Bloom syndrome protein homolog - Mus musculus (Mouse)

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O88700 (BLM_MOUSE) Reviewed, UniProtKB/Swiss-Prot

Last modified May 1, 2013. Version 119. History...

Clusters with 100%, 90%, 50% identity |

Documents (2) |

Third-party data

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Names·Attributes·General annotation·Ontologies·Sequence annotation·Sequences·References·Cross-refs·Entry info·Documents Customize order

Names and origin

Protein names

Recommended name:
Bloom syndrome protein homolog
Short name=mBLM
EC=3.6.4.12

Alternative name(s):
RecQ helicase homolog

Gene names

Name:

Blm

Organism

Mus musculus (Mouse) [Reference proteome]

Taxonomic identifier

10090 [NCBI]

Taxonomic lineage

Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Glires › Rodentia › Sciurognathi › Muroidea › Muridae › Murinae › Mus › Mus

Protein attributes

Sequence length	1416 AA.
Sequence status	Complete.
Protein existence	Evidence at protein level

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. 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. Ref.1
Catalytic activity	ATP + H₂O = ADP + phosphate.
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 RMI complex. Interacts directly with RMI1 component of RMI complex. Interacts with SUPV3L1 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, liver, lung, thymus, kidney and spleen. Ref.2
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 By similarity.
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.

Ontologies

Keywords
Biological process	DNA replication
Cellular component	Nucleus
Ligand	ATP-binding DNA-binding Nucleotide-binding
Molecular function	Helicase Hydrolase
PTM	Acetylation Phosphoprotein
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	DNA double-strand break processing Inferred from sequence or structural similarity. Source: UniProtKB DNA recombination Inferred from electronic annotation. Source: InterPro DNA replication Inferred from electronic annotation. Source: UniProtKB-KW alpha-beta T cell differentiation Inferred from mutant phenotype PubMed 17210642. Source: MGI negative regulation of mitotic recombination Inferred from mutant phenotype PubMed 11101838 PubMed 16914751 PubMed 17210642 PubMed 9808625. Source: MGI positive regulation of alpha-beta T cell proliferation Inferred from mutant phenotype PubMed 17210642. Source: MGI regulation of binding Inferred from direct assay PubMed 15364958. Source: MGI telomere maintenance Inferred from genetic interaction PubMed 15367665. Source: MGI
Cellular_component	cytoplasm Inferred from direct assay PubMed 17982445. Source: MGI male germ cell nucleus Inferred from direct assay PubMed 17696610. Source: MGI nucleoplasm Traceable author statement. Source: Reactome pronucleus Inferred from direct assay PubMed 17982445. Source: MGI replication fork Inferred from direct assay PubMed 15364958. Source: MGI
Molecular_function	ATP binding Inferred from electronic annotation. Source: UniProtKB-KW ATP-dependent 3'-5' DNA helicase activity Inferred from direct assay Ref.1. Source: MGI DNA binding Inferred from electronic annotation. Source: UniProtKB-KW
Complete GO annotation...

Sequence annotation (Features)

Feature key

Position(s)

Length

Description

Graphical view

Feature identifier

Molecule processing

Chain

1 – 1416

1416

Bloom syndrome protein homolog

PRO_0000205040

Regions

Domain

684 – 859

176

Helicase ATP-binding

Domain

885 – 1032

148

Helicase C-terminal

Domain

1217 – 1297

HRDC

Nucleotide binding

697 – 704

ATP By similarity

Motif

803 – 806

DEAH box

Motif

1333 – 1348

Nuclear localization signal Potential

Compositional bias

219 – 231

Poly-Glu

Compositional bias

564 – 574

Poly-Asp

Compositional bias

1312 – 1317

Poly-Glu

Amino acid modifications

Modified residue

Phosphoserine By similarity

Modified residue

Phosphoserine By similarity

Modified residue

Phosphothreonine By similarity

Modified residue

114

Phosphothreonine By similarity

Modified residue

363

Phosphoserine By similarity

Modified residue

431

Phosphoserine By similarity

Modified residue

504

Phosphoserine By similarity

Modified residue

513

Phosphothreonine By similarity

Modified residue

871

N6-acetyllysine By similarity

Modified residue

1301

Phosphoserine By similarity

Experimental info

Mutagenesis

680

Q → P: Reduced ATPase and helicase activities.

Mutagenesis

703

K → A: Reduced ATPase and helicase activities.

Mutagenesis

849

I → T: Reduced ATPase and helicase activities.

Mutagenesis

1063

C → S: Reduced ATPase and helicase activities.

Sequence conflict

131

L → P in BAA32001. Ref.2

Sequence conflict

229

E → EE in BAA32001. Ref.2

Sequence conflict

535

V → M in BAA32001. Ref.2

Sequence conflict

546 – 547

WN → RT in BAA32001. Ref.2

Sequence conflict

574

Missing in BAA32001. Ref.2

Sequence conflict

591

T → A in BAA32001. Ref.2

Sequence conflict

621

T → N in BAA32001. Ref.2

Sequence conflict

1295

V → L in BAA32001. Ref.2

Sequences

Sequence

Length

Mass (Da)

Tools

O88700 [UniParc].

Last modified November 1, 1998. Version 1.
Checksum: 447C8110A775DD42
Show »

FASTA

1,416

158,366

        10         20         30         40         50         60 
MAAVPLNNLQ EQLQRHSARK LNNQPSLSKP KSLGFTFKKK TSEGDVSVTS VSVVKTPALS 

        70         80         90        100        110        120 
DKDVNVSEAF SFTESPLHKP KQQAKIEGFF KHFPGRQQSK GTCSEPSLPA TVQTAQDTLC 

       130        140        150        160        170        180 
TTPKTPTAKK LPVAVFKKLE FSSSADSLSD WADMDDFDMS ASDAFASLAK NPATRVSTAQ 

       190        200        210        220        230        240 
KMKKTKRNFF KPPPRKANAV KTDLTPPSPE CLQVDLTKES EEEEEEEEEA EGADCLSRDV 

       250        260        270        280        290        300 
ICIDNDSASE ELTEKDTQES QSLKAHLGAE RGDSEKKSHE DEAVFHSVQN TEYFEHNDND 

       310        320        330        340        350        360 
YDIDFVPPSP EEIISTASSS LKCSSMLKDL DDSDKEKGIL STSEELLSKP EEMTTHKSDA 

       370        380        390        400        410        420 
GTSKDCDAQQ IRIQQQLIHV MEHICKLVDT VPTDELEALN CGTELLQQRN IRRKLLAEAG 

       430        440        450        460        470        480 
FNGNDVRLLG SLWRHRPDSL DNTVQGDSCP VGHPNKELNS PYLLSHSPST EECLPTTTPG 

       490        500        510        520        530        540 
KTGFSATPKN LFERPLLNSH LQKSFVSSNW AETPRMENRN ESTDFPGSVL TSTTVKAQSK 

       550        560        570        580        590        600 
QAASGWNVER HGQASYDIDN FNIDDFDDDD DDDDWENIMH NFPASKSSTA TYPPIKEGGP 

       610        620        630        640        650        660 
VKSLSERISS AKAKFLPVVS TAQNTNLSES IQNCSDKLAQ NLSSKNPKHE HFQSLNFPHT 

       670        680        690        700        710        720 
KEMMKIFHKK FGLHNFRTNQ LEAINAALLG EDCFILMPTG GGKSLCYQLP ACVSPGVTIV 

       730        740        750        760        770        780 
ISPLRSLIVD QVQKLTSFDI PATYLTGDKT DSEAANIYLQ LSKKDPIIKL LYVTPEKVCA 

       790        800        810        820        830        840 
SNRLISTLEN LYERKLLARF VIDEAHCVSQ WGHDFRQDYK RMNMLRQKFP SVPVMALTAT 

       850        860        870        880        890        900 
ANPRVQKDIL TQLKILRPQV FSMSFNRHNL KYYVLPKKPK KVAFDCLEWI RKHHPYDSGI 

       910        920        930        940        950        960 
IYCLSRRECD TMADTLQREG LAALAYHAGL SDSARDEVQH KWINQDNCQV ICATIAFGMG 

       970        980        990       1000       1010       1020 
IDKPDVRFVI HASLPKSMEG YYQESGRAGR DGEISHCVLF YTYHDVTRLK RLIMMEKDGN 

      1030       1040       1050       1060       1070       1080 
YHTKETHVNN LYSMVHYCEN ITECRRIQLL AYFGEKGFNP DFCKKYPDVS CDNCCKTKDY 

      1090       1100       1110       1120       1130       1140 
KTKDVTDDVK NIIRFVQEHS SSPGTRNIGP AGRFTLNMLV DIFLGSKSAK VKSGIFGKGT 

      1150       1160       1170       1180       1190       1200 
TYSRHNAERL FKKLILDKIL DEDLYINAND QPIAYVMLGT KAHSVLSGHL KVDFMETENS 

      1210       1220       1230       1240       1250       1260 
SSIKKQKALV AKVSQREEVV KKCLGELTEV CKLLGKVFGV HYFNIFNTAT LKKLAESLSS 

      1270       1280       1290       1300       1310       1320 
DPEVLLQIDG VTEDKLEKYG AEVIPVLQKY SEWTVPAEDG SPGARGAPED TEEEEEEAPV 

      1330       1340       1350       1360       1370       1380 
SSHYFANQTR NERKRKKMSA THKPKRRRTS YGGFRAKGGS TTCRKTTSKS KFYGVTGSRS 

      1390       1400       1410 
ASCASQATSS ASRKLGIMAP PKPVNRTFLR PSYAFS

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References

[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.
+	Additional computationally mapped references.

Cross-references

Sequence databases
EMBL GenBank DDBJ	Z98263 mRNA. Translation: CAB10933.1. AB008674 mRNA. Translation: BAA32001.1.
IPI	IPI00329943.
RefSeq	NP_001035992.1. NM_001042527.2. NP_031576.4. NM_007550.4.
UniGene	Mm.12932.
3D structure databases
ProteinModelPortal	O88700.
SMR	O88700. Positions 656-1183, 1205-1299.
ModBase	Search...
Protein-protein interaction databases
DIP	DIP-27643N.
PTM databases
PhosphoSite	O88700.
Proteomic databases
PaxDb	O88700.
PRIDE	O88700.
Protocols and materials databases
DNASU	12144.
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENSMUST00000081314; ENSMUSP00000080062; ENSMUSG00000030528.
GeneID	12144.
KEGG	mmu:12144.
UCSC	uc009iaw.2. mouse.
Organism-specific databases
CTD	641.
MGI	MGI:1328362. Blm.
Phylogenomic databases
eggNOG	COG0514.
GeneTree	ENSGT00550000074520.
HOGENOM	HOG000095239.
HOVERGEN	HBG004850.
InParanoid	O88700.
KO	K10901.
OrthoDB	EOG4640B3.
Enzyme and pathway databases
Reactome	REACT_120463. Meiosis. REACT_27235. Meiotic Recombination (mouse).
Gene expression databases
ArrayExpress	O88700.
Bgee	O88700.
CleanEx	MM_BLM.
Genevestigator	O88700.
GermOnline	ENSMUSG00000030528. Mus musculus.
Family and domain databases
Gene3D	1.10.10.10. 1 hit. 1.10.150.80. 1 hit.
InterPro	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. IPR018982. RQC_domain. IPR011991. WHTH_DNA-bd_dom. [Graphical view]
Pfam	PF08072. BDHCT. 1 hit. PF00270. DEAD. 1 hit. PF00271. Helicase_C. 1 hit. PF00570. HRDC. 1 hit. PF09382. RQC. 1 hit. [Graphical view]
SMART	SM00487. DEXDc. 1 hit. SM00490. HELICc. 1 hit. SM00341. HRDC. 1 hit. SM00956. RQC. 1 hit. [Graphical view]
SUPFAM	SSF47819. HRDC_like. 1 hit.
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
ChiTaRS	BLM. mouse.
NextBio	280473.
SOURCE	Search...

Entry information

Entry name

BLM_MOUSE

Accession

Primary (citable) accession number: O88700
Secondary accession number(s): O88198

Entry history

Integrated into UniProtKB/Swiss-Prot:	December 15, 1998
Last sequence update:	November 1, 1998
Last modified:	May 1, 2013
This is version 119 of the entry and version 1 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Relevant documents

MGD cross-references

Mouse Genome Database (MGD) cross-references in UniProtKB/Swiss-Prot

SIMILARITY comments

Index of protein domains and families

Names·Attributes·General annotation·Ontologies·Sequence annotation·Sequences·References·Cross-refs·Entry info·Documents

Preferred order of sections

Names and origin

Protein attributes

General annotation (Comments)

Ontologies

Sequence annotation (Features)

Molecule processing

Regions

Amino acid modifications

Experimental info

Sequences

References

Cross-references

Sequence databases

3D structure databases

Protein-protein interaction databases

PTM databases

Proteomic databases

Protocols and materials databases

Genome annotation databases

Organism-specific databases

Phylogenomic databases

Enzyme and pathway databases

Gene expression databases

Family and domain databases

Other

Entry information

Relevant documents