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    Dnaaf11 dynein axonemal assembly factor 11 [ Mus musculus (house mouse) ]

    Gene ID: 54562, updated on 5-Mar-2024

    Summary

    Official Symbol
    Dnaaf11provided by MGI
    Official Full Name
    dynein axonemal assembly factor 11provided by MGI
    Primary source
    MGI:MGI:1859553
    See related
    Ensembl:ENSMUSG00000022375 AllianceGenome:MGI:1859553
    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
    LRTP; Lrrc6
    Summary
    Acts upstream of or within several processes, including epithelial cilium movement involved in extracellular fluid movement; flagellated sperm motility; and outer dynein arm assembly. Located in apical cytoplasm and cytosol. Used to study primary ciliary dyskinesia 19. Human ortholog(s) of this gene implicated in primary ciliary dyskinesia 19. Orthologous to human DNAAF11 (dynein axonemal assembly factor 11). [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Biased expression in testis adult (RPKM 9.8), cortex adult (RPKM 1.2) and 1 other tissue See more
    Orthologs
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    Genomic context

    Location:
    15 D1; 15 29.22 cM
    Exon count:
    12
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 15 NC_000081.7 (66251707..66372769, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 15 NC_000081.6 (66379858..66500921, complement)

    Chromosome 15 - NC_000081.7Genomic Context describing neighboring genes Neighboring gene predicted gene, 30929 Neighboring gene predicted gene, 41340 Neighboring gene ribosome production factor 2 homolog pseudogene Neighboring gene STARR-seq mESC enhancer starr_38885 Neighboring gene STARR-positive B cell enhancer mm9_chr15:66307463-66307764 Neighboring gene predicted gene, 31006 Neighboring gene STARR-seq mESC enhancer starr_38888 Neighboring gene transmembrane protein 71 Neighboring gene STARR-positive B cell enhancer mm9_chr15:66392494-66392795 Neighboring gene PHD finger protein 20-like 1

    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)

    General gene information

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in axonemal dynein complex assembly ISO
    Inferred from Sequence Orthology
    more info
     
    acts_upstream_of_or_within cerebrospinal fluid circulation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within cilium movement IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in cilium movement ISO
    Inferred from Sequence Orthology
    more info
     
    acts_upstream_of_or_within epithelial cilium movement involved in determination of left/right asymmetry IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in epithelial cilium movement involved in determination of left/right asymmetry ISO
    Inferred from Sequence Orthology
    more info
     
    acts_upstream_of epithelial cilium movement involved in extracellular fluid movement IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of establishment of localization in cell IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within flagellated sperm motility IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in flagellated sperm motility ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in inner dynein arm assembly ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in male gonad development IEP
    Inferred from Expression Pattern
    more info
    PubMed 
    involved_in motile cilium assembly ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in outer dynein arm assembly IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    acts_upstream_of_or_within outer dynein arm assembly IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in outer dynein arm assembly ISO
    Inferred from Sequence Orthology
    more info
     
    acts_upstream_of_or_within protein localization to cilium IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in protein localization to motile cilium ISO
    Inferred from Sequence Orthology
    more info
     
    acts_upstream_of_or_within regulation of protein binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in reproductive system development ISO
    Inferred from Sequence Orthology
    more info
     
    Component Evidence Code Pubs
    is_active_in apical cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in cell projection IEA
    Inferred from Electronic Annotation
    more info
     
    located_in cilium ISO
    Inferred from Sequence Orthology
    more info
     
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in cytoplasm ISO
    Inferred from Sequence Orthology
    more info
     
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
    PubMed 
    is_active_in cytosol IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    located_in motile cilium IEA
    Inferred from Electronic Annotation
    more info
     

    General protein information

    Preferred Names
    dynein axonemal assembly factor 11
    Names
    leucine rich repeat containing 6 (testis)
    leucine-rich repeat-containing protein 6
    leucine-rich testis-specific protein
    protein TILB homolog
    testis-specific leucine-rich repeat protein

    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_019457.2NP_062330.1  dynein axonemal assembly factor 11

      See identical proteins and their annotated locations for NP_062330.1

      Status: VALIDATED

      Source sequence(s)
      BC046277, CJ046721
      Consensus CDS
      CCDS49620.1
      UniProtKB/Swiss-Prot
      O88978, Q9CUG2
      Related
      ENSMUSP00000023006.7, ENSMUST00000023006.7
      Conserved Domains (3) summary
      sd00031
      Location:2345
      LRR_1; leucine-rich repeat [structural motif]
      pfam12799
      Location:4686
      LRR_4; Leucine Rich repeats (2 copies)
      pfam13855
      Location:4698
      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_000081.7 Reference GRCm39 C57BL/6J

      Range
      66251707..66372769 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_030248662.2XP_030104522.1  dynein axonemal assembly factor 11 isoform X1