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

Gene ID: 67513, updated on 11-Apr-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

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. 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)
  • Targeted (1) 
  • Endonuclease-mediated (2) 

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

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