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O15360 (FANCA_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified April 18, 2012. Version 114. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (4) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Interactions·Alt products·Sequence annotation·Sequences·References·Web links·Cross-refs·Entry info·DocumentsCustomize order
to top of pageNames·Attributes·General annotation·Ontologies·Interactions·Alt products·Sequence annotation·Sequences·References·Web links·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Fanconi anemia group A protein
Short name=Protein FACA
Gene names
Name:FANCA
Synonyms:FAA, FACA, FANCH
OrganismHomo sapiens (Human)
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo

Protein attributes

Sequence length1455 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

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.

Subunit structure

Belongs to the multisubunit FA complex composed of FANCA, FANCB, FANCC, FANCE, FANCF, FANCG, FANCL/PHF9 and FANCM. The complex is not found in FA patients. In complex with FANCF, FANCG and FANCL, but not with FANCC, nor FANCE, interacts with HES1; this interaction may be essential for the stability and nuclear localization of FA core complex proteins. The complex with FANCC and FANCG may also include EIF2AK2 and HSP70. Ref.17

Subcellular location

Nucleus. Cytoplasm. Note: The major form is nuclear. The minor form is cytoplasmic. Ref.9 Ref.17

Post-translational modification

Phosphorylated upon DNA damage, probably by ATM or ATR. 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. Ref.11 Ref.15 Ref.16 Ref.18

Involvement in disease

Defects in FANCA are a cause of Fanconi anemia (FA) [MIM:227650]. FA is a genetically heterogeneous, autosomal recessive disorder characterized by progressive pancytopenia, a diverse assortment of congenital malformations, 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. Ref.10 Ref.12 Ref.13 Ref.14 Ref.19 Ref.20 Ref.21 Ref.22 Ref.23 Ref.24 Ref.25 Ref.26 Ref.27

Ontologies

Keywords
   Biological processDNA damage
DNA repair
   Cellular componentCytoplasm
Nucleus
   Coding sequence diversityAlternative splicing
Polymorphism
   DiseaseDisease mutation
Fanconi anemia
   PTMPhosphoprotein
   Technical termComplete proteome
Reference proteome
Gene Ontology (GO)
   Biological processDNA repair

Traceable author statement. Source: Reactome

protein complex assembly

Traceable author statement PubMed 9398857. Source: ProtInc

   Cellular componentFanconi anaemia nuclear complex

Inferred from direct assay PubMed 20347428. Source: UniProtKB

cytoplasm

Traceable author statement PubMed 9398857. Source: ProtInc

   Molecular functionprotein binding

Inferred from physical interaction PubMed 12571280. Source: UniProtKB

Complete GO annotation...

Binary interactions

With

Entry

#Exp.

IntAct

Notes

FANCFQ9NPI85EBI-81570,EBI-81589
FANCGO152876EBI-81570,EBI-81610
GRB2P629932EBI-81570,EBI-401755

Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: O15360-1)

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.
Isoform 2 (identifier: O15360-2)

The sequence of this isoform differs from the canonical sequence as follows:
     298-1455: Missing.
Note: No experimental confirmation available.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 14551455Fanconi anemia group A protein
PRO_0000087179

Regions

Motif18 – 3417Nuclear localization signal Potential

Amino acid modifications

Modified residue8491Phosphoserine Ref.15
Modified residue8501Phosphoserine Ref.15
Modified residue8581Phosphoserine Ref.15
Modified residue14491Phosphoserine Ref.16 Ref.18

Natural variations

Alternative sequence298 – 14551158Missing in isoform 2.
VSP_007039
Natural variant61V → D.
Corresponds to variant rs1800282 [ dbSNP | Ensembl ].
VAR_009637
Natural variant81N → K in FA; unknown pathological significance.
VAR_009638
Natural variant1311T → S.
Corresponds to variant rs34491278 [ dbSNP | Ensembl ].
VAR_050982
Natural variant1761S → F.
Corresponds to variant rs35566151 [ dbSNP | Ensembl ].
VAR_050983
Natural variant1811A → V in FA.
Corresponds to variant rs17232246 [ dbSNP | Ensembl ].
VAR_009639
Natural variant2101L → R in FA. Ref.27
VAR_038012
Natural variant2441L → F in FA.
VAR_009640
Natural variant2521D → G in FA.
Corresponds to variant rs17225943 [ dbSNP | Ensembl ].
VAR_009641
Natural variant2661T → A. Ref.4 Ref.6 Ref.19 Ref.28
Corresponds to variant rs7190823 [ dbSNP | Ensembl ].
VAR_017496
Natural variant2771A → G.
Corresponds to variant rs35880318 [ dbSNP | Ensembl ].
VAR_050984
Natural variant2861Q → R.
Corresponds to variant rs13336566 [ dbSNP | Ensembl ].
VAR_050985
Natural variant4121A → V. Ref.28
Corresponds to variant rs11646374 [ dbSNP | Ensembl ].
VAR_050986
Natural variant4351R → C in FA. Ref.20
VAR_009642
Natural variant4921H → R in FA. Ref.20
VAR_009643
Natural variant5011G → S Common polymorphism. Ref.1 Ref.2 Ref.4 Ref.7 Ref.19 Ref.20 Ref.28
Corresponds to variant rs2239359 [ dbSNP | Ensembl ].
VAR_009644
Natural variant5981D → N in FA. Ref.21 Ref.22
VAR_017497
Natural variant6431P → A.
Corresponds to variant rs17232910 [ dbSNP | Ensembl ].
VAR_050987
Natural variant6601L → P in FA. Ref.27
VAR_038013
Natural variant7171M → I. Ref.1
Corresponds to variant rs1131660 [ dbSNP | Ensembl ].
VAR_061649
Natural variant7391P → L. Ref.20
Corresponds to variant rs45441106 [ dbSNP | Ensembl ].
VAR_009645
Natural variant7611V → E. Ref.27
VAR_038014
Natural variant8091G → D Common polymorphism. Ref.4 Ref.19 Ref.20 Ref.28
Corresponds to variant rs7195066 [ dbSNP | Ensembl ].
VAR_009646
Natural variant8171L → P in FA. Ref.20
VAR_009647
Natural variant8431Y → D in FA. Ref.27
VAR_038015
Natural variant8451L → P in FA.
VAR_009648
Natural variant8581S → R in FA. Ref.22 Ref.25
Corresponds to variant rs17233141 [ dbSNP | Ensembl ].
VAR_017498
Natural variant8691Q → P in FA. Ref.27
VAR_038016
Natural variant9511R → Q. Ref.27
VAR_038017
Natural variant9511R → W. Ref.27
VAR_038018
Natural variant10551R → L in FA. Ref.20
VAR_009649
Natural variant10551R → W in FA. Ref.24
VAR_017499
Natural variant10821L → P in FA. Ref.26
VAR_017500
Natural variant10881S → F in FA. Ref.22 Ref.28
Corresponds to variant rs17233497 [ dbSNP | Ensembl ].
VAR_017501
Natural variant11101H → P in FA; loss of function. Ref.21 Ref.23
VAR_009650
Natural variant11171R → G in FA; loss of function. Ref.20 Ref.23
VAR_009651
Natural variant11281Q → E in FA. Ref.20
VAR_009652
Natural variant11311T → A in FA. Ref.20 Ref.27
VAR_009653
Natural variant12491L → P in FA; possibly hypomorphic allele. Ref.27
VAR_038019
Natural variant12621F → L in FA. Ref.21
VAR_017502
Natural variant12631Missing in FA. Ref.20 Ref.21
VAR_009654
Natural variant12871V → I.
Corresponds to variant rs17227354 [ dbSNP | Ensembl ].
VAR_009655
Natural variant13021W → R in FA. Ref.20
VAR_009656
Natural variant13241P → L in FA. Ref.21 Ref.27
VAR_017505
Natural variant13281T → A. Ref.20
Corresponds to variant rs9282681 [ dbSNP | Ensembl ].
VAR_009657
Natural variant13461A → T in FA; uncertain pathological significance. Ref.27
Corresponds to variant rs17227396 [ dbSNP | Ensembl ].
VAR_038020
Natural variant13591D → Y in FA. Ref.19
VAR_017503
Natural variant13601M → I in FA. Ref.21
VAR_017504
Natural variant14001R → H in FA; possibly hypomorphic allele. Ref.27
VAR_038021
Natural variant14171H → D in FA. Ref.20
Corresponds to variant rs17227403 [ dbSNP | Ensembl ].
VAR_009658

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified May 15, 2007. Version 2.
Checksum: 5A1918F2BEF4BC50

FASTA1,455162,775
        10         20         30         40         50         60 
MSDSWVPNSA SGQDPGGRRR AWAELLAGRV KREKYNPERA QKLKESAVRL LRSHQDLNAL 

        70         80         90        100        110        120 
LLEVEGPLCK KLSLSKVIDC DSSEAYANHS SSFIGSALQD QASRLGVPVG ILSAGMVASS 

       130        140        150        160        170        180 
VGQICTAPAE TSHPVLLTVE QRKKLSSLLE FAQYLLAHSM FSRLSFCQEL WKIQSSLLLE 

       190        200        210        220        230        240 
AVWHLHVQGI VSLQELLESH PDMHAVGSWL FRNLCCLCEQ MEASCQHADV ARAMLSDFVQ 

       250        260        270        280        290        300 
MFVLRGFQKN SDLRRTVEPE KMPQVTVDVL QRMLIFALDA LAAGVQEESS THKIVRCWFG 

       310        320        330        340        350        360 
VFSGHTLGSV ISTDPLKRFF SHTLTQILTH SPVLKASDAV QMQREWSFAR THPLLTSLYR 

       370        380        390        400        410        420 
RLFVMLSAEE LVGHLQEVLE TQEVHWQRVL SFVSALVVCF PEAQQLLEDW VARLMAQAFE 

       430        440        450        460        470        480 
SCQLDSMVTA FLVVRQAALE GPSAFLSYAD WFKASFGSTR GYHGCSKKAL VFLFTFLSEL 

       490        500        510        520        530        540 
VPFESPRYLQ VHILHPPLVP GKYRSLLTDY ISLAKTRLAD LKVSIENMGL YEDLSSAGDI 

       550        560        570        580        590        600 
TEPHSQALQD VEKAIMVFEH TGNIPVTVME ASIFRRPYYV SHFLPALLTP RVLPKVPDSR 

       610        620        630        640        650        660 
VAFIESLKRA DKIPPSLYST YCQACSAAEE KPEDAALGVR AEPNSAEEPL GQLTAALGEL 

       670        680        690        700        710        720 
RASMTDPSQR DVISAQVAVI SERLRAVLGH NEDDSSVEIS KIQLSINTPR LEPREHMAVD 

       730        740        750        760        770        780 
LLLTSFCQNL MAASSVAPPE RQGPWAALFV RTMCGRVLPA VLTRLCQLLR HQGPSLSAPH 

       790        800        810        820        830        840 
VLGLAALAVH LGESRSALPE VDVGPPAPGA GLPVPALFDS LLTCRTRDSL FFCLKFCTAA 

       850        860        870        880        890        900 
ISYSLCKFSS QSRDTLCSCL SPGLIKKFQF LMFRLFSEAR QPLSEEDVAS LSWRPLHLPS 

       910        920        930        940        950        960 
ADWQRAALSL WTHRTFREVL KEEDVHLTYQ DWLHLELEIQ PEADALSDTE RQDFHQWAIH 

       970        980        990       1000       1010       1020 
EHFLPESSAS GGCDGDLQAA CTILVNALMD FHQSSRSYDH SENSDLVFGG RTGNEDIISR 

      1030       1040       1050       1060       1070       1080 
LQEMVADLEL QQDLIVPLGH TPSQEHFLFE IFRRRLQALT SGWSVAASLQ RQRELLMYKR 

      1090       1100       1110       1120       1130       1140 
ILLRLPSSVL CGSSFQAEQP ITARCEQFFH LVNSEMRNFC SHGGALTQDI TAHFFRGLLN 

      1150       1160       1170       1180       1190       1200 
ACLRSRDPSL MVDFILAKCQ TKCPLILTSA LVWWPSLEPV LLCRWRRHCQ SPLPRELQKL 

      1210       1220       1230       1240       1250       1260 
QEGRQFASDF LSPEAASPAP NPDWLSAAAL HFAIQQVREE NIRKQLKKLD CEREELLVFL 

      1270       1280       1290       1300       1310       1320 
FFFSLMGLLS SHLTSNSTTD LPKAFHVCAA ILECLEKRKI SWLALFQLTE SDLRLGRLLL 

      1330       1340       1350       1360       1370       1380 
RVAPDQHTRL LPFAFYSLLS YFHEDAAIRE EAFLHVAVDM YLKLVQLFVA GDTSTVSPPA 

      1390       1400       1410       1420       1430       1440 
GRSLELKGQG NPVELITKAR LFLLQLIPRC PKKSFSHVAE LLADRGDCDP EVSAALQSRQ 

      1450 
QAAPDADLSQ EPHLF

« Hide

Isoform 2 [UniParc].

Checksum: B48C851402C58AB8
Show »

FASTA29732,984

References

« Hide 'large scale' references
[1]"Expression cloning of a cDNA for the major Fanconi anaemia gene, FAA."
Lo Ten Foe J.R., Rooimans M.A., Bosnoyan-Collins L., Alon N., Wijker M., Parker L., Lightfoot J., Carreau M., Callen D.F., Savoia A., Cheng N.C., van Berkel C.G.M., Strunk M.H.P., Gille J.J.P., Pals G., Kruyt F.A.E., Pronk J.C., Arwert F., Buchwald M., Joenje H.
Nat. Genet. 14:320-323(1996) [PubMed: 8896563] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), VARIANTS SER-501 AND ILE-717.
Tissue: Lymphoblast.
[2]"The genomic organization of the Fanconi anemia group A (FAA) gene."
Ianzano L., D'Apolito M., Centra M., Savino M., Levran O., Auerbach A.D., Cleton-Jansen A.-M., Doggett N.A., Pronk J.C., Tipping A.J., Gibson R.A., Mathew C.G., Whitmore S.A., Apostolou S., Callen F.C., Zelante L., Savoia A.
Genomics 41:309-314(1997) [PubMed: 9169126] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] (ISOFORM 1), VARIANT SER-501.
[3]"Sequencing of human Fanconi anemia complementation group A gene genomic region."
Ricke D.O., Bruce D., Mundt M., Doggett N., Munk C., Saunders E., Robinson D., Jones M., Buckingham J., Chasteen L., Thompson S., Goodwin L., Bryant J., Tesmer J., Meincke L., Longmire J., White S., Ueng S. expand/collapse author list , Tatum O., Campbell C., Fawcett J., Maltbie M., Deaven L.
Submitted (AUG-1998) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] (ISOFORM 1).
[4]NIEHS SNPs program
Submitted (APR-2004) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANTS ALA-266; SER-501 AND ASP-809.
[5]"The sequence and analysis of duplication-rich human chromosome 16."
Martin J., Han C., Gordon L.A., Terry A., Prabhakar S., She X., Xie G., Hellsten U., Chan Y.M., Altherr M., Couronne O., Aerts A., Bajorek E., Black S., Blumer H., Branscomb E., Brown N.C., Bruno W.J. expand/collapse author list , Buckingham J.M., Callen D.F., Campbell C.S., Campbell M.L., Campbell E.W., Caoile C., Challacombe J.F., Chasteen L.A., Chertkov O., Chi H.C., Christensen M., Clark L.M., Cohn J.D., Denys M., Detter J.C., Dickson M., Dimitrijevic-Bussod M., Escobar J., Fawcett J.J., Flowers D., Fotopulos D., Glavina T., Gomez M., Gonzales E., Goodstein D., Goodwin L.A., Grady D.L., Grigoriev I., Groza M., Hammon N., Hawkins T., Haydu L., Hildebrand C.E., Huang W., Israni S., Jett J., Jewett P.B., Kadner K., Kimball H., Kobayashi A., Krawczyk M.-C., Leyba T., Longmire J.L., Lopez F., Lou Y., Lowry S., Ludeman T., Manohar C.F., Mark G.A., McMurray K.L., Meincke L.J., Morgan J., Moyzis R.K., Mundt M.O., Munk A.C., Nandkeshwar R.D., Pitluck S., Pollard M., Predki P., Parson-Quintana B., Ramirez L., Rash S., Retterer J., Ricke D.O., Robinson D.L., Rodriguez A., Salamov A., Saunders E.H., Scott D., Shough T., Stallings R.L., Stalvey M., Sutherland R.D., Tapia R., Tesmer J.G., Thayer N., Thompson L.S., Tice H., Torney D.C., Tran-Gyamfi M., Tsai M., Ulanovsky L.E., Ustaszewska A., Vo N., White P.S., Williams A.L., Wills P.L., Wu J.-R., Wu K., Yang J., DeJong P., Bruce D., Doggett N.A., Deaven L., Schmutz J., Grimwood J., Richardson P., Rokhsar D.S., Eichler E.E., Gilna P., Lucas S.M., Myers R.M., Rubin E.M., Pennacchio L.A.
Nature 432:988-994(2004) [PubMed: 15616553] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[6]"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
The MGC Project Team
Genome Res. 14:2121-2127(2004) [PubMed: 15489334] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2), VARIANT ALA-266.
Tissue: Cervix.
[7]"Fine exon-intron structure of the Fanconi anemia group A (FAA) gene and characterization of two genomic deletions."
Centra M., Memeo E., D'Apolito M., Savino M., Ianzano L., Notarangelo A., Liu J., Doggett N.A., Zelante L., Savoia A.
Genomics 51:463-467(1998) [PubMed: 9721219] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 491-571 AND 610-671, VARIANT SER-501.
[8]"Identification of Alu-mediated deletions in the Fanconi anemia gene FAA."
Levran O., Doggett N.A., Auerbach A.D.
Hum. Mutat. 12:145-152(1998) [PubMed: 9711872] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 491-542.
[9]"Functional activity of the Fanconi anemia protein FAA requires FAC binding and nuclear localization."
Naef D., Kupfer G.M., Suliman A., Lambert K., D'Andrea A.D.
Mol. Cell. Biol. 18:5952-5960(1998) [PubMed: 9742112] [Abstract]
Cited for: SUBCELLULAR LOCATION, MUTAGENESIS.
[10]"A multiprotein nuclear complex connects Fanconi anemia and Bloom syndrome."
Meetei A.R., Sechi S., Wallisch M., Yang D., Young M.K., Joenje H., Hoatlin M.E., Wang W.
Mol. Cell. Biol. 23:3417-3426(2003) [PubMed: 12724401] [Abstract]
Cited for: IDENTIFICATION IN A COMPLEX WITH FANCC; FANCE; FANCF; FANCG AND FANCL.
[11]"The Fanconi anemia pathway requires FAA phosphorylation and FAA/FAC nuclear accumulation."
Yamashita T., Kupfer G.M., Naf D., Suliman A., Joenje H., Asano S., D'Andrea A.D.
Proc. Natl. Acad. Sci. U.S.A. 95:13085-13090(1998) [PubMed: 9789045] [Abstract]
Cited for: PHOSPHORYLATION.
[12]"The Fanconi anemia proteins functionally interact with the protein kinase regulated by RNA (PKR)."
Zhang X., Li J., Sejas D.P., Rathbun K.R., Bagby G.C., Pang Q.
J. Biol. Chem. 279:43910-43919(2004) [PubMed: 15299030] [Abstract]
Cited for: IDENTIFICATION IN A COMPLEX WITH EIF2AK2; FANCC; FANCG AND HSP70.
[13]"X-linked inheritance of Fanconi anemia complementation group B."
Meetei A.R., Levitus M., Xue Y., Medhurst A.L., Zwaan M., Ling C., Rooimans M.A., Bier P., Hoatlin M., Pals G., de Winter J.P., Wang W., Joenje H.
Nat. Genet. 36:1219-1224(2004) [PubMed: 15502827] [Abstract]
Cited for: IDENTIFICATION IN A COMPLEX WITH FANCB; FANCC; FANCE; FANCF; FANCG AND FANCL.
[14]"A human ortholog of archaeal DNA repair protein Hef is defective in Fanconi anemia complementation group M."
Meetei A.R., Medhurst A.L., Ling C., Xue Y., Singh T.R., Bier P., Steltenpool J., Stone S., Dokal I., Mathew C.G., Hoatlin M., Joenje H., de Winter J.P., Wang W.
Nat. Genet. 37:958-963(2005) [PubMed: 16116422] [Abstract]
Cited for: IDENTIFICATION IN A COMPLEX WITH FANCB; FANCC; FANCE; FANCF; FANCG; FANCL AND FANCM.
[15]"Improved titanium dioxide enrichment of phosphopeptides from HeLa cells and high confident phosphopeptide identification by cross-validation of MS/MS and MS/MS/MS spectra."
Yu L.-R., Zhu Z., Chan K.C., Issaq H.J., Dimitrov D.S., Veenstra T.D.
J. Proteome Res. 6:4150-4162(2007) [PubMed: 17924679] [Abstract]
Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-849; SER-850 AND SER-858, MASS SPECTROMETRY.
Tissue: Cervix carcinoma.
[16]"ATM and ATR substrate analysis reveals extensive protein networks responsive to DNA damage."
Matsuoka S., Ballif B.A., Smogorzewska A., McDonald E.R. III, Hurov K.E., Luo J., Bakalarski C.E., Zhao Z., Solimini N., Lerenthal Y., Shiloh Y., Gygi S.P., Elledge S.J.
Science 316:1160-1166(2007) [PubMed: 17525332] [Abstract]
Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-1449, MASS SPECTROMETRY.
Tissue: Embryonic kidney.
[17]"HES1 is a novel interactor of the Fanconi anemia core complex."
Tremblay C.S., Huang F.F., Habi O., Huard C.C., Godin C., Levesque G., Carreau M.
Blood 112:2062-2070(2008) [PubMed: 18550849] [Abstract]
Cited for: INTERACTION WITH HES1, SUBCELLULAR LOCATION.
[18]"Kinase-selective enrichment enables quantitative phosphoproteomics of the kinome across the cell cycle."
Daub H., Olsen J.V., Bairlein M., Gnad F., Oppermann F.S., Korner R., Greff Z., Keri G., Stemmann O., Mann M.
Mol. Cell 31:438-448(2008) [PubMed: 18691976] [Abstract]
Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-1449, MASS SPECTROMETRY.
Tissue: Cervix carcinoma.
[19]"Mutations of the Fanconi anemia group A gene (FAA) in Italian patients."
Savino M., Ianzano L., Strippoli P., Ramenghi U., Arslanian A., Bagnara G.P., Joenje H., Zelante L., Savoia A.
Am. J. Hum. Genet. 61:1246-1253(1997) [PubMed: 9399890] [Abstract]
Cited for: VARIANT FA TYR-1359, VARIANTS ALA-266; SER-501 AND ASP-809.
[20]"Sequence variation in the Fanconi anemia gene FAA."
Levran O., Erlich T., Magdalena N., Gregory J.J., Batish S.D., Verlander P.C., Auerbach A.D.
Proc. Natl. Acad. Sci. U.S.A. 94:13051-13056(1997) [PubMed: 9371798] [Abstract]
Cited for: VARIANTS FA CYS-435; ARG-492; PRO-817; LEU-1055; GLY-1117; GLU-1128; ALA-1131; PHE-1263 DEL; ARG-1302 AND ASP-1417, VARIANTS SER-501; LEU-739; ASP-809 AND ALA-1328.
[21]"High frequency of large intragenic deletions in the Fanconi anemia group A gene."
Morgan N.V., Tipping A.J., Joenje H., Mathew C.G.
Am. J. Hum. Genet. 65:1330-1341(1999) [PubMed: 10521298] [Abstract]
Cited for: VARIANTS FA ASN-598; PRO-1110; LEU-1262; PHE-1263 DEL; LEU-1324 AND ILE-1360.
[22]"Heterogeneous spectrum of mutations in the Fanconi anaemia group A gene."
Wijker M., Morgan N.V., Herterich S., van Berkel C.G., Tipping A.J., Gross H.J., Gille J.J., Pals G., Savino M., Altay C., Mohan S., Dokal I., Cavenagh J., Marsh J., van Weel M., Ortega J.J., Schuler D., Samochatova E. expand/collapse author list , Karwacki M., Bekassy A.N., Abecasis M., Ebell W., Kwee M.L., de Ravel T., Mathew C.G.
Eur. J. Hum. Genet. 7:52-59(1999) [PubMed: 10094191] [Abstract]
Cited for: VARIANTS FA ASN-598; ARG-858 AND PHE-1088.
[23]"A patient-derived mutant form of the Fanconi anemia protein, FANCA, is defective in nuclear accumulation."
Kupfer G., Naef D., Garcia-Higuera I., Wasik J., Cheng A., Yamashita T., Tipping A., Morgan N., Mathew C.G., D'Andrea A.D.
Exp. Hematol. 27:587-593(1999) [PubMed: 10210316] [Abstract]
Cited for: VARIANTS FA PRO-1110 AND GLY-1117.
[24]"Four novel mutations of the Fanconi anemia group A gene (FAA) in Japanese patients."
Nakamura A., Matsuura S., Tauchi H., Hanada R., Ohashi H., Hasegawa T., Honda K., Masuno M., Imaizumi K., Sugita K., Ide T., Komatsu K.
J. Hum. Genet. 44:48-51(1999) [PubMed: 9929978] [Abstract]
Cited for: VARIANT FA TRP-1055.
[25]"Fanconi anaemia group A (FANCA) mutations in Israeli non-Ashkenazi Jewish patients."
Tamary H., Bar-Yam R., Shalmon L., Rachavi G., Krostichevsky M., Elhasid R., Barak Y., Kapelushnik J., Yaniv I., Auerbach A.D., Zaizov R.
Br. J. Haematol. 111:338-343(2000) [PubMed: 11091222] [Abstract]
Cited for: VARIANT FA ARG-858.
[26]"Novel mutations of the FANCG gene causing alternative splicing in Japanese Fanconi anemia."
Yamada T., Tachibana A., Shimizu T., Mugishima H., Okubo M., Sasaki M.S.
J. Hum. Genet. 45:159-166(2000) [PubMed: 10807541] [Abstract]
Cited for: VARIANT FA PRO-1082.
[27]"Genetic subtyping of Fanconi anemia by comprehensive mutation screening."
Ameziane N., Errami A., Leveille F., Fontaine C., de Vries Y., van Spaendonk R.M., de Winter J.P., Pals G., Joenje H.
Hum. Mutat. 29:159-166(2008) [PubMed: 17924555] [Abstract]
Cited for: VARIANTS FA ARG-210; PRO-660; ASP-843; PRO-869; PRO-1249; LEU-1324; THR-1346 AND HIS-1400, VARIANTS GLU-761; GLN-951; TRP-951 AND ALA-1131.
[28]"DNA sequencing of a cytogenetically normal acute myeloid leukaemia genome."
Ley T.J., Mardis E.R., Ding L., Fulton B., McLellan M.D., Chen K., Dooling D., Dunford-Shore B.H., McGrath S., Hickenbotham M., Cook L., Abbott R., Larson D.E., Koboldt D.C., Pohl C., Smith S., Hawkins A., Abbott S. expand/collapse author list , Locke D., Hillier L.W., Miner T., Fulton L., Magrini V., Wylie T., Glasscock J., Conyers J., Sander N., Shi X., Osborne J.R., Minx P., Gordon D., Chinwalla A., Zhao Y., Ries R.E., Payton J.E., Westervelt P., Tomasson M.H., Watson M., Baty J., Ivanovich J., Heath S., Shannon W.D., Nagarajan R., Walter M.J., Link D.C., Graubert T.A., DiPersio J.F., Wilson R.K.
Nature 456:66-72(2008) [PubMed: 18987736] [Abstract]
Cited for: VARIANTS [LARGE SCALE ANALYSIS] ALA-266; VAL-412; SER-501; ASP-809 AND PHE-1088.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ		X99226 mRNA. Translation: CAA67610.1.
Z83067 expand/collapse EMBL AC list , Z83068, Z83069, Z83070, Z83071, Z83072, Z83073, Z83074, Z83075, Z83076, Z83077, Z83078, Z83079, Z83080, Z83081, Z83082, Z83083, Z83084, Z83085, Z83086, Z83087, Z83088, Z83089, Z83090, Z83091, Z83092, Z83093, Z83094, Z83095, Z83151 Genomic DNA. Translation: CAB05445.1.
AC005360 Genomic DNA. Translation: AAC28751.1.
AC005565 Genomic DNA. Translation: AAC33304.1.
AC005567 Genomic DNA. Translation: AAC33401.1.
AY598423 Genomic DNA. Translation: AAS99350.1.
AC092385 Genomic DNA. No translation available.
BC008979 mRNA. Translation: AAH08979.1.
BC141972 mRNA. Translation: AAI41973.1.
AJ225084 Genomic DNA. Translation: CAA12393.1.
AJ225085 Genomic DNA. Translation: CAA12394.1.
AF054569 Genomic DNA. Translation: AAC28331.1.
IPIIPI00006170.
IPI00219337.
PIRT02755.
RefSeqNP_000126.2. NM_000135.2.
NP_001018122.1. NM_001018112.1.
UniGeneHs.290154.

3D structure databases

ProteinModelPortalO15360.
ModBaseSearch...

Protein-protein interaction databases

IntActO15360. 10 interactions.
MINTMINT-96367.
STRINGO15360.

PTM databases

PhosphoSiteO15360.

Proteomic databases

PRIDEO15360.

Protocols and materials databases

DNASU2175.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000389301; ENSP00000373952; ENSG00000187741.
GeneID2175.
KEGGhsa:2175.
UCSCuc002fou.1. human.
uc002fov.1. human.

Organism-specific databases

CTD2175.
GeneCardsGC16M089803.
HGNCHGNC:3582. FANCA.
MIM227650. phenotype.
607139. gene.
neXtProtNX_O15360.
Orphanet84. Fanconi anemia.
PharmGKBPA27995.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG70694.
GeneTreeENSGT00390000007852.
HOVERGENHBG051547.
InParanoidO15360.
KOK10888.
OMAHILHPPL.
OrthoDBEOG4K0QMH.

Enzyme and pathway databases

Pathway_Interaction_DBbard1pathway. BARD1 signaling events.
ReactomeREACT_216. DNA Repair.

Gene expression databases

ArrayExpressO15360.
BgeeO15360.
GenevestigatorO15360.
GermOnlineENSG00000187741. Homo sapiens.

Family and domain databases

InterProIPR003516. Fanconia.
[Graphical view]
PfamPF03511. Fanconi_A. 1 hit.
[Graphical view]
PRINTSPR00826. FANCONIAGENE.
ProtoNetSearch...

Other

NextBio8781.
SOURCESearch...

Entry information

Entry nameFANCA_HUMAN
AccessionPrimary (citable) accession number: O15360
Secondary accession number(s): A5D923 expand/collapse secondary AC list , O75266, Q6PL10, Q92497, Q96H18, Q9UEA5, Q9UEL8, Q9UEL9, Q9UPK3, Q9Y6M2
Entry history
Integrated into UniProtKB/Swiss-Prot: December 1, 2000
Last sequence update: May 15, 2007
Last modified: April 18, 2012
This is version 114 of the entry and version 2 of the sequence. [Complete history]
Entry statusReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Relevant documents

Human chromosome 16

Human chromosome 16: entries, gene names and cross-references to MIM

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

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