BLM blocking peptide

BLM Immunizing Peptide

Cat. Num. AAA427775

• Gene Names: BLM; BS; RECQ2; RECQL2; RECQL3
• Reactivity: Tested: Human; Expected: Rat
• Synonyms: BLM; BLM Immunizing Peptide; Bloom syndrome protein antibody; Bloom syndrome; RecQ helicase-like antibody; BS antibody; MGC126616 antibody; MGC131618 antibody; MGC131620 antibody; RECQ2 antibody; RECQL2 antibody; RECQL3 antibody; BLM antibody; BLM blocking peptide

• Reactivity: Tested: Human; Expected: Rat
• Form/Format: 100ug of dried peptide
• Sequence: C-ESVVRESKSFTRST
• Sequence Length: 13

• Preparation and Storage: Shipped at ambient temperature, store at -20 degree C.

NCBI and Uniprot Product Information

• NCBI GI #: 4557365
• NCBI GeneID: 641
• NCBI Accession #: NP_000048.1
• NCBI GenBank Nucleotide #: NM_000057.2
• UniProt Accession #: P54132; Q52M96
• Molecular Weight: 159,000 Da
• NCBI Official Full Name: Bloom syndrome protein
• NCBI Official Synonym Full Names: Bloom syndrome, RecQ helicase-like
• NCBI Official Symbol: BLM
• NCBI Official Synonym Symbols: BS; RECQ2; RECQL2; RECQL3
• NCBI Protein Information: Bloom syndrome protein; recQ protein-like 3; DNA helicase, RecQ-like type 2
• UniProt Protein Name: Bloom syndrome protein
• Protein Family: Bloom syndrome protein
• UniProt Gene Name: BLM
• UniProt Synonym Gene Names: RECQ2; RECQL3; RecQ2
• UniProt Entry Name: BLM_HUMAN

NCBI Description

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 Description

Function: Participates in DNA replication and repair. Exhibits a magnesium-dependent ATP-dependent DNA-helicase activity that unwinds single- and double-stranded DNA in a 3'-5' direction. Involved in 5'-end resection of DNA during double-strand break (DSB) repair: unwinds DNA and recruits DNA2 which mediates the cleavage of 5'-ssDNA. Ref.2 Ref.8 Ref.20

Catalytic activity: ATP + H2O = ADP + phosphate.

Subunit structure: 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. This association could be a dynamic process changing throughout the cell cycle and within subnuclear domains. Interacts with ubiquitinated FANCD2. Interacts with RMI complex. Interacts directly with RMI1 component of RMI complex. Interacts with SUPV3L1. Ref.7 Ref.9 Ref.10 Ref.12 Ref.13 Ref.14 Ref.20

Subcellular location: Nucleus.

Post-translational modification: Phosphorylated in response to DNA damage. Phosphorylation requires the FANCA-FANCC-FANCE-FANCF-FANCG protein complex, as well as the presence of RMI1. Ref.7 Ref.9

Involvement in disease: Bloom syndrome (BLM) [MIM:210900]: An autosomal recessive disorder characterized by proportionate pre-and postnatal growth deficiency, sun-sensitive telangiectatic hypo-and hyperpigmented skin, predisposition to malignancy, and chromosomal instability.Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.1 Ref.6 Ref.21 Ref.22

Sequence similarities: Belongs to the helicase family. RecQ subfamily.Contains 1 helicase ATP-binding domain.Contains 1 helicase C-terminal domain.Contains 1 HRDC domain.