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FANCI Gene

protein-coding   GIFtS: 51

GC15P087588
Fanconi anemia, complementation group I
(Previous name: KIAA1794 )
Symbol approved by the HUGO Gene Nomenclature Committee (HGNC) database
(Previous symbol: KIAA1794)
Services    
(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc , and/or 7Ensembl, 8miRBase)
About This Section

Aliases
FLJ10719 1, 2
KIAA1794 1, 2, 3, 5
Descriptions
Fanconi anemia, complementation group I 2
Protein FANCI 3
External Ids
HGNC: 255681
Entrez Gene: 552152
UniProtKB: Q9NVI13
Ensembl: ENSG000001405257
Search outside databases for aliases for FANCI gene

Previous GC identifer: GC00U922091

(According to Entrez Gene, Wikipedia's Gene Wiki,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

EntrezGene summary for FANCI:
The Fanconi anemia complementation group (FANC) currently includes FANCA, FANCB, FANCC, FANCD1
(also called BRCA2), FANCD2, FANCE, FANCF, FANCG, FANCI, FANCJ (also called BRIP1), FANCL, FANCM
and FANCN (also called PALB2). The previously defined group FANCH is the same as FANCA. Fanconi
anemia is a genetically heterogeneous recessive disorder characterized by cytogenetic instability,
hypersensitivity to DNA crosslinking agents, increased chromosomal breakage, and defective DNA
repair. The members of the Fanconi anemia complementation group do not share sequence similarity;
they are related by their assembly into a common nuclear protein complex. This gene encodes the
protein for complementation group I. Alternative splicing results in two transcript variants
encoding different isoforms. [provided by RefSeq]

UniProtKB/Swiss-Prot: FANCI_HUMAN, Q9NVI1
Function: Required for maintenance of chromosomal stability. Involved in the repair of DNA
double-strand breaks by homologous recombination and in the repair of DNA cross-links.
Participates in S phase and G2 phase checkpoint activation upon DNA damage. Promotes FANCD2
ubiquitination and recruitment to DNA repair sites

Gene Wiki entry for FANCI

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 36),
and/or miRBase,
Genomic Views according to UCSC and Ensembl, Transcription factor binding sites according to SABiosciences)
About This Section

Genomic View:
UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 15q26.1   Ensembl cytogenetic band:  15q26.1   HGNC cytogenetic band: 15q26.1

FANCI Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)

GeneLoc gene densities for chromosome 15         GeneLoc Exon Structure

GeneLoc location for GC15P087588:     (about GC identifiers)

Start:
87,588,198 bp from pter
End:
87,661,366 bp from pter
Size:
73,169 bases
Orientation:
plus strand
RefSeq DNA sequence:
NC_000015.8  NT_010274.16  
(According to 1UniProtKB, and/or Ensembl, Phosphorylation sites according to 2Phosphosite, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Enzo Life Sciences, Abnova, OriGene and/or, Abcam,
Biochemical Assays by Invitrogen, Millipore, R&D Systems, Cell Signaling Technology, and/or Enzo Life Sciences, Ontologies according to Gene Ontology Consortium 01 Apr 2009 and Entrez Gene, Antibodies by Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Cell Signaling Technology, Abcam, Abnova, and/or Novus Biologicals)
About This Section

UniProtKB/Swiss-Prot: FANCI_HUMAN, Q9NVI1 (See protein sequence)
Recommended Name: Fanconi anemia group I protein  
Size: 1328 amino acids; 149324 Da
Subunit: Interacts directly with FANCD2
Subcellular location: Nucleus. Note=Concentrates in nuclear foci upon genotoxic stress
Secondary accessions: A4ZVE4 A5YMH4 A6NJZ0 Q96JN1 Q96ST0 Q9BT96
Alternative splicing: 4 isoforms:  Q9NVI1-3   Q9NVI1-2   Q9NVI1-1   Q9NVI1-4   

Post-translational modifications:

  • Monoubiquitinated on Lys-523 during S phase and upon genotoxic stress. Deubiquitinated by USP1 as
    cells enter G2/M, or once DNA repair is completed. Monoubiquitination requires the
    FANCA-FANCB-FANCC-FANCE-FANCF-FANCG-FANCM complex. Ubiquitination is required for binding to
    chromatin, DNA repair, and normal cell cycle progression1
  • Phosphorylated in response to DNA damage by ATM and/or ATR1
  • View phosphorylation sites using PhosphoSite2


  • REFSEQ proteins (2 alternative transcripts): 
    NP_001106849.1  NP_060663.2  


    ENSEMBL proteins: 
    ENSP00000300027 ENSP00000310842 


    Human Recombinant Proteins 
    Browse Drug Discovery Central at Invitrogen for human recombinant proteins
    Browse Purified and Recombinant Proteins at Millipore
    Browse Human Recombinant Proteins at Sigma-Aldrich  
    Browse R&D Systems for human recombinant proteins
    Browse recombinant and purified proteins available from Enzo Life Sciences
    Recombinant Proteins from Abcam (KIAA1794)
    Human Recombinant Proteins from Abnova (KIAA1794)
                    Browse Origene for full length recombinant human proteins expressed in human HEK293 cells 

    2 Gene Ontology (GO) cellular component terms (links to tree view):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634 nucleus IEA--
    GO:0005694 chromosome IEA--
    About this table

    Antibodies for FANCI: 
    Browse Antibodies Central at Invitrogen
    Browse Millipore's Extensive Line of Mono- and Polyclonal Antibodies
    Browse Antibodies at Sigma-Aldrich
    Browse R&D Systems for Antibodies
    Antibodies from Abcam (KIAA1794), each with their AbpromiseSM
    Monoclonal and Polyclonal Antibodies from Abnova (KIAA1794)
    Novus Biologicals Antibodies for FANCI

    Assays for FANCI: 
    Browse Invitrogen for biochemical assays
    Browse Kits and Assays available from Millipore
    Browse R&D Systems for biochemical assays
    Browse biochemical assays available from Enzo Life Sciences

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    ProtoNet protein and cluster: Q9NVI1

    UniProtKB/Swiss-Prot: FANCI_HUMAN, Q9NVI1
    Domain: The C-terminal 30 residues are probably required for function in DNA repair

    (According to MGI Jun 06 2009, UniProtKB, IUBMB,and/or Genatlas,
    shRNA from OriGene, Sigma-Aldrich, RNAi from Sigma-Aldrich,
    RNAi Products, Clones, and Q-PCR Products from Invitrogen, Millipore, OriGene, and/or Abnova, siRNAs from Applied Biosystems, SYBR primers from OriGene, Cell-based Assays from Millipore, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
    About This Section

    Inhib.
    RNA:
    Invitrogen RNAi Products for gene knock-down (FANCI)
    Browse for Gene Knock-down Tools from Millipore
    Abnova Chimera RNAi Products for Gene knock-down (KIAA1794)
                   OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 3): BC004277

                  Applied Biosystems Silencer® siRNAs for FANCI

                  Sigma-Aldrich siRNA for FANCI  
                         Sigma-Aldrich shRNA for FANCI  
                         Explore Sigma-Aldrich super-pooled esiRNAs  

    Clones:Invitrogen Clones for FANCI
    Browse Clones for the Expression of Recombinant Proteins Available from Millipore
                   OriGene GFP tagged cDNA clones in CMV expression vector (see all 2): NM_001113378
                                     Myc/DDK tagged cDNA clones in CMV expression vector (see all 2): NM_001113378
                                     untagged cDNA clones in CMV expression vector (see all 4): BC004277 

    Primers: Browse Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers
                  OriGene genome-wide validated SYBR primer pairs: NM_001113378

    UniProtKB/Swiss-Prot: FANCI_HUMAN, Q9NVI1
    Function: Required for maintenance of chromosomal stability. Involved in the repair of DNA
    double-strand breaks by homologous recombination and in the repair of DNA cross-links.
    Participates in S phase and G2 phase checkpoint activation upon DNA damage. Promotes FANCD2
    ubiquitination and recruitment to DNA repair sites

    1 Gene Ontology (GO) molecular function term (links to tree view):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515 protein binding IPI17353931 17460694
    About this table

    (Pathways according to Invitrogen (maps by GeneGo), Millipore, Cell Signaling Technology, Sigma-Aldrich, KEGG and/or UniProtKB,
    Sets of similar genes according to GeneDecks, Proteins Network according to SABiosciences, Interactions according to 1UniProtKB, 2MINT, and/or 3STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
    About This Section



    5/20 Interacting proteins for FANCI (Q9NVI11, 2 ENSP000003000273) via UniProtKB, MINT, and/or STRING (see all 20 )
    InteractantInteraction Details
    GeneCardExternal ID(s)
    FANCD2Q9BXW91, ENSP000002876473EBI-1013291, EBI-359343 STRING (score=.997)
    BRF2Q9HAW01EBI-1013291, EBI-1055224
    C20orf24Q9BUV81EBI-1013291, EBI-1050079
    GSTK1Q9Y2Q31EBI-1013291, EBI-1053767
    ILKQ134181EBI-1013291, EBI-747644
    About this table

    3 Gene Ontology (GO) biological process terms (links to tree view):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006281 DNA repair IEA--
    GO:0006974 response to DNA damage stimulus IEA--
    GO:0007049 cell cycle IEA--
    About this table
    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, Sigma-Aldrich, Tocris Bioscience, and/or Novoseek and Drugs according to Enzo Life Sciences and/or PharmGKB)
    About This Section

    Browse drugs & compounds from Enzo Life Sciences
    Browse Small Molecules at Sigma-Aldrich

    Browse Tocris compounds for FANCI

    (GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 219 Homo sapiens; Jun 2 2009) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView,
    non coding RNAs according to RNAdb,
    ESTs according to GeneTide,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from Invitrogen, Millipore, and/or Abnova,
    siRNAs from Applied Biosystems, Sigma-Aldrich,
    shRNA from Sigma-Aldrich, OriGene,
    Tagged/untagged cDNA clones from OriGene,
    Expression Assays from Applied Biosystems)
    About This Section

    Inhib.
    RNA:
    Invitrogen RNAi Products for gene knock-down (FANCI)
    Browse for Gene Knock-down Tools from Millipore
    Abnova Chimera RNAi Products for Gene knock-down (KIAA1794)
                   OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 3): BC004277

                  Sigma-Aldrich siRNA for FANCI  
                         Sigma-Aldrich shRNA for FANCI  
                         Explore Sigma-Aldrich super-pooled esiRNAs  

    Applied Biosystems Silencer® siRNAs: 

    NM_001113378  NM_018193  

    REFSEQ mRNAs for FANCI gene (2 alternative transcripts): 

    NM_001113378.1   NM_018193.2   

    Applied Biosystems TaqMan ® Gene Expression Assays: 

    NM_001113378  NM_018193  

                   OriGene GFP tagged cDNA clones in CMV expression vector (see all 2): NM_001113378
                                     Myc/DDK tagged cDNA clones in CMV expression vector (see all 2): NM_001113378
                                     untagged cDNA clones in CMV expression vector (see all 4): BC004277 

    Additional cDNA sequence: 

    AK001581.1 AK027564.1 BC004277.1 BC021859.1 BC140769.1 BC144483.1 BC146804.1 CR602910.1 
    EF469766.1 EF567077.1 

    20 DOTS entries:

    DT.40117040  DT.86850169  DT.97799629  DT.92430235  DT.100806670  DT.217587  DT.100806655  DT.95253571 
    DT.100658680  DT.100806663  DT.91923487  DT.100715141  DT.121036019  DT.40191266  DT.40213937  DT.95144659 
    DT.97846865  DT.121036084  DT.217586  DT.95253570 

    24/196 AceView cDNA sequences (see all 196 ):

    AW304283 BM015662 BQ050477 AA280016 BQ643065 CB140357 AA972625 BM717894 
    AA280087 CB145921 BU165314 AK001581 AU130593 BX282492 BM461935 CR602910 
    AI200839 BM789375 AI990088 AA746496 AI337050 AW351664 BM478761 AW178307 

    Unigene Cluster for FANCI:

    Fanconi anemia, complementation group I
    Hs.513126  [show with all ESTs]
    Unigene Representative Sequence: BC146804


    GeneLoc Exon Structure

    2 Ensembl transcripts including schematic representations:
    ENST00000300027  ENST00000310775  
    (Experimental results according to 1GeneNote and GNF BioGPS,
    probe sets-to-genes annotations according to 2GeneAnnot , 3GeneTide , Sets of similar genes according to GeneDecks, Electronic Northern calculations according to data from UniGene (Build 219 Homo sapiens), SAGE tags according to CGAP, plus additional links to SOURCE, and/or GNF BioGPS, and/or EXPOLDB, and/or UniProtKB,
    Expression Assays from Applied Biosystems )
    About This Section

    FANCI expression in normal and diseased human tissues

     Applied Biosystems TaqMan ® Gene Expression Assays for FANCI

    1 / 2

    8 probe-sets matching FANCI gene


    Affymetrix
    probe-set
    Array  GeneAnnot data GeneNote data GeneTide data
    # genes Sensitivity Specificity Correlation Length Gb_Accession Consensus Uniqueness Score Rank

    75018_at2 U95-E 1 0.88 1.00 0.91 1.04 -- -- -- -- --
    32617_at2 U95-A 1 0.81 1.00 0.98 0.97 -- -- -- -- --

    213007_at2 U133-A 1 1.00 1.00 -- -- -- -- -- -- --

    213008_at2 U133-A 1 1.00 1.00 -- -- -- -- -- -- --

    223785_at2 U133-B 1 1.00 1.00 -- -- -- -- -- -- --

    213007_at2 U133Plus2 1 1.00 1.00 -- -- -- -- -- -- --

    213008_at2 U133Plus2 1 1.00 1.00 -- -- -- -- -- -- --

    223785_at2 U133Plus2 1 1.00 1.00 -- -- -- -- -- -- --
    GeneDecks  FANCI for binary patterns associated with the probe-sets selected above  
    About GeneDecksing
    About this table    
    Data from (Publications) and GNF BioGPS
        About these images
    About these images

    CGAP SAGE TAG: TTAGGAGGGT

    SOURCE GeneReport for Unigene cluster: Hs.513126
    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD and/or 5MGI Jun 06 2009, with possible further links to Flybase and/or WormBase, Gene Trees according to Ensembl)
    About This Section


    Orthologs for FANCI gene from 5/8 species (see all 8 )
    Organism Gene Locus Description Human
    Similarity
    NCBI accessions
    dog
    (Canis familiaris)
    FANCI1   -- Fanconi anemia, complementation group I 89.89(n)
    89.11(a)
    488731  XM_545849.2  XP_545849.2 
    chimpanzee
    (Pan troglodytes)
    FANCI1   -- Fanconi anemia, complementation group I 98.79(n)
    98.58(a)
    453636  XM_510581.2  XP_510581.2 
    cow
    (Bos taurus)
    FANCI1   -- Fanconi anemia, complementation group I 87.75(n)
    85(a)
    522442  XM_600723.3  XP_600723.3 
    mouse
    (Mus musculus)
    Fanci1, 5 75
    Fanconi anemia, complementation group I1, 5 79.63(n)1
    75.73(a)1
    2088361  NM_145946.21  NP_666058.21 
     AK0855725  BC0254625  (see all 13)
    chicken
    (Gallus gallus)
    FANCI1   -- Fanconi anemia, complementation group I 69.02(n)
    67.14(a)
    415491  XM_413864.2  XP_413864.2 
    About this table        Species with no ortholog for FANCI

    ENSEMBL Gene Tree for FANCI
    (Paralogs according to 1HomoloGene
    and 2Ensembl, Pseudogenes according to 3Pseudogene.org)
    About This Section

      --
    (According to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, and UniProtKB, Linkage Disequilibrium by HapMap, Genotyping Reagents from Applied Biosystems)
    About This Section


    10/502 NCBI SNPs in FANCI are shown (see all 502 )
    (Click for Applied Biosystems TaqMan ® Genotyping Assay)  (see all 247)
    ABGenomic DataTranscription DataAllele Frequencies
    SNP IDValidChr 15 posSequenceRecsAA
    Chg
    TypeMoreRecsAllele
    freq
    PopTotal
    sample
    More
    ------------
    rs7184571,2
    C,F,H,O87586815(-) GGAATC/TCTTTA 1 -- ng5119Minor allele frequency- T:0.27NA NS EU EA WA 1312
    rs71781521,2
    A,C,F,H87588059(+) GTCCCG/TAGCGC 1 -- ng518Minor allele frequency- N:0.02EA NA EU WA 628
    rs71649521,2
    A,C,F,H87587033(+) GTCGAG/ATCAGG 1 -- ng514Minor allele frequency- A:0.05EU EA WA 416
    rs178036201,2
    C,F,H87605047(+) AATAGC/TGTCTG 2 A/V mis1 ese37Minor allele frequency- T:0.25NA EU EA WA 562
    rs22834321,2
    C,F,H87637232(-) AAGCAC/GAGATA 2 C/S mis112Minor allele frequency- G:0.29EA EU WA NA 2558
    rs169428931,2
    C,F,H87587425(+) CTTTTC/GAACAG 1 -- ng5111Minor allele frequency- G:0.46NA EU EA WA 976
    rs283783321,2
    C,F87636986(+) CCTTAC/AAGCAG 2 K/Q mis1 ese35Minor allele frequency- A:0.01NA EU EA WA 490
    rs129150331,2
    H87659545(+) GCTCAG/ACACCT 2 N/S mis1 ese34Minor allele frequency- A:0.00EU EA WA 420
    rs11384651,2
    A,C,F,H,O87659606(-) TCTTCA/GCCATC 2 G/G syn1 ese314Minor allele frequency- G:0.41MN NA EU EA WA 1354
    rs118579601,2
    A,C,F,H87638143(+) AAAGCG/TGGTAA 2 A/A syn19Minor allele frequency- T:0.11EU EA WA NA 908
    About this table

    HapMap Linkage Disequilibrium images for FANCI (up to first 250kb)

    (in which this Gene is Involved, According to OMIM, UniProtKB, PharmGKB, Genatlas, GeneTests, Blood group antigen gene mutations by BGMUT, HGMD, GAD, HuGE Navigator, BCGD, and/or TGDB.)
    About This Section

    OMIM: 611360   disorders: 608053  

    UniProtKB/Swiss-Prot: FANCI_HUMAN, Q9NVI1

  • Defects in FANCI are a cause of Fanconi anemia complementation group I (FANCI)
    [MIM:609053, 227650]. Fanconi anemia (FA) is a genetically heterogeneous, autosomal recessive
    disorder characterized by progressive pancytopenia, a diverse assortment of congenital
    malformations, and a predisposition to the development of malignancies. At the cellular level it
    is associated with hypersensitivity to DNA-damaging agents, chromosomal instability (increased
    chromosome breakage), and defective DNA repair
  • GeneTests: FANCI

    Fanconi Anemia

    Human Gene Mutation Database: FANCI

    (Possibly Related Articles in Doctor's Guide)
    About This Section

      --

    (in PubMed. Associations of this gene to articles via 1Novoseek, 2HGNC, 3Entrez Gene, 4UniProtKB/Swiss-Prot, 5UniProtKB/TrEMBL, 6GAD, and/or 7PharmGKB)
    About This Section

    10/19 PubMed articles for FANCI gene (see all 19 ):
    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section

     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)
    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, and/or H-InvDB)
    About This Section

    Entrez Gene: 55215 HGNC: 25568 AceView: FLJ10719 Ensembl:ENSG00000140525 euGenes: HUgn55215
    ECgene: FANCI H-InvDB: FANCI
    (According to HUGE)
    About This Section

    HUGE: KIAA1794
    (According to ATLAS, HORDE, IMGT, MTDB, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section

    NameDescription
    Fanconi Anemia Mutation Databasehttp://www.rockefeller.edu/fanconi/mutate/jumpi.html
    GeneReviewshttp://www.genetests.org/query?gene=FANCI
    (Available from WIS Yeda, Salk, Tufts)
    About This Section

      --
    (Reagents available from Applied Biosystems, Antibodies and assays by Cell Signaling Technology, Abcam, Novus Biologicals,
    Sigma-Aldrich, R&D Systems, Millipore, Abnova, and/or Invitrogen, Clones available from OriGene,and/or Invitrogen, Drugs and/or compounds by Sigma-Aldrich,
    Enzo Life Sciences, and/or Tocris Bioscience)
    About This Section



    Products for FANCI:
     TaqMan ® Gene Expression Assays
     TaqMan ® Genotyping Assays
      Free SNP selection tool



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     Predesigned and custom siRNAs for FANCI Browse antibodies at Sigma-Aldrich
     Explore super-pooled esiRNAs Browse proteins at Sigma-Aldrich
     Lentivirus-delivered shRNAs for FANCI Browse small molecules at Sigma-Aldrich
     "Your Favorite Gene" Pathwaysfeedback


      
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     Recombinant & Natural Proteins  

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     Custom Service for Rabbit Pab from Full-length Protein
      
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     Recombinant Proteins
    (KIAA1794)
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     Search OriGene for FANCI
     Search Tocris compounds for FANCI




     Search www.enzolifesicences.com for proteins, assays, substrates, inhibitors & antibodies
     Antibodies for FANCI

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