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    Dnaaf4 dynein axonemal assembly factor 4 [ Mus musculus (house mouse) ]

    Gene ID: 67685, updated on 4-Jan-2025

    Summary

    Official Symbol
    Dnaaf4provided by MGI
    Official Full Name
    dynein axonemal assembly factor 4provided by MGI
    Primary source
    MGI:MGI:1914935
    See related
    Ensembl:ENSMUSG00000092192 AllianceGenome:MGI:1914935
    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
    EKN1; Dyx1c1; b2b811Clo; b2b811.1Clo; 1700010I24Rik
    Summary
    Predicted to enable nuclear estrogen receptor binding activity. Involved in axonemal dynein complex assembly; cilium movement; and determination of left/right symmetry. Acts upstream of or within several processes, including epithelial cilium movement involved in extracellular fluid movement; heart development; and learning or memory. Located in cytoplasm. Is expressed in several structures, including alimentary system; central nervous system; genitourinary system; respiratory system; and spleen. Used to study Robinow syndrome and primary ciliary dyskinesia 25. Human ortholog(s) of this gene implicated in dyslexia and primary ciliary dyskinesia 25. Orthologous to human DNAAF4 (dynein axonemal assembly factor 4). [provided by Alliance of Genome Resources, Jan 2025]
    Expression
    Biased expression in testis adult (RPKM 2.3), CNS E11.5 (RPKM 0.5) and 14 other tissues See more
    Orthologs
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    Genomic context

    See Dnaaf4 in Genome Data Viewer
    Location:
    9 D; 9 40.08 cM
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 9 NC_000075.7 (72863574..72880971)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 9 NC_000075.6 (72957372..72973689)

    Chromosome 9 - NC_000075.7Genomic Context describing neighboring genes Neighboring gene STARR-seq mESC enhancer starr_24613 Neighboring gene protogenin Neighboring gene STARR-seq mESC enhancer starr_24614 Neighboring gene CapStarr-seq enhancer MGSCv37_chr9:72738604-72738787 Neighboring gene STARR-seq mESC enhancer starr_24618 Neighboring gene pygopus 1 Neighboring gene CapStarr-seq enhancer MGSCv37_chr9:72809821-72810010 Neighboring gene STARR-positive B cell enhancer ABC_E3843 Neighboring gene predicted gene, 23567 Neighboring gene STARR-seq mESC enhancer starr_24620 Neighboring gene piercer of microtubule wall 2 Neighboring gene cell cycle progression 1 Neighboring gene phosphatidylinositol glycan anchor biosynthesis, class B

    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

    Variation

    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Chemically induced (ENU) (1) 
    • Targeted (4)  1 citation

    Interactions

    General gene information

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables nuclear estrogen receptor binding  
    enables nuclear estrogen receptor binding  
    enables nuclear estrogen receptor binding  
    enables protein binding PubMed 
    Process Evidence Code Pubs
    involved_in cilium movement PubMed 
    involved_in cilium movement  
    involved_in determination of left/right symmetry  
    acts_upstream_of_or_within determination of left/right symmetry PubMed 
    involved_in determination of left/right symmetry PubMed 
    involved_in determination of left/right symmetry  
    involved_in epithelial cilium movement involved in extracellular fluid movement  
    acts_upstream_of_or_within epithelial cilium movement involved in extracellular fluid movement PubMed 
    acts_upstream_of_or_within establishment of localization in cell PubMed 
    involved_in heart development  
    acts_upstream_of_or_within heart development PubMed 
    involved_in inner dynein arm assembly  
    involved_in inner dynein arm assembly PubMed 
    involved_in inner dynein arm assembly  
    acts_upstream_of_or_within learning or memory PubMed 
    involved_in neuron migration  
    involved_in neuron migration  
    involved_in outer dynein arm assembly  
    involved_in outer dynein arm assembly PubMed 
    involved_in outer dynein arm assembly  
    involved_in regulation of intracellular estrogen receptor signaling pathway  
    involved_in regulation of intracellular estrogen receptor signaling pathway  
    involved_in regulation of proteasomal protein catabolic process  
    involved_in regulation of proteasomal protein catabolic process  
    Component Evidence Code Pubs
    located_in centrosome  
    located_in cytoplasm PubMed 
    located_in cytoplasm  
    located_in cytoplasm  
    located_in cytosol  
    located_in cytosol  
    located_in dynein axonemal particle  
    located_in extracellular region  
    located_in neuron projection  
    located_in non-motile cilium  
    located_in nucleus  
    located_in nucleus  
    located_in plasma membrane  
    located_in plasma membrane  

    General protein information

    Preferred Names
    dynein axonemal assembly factor 4
    Names
    dynein assembly factor 4, axonemal
    dyslexia susceptibility 1 candidate 1 homolog
    dyslexia susceptibility 1 candidate gene 1 protein homolog

    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_001163725.1NP_001157197.1  dynein axonemal assembly factor 4 isoform 2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) lacks exons in the coding region, compared to variant 1. The encoded isoform (2) is shorter, compared to isoform 1.
      Source sequence(s)
      AC158997
      Consensus CDS
      CCDS52854.1
      UniProtKB/TrEMBL
      E9Q973, Q5QIE1
      Related
      ENSMUSP00000096166.3, ENSMUST00000098567.9
      Conserved Domains (5) summary
      cd06469
      Location:1087
      p23_DYX1C1_like; p23_like domain found in proteins similar to dyslexia susceptibility 1 (DYX1) candidate 1 (C1) protein, DYX1C1. The human gene encoding this protein is a positional candidate gene for developmental dyslexia (DD), it is located on 15q21.3 by the DYX1 DD ...
      sd00006
      Location:168196
      TPR; TPR repeat [structural motif]
      pfam00515
      Location:202231
      TPR_1; Tetratricopeptide repeat
      pfam13414
      Location:167231
      TPR_11; TPR repeat
      pfam13424
      Location:204276
      TPR_12; Tetratricopeptide repeat
    2. NM_026314.3NP_080590.3  dynein axonemal assembly factor 4 isoform 1

      See identical proteins and their annotated locations for NP_080590.3

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      AC158997, AK005832, AK161368
      Consensus CDS
      CCDS23333.1
      UniProtKB/Swiss-Prot
      G3X916, Q8R368
      UniProtKB/TrEMBL
      Q5VJS4
      Related
      ENSMUSP00000034734.9, ENSMUST00000034734.9
      Conserved Domains (5) summary
      cd06469
      Location:1087
      p23_DYX1C1_like; p23_like domain found in proteins similar to dyslexia susceptibility 1 (DYX1) candidate 1 (C1) protein, DYX1C1. The human gene encoding this protein is a positional candidate gene for developmental dyslexia (DD), it is located on 15q21.3 by the DYX1 DD ...
      sd00006
      Location:288316
      TPR; TPR repeat [structural motif]
      pfam00515
      Location:322351
      TPR_1; Tetratricopeptide repeat
      pfam13414
      Location:287351
      TPR_11; TPR repeat
      pfam13424
      Location:324396
      TPR_12; Tetratricopeptide repeat

    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_000075.7 Reference GRCm39 C57BL/6J

      Range
      72863574..72880971
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006511382.5XP_006511445.1  dynein axonemal assembly factor 4 isoform X2

      UniProtKB/TrEMBL
      E9PYU5
      Conserved Domains (4) summary
      cd06469
      Location:1087
      p23_DYX1C1_like; p23_like domain found in proteins similar to dyslexia susceptibility 1 (DYX1) candidate 1 (C1) protein, DYX1C1. The human gene encoding this protein is a positional candidate gene for developmental dyslexia (DD), it is located on 15q21.3 by the DYX1 DD ...
      PTZ00121
      Location:106270
      PTZ00121; MAEBL; Provisional
      TIGR00990
      Location:250351
      3a0801s09; mitochondrial precursor proteins import receptor (72 kDa mitochondrial outermembrane protein) (mitochondrial import receptor for the ADP/ATP carrier) (translocase of outermembrane tom70)
      sd00006
      Location:288316
      TPR; TPR repeat [structural motif]
    2. XM_017313537.2XP_017169026.1  dynein axonemal assembly factor 4 isoform X1

      Conserved Domains (3) summary
      cd06469
      Location:1087
      p23_DYX1C1_like; p23_like domain found in proteins similar to dyslexia susceptibility 1 (DYX1) candidate 1 (C1) protein, DYX1C1. The human gene encoding this protein is a positional candidate gene for developmental dyslexia (DD), it is located on 15q21.3 by the DYX1 DD ...
      TIGR00990
      Location:93270
      3a0801s09; mitochondrial precursor proteins import receptor (72 kDa mitochondrial outermembrane protein) (mitochondrial import receptor for the ADP/ATP carrier) (translocase of outermembrane tom70)
      sd00006
      Location:164192
      TPR; TPR repeat [structural motif]
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