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Gene: BLM (BLM RecQ like helicase) Homo sapiens
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Symbol: BLM
Name: BLM RecQ like helicase
Description: Exhibits several functions, including ATP binding activity; DNA binding activity; and nucleoside-triphosphatase activity. Involved in several processes, including DNA geometric change; DNA metabolic process; and regulation of cellular macromolecule biosynthetic process. Localizes to cytosol; nuclear lumen; and protein-containing complex. Colocalizes with chromosome, telomeric region. Implicated in Bloom syndrome.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: Bloom syndrome protein; Bloom syndrome RecQ like helicase; Bloom syndrome, RecQ helicase-like; BS; DNA helicase, RecQ-like type 2; MGC126616; MGC131618; MGC131620; MGRISCE1; recQ protein-like 3; RECQ2; RECQL2; RECQL3
Orthologs:
Mus musculus (house mouse) : Blm (Bloom syndrome, RecQ like helicase)  MGI  Alliance
Rattus norvegicus (Norway rat) : Blm (BLM RecQ like helicase)  Alliance
Chinchilla lanigera (long-tailed chinchilla) : Blm (BLM RecQ like helicase)
Pan paniscus (bonobo/pygmy chimpanzee) : BLM (BLM RecQ like helicase)
Canis lupus familiaris (dog) : BLM (BLM RecQ like helicase)
Ictidomys tridecemlineatus (thirteen-lined ground squirrel) : Blm (BLM RecQ like helicase)
Sus scrofa (pig) : BLM (BLM RecQ like helicase)
Chlorocebus sabaeus (African green monkey) : BLM (BLM RecQ like helicase)
Heterocephalus glaber (naked mole-rat) : Blm (BLM RecQ like helicase)
more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38 Ensembl1590,717,346 - 90,816,166 (+)EnsemblGRCh38hg38GRCh38
GRCh381590,717,346 - 90,816,166 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh371591,260,579 - 91,358,686 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361589,061,583 - 89,159,690 (+)NCBINCBI36hg18NCBI36
Build 341589,061,605 - 89,159,601NCBI
Celera1567,669,191 - 67,767,281 (+)NCBI
Cytogenetic Map15q26.1NCBI
HuRef1567,371,963 - 67,470,518 (+)NCBIHuRef
CHM1_11591,102,285 - 91,200,349 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations
Gene-Chemical Interaction Annotations