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    Ttc12 tetratricopeptide repeat domain 12 [ Mus musculus (house mouse) ]

    Gene ID: 235330, updated on 5-Mar-2024

    Summary

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    Official Symbol
    Ttc12provided by MGI
    Official Full Name
    tetratricopeptide repeat domain 12provided by MGI
    Primary source
    MGI:MGI:2444588
    See related
    Ensembl:ENSMUSG00000040219 AllianceGenome:MGI:2444588
    Gene type
    protein coding
    RefSeq status
    PROVISIONAL
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    E330017O07Rik
    Summary
    Predicted to be involved in axonemal dynein complex assembly and sperm axoneme assembly. Predicted to act upstream of or within cell projection organization. Predicted to be located in centrosome and cytoplasm. Is expressed in brain ventricle and brain ventricular layer. Human ortholog(s) of this gene implicated in primary ciliary dyskinesia 45. Orthologous to human TTC12 (tetratricopeptide repeat domain 12). [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Biased expression in testis adult (RPKM 10.4), heart adult (RPKM 3.7) and 12 other tissues See more
    Orthologs
    human all
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    Genomic context

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    Location:
    9 A5.3; 9 26.83 cM
    Exon count:
    22
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 9 NC_000075.7 (49348261..49397572, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 9 NC_000075.6 (49436961..49486275, complement)

    Chromosome 9 - NC_000075.7Genomic Context describing neighboring genes Neighboring gene dopamine receptor D2 Neighboring gene predicted gene, 46111 Neighboring gene ankyrin repeat and kinase domain containing 1 Neighboring gene STARR-seq mESC enhancer starr_24092 Neighboring gene CapStarr-seq enhancer MGSCv37_chr9:49297299-49297500 Neighboring gene CapStarr-seq enhancer MGSCv37_chr9:49297697-49297806 Neighboring gene neural cell adhesion molecule 1 Neighboring gene predicted gene 11149 Neighboring gene STARR-seq mESC enhancer starr_24096 Neighboring gene STARR-seq mESC enhancer starr_24097 Neighboring gene predicted gene, 25633

    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. Transcriptional program of ciliated epithelial cells reveals new cilium and centrosome components and links to human disease. Hoh RA, et al. PLoS One, 2012. PMID 23300604, Free PMC Article
    2. Database resources of the National Center for Biotechnology Information. Wheeler DL, et al. Nucleic Acids Res, 2001 Jan 1. PMID 11125038, Free PMC Article
    3. Libraries enriched for alternatively spliced exons reveal splicing patterns in melanocytes and melanomas. Watahiki A, et al. Nat Methods, 2004 Dec. PMID 15782199
    4. 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
    5. A high-resolution anatomical atlas of the transcriptome in the mouse embryo. Diez-Roux G, et al. PLoS Biol, 2011 Jan 18. PMID 21267068, 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)
    • Endonuclease-mediated (1) 

    General gene information

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    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 axonemal dynein complex assembly IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in axonemal dynein complex 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 sperm axoneme assembly IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in sperm axoneme assembly ISO
    Inferred from Sequence Orthology
    more info
    		  
    Component Evidence Code Pubs
    is_active_in centrosome IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in centrosome ISO
    Inferred from Sequence Orthology
    more info
    		 PubMed 
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in cytoplasm ISO
    Inferred from Sequence Orthology
    more info
    		  

    General protein information

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    Preferred Names
    tetratricopeptide repeat protein 12
    Names
    TPR repeat protein 12

    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_172770.3 → NP_766358.1  tetratricopeptide repeat protein 12

      See identical proteins and their annotated locations for NP_766358.1

      Status: PROVISIONAL

      Source sequence(s)
      AC117630, AC167980
      Consensus CDS
      CCDS23163.1
      UniProtKB/Swiss-Prot
      Q8BW49
      Related
      ENSMUSP00000056378.5, ENSMUST00000055096.5
      Conserved Domains (2) summary
      PLN03088
      Location:104 → 254
      PLN03088; SGT1, suppressor of G2 allele of SKP1; Provisional
      sd00006
      Location:105 → 133
      TPR; TPR repeat [structural motif]

    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_000075.7 Reference GRCm39 C57BL/6J

      Range
      49348261..49397572 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_030244325.2 → XP_030100185.1  tetratricopeptide repeat protein 12 isoform X2

      Conserved Domains (2) summary
      PLN03088
      Location:79 → 248
      PLN03088; SGT1, suppressor of G2 allele of SKP1; Provisional
      sd00006
      Location:80 → 108
      TPR; TPR repeat [structural motif]

    2. XM_011242510.3 → XP_011240812.1  tetratricopeptide repeat protein 12 isoform X1

      Conserved Domains (2) summary
      TIGR00990
      Location:34 → 175
      3a0801s09; mitochondrial precursor proteins import receptor (72 kDa mitochondrial outermembrane protein) (mitochondrial import receptor for the ADP/ATP carrier) (translocase of outermembrane tom70)
      sd00006
      Location:105 → 133
      TPR; TPR repeat [structural motif]

    3. XM_011242511.1 → XP_011240813.1  tetratricopeptide repeat protein 12 isoform X3

      Conserved Domains (2) summary
      PLN03088
      Location:104 → 273
      PLN03088; SGT1, suppressor of G2 allele of SKP1; Provisional
      sd00006
      Location:105 → 133
      TPR; TPR repeat [structural motif]

    RNA

    1. XR_003947876.1 RNA Sequence

    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8BW49.1 GenPept UniProtKB/Swiss-Prot:Q8BW49

    Gene LinkOut

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

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