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    Dnaaf3 dynein, axonemal assembly factor 3 [ Mus musculus (house mouse) ]

    Gene ID: 436022, updated on 9-Dec-2024

    Summary

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    Official Symbol
    Dnaaf3provided by MGI
    Official Full Name
    dynein, axonemal assembly factor 3provided by MGI
    Primary source
    MGI:MGI:3588207
    See related
    Ensembl:ENSMUSG00000055809 AllianceGenome:MGI:3588207
    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
    b2b1739Clo; 6030429G01Rik
    Summary
    Acts upstream of or within determination of left/right symmetry and heart development. Predicted to be located in dynein axonemal particle. Is expressed in brain; lung; ovary; oviduct; and testis. Used to study Kartagener syndrome; primary ciliary dyskinesia 2; and visceral heterotaxy. Human ortholog(s) of this gene implicated in primary ciliary dyskinesia 2. Orthologous to human DNAAF3 (dynein axonemal assembly factor 3). [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Biased expression in testis adult (RPKM 63.1), lung adult (RPKM 7.7) and 4 other tissues See more
    Orthologs
    human all
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    Genomic context

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    See Dnaaf3 in Genome Data Viewer
    Location:
    7 A1; 7 2.61 cM
    Exon count:
    12
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 7 NC_000073.7 (4525932..4535487, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 7 NC_000073.6 (4522933..4532488, complement)

    Chromosome 7 - NC_000073.7Genomic Context describing neighboring genes Neighboring gene protein phosphatase 1, regulatory subunit 12C Neighboring gene CapStarr-seq enhancer MGSCv37_chr7:4461475-4461662 Neighboring gene troponin T1, skeletal, slow Neighboring gene troponin I, cardiac 3 Neighboring gene synaptotagmin V Neighboring gene protein tyrosine phosphatase receptor type H

    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. A novel homozygous mutation in the DNAAF3 gene leads to severe asthenozoospermia and teratospermia. Chen D, et al. J Cell Mol Med, 2024 Sep. PMID 39289782, Free PMC Article
    2. A null allele of Dnaaf2 displays embryonic lethality and mimics human ciliary dyskinesia. Cheong A, et al. Hum Mol Genet, 2019 Aug 15. PMID 31107948, Free PMC Article
    3. Pih1d3 is required for cytoplasmic preassembly of axonemal dynein in mouse sperm. Dong F, et al. J Cell Biol, 2014 Jan 20. PMID 24421334, Free PMC Article
    4. Global genetic analysis in mice unveils central role for cilia in congenital heart disease. Li Y, et al. Nature, 2015 May 28. PMID 25807483, Free PMC Article
    5. Fancd2 in vivo interaction network reveals a non-canonical role in mitochondrial function. Zhang T, et al. Sci Rep, 2017 Apr 5. PMID 28378742, 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)
    • Chemically induced (ENU) (1) 
    • Endonuclease-mediated (2) 

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Homology

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables molecular_function ND
    No biological Data available
    more info
    		  
    Process Evidence Code Pubs
    involved_in axonemal dynein complex assembly IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in axonemal dynein complex assembly ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in axonemal dynein complex assembly ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    acts_upstream_of_or_within determination of left/right symmetry IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within heart development IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in motile cilium assembly IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in motile cilium assembly ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in motile cilium assembly ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    Component Evidence Code Pubs
    is_active_in cellular_component ND
    No biological Data available
    more info
    		  
    located_in dynein axonemal particle ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  

    General protein information

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    Preferred Names
    dynein axonemal assembly factor 3
    Names
    UPF0470 protein C19orf51 homolog
    dynein assembly factor 3, axonemal

    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_001033548.3 → NP_001028720.1  dynein axonemal assembly factor 3

      See identical proteins and their annotated locations for NP_001028720.1

      Status: VALIDATED

      Source sequence(s)
      AC161218, AI429530, AK134335
      Consensus CDS
      CCDS20737.1
      UniProtKB/Swiss-Prot
      B2RX55, Q3UYV8
      Related
      ENSMUSP00000092498.5, ENSMUST00000094897.5
      Conserved Domains (2) summary
      pfam14737
      Location:18 → 122
      DUF4470; Domain of unknown function (DUF4470)
      pfam14740
      Location:154 → 433
      DUF4471; Domain of unknown function (DUF4471)

    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_000073.7 Reference GRCm39 C57BL/6J

      Range
      4525932..4535487 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006540166.3 → XP_006540229.1  dynein axonemal assembly factor 3 isoform X1

      Conserved Domains (3) summary
      PTZ00436
      Location:402 → 524
      PTZ00436; 60S ribosomal protein L19-like protein; Provisional
      pfam14737
      Location:11 → 64
      DUF4470; Domain of unknown function (DUF4470)
      pfam14740
      Location:96 → 376
      DUF4471; Domain of unknown function (DUF4471)
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q3UYV8.1 GenPept UniProtKB/Swiss-Prot:Q3UYV8

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

    Chemical Information
    Molecular Biology Databases
    Research Materials
    Tools