AAI44484.1
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UniProt Secondary Accession #
UniProt Related Accession #
NCBI Official Full Name
Fanconi anemia, complementation group I
NCBI Official Synonym Full Names
Fanconi anemia, complementation group I
NCBI Official Synonym Symbols
NCBI Protein Information
Fanconi anemia group I protein
UniProt Protein Name
Fanconi anemia group I protein
UniProt Synonym Gene Names
UniProt Entry Name
FANCI_HUMAN
NCBI Summary for FANCI
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 I. Alternative splicing results in two transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]
UniProt Comments for FANCI
FANCI: 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. Defects in FANCI are a cause of Fanconi anemia complementation group I (FANCI). 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. 4 isoforms of the human protein are produced by alternative splicing.
Protein type: DNA repair, damage; Cell cycle regulation
Chromosomal Location of Human Ortholog: 15q26.1
Cellular Component: nucleoplasm; membrane; cytoplasm; plasma membrane; nucleus
Molecular Function: protein binding; DNA binding
Biological Process: positive regulation of protein ubiquitination; DNA repair; cell cycle
Disease: Fanconi Anemia, Complementation Group I; Tracheoesophageal Fistula With Or Without Esophageal Atresia
Research Articles on FANCI
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Products associated with anti-FANCI antibody
Pathways associated with anti-FANCI antibody
Diseases associated with anti-FANCI antibody
Organs/Tissues associated with anti-FANCI antibody
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