O15360 (FANCA_HUMAN) Reviewed, UniProtKB/Swiss-Prot

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) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	1455 AA.
Sequence status	Complete.
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. 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. Interacts with FAAP20/C1orf86; interaction is direct. Ref.10 Ref.12 Ref.13 Ref.14 Ref.16 Ref.18 Ref.19 Ref.20
Subcellular location	Nucleus. Cytoplasm. Note: The major form is nuclear. The minor form is cytoplasmic. Ref.9 Ref.16
Post-translational modification	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
Involvement in disease	Fanconi anemia (FA) [MIM:227650]: A genetically heterogeneous 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. Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.10 Ref.12 Ref.13 Ref.14 Ref.18 Ref.19 Ref.20 Ref.21 Ref.22 Ref.23 Ref.24 Ref.25 Ref.26 Ref.27 Ref.28 Ref.29

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 Reference proteome
Gene Ontology (GO)
Biological_process	DNA repair Traceable author statement. Source: Reactome female gonad development Inferred from electronic annotation. Source: Compara male gonad development Inferred from electronic annotation. Source: Compara male meiosis Inferred from electronic annotation. Source: Compara protein complex assembly Traceable author statement PubMed 9398857. Source: ProtInc regulation of cell proliferation Inferred from electronic annotation. Source: Compara
Cellular_component	Fanconi anaemia nuclear complex Inferred from direct assay PubMed 20347428Ref.20Ref.18Ref.19. Source: UniProtKB cytoplasm Traceable author statement PubMed 9398857. Source: ProtInc
Complete GO annotation...

Binary interactions

With	Entry	#Exp.	IntAct	Notes
FANCF	Q9NPI8	5	EBI-81570,EBI-81589
FANCG	O15287	6	EBI-81570,EBI-81610
GRB2	P62993	2	EBI-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 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	1449	1	Phosphoserine Ref.15 Ref.17
Natural variations
	Alternative sequence	298 – 1455	1158	Missing in isoform 2.		VSP_007039
	Natural variant	6	1	V → D. Corresponds to variant rs1800282 [ dbSNP | Ensembl ].		VAR_009637
	Natural variant	8	1	N → K in FA; unknown pathological significance.		VAR_009638
	Natural variant	131	1	T → S. Corresponds to variant rs34491278 [ dbSNP | Ensembl ].		VAR_050982
	Natural variant	176	1	S → F. Corresponds to variant rs35566151 [ dbSNP | Ensembl ].		VAR_050983
	Natural variant	181	1	A → V in FA. Corresponds to variant rs17232246 [ dbSNP | Ensembl ].		VAR_009639
	Natural variant	210	1	L → R in FA. Ref.29		VAR_038012
	Natural variant	244	1	L → F in FA.		VAR_009640
	Natural variant	252	1	D → G in FA. Corresponds to variant rs17225943 [ dbSNP | Ensembl ].		VAR_009641
	Natural variant	266	1	T → A. Ref.4 Ref.6 Ref.21 Ref.30 Corresponds to variant rs7190823 [ dbSNP | Ensembl ].		VAR_017496
	Natural variant	277	1	A → G. Corresponds to variant rs35880318 [ dbSNP | Ensembl ].		VAR_050984
	Natural variant	286	1	Q → R. Corresponds to variant rs13336566 [ dbSNP | Ensembl ].		VAR_050985
	Natural variant	412	1	A → V. Ref.30 Corresponds to variant rs11646374 [ dbSNP | Ensembl ].		VAR_050986
	Natural variant	435	1	R → C in FA. Ref.22		VAR_009642
	Natural variant	492	1	H → R in FA. Ref.22		VAR_009643
	Natural variant	501	1	G → S Common polymorphism. Ref.1 Ref.2 Ref.4 Ref.7 Ref.21 Ref.22 Ref.30 Corresponds to variant rs2239359 [ dbSNP | Ensembl ].		VAR_009644
	Natural variant	598	1	D → N in FA. Ref.23 Ref.24		VAR_017497
	Natural variant	643	1	P → A. Corresponds to variant rs17232910 [ dbSNP | Ensembl ].		VAR_050987
	Natural variant	660	1	L → P in FA. Ref.29		VAR_038013
	Natural variant	717	1	M → I. Ref.1 Corresponds to variant rs1131660 [ dbSNP | Ensembl ].		VAR_061649
	Natural variant	739	1	P → L. Ref.22 Corresponds to variant rs45441106 [ dbSNP | Ensembl ].		VAR_009645
	Natural variant	761	1	V → E. Ref.29		VAR_038014
	Natural variant	809	1	G → D Common polymorphism. Ref.4 Ref.21 Ref.22 Ref.30 Corresponds to variant rs7195066 [ dbSNP | Ensembl ].		VAR_009646
	Natural variant	817	1	L → P in FA. Ref.22		VAR_009647
	Natural variant	843	1	Y → D in FA. Ref.29		VAR_038015
	Natural variant	845	1	L → P in FA.		VAR_009648
	Natural variant	858	1	S → R in FA. Ref.24 Ref.27 Corresponds to variant rs17233141 [ dbSNP | Ensembl ].		VAR_017498
	Natural variant	869	1	Q → P in FA. Ref.29		VAR_038016
	Natural variant	951	1	R → Q. Ref.29		VAR_038017
	Natural variant	951	1	R → W. Ref.29		VAR_038018
	Natural variant	1055	1	R → L in FA. Ref.22		VAR_009649
	Natural variant	1055	1	R → W in FA. Ref.26		VAR_017499
	Natural variant	1082	1	L → P in FA. Ref.28		VAR_017500
	Natural variant	1088	1	S → F in FA. Ref.24 Ref.30 Corresponds to variant rs17233497 [ dbSNP | Ensembl ].		VAR_017501
	Natural variant	1110	1	H → P in FA; loss of function. Ref.23 Ref.25		VAR_009650
	Natural variant	1117	1	R → G in FA; loss of function. Ref.22 Ref.25		VAR_009651
	Natural variant	1128	1	Q → E in FA. Ref.22		VAR_009652
	Natural variant	1131	1	T → A in FA. Ref.22 Ref.29		VAR_009653
	Natural variant	1249	1	L → P in FA; possibly hypomorphic allele. Ref.29		VAR_038019
	Natural variant	1262	1	F → L in FA. Ref.23		VAR_017502
	Natural variant	1263	1	Missing in FA. Ref.22 Ref.23		VAR_009654
	Natural variant	1287	1	V → I. Corresponds to variant rs17227354 [ dbSNP | Ensembl ].		VAR_009655
	Natural variant	1302	1	W → R in FA. Ref.22		VAR_009656
	Natural variant	1324	1	P → L in FA. Ref.23 Ref.29		VAR_017505
	Natural variant	1328	1	T → A. Ref.22 Corresponds to variant rs9282681 [ dbSNP | Ensembl ].		VAR_009657
	Natural variant	1346	1	A → T in FA; uncertain pathological significance. Ref.29 Corresponds to variant rs17227396 [ dbSNP | Ensembl ].		VAR_038020
	Natural variant	1359	1	D → Y in FA. Ref.21		VAR_017503
	Natural variant	1360	1	M → I in FA. Ref.23		VAR_017504
	Natural variant	1400	1	R → H in FA; possibly hypomorphic allele. Ref.29		VAR_038021
	Natural variant	1417	1	H → D in FA. Ref.22 Corresponds to variant rs17227403 [ dbSNP | Ensembl ].		VAR_009658

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 [UniParc]. 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] [Europe PMC] [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] [Europe PMC] [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] [Europe PMC] [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] [Europe PMC] [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] [Europe PMC] [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] [Europe PMC] [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] [Europe PMC] [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] [Europe PMC] [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] [Europe PMC] [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] [Europe PMC] [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] [Europe PMC] [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] [Europe PMC] [Abstract] Cited for: IDENTIFICATION IN A COMPLEX WITH FANCB; FANCC; FANCE; FANCF; FANCG; FANCL AND FANCM.
[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] [Europe PMC] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-1449, MASS SPECTROMETRY. Tissue: Embryonic kidney.
[16]	"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] [Europe PMC] [Abstract] Cited for: INTERACTION WITH HES1, SUBCELLULAR LOCATION.
[17]	"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] [Europe PMC] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-1449, MASS SPECTROMETRY. Tissue: Cervix carcinoma.
[18]	"FAAP20: a novel ubiquitin-binding FA nuclear core-complex protein required for functional integrity of the FA-BRCA DNA repair pathway." Ali A.M., Pradhan A., Singh T.R., Du C., Li J., Wahengbam K., Grassman E., Auerbach A.D., Pang Q., Meetei A.R. Blood 119:3285-3294(2012) [PubMed] [Europe PMC] [Abstract] Cited for: IDENTIFICATION IN THE FA COMPLEX, INTERACTION WITH C1ORF86.
[19]	"A ubiquitin-binding protein, FAAP20, links RNF8-mediated ubiquitination to the Fanconi anemia DNA repair network." Yan Z., Guo R., Paramasivam M., Shen W., Ling C., Fox D. III, Wang Y., Oostra A.B., Kuehl J., Lee D.Y., Takata M., Hoatlin M.E., Schindler D., Joenje H., de Winter J.P., Li L., Seidman M.M., Wang W. Mol. Cell 47:61-75(2012) [PubMed] [Europe PMC] [Abstract] Cited for: IDENTIFICATION IN THE FA COMPLEX, INTERACTION WITH C1ORF86.
[20]	"Regulation of Rev1 by the Fanconi anemia core complex." Kim H., Yang K., Dejsuphong D., D'Andrea A.D. Nat. Struct. Mol. Biol. 19:164-170(2012) [PubMed] [Europe PMC] [Abstract] Cited for: IDENTIFICATION IN THE FA COMPLEX.
[21]	"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] [Europe PMC] [Abstract] Cited for: VARIANT FA TYR-1359, VARIANTS ALA-266; SER-501 AND ASP-809.
[22]	"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] [Europe PMC] [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.
[23]	"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] [Europe PMC] [Abstract] Cited for: VARIANTS FA ASN-598; PRO-1110; LEU-1262; PHE-1263 DEL; LEU-1324 AND ILE-1360.
[24]	"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] [Europe PMC] [Abstract] Cited for: VARIANTS FA ASN-598; ARG-858 AND PHE-1088.
[25]	"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] [Europe PMC] [Abstract] Cited for: VARIANTS FA PRO-1110 AND GLY-1117.
[26]	"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] [Europe PMC] [Abstract] Cited for: VARIANT FA TRP-1055.
[27]	"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] [Europe PMC] [Abstract] Cited for: VARIANT FA ARG-858.
[28]	"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] [Europe PMC] [Abstract] Cited for: VARIANT FA PRO-1082.
[29]	"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] [Europe PMC] [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.
[30]	"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] [Europe PMC] [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
EMBL GenBank DDBJ	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. NM_000135.2. NP_001018122.1. NM_001018112.1.
UniGene	Hs.744083.
3D structure databases
ProteinModelPortal	O15360.
ModBase	Search...
Protein-protein interaction databases
DIP	DIP-32650N.
IntAct	O15360. 10 interactions.
MINT	MINT-96367.
PTM databases
PhosphoSite	O15360.
Proteomic databases
PaxDb	O15360.
PRIDE	O15360.
Protocols and materials databases
DNASU	2175.
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000389301; ENSP00000373952; ENSG00000187741. ENST00000389302; ENSP00000373953; ENSG00000187741.
GeneID	2175.
KEGG	hsa:2175.
UCSC	uc002fou.1. human. uc002fov.1. human.
Organism-specific databases
CTD	2175.
GeneCards	GC16M089803.
HGNC	HGNC:3582. FANCA.
MIM	227650. phenotype. 607139. gene.
neXtProt	NX_O15360.
Orphanet	84. Fanconi anemia.
PharmGKB	PA27995.
GenAtlas	Search...
Phylogenomic databases
eggNOG	NOG70694.
HOVERGEN	HBG051547.
InParanoid	O15360.
KO	K10888.
OMA	SYSLCKF.
OrthoDB	EOG4K0QMH.
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
ChiTaRS	FANCA. human.
GenomeRNAi	2175.
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:	May 29, 2013
This is version 126 of the entry and version 2 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

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.