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O88700

- BLM_MOUSE

UniProt

O88700 - BLM_MOUSE

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Protein
Bloom syndrome protein homolog
Gene
Blm
Organism
Mus musculus (Mouse)
Status
Reviewed - 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 – 7048ATP By similarity

GO - Molecular functioni

  1. ATP binding Source: UniProtKB-KW
  2. ATP-dependent 3'-5' DNA helicase activity Source: MGI
  3. ATP-dependent DNA helicase activity Source: UniProtKB
  4. DNA binding Source: UniProtKB-KW
  5. protein binding Source: MGI
Complete GO annotation...

GO - Biological processi

  1. DNA double-strand break processing Source: UniProtKB
  2. DNA duplex unwinding Source: GOC
  3. DNA recombination Source: InterPro
  4. DNA repair Source: MGI
  5. DNA replication Source: UniProtKB-KW
  6. alpha-beta T cell differentiation Source: MGI
  7. cellular response to DNA damage stimulus Source: UniProtKB
  8. cellular response to camptothecin Source: UniProtKB
  9. cellular response to hydroxyurea Source: UniProtKB
  10. cellular response to ionizing radiation Source: UniProtKB
  11. chromosome organization Source: MGI
  12. negative regulation of mitotic recombination Source: MGI
  13. negative regulation of thymocyte apoptotic process Source: MGI
  14. positive regulation of alpha-beta T cell proliferation Source: MGI
  15. regulation of binding Source: MGI
  16. 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_198629. Meiotic recombination.
REACT_27235. 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: Chromosome 7

Organism-specific databases

MGIiMGI:1328362. Blm.

Subcellular locationi

Nucleus By similarity
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.

GO - Cellular componenti

  1. cytoplasm Source: MGI
  2. male germ cell nucleus Source: MGI
  3. nuclear chromosome Source: UniProtKB
  4. nucleoplasm Source: Reactome
  5. pronucleus Source: MGI
  6. 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.
Mutagenesisi703 – 7031K → A: Reduced ATPase and helicase activities.
Mutagenesisi849 – 8491I → T: Reduced ATPase and helicase activities.
Mutagenesisi1063 – 10631C → S: Reduced ATPase and helicase activities.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 14161416Bloom syndrome protein homolog
PRO_0000205040Add
BLAST

Amino acid modifications

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

Keywords - PTMi

Acetylation, Phosphoprotein

Proteomic databases

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

ArrayExpressiO88700.
BgeeiO88700.
CleanExiMM_BLM.
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.

Protein-protein interaction databases

DIPiDIP-27643N.

Structurei

3D structure databases

ProteinModelPortaliO88700.
SMRiO88700. Positions 648-1299.

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini684 – 859176Helicase ATP-binding
Add
BLAST
Domaini885 – 1032148Helicase C-terminal
Add
BLAST
Domaini1217 – 129781HRDC
Add
BLAST

Motif

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Motifi803 – 8064DEAH box
Motifi1333 – 134816Nuclear localization signal Reviewed prediction
Add
BLAST

Compositional bias

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

Sequence similaritiesi

Contains 1 HRDC domain.

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. DNA/RNA_helicase_DEAD/DEAH_N.
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

MAAVPLNNLQ EQLQRHSARK LNNQPSLSKP KSLGFTFKKK TSEGDVSVTS     50
VSVVKTPALS DKDVNVSEAF SFTESPLHKP KQQAKIEGFF KHFPGRQQSK 100
GTCSEPSLPA TVQTAQDTLC TTPKTPTAKK LPVAVFKKLE FSSSADSLSD 150
WADMDDFDMS ASDAFASLAK NPATRVSTAQ KMKKTKRNFF KPPPRKANAV 200
KTDLTPPSPE CLQVDLTKES EEEEEEEEEA EGADCLSRDV ICIDNDSASE 250
ELTEKDTQES QSLKAHLGAE RGDSEKKSHE DEAVFHSVQN TEYFEHNDND 300
YDIDFVPPSP EEIISTASSS LKCSSMLKDL DDSDKEKGIL STSEELLSKP 350
EEMTTHKSDA GTSKDCDAQQ IRIQQQLIHV MEHICKLVDT VPTDELEALN 400
CGTELLQQRN IRRKLLAEAG FNGNDVRLLG SLWRHRPDSL DNTVQGDSCP 450
VGHPNKELNS PYLLSHSPST EECLPTTTPG KTGFSATPKN LFERPLLNSH 500
LQKSFVSSNW AETPRMENRN ESTDFPGSVL TSTTVKAQSK QAASGWNVER 550
HGQASYDIDN FNIDDFDDDD DDDDWENIMH NFPASKSSTA TYPPIKEGGP 600
VKSLSERISS AKAKFLPVVS TAQNTNLSES IQNCSDKLAQ NLSSKNPKHE 650
HFQSLNFPHT KEMMKIFHKK FGLHNFRTNQ LEAINAALLG EDCFILMPTG 700
GGKSLCYQLP ACVSPGVTIV ISPLRSLIVD QVQKLTSFDI PATYLTGDKT 750
DSEAANIYLQ LSKKDPIIKL LYVTPEKVCA SNRLISTLEN LYERKLLARF 800
VIDEAHCVSQ WGHDFRQDYK RMNMLRQKFP SVPVMALTAT ANPRVQKDIL 850
TQLKILRPQV FSMSFNRHNL KYYVLPKKPK KVAFDCLEWI RKHHPYDSGI 900
IYCLSRRECD TMADTLQREG LAALAYHAGL SDSARDEVQH KWINQDNCQV 950
ICATIAFGMG IDKPDVRFVI HASLPKSMEG YYQESGRAGR DGEISHCVLF 1000
YTYHDVTRLK RLIMMEKDGN YHTKETHVNN LYSMVHYCEN ITECRRIQLL 1050
AYFGEKGFNP DFCKKYPDVS CDNCCKTKDY KTKDVTDDVK NIIRFVQEHS 1100
SSPGTRNIGP AGRFTLNMLV DIFLGSKSAK VKSGIFGKGT TYSRHNAERL 1150
FKKLILDKIL DEDLYINAND QPIAYVMLGT KAHSVLSGHL KVDFMETENS 1200
SSIKKQKALV AKVSQREEVV KKCLGELTEV CKLLGKVFGV HYFNIFNTAT 1250
LKKLAESLSS DPEVLLQIDG VTEDKLEKYG AEVIPVLQKY SEWTVPAEDG 1300
SPGARGAPED TEEEEEEAPV SSHYFANQTR NERKRKKMSA THKPKRRRTS 1350
YGGFRAKGGS TTCRKTTSKS KFYGVTGSRS ASCASQATSS ASRKLGIMAP 1400
PKPVNRTFLR PSYAFS 1416
Length:1,416
Mass (Da):158,366
Last modified:November 1, 1998 - v1
Checksum:i447C8110A775DD42
GO

Sequence conflict

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti131 – 1311L → P in BAA32001. 1 Publication
Sequence conflicti229 – 2291E → EE in BAA32001. 1 Publication
Sequence conflicti535 – 5351V → M in BAA32001. 1 Publication
Sequence conflicti546 – 5472WN → RT in BAA32001. 1 Publication
Sequence conflicti574 – 5741Missing in BAA32001. 1 Publication
Sequence conflicti591 – 5911T → A in BAA32001. 1 Publication
Sequence conflicti621 – 6211T → N in BAA32001. 1 Publication
Sequence conflicti1295 – 12951V → L in BAA32001. 1 Publication

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
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:
EMBL
GenBank
DDBJ
Links Updated
Z98263 mRNA. Translation: CAB10933.1 .
AB008674 mRNA. Translation: BAA32001.1 .
CCDSi CCDS40000.1.
RefSeqi NP_001035992.1. NM_001042527.2.
NP_031576.4. NM_007550.4.
UniGenei Mm.12932.

3D structure databases

ProteinModelPortali O88700.
SMRi O88700. Positions 648-1299.
ModBasei Search...

Protein-protein interaction databases

DIPi DIP-27643N.

PTM databases

PhosphoSitei O88700.

Proteomic databases

PaxDbi O88700.
PRIDEi O88700.

Protocols and materials databases

DNASUi 12144.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENSMUST00000081314 ; ENSMUSP00000080062 ; ENSMUSG00000030528 .
GeneIDi 12144.
KEGGi mmu:12144.
UCSCi uc009iax.2. mouse.

Organism-specific databases

CTDi 641.
MGIi MGI:1328362. Blm.

Phylogenomic databases

eggNOGi COG0514.
GeneTreei ENSGT00550000074520.
HOGENOMi HOG000095239.
HOVERGENi HBG004850.
InParanoidi O88700.
KOi K10901.
PhylomeDBi O88700.

Enzyme and pathway databases

Reactomei REACT_198629. Meiotic recombination.
REACT_27235. Meiotic Recombination.

Miscellaneous databases

ChiTaRSi BLM. mouse.
NextBioi 280473.
PROi O88700.
SOURCEi Search...

Gene expression databases

ArrayExpressi O88700.
Bgeei O88700.
CleanExi MM_BLM.
Genevestigatori O88700.

Family and domain databases

Gene3Di 1.10.10.10. 1 hit.
1.10.150.80. 1 hit.
3.40.50.300. 2 hits.
InterProi IPR012532. BDHCT.
IPR011545. DNA/RNA_helicase_DEAD/DEAH_N.
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 ]
Pfami PF08072. BDHCT. 1 hit.
PF00270. DEAD. 1 hit.
PF00271. Helicase_C. 1 hit.
PF00570. HRDC. 1 hit.
PF09382. RQC. 1 hit.
[Graphical view ]
SMARTi SM00487. DEXDc. 1 hit.
SM00490. HELICc. 1 hit.
SM00341. HRDC. 1 hit.
SM00956. RQC. 1 hit.
[Graphical view ]
SUPFAMi SSF47819. SSF47819. 1 hit.
SSF52540. SSF52540. 3 hits.
TIGRFAMsi TIGR00614. recQ_fam. 1 hit.
PROSITEi PS00690. DEAH_ATP_HELICASE. 1 hit.
PS51192. HELICASE_ATP_BIND_1. 1 hit.
PS51194. HELICASE_CTER. 1 hit.
PS50967. HRDC. 1 hit.
[Graphical view ]
ProtoNeti Search...

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: September 3, 2014
This is version 131 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