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O15360

- FANCA_HUMAN

UniProt

O15360 - FANCA_HUMAN

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Protein

Fanconi anemia group A protein

Gene

FANCA

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli

Functioni

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.

GO - Biological processi

  1. DNA repair Source: Reactome
  2. female gonad development Source: Ensembl
  3. male gonad development Source: Ensembl
  4. male meiosis Source: Ensembl
  5. protein complex assembly Source: ProtInc
  6. regulation of cell proliferation Source: Ensembl
Complete GO annotation...

Keywords - Biological processi

DNA damage, DNA repair

Enzyme and pathway databases

ReactomeiREACT_18410. Fanconi Anemia pathway.

Names & Taxonomyi

Protein namesi
Recommended name:
Fanconi anemia group A protein
Short name:
Protein FACA
Gene namesi
Name:FANCA
Synonyms:FAA, FACA, FANCH
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 16

Organism-specific databases

HGNCiHGNC:3582. FANCA.

Subcellular locationi

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

GO - Cellular componenti

  1. cytoplasm Source: HPA
  2. Fanconi anaemia nuclear complex Source: UniProtKB
  3. nucleolus Source: HPA
  4. nucleoplasm Source: Reactome
  5. nucleus Source: BHF-UCL
Complete GO annotation...

Keywords - Cellular componenti

Cytoplasm, Nucleus

Pathology & Biotechi

Involvement in diseasei

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.9 Publications
Note: The disease is caused by mutations affecting the gene represented in this entry.
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti8 – 81N → K in FA; unknown pathological significance.
Corresponds to variant rs76275444 [ dbSNP | Ensembl ].
VAR_009638
Natural varianti181 – 1811A → V in FA.
Corresponds to variant rs17232246 [ dbSNP | Ensembl ].
VAR_009639
Natural varianti210 – 2101L → R in FA. 1 Publication
VAR_038012
Natural varianti244 – 2441L → F in FA.
VAR_009640
Natural varianti252 – 2521D → G in FA.
Corresponds to variant rs17225943 [ dbSNP | Ensembl ].
VAR_009641
Natural varianti435 – 4351R → C in FA. 1 Publication
VAR_009642
Natural varianti492 – 4921H → R in FA. 1 Publication
VAR_009643
Natural varianti598 – 5981D → N in FA. 2 Publications
VAR_017497
Natural varianti660 – 6601L → P in FA. 1 Publication
VAR_038013
Natural varianti817 – 8171L → P in FA. 1 Publication
VAR_009647
Natural varianti843 – 8431Y → D in FA. 1 Publication
VAR_038015
Natural varianti845 – 8451L → P in FA.
VAR_009648
Natural varianti858 – 8581S → R in FA. 2 Publications
Corresponds to variant rs17233141 [ dbSNP | Ensembl ].
VAR_017498
Natural varianti869 – 8691Q → P in FA. 1 Publication
VAR_038016
Natural varianti1055 – 10551R → L in FA. 1 Publication
VAR_009649
Natural varianti1055 – 10551R → W in FA. 1 Publication
VAR_017499
Natural varianti1082 – 10821L → P in FA. 1 Publication
VAR_017500
Natural varianti1088 – 10881S → F in FA. 2 Publications
Corresponds to variant rs17233497 [ dbSNP | Ensembl ].
VAR_017501
Natural varianti1110 – 11101H → P in FA; loss of function. 2 Publications
VAR_009650
Natural varianti1117 – 11171R → G in FA; loss of function. 2 Publications
VAR_009651
Natural varianti1128 – 11281Q → E in FA. 1 Publication
VAR_009652
Natural varianti1131 – 11311T → A in FA. 2 Publications
VAR_009653
Natural varianti1249 – 12491L → P in FA; possibly hypomorphic allele. 1 Publication
VAR_038019
Natural varianti1262 – 12621F → L in FA. 1 Publication
VAR_017502
Natural varianti1263 – 12631Missing in FA. 2 Publications
VAR_009654
Natural varianti1302 – 13021W → R in FA. 1 Publication
VAR_009656
Natural varianti1324 – 13241P → L in FA. 2 Publications
Corresponds to variant rs182657062 [ dbSNP | Ensembl ].
VAR_017505
Natural varianti1346 – 13461A → T in FA; uncertain pathological significance. 1 Publication
Corresponds to variant rs17227396 [ dbSNP | Ensembl ].
VAR_038020
Natural varianti1359 – 13591D → Y in FA. 1 Publication
VAR_017503
Natural varianti1360 – 13601M → I in FA. 1 Publication
VAR_017504
Natural varianti1400 – 14001R → H in FA; possibly hypomorphic allele. 1 Publication
Corresponds to variant rs149851163 [ dbSNP | Ensembl ].
VAR_038021
Natural varianti1417 – 14171H → D in FA. 1 Publication
Corresponds to variant rs17227403 [ dbSNP | Ensembl ].
VAR_009658

Keywords - Diseasei

Disease mutation, Fanconi anemia

Organism-specific databases

MIMi227650. phenotype.
Orphaneti84. Fanconi anemia.
PharmGKBiPA27995.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 14551455Fanconi anemia group A proteinPRO_0000087179Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Modified residuei1449 – 14491Phosphoserine2 Publications

Post-translational modificationi

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.3 Publications

Keywords - PTMi

Phosphoprotein

Proteomic databases

MaxQBiO15360.
PaxDbiO15360.
PRIDEiO15360.

PTM databases

PhosphoSiteiO15360.

Expressioni

Gene expression databases

BgeeiO15360.
ExpressionAtlasiO15360. baseline and differential.
GenevestigatoriO15360.

Organism-specific databases

HPAiHPA053734.

Interactioni

Subunit structurei

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.8 Publications

Binary interactionsi

WithEntry#Exp.IntActNotes
FAAP100Q0VG063EBI-81570,EBI-2557990
FANCFQ9NPI85EBI-81570,EBI-81589
FANCGO1528710EBI-81570,EBI-81610
GRB2P629932EBI-81570,EBI-401755

Protein-protein interaction databases

BioGridi108472. 71 interactions.
DIPiDIP-32650N.
IntActiO15360. 16 interactions.
MINTiMINT-96367.

Structurei

3D structure databases

ProteinModelPortaliO15360.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Motif

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Motifi18 – 3417Nuclear localization signalSequence AnalysisAdd
BLAST

Phylogenomic databases

eggNOGiNOG70694.
GeneTreeiENSGT00390000007852.
HOVERGENiHBG051547.
InParanoidiO15360.
KOiK10888.
OMAiSYSLCKF.
OrthoDBiEOG7X0VG6.
PhylomeDBiO15360.
TreeFamiTF333412.

Family and domain databases

InterProiIPR003516. Fanconia.
[Graphical view]
PfamiPF03511. Fanconi_A. 1 hit.
[Graphical view]
PRINTSiPR00826. FANCONIAGENE.

Sequences (3)i

Sequence statusi: Complete.

This entry describes 3 isoformsi produced by alternative splicing. Align

Isoform 1 (identifier: O15360-1) [UniParc]FASTAAdd to Basket

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.

« Hide

        10         20         30         40         50
MSDSWVPNSA SGQDPGGRRR AWAELLAGRV KREKYNPERA QKLKESAVRL
60 70 80 90 100
LRSHQDLNAL LLEVEGPLCK KLSLSKVIDC DSSEAYANHS SSFIGSALQD
110 120 130 140 150
QASRLGVPVG ILSAGMVASS VGQICTAPAE TSHPVLLTVE QRKKLSSLLE
160 170 180 190 200
FAQYLLAHSM FSRLSFCQEL WKIQSSLLLE AVWHLHVQGI VSLQELLESH
210 220 230 240 250
PDMHAVGSWL FRNLCCLCEQ MEASCQHADV ARAMLSDFVQ MFVLRGFQKN
260 270 280 290 300
SDLRRTVEPE KMPQVTVDVL QRMLIFALDA LAAGVQEESS THKIVRCWFG
310 320 330 340 350
VFSGHTLGSV ISTDPLKRFF SHTLTQILTH SPVLKASDAV QMQREWSFAR
360 370 380 390 400
THPLLTSLYR RLFVMLSAEE LVGHLQEVLE TQEVHWQRVL SFVSALVVCF
410 420 430 440 450
PEAQQLLEDW VARLMAQAFE SCQLDSMVTA FLVVRQAALE GPSAFLSYAD
460 470 480 490 500
WFKASFGSTR GYHGCSKKAL VFLFTFLSEL VPFESPRYLQ VHILHPPLVP
510 520 530 540 550
GKYRSLLTDY ISLAKTRLAD LKVSIENMGL YEDLSSAGDI TEPHSQALQD
560 570 580 590 600
VEKAIMVFEH TGNIPVTVME ASIFRRPYYV SHFLPALLTP RVLPKVPDSR
610 620 630 640 650
VAFIESLKRA DKIPPSLYST YCQACSAAEE KPEDAALGVR AEPNSAEEPL
660 670 680 690 700
GQLTAALGEL RASMTDPSQR DVISAQVAVI SERLRAVLGH NEDDSSVEIS
710 720 730 740 750
KIQLSINTPR LEPREHMAVD LLLTSFCQNL MAASSVAPPE RQGPWAALFV
760 770 780 790 800
RTMCGRVLPA VLTRLCQLLR HQGPSLSAPH VLGLAALAVH LGESRSALPE
810 820 830 840 850
VDVGPPAPGA GLPVPALFDS LLTCRTRDSL FFCLKFCTAA ISYSLCKFSS
860 870 880 890 900
QSRDTLCSCL SPGLIKKFQF LMFRLFSEAR QPLSEEDVAS LSWRPLHLPS
910 920 930 940 950
ADWQRAALSL WTHRTFREVL KEEDVHLTYQ DWLHLELEIQ PEADALSDTE
960 970 980 990 1000
RQDFHQWAIH EHFLPESSAS GGCDGDLQAA CTILVNALMD FHQSSRSYDH
1010 1020 1030 1040 1050
SENSDLVFGG RTGNEDIISR LQEMVADLEL QQDLIVPLGH TPSQEHFLFE
1060 1070 1080 1090 1100
IFRRRLQALT SGWSVAASLQ RQRELLMYKR ILLRLPSSVL CGSSFQAEQP
1110 1120 1130 1140 1150
ITARCEQFFH LVNSEMRNFC SHGGALTQDI TAHFFRGLLN ACLRSRDPSL
1160 1170 1180 1190 1200
MVDFILAKCQ TKCPLILTSA LVWWPSLEPV LLCRWRRHCQ SPLPRELQKL
1210 1220 1230 1240 1250
QEGRQFASDF LSPEAASPAP NPDWLSAAAL HFAIQQVREE NIRKQLKKLD
1260 1270 1280 1290 1300
CEREELLVFL FFFSLMGLLS SHLTSNSTTD LPKAFHVCAA ILECLEKRKI
1310 1320 1330 1340 1350
SWLALFQLTE SDLRLGRLLL RVAPDQHTRL LPFAFYSLLS YFHEDAAIRE
1360 1370 1380 1390 1400
EAFLHVAVDM YLKLVQLFVA GDTSTVSPPA GRSLELKGQG NPVELITKAR
1410 1420 1430 1440 1450
LFLLQLIPRC PKKSFSHVAE LLADRGDCDP EVSAALQSRQ QAAPDADLSQ

EPHLF
Length:1,455
Mass (Da):162,775
Last modified:May 15, 2007 - v2
Checksum:i5A1918F2BEF4BC50
GO
Isoform 2 (identifier: O15360-2) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     298-1455: Missing.

Note: No experimental confirmation available.

Show »
Length:297
Mass (Da):32,984
Checksum:iB48C851402C58AB8
GO
Isoform 3 (identifier: O15360-3) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     1390-1455: GNPVELITKA...ADLSQEPHLF → AGQPRGTDNKSSSFSAAVNTSVPEKELLTRGRAAG

Note: No experimental confirmation available.

Show »
Length:1,424
Mass (Da):159,083
Checksum:i8191730DAE4E24C8
GO

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti6 – 61V → D.
Corresponds to variant rs1800282 [ dbSNP | Ensembl ].
VAR_009637
Natural varianti8 – 81N → K in FA; unknown pathological significance.
Corresponds to variant rs76275444 [ dbSNP | Ensembl ].
VAR_009638
Natural varianti131 – 1311T → S.
Corresponds to variant rs34491278 [ dbSNP | Ensembl ].
VAR_050982
Natural varianti176 – 1761S → F.
Corresponds to variant rs35566151 [ dbSNP | Ensembl ].
VAR_050983
Natural varianti181 – 1811A → V in FA.
Corresponds to variant rs17232246 [ dbSNP | Ensembl ].
VAR_009639
Natural varianti210 – 2101L → R in FA. 1 Publication
VAR_038012
Natural varianti244 – 2441L → F in FA.
VAR_009640
Natural varianti252 – 2521D → G in FA.
Corresponds to variant rs17225943 [ dbSNP | Ensembl ].
VAR_009641
Natural varianti266 – 2661T → A.4 Publications
Corresponds to variant rs7190823 [ dbSNP | Ensembl ].
VAR_017496
Natural varianti277 – 2771A → G.
Corresponds to variant rs35880318 [ dbSNP | Ensembl ].
VAR_050984
Natural varianti286 – 2861Q → R.
Corresponds to variant rs13336566 [ dbSNP | Ensembl ].
VAR_050985
Natural varianti412 – 4121A → V.1 Publication
Corresponds to variant rs11646374 [ dbSNP | Ensembl ].
VAR_050986
Natural varianti435 – 4351R → C in FA. 1 Publication
VAR_009642
Natural varianti492 – 4921H → R in FA. 1 Publication
VAR_009643
Natural varianti501 – 5011G → S Common polymorphism. 7 Publications
Corresponds to variant rs2239359 [ dbSNP | Ensembl ].
VAR_009644
Natural varianti598 – 5981D → N in FA. 2 Publications
VAR_017497
Natural varianti643 – 6431P → A.
Corresponds to variant rs17232910 [ dbSNP | Ensembl ].
VAR_050987
Natural varianti660 – 6601L → P in FA. 1 Publication
VAR_038013
Natural varianti717 – 7171M → I.2 Publications
Corresponds to variant rs1131660 [ dbSNP | Ensembl ].
VAR_061649
Natural varianti739 – 7391P → L.1 Publication
Corresponds to variant rs45441106 [ dbSNP | Ensembl ].
VAR_009645
Natural varianti761 – 7611V → E.1 Publication
VAR_038014
Natural varianti809 – 8091G → D Common polymorphism. 4 Publications
Corresponds to variant rs7195066 [ dbSNP | Ensembl ].
VAR_009646
Natural varianti817 – 8171L → P in FA. 1 Publication
VAR_009647
Natural varianti843 – 8431Y → D in FA. 1 Publication
VAR_038015
Natural varianti845 – 8451L → P in FA.
VAR_009648
Natural varianti858 – 8581S → R in FA. 2 Publications
Corresponds to variant rs17233141 [ dbSNP | Ensembl ].
VAR_017498
Natural varianti869 – 8691Q → P in FA. 1 Publication
VAR_038016
Natural varianti951 – 9511R → Q.1 Publication
VAR_038017
Natural varianti951 – 9511R → W.1 Publication
VAR_038018
Natural varianti1055 – 10551R → L in FA. 1 Publication
VAR_009649
Natural varianti1055 – 10551R → W in FA. 1 Publication
VAR_017499
Natural varianti1082 – 10821L → P in FA. 1 Publication
VAR_017500
Natural varianti1088 – 10881S → F in FA. 2 Publications
Corresponds to variant rs17233497 [ dbSNP | Ensembl ].
VAR_017501
Natural varianti1110 – 11101H → P in FA; loss of function. 2 Publications
VAR_009650
Natural varianti1117 – 11171R → G in FA; loss of function. 2 Publications
VAR_009651
Natural varianti1128 – 11281Q → E in FA. 1 Publication
VAR_009652
Natural varianti1131 – 11311T → A in FA. 2 Publications
VAR_009653
Natural varianti1249 – 12491L → P in FA; possibly hypomorphic allele. 1 Publication
VAR_038019
Natural varianti1262 – 12621F → L in FA. 1 Publication
VAR_017502
Natural varianti1263 – 12631Missing in FA. 2 Publications
VAR_009654
Natural varianti1287 – 12871V → I.
Corresponds to variant rs17227354 [ dbSNP | Ensembl ].
VAR_009655
Natural varianti1302 – 13021W → R in FA. 1 Publication
VAR_009656
Natural varianti1324 – 13241P → L in FA. 2 Publications
Corresponds to variant rs182657062 [ dbSNP | Ensembl ].
VAR_017505
Natural varianti1328 – 13281T → A.1 Publication
Corresponds to variant rs9282681 [ dbSNP | Ensembl ].
VAR_009657
Natural varianti1346 – 13461A → T in FA; uncertain pathological significance. 1 Publication
Corresponds to variant rs17227396 [ dbSNP | Ensembl ].
VAR_038020
Natural varianti1359 – 13591D → Y in FA. 1 Publication
VAR_017503
Natural varianti1360 – 13601M → I in FA. 1 Publication
VAR_017504
Natural varianti1400 – 14001R → H in FA; possibly hypomorphic allele. 1 Publication
Corresponds to variant rs149851163 [ dbSNP | Ensembl ].
VAR_038021
Natural varianti1417 – 14171H → D in FA. 1 Publication
Corresponds to variant rs17227403 [ dbSNP | Ensembl ].
VAR_009658

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei298 – 14551158Missing in isoform 2. 1 PublicationVSP_007039Add
BLAST
Alternative sequencei1390 – 145566GNPVE…EPHLF → AGQPRGTDNKSSSFSAAVNT SVPEKELLTRGRAAG in isoform 3. 1 PublicationVSP_054682Add
BLAST

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
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.
AK299282 mRNA. Translation: BAG61299.1.
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.
CCDSiCCDS32515.1. [O15360-1]
CCDS42221.1. [O15360-2]
CCDS67099.1. [O15360-3]
PIRiT02755.
RefSeqiNP_000126.2. NM_000135.2. [O15360-1]
NP_001018122.1. NM_001018112.1. [O15360-2]
NP_001273096.1. NM_001286167.1. [O15360-3]
UniGeneiHs.744083.

Genome annotation databases

EnsembliENST00000389301; ENSP00000373952; ENSG00000187741. [O15360-1]
ENST00000389302; ENSP00000373953; ENSG00000187741. [O15360-2]
ENST00000568369; ENSP00000456829; ENSG00000187741. [O15360-3]
GeneIDi2175.
KEGGihsa:2175.
UCSCiuc002fou.1. human. [O15360-1]
uc002fow.1. human. [O15360-2]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Web resourcesi

Atlas of Genetics and Cytogenetics in Oncology and Haematology
Fanconi Anemia Mutation Database
NIEHS-SNPs

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
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 .
AK299282 mRNA. Translation: BAG61299.1 .
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 .
CCDSi CCDS32515.1. [O15360-1 ]
CCDS42221.1. [O15360-2 ]
CCDS67099.1. [O15360-3 ]
PIRi T02755.
RefSeqi NP_000126.2. NM_000135.2. [O15360-1 ]
NP_001018122.1. NM_001018112.1. [O15360-2 ]
NP_001273096.1. NM_001286167.1. [O15360-3 ]
UniGenei Hs.744083.

3D structure databases

ProteinModelPortali O15360.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 108472. 71 interactions.
DIPi DIP-32650N.
IntActi O15360. 16 interactions.
MINTi MINT-96367.

PTM databases

PhosphoSitei O15360.

Proteomic databases

MaxQBi O15360.
PaxDbi O15360.
PRIDEi O15360.

Protocols and materials databases

DNASUi 2175.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000389301 ; ENSP00000373952 ; ENSG00000187741 . [O15360-1 ]
ENST00000389302 ; ENSP00000373953 ; ENSG00000187741 . [O15360-2 ]
ENST00000568369 ; ENSP00000456829 ; ENSG00000187741 . [O15360-3 ]
GeneIDi 2175.
KEGGi hsa:2175.
UCSCi uc002fou.1. human. [O15360-1 ]
uc002fow.1. human. [O15360-2 ]

Organism-specific databases

CTDi 2175.
GeneCardsi GC16M089803.
GeneReviewsi FANCA.
HGNCi HGNC:3582. FANCA.
HPAi HPA053734.
MIMi 227650. phenotype.
607139. gene.
neXtProti NX_O15360.
Orphaneti 84. Fanconi anemia.
PharmGKBi PA27995.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG70694.
GeneTreei ENSGT00390000007852.
HOVERGENi HBG051547.
InParanoidi O15360.
KOi K10888.
OMAi SYSLCKF.
OrthoDBi EOG7X0VG6.
PhylomeDBi O15360.
TreeFami TF333412.

Enzyme and pathway databases

Reactomei REACT_18410. Fanconi Anemia pathway.

Miscellaneous databases

ChiTaRSi FANCA. human.
GeneWikii FANCA.
GenomeRNAii 2175.
NextBioi 35474400.
PROi O15360.
SOURCEi Search...

Gene expression databases

Bgeei O15360.
ExpressionAtlasi O15360. baseline and differential.
Genevestigatori O15360.

Family and domain databases

InterProi IPR003516. Fanconia.
[Graphical view ]
Pfami PF03511. Fanconi_A. 1 hit.
[Graphical view ]
PRINTSi PR00826. FANCONIAGENE.
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), VARIANTS SER-501 AND ILE-717.
    Tissue: Lymphoblast.
  2. 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. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
    Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
    , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
    Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 3), VARIANT ILE-717.
  6. "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].
  7. "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.
  8. "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.
  9. "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.
  10. "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.
  11. "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.
  12. "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.
  13. "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.
  14. Cited for: IDENTIFICATION IN A COMPLEX WITH FANCB; FANCC; FANCE; FANCF; FANCG AND FANCL.
  15. "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.
  16. Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-1449, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    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] [Europe PMC] [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] [Europe PMC] [Abstract]
    Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-1449, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    Tissue: Cervix carcinoma.
  19. "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.
  20. "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.
  21. "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.
  22. Cited for: VARIANT FA TYR-1359, VARIANTS ALA-266; SER-501 AND ASP-809.
  23. 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.
  24. "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.
  25. Cited for: VARIANTS FA ASN-598; ARG-858 AND PHE-1088.
  26. "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.
  27. "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.
  28. Cited for: VARIANT FA ARG-858.
  29. "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.
  30. 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.
  31. Cited for: VARIANTS [LARGE SCALE ANALYSIS] ALA-266; VAL-412; SER-501; ASP-809 AND PHE-1088.

Entry informationi

Entry nameiFANCA_HUMAN
AccessioniPrimary (citable) accession number: O15360
Secondary accession number(s): A5D923
, B4DRI7, H3BSR5, O75266, Q6PL10, Q92497, Q96H18, Q9UEA5, Q9UEL8, Q9UEL9, Q9UPK3, Q9Y6M2
Entry historyi
Integrated into UniProtKB/Swiss-Prot: December 1, 2000
Last sequence update: May 15, 2007
Last modified: October 29, 2014
This is version 141 of the entry and version 2 of the sequence. [Complete history]
Entry statusiReviewed (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.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 16
    Human chromosome 16: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

External Data

Dasty 3