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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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See Fanci in Genome Data Viewer
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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