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

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: Involved in male gonad development. 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 cytosol. Is active in apical cytoplasm. 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, Nov 2024]
Expression: Biased expression in testis adult (RPKM 9.8), cortex adult (RPKM 1.2) and 1 other tissue See more
Orthologs: human all
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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_000081.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

LRRC6 regulates biogenesis of motile cilia by aiding FOXJ1 translocation into the nucleus.
Title: LRRC6 regulates biogenesis of motile cilia by aiding FOXJ1 translocation into the nucleus.
Our results suggest that outer dynein arms proteins may be transported from the cytoplasm to the cilia by an Lrrc6-dependent mechanism.
Title: Transport of the outer dynein arm complex to cilia requires a cytoplasmic protein Lrrc6.
Lrrc6 is most abundantly expressed in tissues rich in highly ciliated cells, such as olfactory sensory neurons, and is predicted to be important to cilia.
Title: Tissue expression patterns identify mouse cilia genes.

Submit: New GeneRIF Correction

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Targeted (3) 1 citation

General gene information

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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
involved_in axonemal dynein complex assembly	ISS Inferred from Sequence or Structural Similarity 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	IEA Inferred from Electronic Annotation 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	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	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
involved_in protein localization to motile cilium	ISS Inferred from Sequence or Structural Similarity 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 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 dynein axonemal particle	ISS Inferred from Sequence or Structural Similarity more info
located_in extracellular region	IEA Inferred from Electronic Annotation more info
located_in motile cilium	IEA Inferred from Electronic Annotation more info

General protein information

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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)

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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)

NM_019457.2 → NP_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:23 → 45

LRR_1; leucine-rich repeat [structural motif]

pfam12799
Location:46 → 86

LRR_4; Leucine Rich repeats (2 copies)

pfam13855
Location:46 → 98

LRR_8; Leucine rich repeat