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    Ttc21a tetratricopeptide repeat domain 21A [ Mus musculus (house mouse) ]

    Gene ID: 74052, updated on 9-Dec-2024

    Summary

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    Official Symbol
    Ttc21aprovided by MGI
    Official Full Name
    tetratricopeptide repeat domain 21Aprovided by MGI
    Primary source
    MGI:MGI:1921302
    See related
    Ensembl:ENSMUSG00000032514 AllianceGenome:MGI:1921302
    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
    Thm2; 4921538N17Rik
    Summary
    Involved in flagellated sperm motility and spermatid development. Predicted to be part of intraciliary transport particle A. Is expressed in 4th ventricle; choroid plexus; lateral ventricle choroid plexus; and olfactory epithelium. Human ortholog(s) of this gene implicated in spermatogenic failure 37. Orthologous to human TTC21A (tetratricopeptide repeat domain 21A). [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Biased expression in testis adult (RPKM 28.9), lung adult (RPKM 4.7) and 1 other tissue See more
    Orthologs
    human all
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    Genomic context

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    See Ttc21a in Genome Data Viewer
    Location:
    9 F4; 9 71.33 cM
    Exon count:
    29
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 9 NC_000075.7 (119766656..119798496)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 9 NC_000075.6 (119937589..119969430)

    Chromosome 9 - NC_000075.7Genomic Context describing neighboring genes Neighboring gene CapStarr-seq enhancer MGSCv37_chr9:119803875-119804062 Neighboring gene predicted gene 2449 Neighboring gene WD repeat domain 48 Neighboring gene golgi reassembly stacking protein 1 Neighboring gene CapStarr-seq enhancer MGSCv37_chr9:119887435-119887544 Neighboring gene CapStarr-seq enhancer MGSCv37_chr9:119888013-119888122 Neighboring gene cysteine-serine-rich nuclear protein 1 Neighboring gene STARR-positive B cell enhancer ABC_E6811 Neighboring gene STARR-positive B cell enhancer ABC_E2922 Neighboring gene STARR-positive B cell enhancer ABC_E3866 Neighboring gene predicted gene, 33800 Neighboring gene STARR-seq mESC enhancer starr_25485 Neighboring gene STARR-seq mESC enhancer starr_25486 Neighboring gene STARR-positive B cell enhancer ABC_E9780

    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. Genetic Interaction of Thm2 and Thm1 Shapes Postnatal Craniofacial Bone. Bumann EE, et al. J Dev Biol, 2022 May 11. PMID 35645293, Free PMC Article
    2. Thm2 interacts with paralog, Thm1, and sensitizes to Hedgehog signaling in postnatal skeletogenesis. Allard BA, et al. Cell Mol Life Sci, 2021 Apr. PMID 33683377, Free PMC Article
    3. Genetic interaction of mammalian IFT-A paralogs regulates cilia disassembly, ciliary entry of membrane protein, Hedgehog signaling, and embryogenesis. Wang W, et al. FASEB J, 2020 May. PMID 32167205, Free PMC Article
    4. Bi-allelic Mutations in TTC21A Induce Asthenoteratospermia in Humans and Mice. Liu W, et al. Am J Hum Genet, 2019 Apr 4. PMID 30929735, Free PMC Article
    5. THM1 negatively modulates mouse sonic hedgehog signal transduction and affects retrograde intraflagellar transport in cilia. Tran PV, et al. Nat Genet, 2008 Apr. PMID 18327258, Free PMC Article

    See all (22) 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 (2)  1 citation
    • Targeted (2) 

    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 molecular_function ND
    No biological Data available
    more info
    		  
    Process Evidence Code Pubs
    involved_in flagellated sperm motility IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in flagellated sperm motility ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in intraciliary retrograde transport IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in protein localization to cilium IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in spermatid development IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in spermatid development ISO
    Inferred from Sequence Orthology
    more info
    		  
    Component Evidence Code Pubs
    part_of intraciliary transport particle A IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    tetratricopeptide repeat protein 21A
    Names
    TPR repeat protein 21A
    tetratricopeptide repeat-containing hedgehog modulator 2

    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_028735.3 → NP_083011.2  tetratricopeptide repeat protein 21A

      See identical proteins and their annotated locations for NP_083011.2

      Status: VALIDATED

      Source sequence(s)
      AC124662, AK029952, BC133699
      Consensus CDS
      CCDS40805.1
      UniProtKB/Swiss-Prot
      Q0HA37, Q3V0A2, Q8C0S4, Q9D5Q9
      Related
      ENSMUSP00000035100.6, ENSMUST00000035100.6
      Conserved Domains (4) summary
      TIGR02917
      Location:209 → 1048
      PEP_TPR_lipo; putative PEP-CTERM system TPR-repeat lipoprotein
      sd00006
      Location:495 → 522
      TPR; TPR repeat [structural motif]
      pfam13414
      Location:1198 → 1259
      TPR_11; TPR repeat
      cl21457
      Location:50 → 106
      TIM_phosphate_binding; TIM barrel proteins share a structurally conserved phosphate binding motif and in general share an eight beta/alpha closed barrel structure. Specific for this family is the conserved phosphate binding site at the edges of strands 7 and 8. The phosphate ...

    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
      119766656..119798496
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006512321.3 → XP_006512384.1  tetratricopeptide repeat protein 21A isoform X1

      Conserved Domains (2) summary
      TIGR02917
      Location:209 → 1048
      PEP_TPR_lipo; putative PEP-CTERM system TPR-repeat lipoprotein
      sd00006
      Location:495 → 522
      TPR; TPR repeat [structural motif]

    2. XM_036155346.1 → XP_036011239.1  tetratricopeptide repeat protein 21A isoform X2

      Related
      ENSMUST00000159128.8
      Conserved Domains (3) summary
      TIGR02917
      Location:209 → 1048
      PEP_TPR_lipo; putative PEP-CTERM system TPR-repeat lipoprotein
      sd00006
      Location:495 → 522
      TPR; TPR repeat [structural motif]
      cl21457
      Location:50 → 106
      TIM; TIM-like beta/alpha barrel domains

    3. XM_036155347.1 → XP_036011240.1  tetratricopeptide repeat protein 21A isoform X3

      Conserved Domains (2) summary
      TIGR02917
      Location:55 → 617
      PEP_TPR_lipo; putative PEP-CTERM system TPR-repeat lipoprotein
      sd00006
      Location:64 → 91
      TPR; TPR repeat [structural motif]
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8C0S4.2 GenPept UniProtKB/Swiss-Prot:Q8C0S4

    Gene LinkOut

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