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    Fanca Fanconi anemia, complementation group A [ Mus musculus (house mouse) ]

    Gene ID: 14087, updated on 2-Oct-2018

    Summary

    Official Symbol
    Fancaprovided by MGI
    Official Full Name
    Fanconi anemia, complementation group Aprovided by MGI
    Primary source
    MGI:MGI:1341823
    See related
    Ensembl:ENSMUSG00000032815 Vega:OTTMUSG00000030114
    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
    Also known as
    FACA; AW208693
    Expression
    Ubiquitous expression in genital fat pad adult (RPKM 12.2), CNS E11.5 (RPKM 9.2) and 27 other tissues See more
    Orthologs

    Genomic context

    See Fanca in Genome Data Viewer
    Location:
    8 E1; 8 72.1 cM
    Exon count:
    46
    Annotation release Status Assembly Chr Location
    106 current GRCm38.p4 (GCF_000001635.24) 8 NC_000074.6 (123268244..123318651, complement)
    Build 37.2 previous assembly MGSCv37 (GCF_000001635.18) 8 NC_000074.5 (125792144..125842476, complement)

    Chromosome 8 - NC_000074.6Genomic Context describing neighboring genes Neighboring gene RIKEN cDNA 4933417D19 gene Neighboring gene cyclin-dependent kinase 10 Neighboring gene spermatogenesis associated 2-like Neighboring gene VPS9 domain containing 1 Neighboring gene zinc finger protein (C2H2 type) 276 Neighboring gene spire type actin nucleation factor 2 Neighboring gene transcription factor 25 (basic helix-loop-helix)

    Genomic regions, transcripts, and products

    Expression

    • 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

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Variation

    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Targeted (5)  1 citation
    • Endonuclease-mediated (1) 

    Pathways from BioSystems

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Gene Ontology Provided by MGI

    Process Evidence Code Pubs
    DNA repair IEA
    Inferred from Electronic Annotation
    more info
     
    cellular response to DNA damage stimulus IEA
    Inferred from Electronic Annotation
    more info
     
    female gonad development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    interstrand cross-link repair IEA
    Inferred from Electronic Annotation
    more info
     
    male gonad development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    male meiotic nuclear division IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    regulation of CD40 signaling pathway IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    regulation of DNA-binding transcription factor activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    regulation of cell proliferation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    regulation of inflammatory response IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    regulation of regulatory T cell differentiation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Component Evidence Code Pubs
    Fanconi anaemia nuclear complex ISO
    Inferred from Sequence Orthology
    more info
     
    cytoplasm IEA
    Inferred from Electronic Annotation
    more info
     
    nucleus ISO
    Inferred from Sequence Orthology
    more info
     

    General protein information

    Preferred Names
    Fanconi anemia group A protein homolog

    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.

    mRNA and Protein(s)

    1. NM_016925.3NP_058621.2  Fanconi anemia group A protein homolog

      See identical proteins and their annotated locations for NP_058621.2

      Status: VALIDATED

      Source sequence(s)
      AC155810, AF178934, AK084990, BY468613, CF537383
      Consensus CDS
      CCDS22753.1
      UniProtKB/Swiss-Prot
      Q9JL70
      Related
      ENSMUSP00000045217.8, OTTMUSP00000038918, ENSMUST00000035495.14, OTTMUST00000074594
      Conserved Domains (2) summary
      pfam03511
      Location:12461308
      Fanconi_A; Fanconi anaemia group A protein
      pfam15865
      Location:169518
      Fanconi_A_N; Fanconi anaemia group A protein N terminus

    RefSeqs of Annotated Genomes: Mus musculus Annotation Release 106

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

    Reference GRCm38.p4 C57BL/6J

    Genomic

    1. NC_000074.6 Reference GRCm38.p4 C57BL/6J

      Range
      123268244..123318651 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006530661.3XP_006530724.1  Fanconi anemia group A protein homolog isoform X1

      Conserved Domains (2) summary
      pfam03511
      Location:12371299
      Fanconi_A; Fanconi anaemia group A protein
      pfam15865
      Location:160509
      Fanconi_A_N; Fanconi anaemia group A protein N terminus
    2. XM_006530662.3XP_006530725.1  Fanconi anemia group A protein homolog isoform X2

      Conserved Domains (2) summary
      pfam03511
      Location:12141276
      Fanconi_A; Fanconi anaemia group A protein
      pfam15865
      Location:140486
      Fanconi_A_N; Fanconi anaemia group A protein N terminus
    3. XM_006530663.2XP_006530726.1  Fanconi anemia group A protein homolog isoform X3

      Conserved Domains (1) summary
      pfam15865
      Location:169518
      Fanconi_A_N; Fanconi anaemia group A protein N terminus
    4. XM_006530664.3XP_006530727.1  Fanconi anemia group A protein homolog isoform X4

      Conserved Domains (1) summary
      pfam15865
      Location:169518
      Fanconi_A_N; Fanconi anaemia group A protein N terminus
    5. XM_006530665.2XP_006530728.1  Fanconi anemia group A protein homolog isoform X5

      Related
      ENSMUSP00000116614.1, OTTMUSP00000038919, ENSMUST00000127904.7, OTTMUST00000074596
      Conserved Domains (1) summary
      pfam15865
      Location:169518
      Fanconi_A_N; Fanconi anaemia group A protein N terminus
    6. XM_006530666.1XP_006530729.1  Fanconi anemia group A protein homolog isoform X6

      Conserved Domains (1) summary
      pfam15865
      Location:169518
      Fanconi_A_N; Fanconi anaemia group A protein N terminus

    RNA

    1. XR_387732.3 RNA Sequence

    2. XR_001778402.1 RNA Sequence

    3. XR_001778404.1 RNA Sequence

    4. XR_001778403.1 RNA Sequence

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