Blm
Gene Detail

Symbol Name ID

Blm Bloom syndrome, RecQ helicase-like MGI:1328362

Feature Type

protein coding gene

Genetic Map

Chromosome 7

45.65 cM
Detailed Genetic Map ± 1 cM


Mapping data(2)

Sequence Map

Chr7:80454993-80535119 bp, - strand From NCBI annotation of GRCm38   80127 bp   ±  kb flank VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer

Mouse Genome Browser

Vertebrate homology

HomoloGene:47902  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 cattle; 1 dog; 1 chicken; 1 zebrafish

Gene Tree: Blm

Human homologs

Human Homolog		BLM, Bloom syndrome, RecQ helicase-like
NCBI Gene ID		641
neXtProt AC		NX_P54132
Human Synonyms		BS, RECQ2, RECQL2, RECQL3
Human Chr (Location)		15q26.1; chr15:91260579-91358686 (+)  GRCh37.p10
Disease Associations		(1) Diseases Associated with Human BLM

Alleles and phenotypes

All alleles(63) : Targeted(8) Gene trapped(55)
 

Homozygous null mutants are developmentally delayed, with increased apopotosis in the epiblast and severe anemia, dying at embyronic day 13.5; but homozygotes for a cre mediated recombinant allele are viable Bloom syndrome-like mice prone to a wide variety of cancers and showing increased rates of LOH.

 
Human Diseases Modeled Using Mouse Blm (1)    Alleles Annotated to Human Diseases(4)   

Gene Ontology (GO) classifications

All GO classifications: (60 annotations)

Process	alpha-beta T cell differentiation, ATP catabolic process, ...
Component	chromosome, telomeric region, cytoplasm, ...
Function	annealing helicase activity, ATPase activity, ...

This is a GO Consortium Reference Genome Project gene.
External Resources: FuncBase

Expression

Literature Summary: (3 records)
Data Summary: Results (51)    Tissues (22)   
Theiler Stages: 15, 17, 19, 20, 21, 24, 28

Assay Type	Results
Northern blot	20
Western blot	23
RT-PCR	8

cDNA source data(100)
External Resources: Allen Institute   GEO   ArrayExpress

Molecular reagents

All nucleic(103) Genomic(1) cDNA(100) Primer pair(2)
Microarray probesets(3)

Other database links

Ensembl Gene Model	ENSMUSG00000030528 (Evidence)
Entrez Gene	12144 (Evidence)
UniGene	12932
DFCI	TC1577362
DoTS	DT.101186485, DT.101380515, DT.111012776, DT.40183800, DT.94257097
NIA Mouse Gene Index	U028766
EC	3.6.4.12
Consensus CDS Project	CCDS40000.1, CCDS52281.1
International Mouse Knockout Project Status	Blm

Sequences

Length	Strain/Species
genomic	12144	NCBI Gene Model | MGI Sequence Detail	80127	C57BL/6J
transcript	NM_007550	RefSeq | MGI Sequence Detail	4869	C57BL/6
polypeptide	O88700	UniProt | EBI | MGI Sequence Detail	1416	Not Applicable

All sequences(29) RefSeq(4) UniProt(2)

Polymorphisms

RFLP(2) : SNPs(452 from dbSNP Build 128)

Protein-related information

Resource	ID	Description
InterPro	IPR012532	BDHCT
InterPro	IPR004589	DNA helicase, ATP-dependent, RecQ type
InterPro	IPR002464	DNA/RNA helicase, ATP-dependent, DEAH-box type, conserved site
InterPro	IPR011545	DNA/RNA helicase, DEAD/DEAH box type, N-terminal
InterPro	IPR001650	Helicase, C-terminal
InterPro	IPR002121	Helicase/RNase D C-terminal, HRDC domain
InterPro	IPR014001	Helicase, superfamily 1/2, ATP-binding domain
InterPro	IPR010997	HRDC-like
InterPro	IPR018982	RQC domain
Protein Ontology	PR:000004759	bloom syndrome protein

Graphical View of Protein Domain Structure

References

(Earliest) J:48817 Seki T, et al., 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. Biochim Biophys Acta. 1998 Jul 9;1398(3):377-81
(Latest) J:191013 Schlacher K, et al., A distinct replication fork protection pathway connects Fanconi anemia tumor suppressors to RAD51-BRCA1/2. Cancer Cell. 2012 Jul 10;22(1):106-16
All references(61)