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Description:
Bloom syndrome protein homolog (EC 3.6.1.-) (mBLM).
Molecular weight: 1583
View which proteins in this organism that is involved with DNA Repair;
classified after biological processes (using data from the GOA project):
DNA repair( GO:0006281 )
Important dates:
15-DEC-1998, integrated into UniProtKB/Swiss-Prot.
01-NOV-1998, sequence version 1.
07-FEB-2006, entry version 49.
Phylogenetic order:
Eukaryota Metazoa Chordata Craniata Vertebrata Euteleostomi Mammalia Eutheria Euarchontoglires Glires Rodentia Sciurognathi Muroidea Muridae Murinae Mus.
To calculate the pI (Isoelectric point - the pH where a protein has a neutral charge),
go to this page and enter the protein ID (e.g 3MG_ECOLI): http://us.expasy.org/tools/pi_tool.html
Links to references in other databases for protein BLM_MOUSE:
| Database | Pointer | Add. info#1 | Add. info#2 |
| EMBL | Z98263 | CAB10933.1 | - |
| EMBL | AB008674 | BAA32001.1 | - |
| Ensembl | ENSMUSG00000030528 | Mus musculus.1 | |
| MGI | MGI:1328362 | Blm.1 | |
| GO | GO:0005657 | C:replication fork | IDA. |
| GO | GO:0005515 | F:protein binding | IPI. |
| GO | GO:0006281 | P:DNA repair | IDA. |
| GO | GO:0051098 | P:regulation of binding | IDA. |
| InterPro | IPR012532 | BDHCT. | |
| InterPro | IPR001410 | DEAD. | |
| InterPro | IPR011545 | DEAD/DEAH_N. | |
| InterPro | IPR002464 | DEAH_box. | |
| InterPro | IPR001650 | Helicase_C. | |
| InterPro | IPR002121 | HRDC. | |
| InterPro | IPR004589 | RecQ. | |
| PANTHER | PTHR13710 | RecQ.1 | 1. |
| Pfam | PF08072 | BDHCT | 1. |
| Pfam | PF00270 | DEAD | 1. |
| Pfam | PF00271 | Helicase_C | 1. |
| Pfam | PF00570 | HRDC | 1. |
| SMART | SM00487 | DEXDc | 1. |
| SMART | SM00490 | HELICc | 1. |
| SMART | SM00341 | HRDC | 1. |
| TIGRFAMs | TIGR00614 | recQ_fam | 1. |
| PROSITE | PS00690 | DEAH_ATP_HELICASE | 1. |
| PROSITE | PS50967 | HRDC | 1. |
Keywords:
ATP-binding; DNA replication; DNA-binding; Helicase; Hydrolase; Nuclear protein; Nucleotide-binding; Phosphorylation.
References:
RN [1]
RP NUCLEOTIDE SEQUENCE [MRNA], FUNCTION, AND MUTAGENESIS.
RX MEDLINE=99054654; PubMed=9840919; DOI=10.1038/sj.onc.1202389;
RA Bahr A., de Graeve F., Kedinger C., Chatton B.;
RT "Point mutations causing Bloom's syndrome abolish ATPase and DNA
RT helicase activities of the BLM protein.";
RL Oncogene 17:2565-2571(1998).
RN [2]
RP NUCLEOTIDE SEQUENCE [MRNA], AND TISSUE SPECIFICITY.
RC STRAIN=BALB/c; TISSUE=Brain, Spermatocyte, and Testis;
RX MEDLINE=98322127; PubMed=9655940; DOI=10.1016/S0167-4781(98)00066-9;
RA Seki T., Wang W.-S., Okumura N., Seki M., Katada T., Enomoto T.;
RT "cDNA cloning of mouse BLM gene, the homologue to human Bloom's
RT syndrome gene, which is highly expressed in the testis at the mRNA
RT level.";
RL Biochim. Biophys. Acta 1398:377-381(1998).
Feature:
CHAIN 1 1416 Bloom syndrome protein homolog.
/FTId=PRO_0000205040.
DOMAIN 1217 1297 HRDC.
NP_BIND 697 704 ATP (By similarity).
MOTIF 803 806 DEAH box.
MOTIF 1333 1348 Nuclear localization signal (Potential).
COMPBIAS 219 231 Poly-Glu.
COMPBIAS 564 574 Poly-Asp.
COMPBIAS 1312 1317 Poly-Glu.
MOD_RES 1301 1301 Phosphoserine (By similarity).
MUTAGEN 680 680 Q->P: Reduced ATPase and helicase
activities.
MUTAGEN 703 703 K->A: Reduced ATPase and helicase
activities.
MUTAGEN 849 849 I->T: Reduced ATPase and helicase
activities.
MUTAGEN 1063 1063 C->S: Reduced ATPase and helicase
activities.
CONFLICT 131 131 L -> P (in Ref. 2).
CONFLICT 229 229 E -> EE (in Ref. 2).
CONFLICT 535 535 V -> M (in Ref. 2).
CONFLICT 546 547 WN -> RT (in Ref. 2).
CONFLICT 574 574 Missing (in Ref. 2).
CONFLICT 591 591 T -> A (in Ref. 2).
CONFLICT 621 621 T -> N (in Ref. 2).
CONFLICT 1295 1295 V -> L (in Ref. 2).
Comments:
-!- FUNCTION: 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.
-!- SUBUNIT: 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 (By
similarity).
-!- SUBCELLULAR LOCATION: Nucleus (By similarity).
-!- TISSUE SPECIFICITY: Highly expressed in testis 12-14 days after
birth (corresponding to the pachytene phase) and at much lower
levels in brain, heart, kiver, lung, thymus, kidney and spleen.
-!- PTM: Phosphorylated in response to DNA damage. Phosphorylation
requires the FANCA-FANCC-FANCE-FANCF-FANCG protein complex (By
similarity).
-!- SIMILARITY: Belongs to the helicase family. RecQ subfamily.
-!- SIMILARITY: Contains 1 HRDC domain.
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Sequence length: 1416
MAAVPLNNLQ EQLQRHSARK LNNQPSLSKP KSLGFTFKKK TSEGDVSVTS VSVVKTPALS
DKDVNVSEAF SFTESPLHKP KQQAKIEGFF KHFPGRQQSK GTCSEPSLPA TVQTAQDTLC
TTPKTPTAKK LPVAVFKKLE FSSSADSLSD WADMDDFDMS ASDAFASLAK NPATRVSTAQ
KMKKTKRNFF KPPPRKANAV KTDLTPPSPE CLQVDLTKES EEEEEEEEEA EGADCLSRDV
ICIDNDSASE ELTEKDTQES QSLKAHLGAE RGDSEKKSHE DEAVFHSVQN TEYFEHNDND
YDIDFVPPSP EEIISTASSS LKCSSMLKDL DDSDKEKGIL STSEELLSKP EEMTTHKSDA
GTSKDCDAQQ IRIQQQLIHV MEHICKLVDT VPTDELEALN CGTELLQQRN IRRKLLAEAG
FNGNDVRLLG SLWRHRPDSL DNTVQGDSCP VGHPNKELNS PYLLSHSPST EECLPTTTPG
KTGFSATPKN LFERPLLNSH LQKSFVSSNW AETPRMENRN ESTDFPGSVL TSTTVKAQSK
QAASGWNVER HGQASYDIDN FNIDDFDDDD DDDDWENIMH NFPASKSSTA TYPPIKEGGP
VKSLSERISS AKAKFLPVVS TAQNTNLSES IQNCSDKLAQ NLSSKNPKHE HFQSLNFPHT
KEMMKIFHKK FGLHNFRTNQ LEAINAALLG EDCFILMPTG GGKSLCYQLP ACVSPGVTIV
ISPLRSLIVD QVQKLTSFDI PATYLTGDKT DSEAANIYLQ LSKKDPIIKL LYVTPEKVCA
SNRLISTLEN LYERKLLARF VIDEAHCVSQ WGHDFRQDYK RMNMLRQKFP SVPVMALTAT
ANPRVQKDIL TQLKILRPQV FSMSFNRHNL KYYVLPKKPK KVAFDCLEWI RKHHPYDSGI
IYCLSRRECD TMADTLQREG LAALAYHAGL SDSARDEVQH KWINQDNCQV ICATIAFGMG
IDKPDVRFVI HASLPKSMEG YYQESGRAGR DGEISHCVLF YTYHDVTRLK RLIMMEKDGN
YHTKETHVNN LYSMVHYCEN ITECRRIQLL AYFGEKGFNP DFCKKYPDVS CDNCCKTKDY
KTKDVTDDVK NIIRFVQEHS SSPGTRNIGP AGRFTLNMLV DIFLGSKSAK VKSGIFGKGT
TYSRHNAERL FKKLILDKIL DEDLYINAND QPIAYVMLGT KAHSVLSGHL KVDFMETENS
SSIKKQKALV AKVSQREEVV KKCLGELTEV CKLLGKVFGV HYFNIFNTAT LKKLAESLSS
DPEVLLQIDG VTEDKLEKYG AEVIPVLQKY SEWTVPAEDG SPGARGAPED TEEEEEEAPV
SSHYFANQTR NERKRKKMSA THKPKRRRTS YGGFRAKGGS TTCRKTTSKS KFYGVTGSRS
ASCASQATSS ASRKLGIMAP PKPVNRTFLR PSYAFS