FANCF
entrez
2188
canonical
uniprot
Q9NPI8
canonical
ensembl
ENSG00000183161
resolver
ensp
ENSP00000330875
resolver
enst
ENST00000327470
resolver
genesymbol
FANCF
resolver
hgnc
HGNC:3587
resolver
uniprot
A3KME0
resolver
uniprot
Q52LM0
resolver
uniprot_entry
A3KME0_HUMAN
resolver
uniprot_entry
FANCF_HUMAN
resolver
uniprot_sec
Q52LM0
resolver
amino_acid_sequence
MESLLQHLDRFSELLAVSSTTYVSTWDPATVRRALQWARYLRHIHRRFGRHGPIRTALERRLHNQWRQEGGFGRGPVPGLANFQALGHCDVLLSLRLLENRALGDAARYHLVQQLFPGPGVRDADEETLQESLARLARRRSAVHMLRFNGYRENPNLQEDSLMKTQAELLLERLQEVGKAEAERPARFLSSLWERLPQNNFLKVIAVALLQPPLSRRPQEELEPGIHKSPGEGSQVLVHWLLGNSEVFAAFCRALPAGLLTLVTSRHPALSPVYLGLLTDWGQRLHYDLQKGIWVGTESQDVPWEELHNRFQSLCQAPPPLKDKVLTALETCKAQDGDFEVPGLSIWTDLLLALRSGAFRKRQVLGLSAGLSSV
uniprot
proteins
disease_involvement
DISEASE: Fanconi anemia complementation group F (FANCF) [MIM:603467]: 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. {ECO:0000269|PubMed:10615118}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: DNA repair protein that may operate in a postreplication repair or a cell cycle checkpoint function. May be implicated in interstrand DNA cross-link repair and in the maintenance of normal chromosome stability (By similarity). {ECO:0000250}.
uniprot
proteins
mass_dalton
42254
uniprot
proteins
mutagenesis
MUTAGEN 209; /note="L->R: Reduced monoubiquitination of FANCD2."; /evidence="ECO:0000269|PubMed:17082180"; MUTAGEN 251; /note="F->R: Reduced monoubiquitination of FANCD2."; /evidence="ECO:0000269|PubMed:17082180"; MUTAGEN 287; /note="Y->A: Strongly reduced monoubiquitination of FANCD2; when associated with A-289; A-339; A-341 and A-344."; /evidence="ECO:0000269|PubMed:17082180"; MUTAGEN 289; /note="L->A: Strongly reduced monoubiquitination of FANCD2; when associated with A-287; A-339; A-341 and A-344."; /evidence="ECO:0000269|PubMed:17082180"; MUTAGEN 339; /note="F->A: Strongly reduced monoubiquitination of FANCD2; when associated with A-287; A-289; A-341 and A-344."; /evidence="ECO:0000269|PubMed:17082180"; MUTAGEN 341; /note="V->A: Strongly reduced monoubiquitination of FANCD2; when associated with A-287; A-289; A-339 and A-344."; /evidence="ECO:0000269|PubMed:17082180"; MUTAGEN 344; /note="L->A: Strongly reduced monoubiquitination of FANCD2; when associated with A-287; A-289; A-339 and A-341."; /evidence="ECO:0000269|PubMed:17082180
uniprot
proteins
pubmed
10615118
uniprot
proteins
pubmed
11063725
uniprot
proteins
pubmed
12724401
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15502827
uniprot
proteins
pubmed
16116422
uniprot
proteins
pubmed
17082180
uniprot
proteins
pubmed
18550849
uniprot
proteins
sequence_length
374
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:11063725, ECO:0000269|PubMed:18550849}.
uniprot
proteins