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Gene Info

Gene Information For:Hs. BLM, Bloom syndrome, RecQ helicase-like
Sequence ID:NM_000057
RefSeqGene ID:NG_007272
Entrez Gene ID:641
Ensembl ID:ENSG00000197299

Database Links

UniGeneEntrez GeneOMIMEnsembl GeneHPRDVegaSNPSNP: GeneViewSNP: VarViewAssembliesCancer Aberrations

Gene Expression Data


Associated Diseases (from OMIM)

DiseaseOther Genes
BLOOM SYNDROME 

Cytogenetic Location (from UniGene)

Cytogenetic Location:15q26.1Mitelman Breakpoint Data

Chromosomal Position (from UCSC)

Chromosomal Position:15: 91293245 - 91358576

 Exon Info From UCSC:
NM_000057

Full-Length MGC Clones for This Gene

IMAGE IdStatusAccession GenBank Def Line
7939467Full LengthBC093622Bloom syndrome
7961413Full LengthBC115030Bloom syndrome
7961425Full LengthBC115032Bloom syndrome
8069073Full LengthBC101567Bloom syndrome
9051783Full LengthBC143280Bloom syndrome
4699446IncompleteBC107423Bloom syndrome
6387202IncompleteBC062697Bloom syndrome

Protein Similarities Based on Shared Motif Content

Find gene products sharing protein motifs with:  NP_000048  

Protein Infomation

RefSeq
mRNAProteinSwissProtEnzymePfam
NM_000057 NP_000048 P54132 EC 3.6.4.12 DEAD
Helicase_C
HRDC
BDHCT

Related Sequences

 
mRNAGenPeptSwissProtEnzyme
U39817 AAA87850 P54132 EC 3.6.4.12
BC093622 AAH93622 P54132 EC 3.6.4.12
BC101567 AAI01568 P54132 EC 3.6.4.12
BC107423 AAI07424 Q3B7X0  
BC115030 AAI15031 P54132 EC 3.6.4.12
BC115032 AAI15033 P54132 EC 3.6.4.12
BC143280 AAI43281 B7ZKN7  
AK314262 BAG36927 B2RAN0  
AK295194 BAH12008 B7Z2X2  
AK303159 BAH13907 B7Z8C1  

Homologs (from HomoloGene)
Note: Both orthologs and paralogs are included.
Organism Symbol Protein Homolog Similarity
(% aa unchanged)
Organism Symbol Entrez
Gene
Gene Info Protein
H.sapiens BLM NP_000048 M.musculus Blm 12144 Gene Info NP_031576 78
R.norvegicus Blm 308755   NP_001100996 74
A.thaliana RECQI1 819743   NP_187225 44

Gene Ontology
Gene classification by the European Bioinformatics Institute, as recorded in GOA (GO Annotation@EBI)

NCI-Nature Pathway Interaction Database