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    Rsph1 radial spoke head 1 homolog (Chlamydomonas) [ Mus musculus (house mouse) ]

    Gene ID: 22092, updated on 2-Nov-2024

    Summary

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    Official Symbol
    Rsph1provided by MGI
    Official Full Name
    radial spoke head 1 homolog (Chlamydomonas)provided by MGI
    Primary source
    MGI:MGI:1194909
    See related
    Ensembl:ENSMUSG00000024033 AllianceGenome:MGI:1194909
    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
    MCA; Tsga2
    Summary
    Acts upstream of or within spermatid development. Located in condensed nuclear chromosome and cytoskeleton. Part of radial spoke head 1 and radial spoke head 3. Is expressed in several structures, including alimentary system; brain; genitourinary system; sensory organ; and skeleton. Human ortholog(s) of this gene implicated in colorectal adenocarcinoma and primary ciliary dyskinesia 24. Orthologous to human RSPH1 (radial spoke head component 1). [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Restricted expression toward testis adult (RPKM 217.4) See more
    Orthologs
    human all
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    Genomic context

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    See Rsph1 in Genome Data Viewer
    Location:
    17 B1; 17 15.94 cM
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 17 NC_000083.7 (31473993..31496270, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 17 NC_000083.6 (31255019..31277296, complement)

    Chromosome 17 - NC_000083.7Genomic Context describing neighboring genes Neighboring gene predicted gene 15318 Neighboring gene trefoil factor 1 Neighboring gene transmembrane protease, serine 3 Neighboring gene CapStarr-seq enhancer MGSCv37_chr17:31341993-31342102 Neighboring gene CapStarr-seq enhancer MGSCv37_chr17:31344766-31345042 Neighboring gene STARR-positive B cell enhancer ABC_E3196 Neighboring gene ubiquitin associated and SH3 domain containing, A Neighboring gene STARR-positive B cell enhancer ABC_E10945 Neighboring gene STARR-seq mESC enhancer starr_42328 Neighboring gene solute carrier family 37 (glycerol-3-phosphate transporter), member 1 Neighboring gene predicted gene, 30139 Neighboring gene STARR-seq mESC enhancer starr_42332 Neighboring gene phosphodiesterase 9A Neighboring gene STARR-seq mESC enhancer starr_42334 Neighboring gene predicted gene 9902

    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. Mice with a Deletion of Rsph1 Exhibit a Low Level of Mucociliary Clearance and Develop a Primary Ciliary Dyskinesia Phenotype. Yin W, et al. Am J Respir Cell Mol Biol, 2019 Sep. PMID 30896965, Free PMC Article
    2. MSAP, the meichroacidin homolog of carp (Cyprinus carpio), differs from the rodent counterpart in germline expression and involves flagellar differentiation. Ju TK, et al. Biol Reprod, 2004 Nov. PMID 15215198
    3. Meichroacidin containing the membrane occupation and recognition nexus motif is essential for spermatozoa morphogenesis. Tokuhiro K, et al. J Biol Chem, 2008 Jul 4. PMID 18453535
    4. Rsph4a is essential for the triplet radial spoke head assembly of the mouse motile cilia. Yoke H, et al. PLoS Genet, 2020 Mar. PMID 32203505, Free PMC Article
    5. CCDC189 affects sperm flagellum formation by interacting with CABCOCO1. Wang M, et al. Natl Sci Rev, 2023 Sep. PMID 37601242, Free PMC Article

    See all (35) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Tsga2 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.
    2. Tsga2 fulfills many of the prerequisites required to make it a strong candidate for Ccub1, an element of Cucb positioned within a genomic interval spanning approximately 0.6 Mb immediately distal to Dnahc8.
      Title: The mouse T complex gene Tsga2, encoding polypeptides located in the sperm tail and anterior acrosome, maps to a locus associated with sperm motility and sperm-egg interaction abnormalities.
    Submit: New GeneRIF Correction

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Endonuclease-mediated (2) 
    • Targeted (3)  1 citation

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    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 axoneme assembly IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in axoneme assembly ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in axoneme assembly ISS
    Inferred from Sequence or Structural Similarity
    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 meiotic cell cycle IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in spermatid development IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    acts_upstream_of_or_within spermatid development 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 axoneme IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in condensed nuclear chromosome IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in extracellular region IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in meiotic spindle IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    is_active_in motile cilium IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in motile cilium ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in motile cilium ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in outer dense fiber 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 1 homolog
    Names
    male meiotic metaphase chromosome-associated acidic protein
    meichroacidin
    testis-specific gene A2 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)

    1. NM_001364916.1 → NP_001351845.1  radial spoke head 1 homolog isoform 2

      Status: VALIDATED

      Source sequence(s)
      AK005739, BP771558, DQ141555
      Consensus CDS
      CCDS89057.1
      UniProtKB/TrEMBL
      Q3YE99, Q3YEA0
      Related
      ENSMUSP00000158337.2, ENSMUST00000235144.2
      Conserved Domains (1) summary
      cl27415
      Location:19 → 149
      COG4642; Uncharacterized conserved protein [Function unknown]

    2. NM_025290.4 → NP_079566.1  radial spoke head 1 homolog isoform 1

      See identical proteins and their annotated locations for NP_079566.1

      Status: VALIDATED

      Source sequence(s)
      AC154652
      Consensus CDS
      CCDS28604.1
      UniProtKB/Swiss-Prot
      Q8VIG3, Q9DAL5
      UniProtKB/TrEMBL
      Q3YEA4, Q3YEA6
      Related
      ENSMUSP00000024832.8, ENSMUST00000024832.9
      Conserved Domains (1) summary
      PLN03185
      Location:20 → 148
      PLN03185; phosphatidylinositol phosphate kinase; Provisional

    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
      31473993..31496270 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8VIG3.2 GenPept UniProtKB/Swiss-Prot:Q8VIG3

    Gene LinkOut

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

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