FANCC
entrez
2176
canonical
uniprot
Q00597
canonical
ensembl
ENSG00000158169
resolver
ensp
ENSP00000289081
resolver
ensp
ENSP00000364454
resolver
ensp
ENSP00000479931
resolver
ensp
ENSP00000497630
resolver
ensp
ENSP00000497729
resolver
ensp
ENSP00000533648
resolver
ensp
ENSP00000533649
resolver
ensp
ENSP00000533650
resolver
ensp
ENSP00000533651
resolver
ensp
ENSP00000589141
resolver
ensp
ENSP00000714658
resolver
ensp
ENSP00000780029
resolver
enst
ENST00000289081
resolver
enst
ENST00000375305
resolver
enst
ENST00000474949
resolver
enst
ENST00000490972
resolver
enst
ENST00000649519
resolver
enst
ENST00000863590
resolver
enst
ENST00000863591
resolver
enst
ENST00000863592
resolver
enst
ENST00000919082
resolver
genesymbol
FANCC
resolver
genesymbol_syn
FAC
resolver
genesymbol_syn
FACC
resolver
hgnc
HGNC:3584
resolver
uniprot
A0A024R9N2
resolver
uniprot
A0A087WW44
resolver
uniprot
A0A3B3ISW4
resolver
uniprot
B1ALR8
resolver
uniprot
B4E3W2
resolver
uniprot_entry
A0A024R9N2_HUMAN
resolver
uniprot_entry
A0A087WW44_HUMAN
resolver
uniprot_entry
A0A3B3ISW4_HUMAN
resolver
uniprot_entry
B4E3W2_HUMAN
resolver
uniprot_entry
FANCC_HUMAN
resolver
uniprot_sec
B1ALR8
resolver
amino_acid_sequence
MAQDSVDLSCDYQFWMQKLSVWDQASTLETQQDTCLHVAQFQEFLRKMYEALKEMDSNTVIERFPTIGQLLAKACWNPFILAYDESQKILIWCLCCLINKEPQNSGQSKLNSWIQGVLSHILSALRFDKEVALFTQGLGYAPIDYYPGLLKNMVLSLASELRENHLNGFNTQRRMAPERVASLSRVCVPLITLTDVDPLVEALLICHGREPQEILQPEFFEAVNEAILLKKISLPMSAVVCLWLRHLPSLEKAMLHLFEKLISSERNCLRRIECFIKDSSLPQAACHPAIFRVVDEMFRCALLETDGALEIIATIQVFTQCFVEALEKASKQLRFALKTYFPYTSPSLAMVLLQDPQDIPRGHWLQTLKHISELLREAVEDQTHGSCGGPFESWFLFIHFGGWAEMVAEQLLMSAAEPPTALLWLLAFYYGPRDGRQQRAQTMVQVKAVLGHLLAMSRSSSLSAQDLQTVAGQGTDTDLRAPAQQLIRHLLLNFLLWAPGGHTIAWDVITLMAHTAEITHEIIGFLDQTLYRWNRLGIESPRSEKLARELLKELRTQV
uniprot
proteins
disease_involvement
DISEASE: Fanconi anemia complementation group C (FANCC) [MIM:227645]: 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:11520787, ECO:0000269|PubMed:15299030, ECO:0000269|PubMed:1574115, ECO:0000269|PubMed:8128956, ECO:0000269|PubMed:8499901, ECO:0000269|PubMed:8844212, ECO:0000269|PubMed:9242535}. 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. Upon IFNG induction, may facilitate STAT1 activation by recruiting STAT1 to IFNGR1. {ECO:0000269|PubMed:11520787}.
uniprot
proteins
mass_dalton
63429
uniprot
proteins
mutagenesis
MUTAGEN 64; /note="F->A: No loss of protection from cross-linking agent-induced toxicity. No effect on IFNG-induced STAT1-binding."; /evidence="ECO:0000269|PubMed:11520787"; MUTAGEN 66; /note="T->A: No effect on protective function from mitomycin C-genotoxicity."; /evidence="ECO:0000269|PubMed:11520787"; MUTAGEN 249; /note="S->A: No effect on protective function from mitomycin C-genotoxicity. Loss of IFNG-induced STAT1-binding."; /evidence="ECO:0000269|PubMed:11520787"; MUTAGEN 251; /note="E->A: No effect on protective function from mitomycin C-genotoxicity. Loss of IFNG-induced STAT1-binding."; /evidence="ECO:0000269|PubMed:11520787"; MUTAGEN 529; /note="T->A: No effect on protective function from mitomycin C-genotoxicity."; /evidence="ECO:0000269|PubMed:11520787"; MUTAGEN 531; /note="Y->A: No effect on protective function from mitomycin C-genotoxicity. No effect on IFNG-induced STAT1-binding."; /evidence="ECO:0000269|PubMed:11520787
uniprot
proteins
pubmed
10572087
uniprot
proteins
pubmed
11520787
uniprot
proteins
pubmed
12724401
uniprot
proteins
pubmed
15164053
uniprot
proteins
pubmed
15299030
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15502827
uniprot
proteins
pubmed
1574115
uniprot
proteins
pubmed
16116422
uniprot
proteins
pubmed
1641028
uniprot
proteins
pubmed
22266823
uniprot
proteins
pubmed
7517562
uniprot
proteins
pubmed
8058745
uniprot
proteins
pubmed
8128956
uniprot
proteins
pubmed
8348157
uniprot
proteins
pubmed
8490620
uniprot
proteins
pubmed
8499901
uniprot
proteins
pubmed
8844212
uniprot
proteins
pubmed
9242535
uniprot
proteins
sequence_length
558
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Nucleus. Cytoplasm. Note=The major form is nuclear. The minor form is cytoplasmic.
uniprot
proteins