FANCL
entrez
55120
canonical
uniprot
Q9NW38
canonical
ensembl
ENSG00000115392
resolver
ensp
ENSP00000233741
resolver
ensp
ENSP00000385021
resolver
ensp
ENSP00000390991
resolver
ensp
ENSP00000400969
resolver
ensp
ENSP00000512562
resolver
ensp
ENSP00000512692
resolver
ensp
ENSP00000512723
resolver
enst
ENST00000427708
resolver
enst
ENST00000446381
resolver
enst
ENST00000696326
resolver
enst
ENST00000696565
resolver
genesymbol
FANCL
resolver
genesymbol_syn
PHF9
resolver
hgnc
HGNC:20748
resolver
uniprot
A0A8Q3SIK5
resolver
uniprot
A0A8Q3SIR9
resolver
uniprot
C9J512
resolver
uniprot
H7C1M0
resolver
uniprot
Q6GU60
resolver
uniprot_entry
A0A8Q3SIK5_HUMAN
resolver
uniprot_entry
A0A8Q3SIR9_HUMAN
resolver
uniprot_entry
C9J512_HUMAN
resolver
uniprot_entry
FANCL_HUMAN
resolver
uniprot_entry
H7C1M0_HUMAN
resolver
uniprot_sec
Q6GU60
resolver
amino_acid_sequence
MAVTEASLLRQCPLLLPQNRSKTVYEGFISAQGRDFHLRIVLPEDLQLKNARLLCSWQLRTILSGYHRIVQQRMQHSPDLMSFMMELKMLLEVALKNRQELYALPPPPQFYSSLIEEIGTLGWDKLVYADTCFSTIKLKAEDASGREHLITLKLKAKYPAESPDYFVDFPVPFCASWTPQSSLISIYSQFLAAIESLKAFWDVMDEIDEKTWVLEPEKPPRSATARRIALGNNVSINIEVDPRHPTMLPECFFLGADHVVKPLGIKLSRNIHLWDPENSVLQNLKDVLEIDFPARAILEKSDFTMDCGICYAYQLDGTIPDQVCDNSQCGQPFHQICLYEWLRGLLTSRQSFNIIFGECPYCSKPITLKMSGRKH
uniprot
proteins
disease_involvement
DISEASE: Fanconi anemia complementation group L (FANCL) [MIM:614083]: 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:12973351}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
2.3.2.27
uniprot
proteins
function
FUNCTION: Ubiquitin ligase protein that mediates monoubiquitination of FANCD2 in the presence of UBE2T, a key step in the DNA damage pathway (PubMed:12973351, PubMed:16916645, PubMed:17938197, PubMed:19111657, PubMed:24389026). Also mediates monoubiquitination of FANCI (PubMed:19589784). May stimulate the ubiquitin release from UBE2W. May be required for proper primordial germ cell proliferation in the embryonic stage, whereas it is probably not needed for spermatogonial proliferation after birth. {ECO:0000269|PubMed:12973351, ECO:0000269|PubMed:16916645, ECO:0000269|PubMed:17938197, ECO:0000269|PubMed:19111657, ECO:0000269|PubMed:19589784, ECO:0000269|PubMed:24389026}.
uniprot
proteins
mass_dalton
42905
uniprot
proteins
mutagenesis
MUTAGEN 127..128; /note="VY->AA: No effect on interaction with FANCI and FANCD2."; /evidence="ECO:0000269|PubMed:21775430"; MUTAGEN 149; /note="L->A: No effect on interaction with FANCI and FANCD2; when associated with A-166."; /evidence="ECO:0000269|PubMed:21775430"; MUTAGEN 158..159; /note="YP->AA: Abolishes UBE2T charging."; /evidence="ECO:0000269|PubMed:19111657"; MUTAGEN 166; /note="F->A: Does not affect interaction with FANCI and FANCD2; when associated with A-149."; /evidence="ECO:0000269|PubMed:21775430"; MUTAGEN 212..214; /note="WVL->AVA: Impairs interaction with FANCI and FANCD2."; /evidence="ECO:0000269|PubMed:21775430"; MUTAGEN 248; /note="L->A: Impairs interaction with FANCI and FANCD2; when associated with A-252, A-254 and A-265."; /evidence="ECO:0000269|PubMed:21775430"; MUTAGEN 252; /note="F->A: Impairs interaction with FANCI and FANCD2; when associated with A-248, A-254 and A-265."; /evidence="ECO:0000269|PubMed:21775430"; MUTAGEN 254; /note="L->A: Impairs interaction with FANCI and FANCD2; when associated with A-248, A-252 and A-265."; /evidence="ECO:0000269|PubMed:21775430"; MUTAGEN 265; /note="I->A: Impairs interaction with FANCI and FANCD2; when associated with A-248, A-252 and A-254."; /evidence="ECO:0000269|PubMed:21775430"; MUTAGEN 307; /note="C->A: Abolishes ubiquitin ligase activity."; /evidence="ECO:0000269|PubMed:12973351, ECO:0000269|PubMed:16916645, ECO:0000269|PubMed:17938197, ECO:0000269|PubMed:19111657, ECO:0000269|PubMed:19589784"; MUTAGEN 309; /note="I->A: Loss of interaction with UBE2T."; /evidence="ECO:0000269|PubMed:24389026"; MUTAGEN 310; /note="C->A: Abolishes ubiquitin ligase activity."; /evidence="ECO:0000269|PubMed:12973351, ECO:0000269|PubMed:17938197"; MUTAGEN 311; /note="Y->A: Loss of interaction with UBE2T."; /evidence="ECO:0000269|PubMed:24389026"; MUTAGEN 341; /note="W->A: Loss of interaction with UBE2T."; /evidence="ECO:0000269|PubMed:24389026"; MUTAGEN 341; /note="W->G: Abolishes interaction with UBE2T and ubiquitin ligase activity."; /evidence="ECO:0000269|PubMed:16916645"; MUTAGEN 359; /note="C->A: Abolishes ubiquitin ligase activity."; /evidence="ECO:0000269|PubMed:19111657
uniprot
proteins
pathway_participation
PATHWAY: Protein modification; protein ubiquitination.
uniprot
proteins
post_translational_modification
PTM: The RING-type zinc finger domain is monoubiquitinated in the presence of UBE2T and UBE2W.
uniprot
proteins
pubmed
12724401
uniprot
proteins
pubmed
12973351
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15502827
uniprot
proteins
pubmed
15815621
uniprot
proteins
pubmed
16116422
uniprot
proteins
pubmed
16916645
uniprot
proteins
pubmed
17938197
uniprot
proteins
pubmed
18550849
uniprot
proteins
pubmed
19111657
uniprot
proteins
pubmed
19589784
uniprot
proteins
pubmed
21775430
uniprot
proteins
pubmed
22343915
uniprot
proteins
pubmed
22814378
uniprot
proteins
pubmed
24389026
uniprot
proteins
sequence_length
375
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250|UniProtKB:Q9CR14}. Nucleus {ECO:0000250|UniProtKB:Q9CR14}.
uniprot
proteins