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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 Evidence Code with/from Aspect Notes Status
GO:0005737

cytoplasm

IDA: Inferred from Direct Assay

C

Source: HPA

Missing: reference

GO:0000800

lateral element

IDA: Inferred from Direct Assay

C

Source: UniProtKB

Missing: reference

GO:0016363

nuclear matrix

IDA: Inferred from Direct Assay

C

Source: UniProtKB

Missing: reference

GO:0005730

nucleolus

IDA: Inferred from Direct Assay

C

Source: UniProtKB

Missing: reference

GO:0016605

PML body

IDA: Inferred from Direct Assay

C

Source: UniProtKB

Missing: reference

GO:0005524

ATP binding

IDA: Inferred from Direct Assay

F

Source: UniProtKB

Missing: reference

GO:0000405

bubble DNA binding

IDA: Inferred from Direct Assay

F

Source: UniProtKB

Missing: reference

GO:0000739

DNA strand annealing activity

IDA: Inferred from Direct Assay

F

Source: UniProtKB

Missing: reference

GO:0009378

four-way junction helicase activity

IDA: Inferred from Direct Assay

F

Source: UniProtKB

Missing: reference

GO:0051880

G-quadruplex DNA binding

IDA: Inferred from Direct Assay

F

Source: UniProtKB

Missing: reference

GO:0002039

p53 binding

IPI: Inferred from Physical Interaction

F

Source: UniProtKB

Missing: with/from, reference

GO:0000724

double-strand break repair via homologous r...

NAS: Non-traceable Author Statement

P

Source: UniProtKB

Missing: reference

GO:0000085

G2 phase of mitotic cell cycle

NAS: Non-traceable Author Statement

P

Source: UniProtKB

Missing: reference

GO:0031572

G2/M transition DNA damage checkpoint

NAS: Non-traceable Author Statement

P

Source: UniProtKB

Missing: reference

GO:0051782

negative regulation of cell division

IMP: Inferred from Mutant Phenotype

P

Source: UniProtKB

Missing: reference

GO:0045941

positive regulation of transcription

IDA: Inferred from Direct Assay

P

Source: UniProtKB

Missing: reference

GO:0051259

protein oligomerization

IDA: Inferred from Direct Assay

P

Source: UniProtKB

Missing: reference

GO:0000079

regulation of cyclin-dependent protein kina...

IMP: Inferred from Mutant Phenotype

P

Source: UniProtKB

Missing: reference

GO:0031297

replication fork processing

IDA: Inferred from Direct Assay

P

Source: UniProtKB

Missing: reference

GO:0048478

replication fork protection

NAS: Non-traceable Author Statement

P

Source: UniProtKB

Missing: reference

GO:0010165

response to X-ray

IDA: Inferred from Direct Assay

P

Source: UniProtKB

Missing: reference

GO:0000079

regulation of cyclin-dependent protein serine/threonine kinase activity

PMID:15604258[1]

IMP: Inferred from Mutant Phenotype

P

Seeded From UniProt

complete

GO:0000166

nucleotide binding

GO_REF:0000002

IEA: Inferred from Electronic Annotation

InterPro:IPR010997

F

Seeded From UniProt

complete

GO:0000166

nucleotide binding

GO_REF:0000037

IEA: Inferred from Electronic Annotation

UniProtKB-KW:KW-0547

F

Seeded From UniProt

complete

GO:0000228

nuclear chromosome

PMID:23509288[2]

IDA: Inferred from Direct Assay

C

Seeded From UniProt

complete

GO:0000405

bubble DNA binding

PMID:11433031[3]

IDA: Inferred from Direct Assay

F

Seeded From UniProt

complete

GO:0000723

telomere maintenance

GO_REF:0000019

IEA: Inferred from Electronic Annotation

Ensembl:ENSMUSP00000127995

P

Seeded From UniProt

complete

GO:0000724

double-strand break repair via homologous recombination

PMID:11309417[4]

NAS: Non-traceable Author Statement

P

Seeded From UniProt

complete

GO:0000729

DNA double-strand break processing

PMID:21325134[5]

IDA: Inferred from Direct Assay

P

Seeded From UniProt

complete

GO:0000733

DNA strand renaturation

PMID:17878217[6]

IDA: Inferred from Direct Assay

P

Seeded From UniProt

complete

GO:0000800

lateral element

PMID:10728666[7]

IDA: Inferred from Direct Assay

C

Seeded From UniProt

complete

GO:0001673

male germ cell nucleus

GO_REF:0000019

IEA: Inferred from Electronic Annotation

Ensembl:ENSMUSP00000127995

C

Seeded From UniProt

complete

GO:0002039

p53 binding

PMID:11781842[8]

IPI: Inferred from Physical Interaction

UniProtKB:P04637

F

Seeded From UniProt

complete

GO:0003676

nucleic acid binding

GO_REF:0000002

IEA: Inferred from Electronic Annotation

InterPro:IPR002121
InterPro:IPR002464
InterPro:IPR011545

F

Seeded From UniProt

complete

GO:0003677

DNA binding

GO_REF:0000002

IEA: Inferred from Electronic Annotation

InterPro:IPR012532

F

Seeded From UniProt

complete

GO:0003677

DNA binding

GO_REF:0000037

IEA: Inferred from Electronic Annotation

UniProtKB-KW:KW-0238

F

Seeded From UniProt

complete

GO:0003697

single-stranded DNA binding

PMID:12818200[9]

IDA: Inferred from Direct Assay

F

Seeded From UniProt

complete

GO:0003824

catalytic activity

GO_REF:0000002

IEA: Inferred from Electronic Annotation

InterPro:IPR010997

F

Seeded From UniProt

complete

GO:0004003

ATP-dependent DNA helicase activity

PMID:21325134[5]

IMP: Inferred from Mutant Phenotype

F

Seeded From UniProt

complete

GO:0004003

ATP-dependent DNA helicase activity

PMID:9388193[10]

IDA: Inferred from Direct Assay

F

Seeded From UniProt

complete

GO:0004386

helicase activity

GO_REF:0000037

IEA: Inferred from Electronic Annotation

UniProtKB-KW:KW-0347

F

Seeded From UniProt

complete

GO:0004386

helicase activity

PMID:10871376[11]

IDA: Inferred from Direct Assay

F

Seeded From UniProt

complete

GO:0004386

helicase activity

PMID:12181313[12]

IDA: Inferred from Direct Assay

F

Seeded From UniProt

complete

GO:0004386

helicase activity

PMID:17878217[6]

IDA: Inferred from Direct Assay

F

Seeded From UniProt

complete

GO:0005515

protein binding

PMID:10728666[7]

IPI: Inferred from Physical Interaction

UniProtKB:Q13472

F

Seeded From UniProt

complete

GO:0005515

protein binding

PMID:10825162[13]

IPI: Inferred from Physical Interaction

UniProtKB:P27694

F

Seeded From UniProt

complete

GO:0005515

protein binding

PMID:11309417[4]

IPI: Inferred from Physical Interaction

UniProtKB:Q06609

F

Seeded From UniProt

complete

GO:0005515

protein binding

PMID:11919194[14]

IPI: Inferred from Physical Interaction

UniProtKB:Q14191

F

Seeded From UniProt

complete

GO:0005515

protein binding

PMID:12181313[12]

IPI: Inferred from Physical Interaction

UniProtKB:Q15554

F

Seeded From UniProt

complete

GO:0005515

protein binding

PMID:12181313[12]

IPI: Inferred from Physical Interaction

UniProtKB:Q15554

F

Seeded From UniProt

complete

GO:0005515

protein binding

PMID:12975363[15]

IPI: Inferred from Physical Interaction

UniProtKB:O75771

F

Seeded From UniProt

complete

GO:0005515

protein binding

PMID:14688284[16]

IPI: Inferred from Physical Interaction

UniProtKB:P39748

F

Seeded From UniProt

complete

GO:0005515

protein binding

PMID:15229185[17]

IPI: Inferred from Physical Interaction

UniProtKB:P54274

F

Seeded From UniProt

complete

GO:0005515

protein binding

PMID:15229185[17]

IPI: Inferred from Physical Interaction

UniProtKB:Q15554

F

Seeded From UniProt

complete

GO:0005515

protein binding

PMID:15775963[18]

IPI: Inferred from Physical Interaction

UniProtKB:P27694

F

Seeded From UniProt

complete

GO:0005515

protein binding

PMID:15775963[18]

IPI: Inferred from Physical Interaction

UniProtKB:Q9H9A7

F

Seeded From UniProt

complete

GO:0005515

protein binding

PMID:15965237[19]

IPI: Inferred from Physical Interaction

UniProtKB:P27694

F

Seeded From UniProt

complete

GO:0005515

protein binding

PMID:16030011[20]

IPI: Inferred from Physical Interaction

UniProtKB:Q9NUX5

F

Seeded From UniProt

complete

GO:0005515

protein binding

PMID:17961633[21]

IPI: Inferred from Physical Interaction

UniProtKB:Q8IYB8

F

Seeded From UniProt

complete

GO:0005515

protein binding

PMID:20360068[22]

IPI: Inferred from Physical Interaction

UniProtKB:Q9H9A7

F

Seeded From UniProt

complete

GO:0005515

protein binding

PMID:20711169[23]

IPI: Inferred from Physical Interaction

UniProtKB:Q9H9A7

F

Seeded From UniProt

complete

GO:0043140

ATP-dependent 3'-5' DNA helicase activity

GO_REF:0000002

IEA: Inferred from Electronic Annotation

InterPro:IPR018982

F

complete

GO:0005515

protein binding

PMID:21240188[24]

IPI: Inferred from Physical Interaction

UniProtKB:Q9BX63

F

Seeded From UniProt

complete

GO:0043140

ATP-dependent 3'-5' DNA helicase activity

GO_REF:0000019

IEA: Inferred from Electronic Annotation

Ensembl:ENSMUSP00000127995

F

complete

GO:0005515

protein binding

PMID:21325134[5]

IPI: Inferred from Physical Interaction

UniProtKB:P51530

F

Seeded From UniProt

complete

GO:0044237

cellular metabolic process

GO_REF:0000002

IEA: Inferred from Electronic Annotation

InterPro:IPR010997

P

complete

GO:0005515

protein binding

PMID:23509288[2]

IPI: Inferred from Physical Interaction

UniProtKB:Q13472

F

Seeded From UniProt

complete

GO:0045120

pronucleus

GO_REF:0000019

IEA: Inferred from Electronic Annotation

Ensembl:ENSMUSP00000127995

C

complete

GO:0005515

protein binding

PMID:23509288[2]

IPI: Inferred from Physical Interaction

UniProtKB:Q14159

F

Seeded From UniProt

complete

GO:0045893

positive regulation of transcription, DNA-dependent

PMID:11781842[8]

IDA: Inferred from Direct Assay

P

complete

GO:0005515

protein binding

PMID:23509288[2]

IPI: Inferred from Physical Interaction

UniProtKB:Q9H9A7

F

Seeded From UniProt

complete

GO:0045910

negative regulation of DNA recombination

PMID:9671747[25]

IMP: Inferred from Mutant Phenotype

P

complete

GO:0005515

protein binding

PMID:23708797[26]

IPI: Inferred from Physical Interaction

UniProtKB:Q96RL1

F

Seeded From UniProt

complete

GO:0045950

negative regulation of mitotic recombination

GO_REF:0000019

IEA: Inferred from Electronic Annotation

Ensembl:ENSMUSP00000127995

P

complete

GO:0005515

protein binding

PMID:24126761[27]

IPI: Inferred from Physical Interaction

UniProtKB:P27694

F

Seeded From UniProt

complete

GO:0046632

alpha-beta T cell differentiation

GO_REF:0000019

IEA: Inferred from Electronic Annotation

Ensembl:ENSMUSP00000127995

P

complete

GO:0005524

ATP binding

GO_REF:0000002

IEA: Inferred from Electronic Annotation

InterPro:IPR002464
InterPro:IPR011545
InterPro:IPR012532

F

Seeded From UniProt

complete

GO:0046641

positive regulation of alpha-beta T cell proliferation

GO_REF:0000019

IEA: Inferred from Electronic Annotation

Ensembl:ENSMUSP00000127995

P

complete

GO:0005524

ATP binding

GO_REF:0000037

IEA: Inferred from Electronic Annotation

UniProtKB-KW:KW-0067

F

Seeded From UniProt

complete

GO:0048478

replication fork protection

PMID:10779560[28]

NAS: Non-traceable Author Statement

P

complete

GO:0005524

ATP binding

PMID:17878217[6]

IDA: Inferred from Direct Assay

F

Seeded From UniProt

complete

GO:0051098

regulation of binding

GO_REF:0000019

IEA: Inferred from Electronic Annotation

Ensembl:ENSMUSP00000127995

P

complete

GO:0005622

intracellular

GO_REF:0000002

IEA: Inferred from Electronic Annotation

InterPro:IPR002121

C

Seeded From UniProt

complete

GO:0051259

protein oligomerization

PMID:10359700[29]

IDA: Inferred from Direct Assay

P

complete

GO:0005634

nucleus

GO_REF:0000002

IEA: Inferred from Electronic Annotation

InterPro:IPR012532

C

Seeded From UniProt

complete

GO:0051276

chromosome organization

GO_REF:0000019

IEA: Inferred from Electronic Annotation

Ensembl:ENSMUSP00000127995

P

complete

GO:0005634

nucleus

GO_REF:0000037

IEA: Inferred from Electronic Annotation

UniProtKB-KW:KW-0539

C

Seeded From UniProt

complete

GO:0051782

negative regulation of cell division

PMID:11781842[8]

IMP: Inferred from Mutant Phenotype

P

complete

GO:0005634

nucleus

GO_REF:0000039

IEA: Inferred from Electronic Annotation

UniProtKB-SubCell:SL-0191

C

Seeded From UniProt

complete

GO:0051880

G-quadruplex DNA binding

PMID:11433031[3]

IDA: Inferred from Direct Assay

F

complete

GO:0005634

nucleus

GO_REF:0000052

IDA: Inferred from Direct Assay

C

Seeded From UniProt

complete

colocalizes_with

GO:0000781

chromosome, telomeric region

PMID:10779560[28]

IDA: Inferred from Direct Assay

C

complete

GO:0005634

nucleus

PMID:11500040[30]

IDA: Inferred from Direct Assay

C

Seeded From UniProt

complete

colocalizes_with

GO:0016605

PML body

PMID:10779560[28]

IDA: Inferred from Direct Assay

C

complete

GO:0005634

nucleus

PMID:9388480[31]

IDA: Inferred from Direct Assay

C

Seeded From UniProt

complete

GO:0005654

nucleoplasm

Reactome:REACT_355219

TAS: Traceable Author Statement

C

Seeded From UniProt

complete

GO:0005657

replication fork

GO_REF:0000019

IEA: Inferred from Electronic Annotation

Ensembl:ENSMUSP00000127995

C

Seeded From UniProt

complete

GO:0005730

nucleolus

PMID:10779560[28]

IDA: Inferred from Direct Assay

C

Seeded From UniProt

complete

GO:0005737

cytoplasm

GO_REF:0000052

IDA: Inferred from Direct Assay

C

Seeded From UniProt

complete

GO:0006260

DNA replication

GO_REF:0000002

IEA: Inferred from Electronic Annotation

InterPro:IPR012532
InterPro:IPR018982

P

Seeded From UniProt

complete

GO:0006260

DNA replication

GO_REF:0000037

IEA: Inferred from Electronic Annotation

UniProtKB-KW:KW-0235

P

Seeded From UniProt

complete

GO:0006281

DNA repair

GO_REF:0000002

IEA: Inferred from Electronic Annotation

InterPro:IPR018982

P

Seeded From UniProt

complete

GO:0006281

DNA repair

GO_REF:0000019

IEA: Inferred from Electronic Annotation

Ensembl:ENSMUSP00000127995

P

Seeded From UniProt

complete

GO:0006281

DNA repair

PMID:7585968[32]

NAS: Non-traceable Author Statement

P

Seeded From UniProt

complete

GO:0006310

DNA recombination

GO_REF:0000002

IEA: Inferred from Electronic Annotation

InterPro:IPR004589

P

Seeded From UniProt

complete

GO:0006310

DNA recombination

PMID:10728666[7]

NAS: Non-traceable Author Statement

P

Seeded From UniProt

complete

GO:0006310

DNA recombination

PMID:7585968[32]

NAS: Non-traceable Author Statement

P

Seeded From UniProt

complete

GO:0006974

cellular response to DNA damage stimulus

PMID:12818200[9]

IMP: Inferred from Mutant Phenotype

P

Seeded From UniProt

complete

GO:0006974

cellular response to DNA damage stimulus

PMID:23509288[2]

IDA: Inferred from Direct Assay

P

Seeded From UniProt

complete

GO:0007095

mitotic G2 DNA damage checkpoint

PMID:11309417[4]

IDA: Inferred from Direct Assay

P

Seeded From UniProt

complete

GO:0008026

ATP-dependent helicase activity

GO_REF:0000002

IEA: Inferred from Electronic Annotation

InterPro:IPR002464
InterPro:IPR004589

F

Seeded From UniProt

complete

GO:0008026

ATP-dependent helicase activity

PMID:12818200[9]

IDA: Inferred from Direct Assay

F

Seeded From UniProt

complete

GO:0009378

four-way junction helicase activity

PMID:11433031[3]

IDA: Inferred from Direct Assay

F

Seeded From UniProt

complete

GO:0009378

four-way junction helicase activity

PMID:12818200[9]

IDA: Inferred from Direct Assay

F

Seeded From UniProt

complete

GO:0010165

response to X-ray

PMID:11309417[4]

IDA: Inferred from Direct Assay

P

Seeded From UniProt

complete

GO:0016363

nuclear matrix

PMID:11309417[4]

IDA: Inferred from Direct Assay

C

Seeded From UniProt

complete

GO:0016605

PML body

PMID:10728666[7]

IDA: Inferred from Direct Assay

C

Seeded From UniProt

complete

GO:0016787

hydrolase activity

GO_REF:0000037

IEA: Inferred from Electronic Annotation

UniProtKB-KW:KW-0378

F

Seeded From UniProt

complete

GO:0016818

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

GO_REF:0000002

IEA: Inferred from Electronic Annotation

InterPro:IPR012532

F

Seeded From UniProt

complete

GO:0016887

ATPase activity

PMID:17878217[6]

IDA: Inferred from Direct Assay

F

Seeded From UniProt

complete

GO:0016925

protein sumoylation

Reactome:REACT_163823

TAS: Traceable Author Statement

P

Seeded From UniProt

complete

GO:0016925

protein sumoylation

Reactome:REACT_355174

TAS: Traceable Author Statement

P

Seeded From UniProt

complete

GO:0016925

protein sumoylation

Reactome:REACT_355247

TAS: Traceable Author Statement

P

Seeded From UniProt

complete

GO:0031297

replication fork processing

PMID:17115688[33]

IDA: Inferred from Direct Assay

P

Seeded From UniProt

complete

GO:0032508

DNA duplex unwinding

GO_REF:0000002

IEA: Inferred from Electronic Annotation

InterPro:IPR018982

P

Seeded From UniProt

complete

GO:0032508

DNA duplex unwinding

GO_REF:0000019

IEA: Inferred from Electronic Annotation

Ensembl:ENSMUSP00000127995

P

Seeded From UniProt

complete

GO:0032508

DNA duplex unwinding

PMID:11433031[3]

IDA: Inferred from Direct Assay

P

Seeded From UniProt

complete

GO:0032508

DNA duplex unwinding

PMID:12818200[9]

IDA: Inferred from Direct Assay

P

Seeded From UniProt

complete

GO:0032508

DNA duplex unwinding

PMID:21325134[5]

IMP: Inferred from Mutant Phenotype

P

Seeded From UniProt

complete

GO:0032508

DNA duplex unwinding

PMID:9388193[10]

IDA: Inferred from Direct Assay

P

Seeded From UniProt

complete

GO:0036310

annealing helicase activity

PMID:17878217[6]

IDA: Inferred from Direct Assay

F

Seeded From UniProt

complete

GO:0043140

ATP-dependent 3'-5' DNA helicase activity

GO_REF:0000002

IEA: Inferred from Electronic Annotation

InterPro:IPR018982

F

Seeded From UniProt

complete

GO:0043140

ATP-dependent 3'-5' DNA helicase activity

GO_REF:0000019

IEA: Inferred from Electronic Annotation

Ensembl:ENSMUSP00000127995

F

Seeded From UniProt

complete

GO:0043687

post-translational protein modification

Reactome:REACT_22161

TAS: Traceable Author Statement

P

Seeded From UniProt

complete

GO:0044237

cellular metabolic process

GO_REF:0000002

IEA: Inferred from Electronic Annotation

InterPro:IPR010997

P

Seeded From UniProt

complete

GO:0044267

cellular protein metabolic process

Reactome:REACT_17015

TAS: Traceable Author Statement

P

Seeded From UniProt

complete

GO:0045120

pronucleus

GO_REF:0000019

IEA: Inferred from Electronic Annotation

Ensembl:ENSMUSP00000127995

C

Seeded From UniProt

complete

GO:0045893

positive regulation of transcription, DNA-templated

PMID:11781842[8]

IDA: Inferred from Direct Assay

P

Seeded From UniProt

complete

GO:0045910

negative regulation of DNA recombination

PMID:9671747[25]

IMP: Inferred from Mutant Phenotype

P

Seeded From UniProt

complete

GO:0045950

negative regulation of mitotic recombination

GO_REF:0000019

IEA: Inferred from Electronic Annotation

Ensembl:ENSMUSP00000127995

P

Seeded From UniProt

complete

GO:0046632

alpha-beta T cell differentiation

GO_REF:0000019

IEA: Inferred from Electronic Annotation

Ensembl:ENSMUSP00000127995

P

Seeded From UniProt

complete

GO:0046641

positive regulation of alpha-beta T cell proliferation

GO_REF:0000019

IEA: Inferred from Electronic Annotation

Ensembl:ENSMUSP00000127995

P

Seeded From UniProt

complete

GO:0048478

replication fork protection

PMID:10779560[28]

NAS: Non-traceable Author Statement

P

Seeded From UniProt

complete

GO:0051098

regulation of binding

GO_REF:0000019

IEA: Inferred from Electronic Annotation

Ensembl:ENSMUSP00000127995

P

Seeded From UniProt

complete

GO:0051259

protein oligomerization

PMID:10359700[29]

IDA: Inferred from Direct Assay

P

Seeded From UniProt

complete

GO:0051276

chromosome organization

GO_REF:0000019

IEA: Inferred from Electronic Annotation

Ensembl:ENSMUSP00000127995

P

Seeded From UniProt

complete

GO:0051782

negative regulation of cell division

PMID:11781842[8]

IMP: Inferred from Mutant Phenotype

P

Seeded From UniProt

complete

GO:0051880

G-quadruplex DNA binding

PMID:11433031[3]

IDA: Inferred from Direct Assay

F

Seeded From UniProt

complete

GO:0070244

negative regulation of thymocyte apoptotic process

GO_REF:0000019

IEA: Inferred from Electronic Annotation

Ensembl:ENSMUSP00000127995

P

Seeded From UniProt

complete

GO:0071479

cellular response to ionizing radiation

PMID:23509288[2]

IDA: Inferred from Direct Assay

P

Seeded From UniProt

complete

GO:0072711

cellular response to hydroxyurea

PMID:23509288[2]

IDA: Inferred from Direct Assay

P

Seeded From UniProt

complete

GO:0072757

cellular response to camptothecin

PMID:23509288[2]

IDA: Inferred from Direct Assay

P

Seeded From UniProt

complete

colocalizes_with

GO:0000781

chromosome, telomeric region

PMID:10779560[28]

IDA: Inferred from Direct Assay

C

Seeded From UniProt

complete

colocalizes_with

GO:0016605

PML body

PMID:10779560[28]

IDA: Inferred from Direct Assay

C

Seeded From UniProt

complete

Notes

References

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

  1. 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
  2. 2.0 2.1 2.2 2.3 2.4 2.5 2.6 2.7 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
  3. 3.0 3.1 3.2 3.3 3.4 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
  4. 4.0 4.1 4.2 4.3 4.4 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
  5. 5.0 5.1 5.2 5.3 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
  6. 6.0 6.1 6.2 6.3 6.4 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
  7. 7.0 7.1 7.2 7.3 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
  8. 8.0 8.1 8.2 8.3 8.4 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
  9. 9.0 9.1 9.2 9.3 9.4 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
  10. 10.0 10.1 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
  11. 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
  12. 12.0 12.1 12.2 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
  13. Brosh, RM Jr et al. (2000) Replication protein A physically interacts with the Bloom's syndrome protein and stimulates its helicase activity. J. Biol. Chem. 275 23500-8 PubMed GONUTS page
  14. von Kobbe, C et al. (2002) Colocalization, physical, and functional interaction between Werner and Bloom syndrome proteins. J. Biol. Chem. 277 22035-44 PubMed GONUTS page
  15. Braybrooke, JP et al. (2003) Functional interaction between the Bloom's syndrome helicase and the RAD51 paralog, RAD51L3 (RAD51D). J. Biol. Chem. 278 48357-66 PubMed GONUTS page
  16. Sharma, S et al. (2004) Stimulation of flap endonuclease-1 by the Bloom's syndrome protein. J. Biol. Chem. 279 9847-56 PubMed GONUTS page
  17. 17.0 17.1 Lillard-Wetherell, K et al. (2004) Association and regulation of the BLM helicase by the telomere proteins TRF1 and TRF2. Hum. Mol. Genet. 13 1919-32 PubMed GONUTS page
  18. 18.0 18.1 Yin, J et al. (2005) BLAP75, an essential component of Bloom's syndrome protein complexes that maintain genome integrity. EMBO J. 24 1465-76 PubMed GONUTS page
  19. Doherty, KM et al. (2005) Physical and functional mapping of the replication protein a interaction domain of the werner and bloom syndrome helicases. J. Biol. Chem. 280 29494-505 PubMed GONUTS page
  20. Opresko, PL et al. (2005) POT1 stimulates RecQ helicases WRN and BLM to unwind telomeric DNA substrates. J. Biol. Chem. 280 32069-80 PubMed GONUTS page
  21. Pereira, M et al. () Interaction of human SUV3 RNA/DNA helicase with BLM helicase; loss of the SUV3 gene results in mouse embryonic lethality. Mech. Ageing Dev. 128 609-17 PubMed GONUTS page
  22. Hutchins, JR et al. (2010) Systematic analysis of human protein complexes identifies chromosome segregation proteins. Science 328 593-9 PubMed GONUTS page
  23. Xu, D et al. (2010) Rif1 provides a new DNA-binding interface for the Bloom syndrome complex to maintain normal replication. EMBO J. 29 3140-55 PubMed GONUTS page
  24. Suhasini, AN et al. (2011) Interaction between the helicases genetically linked to Fanconi anemia group J and Bloom's syndrome. EMBO J. 30 692-705 PubMed GONUTS page
  25. 25.0 25.1 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
  26. Tikoo, S et al. (2013) Ubiquitin-dependent recruitment of the Bloom syndrome helicase upon replication stress is required to suppress homologous recombination. EMBO J. 32 1778-92 PubMed GONUTS page
  27. Wan, L et al. (2013) hPrimpol1/CCDC111 is a human DNA primase-polymerase required for the maintenance of genome integrity. EMBO Rep. 14 1104-12 PubMed GONUTS page
  28. 28.0 28.1 28.2 28.3 28.4 28.5 28.6 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
  29. 29.0 29.1 Karow, JK et al. (1999) Oligomeric ring structure of the Bloom's syndrome helicase. Curr. Biol. 9 597-600 PubMed GONUTS page
  30. 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
  31. 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
  32. 32.0 32.1 Ellis, NA et al. (1995) The Bloom's syndrome gene product is homologous to RecQ helicases. Cell 83 655-66 PubMed GONUTS page
  33. 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