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    FANCI Fanconi anemia, complementation group I [ Homo sapiens ]

    Gene ID: 55215, updated on 11-May-2012
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    Summary

    Official Symbol
    FANCIprovided by HGNC
    Official Full Name
    Fanconi anemia, complementation group Iprovided by HGNC
    Primary source
    HGNC:25568
    See related
    Ensembl:ENSG00000140525; HPRD:13339; MIM:611360; Vega:OTTHUMG00000132993
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    KIAA1794; FLJ10719
    Summary
    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, Jul 2008]
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    Genomic context

    Location :
    15q26.1
    Sequence :
    Chromosome: 15; NC_000015.9 (89787194..89860362)
    See FANCI in Epigenomics, MapViewer

    Chromosome 15 - NC_000015.9Genomic Context describing neighboring genes Neighboring gene abhydrolase domain containing 2 Neighboring gene high mobility group box 1 pseudogene 8 Neighboring gene retinaldehyde binding protein 1 Neighboring gene uncharacterized LOC100506983 Neighboring gene polymerase (DNA directed), gamma Neighboring gene uncharacterized LOC100288864

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    Genomic regions, transcripts, and products

    Go to nucleotideGraphics FASTA GenBank

    Go to reference sequence details
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    Bibliography

    Related articles in PubMed

    1. Ubiquitin ligase substrate identification through quantitative proteomics at both the protein and peptide levels. Lee KA, et al. J Biol Chem, 2011 Dec 2. PMID 21987572.
    2. Systematic and quantitative assessment of the ubiquitin-modified proteome. Kim W, et al. Mol Cell, 2011 Oct 21. PMID 21906983.
    3. Regulation of the Fanconi anemia pathway by a SUMO-like delivery network. Yang K, et al. Genes Dev, 2011 Sep 1. PMID 21896657.
    4. A proteome-wide, quantitative survey of in vivo ubiquitylation sites reveals widespread regulatory roles. Wagner SA, et al. Mol Cell Proteomics, 2011 Oct. PMID 21890473.
    5. Comparative proteomic analysis identifies a role for SUMO in protein quality control. Tatham MH, et al. Sci Signal, 2011 Jun 21. PMID 21693764.

    See all (38) citations in PubMed

    GeneRIFs: Gene References Into Functions What's a GeneRIF?

    1. These data suggest a key role for the E3 ligase activity of RAD18 in the recruitment of FANCD2 and FANCI to chromatin and the events leading to their ubiquitylation during S phase.
      Title: The E3 ubiquitin ligase RAD18 regulates ubiquitylation and chromatin loading of FANCD2 and FANCI.
    2. although proper nuclear localization of FANCI is crucial for robust FANCD2 monoubiquitination, the putative FANCI EDGE motif is important for DNA crosslink repair
      Title: Patient-derived C-terminal mutation of FANCI causes protein mislocalization and reveals putative EDGE motif function in DNA repair.
    3. study characterizes FANI which promotes DNA interstrand cross-linking repair in a manner strictly dependent on its ability to accumulate at or near sites of DNA damage and that relies on mono-ubiquitylation of the FANCI-FANCD2 complex
      Title: FAN1 acts with FANCI-FANCD2 to promote DNA interstrand cross-link repair.
    4. results rule out a major role of FANCI in familial breast cancer susceptibility
      Title: Mutational analysis of FANCL, FANCM and the recently identified FANCI suggests that among the 13 known Fanconi Anemia genes, only FANCD1/BRCA2 plays a major role in high-risk breast cancer predisposition.
    5. Upon the occurrence of DNA damage, FANCI becomes monoubiquitinated on Lys-523 by the UBE2T-FANCL pair.
      Title: FANCI binds branched DNA and is monoubiquitinated by UBE2T-FANCL.
    6. the FANCI-FANCD2 complex may participate in repair of damaged replication forks through its preferential recognition of branched structures.
      Title: FANCI protein binds to DNA and interacts with FANCD2 to recognize branched structures.
    7. Observational study of gene-disease association. (HuGE Navigator)
      Title: Mutational analysis of FANCL, FANCM and the recently identified FANCI suggests that among the 13 known Fanconi Anemia genes, only FANCD1/BRCA2 plays a major role in high-risk breast cancer predisposition.
    8. Data show that FANCD2 and FANCI specifically associate with common fragile site loci irrespective of whether the chromosome is broken, and that these loci are frequently interlinked through BLM-associated ultra-fine DNA bridges through mitosis.
      Title: Replication stress induces sister-chromatid bridging at fragile site loci in mitosis.
    9. This work therefore establishes a system that provides mechanistic insight into the functions of FANCL and FANCI in the catalysis of FANCD2 monoubiquitination.
      Title: Mechanistic insight into site-restricted monoubiquitination of FANCD2 by Ube2t, FANCL, and FANCI.
    10. Results suggest that the multiple phosphorylation of FANCI serves as a molecular switch in activation of the Fanconi anemia pathway.
      Title: FANCI phosphorylation functions as a molecular switch to turn on the Fanconi anemia pathway.
    Submit: New GeneRIF Correction See all (13)
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    Phenotypes

    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Fanconi anemia, complementation group I

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    Interactions

    Products Interactant Other Gene Complex Source Pubs Description
    Q9NVI1 Q9BXW9 FANCD2    HPRD  PubMed  
    BioGRID:120511 BioGRID:106962 ATM    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:120511 BioGRID:120578 BRF2    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:120511 BioGRID:121015 C20orf24    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:120511 BioGRID:115889 CAMKK2    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:120511 BioGRID:107612 CLN3    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:120511 BioGRID:116573 FAN1    BioGRID  PubMed Affinity Capture-MS; Affinity Capture-Western; Co-fractionation 
    BioGRID:120511 BioGRID:108474 FANCD2    BioGRID  PubMed Affinity Capture-Western; Reconstituted Complex 
    BioGRID:120511 BioGRID:131875 GSTK1    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:120511 BioGRID:109824 ILK    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:120511 BioGRID:114879 MAGED1    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:120511 BioGRID:110694 MYC    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:120511 BioGRID:116000 NEK6    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:120511 BioGRID:119818 PELO    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:120511 BioGRID:120645 PIDD    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:120511 BioGRID:131695 POLN    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:120511 BioGRID:111552 PRKAB2    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:120511 BioGRID:116327 PTP4A3    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:120511 BioGRID:121212 RAD18    BioGRID  PubMed Co-localization 
    BioGRID:120511 BioGRID:112497 SUMO2    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:120511 BioGRID:113164 UBC    BioGRID  PubMed Affinity Capture-MS; Affinity Capture-Western 
    BioGRID:120511 BioGRID:121651 USP36    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:120511 BioGRID:121649 WDR48    BioGRID  PubMed Affinity Capture-Western; Reconstituted Complex 
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    General gene information

    Markers

    Genotypes

    Homology

    Pathways from BioSystems

    • DNA Repair, organism-specific biosystem (from REACTOME)
      DNA Repair, organism-specific biosystemDNA repair is a phenomenal multi-enzyme, multi-pathway system required to ensure the integrity of the cellular genome. These cellular mechanisms that must cope with the plethora of DNA base pair ad...
    • Fanconi Anemia pathway, organism-specific biosystem (from REACTOME)
      Fanconi Anemia pathway, organism-specific biosystemFanconi anemia (FA) is a genetic disease of genome instability characterized by congenital skeletal defects, aplastic anemia, susceptibility to leukemias, and cellular sensitivity to DNA damaging age...
    • Fanconi anemia pathway, organism-specific biosystem (from KEGG)
      Fanconi anemia pathway, organism-specific biosystemThe Fanconi anemia pathway is required for the efficient repair of damaged DNA, especially interstrand cross-links (ICLs). DNA ICL is directly recognized by FANCM and associated proteins, that recrui...
    • Fanconi anemia pathway, conserved biosystem (from KEGG)
      Fanconi anemia pathway, conserved biosystemThe Fanconi anemia pathway is required for the efficient repair of damaged DNA, especially interstrand cross-links (ICLs). DNA ICL is directly recognized by FANCM and associated proteins, that recrui...
    • Regulation of the Fanconi anemia pathway, organism-specific biosystem (from REACTOME)
      Regulation of the Fanconi anemia pathway, organism-specific biosystemThe Fanconi anemia DNA repair pathway is negatively regulated by the deubiquitination of FANCD2 an postively regulated by phosphorylation of the FANCD2 and FANCI. The USP1 deubiquitinating enzyme is...

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    DNA repair TAS
    Traceable Author Statement
    more info
    		  
    cell cycle IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    nucleoplasm TAS
    Traceable Author Statement
    more info
    		  
    nucleus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    plasma membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
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    General protein information

    Preferred Names
    Fanconi anemia group I protein
    Names
    Fanconi anemia group I protein
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    NCBI Reference Sequences (RefSeq)

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_011736.1 RefSeqGene

      Range
      5001..78169
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001113378.1 → NP_001106849.1  Fanconi anemia group I protein isoform 1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      AC124068, BU187299, EF567077
      Consensus CDS
      CCDS45346.1
      UniProtKB/Swiss-Prot
      Q9NVI1
      Related
      ENSP00000310842, OTTHUMP00000249624, ENST00000310775, OTTHUMT00000421140

    2. NM_018193.2 → NP_060663.2  Fanconi anemia group I protein isoform 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks an alternate exon in the coding region compared to variant 1. The encoded isoform (2) is shorter but has the same N- and C-termini compared to isoform 1.
      Source sequence(s)
      AC124068, AK027564, AK055176, BM461935, BQ050477, BU187299, CN365698
      Consensus CDS
      CCDS10349.2
      UniProtKB/TrEMBL
      B3KNW8
      UniProtKB/Swiss-Prot
      Q9NVI1
      Related
      ENSP00000300027, OTTHUMP00000163943, ENST00000300027, OTTHUMT00000256568

    RefSeqs of Annotated Genomes: Build 37.3

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh37.p5 Primary Assembly

    Genomic

    1. NC_000015.9 Reference GRCh37.p5 Primary Assembly

      Range
      89787194..89860362
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate HuRef

    Genomic

    1. AC_000147.1 Alternate HuRef

      Range
      65899078..65972245
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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    Related Sequences

    Nucleotide Protein
    Heading Accession and Version
    genomic AC124068.6 (107793..150709) None
    genomic CH471101.1 EAX02039.1
      EAX02040.1
      EAX02041.1
      EAX02042.1
      EAX02043.1
      EAX02044.1
    mRNA AB058697.1 BAB47423.1
    mRNA AK001581.1 BAA91770.1
    mRNA AK027564.1 BAB55200.1
    mRNA AK055176.1 BAG51480.1
    mRNA BC004277.1 AAH04277.1
    mRNA BC021859.1 None
    mRNA BC140769.1 AAI40770.1
    mRNA BC144483.1 AAI44484.1
    mRNA BC146804.1 None
    mRNA BM461935.1 None
    mRNA BQ050477.1 None
    mRNA BU187299.1 None
    mRNA CN365698.1 None
    mRNA EF469766.1 ABP88002.1
    mRNA EF567077.1 ABQ63084.1
    other-genetic BC166621.1 AAI66621.1
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9NVI1.4 GenPept UniProtKB/Swiss-Prot:Q9NVI1
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    Additional Links

    Additional Links

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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