Property Summary

NCBI Gene PubMed Count 114
Grant Count 106
R01 Count 67
Funding $13,233,610.49
PubMed Score 221.49
PubTator Score 262.78

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (13)

Disease log2 FC p
malignant mesothelioma 2.100 0.000
psoriasis -1.200 0.001
osteosarcoma -2.060 0.000
medulloblastoma 1.700 0.000
atypical teratoid / rhabdoid tumor 1.700 0.000
glioblastoma 1.100 0.005
medulloblastoma, large-cell 2.100 0.000
primitive neuroectodermal tumor 1.100 0.002
lung cancer 1.600 0.003
adult high grade glioma 1.800 0.001
lung adenocarcinoma 1.300 0.000
Breast cancer 1.100 0.000
ovarian cancer 1.500 0.000

Synonym

Accession O15360 A5D923 B4DRI7 H3BSR5 O75266 Q6PL10 Q92497 Q96H18 Q9UEA5 Q9UEL8 Q9UEL9 Q9UPK3 Q9Y6M2 Protein FACA
Symbols FA
FA1
FAA
FAH
FA-H
FACA
FANCH

Gene

Gene RIF (57)

PMID Text
26584049 Using human and murine cells defective in FANCD2 or FANCA and primary bone marrow cells derived from FANCD2 deficient mice, we show that the FA pathway removes R loops and that many DNA breaks accumulated in FA cells are R loop-dependent.
26366677 FANCA safeguards interphase and mitosis during hematopoiesis
25863087 A frameshifting mutation and a truncating mutation of FANCA are associated with Fanconi anemia.
25751062 The I939S point mutation prevented binding to the FAAP20 subunit of the FA core complex, caused SUMOylation at K921, RNF4-mediated polyubiquitination and degradation.
25243787 BRCA2 rs10492396 (AG vs. GG: adjusted hazard ratio (adjHR)=1.85, 95% confidence interval (CI)=1.16-2.95, P=0.010), rs206118 (CC vs. TT+TC: adjHR=2.44, 95% CI=1.27-4.67, P=0.007), rs3752447 and FANCA rs62068372
25108529 Proliferation is compromised in FANCA-deficient pluripotent embryonic stem cells.
25015289 FANCA-modulated neddylation pathway involved in CXCR5 membrane targeting and cell mobility.
24704046 Identified two unpredictable splicing mutations that act on either sides of FANCA exon 8.
24486548 miR-503 gene is methylated in non-small cell lung cancer cells. miR-503 targets a homologous DNA region in the 3'-UTR region of the Fanconi anemia complementation group A protein (FANCA) gene and represses its expression at the transcriptional level.
24356203 c.190-256_283 + 1680del2040 dupC mutation in the FANCA gene is a founder mutation in Macedonian Fanconi anemia patients of Gypsy-like ethnic origin.
More...

AA Sequence

MSDSWVPNSASGQDPGGRRRAWAELLAGRVKREKYNPERAQKLKESAVRLLRSHQDLNALLLEVEGPLCK      1 - 70
KLSLSKVIDCDSSEAYANHSSSFIGSALQDQASRLGVPVGILSAGMVASSVGQICTAPAETSHPVLLTVE     71 - 140
QRKKLSSLLEFAQYLLAHSMFSRLSFCQELWKIQSSLLLEAVWHLHVQGIVSLQELLESHPDMHAVGSWL    141 - 210
FRNLCCLCEQMEASCQHADVARAMLSDFVQMFVLRGFQKNSDLRRTVEPEKMPQVTVDVLQRMLIFALDA    211 - 280
LAAGVQEESSTHKIVRCWFGVFSGHTLGSVISTDPLKRFFSHTLTQILTHSPVLKASDAVQMQREWSFAR    281 - 350
THPLLTSLYRRLFVMLSAEELVGHLQEVLETQEVHWQRVLSFVSALVVCFPEAQQLLEDWVARLMAQAFE    351 - 420
SCQLDSMVTAFLVVRQAALEGPSAFLSYADWFKASFGSTRGYHGCSKKALVFLFTFLSELVPFESPRYLQ    421 - 490
VHILHPPLVPGKYRSLLTDYISLAKTRLADLKVSIENMGLYEDLSSAGDITEPHSQALQDVEKAIMVFEH    491 - 560
TGNIPVTVMEASIFRRPYYVSHFLPALLTPRVLPKVPDSRVAFIESLKRADKIPPSLYSTYCQACSAAEE    561 - 630
KPEDAALGVRAEPNSAEEPLGQLTAALGELRASMTDPSQRDVISAQVAVISERLRAVLGHNEDDSSVEIS    631 - 700
KIQLSINTPRLEPREHMAVDLLLTSFCQNLMAASSVAPPERQGPWAALFVRTMCGRVLPAVLTRLCQLLR    701 - 770
HQGPSLSAPHVLGLAALAVHLGESRSALPEVDVGPPAPGAGLPVPALFDSLLTCRTRDSLFFCLKFCTAA    771 - 840
ISYSLCKFSSQSRDTLCSCLSPGLIKKFQFLMFRLFSEARQPLSEEDVASLSWRPLHLPSADWQRAALSL    841 - 910
WTHRTFREVLKEEDVHLTYQDWLHLELEIQPEADALSDTERQDFHQWAIHEHFLPESSASGGCDGDLQAA    911 - 980
CTILVNALMDFHQSSRSYDHSENSDLVFGGRTGNEDIISRLQEMVADLELQQDLIVPLGHTPSQEHFLFE    981 - 1050
IFRRRLQALTSGWSVAASLQRQRELLMYKRILLRLPSSVLCGSSFQAEQPITARCEQFFHLVNSEMRNFC   1051 - 1120
SHGGALTQDITAHFFRGLLNACLRSRDPSLMVDFILAKCQTKCPLILTSALVWWPSLEPVLLCRWRRHCQ   1121 - 1190
SPLPRELQKLQEGRQFASDFLSPEAASPAPNPDWLSAAALHFAIQQVREENIRKQLKKLDCEREELLVFL   1191 - 1260
FFFSLMGLLSSHLTSNSTTDLPKAFHVCAAILECLEKRKISWLALFQLTESDLRLGRLLLRVAPDQHTRL   1261 - 1330
LPFAFYSLLSYFHEDAAIREEAFLHVAVDMYLKLVQLFVAGDTSTVSPPAGRSLELKGQGNPVELITKAR   1331 - 1400
LFLLQLIPRCPKKSFSHVAELLADRGDCDPEVSAALQSRQQAAPDADLSQEPHLF                  1401 - 1455
//

Text Mined References (121)

PMID Year Title
26584049 2015 The Fanconi Anemia Pathway Protects Genome Integrity from R-loops.
26366677 2015 FANCA safeguards interphase and mitosis during hematopoiesis in vivo.
25863087 2015 [Molecular and prenatal diagnosis of a family with Fanconi anemia by next generation sequencing].
25751062 2015 RNF4-mediated polyubiquitination regulates the Fanconi anemia/BRCA pathway.
25243787 2015 Genetic variants in fanconi anemia pathway genes BRCA2 and FANCA predict melanoma survival.
25108529 2014 FANCA knockout in human embryonic stem cells causes a severe growth disadvantage.
25015289 2014 Proteomic analysis reveals a FANCA-modulated neddylation pathway involved in CXCR5 membrane targeting and cell mobility.
24704046 2014 Unusual splice site mutations disrupt FANCA exon 8 definition.
24486548 2014 Epigenetic silencing of MicroRNA-503 regulates FANCA expression in non-small cell lung cancer cell.
24356203 2014 Fanconi anemia founder mutation in Macedonian patients.
More...