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Description:
Bloom syndrome protein (EC 3.6.1.-) (RecQ protein-like 3) (DNAhelicase, RecQ-like type 2).
Molecular weight: 1590
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:
01-OCT-1996, integrated into UniProtKB/Swiss-Prot.
01-OCT-1996, sequence version 1.
21-FEB-2006, entry version 53.
Phylogenetic order:
Eukaryota Metazoa Chordata Craniata Vertebrata Euteleostomi Mammalia Eutheria Euarchontoglires Primates Catarrhini Hominidae Homo.
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_HUMAN:
| Database | Pointer | Add. info#1 | Add. info#2 |
| EMBL | U39817 | AAA87850.1 | - |
| EMBL | AY886902 | AAW62255.1 | - |
| PIR | A57570 | A57570. | |
| IntAct | P54132 | -.1 | |
| Ensembl | ENSG00000197299 | Homo sapiens.1 | |
| HGNC | HGNC:1058 | BLM.1 | |
| MIM | 210900 | phenotype. | |
| MIM | 604610 | gene. | |
| GO | GO:0004003 | F:ATP-dependent DNA helicase activity | TAS. |
| GO | GO:0004386 | F:helicase activity | TAS. |
| GO | GO:0019735 | P:antimicrobial humoral response (sensu Verte... | TAS. |
| GO | GO:0006310 | P:DNA recombination | TAS. |
| GO | GO:0006281 | P:DNA repair | TAS. |
| 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; Disease mutation; DNA replication; DNA-binding; Helicase; Hydrolase; Nuclear protein; Nucleotide-binding; Phosphorylation; Polymorphism.
References:
RN [1]
RP NUCLEOTIDE SEQUENCE, AND VARIANTS BS ARG-672; ILE-843 AND SER-1055.
RX MEDLINE=96069866; PubMed=7585968; DOI=10.1016/0092-8674(95)90105-1;
RA Ellis N.A., Groden J., Ye T.-Z., Straughen J., Lennon D.J., Ciocci S.,
RA Proytcheva M., German J.;
RT "The Bloom's syndrome gene product is homologous to RecQ helicases.";
RL Cell 83:655-666(1995).
RN [2]
RP NUCLEOTIDE SEQUENCE, AND FUNCTION.
RC TISSUE=B-cell;
RX MEDLINE=98049515; PubMed=9388193; DOI=10.1074/jbc.272.49.30611;
RA Karow J.K., Chakraverty R.K., Hickson I.D.;
RT "The Bloom's syndrome gene product is a 3'-5' DNA helicase.";
RL J. Biol. Chem. 272:30611-30614(1997).
RN [3]
RP NUCLEOTIDE SEQUENCE [GENOMIC DNA], AND VARIANTS ARG-137; MET-298;
RP GLN-591; LEU-868; ILE-1205 LYS-1213 AND ILE-1321.
RA Livingston R.J., Rieder M.J., Rajkumar N., Downing T.K., Olson A.N.,
RA Nguyen C.P., Gildersleeve H., Cassidy C.M., Johnson E.J.,
RA Swanson J.E., McFarland I., Yool B., Park C., Nickerson D.A.;
RT "NIEHS-SNPs, environmental genome project, NIEHS ES15478, Department
RT of Genome Sciences, Seattle, WA (URL: http://egp.gs.washington.edu).";
RL Submitted (JAN-2005) to the EMBL/GenBank/DDBJ databases.
RN [4]
RP NUCLEAR LOCALIZATION SIGNAL.
RX MEDLINE=98049834; PubMed=9388480; DOI=10.1006/bbrc.1997.7648;
RA Kaneko H., Orii K.O., Matsui E., Shimozawa N., Fukao T., Matsumoto T.,
RA Shimamoto A., Furuichi Y., Hayakawa S., Kasahara K., Kondo N.;
RT "BLM (the causative gene of Bloom syndrome) protein translocation into
RT the nucleus by a nuclear localization signal.";
RL Biochem. Biophys. Res. Commun. 240:348-353(1997).
RN [5]
RP IDENTIFICATION OF BLM AS MEMBER OF BASC.
RX MEDLINE=20245492; PubMed=10783165; DOI=10.1101/gad.827000;
RA Wang Y., Cortez D., Yazdi P., Neff N., Elledge S.J., Qin J.;
RT "BASC, a super complex of BRCA1-associated proteins involved in the
RT recognition and repair of aberrant DNA structures.";
RL Genes Dev. 14:927-939(2000).
RN [6]
RP INTERACTION WITH FANCD2, AND PHOSPHORYLATION.
RX PubMed=15257300; DOI=10.1038/sj.emboj.7600277;
RA Pichierri P., Franchitto A., Rosselli F.;
RT "BLM and the FANC proteins collaborate in a common pathway in response
RT to stalled replication forks.";
RL EMBO J. 23:3154-3163(2004).
RN [7]
RP FUNCTION IN DNA REPAIR.
RX MEDLINE=22013749; PubMed=12019152;
RA Langland G., Elliott J., Li Y., Creaney J., Dixon K., Groden J.;
RT "The BLM helicase is necessary for normal DNA double-strand break
RT repair.";
RL Cancer Res. 62:2766-2770(2002).
RN [8]
RP PHOSPHORYLATION SITE SER-1296.
RX PubMed=15302935; DOI=10.1073/pnas.0404720101;
RA Beausoleil S.A., Jedrychowski M., Schwartz D., Elias J.E., Villen J.,
RA Li J., Cohn M.A., Cantley L.C., Gygi S.P.;
RT "Large-scale characterization of HeLa cell nuclear phosphoproteins.";
RL Proc. Natl. Acad. Sci. U.S.A. 101:12130-12135(2004).
RN [9]
RP VARIANT BS PHE-1036.
RX MEDLINE=97449163; PubMed=9285778; DOI=10.1093/hmg/6.9.1427;
RA Foucault F., Vaury C., Barakat A., Thibout D., Planchon P., Jaulin C.,
RA Praz F., Amor-Gueret M.;
RT "Characterization of a new BLM mutation associated with a
RT topoisomerase II alpha defect in a patient with Bloom's syndrome.";
RL Hum. Mol. Genet. 6:1427-1434(1997).
RN [10]
RP VARIANT BS ARG-878.
RX MEDLINE=20321320; PubMed=10862105;
RX DOI=10.1002/1098-1004(200006)15:6<584::AID-HUMU28>3.0.CO;2-I;
RA Barakat A., Ababou M., Onclercq R., Dutertre S., Chadli E., Hda N.,
RA Benslimane A., Amor-Gueret M.;
RT "Identification of a novel BLM missense mutation (2706T>C) in a
RT Moroccan patient with Bloom's syndrome.";
RL Hum. Mutat. 15:584-585(2000).
Feature:
CHAIN 1 1417 Bloom syndrome protein.
/FTId=PRO_0000205039.
DOMAIN 1212 1292 HRDC.
NP_BIND 689 696 ATP (By similarity).
MOTIF 795 798 DEAH box.
MOTIF 1334 1349 Nuclear localization signal (Potential).
COMPBIAS 292 299 Poly-Asp.
COMPBIAS 310 316 Poly-Ser.
COMPBIAS 557 566 Poly-Asp.
MOD_RES 1296 1296 Phosphoserine.
VARIANT 137 137 K -> R.
/FTId=VAR_022295.
VARIANT 298 298 T -> M.
/FTId=VAR_022296.
VARIANT 591 591 R -> Q.
/FTId=VAR_022297.
VARIANT 672 672 Q -> R (in BS).
/FTId=VAR_006901.
VARIANT 841 841 I -> T (in BS).
/FTId=VAR_016032.
VARIANT 843 843 T -> I (in BS).
/FTId=VAR_006902.
VARIANT 868 868 P -> L (in dbSNP:11852361).
/FTId=VAR_022298.
VARIANT 878 878 C -> R (in BS).
/FTId=VAR_016033.
VARIANT 891 891 G -> E (in BS).
/FTId=VAR_009138.
VARIANT 901 901 C -> Y (in BS).
/FTId=VAR_009139.
VARIANT 1036 1036 C -> F (in BS).
/FTId=VAR_009140.
VARIANT 1055 1055 C -> S (in BS).
/FTId=VAR_006903.
VARIANT 1205 1205 V -> I.
/FTId=VAR_022299.
VARIANT 1209 1209 S -> T (in dbSNP:1801256).
/FTId=VAR_014912.
VARIANT 1213 1213 E -> K.
/FTId=VAR_022300.
VARIANT 1321 1321 V -> I.
/FTId=VAR_022301.
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.
-!- INTERACTION:
P39748:FEN1; NbExp=3; IntAct=EBI-621372, EBI-707816;
P27694:RPA1; NbExp=1; IntAct=EBI-621372, EBI-621389;
P54274:TERF1; NbExp=2; IntAct=EBI-621372, EBI-710997;
Q15554:TERF2; NbExp=5; IntAct=EBI-621372, EBI-706637;
Q14191:WRN; NbExp=4; IntAct=EBI-621372, EBI-368417;
-!- SUBCELLULAR LOCATION: Nucleus.
-!- PTM: Phosphorylated in response to DNA damage. Phosphorylation
requires the FANCA-FANCC-FANCE-FANCF-FANCG protein complex.
-!- DISEASE: Defects in BLM are the cause of bloom syndrome (BS)
[MIM:210900]. BS is an autosomal recessive disorder characterized
by proportionate pre- and postnatal growth deficiency, sun-
sensitive telangiectatic hypo- and hyperpigmented skin,
predisposition to malignancy, and chromosomal instability.
-!- SIMILARITY: Belongs to the helicase family. RecQ subfamily.
-!- SIMILARITY: Contains 1 HRDC domain.
-!- DATABASE: NAME=BLMbase; NOTE=BLM mutation db;
WWW="http://www.uta.fi/imt/bioinfo/BLMbase/".
-!- DATABASE: NAME=Atlas Genet. Cytogenet. Oncol. Haematol.;
WWW="http://www.infobiogen.fr/services/chromcancer/Genes/BLM109.html".
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Sequence length: 1417
MAAVPQNNLQ EQLERHSART LNNKLSLSKP KFSGFTFKKK TSSDNNVSVT NVSVAKTPVL
RNKDVNVTED FSFSEPLPNT TNQQRVKDFF KNAPAGQETQ RGGSKSLLPD FLQTPKEVVC
TTQNTPTVKK SRDTALKKLE FSSSPDSLST INDWDDMDDF DTSETSKSFV TPPQSHFVRV
STAQKSKKGK RNFFKAQLYT TNTVKTDLPP PSSESEQIDL TEEQKDDSEW LSSDVICIDD
GPIAEVHINE DAQESDSLKT HLEDERDNSE KKKNLEEAEL HSTEKVPCIE FDDDDYDTDF
VPPSPEEIIS ASSSSSKCLS TLKDLDTSDR KEDVLSTSKD LLSKPEKMSM QELNPETSTD
CDARQISLQQ QLIHVMEHIC KLIDTIPDDK LKLLDCGNEL LQQRNIRRKL LTEVDFNKSD
ASLLGSLWRY RPDSLDGPME GDSCPTGNSM KELNFSHLPS NSVSPGDCLL TTTLGKTGFS
ATRKNLFERP LFNTHLQKSF VSSNWAETPR LGKKNESSYF PGNVLTSTAV KDQNKHTASI
NDLERETQPS YDIDNFDIDD FDDDDDWEDI MHNLAASKSS TAAYQPIKEG RPIKSVSERL
SSAKTDCLPV SSTAQNINFS ESIQNYTDKS AQNLASRNLK HERFQSLSFP HTKEMMKIFH
KKFGLHNFRT NQLEAINAAL LGEDCFILMP TGGGKSLCYQ LPACVSPGVT VVISPLRSLI
VDQVQKLTSL DIPATYLTGD KTDSEATNIY LQLSKKDPII KLLYVTPEKI CASNRLISTL
ENLYERKLLA RFVIDEAHCV SQWGHDFRQD YKRMNMLRQK FPSVPVMALT ATANPRVQKD
ILTQLKILRP QVFSMSFNRH NLKYYVLPKK PKKVAFDCLE WIRKHHPYDS GIIYCLSRRE
CDTMADTLQR DGLAALAYHA GLSDSARDEV QQKWINQDGC QVICATIAFG MGIDKPDVRF
VIHASLPKSV EGYYQESGRA GRDGEISHCL LFYTYHDVTR LKRLIMMEKD GNHHTRETHF
NNLYSMVHYC ENITECRRIQ LLAYFGENGF NPDFCKKHPD VSCDNCCKTK DYKTRDVTDD
VKSIVRFVQE HSSSQGMRNI KHVGPSGRFT MNMLVDIFLG SKSAKIQSGI FGKGSAYSRH
NAERLFKKLI LDKILDEDLY INANDQAIAY VMLGNKAQTV LNGNLKVDFM ETENSSSVKK
QKALVAKVSQ REEMVKKCLG ELTEVCKSLG KVFGVHYFNI FNTVTLKKLA ESLSSDPEVL
LQIDGVTEDK LEKYGAEVIS VLQKYSEWTS PAEDSSPGIS LSSSRGPGRS AAEELDEEIP
VSSHYFASKT RNERKRKKMP ASQRSKRRKT ASSGSKAKGG SATCRKISSK TKSSSIIGSS
SASHTSQATS GANSKLGIMA PPKPINRPFL KPSYAFS