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Rttn rotatin [ Mus musculus (house mouse) ]

Gene ID: 246102, updated on 5-Mar-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 integral component of 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, Apr 2022]
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. A conditional knockout resource for the genome-wide study of mouse gene function. Skarnes WC, et al. Nature, 2011 Jun 15. PMID 21677750, Free PMC Article

See all (14) 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)
  • Transgenic (1) 
  • Gene trapped (1)  1 citation
  • Endonuclease-mediated (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 
acts_upstream_of_or_within multicellular organism development IEA
Inferred from Electronic Annotation
more info
  
Component Evidence Code Pubs
located_in cell projection IEA
Inferred from Electronic Annotation
more info
  
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 centrosome ISO
Inferred from Sequence Orthology
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 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 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 info@ncbi.nlm.nih.gov for further information.

  2. NM_178064.2: Suppressed sequence

    Description
    NM_178064.2: This RefSeq record was removed by NCBI staff. Contact info@ncbi.nlm.nih.gov 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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