Bloom syndrome protein - Homo sapiens (Human)

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Reviewed, UniProtKB/Swiss-Prot P54132 (BLM_HUMAN)

Last modified November 25, 2008. Version 87. History...

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Names and origin · Protein attributes · General annotation (Comments) · Ontologies · Binary interactions · Sequence annotation (Features) · Sequences · References · Web resources · Cross-references · Entry information · Relevant documents

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Names and origin

Protein names

Recommended name:
    Bloom syndrome protein
    EC=3.6.1.-
Alternative name(s):
    RecQ protein-like 3
    DNA helicase, RecQ-like type 2

Gene names

Name:	BLM
Synonyms:	RECQ2, RECQL3

Organism

Homo sapiens (Human)

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo

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Protein attributes

Sequence length	1417 AA.
Sequence status	Complete.
Sequence processing	The displayed sequence is not processed.
Protein existence	Evidence at protein level.

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General annotation (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 structure	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 RMI1.
Subcellular location	Nucleus.
Post-translational modification	Phosphorylated in response to DNA damage. Phosphorylation requires the FANCA-FANCC-FANCE-FANCF-FANCG protein complex, as well as the presence of RMI1.
Involvement in disease	Defects in BLM are the cause of Bloom syndrome (BLM) [MIM:210900]. BLM 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.
Sequence similarities	Belongs to the helicase family. RecQ subfamily. Contains 1 helicase ATP-binding domain. Contains 1 helicase C-terminal domain. Contains 1 HRDC domain.

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Ontologies

Keywords
Biological process	DNA replication
Cellular component	Nucleus
Coding sequence diversity	Polymorphism
Disease	Disease mutation
Ligand	ATP-binding DNA-binding Nucleotide-binding
Molecular function	Helicase Hydrolase
PTM	Phosphoprotein
Gene Ontology (GO)
Biological process	G2 phase of mitotic cell cycle Non-traceable author statement. Source: UniProtKB G2/M transition DNA damage checkpoint Non-traceable author statement. Source: UniProtKB double-strand break repair via homologous recombination Non-traceable author statement. Source: UniProtKB negative regulation of cell division Inferred from mutant phenotype. Source: UniProtKB positive regulation of transcription Inferred from direct assay. Source: UniProtKB protein oligomerization Inferred from direct assay. Source: UniProtKB regulation of cyclin-dependent protein kinase activity Inferred from mutant phenotype. Source: UniProtKB replication fork processing Inferred from direct assay. Source: UniProtKB replication fork protection Non-traceable author statement. Source: UniProtKB response to X-ray Inferred from direct assay. Source: UniProtKB
Cellular component	PML body Inferred from direct assay. Source: UniProtKB cytoplasm Inferred from direct assay. Source: HPA lateral element Inferred from direct assay. Source: UniProtKB nuclear matrix Inferred from direct assay. Source: UniProtKB nucleolus Inferred from direct assay. Source: UniProtKB
Molecular function	ATP binding Inferred from direct assay. Source: UniProtKB DNA strand annealing activity Inferred from direct assay. Source: UniProtKB G-quadruplex DNA binding Inferred from direct assay. Source: UniProtKB bubble DNA binding Inferred from direct assay. Source: UniProtKB four-way junction helicase activity Inferred from direct assay. Source: UniProtKB p53 binding Inferred from physical interaction. Source: UniProtKB
Complete GO annotation...

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Binary interactions

With	Entry	#Exp.	IntAct
FEN1	P39748	3	EBI-621372,EBI-707816
RPA1	P27694	1	EBI-621372,EBI-621389
TERF1	P54274	2	EBI-621372,EBI-710997
TERF2	Q15554	5	EBI-621372,EBI-706637
WRN	Q14191	4	EBI-621372,EBI-368417

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Sequence annotation (Features)

Feature key

Position(s)

Length

Description

Graphical view

Feature identifier

Molecule processing

Chain

1 – 1417

1417

Bloom syndrome protein

PRO_0000205039

Regions

Domain

676 – 851

176

Helicase ATP-binding

Domain

877 – 1024

148

Helicase C-terminal

Domain

1212 – 1292

HRDC

Nucleotide binding

689 – 696

ATP By similarity

Motif

795 – 798

DEAH box

Motif

1334 – 1349

Nuclear localization signal Potential

Compositional bias

292 – 299

Poly-Asp

Compositional bias

310 – 316

Poly-Ser

Compositional bias

557 – 566

Poly-Asp

Amino acid modifications

Modified residue

Phosphoserine

Modified residue

Phosphoserine

Modified residue

Phosphothreonine

Modified residue

114

Phosphothreonine

Modified residue

358

Phosphoserine

Modified residue

419

Phosphoserine

Modified residue

422

Phosphoserine

Modified residue

480

Phosphoserine

Modified residue

499

Phosphoserine

Modified residue

508

Phosphothreonine

Modified residue

1295

Phosphoserine

Modified residue

1296

Phosphoserine

Modified residue

1303

Phosphoserine

Modified residue

1310

Phosphoserine

Natural variations

Natural variant

137

K → R: dbSNP rs28384988.

VAR_022295

Natural variant

298

T → M: dbSNP rs28384991.

VAR_022296

Natural variant

591

R → Q: dbSNP rs28385012.

VAR_022297

Natural variant

672

Q → R in BLM.

VAR_006901

Natural variant

841

I → T in BLM.

VAR_016032

Natural variant

843

T → I in BLM.

VAR_006902

Natural variant

868

P → L: dbSNP rs11852361.

VAR_022298

Natural variant

878

C → R in BLM.

VAR_016033

Natural variant

891

G → E in BLM.

VAR_009138

Natural variant

901

C → Y in BLM.

VAR_009139

Natural variant

1036

C → F in BLM.

VAR_009140

Natural variant

1055

C → S in BLM.

VAR_006903

Natural variant

1205

V → I: dbSNP rs28385141.

VAR_022299

Natural variant

1209

S → T: dbSNP rs1801256.

VAR_014912

Natural variant

1213

E → K: dbSNP rs28385142.

VAR_022300

Natural variant

1321

V → I: dbSNP rs7167216.

VAR_022301

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Sequences

Sequence

Length

Mass (Da)

Tools

P54132-1 [UniParc].

Last modified October 1, 1996. Version 1.
Checksum: 423DF5F381194E11
Show »

FASTA

1,417

159,000

        10         20         30         40         50         60 
MAAVPQNNLQ EQLERHSART LNNKLSLSKP KFSGFTFKKK TSSDNNVSVT NVSVAKTPVL 

        70         80         90        100        110        120 
RNKDVNVTED FSFSEPLPNT TNQQRVKDFF KNAPAGQETQ RGGSKSLLPD FLQTPKEVVC 

       130        140        150        160        170        180 
TTQNTPTVKK SRDTALKKLE FSSSPDSLST INDWDDMDDF DTSETSKSFV TPPQSHFVRV 

       190        200        210        220        230        240 
STAQKSKKGK RNFFKAQLYT TNTVKTDLPP PSSESEQIDL TEEQKDDSEW LSSDVICIDD 

       250        260        270        280        290        300 
GPIAEVHINE DAQESDSLKT HLEDERDNSE KKKNLEEAEL HSTEKVPCIE FDDDDYDTDF 

       310        320        330        340        350        360 
VPPSPEEIIS ASSSSSKCLS TLKDLDTSDR KEDVLSTSKD LLSKPEKMSM QELNPETSTD 

       370        380        390        400        410        420 
CDARQISLQQ QLIHVMEHIC KLIDTIPDDK LKLLDCGNEL LQQRNIRRKL LTEVDFNKSD 

       430        440        450        460        470        480 
ASLLGSLWRY RPDSLDGPME GDSCPTGNSM KELNFSHLPS NSVSPGDCLL TTTLGKTGFS 

       490        500        510        520        530        540 
ATRKNLFERP LFNTHLQKSF VSSNWAETPR LGKKNESSYF PGNVLTSTAV KDQNKHTASI 

       550        560        570        580        590        600 
NDLERETQPS YDIDNFDIDD FDDDDDWEDI MHNLAASKSS TAAYQPIKEG RPIKSVSERL 

       610        620        630        640        650        660 
SSAKTDCLPV SSTAQNINFS ESIQNYTDKS AQNLASRNLK HERFQSLSFP HTKEMMKIFH 

       670        680        690        700        710        720 
KKFGLHNFRT NQLEAINAAL LGEDCFILMP TGGGKSLCYQ LPACVSPGVT VVISPLRSLI 

       730        740        750        760        770        780 
VDQVQKLTSL DIPATYLTGD KTDSEATNIY LQLSKKDPII KLLYVTPEKI CASNRLISTL 

       790        800        810        820        830        840 
ENLYERKLLA RFVIDEAHCV SQWGHDFRQD YKRMNMLRQK FPSVPVMALT ATANPRVQKD 

       850        860        870        880        890        900 
ILTQLKILRP QVFSMSFNRH NLKYYVLPKK PKKVAFDCLE WIRKHHPYDS GIIYCLSRRE 

       910        920        930        940        950        960 
CDTMADTLQR DGLAALAYHA GLSDSARDEV QQKWINQDGC QVICATIAFG MGIDKPDVRF 

       970        980        990       1000       1010       1020 
VIHASLPKSV EGYYQESGRA GRDGEISHCL LFYTYHDVTR LKRLIMMEKD GNHHTRETHF 

      1030       1040       1050       1060       1070       1080 
NNLYSMVHYC ENITECRRIQ LLAYFGENGF NPDFCKKHPD VSCDNCCKTK DYKTRDVTDD 

      1090       1100       1110       1120       1130       1140 
VKSIVRFVQE HSSSQGMRNI KHVGPSGRFT MNMLVDIFLG SKSAKIQSGI FGKGSAYSRH 

      1150       1160       1170       1180       1190       1200 
NAERLFKKLI LDKILDEDLY INANDQAIAY VMLGNKAQTV LNGNLKVDFM ETENSSSVKK 

      1210       1220       1230       1240       1250       1260 
QKALVAKVSQ REEMVKKCLG ELTEVCKSLG KVFGVHYFNI FNTVTLKKLA ESLSSDPEVL 

      1270       1280       1290       1300       1310       1320 
LQIDGVTEDK LEKYGAEVIS VLQKYSEWTS PAEDSSPGIS LSSSRGPGRS AAEELDEEIP 

      1330       1340       1350       1360       1370       1380 
VSSHYFASKT RNERKRKKMP ASQRSKRRKT ASSGSKAKGG SATCRKISSK TKSSSIIGSS 

      1390       1400       1410 
SASHTSQATS GANSKLGIMA PPKPINRPFL KPSYAFS

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References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"The Bloom's syndrome gene product is homologous to RecQ helicases." Ellis N.A., Groden J., Ye T.-Z., Straughen J., Lennon D.J., Ciocci S., Proytcheva M., German J. Cell 83:655-666(1995) [PubMed: 7585968] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA], VARIANTS BLM ARG-672; ILE-843 AND SER-1055.
[2]	"The Bloom's syndrome gene product is a 3'-5' DNA helicase." Karow J.K., Chakraverty R.K., Hickson I.D. J. Biol. Chem. 272:30611-30614(1997) [PubMed: 9388193] [Abstract] Cited for: NUCLEOTIDE SEQUENCE, FUNCTION. Tissue: B-cell.
[3]	"NIEHS-SNPs, environmental genome project, NIEHS ES15478, Department of Genome Sciences, Seattle, WA (URL: http://egp.gs.washington.edu)." Livingston R.J., Rieder M.J., Rajkumar N., Downing T.K., Olson A.N., Nguyen C.P., Gildersleeve H., Cassidy C.M., Johnson E.J., Swanson J.E., McFarland I., Yool B., Park C., Nickerson D.A. Submitted (JAN-2005) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANTS ARG-137; MET-298; GLN-591; LEU-868; ILE-1205 LYS-1213 AND ILE-1321.
[4]	"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)." The MGC Project Team Genome Res. 14:2121-2127(2004) [PubMed: 15489334] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
[5]	"BLM (the causative gene of Bloom syndrome) protein translocation into the nucleus by a nuclear localization signal." Kaneko H., Orii K.O., Matsui E., Shimozawa N., Fukao T., Matsumoto T., Shimamoto A., Furuichi Y., Hayakawa S., Kasahara K., Kondo N. Biochem. Biophys. Res. Commun. 240:348-353(1997) [PubMed: 9388480] [Abstract] Cited for: NUCLEAR LOCALIZATION SIGNAL.
[6]	"BASC, a super complex of BRCA1-associated proteins involved in the recognition and repair of aberrant DNA structures." Wang Y., Cortez D., Yazdi P., Neff N., Elledge S.J., Qin J. Genes Dev. 14:927-939(2000) [PubMed: 10783165] [Abstract] Cited for: IDENTIFICATION OF BLM AS MEMBER OF BASC.
[7]	"BLM and the FANC proteins collaborate in a common pathway in response to stalled replication forks." Pichierri P., Franchitto A., Rosselli F. EMBO J. 23:3154-3163(2004) [PubMed: 15257300] [Abstract] Cited for: INTERACTION WITH FANCD2, PHOSPHORYLATION.
[8]	"The BLM helicase is necessary for normal DNA double-strand break repair." Langland G., Elliott J., Li Y., Creaney J., Dixon K., Groden J. Cancer Res. 62:2766-2770(2002) [PubMed: 12019152] [Abstract] Cited for: FUNCTION IN DNA REPAIR.
[9]	"Large-scale characterization of HeLa cell nuclear phosphoproteins." Beausoleil S.A., Jedrychowski M., Schwartz D., Elias J.E., Villen J., Li J., Cohn M.A., Cantley L.C., Gygi S.P. Proc. Natl. Acad. Sci. U.S.A. 101:12130-12135(2004) [PubMed: 15302935] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-1296, MASS SPECTROMETRY. Tissue: Epithelium.
[10]	"BLAP75, an essential component of Bloom's syndrome protein complexes that maintain genome integrity." Yin J., Sobeck A., Xu C., Meetei A.R., Hoatlin M., Li L., Wang W. EMBO J. 24:1465-1476(2005) [PubMed: 15775963] [Abstract] Cited for: IDENTIFICATION IN A COMPLEX WITH RMI1, PHOSPHORYLATION.
[11]	"A double Holliday junction dissolvasome comprising BLM, topoisomerase III alpha, and BLAP75." Raynard S., Bussen W., Sung P. J. Biol. Chem. 281:13861-13864(2006) [PubMed: 16595695] [Abstract] Cited for: INTERACTION WITH RMI1.
[12]	"A probability-based approach for high-throughput protein phosphorylation analysis and site localization." Beausoleil S.A., Villen J., Gerber S.A., Rush J., Gygi S.P. Nat. Biotechnol. 24:1285-1292(2006) [PubMed: 16964243] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-499 AND THR-508, MASS SPECTROMETRY. Tissue: Epithelium.
[13]	"Phosphoproteome analysis of the human mitotic spindle." Nousiainen M., Sillje H.H.W., Sauer G., Nigg E.A., Koerner R. Proc. Natl. Acad. Sci. U.S.A. 103:5391-5396(2006) [PubMed: 16565220] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-419 AND SER-422, MASS SPECTROMETRY. Tissue: Epithelium.
[14]	"Improved titanium dioxide enrichment of phosphopeptides from HeLa cells and high confident phosphopeptide identification by cross-validation of MS/MS and MS/MS/MS spectra." Yu L.-R., Zhu Z., Chan K.C., Issaq H.J., Dimitrov D.S., Veenstra T.D. J. Proteome Res. 6:4150-4162(2007) [PubMed: 17924679] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-480, MASS SPECTROMETRY. Tissue: Epithelium.
[15]	"A quantitative atlas of mitotic phosphorylation." Dephoure N., Zhou C., Villen J., Beausoleil S.A., Bakalarski C.E., Elledge S.J., Gygi S.P. Proc. Natl. Acad. Sci. U.S.A. 105:10762-10767(2008) [PubMed: 18669648] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-48; SER-53; THR-57; THR-114; SER-358; SER-419; SER-422; SER-1295; SER-1296; SER-1303 AND SER-1310, MASS SPECTROMETRY.
[16]	"Characterization of a new BLM mutation associated with a topoisomerase II alpha defect in a patient with Bloom's syndrome." Foucault F., Vaury C., Barakat A., Thibout D., Planchon P., Jaulin C., Praz F., Amor-Gueret M. Hum. Mol. Genet. 6:1427-1434(1997) [PubMed: 9285778] [Abstract] Cited for: VARIANT BLM PHE-1036.
[17]	"Identification of a novel BLM missense mutation (2706T>C) in a Moroccan patient with Bloom's syndrome." Barakat A., Ababou M., Onclercq R., Dutertre S., Chadli E., Hda N., Benslimane A., Amor-Gueret M. Hum. Mutat. 15:584-585(2000) [PubMed: 10862105] [Abstract] Cited for: VARIANT BLM ARG-878.
+	Additional computationally mapped references.

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Web resources

BLMbase

BLM mutation db

Atlas of Genetics and Cytogenetics in Oncology and Haematology

GeneReviews

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Cross-references

Sequence databases
	U39817 mRNA. Translation: AAA87850.1. AY886902 Genomic DNA. Translation: AAW62255.1. BC093622 mRNA. Translation: AAH93622.1. BC101567 mRNA. Translation: AAI01568.1. BC115030 mRNA. Translation: AAI15031.1. BC115032 mRNA. Translation: AAI15033.1.
PIR	A57570.
RefSeq	NP_000048.1.
UniGene	Hs.169348
3D structure databases
ModBase	Search...
Protein-protein interaction databases
IntAct	P54132.
PTM databases
PhosphoSite	P54132.
Polymorphism databases
NIEHS-SNPs	Search...
Genome annotation databases
Ensembl	ENSG00000197299. Homo sapiens. [Contig view]
GeneID	641.
KEGG	hsa:641.
Organism-specific databases
H-InvDB	HIX0038129.
HGNC	HGNC:1058. BLM.
HPA	HPA005689.
MIM	210900. phenotype. 604610. gene.
Orphanet	125. Bloom syndrome.
PharmGKB	PA25369.
GenAtlas	Search...
GeneCards	Search...
Phylogenomic databases
HOGENOM	P54132.
HOVERGEN	P54132.
Gene expression databases
ArrayExpress	P54132.
CleanEx	HS_BLM.
GermOnline	ENSG00000197299. Homo sapiens.
Family and domain databases
InterPro	IPR012532. BDHCT. IPR014001. DEAD-like_N. IPR001650. DNA/RNA_helicase_C. IPR011545. DNA/RNA_helicase_DEAD/DEAH_N. IPR002464. DNA/RNA_helicase_DEAH_CS. IPR004589. DNA_helicase_ATP-dep_RecQ. IPR014021. Helicase_SF1/SF2_ATP-bd. IPR002121. HRDC. [Graphical view]
PANTHER	PTHR13710. RecQ. 1 hit.
Pfam	PF08072. BDHCT. 1 hit. PF00270. DEAD. 1 hit. PF00271. Helicase_C. 1 hit. PF00570. HRDC. 1 hit. [Graphical view]
SMART	SM00487. DEXDc. 1 hit. SM00490. HELICc. 1 hit. SM00341. HRDC. 1 hit. [Graphical view]
TIGRFAMs	TIGR00614. recQ_fam. 1 hit.
PROSITE	PS00690. DEAH_ATP_HELICASE. 1 hit. PS51192. HELICASE_ATP_BIND_1. 1 hit. PS51194. HELICASE_CTER. 1 hit. PS50967. HRDC. 1 hit. [Graphical view]
ProtoNet	Search...
Other Resources
NextBio	2600.

Names and origin

Protein attributes

General annotation (Comments)

Ontologies

Keywords

Gene Ontology (GO)

Binary interactions

With

Entry

#Exp.

IntAct

Notes

Sequence annotation (Features)

Molecule processing

Regions

Amino acid modifications

Natural variations

Sequences

References

Web resources

Cross-references

Sequence databases

3D structure databases

Protein-protein interaction databases

PTM databases

Polymorphism databases

Genome annotation databases

Organism-specific databases

Phylogenomic databases

Gene expression databases

Family and domain databases

Other Resources