO:0005829

cytosol

GO_REF:0000052

ECO:0000314

direct assay evidence used in manual assertion

C

Seeded From UniProt

complete

part_of

GO:0005634

nucleus

GO_REF:0000052

ECO:0000314

direct assay evidence used in manual assertion

C

Seeded From UniProt

complete

involved_in

GO:0000733

DNA strand renaturation

GO_REF:0000108

ECO:0000364

evidence based on logical inference from manual annotation used in automatic assertion

GO:0036310

P

Seeded From UniProt

complete

involved_in

GO:0000733

DNA strand renaturation

GO_REF:0000108

ECO:0000364

evidence based on logical inference from manual annotation used in automatic assertion

GO:0036310

P

Seeded From UniProt

complete

enables

GO:0000166

nucleotide binding

GO_REF:0000002

ECO:0000256

match to sequence model evidence used in automatic assertion

InterPro:IPR010997

F

Seeded From UniProt

complete

enables

GO:0003676

nucleic acid binding

GO_REF:0000002

ECO:0000256

match to sequence model evidence used in automatic assertion

InterPro:IPR002121
InterPro:IPR011545

F

Seeded From UniProt

complete

enables

GO:0003677

DNA binding

GO_REF:0000002

ECO:0000256

match to sequence model evidence used in automatic assertion

InterPro:IPR012532

F

Seeded From UniProt

complete

enables

GO:0003824

catalytic activity

GO_REF:0000002

ECO:0000256

match to sequence model evidence used in automatic assertion

InterPro:IPR010997

F

Seeded From UniProt

complete

enables

GO:0005524

ATP binding

GO_REF:0000002

ECO:0000256

match to sequence model evidence used in automatic assertion

InterPro:IPR011545
InterPro:IPR012532

F

Seeded From UniProt

complete

part_of

GO:0005634

nucleus

GO_REF:0000002

ECO:0000256

match to sequence model evidence used in automatic assertion

InterPro:IPR012532

C

Seeded From UniProt

complete

involved_in

GO:0006260

DNA replication

GO_REF:0000002

ECO:0000256

match to sequence model evidence used in automatic assertion

InterPro:IPR012532
InterPro:IPR018982

P

Seeded From UniProt

complete

involved_in

GO:0006281

DNA repair

GO_REF:0000002

ECO:0000256

match to sequence model evidence used in automatic assertion

InterPro:IPR018982

P

Seeded From UniProt

complete

involved_in

GO:0006310

DNA recombination

GO_REF:0000002

ECO:0000256

match to sequence model evidence used in automatic assertion

InterPro:IPR004589

P

Seeded From UniProt

complete

enables

GO:0008026

ATP-dependent helicase activity

GO_REF:0000002

ECO:0000256

match to sequence model evidence used in automatic assertion

InterPro:IPR004589

F

Seeded From UniProt

complete

enables

GO:0016818

hydrolase activity, acting on acid anhydrides, in phosphorus-containing anhydrides

GO_REF:0000002

ECO:0000256

match to sequence model evidence used in automatic assertion

InterPro:IPR012532

F

Seeded From UniProt

complete

enables

GO:0043140

ATP-dependent 3'-5' DNA helicase activity

GO_REF:0000002

ECO:0000256

match to sequence model evidence used in automatic assertion

InterPro:IPR018982

F

Seeded From UniProt

complete

involved_in

GO:0044237

cellular metabolic process

GO_REF:0000002

ECO:0000256

match to sequence model evidence used in automatic assertion

InterPro:IPR010997

P

Seeded From UniProt

complete

involved_in

GO:0090656

t-circle formation

PMID:27918544[27]

ECO:0000304

author statement supported by traceable reference used in manual assertion

P

part_of:(GO:0090737)

Seeded From UniProt

complete

involved_in

GO:1901796

regulation of signal transduction by p53 class mediator

Reactome:R-HSA-5633007

ECO:0000304

author statement supported by traceable reference used in manual assertion

P

Seeded From UniProt

complete

involved_in

GO:0006260

DNA replication

Reactome:R-HSA-5684887
Reactome:R-HSA-5684875

ECO:0000304

author statement supported by traceable reference used in manual assertion


P

Seeded From UniProt

complete

part_of

GO:0005654

nucleoplasm

Reactome:R-HSA-6799332
Reactome:R-HSA-5693620
Reactome:R-HSA-5693593
Reactome:R-HSA-5693589
Reactome:R-HSA-5693584
Reactome:R-HSA-5693580
Reactome:R-HSA-5693564
Reactome:R-HSA-5693561
Reactome:R-HSA-5693542
Reactome:R-HSA-5693539
Reactome:R-HSA-5686657
Reactome:R-HSA-5686642
Reactome:R-HSA-5686483
Reactome:R-HSA-5686469
Reactome:R-HSA-5686440
Reactome:R-HSA-5686410
Reactome:R-HSA-5686398
Reactome:R-HSA-5685994
Reactome:R-HSA-5685985
Reactome:R-HSA-5685838
Reactome:R-HSA-5685341
Reactome:R-HSA-5685156
Reactome:R-HSA-5685011
Reactome:R-HSA-5684887
Reactome:R-HSA-5684882
Reactome:R-HSA-5684875
Reactome:R-HSA-4568914

ECO:0000304

author statement supported by traceable reference used in manual assertion



























C

Seeded From UniProt

complete

enables

GO:0004386

helicase activity

GO_REF:0000037

ECO:0000322

imported manually asserted information used in automatic assertion

UniProtKB-KW:KW-0347

F

Seeded From UniProt

complete

enables

GO:0046872

metal ion binding

GO_REF:0000037

ECO:0000322

imported manually asserted information used in automatic assertion

UniProtKB-KW:KW-0479

F

Seeded From UniProt

complete

enables

GO:0003677

DNA binding

GO_REF:0000037

ECO:0000322

imported manually asserted information used in automatic assertion

UniProtKB-KW:KW-0238

F

Seeded From UniProt

complete

part_of

GO:0005634

nucleus

GO_REF:0000037
GO_REF:0000039

ECO:0000322

imported manually asserted information used in automatic assertion

UniProtKB-KW:KW-0539
UniProtKB-SubCell:SL-0191

C

Seeded From UniProt

complete

involved_in

GO:0006260

DNA replication

GO_REF:0000037

ECO:0000322

imported manually asserted information used in automatic assertion

UniProtKB-KW:KW-0235

P

Seeded From UniProt

complete

involved_in

GO:0006974

cellular response to DNA damage stimulus

GO_REF:0000037

ECO:0000322

imported manually asserted information used in automatic assertion

UniProtKB-KW:KW-0227

P

Seeded From UniProt

complete

enables

GO:0016787

hydrolase activity

GO_REF:0000037

ECO:0000322

imported manually asserted information used in automatic assertion

UniProtKB-KW:KW-0378

F

Seeded From UniProt

complete

involved_in

GO:0006281

DNA repair

GO_REF:0000037

ECO:0000322

imported manually asserted information used in automatic assertion

UniProtKB-KW:KW-0234

P

Seeded From UniProt

complete

enables

GO:0005524

ATP binding

GO_REF:0000037

ECO:0000322

imported manually asserted information used in automatic assertion

UniProtKB-KW:KW-0067

F

Seeded From UniProt

complete

enables

GO:0000166

nucleotide binding

GO_REF:0000037

ECO:0000322

imported manually asserted information used in automatic assertion

UniProtKB-KW:KW-0547

F

Seeded From UniProt

complete

Notes

References

See Help:References for how to manage references in GONUTS.

  1. 1.0 1.1 1.2 1.3 1.4 1.5 1.6 1.7 1.8 Newman, JA et al. (2015) Crystal structure of the Bloom's syndrome helicase indicates a role for the HRDC domain in conformational changes. Nucleic Acids Res. 43 5221-35 PubMed GONUTS page
  2. 2.0 2.1 2.2 2.3 2.4 2.5 Swan, MK et al. (2014) Structure of human Bloom's syndrome helicase in complex with ADP and duplex DNA. Acta Crystallogr. D Biol. Crystallogr. 70 1465-75 PubMed GONUTS page
  3. 3.0 3.1 3.2 3.3 3.4 Ghosh, A et al. (2009) Telomeric D-loops containing 8-oxo-2'-deoxyguanosine are preferred substrates for Werner and Bloom syndrome helicases and are bound by POT1. J. Biol. Chem. 284 31074-84 PubMed GONUTS page
  4. 4.0 4.1 4.2 Shi, J et al. (2017) A helical bundle in the N-terminal domain of the BLM helicase mediates dimer and potentially hexamer formation. J. Biol. Chem. 292 5909-5920 PubMed GONUTS page
  5. 5.0 5.1 5.2 5.3 5.4 5.5 5.6 5.7 Li, JL et al. (2001) Inhibition of the Bloom's and Werner's syndrome helicases by G-quadruplex interacting ligands. Biochemistry 40 15194-202 PubMed GONUTS page
  6. 6.0 6.1 Kim, YM & Choi, BS (2010) Structure and function of the regulatory HRDC domain from human Bloom syndrome protein. Nucleic Acids Res. 38 7764-77 PubMed GONUTS page
  7. 7.0 7.1 7.2 7.3 7.4 Wan, L et al. (2013) Scaffolding protein SPIDR/KIAA0146 connects the Bloom syndrome helicase with homologous recombination repair. Proc. Natl. Acad. Sci. U.S.A. 110 10646-51 PubMed GONUTS page
  8. 8.0 8.1 8.2 Mohaghegh, P et al. (2001) The Bloom's and Werner's syndrome proteins are DNA structure-specific helicases. Nucleic Acids Res. 29 2843-9 PubMed GONUTS page
  9. 9.0 9.1 9.2 Garkavtsev, IV et al. (2001) The Bloom syndrome protein interacts and cooperates with p53 in regulation of transcription and cell growth control. Oncogene 20 8276-80 PubMed GONUTS page
  10. Karow, JK et al. (1999) Oligomeric ring structure of the Bloom's syndrome helicase. Curr. Biol. 9 597-600 PubMed GONUTS page
  11. 11.0 11.1 11.2 11.3 Yankiwski, V et al. (2000) Nuclear structure in normal and Bloom syndrome cells. Proc. Natl. Acad. Sci. U.S.A. 97 5214-9 PubMed GONUTS page
  12. Yamagata, K et al. (1998) Bloom's and Werner's syndrome genes suppress hyperrecombination in yeast sgs1 mutant: implication for genomic instability in human diseases. Proc. Natl. Acad. Sci. U.S.A. 95 8733-8 PubMed GONUTS page
  13. 13.0 13.1 13.2 13.3 Guo, RB et al. (2007) Structural and functional analyses of disease-causing missense mutations in Bloom syndrome protein. Nucleic Acids Res. 35 6297-310 PubMed GONUTS page
  14. 14.0 14.1 14.2 14.3 Bischof, O et al. (2001) Regulation and localization of the Bloom syndrome protein in response to DNA damage. J. Cell Biol. 153 367-80 PubMed GONUTS page
  15. Machwe, A et al. (2006) The Werner and Bloom syndrome proteins catalyze regression of a model replication fork. Biochemistry 45 13939-46 PubMed GONUTS page
  16. 16.0 16.1 16.2 Johnson, FB et al. (2000) Association of the Bloom syndrome protein with topoisomerase IIIalpha in somatic and meiotic cells. Cancer Res. 60 1162-7 PubMed GONUTS page
  17. 17.0 17.1 17.2 17.3 Janscak, P et al. (2003) Characterization and mutational analysis of the RecQ core of the bloom syndrome protein. J. Mol. Biol. 330 29-42 PubMed GONUTS page
  18. 18.0 18.1 Ellis, NA et al. (1995) The Bloom's syndrome gene product is homologous to RecQ helicases. Cell 83 655-66 PubMed GONUTS page
  19. Kaneko, H et al. (1997) BLM (the causative gene of Bloom syndrome) protein translocation into the nucleus by a nuclear localization signal. Biochem. Biophys. Res. Commun. 240 348-53 PubMed GONUTS page
  20. Suzuki, H et al. (2001) The N-terminal internal region of BLM is required for the formation of dots/rod-like structures which are associated with SUMO-1. Biochem. Biophys. Res. Commun. 286 322-7 PubMed GONUTS page
  21. Opresko, PL et al. (2002) Telomere-binding protein TRF2 binds to and stimulates the Werner and Bloom syndrome helicases. J. Biol. Chem. 277 41110-9 PubMed GONUTS page
  22. Brosh, RM Jr et al. (2000) Potent inhibition of werner and bloom helicases by DNA minor groove binding drugs. Nucleic Acids Res. 28 2420-30 PubMed GONUTS page
  23. 23.0 23.1 Nimonkar, AV et al. (2011) BLM-DNA2-RPA-MRN and EXO1-BLM-RPA-MRN constitute two DNA end resection machineries for human DNA break repair. Genes Dev. 25 350-62 PubMed GONUTS page
  24. Karow, JK et al. (1997) The Bloom's syndrome gene product is a 3'-5' DNA helicase. J. Biol. Chem. 272 30611-4 PubMed GONUTS page
  25. Bayart, E et al. (2004) A major role for mitotic CDC2 kinase inactivation in the establishment of the mitotic DNA damage checkpoint. Cancer Res. 64 8954-9 PubMed GONUTS page
  26. 26.00 26.01 26.02 26.03 26.04 26.05 26.06 26.07 26.08 26.09 26.10 26.11 26.12 26.13 26.14 26.15 26.16 26.17 26.18 26.19 26.20 26.21 26.22 26.23 26.24 26.25 26.26 26.27 26.28 26.29 26.30 26.31 26.32 26.33 26.34 26.35 26.36 26.37 26.38 26.39 26.40 26.41 26.42 26.43 26.44 26.45 26.46 26.47 26.48 26.49 26.50 26.51 26.52 26.53 26.54 26.55 26.56 26.57 26.58 Gaudet, P et al. (2011) Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. Brief. Bioinformatics 12 449-62 PubMed GONUTS page
  27. Rivera, T et al. (2017) A balance between elongation and trimming regulates telomere stability in stem cells. Nat. Struct. Mol. Biol. 24 30-39 PubMed GONUTS page