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    Faap20 Fanconi anemia core complex associated protein 20 [ Mus musculus (house mouse) ]

    Gene ID: 67513, updated on 4-May-2024

    Summary

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    Official Symbol
    Faap20provided by MGI
    Official Full Name
    Fanconi anemia core complex associated protein 20provided by MGI
    Primary source
    MGI:MGI:1914763
    See related
    Ensembl:ENSMUSG00000073684 AllianceGenome:MGI:1914763
    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
    2610002J02Rik
    Summary
    Predicted to enable K63-linked polyubiquitin modification-dependent protein binding activity and ubiquitin-dependent protein binding activity. Predicted to be involved in interstrand cross-link repair and translesion synthesis. Predicted to act upstream of or within DNA repair. Predicted to be located in cell junction; chromosome; and nuclear body. Predicted to be part of Fanconi anaemia nuclear complex. Is expressed in several structures, including gonad; immune system; intestine; liver; and uterus. Orthologous to human FAAP20 (FA core complex associated protein 20). [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Ubiquitous expression in adrenal adult (RPKM 30.8), mammary gland adult (RPKM 20.8) and 28 other tissues See more
    Orthologs
    human all
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    Genomic context

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    Location:
    4 E2; 4 86.17 cM
    Exon count:
    4
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 4 NC_000070.7 (155333168..155341144)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 4 NC_000070.6 (155246904..155256687)

    Chromosome 4 - NC_000070.7Genomic Context describing neighboring genes Neighboring gene VISTA enhancer mm318 Neighboring gene predicted gene, 52713 Neighboring gene STARR-positive B cell enhancer ABC_E6296 Neighboring gene predicted gene, 33187 Neighboring gene STARR-seq mESC enhancer starr_12256 Neighboring gene protein kinase C, zeta Neighboring gene gamma-aminobutyric acid (GABA) A receptor, subunit delta

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Bibliography

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    Related articles in PubMed

    1. Loss of Faap20 Causes Hematopoietic Stem and Progenitor Cell Depletion in Mice Under Genotoxic Stress. Zhang T, et al. Stem Cells, 2015 Jul. PMID 25917546, Free PMC Article
    2. Forkhead transcription factor FoxF1 interacts with Fanconi anemia protein complexes to promote DNA damage response. Pradhan A, et al. Oncotarget, 2016 Jan 12. PMID 26625197, Free PMC Article
    3. Mutagenesis of diploid mammalian genes by gene entrapment. Lin Q, et al. Nucleic Acids Res, 2006. PMID 17062627, Free PMC Article
    4. Libraries enriched for alternatively spliced exons reveal splicing patterns in melanocytes and melanomas. Watahiki A, et al. Nat Methods, 2004 Dec. PMID 15782199
    5. Genome-wide expression profiling of mid-gestation placenta and embryo using a 15,000 mouse developmental cDNA microarray. Tanaka TS, et al. Proc Natl Acad Sci U S A, 2000 Aug 1. PMID 10922068, Free PMC Article

    See all (17) citations in PubMed

    GeneRIFs: Gene References Into Functions

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Endonuclease-mediated (2) 
    • Targeted (1) 

    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

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables K63-linked polyubiquitin modification-dependent protein binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables K63-linked polyubiquitin modification-dependent protein binding ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables polyubiquitin modification-dependent protein binding ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables ubiquitin binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables ubiquitin-modified protein reader activity ISO
    Inferred from Sequence Orthology
    more info
    		  
    Process Evidence Code Pubs
    involved_in DNA damage response IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in DNA damage response ISO
    Inferred from Sequence Orthology
    more info
    		  
    acts_upstream_of_or_within DNA repair IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in interstrand cross-link repair ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in translesion synthesis 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 cell junction ISO
    Inferred from Sequence Orthology
    more info
    		  
    part_of chromatin ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in chromosome ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in nuclear body 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 core complex-associated protein 20
    Names
    FANCA-associated protein of 20 kDa
    Fanconi anemia-associated protein of 20 kDa
    likely orthologue of H. sapiens chromosome 1 open reading frame 86 (C1orf86)

    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_001190445.1 → NP_001177374.1  Fanconi anemia core complex-associated protein 20 isoform a

      See identical proteins and their annotated locations for NP_001177374.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) encodes the longer isoform (a).
      Source sequence(s)
      AK011291, AL670413
      Consensus CDS
      CCDS57317.1
      UniProtKB/Swiss-Prot
      A2ADD8, Q0VG17, Q3UN58
      UniProtKB/TrEMBL
      F6QQ55
      Related
      ENSMUSP00000137116.2, ENSMUST00000178473.8
      Conserved Domains (2) summary
      pfam15750
      Location:152 → 184
      UBZ_FAAP20; Ubiquitin-binding zinc-finger
      pfam15751
      Location:34 → 145
      FANCA_interact; FAAP20 FANCA interaction domain

    2. NM_001347262.1 → NP_001334191.1  Fanconi anemia core complex-associated protein 20 isoform b

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) uses an alternate in-frame splice junction compared to variant 1. The resulting isoform (b) has the same N- and C-termini but is shorter compared to isoform a.
      Source sequence(s)
      AL670413
      Consensus CDS
      CCDS84835.1
      UniProtKB/TrEMBL
      F6QQ55
      Related
      ENSMUSP00000101252.2, ENSMUST00000105627.8

    RNA

    1. NR_033802.1 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) contains an alternate 5' exon, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AL670413
      Related
      ENSMUST00000097747.9

    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_000070.7 Reference GRCm39 C57BL/6J

      Range
      155333168..155341144
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_030253725.2 → XP_030109585.1  Fanconi anemia core complex-associated protein 20 isoform X1

      Conserved Domains (1) summary
      pfam15751
      Location:34 → 145
      FANCA_interact; FAAP20 FANCA interaction domain
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q3UN58.2 GenPept UniProtKB/Swiss-Prot:Q3UN58

    Gene LinkOut

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