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O88700

- BLM_MOUSE

UniProt

O88700 - BLM_MOUSE

Protein

Bloom syndrome protein homolog

Gene

Blm

Organism
Mus musculus (Mouse)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 132 (01 Oct 2014)
      Sequence version 1 (01 Nov 1998)
      Previous versions | rss
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    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. 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

    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: GOC
    9. DNA recombination Source: InterPro
    10. DNA repair Source: MGI
    11. DNA replication Source: UniProtKB-KW
    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

    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.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

    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

    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.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. 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

    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:
    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...
    MobiDBi 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: October 1, 2014
    This is version 132 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