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    Rsph9 radial spoke head 9 homolog (Chlamydomonas) [ Mus musculus (house mouse) ]

    Gene ID: 75564, updated on 2-Nov-2024

    Summary

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    Official Symbol
    Rsph9provided by MGI
    Official Full Name
    radial spoke head 9 homolog (Chlamydomonas)provided by MGI
    Primary source
    MGI:MGI:1922814
    See related
    Ensembl:ENSMUSG00000023966 AllianceGenome:MGI:1922814
    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
    1700027N10Rik
    Summary
    Involved in axonemal central apparatus assembly; cilium movement; and radial spoke assembly. Located in axoneme and sperm flagellum. Part of radial spoke head 1 and radial spoke head 3. Is expressed in several structures, including adrenal gland; brain ventricle; gut gland; ovary; and retina. Human ortholog(s) of this gene implicated in primary ciliary dyskinesia 12. Orthologous to human RSPH9 (radial spoke head component 9). [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Biased expression in testis adult (RPKM 48.0), CNS E18 (RPKM 9.8) and 9 other tissues See more
    Orthologs
    human all
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    Genomic context

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    See Rsph9 in Genome Data Viewer
    Location:
    17 22.87 cM; 17 C
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 17 NC_000083.7 (46432964..46455171, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 17 NC_000083.6 (46122038..46144242, complement)

    Chromosome 17 - NC_000083.7Genomic Context describing neighboring genes Neighboring gene STARR-seq mESC enhancer starr_42657 Neighboring gene vascular endothelial growth factor A Neighboring gene STARR-positive B cell enhancer ABC_E5613 Neighboring gene CapStarr-seq enhancer MGSCv37_chr17:46210901-46211088 Neighboring gene polymerase (RNA) II (DNA directed) polypeptide K pseudogene Neighboring gene mitochondrial ribosomal protein S18A Neighboring gene MAD2L1 binding protein Neighboring gene STARR-positive B cell enhancer ABC_E5614 Neighboring gene STARR-positive B cell enhancer ABC_E5615 Neighboring gene GTP binding protein 2

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Mouse ENCODE transcriptome data 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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    Related articles in PubMed

    1. Loss of Rsph9 causes neonatal hydrocephalus with abnormal development of motile cilia in mice. Zou W, et al. Sci Rep, 2020 Jul 24. PMID 32709945, Free PMC Article
    2. Rsph9 is critical for ciliary radial spoke assembly and central pair microtubule stability. Zhu L, et al. Biol Cell, 2019 Feb. PMID 30383886
    3. Distinct architecture and composition of mouse axonemal radial spoke head revealed by cryo-EM. Zheng W, et al. Proc Natl Acad Sci U S A, 2021 Jan 26. PMID 34871179, Free PMC Article
    4. RSPH6A is required for sperm flagellum formation and male fertility in mice. Abbasi F, et al. J Cell Sci, 2018 Oct 11. PMID 30185526, Free PMC Article
    5. Mutations in radial spoke head protein genes RSPH9 and RSPH4A cause primary ciliary dyskinesia with central-microtubular-pair abnormalities. Castleman VH, et al. Am J Hum Genet, 2009 Feb. PMID 19200523, Free PMC Article

    See all (27) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Loss of Rsph9 causes neonatal hydrocephalus with abnormal development of motile cilia in mice.
      Title: Loss of Rsph9 causes neonatal hydrocephalus with abnormal development of motile cilia in mice.
    2. Rsph9 was specifically expressed in mouse tissues containing motile cilia and upregulated during multiciliation.
      Title: Rsph9 is critical for ciliary radial spoke assembly and central pair microtubule stability.
    Submit: New GeneRIF Correction

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Endonuclease-mediated (2)  1 citation
    • Targeted (4) 

    General gene information

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    Markers

    Homology

    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 central apparatus assembly IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in axoneme assembly IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in axoneme assembly IGI
    Inferred from Genetic Interaction
    more info
    		 PubMed 
    involved_in axoneme assembly ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in cilium movement IGI
    Inferred from Genetic Interaction
    more info
    		 PubMed 
    involved_in cilium movement ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in cilium movement involved in cell motility IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in epithelial cilium movement involved in extracellular fluid movement IC
    Inferred by Curator
    more info
    		 PubMed 
    involved_in flagellated sperm motility IC
    Inferred by Curator
    more info
    		 PubMed 
    involved_in mating IC
    Inferred by Curator
    more info
    		 PubMed 
    involved_in motile cilium assembly IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in radial spoke assembly IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in 9+2 motile cilium IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    is_active_in axoneme IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in axoneme IC
    Inferred by Curator
    more info
    		 PubMed 
    located_in axoneme IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in extracellular region IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in kinocilium IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in motile cilium IC
    Inferred by Curator
    more info
    		 PubMed 
    located_in motile cilium IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    part_of radial spoke IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    part_of radial spoke head IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    part_of radial spoke head 1 IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    part_of radial spoke head 3 IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in sperm flagellum IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    radial spoke head protein 9 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_029338.4 → NP_083614.1  radial spoke head protein 9 homolog

      See identical proteins and their annotated locations for NP_083614.1

      Status: VALIDATED

      Source sequence(s)
      AC110562
      Consensus CDS
      CCDS28820.1
      UniProtKB/Swiss-Prot
      Q9D9V4
      UniProtKB/TrEMBL
      Q3TMP7
      Related
      ENSMUSP00000024762.3, ENSMUST00000024762.3
      Conserved Domains (1) summary
      pfam04712
      Location:17 → 274
      Radial_spoke; Radial spokehead-like protein

    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_000083.7 Reference GRCm39 C57BL/6J

      Range
      46432964..46455171 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006525075.4 → XP_006525138.1  radial spoke head protein 9 homolog isoform X2

      See identical proteins and their annotated locations for XP_006525138.1

      Conserved Domains (1) summary
      pfam04712
      Location:17 → 60
      Radial_spoke; Radial spokehead-like protein

    2. XM_011246700.4 → XP_011245002.2  radial spoke head protein 9 homolog isoform X3

      Conserved Domains (1) summary
      pfam04712
      Location:132 → 171
      Radial_spoke; Radial spokehead-like protein

    3. XM_006525074.5 → XP_006525137.1  radial spoke head protein 9 homolog isoform X1

      Conserved Domains (1) summary
      pfam04712
      Location:17 → 60
      Radial_spoke; Radial spokehead-like protein
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9D9V4.1 GenPept UniProtKB/Swiss-Prot:Q9D9V4

    Gene LinkOut

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

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