FANCM blocking peptide

FANCM Blocking Peptide (C-Term)

• Gene Names: FANCM; FAAP250; KIAA1596
• Synonyms: FANCM; FANCM Blocking Peptide (C-Term); Fanconi anemia group M protein; Protein FACM; ATP-dependent RNA helicase FANCM; Fanconi anemia-associated polypeptide of 250 kDa; FAAP250; Protein Hef ortholog; KIAA1596; FANCM blocking peptide

• Specificity: The synthetic peptide sequence is selected from aa 1772-1783 of HUMAN FANCM
• Form/Format: Synthetic peptide was lyophilized with 100% acetonitrile and is supplied as a powder. Reconstitute with 0.1 ml DI water for a final concentration of 1 mg/ml.
• Sequence Length: 2048

• Cellular Location: Nucleus
• Preparation and Storage: Maintain refrigerated at 2-8 degree C for up to 6 months. For long term storage store at -20 degree C.

Related Product Information for FANCM blocking peptide

ATPase required for FANCD2 ubiquitination, a key reaction in DNA repair. Binds to ssDNA but not to dsDNA. Recruited to forks stalled by DNA interstrand cross-links, and required for cellular resistance to such lesions.

NCBI and Uniprot Product Information

• NCBI GI #: 78099254
• NCBI GeneID: 57697
• UniProt Accession #: Q8IYD8; Q3YFH9; Q8N9X6; Q9HCH6; B2RTQ9
• Molecular Weight: 229,281 Da
• NCBI Official Full Name: Fanconi anemia group M protein
• NCBI Official Synonym Full Names: Fanconi anemia complementation group M
• NCBI Official Symbol: FANCM
• NCBI Official Synonym Symbols: FAAP250; KIAA1596
• NCBI Protein Information: Fanconi anemia group M protein
• UniProt Protein Name: Fanconi anemia group M protein
• Protein Family: Fanconi anemia group M protein
• UniProt Gene Name: FANCM
• UniProt Synonym Gene Names: KIAA1596; Protein FACM; FAAP250
• UniProt Entry Name: FANCM_HUMAN

NCBI Description

The Fanconi anemia complementation group (FANC) currently includes FANCA, FANCB, FANCC, FANCD1 (also called BRCA2), FANCD2, FANCE, FANCF, FANCG, FANCI, FANCJ (also called BRIP1), FANCL, FANCM and FANCN (also called PALB2). The previously defined group FANCH is the same as FANCA. Fanconi anemia is a genetically heterogeneous recessive disorder characterized by cytogenetic instability, hypersensitivity to DNA crosslinking agents, increased chromosomal breakage, and defective DNA repair. The members of the Fanconi anemia complementation group do not share sequence similarity; they are related by their assembly into a common nuclear protein complex. This gene encodes the protein for complementation group M. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2015]

Uniprot Description

FANCM: ATPase required for FANCD2 ubiquitination, a key reaction in DNA repair. Binds to ssDNA but not to dsDNA. Recruited to forks stalled by DNA interstrand cross-links, and required for cellular resistance to such lesions. Defects in FANCM are a cause of Fanconi anemia complementation group M (FANCM). FANCM is a disorder affecting all bone marrow elements and resulting in anemia, leukopenia and thrombopenia. It is associated with cardiac, renal and limb malformations, dermal pigmentary changes, and a predisposition to the development of malignancies. At the cellular level it is associated with hypersensitivity to DNA-damaging agents, chromosomal instability (increased chromosome breakage) and defective DNA repair. Belongs to the DEAD box helicase family. DEAH subfamily. 2 isoforms of the human protein are produced by alternative splicing.

Protein type: Helicase; EC 3.6.4.13

Chromosomal Location of Human Ortholog: 14q21.2

Cellular Component: nucleoplasm

Molecular Function: chromatin binding; protein binding

Biological Process: replication fork processing; resolution of meiotic joint molecules as recombinants

Disease: Fanconi Anemia, Complementation Group M; Tracheoesophageal Fistula With Or Without Esophageal Atresia