FANCE
entrez
2178
canonical
uniprot
Q9HB96
canonical
ensembl
ENSG00000112039
resolver
ensp
ENSP00000229769
resolver
ensp
ENSP00000512511
resolver
ensp
ENSP00000512512
resolver
ensp
ENSP00000524716
resolver
ensp
ENSP00000524717
resolver
ensp
ENSP00000604328
resolver
ensp
ENSP00000604329
resolver
ensp
ENSP00000706210
resolver
enst
ENST00000229769
resolver
enst
ENST00000696264
resolver
enst
ENST00000696265
resolver
genesymbol
FANCE
resolver
genesymbol_syn
FACE
resolver
hgnc
HGNC:3586
resolver
uniprot
A0A8Q3WL50
resolver
uniprot
A0A8Q3WMB8
resolver
uniprot
A8K907
resolver
uniprot
Q4ZGH2
resolver
uniprot_entry
A0A8Q3WL50_HUMAN
resolver
uniprot_entry
A0A8Q3WMB8_HUMAN
resolver
uniprot_entry
FANCE_HUMAN
resolver
uniprot_sec
A8K907
resolver
uniprot_sec
Q4ZGH2
resolver
amino_acid_sequence
MATPDAGLPGAEGVEPAPWAQLEAPARLLLQALQAGPEGARRGLGVLRALGSRGWEPFDWGRLLEALCREEPVVQGPDGRLELKPLLLRLPRICQRNLMSLLMAVRPSLPESGLLSVLQIAQQDLAPDPDAWLRALGELLRRDLGVGTSMEGASPLSERCQRQLQSLCRGLGLGGRRLKSPQAPDPEEEENRDSQQPGKRRKDSEEEAASPEGKRVPKRLRCWEEEEDHEKERPEHKSLESLADGGSASPIKDQPVMAVKTGEDGSNLDDAKGLAESLELPKAIQDQLPRLQQLLKTLEEGLEGLEDAPPVELQLLHECSPSQMDLLCAQLQLPQLSDLGLLRLCTWLLALSPDLSLSNATVLTRSLFLGRILSLTSSASRLLTTALTSFCAKYTYPVCSALLDPVLQAPGTGPAQTELLCCLVKMESLEPDAQVLMLGQILELPWKEETFLVLQSLLERQVEMTPEKFSVLMEKLCKKGLAATTSMAYAKLMLTVMTKYQANITETQRLGLAMALEPNTTFLRKSLKAALKHLGP
uniprot
proteins
disease_involvement
DISEASE: Fanconi anemia complementation group E (FANCE) [MIM:600901]: 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:11001585, ECO:0000269|PubMed:17924555}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: As part of the Fanconi anemia (FA) complex functions in DNA cross-links repair. Required for the nuclear accumulation of FANCC and provides a critical bridge between the FA complex and FANCD2. {ECO:0000269|PubMed:12093742, ECO:0000269|PubMed:17296736}.
uniprot
proteins
mass_dalton
58711
uniprot
proteins
mutagenesis
MUTAGEN 346; /note="T->A: Non-phosphorylatable by CHEK1, not polyubiquitinated and unable to complement the mitomycin C hypersensitivity of cells lacking FANCE; when associated with A-374."; /evidence="ECO:0000269|PubMed:17296736"; MUTAGEN 374; /note="S->A: Non-phosphorylatable by CHEK1, not polyubiquitinated and unable to complement the mitomycin C hypersensitivity of cells lacking FANCE; when associated with A-346."; /evidence="ECO:0000269|PubMed:17296736
uniprot
proteins
post_translational_modification
PTM: Phosphorylated. Phosphorylation by CHEK1 at Thr-346 and Ser-374 regulates its function in DNA cross-links repair. {ECO:0000269|PubMed:17296736}.; PTM: Ubiquitinated. Phosphorylation by CHEK1 induces polyubiquitination and degradation. {ECO:0000269|PubMed:17296736}.
uniprot
proteins
pubmed
11001585
uniprot
proteins
pubmed
12093742
uniprot
proteins
pubmed
12649160
uniprot
proteins
pubmed
12724401
uniprot
proteins
pubmed
14574404
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15502827
uniprot
proteins
pubmed
16116422
uniprot
proteins
pubmed
17296736
uniprot
proteins
pubmed
17924555
uniprot
proteins
pubmed
18669648
uniprot
proteins
pubmed
19690332
uniprot
proteins
pubmed
21406692
uniprot
proteins
pubmed
22266823
uniprot
proteins
pubmed
23186163
uniprot
proteins
sequence_length
536
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:12093742, ECO:0000269|PubMed:17296736}.
uniprot
proteins