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O15360

- FANCA_HUMAN

UniProt

O15360 - FANCA_HUMAN

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
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    • History
      Entry version 140 (01 Oct 2014)
      Sequence version 2 (15 May 2007)
      Previous versions | rss
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    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 - Molecular functioni

    1. protein binding Source: UniProtKB

    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

    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

    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 – 14491Phosphoserine3 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

    ArrayExpressiO15360.
    BgeeiO15360.
    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. 69 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.
    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

    MSDSWVPNSA SGQDPGGRRR AWAELLAGRV KREKYNPERA QKLKESAVRL     50
    LRSHQDLNAL LLEVEGPLCK KLSLSKVIDC DSSEAYANHS SSFIGSALQD 100
    QASRLGVPVG ILSAGMVASS VGQICTAPAE TSHPVLLTVE QRKKLSSLLE 150
    FAQYLLAHSM FSRLSFCQEL WKIQSSLLLE AVWHLHVQGI VSLQELLESH 200
    PDMHAVGSWL FRNLCCLCEQ MEASCQHADV ARAMLSDFVQ MFVLRGFQKN 250
    SDLRRTVEPE KMPQVTVDVL QRMLIFALDA LAAGVQEESS THKIVRCWFG 300
    VFSGHTLGSV ISTDPLKRFF SHTLTQILTH SPVLKASDAV QMQREWSFAR 350
    THPLLTSLYR RLFVMLSAEE LVGHLQEVLE TQEVHWQRVL SFVSALVVCF 400
    PEAQQLLEDW VARLMAQAFE SCQLDSMVTA FLVVRQAALE GPSAFLSYAD 450
    WFKASFGSTR GYHGCSKKAL VFLFTFLSEL VPFESPRYLQ VHILHPPLVP 500
    GKYRSLLTDY ISLAKTRLAD LKVSIENMGL YEDLSSAGDI TEPHSQALQD 550
    VEKAIMVFEH TGNIPVTVME ASIFRRPYYV SHFLPALLTP RVLPKVPDSR 600
    VAFIESLKRA DKIPPSLYST YCQACSAAEE KPEDAALGVR AEPNSAEEPL 650
    GQLTAALGEL RASMTDPSQR DVISAQVAVI SERLRAVLGH NEDDSSVEIS 700
    KIQLSINTPR LEPREHMAVD LLLTSFCQNL MAASSVAPPE RQGPWAALFV 750
    RTMCGRVLPA VLTRLCQLLR HQGPSLSAPH VLGLAALAVH LGESRSALPE 800
    VDVGPPAPGA GLPVPALFDS LLTCRTRDSL FFCLKFCTAA ISYSLCKFSS 850
    QSRDTLCSCL SPGLIKKFQF LMFRLFSEAR QPLSEEDVAS LSWRPLHLPS 900
    ADWQRAALSL WTHRTFREVL KEEDVHLTYQ DWLHLELEIQ PEADALSDTE 950
    RQDFHQWAIH EHFLPESSAS GGCDGDLQAA CTILVNALMD FHQSSRSYDH 1000
    SENSDLVFGG RTGNEDIISR LQEMVADLEL QQDLIVPLGH TPSQEHFLFE 1050
    IFRRRLQALT SGWSVAASLQ RQRELLMYKR ILLRLPSSVL CGSSFQAEQP 1100
    ITARCEQFFH LVNSEMRNFC SHGGALTQDI TAHFFRGLLN ACLRSRDPSL 1150
    MVDFILAKCQ TKCPLILTSA LVWWPSLEPV LLCRWRRHCQ SPLPRELQKL 1200
    QEGRQFASDF LSPEAASPAP NPDWLSAAAL HFAIQQVREE NIRKQLKKLD 1250
    CEREELLVFL FFFSLMGLLS SHLTSNSTTD LPKAFHVCAA ILECLEKRKI 1300
    SWLALFQLTE SDLRLGRLLL RVAPDQHTRL LPFAFYSLLS YFHEDAAIRE 1350
    EAFLHVAVDM YLKLVQLFVA GDTSTVSPPA GRSLELKGQG NPVELITKAR 1400
    LFLLQLIPRC PKKSFSHVAE LLADRGDCDP EVSAALQSRQ QAAPDADLSQ 1450
    EPHLF 1455
    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:
    EMBL
    GenBank
    DDBJ
    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:
    EMBL
    GenBank
    DDBJ
    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. 69 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.
    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

    ArrayExpressi O15360.
    Bgeei O15360.
    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

    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 1, 2014
    This is version 140 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