ID:FANCI_HUMAN DESCRIPTION: RecName: Full=Fanconi anemia group I protein; Short=Protein FACI; FUNCTION: Plays an essential role in the repair of DNA double- strand breaks by homologous recombination and in the repair of interstrand DNA cross-links (ICLs) by promoting FANCD2 monoubiquitination by FANCL and participating in recruitment to DNA repair sites. Required for maintenance of chromosomal stability. Specifically binds branched DNA: binds both single- stranded DNA (ssDNA) and double-stranded DNA (dsDNA). Participates in S phase and G2 phase checkpoint activation upon DNA damage. SUBUNIT: Interacts with FANCD2; the interaction is direct. Interacts with FANCL. Interacts with MTMR15/FAN1. INTERACTION: Q9BXW9:FANCD2; NbExp=2; IntAct=EBI-1013291, EBI-359343; SUBCELLULAR LOCATION: Nucleus. Note=Observed in spots localized in pairs on the sister chromatids of mitotic chromosome arms and not centromeres, one on each chromatids. These foci coincide with common fragile sites. They are frequently interlinked through BLM- associated ultra-fine DNA bridges. DOMAIN: The C-terminal 30 residues are probably required for function in DNA repair. PTM: Monoubiquitinated by FANCL on Lys-523 during S phase and upon genotoxic stress. Deubiquitinated by USP1 as cells enter G2/M, or once DNA repair is completed. Monoubiquitination requires the FANCA-FANCB-FANCC-FANCE-FANCF-FANCG-FANCM complex. Ubiquitination is required for binding to chromatin, DNA repair, and normal cell cycle progression. Monoubiquitination is stimulated by DNA- binding. PTM: Phosphorylated in response to DNA damage by ATM and/or ATR. DISEASE: Defects in FANCI are a cause of Fanconi anemia complementation group I (FANCI) [MIM:609053]. 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. SEQUENCE CAUTION: Sequence=AAH04277.1; Type=Erroneous initiation; Note=Translation N-terminally extended; Sequence=BAA91770.1; Type=Erroneous initiation; Note=Translation N-terminally extended; Sequence=BAB55200.1; Type=Erroneous initiation; Note=Translation N-terminally extended; WEB RESOURCE: Name=Fanconi Anemia Mutation Database; URL="http://www.rockefeller.edu/fanconi/mutate/jumpi.html"; WEB RESOURCE: Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/FANCI";
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.
SCOP Domains: 48371 - ARM repeat 47928 - N-terminal domain of the delta subunit of the F1F0-ATP synthase 56574 - Serpins
ModBase Predicted Comparative 3D Structure on Q9NVI1
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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.
BC146804 - Homo sapiens cDNA clone IMAGE:8860323, containing frame-shift errors. AK055176 - Homo sapiens cDNA FLJ30614 fis, clone CTONG2001139. BC140769 - Homo sapiens Fanconi anemia, complementation group I, mRNA (cDNA clone MGC:176446 IMAGE:9021637), complete cds. BC144483 - Homo sapiens Fanconi anemia, complementation group I, mRNA (cDNA clone MGC:178027 IMAGE:9053010), complete cds. BC004277 - Homo sapiens Fanconi anemia, complementation group I, mRNA (cDNA clone IMAGE:3615489), complete cds. BC166621 - Synthetic construct Homo sapiens clone IMAGE:100066347, MGC:195484 Fanconi anemia, complementation group I (FANCI) mRNA, encodes complete protein. EF469766 - Homo sapiens Fanconi anemia complementation group I isoform 3 (FANCI) mRNA, complete cds, alternatively spliced. EF567077 - Homo sapiens Fanconi anemia complementation group I (FANCI) mRNA, complete cds. AK001581 - Homo sapiens cDNA FLJ10719 fis, clone NT2RP3001109. AK027564 - Homo sapiens cDNA FLJ14658 fis, clone NT2RP2002549. AB058697 - Homo sapiens mRNA for KIAA1794 protein, partial cds. BC021859 - Homo sapiens KIAA1794, mRNA (cDNA clone IMAGE:4993205). LF207730 - JP 2014500723-A/15233: Polycomb-Associated Non-Coding RNAs. JD048442 - Sequence 29466 from Patent EP1572962. JD408106 - Sequence 389130 from Patent EP1572962. JD545372 - Sequence 526396 from Patent EP1572962. JD420861 - Sequence 401885 from Patent EP1572962. LF368441 - JP 2014500723-A/175944: Polycomb-Associated Non-Coding RNAs. JD551393 - Sequence 532417 from Patent EP1572962. MA604018 - JP 2018138019-A/175944: Polycomb-Associated Non-Coding RNAs. MA443307 - JP 2018138019-A/15233: Polycomb-Associated Non-Coding RNAs.
Biochemical and Signaling Pathways
Reactome (by CSHL, EBI, and GO)
Protein Q9NVI1 (Reactome details) participates in the following event(s):
R-HSA-6785594 FANCD2 binds FANCI R-HSA-6785342 FANCD2:FANCI complex and UBE2T bind ICL-DNA associated with the FA core complex R-HSA-6786171 FANCD2 deubiquitination by USP1:WDR48 R-HSA-6788385 The complex of ATR and ATRIP is recruited to ICL-DNA R-HSA-6785361 Monoubiquitination of FANCD2:FANCI R-HSA-6788392 ATR phosphorylates RPA2, FANCI, FANCD2 and FANCM at ICL-DNA R-HSA-6785732 DNA nucleases bind monoubiquitinated ID2 complex R-HSA-6786155 POLN binds ICL-DNA R-HSA-6783310 Fanconi Anemia Pathway R-HSA-6796648 TP53 Regulates Transcription of DNA Repair Genes R-HSA-73894 DNA Repair R-HSA-3700989 Transcriptional Regulation by TP53 R-HSA-212436 Generic Transcription Pathway R-HSA-73857 RNA Polymerase II Transcription R-HSA-74160 Gene expression (Transcription)
US Server
Sequence and Links to Tools and Databases 
Common Gene Haplotype Alleles 
