FANCA
entrez
2175
canonical
uniprot
O15360
canonical
ensembl
ENSG00000187741
resolver
ensp
ENSP00000373952
resolver
ensp
ENSP00000373953
resolver
ensp
ENSP00000443409
resolver
ensp
ENSP00000456829
resolver
enst
ENST00000543736
resolver
genesymbol
FANCA
resolver
genesymbol_syn
FAA
resolver
genesymbol_syn
FACA
resolver
genesymbol_syn
FANCH
resolver
hgnc
HGNC:3582
resolver
uniprot
A5D923
resolver
uniprot
B4DRI7
resolver
uniprot
F6X671
resolver
uniprot
H3BSR5
resolver
uniprot
O75266
resolver
uniprot
Q0VAP4
resolver
uniprot
Q6PL10
resolver
uniprot
Q92497
resolver
uniprot
Q96H18
resolver
uniprot
Q9UEA5
resolver
uniprot
Q9UEL8
resolver
uniprot
Q9UEL9
resolver
uniprot
Q9UPK3
resolver
uniprot
Q9Y6M2
resolver
uniprot_entry
F6X671_HUMAN
resolver
uniprot_entry
FANCA_HUMAN
resolver
uniprot_entry
Q0VAP4_HUMAN
resolver
uniprot_sec
A5D923
resolver
uniprot_sec
B4DRI7
resolver
uniprot_sec
H3BSR5
resolver
uniprot_sec
O75266
resolver
uniprot_sec
Q6PL10
resolver
uniprot_sec
Q92497
resolver
uniprot_sec
Q96H18
resolver
uniprot_sec
Q9UEA5
resolver
uniprot_sec
Q9UEL8
resolver
uniprot_sec
Q9UEL9
resolver
uniprot_sec
Q9UPK3
resolver
uniprot_sec
Q9Y6M2
resolver
amino_acid_sequence
MSDSWVPNSASGQDPGGRRRAWAELLAGRVKREKYNPERAQKLKESAVRLLRSHQDLNALLLEVEGPLCKKLSLSKVIDCDSSEAYANHSSSFIGSALQDQASRLGVPVGILSAGMVASSVGQICTAPAETSHPVLLTVEQRKKLSSLLEFAQYLLAHSMFSRLSFCQELWKIQSSLLLEAVWHLHVQGIVSLQELLESHPDMHAVGSWLFRNLCCLCEQMEASCQHADVARAMLSDFVQMFVLRGFQKNSDLRRTVEPEKMPQVTVDVLQRMLIFALDALAAGVQEESSTHKIVRCWFGVFSGHTLGSVISTDPLKRFFSHTLTQILTHSPVLKASDAVQMQREWSFARTHPLLTSLYRRLFVMLSAEELVGHLQEVLETQEVHWQRVLSFVSALVVCFPEAQQLLEDWVARLMAQAFESCQLDSMVTAFLVVRQAALEGPSAFLSYADWFKASFGSTRGYHGCSKKALVFLFTFLSELVPFESPRYLQVHILHPPLVPGKYRSLLTDYISLAKTRLADLKVSIENMGLYEDLSSAGDITEPHSQALQDVEKAIMVFEHTGNIPVTVMEASIFRRPYYVSHFLPALLTPRVLPKVPDSRVAFIESLKRADKIPPSLYSTYCQACSAAEEKPEDAALGVRAEPNSAEEPLGQLTAALGELRASMTDPSQRDVISAQVAVISERLRAVLGHNEDDSSVEISKIQLSINTPRLEPREHMAVDLLLTSFCQNLMAASSVAPPERQGPWAALFVRTMCGRVLPAVLTRLCQLLRHQGPSLSAPHVLGLAALAVHLGESRSALPEVDVGPPAPGAGLPVPALFDSLLTCRTRDSLFFCLKFCTAAISYSLCKFSSQSRDTLCSCLSPGLIKKFQFLMFRLFSEARQPLSEEDVASLSWRPLHLPSADWQRAALSLWTHRTFREVLKEEDVHLTYQDWLHLELEIQPEADALSDTERQDFHQWAIHEHFLPESSASGGCDGDLQAACTILVNALMDFHQSSRSYDHSENSDLVFGGRTGNEDIISRLQEMVADLELQQDLIVPLGHTPSQEHFLFEIFRRRLQALTSGWSVAASLQRQRELLMYKRILLRLPSSVLCGSSFQAEQPITARCEQFFHLVNSEMRNFCSHGGALTQDITAHFFRGLLNACLRSRDPSLMVDFILAKCQTKCPLILTSALVWWPSLEPVLLCRWRRHCQSPLPRELQKLQEGRQFASDFLSPEAASPAPNPDWLSAAALHFAIQQVREENIRKQLKKLDCEREELLVFLFFFSLMGLLSSHLTSNSTTDLPKAFHVCAAILECLEKRKISWLALFQLTESDLRLGRLLLRVAPDQHTRLLPFAFYSLLSYFHEDAAIREEAFLHVAVDMYLKLVQLFVAGDTSTVSPPAGRSLELKGQGNPVELITKARLFLLQLIPRCPKKSFSHVAELLADRGDCDPEVSAALQSRQQAAPDADLSQEPHLF
uniprot
proteins
disease_involvement
DISEASE: Fanconi anemia, complementation group A (FANCA) [MIM:227650]: 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:10094191, ECO:0000269|PubMed:10210316, ECO:0000269|PubMed:10521298, ECO:0000269|PubMed:10807541, ECO:0000269|PubMed:11091222, ECO:0000269|PubMed:17924555, ECO:0000269|PubMed:9371798, ECO:0000269|PubMed:9399890, ECO:0000269|PubMed:9929978}. 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 involved in interstrand DNA cross-link repair and in the maintenance of normal chromosome stability.
uniprot
proteins
mass_dalton
162775
uniprot
proteins
post_translational_modification
PTM: Phosphorylation is required for the formation of the nuclear complex. Not phosphorylated in cells derived from groups A, B, C, E, F, G, and H. {ECO:0000269|PubMed:9789045}.
uniprot
proteins
pubmed
10094191
uniprot
proteins
pubmed
10210316
uniprot
proteins
pubmed
10521298
uniprot
proteins
pubmed
10807541
uniprot
proteins
pubmed
11091222
uniprot
proteins
pubmed
12724401
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15299030
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15502827
uniprot
proteins
pubmed
15616553
uniprot
proteins
pubmed
16116422
uniprot
proteins
pubmed
17525332
uniprot
proteins
pubmed
17924555
uniprot
proteins
pubmed
18550849
uniprot
proteins
pubmed
18691976
uniprot
proteins
pubmed
18987736
uniprot
proteins
pubmed
22266823
uniprot
proteins
pubmed
22343915
uniprot
proteins
pubmed
22705371
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
8896563
uniprot
proteins
pubmed
9169126
uniprot
proteins
pubmed
9371798
uniprot
proteins
pubmed
9399890
uniprot
proteins
pubmed
9711872
uniprot
proteins
pubmed
9721219
uniprot
proteins
pubmed
9742112
uniprot
proteins
pubmed
9789045
uniprot
proteins
pubmed
9929978
uniprot
proteins
sequence_length
1455
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Nucleus. Cytoplasm. Note=The major form is nuclear. The minor form is cytoplasmic.
uniprot
proteins