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Protein

Bloom syndrome protein homolog

Gene

Blm

Organism
Mus musculus (Mouse)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

Participates in DNA replication and repair. Exhibits a magnesium-dependent ATP-dependent DNA-helicase activity that unwinds single- and double-stranded DNA in a 3'-5' direction. Involved in 5'-end resection of DNA during double-strand break (DSB) repair: unwinds DNA and recruits DNA2 which mediates the cleavage of 5'-ssDNA. Negatively regulates sister chromatid exchange (SCE).1 Publication

Catalytic activityi

ATP + H2O = ADP + phosphate.

Regions

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Nucleotide bindingi697 – 7048ATPPROSITE-ProRule annotation

GO - Molecular functioni

  1. annealing helicase activity Source: MGI
  2. ATPase activity Source: MGI
  3. ATP binding Source: MGI
  4. ATP-dependent 3'-5' DNA helicase activity Source: MGI
  5. ATP-dependent DNA helicase activity Source: UniProtKB
  6. ATP-dependent helicase activity Source: MGI
  7. bubble DNA binding Source: MGI
  8. four-way junction helicase activity Source: MGI
  9. G-quadruplex DNA binding Source: MGI
  10. helicase activity Source: MGI
  11. p53 binding Source: MGI
  12. single-stranded DNA binding Source: MGI

GO - Biological processi

  1. alpha-beta T cell differentiation Source: MGI
  2. cellular response to camptothecin Source: UniProtKB
  3. cellular response to DNA damage stimulus Source: UniProtKB
  4. cellular response to hydroxyurea Source: UniProtKB
  5. cellular response to ionizing radiation Source: UniProtKB
  6. chromosome organization Source: MGI
  7. DNA double-strand break processing Source: UniProtKB
  8. DNA duplex unwinding Source: MGI
  9. DNA recombination Source: InterPro
  10. DNA repair Source: MGI
  11. DNA strand renaturation Source: MGI
  12. mitotic G2 DNA damage checkpoint Source: MGI
  13. negative regulation of cell division Source: MGI
  14. negative regulation of DNA recombination Source: MGI
  15. negative regulation of mitotic recombination Source: MGI
  16. negative regulation of thymocyte apoptotic process Source: MGI
  17. positive regulation of alpha-beta T cell proliferation Source: MGI
  18. positive regulation of transcription, DNA-templated Source: MGI
  19. protein oligomerization Source: MGI
  20. regulation of binding Source: MGI
  21. regulation of cyclin-dependent protein serine/threonine kinase activity Source: MGI
  22. replication fork processing Source: MGI
  23. response to X-ray Source: MGI
  24. telomere maintenance Source: MGI
Complete GO annotation...

Keywords - Molecular functioni

Helicase, Hydrolase

Keywords - Biological processi

DNA replication

Keywords - Ligandi

ATP-binding, DNA-binding, Nucleotide-binding

Enzyme and pathway databases

ReactomeiREACT_27235. Meiotic Recombination.
REACT_309945. Meiotic recombination.

Names & Taxonomyi

Protein namesi
Recommended name:
Bloom syndrome protein homolog (EC:3.6.4.12)
Short name:
mBLM
Alternative name(s):
RecQ helicase homolog
Gene namesi
Name:Blm
OrganismiMus musculus (Mouse)
Taxonomic identifieri10090 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresGliresRodentiaSciurognathiMuroideaMuridaeMurinaeMusMus
ProteomesiUP000000589 Componenti: Chromosome 7

Organism-specific databases

MGIiMGI:1328362. Blm.

Subcellular locationi

  1. Nucleus By similarity

  2. Note: Together with SPIDR, is redistributed in discrete nuclear DNA damage-induced foci following hydroxyurea (HU) or camptothecin (CPT) treatment. Accumulated at sites of DNA damage in a RMI complex- and SPIDR-dependent manner (By similarity).By similarity

GO - Cellular componenti

  1. cytoplasm Source: MGI
  2. lateral element Source: MGI
  3. male germ cell nucleus Source: MGI
  4. nuclear chromosome Source: UniProtKB
  5. nuclear matrix Source: MGI
  6. nucleolus Source: MGI
  7. nucleoplasm Source: Reactome
  8. nucleus Source: MGI
  9. PML body Source: MGI
  10. pronucleus Source: MGI
  11. replication fork Source: MGI
Complete GO annotation...

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Mutagenesis

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Mutagenesisi680 – 6801Q → P: Reduced ATPase and helicase activities. 1 Publication
Mutagenesisi703 – 7031K → A: Reduced ATPase and helicase activities. 1 Publication
Mutagenesisi849 – 8491I → T: Reduced ATPase and helicase activities. 1 Publication
Mutagenesisi1063 – 10631C → S: Reduced ATPase and helicase activities. 1 Publication

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 14161416Bloom syndrome protein homologPRO_0000205040Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Modified residuei28 – 281PhosphoserineBy similarity
Modified residuei47 – 471PhosphoserineBy similarity
Modified residuei56 – 561PhosphothreonineBy similarity
Modified residuei114 – 1141PhosphothreonineBy similarity
Modified residuei363 – 3631PhosphoserineBy similarity
Modified residuei431 – 4311PhosphoserineBy similarity
Modified residuei504 – 5041PhosphoserineBy similarity
Modified residuei513 – 5131PhosphothreonineBy similarity
Modified residuei871 – 8711N6-acetyllysineBy similarity
Modified residuei1301 – 13011PhosphoserineBy similarity

Post-translational modificationi

Phosphorylated in response to DNA damage. Phosphorylation requires the FANCA-FANCC-FANCE-FANCF-FANCG protein complex, as well as the presence of RMI1 (By similarity).By similarity

Keywords - PTMi

Acetylation, Phosphoprotein

Proteomic databases

MaxQBiO88700.
PaxDbiO88700.
PRIDEiO88700.

PTM databases

PhosphoSiteiO88700.

Expressioni

Tissue specificityi

Highly expressed in testis 12-14 days after birth (corresponding to the pachytene phase) and at much lower levels in brain, heart, liver, lung, thymus, kidney and spleen.1 Publication

Gene expression databases

BgeeiO88700.
CleanExiMM_BLM.
ExpressionAtlasiO88700. baseline and differential.
GenevestigatoriO88700.

Interactioni

Subunit structurei

Part of the BRCA1-associated genome surveillance complex (BASC), which contains BRCA1, MSH2, MSH6, MLH1, ATM, BLM, PMS2 and the RAD50-MRE11-NBS1 protein complex. This association could be a dynamic process changing throughout the cell cycle and within subnuclear domains. Interacts with ubiquitinated FANCD2. Interacts with RMI complex. Interacts directly with RMI1 (via N-terminal region) component of RMI complex. Interacts with SUPV3L1. Found in a complex, at least composed of BLM, RAD51 and SPIDR; the complex formation is mediated by SPIDR. Interacts with TOP3A (via N-terminal region). Interacts with SPIDR (via C-terminal region); the interaction is direct and required to target BLM to sites of DNA damage (By similarity).By similarity

Protein-protein interaction databases

DIPiDIP-27643N.

Structurei

3D structure databases

ProteinModelPortaliO88700.
SMRiO88700. Positions 648-1299.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini684 – 859176Helicase ATP-bindingPROSITE-ProRule annotationAdd
BLAST
Domaini885 – 1032148Helicase C-terminalPROSITE-ProRule annotationAdd
BLAST
Domaini1217 – 129781HRDCPROSITE-ProRule annotationAdd
BLAST

Motif

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Motifi803 – 8064DEAH box
Motifi1333 – 134816Nuclear localization signalSequence AnalysisAdd
BLAST

Compositional bias

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Compositional biasi219 – 23113Poly-GluAdd
BLAST
Compositional biasi564 – 57411Poly-AspAdd
BLAST
Compositional biasi1312 – 13176Poly-Glu

Sequence similaritiesi

Belongs to the helicase family. RecQ subfamily.Curated
Contains 1 helicase ATP-binding domain.PROSITE-ProRule annotation
Contains 1 helicase C-terminal domain.PROSITE-ProRule annotation
Contains 1 HRDC domain.PROSITE-ProRule annotation

Phylogenomic databases

eggNOGiCOG0514.
GeneTreeiENSGT00550000074520.
HOGENOMiHOG000095239.
HOVERGENiHBG004850.
InParanoidiO88700.
KOiK10901.
PhylomeDBiO88700.

Family and domain databases

Gene3Di1.10.10.10. 1 hit.
1.10.150.80. 1 hit.
3.40.50.300. 2 hits.
InterProiIPR012532. BDHCT.
IPR011545. DEAD/DEAH_box_helicase_dom.
IPR002464. DNA/RNA_helicase_DEAH_CS.
IPR004589. DNA_helicase_ATP-dep_RecQ.
IPR014001. Helicase_ATP-bd.
IPR001650. Helicase_C.
IPR010997. HRDC-like.
IPR002121. HRDC_dom.
IPR027417. P-loop_NTPase.
IPR018982. RQC_domain.
IPR011991. WHTH_DNA-bd_dom.
[Graphical view]
PfamiPF08072. BDHCT. 1 hit.
PF00270. DEAD. 1 hit.
PF00271. Helicase_C. 1 hit.
PF00570. HRDC. 1 hit.
PF09382. RQC. 1 hit.
[Graphical view]
SMARTiSM00487. DEXDc. 1 hit.
SM00490. HELICc. 1 hit.
SM00341. HRDC. 1 hit.
SM00956. RQC. 1 hit.
[Graphical view]
SUPFAMiSSF47819. SSF47819. 1 hit.
SSF52540. SSF52540. 3 hits.
TIGRFAMsiTIGR00614. recQ_fam. 1 hit.
PROSITEiPS00690. DEAH_ATP_HELICASE. 1 hit.
PS51192. HELICASE_ATP_BIND_1. 1 hit.
PS51194. HELICASE_CTER. 1 hit.
PS50967. HRDC. 1 hit.
[Graphical view]

Sequencei

Sequence statusi: Complete.

O88700-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MAAVPLNNLQ EQLQRHSARK LNNQPSLSKP KSLGFTFKKK TSEGDVSVTS
60 70 80 90 100
VSVVKTPALS DKDVNVSEAF SFTESPLHKP KQQAKIEGFF KHFPGRQQSK
110 120 130 140 150
GTCSEPSLPA TVQTAQDTLC TTPKTPTAKK LPVAVFKKLE FSSSADSLSD
160 170 180 190 200
WADMDDFDMS ASDAFASLAK NPATRVSTAQ KMKKTKRNFF KPPPRKANAV
210 220 230 240 250
KTDLTPPSPE CLQVDLTKES EEEEEEEEEA EGADCLSRDV ICIDNDSASE
260 270 280 290 300
ELTEKDTQES QSLKAHLGAE RGDSEKKSHE DEAVFHSVQN TEYFEHNDND
310 320 330 340 350
YDIDFVPPSP EEIISTASSS LKCSSMLKDL DDSDKEKGIL STSEELLSKP
360 370 380 390 400
EEMTTHKSDA GTSKDCDAQQ IRIQQQLIHV MEHICKLVDT VPTDELEALN
410 420 430 440 450
CGTELLQQRN IRRKLLAEAG FNGNDVRLLG SLWRHRPDSL DNTVQGDSCP
460 470 480 490 500
VGHPNKELNS PYLLSHSPST EECLPTTTPG KTGFSATPKN LFERPLLNSH
510 520 530 540 550
LQKSFVSSNW AETPRMENRN ESTDFPGSVL TSTTVKAQSK QAASGWNVER
560 570 580 590 600
HGQASYDIDN FNIDDFDDDD DDDDWENIMH NFPASKSSTA TYPPIKEGGP
610 620 630 640 650
VKSLSERISS AKAKFLPVVS TAQNTNLSES IQNCSDKLAQ NLSSKNPKHE
660 670 680 690 700
HFQSLNFPHT KEMMKIFHKK FGLHNFRTNQ LEAINAALLG EDCFILMPTG
710 720 730 740 750
GGKSLCYQLP ACVSPGVTIV ISPLRSLIVD QVQKLTSFDI PATYLTGDKT
760 770 780 790 800
DSEAANIYLQ LSKKDPIIKL LYVTPEKVCA SNRLISTLEN LYERKLLARF
810 820 830 840 850
VIDEAHCVSQ WGHDFRQDYK RMNMLRQKFP SVPVMALTAT ANPRVQKDIL
860 870 880 890 900
TQLKILRPQV FSMSFNRHNL KYYVLPKKPK KVAFDCLEWI RKHHPYDSGI
910 920 930 940 950
IYCLSRRECD TMADTLQREG LAALAYHAGL SDSARDEVQH KWINQDNCQV
960 970 980 990 1000
ICATIAFGMG IDKPDVRFVI HASLPKSMEG YYQESGRAGR DGEISHCVLF
1010 1020 1030 1040 1050
YTYHDVTRLK RLIMMEKDGN YHTKETHVNN LYSMVHYCEN ITECRRIQLL
1060 1070 1080 1090 1100
AYFGEKGFNP DFCKKYPDVS CDNCCKTKDY KTKDVTDDVK NIIRFVQEHS
1110 1120 1130 1140 1150
SSPGTRNIGP AGRFTLNMLV DIFLGSKSAK VKSGIFGKGT TYSRHNAERL
1160 1170 1180 1190 1200
FKKLILDKIL DEDLYINAND QPIAYVMLGT KAHSVLSGHL KVDFMETENS
1210 1220 1230 1240 1250
SSIKKQKALV AKVSQREEVV KKCLGELTEV CKLLGKVFGV HYFNIFNTAT
1260 1270 1280 1290 1300
LKKLAESLSS DPEVLLQIDG VTEDKLEKYG AEVIPVLQKY SEWTVPAEDG
1310 1320 1330 1340 1350
SPGARGAPED TEEEEEEAPV SSHYFANQTR NERKRKKMSA THKPKRRRTS
1360 1370 1380 1390 1400
YGGFRAKGGS TTCRKTTSKS KFYGVTGSRS ASCASQATSS ASRKLGIMAP
1410
PKPVNRTFLR PSYAFS
Length:1,416
Mass (Da):158,366
Last modified:November 1, 1998 - v1
Checksum:i447C8110A775DD42
GO

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti131 – 1311L → P in BAA32001 (PubMed:9655940).Curated
Sequence conflicti229 – 2291E → EE in BAA32001 (PubMed:9655940).Curated
Sequence conflicti535 – 5351V → M in BAA32001 (PubMed:9655940).Curated
Sequence conflicti546 – 5472WN → RT in BAA32001 (PubMed:9655940).Curated
Sequence conflicti574 – 5741Missing in BAA32001 (PubMed:9655940).Curated
Sequence conflicti591 – 5911T → A in BAA32001 (PubMed:9655940).Curated
Sequence conflicti621 – 6211T → N in BAA32001 (PubMed:9655940).Curated
Sequence conflicti1295 – 12951V → L in BAA32001 (PubMed:9655940).Curated

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
Z98263 mRNA. Translation: CAB10933.1.
AB008674 mRNA. Translation: BAA32001.1.
CCDSiCCDS40000.1.
RefSeqiNP_001035992.1. NM_001042527.2.
NP_031576.4. NM_007550.4.
UniGeneiMm.12932.

Genome annotation databases

EnsembliENSMUST00000081314; ENSMUSP00000080062; ENSMUSG00000030528.
GeneIDi12144.
KEGGimmu:12144.
UCSCiuc009iax.2. mouse.

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
Z98263 mRNA. Translation: CAB10933.1.
AB008674 mRNA. Translation: BAA32001.1.
CCDSiCCDS40000.1.
RefSeqiNP_001035992.1. NM_001042527.2.
NP_031576.4. NM_007550.4.
UniGeneiMm.12932.

3D structure databases

ProteinModelPortaliO88700.
SMRiO88700. Positions 648-1299.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

DIPiDIP-27643N.

PTM databases

PhosphoSiteiO88700.

Proteomic databases

MaxQBiO88700.
PaxDbiO88700.
PRIDEiO88700.

Protocols and materials databases

DNASUi12144.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENSMUST00000081314; ENSMUSP00000080062; ENSMUSG00000030528.
GeneIDi12144.
KEGGimmu:12144.
UCSCiuc009iax.2. mouse.

Organism-specific databases

CTDi641.
MGIiMGI:1328362. Blm.

Phylogenomic databases

eggNOGiCOG0514.
GeneTreeiENSGT00550000074520.
HOGENOMiHOG000095239.
HOVERGENiHBG004850.
InParanoidiO88700.
KOiK10901.
PhylomeDBiO88700.

Enzyme and pathway databases

ReactomeiREACT_27235. Meiotic Recombination.
REACT_309945. Meiotic recombination.

Miscellaneous databases

ChiTaRSiBlm. mouse.
NextBioi280473.
PROiO88700.
SOURCEiSearch...

Gene expression databases

BgeeiO88700.
CleanExiMM_BLM.
ExpressionAtlasiO88700. baseline and differential.
GenevestigatoriO88700.

Family and domain databases

Gene3Di1.10.10.10. 1 hit.
1.10.150.80. 1 hit.
3.40.50.300. 2 hits.
InterProiIPR012532. BDHCT.
IPR011545. DEAD/DEAH_box_helicase_dom.
IPR002464. DNA/RNA_helicase_DEAH_CS.
IPR004589. DNA_helicase_ATP-dep_RecQ.
IPR014001. Helicase_ATP-bd.
IPR001650. Helicase_C.
IPR010997. HRDC-like.
IPR002121. HRDC_dom.
IPR027417. P-loop_NTPase.
IPR018982. RQC_domain.
IPR011991. WHTH_DNA-bd_dom.
[Graphical view]
PfamiPF08072. BDHCT. 1 hit.
PF00270. DEAD. 1 hit.
PF00271. Helicase_C. 1 hit.
PF00570. HRDC. 1 hit.
PF09382. RQC. 1 hit.
[Graphical view]
SMARTiSM00487. DEXDc. 1 hit.
SM00490. HELICc. 1 hit.
SM00341. HRDC. 1 hit.
SM00956. RQC. 1 hit.
[Graphical view]
SUPFAMiSSF47819. SSF47819. 1 hit.
SSF52540. SSF52540. 3 hits.
TIGRFAMsiTIGR00614. recQ_fam. 1 hit.
PROSITEiPS00690. DEAH_ATP_HELICASE. 1 hit.
PS51192. HELICASE_ATP_BIND_1. 1 hit.
PS51194. HELICASE_CTER. 1 hit.
PS50967. HRDC. 1 hit.
[Graphical view]
ProtoNetiSearch...

Publicationsi

  1. "Point mutations causing Bloom's syndrome abolish ATPase and DNA helicase activities of the BLM protein."
    Bahr A., de Graeve F., Kedinger C., Chatton B.
    Oncogene 17:2565-2571(1998) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA], FUNCTION, MUTAGENESIS.
  2. "cDNA cloning of mouse BLM gene, the homologue to human Bloom's syndrome gene, which is highly expressed in the testis at the mRNA level."
    Seki T., Wang W.-S., Okumura N., Seki M., Katada T., Enomoto T.
    Biochim. Biophys. Acta 1398:377-381(1998) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA], TISSUE SPECIFICITY.
    Strain: BALB/c.
    Tissue: Brain, Spermatocyte and Testis.

Entry informationi

Entry nameiBLM_MOUSE
AccessioniPrimary (citable) accession number: O88700
Secondary accession number(s): O88198
Entry historyi
Integrated into UniProtKB/Swiss-Prot: December 15, 1998
Last sequence update: November 1, 1998
Last modified: April 1, 2015
This is version 138 of the entry and version 1 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. MGD cross-references
    Mouse Genome Database (MGD) cross-references in UniProtKB/Swiss-Prot
  2. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into Uniref entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.