ID:FACD2_MOUSE DESCRIPTION: RecName: Full=Fanconi anemia group D2 protein homolog; Short=Protein FACD2; FUNCTION: Required for maintenance of chromosomal stability. Promotes accurate and efficient pairing of homologs during meiosis. Involved in the repair of DNA double-strand breaks, both by homologous recombination and single-strand annealing. May participate in S phase and G2 phase checkpoint activation upon DNA damage. Plays a role in preventing breakage and loss of missegregating chromatin at the end of cell division, particularly after replication stress (By similarity). Promotes BRCA2/FANCD1 loading onto damaged chromatin. May also be involved in B-cell immunoglobulin isotype switching. SUBUNIT: Interacts directly with FANCE and FANCI. Interacts with USP1 and MEN1. The ubiquitinated form specifically interacts with BRCA1 and BLM. Both the nonubiquitinated and the monoubiquitinated forms interact with BRCA2; this interaction is mediated by phosphorylated FANCG and the complex also includes XCCR3 (By similarity). The ubiquitinated form specifically interacts with MTMR15/FAN1 (via UBZ-type zinc finger), leading to recruit MTMR15/FAN1 to sites of DNA damage. Interacts with DCLRE1B/Apollo (By similarity). SUBCELLULAR LOCATION: Nucleus (By similarity). Note=Concentrates in nuclear foci during S phase and upon genotoxic stress (By similarity). PTM: Monoubiquitinated on Lys-559 during S phase and upon genotoxic stress by FANCL in complex with E2 ligases UBE2T or UBE2W. Deubiquitinated by USP1 as cells enter G2/M, or once DNA repair is completed. Monoubiquitination requires the joint intervention of the FANC core complex, including FANCA, FANCB, FANCC, FANCE, FANCF, FANCG, FANCL and FANCM, and proteins involved in cell cycle checkpoints and DNA repair, including RPA1, ATR, CHEK1 and BRCA1. Ubiquitination is required for binding to chromatin, interaction with BRCA1, BRCA2 and MTMR15/FAN1, DNA repair, and normal cell cycle progression (By similarity). PTM: Phosphorylated on several sites including Ser-220 and Ser- 1399 in response to genotoxic stress (By similarity). DISRUPTION PHENOTYPE: Mice display delayed pre- and postnatal development, defects in germ-cell development, and increase incidence of microphthalmia and tumors of epithelial cell origin.
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
Protein Domain and Structure Information
Pfam Domains: PF14631 - Fanconi anaemia protein FancD2 nuclease
ModBase Predicted Comparative 3D Structure on Q80V62
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
BioCarta from NCI Cancer Genome Anatomy Project m_atrbrcaPathway - Role of BRCA1, BRCA2 and ATR in Cancer Susceptibility
Reactome (by CSHL, EBI, and GO)
Protein Q80V62 (Reactome details) participates in the following event(s):
R-MMU-6785594 FANCD2 binds FANCI R-MMU-6785342 FANCD2:FANCI complex and UBE2T bind ICL-DNA associated with the FA core complex R-MMU-6786171 FANCD2 deubiquitination by USP1:WDR48 R-MMU-6788385 The complex of ATR and ATRIP is recruited to ICL-DNA R-MMU-6785361 Monoubiquitination of FANCD2:FANCI R-MMU-6788392 ATR phosphorylates RPA2, FANCI, FANCD2 and FANCM at ICL-DNA R-MMU-6785732 DNA nucleases bind monoubiquitinated ID2 complex R-MMU-6786155 POLN binds ICL-DNA R-MMU-6783310 Fanconi Anemia Pathway R-MMU-73894 DNA Repair
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