FANCI
entrez
55215
canonical
uniprot
Q9NVI1
canonical
ensembl
ENSG00000140525
resolver
ensp
ENSP00000300027
resolver
ensp
ENSP00000310842
resolver
ensp
ENSP00000502254
resolver
ensp
ENSP00000512830
resolver
ensp
ENSP00000556507
resolver
ensp
ENSP00000556509
resolver
ensp
ENSP00000556512
resolver
ensp
ENSP00000556518
resolver
ensp
ENSP00000556520
resolver
ensp
ENSP00000556527
resolver
ensp
ENSP00000610848
resolver
ensp
ENSP00000610852
resolver
ensp
ENSP00000610853
resolver
ensp
ENSP00000610854
resolver
ensp
ENSP00000610855
resolver
ensp
ENSP00000610862
resolver
ensp
ENSP00000610864
resolver
ensp
ENSP00000610865
resolver
ensp
ENSP00000610866
resolver
ensp
ENSP00000610867
resolver
ensp
ENSP00000610871
resolver
ensp
ENSP00000610872
resolver
ensp
ENSP00000610874
resolver
ensp
ENSP00000610875
resolver
ensp
ENSP00000610878
resolver
ensp
ENSP00000610879
resolver
ensp
ENSP00000610881
resolver
ensp
ENSP00000610886
resolver
ensp
ENSP00000610888
resolver
ensp
ENSP00000610889
resolver
enst
ENST00000676003
resolver
enst
ENST00000696717
resolver
enst
ENST00000886447
resolver
enst
ENST00000886468
resolver
enst
ENST00000940793
resolver
enst
ENST00000940807
resolver
enst
ENST00000940812
resolver
enst
ENST00000940816
resolver
genesymbol
FANCI
resolver
genesymbol_syn
KIAA1794
resolver
hgnc
HGNC:25568
resolver
uniprot
A0A6Q8PGF4
resolver
uniprot
A0A8Q3SIW9
resolver
uniprot
A4ZVE4
resolver
uniprot
A5YMH4
resolver
uniprot
A6NJZ0
resolver
uniprot
B3KNW8
resolver
uniprot
Q96JN1
resolver
uniprot
Q96ST0
resolver
uniprot
Q9BT96
resolver
uniprot_entry
A0A6Q8PGF4_HUMAN
resolver
uniprot_entry
A0A8Q3SIW9_HUMAN
resolver
uniprot_entry
B3KNW8_HUMAN
resolver
uniprot_entry
FANCI_HUMAN
resolver
uniprot_sec
A4ZVE4
resolver
uniprot_sec
A5YMH4
resolver
uniprot_sec
A6NJZ0
resolver
uniprot_sec
Q96JN1
resolver
uniprot_sec
Q96ST0
resolver
uniprot_sec
Q9BT96
resolver
amino_acid_sequence
MDQKILSLAAEKTADKLQEFLQTLREGDLTNLLQNQAVKGKVAGALLRAIFKGSPCSEEAGTLRRRKIYTCCIQLVESGDLQKEIASEIIGLLMLEAHHFPGPLLVELANEFISAVREGSLVNGKSLELLPIILTALATKKENLAYGKGVLSGEECKKQLINTLCSGRWDQQYVIQLTSMFKDVPLTAEEVEFVVEKALSMFSKMNLQEIPPLVYQLLVLSSKGSRKSVLEGIIAFFSALDKQHNEEQSGDELLDVVTVPSGELRHVEGTIILHIVFAIKLDYELGRELVKHLKVGQQGDSNNNLSPFSIALLLSVTRIQRFQDQVLDLLKTSVVKSFKDLQLLQGSKFLQNLVPHRSYVSTMILEVVKNSVHSWDHVTQGLVELGFILMDSYGPKKVLDGKTIETSPSLSRMPNQHACKLGANILLETFKIHEMIRQEILEQVLNRVVTRASSPISHFLDLLSNIVMYAPLVLQSCSSKVTEAFDYLSFLPLQTVQRLLKAVQPLLKVSMSMRDCLILVLRKAMFANQLDARKSAVAGFLLLLKNFKVLGSLSSSQCSQSLSVSQVHVDVHSHYNSVANETFCLEIMDSLRRCLSQQADVRLMLYEGFYDVLRRNSQLANSVMQTLLSQLKQFYEPKPDLLPPLKLEACILTQGDKISLQEPLDYLLCCIQHCLAWYKNTVIPLQQGEEEEEEEEAFYEDLDDILESITNRMIKSELEDFELDKSADFSQSTSIGIKNNICAFLVMGVCEVLIEYNFSISSFSKNRFEDILSLFMCYKKLSDILNEKAGKAKTKMANKTSDSLLSMKFVSSLLTALFRDSIQSHQESLSVLRSSNEFMRYAVNVALQKVQQLKETGHVSGPDGQNPEKIFQNLCDITRVLLWRYTSIPTSVEESGKKEKGKSISLLCLEGLQKIFSAVQQFYQPKIQQFLRALDVTDKEGEEREDADVSVTQRTAFQIRQFQRSLLNLLSSQEEDFNSKEALLLVTVLTSLSKLLEPSSPQFVQMLSWTSKICKENSREDALFCKSLMNLLFSLHVSYKSPVILLRDLSQDIHGHLGDIDQDVEVEKTNHFAIVNLRTAAPTVCLLVLSQAEKVLEEVDWLITKLKGQVSQETLSEEASSQATLPNQPVEKAIIMQLGTLLTFFHELVQTALPSGSCVDTLLKDLCKMYTTLTALVRYYLQVCQSSGGIPKNMEKLVKLSGSHLTPLCYSFISYVQNKSKSLNYTGEKKEKPAAVATAMARVLRETKPIPNLIFAIEQYEKFLIHLSKKSKVNLMQHMKLSTSRDFKIKGNILDMVLREDGEDENEEGTASEHGGQNKEPAKKKRKK
uniprot
proteins
disease_involvement
DISEASE: 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. {ECO:0000269|PubMed:17412408, ECO:0000269|PubMed:17452773, ECO:0000269|PubMed:17460694}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
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 (PubMed:17412408, PubMed:17460694, PubMed:17452773, PubMed:19111657, PubMed:36385258). The FANCI-FANCD2 complex binds and scans double-stranded DNA (dsDNA) for DNA damage; this complex stalls at DNA junctions between double-stranded DNA and single-stranded DNA (PubMed:19589784). Participates in S phase and G2 phase checkpoint activation upon DNA damage (PubMed:25862789). {ECO:0000250|UniProtKB:B0I564, ECO:0000269|PubMed:17412408, ECO:0000269|PubMed:17452773, ECO:0000269|PubMed:17460694, ECO:0000269|PubMed:19111657, ECO:0000269|PubMed:19589784, ECO:0000269|PubMed:25862789, ECO:0000269|PubMed:36385258}.
uniprot
proteins
mass_dalton
149324
uniprot
proteins
mutagenesis
MUTAGEN 523; /note="K->R: Abolishes monoubiquitination by FANCL and UBE2T."; /evidence="ECO:0000269|PubMed:19589784
uniprot
proteins
post_translational_modification
PTM: Monoubiquitinated by FANCL on Lys-523 during S phase and upon genotoxic stress (PubMed:17412408, PubMed:17460694, PubMed:19589784, PubMed:36385258). Deubiquitinated by USP1 as cells enter G2/M, or once DNA repair is completed (PubMed:36385258). Monoubiquitination requires the FANCA-FANCB-FANCC-FANCE-FANCF-FANCG-FANCM complex (PubMed:17412408, PubMed:17460694). Ubiquitination is required for binding to chromatin, DNA repair, and normal cell cycle progression (PubMed:36385258). Monoubiquitination is stimulated by DNA-binding (PubMed:36385258). {ECO:0000269|PubMed:17412408, ECO:0000269|PubMed:17460694, ECO:0000269|PubMed:19589784, ECO:0000269|PubMed:36385258}.; PTM: Phosphorylated in response to DNA damage by ATM and/or ATR (PubMed:17412408). Phosphorylation of FANCI promotes ubiquitination of FANCD2, which prevents DNA release from the FANCI-FANCD2 complex (By similarity). {ECO:0000250|UniProtKB:B0I564, ECO:0000269|PubMed:17412408}.
uniprot
proteins
protein_family
Fanconi anemia group I protein family
uniprot
proteins
pubmed
11347906
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16572171
uniprot
proteins
pubmed
16964243
uniprot
proteins
pubmed
17412408
uniprot
proteins
pubmed
17452773
uniprot
proteins
pubmed
17460694
uniprot
proteins
pubmed
17525332
uniprot
proteins
pubmed
18445686
uniprot
proteins
pubmed
18669648
uniprot
proteins
pubmed
18691976
uniprot
proteins
pubmed
19111657
uniprot
proteins
pubmed
19465922
uniprot
proteins
pubmed
19589784
uniprot
proteins
pubmed
19995904
uniprot
proteins
pubmed
20068231
uniprot
proteins
pubmed
20603015
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
21775430
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
25862789
uniprot
proteins
pubmed
36385258
uniprot
proteins
sequence_length
1328
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:17412408, ECO:0000269|PubMed:17460694, ECO:0000269|PubMed:19465922}. Cytoplasm {ECO:0000269|PubMed:18445686}. 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.
uniprot
proteins