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    Rsph6a radial spoke head 6 homolog A (Chlamydomonas) [ Mus musculus (house mouse) ]

    Gene ID: 83434, updated on 9-Dec-2024

    Summary

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    Official Symbol
    Rsph6aprovided by MGI
    Official Full Name
    radial spoke head 6 homolog A (Chlamydomonas)provided by MGI
    Primary source
    MGI:MGI:1927643
    See related
    Ensembl:ENSMUSG00000040866 AllianceGenome:MGI:1927643
    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
    RSP4; Rshl1
    Summary
    Involved in manchette disassembly and sperm flagellum assembly. Located in axoneme and sperm flagellum. Part of radial spoke head. Orthologous to human RSPH6A (radial spoke head 6 homolog A). [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Restricted expression toward testis adult (RPKM 80.9) See more
    Orthologs
    human all
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    Genomic context

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    See Rsph6a in Genome Data Viewer
    Location:
    7 A3; 7 9.46 cM
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 7 NC_000073.7 (18788603..18808384)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 7 NC_000073.6 (19054678..19074447)

    Chromosome 7 - NC_000073.7Genomic Context describing neighboring genes Neighboring gene forkhead box A3 Neighboring gene symplekin Neighboring gene STARR-positive B cell enhancer ABC_E8152 Neighboring gene dystrophia myotonica-containing WD repeat motif Neighboring gene microRNA 3100 Neighboring gene dystrophia myotonica-protein kinase

    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. CRISPR/CAS9-mediated amino acid substitution reveals phosphorylation residues of RSPH6A are not essential for male fertility in mice†. Miyata H, et al. Biol Reprod, 2020 Oct 29. PMID 32901808, Free PMC Article
    2. Sperm capacitation is associated with phosphorylation of the testis-specific radial spoke protein Rsph6a†. Paudel B, et al. Biol Reprod, 2019 Feb 1. PMID 30239614, Free PMC Article
    3. A mammalian radial spokehead-like gene, RSHL1, at the myotonic dystrophy-1 locus. Eriksson M, et al. Biochem Biophys Res Commun, 2001 Mar 9. PMID 11237735
    4. 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
    5. 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

    See all (15) citations in PubMed

    GeneRIFs: Gene References Into Functions

    Variation

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    Alleles

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

    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 cilium movement IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in flagellated sperm motility IC
    Inferred by Curator
    more info
    		 PubMed 
    involved_in manchette disassembly IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in mating IC
    Inferred by Curator
    more info
    		 PubMed 
    involved_in sperm flagellum assembly IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    is_active_in axoneme IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in axoneme 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 IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    part_of radial spoke head ISA
    Inferred from Sequence Alignment
    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 6 homolog A
    Names
    radial spoke head-like protein 1
    radial spokehead-like 1

    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_001159671.2 → NP_001153143.1  radial spoke head protein 6 homolog A isoform 2

      See identical proteins and their annotated locations for NP_001153143.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) lacks an exon in the coding region compared to variant 1. The resulting protein (isoform 2) is shorter but has the identical N- and C-termini compared to isoform 1.
      Source sequence(s)
      AC170864
      Consensus CDS
      CCDS52052.1
      UniProtKB/Swiss-Prot
      Q8CDR2
      UniProtKB/TrEMBL
      Q99MM9
      Related
      ENSMUSP00000076153.6, ENSMUST00000076887.6
      Conserved Domains (1) summary
      pfam04712
      Location:289 → 426
      Radial_spoke; Radial spokehead-like protein

    2. NM_001415787.1 → NP_001402716.1  radial spoke head protein 6 homolog A isoform 3

      Status: VALIDATED

      Source sequence(s)
      AC170864

    3. NM_031255.3 → NP_112545.2  radial spoke head protein 6 homolog A isoform 1

      See identical proteins and their annotated locations for NP_112545.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      AC170864
      Consensus CDS
      CCDS20887.1
      UniProtKB/Swiss-Prot
      Q8CDR2, Q99MM8, Q99MM9
      UniProtKB/TrEMBL
      B2RQM5
      Related
      ENSMUSP00000046526.5, ENSMUST00000035521.11
      Conserved Domains (1) summary
      pfam04712
      Location:191 → 681
      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_000073.7 Reference GRCm39 C57BL/6J

      Range
      18788603..18808384
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006540443.3 → XP_006540506.1  radial spoke head protein 6 homolog A isoform X1

      Conserved Domains (1) summary
      pfam04712
      Location:194 → 630
      Radial_spoke; Radial spokehead-like protein

    2. XM_006540444.2 → XP_006540507.1  radial spoke head protein 6 homolog A isoform X2

      Conserved Domains (1) summary
      pfam04712
      Location:194 → 629
      Radial_spoke; Radial spokehead-like protein
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8CDR2.1 GenPept UniProtKB/Swiss-Prot:Q8CDR2

    Gene LinkOut

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

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