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    Dnaaf1 dynein, axonemal assembly factor 1 [ Mus musculus (house mouse) ]

    Gene ID: 68270, updated on 9-Dec-2024

    Summary

    Official Symbol
    Dnaaf1provided by MGI
    Official Full Name
    dynein, axonemal assembly factor 1provided by MGI
    Primary source
    MGI:MGI:1915520
    See related
    Ensembl:ENSMUSG00000031831 AllianceGenome:MGI:1915520
    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
    m4Bei; Lrrc50; 4930457P18Rik
    Summary
    Predicted to enable dynein complex binding activity. Predicted to be involved in several processes, including cilium assembly; determination of left/right symmetry; and regulation of cilium beat frequency. Predicted to be located in cytosol; nuclear speck; and plasma membrane. Predicted to be active in axoneme. Is expressed in several structures, including genitourinary system; liver; node; nose; and spleen. Human ortholog(s) of this gene implicated in primary ciliary dyskinesia 13. Orthologous to human DNAAF1 (dynein axonemal assembly factor 1). [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Biased expression in testis adult (RPKM 269.9) and duodenum adult (RPKM 6.3) See more
    Orthologs
    NEW
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    Genomic context

    See Dnaaf1 in Genome Data Viewer
    Location:
    8 E1; 8 67.98 cM
    Exon count:
    12
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 8 NC_000074.7 (120301974..120325193)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 8 NC_000074.6 (119575235..119598454)

    Chromosome 8 - NC_000074.7Genomic Context describing neighboring genes Neighboring gene membrane-bound transcription factor peptidase, site 1 Neighboring gene STARR-seq mESC enhancer starr_22853 Neighboring gene STARR-positive B cell enhancer mm9_chr8:122082621-122082922 Neighboring gene CapStarr-seq enhancer MGSCv37_chr8:122087691-122087878 Neighboring gene CapStarr-seq enhancer MGSCv37_chr8:122087910-122088232 Neighboring gene CapStarr-seq enhancer MGSCv37_chr8:122093859-122094132 Neighboring gene hydroxysteroid dehydrogenase like 1 Neighboring gene STARR-seq mESC enhancer starr_22854 Neighboring gene STARR-seq mESC enhancer starr_22855 Neighboring gene STARR-positive B cell enhancer ABC_E1772 Neighboring gene ribosomal protein S13, pseudogene 4 Neighboring gene TATA-box binding protein associated factor, RNA polymerase I, C Neighboring gene adenosine deaminase domain containing 2

    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

    Variation

    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Chemically induced (ENU) (1)  1 citation
    • Endonuclease-mediated (3) 

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables dynein complex binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables dynein complex binding ISO
    Inferred from Sequence Orthology
    more info
     
    enables dynein complex binding ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    Process Evidence Code Pubs
    involved_in axonemal dynein complex assembly ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in axoneme assembly IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in cilium assembly ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in cilium assembly ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in cilium movement IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cilium movement ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in determination of digestive tract left/right asymmetry IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in determination of digestive tract left/right asymmetry ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in determination of liver left/right asymmetry IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in determination of liver left/right asymmetry ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in determination of pancreatic left/right asymmetry IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in determination of pancreatic left/right asymmetry ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in heart looping IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in heart looping ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in inner dynein arm assembly IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in inner dynein arm assembly ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in left/right pattern formation ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in lung development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in lung development ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in motile cilium assembly IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in motile cilium assembly ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in outer dynein arm assembly IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in outer dynein arm assembly ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in regulation of cilium beat frequency IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in regulation of cilium beat frequency ISO
    Inferred from Sequence Orthology
    more info
     
    Component Evidence Code Pubs
    is_active_in axoneme IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in axoneme ISO
    Inferred from Sequence Orthology
    more info
     
    located_in axoneme ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in cytosol IEA
    Inferred from Electronic Annotation
    more info
     
    located_in cytosol ISO
    Inferred from Sequence Orthology
    more info
     
    located_in nuclear speck IEA
    Inferred from Electronic Annotation
    more info
     
    located_in nuclear speck ISO
    Inferred from Sequence Orthology
    more info
     
    located_in plasma membrane IEA
    Inferred from Electronic Annotation
    more info
     
    located_in plasma membrane ISO
    Inferred from Sequence Orthology
    more info
     

    General protein information

    Preferred Names
    dynein axonemal assembly factor 1
    Names
    dynein assembly factor 1, axonemal
    leucine-rich repeat-containing protein 50

    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_026648.4NP_080924.1  dynein axonemal assembly factor 1

      See identical proteins and their annotated locations for NP_080924.1

      Status: VALIDATED

      Source sequence(s)
      AC104882
      Consensus CDS
      CCDS22709.1
      UniProtKB/Swiss-Prot
      Q9CVS9, Q9D2H9
      Related
      ENSMUSP00000090790.3, ENSMUST00000093100.3
      Conserved Domains (3) summary
      cd00116
      Location:116252
      LRR_RI; Leucine-rich repeats (LRRs), ribonuclease inhibitor (RI)-like subfamily. LRRs are 20-29 residue sequence motifs present in many proteins that participate in protein-protein interactions and have different functions and cellular locations. LRRs correspond ...
      sd00033
      Location:105124
      LRR_RI; leucine-rich repeat [structural motif]
      pfam13855
      Location:145201
      LRR_8; Leucine rich 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_000074.7 Reference GRCm39 C57BL/6J

      Range
      120301974..120325193
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)