Tbio FANCM Fanconi anemia group M protein

Protein Summary

Description

DNA-dependent ATPase component of the Fanconi anemia (FA) core complex (PubMed:16116422). Required for the normal activation of the FA pathway, leading to monoubiquitination of the FANCI-FANCD2 complex in response to DNA damage, cellular resistance to DNA cross-linking drugs, and prevention of chromosomal breakage (PubMed:16116422, PubMed:19423727, PubMed:20347428, PubMed:20347429). In complex with CENPS and CENPX, binds double-stranded DNA (dsDNA), fork-structured DNA (fsDNA) and Holliday junction substrates (PubMed:20347428, PubMed:20347429). Its ATP-dependent DNA branch migration activity can process branched DNA structures such as a movable replication fork. This activity is strongly stimulated in the presence of CENPS and CENPX (PubMed:20347429). In complex with FAAP24, efficiently binds to single-strand DNA (ssDNA), splayed-arm DNA, and 3'-flap substrates (PubMed:17289582). In vitro, on its own, strongly binds ssDNA oligomers and weakly fsDNA, but does not bind to dsDNA (PubMed:16116434). 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 Accession IDs

• Q8IYD8
• B2RTQ9
• Q3YFH9
• Q8N9X6
• Q9HCH6
• Protein FACM

Gene Name

• FANCM

Ensembl ID

• ENST00000267430
• ENSP00000267430
• ENSG00000187790
• ENST00000542564
• ENSP00000442493
• ENST00000556036
• ENSP00000450596

Symbol

• KIAA1596
• POF15
• SPGF28
• FAAP250
• KIAA1596

Knowledge Table

Most Knowledge About	Knowledge Value (0 to 1 scale)
molecular function	0.97
protein domain	0.97
virus perturbation	0.95
transcription factor binding site profile	0.78
cell line	0.73

Protein Classes

PANTHER Classes

Protein / Nucleic Acid Binding / Nuclease / Fanconi Anemia Group M Protein

Protein / Nucleic Acid Binding / Helicase / Rna Helicase / Fanconi Anemia Group M Protein

Protein / Nucleic Acid Binding / Rna Binding Protein / Rna Helicase / Fanconi Anemia Group M Protein

DTO Classes

Protein / Enzyme / Helicase / Rna Helicase / Fanconi Anemia Group M Protein

IDG Development Level Summary

Tdark

These are targets about which virtually nothing is known. They do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 110.82   (req: < 5)

Gene RIFs: 56   (req: <= 3)

Antibodies: 183   (req: <= 50)

Tbio

These targets do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 110.82   (req: >= 5)

Gene RIFs: 56   (req: > 3)

Antibodies: 183   (req: > 50)

- OR - satisfy the following criterion:

Gene Ontology Terms: 8

Tchem

Target has at least one ChEMBL compound with an activity cutoff of < 30 nM - AND - satisfies the preceding conditions

Active Ligand: 0

Tclin

Target has at least one approved drug - AND - satisfies the preceding conditions

Active Drug: 0