Reviewed, UniProtKB/Swiss-Prot O15360 (FANCA_HUMAN)

Names and origin

Protein names

Recommended name:
    Fanconi anemia group A protein
      Short name=Protein FACA

Gene names

Name:	FANCA
Synonyms:	FAA, FACA, FANCH

Organism

Homo sapiens (Human) [Complete proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo

Protein attributes

Sequence length	1455 AA.
Sequence status	Complete.
Sequence processing	The displayed sequence is not processed.
Protein existence	Evidence 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.
Subcellular location	Nucleus. Cytoplasm. Note: The major form is nuclear. The minor form is cytoplasmic. Ref.9
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.14 Ref.15 Ref.16
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.17 Ref.18 Ref.19 Ref.20 Ref.21 Ref.22 Ref.23 Ref.24 Ref.25

Ontologies

Keywords
Biological process	DNA damage DNA repair
Cellular component	Cytoplasm Nucleus
Coding sequence diversity	Alternative splicing Polymorphism
Disease	Disease mutation Fanconi anemia
PTM	Phosphoprotein
Technical term	Complete proteome
Gene Ontology (GO)
Biological process	DNA repair Traceable author statement. Source: ProtInc protein complex assembly Traceable author statement. Source: ProtInc
Cellular component	cytoplasm Traceable author statement. Source: ProtInc nucleus Traceable author statement. Source: ProtInc
Molecular function	protein binding Inferred from physical interaction. Source: UniProtKB
Complete GO annotation...

Binary interactions

With	Entry	#Exp.	IntAct	Notes
CRK	P46108	1	EBI-81570,EBI-886
FANCF	Q9NPI8	1	EBI-81570,EBI-81589
FYN	P06241	1	EBI-81570,EBI-515315
GRB2	P62993	1	EBI-81570,EBI-401755
NCK1	P16333	1	EBI-81570,EBI-389883
PIK3R1	P27986	1	EBI-81570,EBI-79464
PLCG1	P19174	1	EBI-81570,EBI-79387
SRC	P12931	1	EBI-81570,EBI-621482

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 key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 1455	1455	Fanconi anemia group A protein		PRO_0000087179
Regions
	Motif	18 – 34	17	Nuclear localization signal Potential
Amino acid modifications
	Modified residue	849	1	Phosphoserine Ref.14
	Modified residue	850	1	Phosphoserine Ref.14
	Modified residue	858	1	Phosphoserine Ref.14
	Modified residue	1449	1	Phosphoserine Ref.15 Ref.16
Natural variations
	Alternative sequence	298 – 1455	1158	Missing in isoform 2.		VSP_007039
	Natural variant	6	1	V → D: dbSNP rs1800282.		VAR_009637
	Natural variant	8	1	N → K in FA; could be a polymorphism.		VAR_009638
	Natural variant	131	1	T → S: dbSNP rs34491278.		VAR_050982
	Natural variant	176	1	S → F: dbSNP rs35566151.		VAR_050983
	Natural variant	181	1	A → V in FA. dbSNP rs17232246.		VAR_009639
	Natural variant	210	1	L → R in FA. Ref.25		VAR_038012
	Natural variant	244	1	L → F in FA.		VAR_009640
	Natural variant	252	1	D → G in FA. dbSNP rs17225943.		VAR_009641
	Natural variant	266	1	T → A: dbSNP rs7190823. Ref.17 Ref.4 Ref.6 Ref.26		VAR_017496
	Natural variant	277	1	A → G: dbSNP rs35880318.		VAR_050984
	Natural variant	286	1	Q → R: dbSNP rs13336566.		VAR_050985
	Natural variant	412	1	A → V: dbSNP rs11646374. Ref.26		VAR_050986
	Natural variant	435	1	R → C in FA. Ref.18		VAR_009642
	Natural variant	492	1	H → R in FA. Ref.18		VAR_009643
	Natural variant	501	1	G → S Common polymorphism. dbSNP rs2239359. Ref.17 Ref.18 Ref.4 Ref.26 Ref.1 Ref.2 Ref.7		VAR_009644
	Natural variant	598	1	D → N in FA. Ref.19 Ref.20		VAR_017497
	Natural variant	643	1	P → A: dbSNP rs17232910.		VAR_050987
	Natural variant	660	1	L → P in FA. Ref.25		VAR_038013
	Natural variant	739	1	P → L		VAR_009645
	Natural variant	761	1	V → E		VAR_038014
	Natural variant	809	1	G → D Common polymorphism. dbSNP rs7195066. Ref.17 Ref.18 Ref.4 Ref.26		VAR_009646
	Natural variant	817	1	L → P in FA. Ref.18		VAR_009647
	Natural variant	843	1	Y → D in FA. Ref.25		VAR_038015
	Natural variant	845	1	L → P in FA.		VAR_009648
	Natural variant	858	1	S → R in FA. dbSNP rs17233141. Ref.20 Ref.23		VAR_017498
	Natural variant	869	1	Q → P in FA. Ref.25		VAR_038016
	Natural variant	951	1	R → Q		VAR_038017
	Natural variant	951	1	R → W		VAR_038018
	Natural variant	1055	1	R → L in FA. Ref.18		VAR_009649
	Natural variant	1055	1	R → W in FA. Ref.22		VAR_017499
	Natural variant	1082	1	L → P in FA. Ref.24		VAR_017500
	Natural variant	1088	1	S → F in FA. dbSNP rs17233497. Ref.20 Ref.26		VAR_017501
	Natural variant	1110	1	H → P in FA; loss of function. Ref.19 Ref.21		VAR_009650
	Natural variant	1117	1	R → G in FA; loss of function. Ref.18 Ref.21		VAR_009651
	Natural variant	1128	1	Q → E in FA. Ref.18		VAR_009652
	Natural variant	1131	1	T → A in FA. Ref.18 Ref.25		VAR_009653
	Natural variant	1249	1	L → P in FA; possibly hypomorphic allele. Ref.25		VAR_038019
	Natural variant	1262	1	F → L in FA. Ref.19		VAR_017502
	Natural variant	1263	1	Missing in FA.		VAR_009654
	Natural variant	1287	1	V → I: dbSNP rs17227354.		VAR_009655
	Natural variant	1302	1	W → R in FA. Ref.18		VAR_009656
	Natural variant	1324	1	P → L in FA. Ref.19 Ref.25		VAR_017505
	Natural variant	1328	1	T → A: dbSNP rs9282681. Ref.18		VAR_009657
	Natural variant	1346	1	A → T in FA; uncertain pathological significance. Ref.25		VAR_038020
	Natural variant	1359	1	D → Y in FA. Ref.17		VAR_017503
	Natural variant	1360	1	M → I in FA. Ref.19		VAR_017504
	Natural variant	1400	1	R → H in FA; possibly hypomorphic allele. Ref.25		VAR_038021
	Natural variant	1417	1	H → D in FA. dbSNP rs17227403. Ref.18		VAR_009658
Experimental info
	Sequence conflict	717	1	M → I in CAA67610. Ref.1

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified May 15, 2007. Version 2. Checksum: 5A1918F2BEF4BC50	FASTA	1,455	162,775
	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
	Isoform 2. Checksum: B48C851402C58AB8	FASTA	297	32,984
	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 MFVLRGFQKN SDLRRTVEPE KMPQVTVDVL QRMLIFALDA LAAGVQEESS THKIVRC

References

	« Hide 'large scale' referencesShow '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), VARIANT SER-501. 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. , 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. , 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]	"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.
[13]	"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.
[14]	"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: Epithelium.
[15]	"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.
[16]	"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.
[17]	"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.
[18]	"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.
[19]	"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.
[20]	"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. , 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.
[21]	"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.
[22]	"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.
[23]	"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.
[24]	"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.
[25]	"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.
[26]	"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. , 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.

Web resources

Atlas of Genetics and Cytogenetics in Oncology and Haematology

Fanconi Anemia Mutation Database

GeneReviews

NIEHS-SNPs

Cross-references

Sequence databases
EMBLGenBankDDBJ	X99226 mRNA. Translation: CAA67610.1. Z83067 , 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.
IPI	IPI00006170. IPI00219337.
PIR	T02755.
RefSeq	NP_000126.2. NP_001018122.1.
UniGene	Hs.567267
3D structure databases
ModBase	Search...
Protein-protein interaction databases
IntAct	O15360. 11 interactions.
STRING	O15360.
PTM databases
PhosphoSite	O15360.
Proteomic databases
PRIDE	O15360.
Genome annotation databases
Ensembl	ENST00000305699; ENSP00000306281; ENSG00000187741; Homo sapiens. [Genome view] ENST00000389301; ENSP00000373952; ENSG00000187741; Homo sapiens. [Genome view] ENST00000389302; ENSP00000373953; ENSG00000187741; Homo sapiens. [Genome view]
GeneID	2175.
KEGG	hsa:2175.
UCSC	uc002fou.1. human. uc002fow.1. human.
Organism-specific databases
CTD	2175.
GeneCards	GC16M088332.
H-InvDB	HIX0038576.
HGNC	HGNC:3582. FANCA.
MIM	227650. phenotype. 607139. gene.
Orphanet	84. Fanconi anemia.
PharmGKB	PA27995.
GenAtlas	Search...
Phylogenomic databases
HOVERGEN	O15360.
OMA	HFLPALL.
Enzyme and pathway databases
Pathway_Interaction_DB	bard1pathway. BARD1 signaling events.
Reactome	REACT_216. DNA Repair.
Gene expression databases
ArrayExpress	O15360.
Bgee	O15360.
Genevestigator	O15360.
GermOnline	ENSG00000187741. Homo sapiens.
Family and domain databases
InterPro	IPR003516. Fanconia. [Graphical view]
Pfam	PF03511. Fanconi_A. 1 hit. [Graphical view]
PRINTS	PR00826. FANCONIAGENE.
ProtoNet	Search...
Other Resources
NextBio	8781.
SOURCE	Search...

Entry information

Entry name

FANCA_HUMAN

Accession

Primary (citable) accession number: O15360
Secondary accession number(s): A5D923 , 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:	November 3, 2009
This is version 94 of the entry and version 2 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation project

HPI (Human Proteome Initiative)

Disclaimer

Any 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.