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

Gene ID: 75564, updated on 5-Mar-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 motile cilium. 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, Apr 2022]
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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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
  • 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 (24) 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)
  • Targeted (4) 
  • Endonuclease-mediated (2)  1 citation

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
  
acts_upstream_of_or_within cell projection organization IEA
Inferred from Electronic Annotation
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 
located_in 9+2 motile cilium ISO
Inferred from Sequence Orthology
more info
  
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 axoneme ISO
Inferred from Sequence Orthology
more info
  
located_in cell projection IEA
Inferred from Electronic Annotation
more info
  
located_in cilium IEA
Inferred from Electronic Annotation
more info
  
located_in cytoplasm IEA
Inferred from Electronic Annotation
more info
  
located_in cytoskeleton 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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