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    Fanci Fanconi anemia, complementation group I [ Mus musculus (house mouse) ]

    Gene ID: 208836, updated on 5-Mar-2024

    Summary

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    Official Symbol
    Fanciprovided by MGI
    Official Full Name
    Fanconi anemia, complementation group Iprovided by MGI
    Primary source
    MGI:MGI:2384790
    See related
    Ensembl:ENSMUSG00000039187 AllianceGenome:MGI:2384790
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Summary
    Predicted to enable DNA polymerase binding activity. Predicted to be involved in DNA repair. Predicted to act upstream of or within positive regulation of protein ubiquitination. Predicted to be located in cytosol and nucleoplasm. Predicted to be part of Fanconi anaemia nuclear complex. Human ortholog(s) of this gene implicated in Fanconi anemia and Fanconi anemia complementation group I. Orthologous to human FANCI (FA complementation group I). [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Ubiquitous expression in liver E14 (RPKM 4.7), CNS E11.5 (RPKM 4.6) and 26 other tissues See more
    Orthologs
    human all
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    Genomic context

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    Location:
    7 D2; 7 45.01 cM
    Exon count:
    39
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 7 NC_000073.7 (79042056..79100013)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 7 NC_000073.6 (79392312..79450266)

    Chromosome 7 - NC_000073.7Genomic Context describing neighboring genes Neighboring gene abhydrolase domain containing 2 Neighboring gene predicted gene, 24224 Neighboring gene CapStarr-seq enhancer MGSCv37_chr7:86508405-86508675 Neighboring gene STARR-positive B cell enhancer ABC_E9694 Neighboring gene STARR-seq mESC enhancer starr_19276 Neighboring gene retinaldehyde binding protein 1 Neighboring gene predicted gene, 31653 Neighboring gene protein transport protein Sec61 subunit gamma pseudogene Neighboring gene STARR-positive B cell enhancer ABC_E2240 Neighboring gene polymerase (DNA directed), gamma Neighboring gene nuclear encoded tRNA arginine 5 (anticodon TCG) Neighboring gene STARR-seq mESC enhancer starr_19283 Neighboring gene Mir9-3 host gene Neighboring gene microRNA 9b-3 Neighboring gene microRNA 9-3

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Mouse ENCODE transcriptome data
    • Description: RNA profiling data sets generated by the Mouse ENCODE project.
    • BioProject: PRJNA66167
    • Publication: PMID 25409824
    • Analysis date: n/a

    Bibliography

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    Related articles in PubMed

    1. FANCI plays an essential role in spermatogenesis and regulates meiotic histone methylation. Xu L, et al. Cell Death Dis, 2021 Aug 9. PMID 34373449, Free PMC Article
    2. Structure of the FANCI-FANCD2 complex: insights into the Fanconi anemia DNA repair pathway. Joo W, et al. Science, 2011 Jul 15. PMID 21764741, Free PMC Article
    3. A Fanci knockout mouse model reveals common and distinct functions for FANCI and FANCD2. Dubois EL, et al. Nucleic Acids Res, 2019 Aug 22. PMID 31219578, Free PMC Article
    4. Fancd2-deficient hematopoietic stem and progenitor cells depend on augmented mitochondrial translation for survival and proliferation. Chatla S, et al. Stem Cell Res, 2019 Oct. PMID 31472450, Free PMC Article
    5. FANCI phosphorylation functions as a molecular switch to turn on the Fanconi anemia pathway. Ishiai M, et al. Nat Struct Mol Biol, 2008 Nov. PMID 18931676, Free PMC Article

    See all (28) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. FANCI plays an essential role in spermatogenesis and regulates meiotic histone methylation.
      Title: FANCI plays an essential role in spermatogenesis and regulates meiotic histone methylation.
    2. Studies indicate common and distinct functions of Fanconi anemia complementation group I (FANCI) and Fanconi Anemia Group D2 Protein (FANCD2) during mouse development, meiotic recombination and hematopoiesis.
      Title: A Fanci knockout mouse model reveals common and distinct functions for FANCI and FANCD2.
    3. crystal structure of FANCI-FANCD2(ID) complex; crystallographic electron-density map of FANCI protein bound to splayed Y DNA; data suggest ID complex recognizes DNA structures resulting from encounter of replication forks with an interstrand cross-link
      Title: Structure of the FANCI-FANCD2 complex: insights into the Fanconi anemia DNA repair pathway.
    Submit: New GeneRIF Correction

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC38195, MGC38407

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables DNA polymerase binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables DNA polymerase binding ISO
    Inferred from Sequence Orthology
    more info
    		  
    Process Evidence Code Pubs
    acts_upstream_of_or_within DNA damage response IEA
    Inferred from Electronic Annotation
    more info
    		  
    acts_upstream_of_or_within DNA repair IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in DNA repair IEA
    Inferred from Electronic Annotation
    more info
    		  
    acts_upstream_of_or_within cell cycle IEA
    Inferred from Electronic Annotation
    more info
    		  
    acts_upstream_of_or_within positive regulation of protein ubiquitination ISO
    Inferred from Sequence Orthology
    more info
    		  
    Component Evidence Code Pubs
    part_of DNA repair complex ISO
    Inferred from Sequence Orthology
    more info
    		  
    part_of Fanconi anaemia nuclear complex ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in cytoplasm ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in cytosol ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in nucleoplasm ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in nucleus IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    Fanconi anemia group I protein homolog

    NCBI Reference Sequences (RefSeq)

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    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.

    mRNA and Protein(s)

    1. NM_145946.2 → NP_666058.2  Fanconi anemia group I protein homolog

      See identical proteins and their annotated locations for NP_666058.2

      Status: VALIDATED

      Source sequence(s)
      AK085572, BF021012, BX519311, BY754860, CN458387, CN702700, CO426844, DV655910
      Consensus CDS
      CCDS39991.1
      UniProtKB/Swiss-Prot
      Q8BUE9, Q8K368, Q8R3G8
      Related
      ENSMUSP00000044931.7, ENSMUST00000036865.13
      Conserved Domains (2) summary
      cd11720
      Location:43 → 1291
      FANCI; Fanconi anemia I protein
      pfam14674
      Location:1 → 53
      FANCI_S1-cap; FANCI solenoid 1 cap

    RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000073.7 Reference GRCm39 C57BL/6J

      Range
      79042056..79100013
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006540738.4 → XP_006540801.1  Fanconi anemia group I protein homolog isoform X1

      Conserved Domains (2) summary
      cd11720
      Location:43 → 1290
      FANCI; Fanconi anemia I protein
      pfam14674
      Location:1 → 53
      FANCI_S1-cap; FANCI solenoid 1 cap

    2. XM_011250833.4 → XP_011249135.1  Fanconi anemia group I protein homolog isoform X3

      UniProtKB/TrEMBL
      F7ALG5
      Related
      ENSMUSP00000117992.2, ENSMUST00000137667.3
      Conserved Domains (2) summary
      pfam14674
      Location:1 → 53
      FANCI_S1-cap; FANCI solenoid 1 cap
      cl17018
      Location:43 → 942
      FANC; Fanconi anemia ID complex proteins FANCI and FANCD2

    3. XM_036152857.1 → XP_036008750.1  Fanconi anemia group I protein homolog isoform X2

      Conserved Domains (1) summary
      cd11720
      Location:1 → 1198
      FANCI; Fanconi anemia I protein

    4. XM_017322082.3 → XP_017177571.1  Fanconi anemia group I protein homolog isoform X2

      Conserved Domains (1) summary
      cd11720
      Location:1 → 1198
      FANCI; Fanconi anemia I protein
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8K368.2 GenPept UniProtKB/Swiss-Prot:Q8K368

    Gene LinkOut

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

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