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    Rttn rotatin [ Mus musculus (house mouse) ]

    Gene ID: 246102, updated on 9-Dec-2024

    Summary

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    Official Symbol
    Rttnprovided by MGI
    Official Full Name
    rotatinprovided by MGI
    Primary source
    MGI:MGI:2179288
    See related
    Ensembl:ENSMUSG00000023066 AllianceGenome:MGI:2179288
    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
    D230040K24; 4921538A15Rik; C530033I08Rik
    Summary
    Acts upstream of or within determination of left/right symmetry. Predicted to be located in centrosome and membrane. Predicted to be active in centriole and ciliary basal body. Is expressed in several structures, including branchial arch; embryo mesoderm; extraembryonic component; forelimb bud; and neural ectoderm. Orthologous to human RTTN (rotatin). [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Ubiquitous expression in limb E14.5 (RPKM 2.5), CNS E11.5 (RPKM 2.4) and 24 other tissues See more
    Orthologs
    human all
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    Genomic context

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    See Rttn in Genome Data Viewer
    Location:
    18 E4; 18 58.93 cM
    Exon count:
    53
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 18 NC_000084.7 (88989860..89149140)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 18 NC_000084.6 (88971736..89131014)

    Chromosome 18 - NC_000084.7Genomic Context describing neighboring genes Neighboring gene STARR-seq mESC enhancer starr_45301 Neighboring gene high mobility group box 1-like pseudogene Neighboring gene suppressor of cytokine signaling 6 Neighboring gene STARR-positive B cell enhancer mm9_chr18:89141017-89141318 Neighboring gene microRNA 6359 Neighboring gene CD226 antigen Neighboring gene CapStarr-seq enhancer MGSCv37_chr18:89509927-89510110 Neighboring gene docking protein 6 Neighboring gene predicted gene, 18279

    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. Gene trap expression and mutational analysis for genes involved in the development of the mammalian nervous system. Stoykova A, et al. Dev Dyn, 1998 Jun. PMID 9626495
    2. Nt mutation causing laterality defects associated with deletion of rotatin. Chatterjee B, et al. Mamm Genome, 2007 May. PMID 17551791
    3. Rotatin is a novel gene required for axial rotation and left-right specification in mouse embryos. Faisst AM, et al. Mech Dev, 2002 Apr. PMID 11900971
    4. BayGenomics: a resource of insertional mutations in mouse embryonic stem cells. Stryke D, et al. Nucleic Acids Res, 2003 Jan 1. PMID 12520002, Free PMC Article
    5. Genetic determinants of micronucleus formation in vivo. Adams DJ, et al. Nature, 2024 Mar. PMID 38355793, Free PMC Article

    See all (15) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. No turning (nt), a recessive lethal mutation causing left-right and axial patterning defects is likely elicited by deficiency of Rttn on chromosome 18.
      Title: Nt mutation causing laterality defects associated with deletion of rotatin.
    2. cloning and characterization of rotatin
      Title: Rotatin is a novel gene required for axial rotation and left-right specification in mouse embryos.
    Submit: New GeneRIF Correction

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Endonuclease-mediated (1) 
    • Gene trapped (1)  1 citation
    • Transgenic (1) 

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables molecular_function ND
    No biological Data available
    more info
    		  
    Process Evidence Code Pubs
    involved_in centriole replication IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in centriole-centriole cohesion IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in ciliary basal body organization IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in cilium organization IEA
    Inferred from Electronic Annotation
    more info
    		  
    acts_upstream_of_or_within determination of left/right symmetry IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    is_active_in centriole IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in centriole ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in centriole ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in centrosome ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in centrosome ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    is_active_in ciliary basal body IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in ciliary basal body ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in ciliary basal body ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in cytoplasm IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    rotatin

    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_175542.3 → NP_780751.2  rotatin

      See identical proteins and their annotated locations for NP_780751.2

      Status: VALIDATED

      Source sequence(s)
      AF265232, BC023916
      Consensus CDS
      CCDS29390.1
      UniProtKB/Swiss-Prot
      A0PJL2, Q8BPW5, Q8C461, Q8CCK5, Q8CIG4, Q8R4Y8
      Related
      ENSMUSP00000023828.8, ENSMUST00000023828.9
      Conserved Domains (1) summary
      pfam14726
      Location:16 → 112
      RTTN_N; Rotatin, an armadillo repeat protein, centriole functioning

    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_000084.7 Reference GRCm39 C57BL/6J

      Range
      88989860..89149140
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_036161149.1 → XP_036017042.1  rotatin isoform X3

      Conserved Domains (1) summary
      pfam14726
      Location:16 → 112
      RTTN_N; Rotatin, an armadillo repeat protein, centriole functioning

    2. XM_030250463.2 → XP_030106323.1  rotatin isoform X1

    3. XM_011247080.4 → XP_011245382.1  rotatin isoform X2

    4. XM_036161150.1 → XP_036017043.1  rotatin isoform X4

    RNA

    1. XR_386368.3 RNA Sequence

    2. XR_001782364.1 RNA Sequence

    3. XR_001782365.2 RNA Sequence

    4. XR_386369.5 RNA Sequence

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_178063.2: Suppressed sequence

      Description
      NM_178063.2: This RefSeq record was removed by NCBI staff. Contact [email protected] for further information.

    2. NM_178064.2: Suppressed sequence

      Description
      NM_178064.2: This RefSeq record was removed by NCBI staff. Contact [email protected] for further information.
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8R4Y8.2 GenPept UniProtKB/Swiss-Prot:Q8R4Y8

    Gene LinkOut

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

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