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    Fancc Fanconi anemia, complementation group C [ Mus musculus (house mouse) ]

    Gene ID: 14088, updated on 5-Jul-2021

    Summary

    Official Symbol
    Fanccprovided by MGI
    Official Full Name
    Fanconi anemia, complementation group Cprovided by MGI
    Primary source
    MGI:MGI:95480
    See related
    Ensembl:ENSMUSG00000021461
    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
    Fac; Facc
    Expression
    Ubiquitous expression in bladder adult (RPKM 3.8), CNS E11.5 (RPKM 3.0) and 28 other tissues See more
    Orthologs
    NEW
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    Genomic context

    See Fancc in Genome Data Viewer
    Location:
    13 B3; 13 32.8 cM
    Exon count:
    22
    Annotation release Status Assembly Chr Location
    109 current GRCm39 (GCF_000001635.27) 13 NC_000079.7 (63452519..63645126, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 13 NC_000079.6 (63301334..63497292, complement)
    Build 37.2 previous assembly MGSCv37 (GCF_000001635.18) 13 NC_000079.5 (63406017..63533053, complement)

    Chromosome 13 - NC_000079.7Genomic Context describing neighboring genes Neighboring gene aminopeptidase O Neighboring gene microRNA 3074-1 Neighboring gene microRNA 24-1 Neighboring gene microRNA 27b Neighboring gene Ptch1 Hedgehog-responsive enhancers Neighboring gene patched 1 Neighboring gene predicted gene, 30655

    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 Functions

    What's a GeneRIF?

    Variation

    Alleles

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

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Gene Ontology Provided by MGI

    Process Evidence Code Pubs
    acts_upstream_of_or_within DNA repair IEA
    Inferred from Electronic Annotation
    more info
     
    acts_upstream_of_or_within brain morphogenesis IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    acts_upstream_of_or_within cellular response to DNA damage stimulus IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cellular response to oxidative stress IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    acts_upstream_of_or_within cellular response to oxidative stress IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    acts_upstream_of_or_within gamete generation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within germ cell development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in interstrand cross-link repair IEA
    Inferred from Electronic Annotation
    more info
     
    acts_upstream_of_or_within myeloid cell homeostasis IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    acts_upstream_of_or_within myeloid cell homeostasis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within neuronal stem cell population maintenance IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    involved_in nucleotide-excision repair IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    acts_upstream_of_or_within nucleotide-excision repair IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within removal of superoxide radicals IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    Component Evidence Code Pubs
    part_of Fanconi anaemia nuclear complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    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 cytoplasm IEA
    Inferred from Electronic Annotation
    more info
     
    located_in cytosol ISO
    Inferred from Sequence Orthology
    more info
     
    located_in nucleus IEA
    Inferred from Electronic Annotation
    more info
     

    General protein information

    Preferred Names
    Fanconi anemia group C protein homolog

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_001042673.2NP_001036138.1  Fanconi anemia group C protein homolog isoform 1

      See identical proteins and their annotated locations for NP_001036138.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) lacks an alternate in-frame exon in the 3' coding region and differs in the 3' UTR, compared to variant 4, resulting in an isoform (1) that is shorter than isoform 3. Both variants 1 and 2 encode isoform 1.
      Source sequence(s)
      AK035488, AK163161, AV232342
      Consensus CDS
      CCDS36700.1
      UniProtKB/TrEMBL
      Q8CBR3
      Related
      ENSMUSP00000072788.6, ENSMUST00000073029.13
      Conserved Domains (1) summary
      pfam02106
      Location:10555
      Fanconi_C; Fanconi anaemia group C protein
    2. NM_001282942.1NP_001269871.1  Fanconi anemia group C protein homolog isoform 2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR, lacks a portion of the 5' coding region, initiates translation at a downstream in-frame start codon, and lacks an alternate in-frame exon in the 3' coding region, compared to variant 4. The encoded isoform (2) has a shorter N-terminus, compared to isoform 3.
      Source sequence(s)
      AK147025, AK163161, BY431920
      Consensus CDS
      CCDS70472.1
      UniProtKB/TrEMBL
      E9QAE8, Q3UI88
      Related
      ENSMUSP00000097043.4, ENSMUST00000099444.10
      Conserved Domains (1) summary
      pfam02106
      Location:1458
      Fanconi_C; Fanconi anaemia group C protein
    3. NM_001347514.1NP_001334443.1  Fanconi anemia group C protein homolog isoform 3

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4) encodes the longest isoform (3).
      Source sequence(s)
      AK147025, BY431920, CJ058789, CT009757, L08266
      Consensus CDS
      CCDS84029.1
      UniProtKB/Swiss-Prot
      P50652
      UniProtKB/TrEMBL
      Q3UI88
      Related
      ENSMUSP00000124406.2, ENSMUST00000163091.8
      Conserved Domains (1) summary
      pfam02106
      Location:10588
      Fanconi_C; Fanconi anaemia group C protein
    4. NM_001347515.1NP_001334444.1  Fanconi anemia group C protein homolog isoform 4 precursor

      Status: VALIDATED

      Description
      Transcript Variant: This variant (5) differs in the 5' UTR, initiates translation from an alternate start codon, and lacks an alternate in-frame exon in the 3' coding region, compared to variant 4. The encoded isoform (4) has a distinct N-terminus and is shorter than isoform 3.
      Source sequence(s)
      AC130827, AK147025, BY431920, CJ058789, CJ079722
      UniProtKB/TrEMBL
      Q3UI88
      Conserved Domains (1) summary
      pfam02106
      Location:32577
      Fanconi_C; Fanconi anaemia group C protein
    5. NM_007985.3NP_032011.2  Fanconi anemia group C protein homolog isoform 1

      See identical proteins and their annotated locations for NP_032011.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) lacks an alternate in-frame exon in the 3' coding region, compared to variant 4, resulting in an isoform (1) that is shorter than isoform 3. Both variants 1 and 2 encode isoform 1.
      Source sequence(s)
      AK147025, AK163161, BY431920
      Consensus CDS
      CCDS36700.1
      UniProtKB/TrEMBL
      Q3UI88, Q8CBR3
      Related
      ENSMUSP00000123817.2, ENSMUST00000161977.8
      Conserved Domains (1) summary
      pfam02106
      Location:10555
      Fanconi_C; Fanconi anaemia group C protein

    RefSeqs of Annotated Genomes: Mus musculus Annotation Release 109 details...Open this link in a new tab

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

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000079.7 Reference GRCm39 C57BL/6J

      Range
      63452519..63645126 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011244476.4XP_011242778.1  Fanconi anemia group C protein homolog isoform X4

      Conserved Domains (1) summary
      pfam02106
      Location:32553
      Fanconi_C; Fanconi anaemia group C protein
    2. XM_006517087.5XP_006517150.1  Fanconi anemia group C protein homolog isoform X3

      Conserved Domains (1) summary
      pfam02106
      Location:32610
      Fanconi_C; Fanconi anaemia group C protein
    3. XM_011244484.3XP_011242786.1  Fanconi anemia group C protein homolog isoform X12

      Conserved Domains (1) summary
      pfam02106
      Location:1491
      Fanconi_C; Fanconi anaemia group C protein
    4. XM_011244483.3XP_011242785.1  Fanconi anemia group C protein homolog isoform X11

      Conserved Domains (1) summary
      pfam02106
      Location:1504
      Fanconi_C; Fanconi anaemia group C protein
    5. XM_011244477.3XP_011242779.1  Fanconi anemia group C protein homolog isoform X5

      See identical proteins and their annotated locations for XP_011242779.1

      Conserved Domains (1) summary
      pfam02106
      Location:10601
      Fanconi_C; Fanconi anaemia group C protein
    6. XM_030247147.1XP_030103007.1  Fanconi anemia group C protein homolog isoform X14

      Conserved Domains (1) summary
      pfam02106
      Location:1413
      Fanconi_C; Fanconi anaemia group C protein
    7. XM_011244481.3XP_011242783.1  Fanconi anemia group C protein homolog isoform X8

      Conserved Domains (1) summary
      pfam02106
      Location:32577
      Fanconi_C; Fanconi anaemia group C protein
    8. XM_011244475.3XP_011242777.1  Fanconi anemia group C protein homolog isoform X2

      Conserved Domains (1) summary
      pfam02106
      Location:32610
      Fanconi_C; Fanconi anaemia group C protein
    9. XM_011244480.3XP_011242782.1  Fanconi anemia group C protein homolog isoform X6

      Conserved Domains (1) summary
      pfam02106
      Location:32590
      Fanconi_C; Fanconi anaemia group C protein
    10. XM_011244482.4XP_011242784.1  Fanconi anemia group C protein homolog isoform X9

      Conserved Domains (1) summary
      pfam02106
      Location:32548
      Fanconi_C; Fanconi anaemia group C protein
    11. XM_011244474.3XP_011242776.1  Fanconi anemia group C protein homolog isoform X1

      Conserved Domains (1) summary
      pfam02106
      Location:32623
      Fanconi_C; Fanconi anaemia group C protein
    12. XM_017315382.3XP_017170871.1  Fanconi anemia group C protein homolog isoform X7

      UniProtKB/Swiss-Prot
      P50652
      Conserved Domains (1) summary
      pfam02106
      Location:10588
      Fanconi_C; Fanconi anaemia group C protein
    13. XM_036157847.1XP_036013740.1  Fanconi anemia group C protein homolog isoform X10

      Conserved Domains (1) summary
      pfam02106
      Location:10555
      Fanconi_C; Fanconi anaemia group C protein
    14. XM_030247148.2XP_030103008.1  Fanconi anemia group C protein homolog isoform X14

      Conserved Domains (1) summary
      pfam02106
      Location:1413
      Fanconi_C; Fanconi anaemia group C protein
    15. XM_011244485.4XP_011242787.1  Fanconi anemia group C protein homolog isoform X13

      Conserved Domains (1) summary
      pfam02106
      Location:3460
      Fanconi_C; Fanconi anaemia group C protein
    16. XM_011244478.2XP_011242780.1  Fanconi anemia group C protein homolog isoform X5

      See identical proteins and their annotated locations for XP_011242780.1

      Conserved Domains (1) summary
      pfam02106
      Location:10601
      Fanconi_C; Fanconi anaemia group C protein
    17. XM_030247144.2XP_030103004.1  Fanconi anemia group C protein homolog isoform X5

      Conserved Domains (1) summary
      pfam02106
      Location:10601
      Fanconi_C; Fanconi anaemia group C protein
    18. XM_030247145.2XP_030103005.1  Fanconi anemia group C protein homolog isoform X5

      Conserved Domains (1) summary
      pfam02106
      Location:10601
      Fanconi_C; Fanconi anaemia group C protein
    19. XM_006517090.4XP_006517153.1  Fanconi anemia group C protein homolog isoform X7

      See identical proteins and their annotated locations for XP_006517153.1

      UniProtKB/Swiss-Prot
      P50652
      Conserved Domains (1) summary
      pfam02106
      Location:10588
      Fanconi_C; Fanconi anaemia group C protein
    20. XM_036157844.1XP_036013737.1  Fanconi anemia group C protein homolog isoform X5

      Conserved Domains (1) summary
      pfam02106
      Location:10601
      Fanconi_C; Fanconi anaemia group C protein
    21. XM_036157845.1XP_036013738.1  Fanconi anemia group C protein homolog isoform X7

      Conserved Domains (1) summary
      pfam02106
      Location:10588
      Fanconi_C; Fanconi anaemia group C protein
    22. XM_036157846.1XP_036013739.1  Fanconi anemia group C protein homolog isoform X10

      Conserved Domains (1) summary
      pfam02106
      Location:10555
      Fanconi_C; Fanconi anaemia group C protein
    23. XM_036157848.1XP_036013741.1  Fanconi anemia group C protein homolog isoform X15

      Conserved Domains (1) summary
      pfam02106
      Location:1380
      Fanconi_C; Fanconi anaemia group C protein

    RNA

    1. XR_003950426.1 RNA Sequence

    2. XR_004937940.1 RNA Sequence

    3. XR_001780750.3 RNA Sequence

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