GenAge entry for BLM (Homo sapiens)

Gene name (HAGRID: 68)

HGNC symbol
BLM 
Aliases
BS; RECQL3; RECQ2 
Common name
Bloom syndrome, RecQ helicase-like 

Potential relevance to the human ageing process

Main reason for selection
Entry selected based on evidence linking the gene product to a pathway or mechanism linked to ageing
Description

BLM is a helicase involved in DNA repair and replication. Although Bloom syndrome is not considered accelerated ageing, BLM and WRN belong to the same family of proteins. Therefore, it is possible, even if unproven, that BLM plays a role in human ageing [444].

Cytogenetic information

Cytogenetic band
15q26.1
Location
90,717,326 bp to 90,815,462 bp
Orientation
Plus strand
Display region using the UCSC Genome Browser (GRCh38/hg38)

Protein information

Gene Ontology
Process: GO:0000079; regulation of cyclin-dependent protein serine/threonine kinase activity
GO:0000724; double-strand break repair via homologous recombination
GO:0000729; DNA double-strand break processing
GO:0000731; DNA synthesis involved in DNA repair
GO:0000732; strand displacement
GO:0000733; DNA strand renaturation
GO:0006260; DNA replication
GO:0006281; DNA repair
GO:0006310; DNA recombination
GO:0006974; cellular response to DNA damage stimulus
GO:0007095; mitotic G2 DNA damage checkpoint
And 14 more GO terms
Cellular component: GO:0000228; nuclear chromosome
GO:0000781; chromosome, telomeric region
GO:0000800; lateral element
GO:0005634; nucleus
GO:0005654; nucleoplasm
GO:0005730; nucleolus
GO:0005737; cytoplasm
GO:0016363; nuclear matrix
GO:0016605; PML body
Function: GO:0000405; bubble DNA binding
GO:0002039; p53 binding
GO:0003697; single-stranded DNA binding
GO:0004003; ATP-dependent DNA helicase activity
GO:0004386; helicase activity
GO:0005515; protein binding
GO:0005524; ATP binding
GO:0008026; ATP-dependent helicase activity
GO:0009378; four-way junction helicase activity
GO:0016887; ATPase activity
GO:0036310; annealing helicase activity
And 3 more GO terms
Show all GO terms

Protein interactions and network

Protein-protein interacting partners in GenAge
TP53, ATM, WRN, EGFR, NBN, PARP1, BRCA1, RPA1, BLM, VCP, HSP90AA1, TOP2A, RAD51, UBE2I, TERF1, FEN1, TERF2, SUMO1, H2AFX, ATR, MLH1, SIRT7, TP53BP1
STRING interaction network
Protein-Protein network diagram for BLM

Retrieve sequences for BLM

ORF
ORF
CDS
CDS

Homologs in model organisms

Danio rerio
blm
Drosophila melanogaster
mus309
Mus musculus
Blm
Rattus norvegicus
Blm
Schizosaccharomyces pombe
rqh1

In other databases

LongevityMap
  • This gene is present as BLM

Selected references

External links

EPD
ORF Accession
NM_000057
CDS Accession
NP_000048
OMIM
604610
HPRD
05211
Ensembl
BLM
UniProt/Swiss-Prot
BLM_HUMAN
GeneCards
BLM
Entrez Gene
641
UniGene
169348
GenAtlas
BLM
Internet
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