Tissue Specificity | Expressed in germ cells of fetal and adult ovaries. In fetal ovaries, it is present in oogonia but expression is stronger in pachytene stage oocytes. Expressed in oocytes arrested at the diplotene stage of prophase I during the last trimester of pregnancy and in adults. Expressed in the testis. |
Post Translational Modifications | Phosphorylated.hyperphosphorylated in response to genotoxic stress. |
Function | DNA-dependent ATPase component of the Fanconi anemia (FA) core complex. 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. In complex with CENPS and CENPX, binds double-stranded DNA (dsDNA), fork-structured DNA (fsDNA) and Holliday junction substrates. 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. In complex with FAAP24, efficiently binds to single-strand DNA (ssDNA), splayed-arm DNA, and 3'-flap substrates. In vitro, on its own, strongly binds ssDNA oligomers and weakly fsDNA, but does not bind to dsDNA. |
Protein Name | Fanconi Anemia Group M ProteinProtein FacmAtp-Dependent Rna Helicase FancmFanconi Anemia-Associated Polypeptide Of 250 KdaFaap250Protein Hef Ortholog |
Database Links | Reactome: R-HSA-6783310Reactome: R-HSA-9833482 |
Cellular Localisation | Nucleus |
Alternative Antibody Names | Anti-Fanconi Anemia Group M Protein antibodyAnti-Protein Facm antibodyAnti-Atp-Dependent Rna Helicase Fancm antibodyAnti-Fanconi Anemia-Associated Polypeptide Of 250 Kda antibodyAnti-Faap250 antibodyAnti-Protein Hef Ortholog antibodyAnti-FANCM antibodyAnti-KIAA1596 antibody |
Information sourced from Uniprot.org