NP_000048.1
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NCBI GenBank Nucleotide #
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UniProt Primary Accession #
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UniProt Secondary Accession #
UniProt Related Accession #
Molecular Weight
159,000 Da
NCBI Official Full Name
Bloom syndrome protein isoform 1
NCBI Official Synonym Full Names
Bloom syndrome RecQ like helicase
NCBI Protein Information
Bloom syndrome protein
UniProt Protein Name
Bloom syndrome protein
UniProt Synonym Protein Names
DNA helicase, RecQ-like type 2; RecQ2; RecQ protein-like 3
UniProt Synonym Gene Names
UniProt Entry Name
BLM_HUMAN
NCBI Summary for BLM
The Bloom syndrome gene product is related to the RecQ subset of DExH box-containing DNA helicases and has both DNA-stimulated ATPase and ATP-dependent DNA helicase activities. Mutations causing Bloom syndrome delete or alter helicase motifs and may disable the 3'-5' helicase activity. The normal protein may act to suppress inappropriate recombination. [provided by RefSeq, Jul 2008]
UniProt Comments for BLM
BLM: a magnesium-dependent ATP-dependent DNA-helicase that unwinds single- and double-stranded DNA in a 3'-5' direction. A member of the RecQ helicase family that is required for genome stability. Participates in DNA replication, recombination and repair. 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 which is a dynamic process changing throughout the cell cycle and within subnuclear domains. Interacts with ubiquitinated FANCD2.
Protein type: DNA repair, damage; DNA replication; EC 3.6.4.12; Helicase
Chromosomal Location of Human Ortholog: 15q26.1
Cellular Component: chromosome, telomeric region; cytoplasm; lateral element; nuclear chromosome; nuclear matrix; nucleolus; nucleoplasm; nucleus; PML body
Molecular Function: ATP binding; ATP-dependent 3'-5' DNA helicase activity; ATP-dependent DNA helicase activity; ATP-dependent helicase activity; ATPase activity; bubble DNA binding; four-way junction helicase activity; G-quadruplex DNA binding; helicase activity; p53 binding; protein binding; single-stranded DNA binding
Biological Process: DNA double-strand break processing; DNA replication; DNA synthesis during DNA repair; double-strand break repair via homologous recombination; mitotic cell cycle G2/M transition DNA damage checkpoint; negative regulation of cell division; negative regulation of DNA recombination; positive regulation of transcription, DNA-dependent; protein oligomerization; protein sumoylation; regulation of cyclin-dependent protein kinase activity; replication fork processing; response to DNA damage stimulus; response to X-ray; strand displacement
Disease: Bloom Syndrome
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Products associated with anti-BLM antibody
Pathways associated with anti-BLM antibody
Diseases associated with anti-BLM antibody
Organs/Tissues associated with anti-BLM antibody
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