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    Fanca FA complementation group A [ Rattus norvegicus (Norway rat) ]

    Gene ID: 361435, updated on 9-Dec-2024

    Summary

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    Symbol
    Fancaprovided by RGD
    Full Name
    FA complementation group Aprovided by RGD
    Primary source
    RGD:1311380
    See related
    EnsemblRapid:ENSRNOG00000016706 AllianceGenome:RGD:1311380
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Rattus norvegicus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Rattus
    Summary
    Predicted to be involved in regulation of regulatory T cell differentiation. Predicted to act upstream of or within several processes, including gonad development; regulation of CD40 signaling pathway; and regulation of germ cell proliferation. Predicted to be located in chromatin and nucleoplasm. Predicted to be part of Fanconi anaemia nuclear complex. Human ortholog(s) of this gene implicated in several diseases, including Fanconi anemia (multiple); acute myeloid leukemia; esophagus squamous cell carcinoma; ovarian disease (multiple); and skin melanoma. Orthologous to human FANCA (FA complementation group A). [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Biased expression in Thymus (RPKM 37.1), Spleen (RPKM 27.8) and 9 other tissues See more
    Orthologs
    human mouse all
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    Genomic context

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    See Fanca in Genome Data Viewer
    Location:
    19q12
    Exon count:
    46
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCr8 (GCF_036323735.1) 19 NC_086037.1 (68210562..68271080, complement)
    RS_2023_06 previous assembly mRatBN7.2 (GCF_015227675.2) 19 NC_051354.1 (51304126..51362586, complement)
    106 previous assembly Rnor_6.0 (GCF_000001895.5) 19 NC_005118.4 (56067548..56126075, complement)

    Chromosome 19 - NC_086037.1Genomic Context describing neighboring genes 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 small nucleolar RNA SNORD43 Neighboring gene spire-type actin nucleation factor 2 Neighboring gene transcription factor 25

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: A rat RNA-Seq transcriptomic BodyMap across 11 organs and 4 developmental stages
    • Description: 320 RNA samples isolated from 11 organs (adrenal gland, brain, heart, kidney, liver, lung, muscle, spleen, thymus, and testes or uterus) from both sexes of Fischer 344 rats across four developmental stages (2-, 6-, 21-, and 104-weeks-old)
    • BioProject: PRJNA238328
    • Publication: PMID 24510058
    • Analysis date: Mon Jun 6 17:44:12 2016

    Bibliography

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    Related articles in PubMed

    1. Fanconi anemia in Tunisia: high prevalence of group A and identification of new FANCA mutations. Bouchlaka C, et al. J Hum Genet, 2003. PMID 12827451
    2. Identification and characterization of novel mutations of the major Fanconi anemia gene FANCA in the Japanese population. Yagasaki H, et al. Hum Mutat, 2004 Dec. PMID 15523645
    3. Polymorphisms within the FANCA gene associate with premature ovarian failure in Korean women. Pyun JA, et al. Menopause, 2014 May. PMID 24045675
    4. Polymorphic variations in the FANCA gene in high-risk non-BRCA1/2 breast cancer individuals from the French Canadian population. Litim N, et al. Mol Oncol, 2013 Feb. PMID 23021409, Free PMC Article
    5. Mice with a targeted disruption of the Fanconi anemia homolog Fanca. Cheng NC, et al. Hum Mol Genet, 2000 Jul 22. PMID 10915769

    See all (23) citations in PubMed

    GeneRIFs: Gene References Into Functions

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by RGD

    Process Evidence Code Pubs
    involved_in biological_process ND
    No biological Data available
    more info
    		  
    acts_upstream_of_or_within female gonad development ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in interstrand cross-link repair IEA
    Inferred from Electronic Annotation
    more info
    		  
    acts_upstream_of_or_within male gonad development ISO
    Inferred from Sequence Orthology
    more info
    		  
    acts_upstream_of_or_within male meiotic nuclear division ISO
    Inferred from Sequence Orthology
    more info
    		  
    acts_upstream_of_or_within regulation of CD40 signaling pathway ISO
    Inferred from Sequence Orthology
    more info
    		  
    acts_upstream_of_or_within regulation of DNA-binding transcription factor activity ISO
    Inferred from Sequence Orthology
    more info
    		  
    acts_upstream_of_or_within regulation of germ cell proliferation ISO
    Inferred from Sequence Orthology
    more info
    		  
    acts_upstream_of_or_within regulation of inflammatory response ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in regulation of regulatory T cell differentiation IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    acts_upstream_of_or_within regulation of regulatory T cell differentiation ISO
    Inferred from Sequence Orthology
    more info
    		  
    Component Evidence Code Pubs
    part_of Fanconi anaemia nuclear complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    part_of Fanconi anaemia nuclear complex ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in chromatin ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in nucleoplasm IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in nucleoplasm ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in nucleus ISO
    Inferred from Sequence Orthology
    more info
    		  

    General protein information

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    Preferred Names
    Fanconi anemia group A protein
    Names
    Fanconi anemia group A protein homolog
    Fanconi anemia, complementation group A

    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_001401252.1 → NP_001388181.1  Fanconi anemia group A protein

      Status: VALIDATED

      Source sequence(s)
      JAXUCZ010000019
      UniProtKB/TrEMBL
      A0A8I6AGX8
      Related
      ENSRNOP00000092075.2, ENSRNOT00000107501.2

    RefSeqs of Annotated Genomes: GCF_036323735.1-RS_2024_02

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

    Reference GRCr8

    Genomic

    1. NC_086037.1 Reference GRCr8

      Range
      68210562..68271080 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_039097889.2 → XP_038953817.1  Fanconi anemia group A protein isoform X2

      UniProtKB/TrEMBL
      A0A8I6AGX8
      Conserved Domains (2) summary
      pfam03511
      Location:1096 → 1158
      Fanconi_A; Fanconi anaemia group A protein
      pfam15865
      Location:17 → 365
      Fanconi_A_N; Fanconi anaemia group A protein N-terminus

    2. XM_063278163.1 → XP_063134233.1  Fanconi anemia group A protein isoform X4

    3. XM_039097888.2 → XP_038953816.1  Fanconi anemia group A protein isoform X1

      UniProtKB/TrEMBL
      A0A8I6AGX8
      Related
      ENSRNOP00000105081.1, ENSRNOT00000134755.1
      Conserved Domains (2) summary
      pfam03511
      Location:1252 → 1314
      Fanconi_A; Fanconi anaemia group A protein
      pfam15865
      Location:173 → 521
      Fanconi_A_N; Fanconi anaemia group A protein N-terminus

    4. XM_039097892.2 → XP_038953820.1  Fanconi anemia group A protein isoform X3

      UniProtKB/TrEMBL
      A0A8I6AGX8
      Conserved Domains (1) summary
      pfam15865
      Location:173 → 521
      Fanconi_A_N; Fanconi anaemia group A protein N-terminus

    RNA

    1. XR_005496676.2 RNA Sequence

    2. XR_010060017.1 RNA Sequence

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_001108455.1: Suppressed sequence

      Description
      NM_001108455.1: This RefSeq was removed because currently there is insufficient support for the transcript and the protein.
    Nucleotide Protein Strain
    Heading Accession and Version

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