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    Ttc23 tetratricopeptide repeat domain 23 [ Mus musculus (house mouse) ]

    Gene ID: 67009, updated on 27-Nov-2024

    Summary

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    Official Symbol
    Ttc23provided by MGI
    Official Full Name
    tetratricopeptide repeat domain 23provided by MGI
    Primary source
    MGI:MGI:1914259
    See related
    Ensembl:ENSMUSG00000030555 AllianceGenome:MGI:1914259
    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
    1600012K10Rik
    Summary
    Involved in positive regulation of smoothened signaling pathway. Located in cilium. Orthologous to human TTC23 (tetratricopeptide repeat domain 23). [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Broad expression in testis adult (RPKM 6.1), limb E14.5 (RPKM 3.0) and 25 other tissues See more
    Orthologs
    human all
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    Genomic context

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    See Ttc23 in Genome Data Viewer
    Location:
    7 C; 7 37.06 cM
    Exon count:
    19
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 7 NC_000073.7 (67295180..67378370)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 7 NC_000073.6 (67645431..67728622)

    Chromosome 7 - NC_000073.7Genomic Context describing neighboring genes Neighboring gene leucine rich repeat containing 28 Neighboring gene predicted gene, 23233 Neighboring gene STARR-seq mESC enhancer starr_19098 Neighboring gene predicted gene, 32983 Neighboring gene STARR-seq mESC enhancer starr_19100 Neighboring gene STARR-seq mESC enhancer starr_19102 Neighboring gene STARR-positive B cell enhancer ABC_E550 Neighboring gene predicted gene, 34140 Neighboring gene synemin, intermediate filament protein Neighboring gene RIKEN cDNA 4833412C05 gene Neighboring gene predicted gene, 34350

    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. Effect of expression alteration in flanking genes on phenotypes of St8sia2-deficient mice. Ikegami K, et al. Sci Rep, 2019 Sep 20. PMID 31541165, Free PMC Article
    2. A CRISPR-based screen for Hedgehog signaling provides insights into ciliary function and ciliopathies. Breslow DK, et al. Nat Genet, 2018 Mar. PMID 29459677, Free PMC Article
    3. Global discovery of erythroid long noncoding RNAs reveals novel regulators of red cell maturation. Alvarez-Dominguez JR, et al. Blood, 2014 Jan 23. PMID 24200680, Free PMC Article
    4. Widespread and dynamic translational control of red blood cell development. Alvarez-Dominguez JR, et al. Blood, 2017 Feb 2. PMID 27899360, Free PMC Article
    5. 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

    See all (16) 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) 

    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

    Process Evidence Code Pubs
    involved_in positive regulation of smoothened signaling pathway IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in cilium IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    tetratricopeptide repeat protein 23
    Names
    TPR repeat protein 23

    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_001168475.1 → NP_001161947.1  tetratricopeptide repeat protein 23 isoform 2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) lacks an alternate in-frame exon compared to variant 1. The resulting isoform (2) has the same N- and C-termini but is shorter compared to isoform 1. Variants 2 and 5 both encode the same isoform (2).
      Source sequence(s)
      AC120124, AK005431, AK141754
      Consensus CDS
      CCDS52270.1
      UniProtKB/TrEMBL
      E9QKU9
      Related
      ENSMUSP00000103095.2, ENSMUST00000107471.8
      Conserved Domains (2) summary
      sd00006
      Location:138 → 165
      TPR; TPR repeat [structural motif]
      pfam13424
      Location:187 → 254
      TPR_12; Tetratricopeptide repeat

    2. NM_001168476.1 → NP_001161948.1  tetratricopeptide repeat protein 23 isoform 3

      See identical proteins and their annotated locations for NP_001161948.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR and coding sequence and lacks an alternate in-frame exon compared to variant 1. The resulting isoform (3) is shorter at the N-terminus and lacks an internal segment compared to isoform 1.
      Source sequence(s)
      AC120124, AK005431
      UniProtKB/Swiss-Prot
      Q8CHY7
      Related
      ENSMUST00000126093.8
      Conserved Domains (1) summary
      pfam13424
      Location:18 → 85
      TPR_12; Tetratricopeptide repeat

    3. NM_001168477.1 → NP_001161949.1  tetratricopeptide repeat protein 23 isoform 4

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4) differs in the 3' UTR and coding sequence compared to variant 1. The resulting isoform (4) has a shorter and distinct C-terminus compared to isoform 1.
      Source sequence(s)
      AC120124, AC158296, AK166555
      Related
      ENSMUST00000133710.8

    4. NM_001360653.1 → NP_001347582.1  tetratricopeptide repeat protein 23 isoform 2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (5) differs in the 5' UTR and lacks an alternate in-frame exon compared to variant 1. The resulting isoform (2) has the same N- and C-termini but is shorter compared to isoform 1. Variants 2 and 5 both encode the same isoform (2).
      Source sequence(s)
      AC120124, AC158296
      Consensus CDS
      CCDS52270.1
      UniProtKB/TrEMBL
      E9QKU9
      Conserved Domains (2) summary
      sd00006
      Location:138 → 165
      TPR; TPR repeat [structural motif]
      pfam13424
      Location:187 → 254
      TPR_12; Tetratricopeptide repeat

    5. NM_025905.3 → NP_080181.2  tetratricopeptide repeat protein 23 isoform 1

      See identical proteins and their annotated locations for NP_080181.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) encodes the longest isoform (1).
      Source sequence(s)
      AC120124, AC158296, AK005431, AK141754
      Consensus CDS
      CCDS21352.1
      UniProtKB/Swiss-Prot
      Q8CHY7, Q9DAY3
      Related
      ENSMUSP00000032774.9, ENSMUST00000032774.16
      Conserved Domains (2) summary
      sd00006
      Location:138 → 165
      TPR; TPR repeat [structural motif]
      pfam13424
      Location:41 → 117
      TPR_12; Tetratricopeptide repeat

    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
      67295180..67378370
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017312246.3 → XP_017167735.1  tetratricopeptide repeat protein 23 isoform X3

      Conserved Domains (2) summary
      sd00006
      Location:160 → 187
      TPR; TPR repeat [structural motif]
      pfam13424
      Location:209 → 275
      TPR_12; Tetratricopeptide repeat

    2. XM_036153371.1 → XP_036009264.1  tetratricopeptide repeat protein 23 isoform X4

      Conserved Domains (2) summary
      sd00006
      Location:138 → 165
      TPR; TPR repeat [structural motif]
      pfam13424
      Location:187 → 253
      TPR_12; Tetratricopeptide repeat

    3. XM_036153373.1 → XP_036009266.1  tetratricopeptide repeat protein 23 isoform X8

      Conserved Domains (2) summary
      sd00006
      Location:138 → 165
      TPR; TPR repeat [structural motif]
      pfam13424
      Location:187 → 254
      TPR_12; Tetratricopeptide repeat

    4. XM_030242910.2 → XP_030098770.1  tetratricopeptide repeat protein 23 isoform X4

      Conserved Domains (2) summary
      sd00006
      Location:138 → 165
      TPR; TPR repeat [structural motif]
      pfam13424
      Location:187 → 253
      TPR_12; Tetratricopeptide repeat

    5. XM_030242917.2 → XP_030098777.1  tetratricopeptide repeat protein 23 isoform X8

      Conserved Domains (2) summary
      sd00006
      Location:138 → 165
      TPR; TPR repeat [structural motif]
      pfam13424
      Location:187 → 254
      TPR_12; Tetratricopeptide repeat

    6. XM_017312248.3 → XP_017167737.1  tetratricopeptide repeat protein 23 isoform X4

      Conserved Domains (2) summary
      sd00006
      Location:138 → 165
      TPR; TPR repeat [structural motif]
      pfam13424
      Location:187 → 253
      TPR_12; Tetratricopeptide repeat

    7. XM_030242912.2 → XP_030098772.1  tetratricopeptide repeat protein 23 isoform X7

      UniProtKB/TrEMBL
      E9QKU9
      Conserved Domains (2) summary
      sd00006
      Location:138 → 165
      TPR; TPR repeat [structural motif]
      pfam13424
      Location:187 → 254
      TPR_12; Tetratricopeptide repeat

    8. XM_030242916.2 → XP_030098776.1  tetratricopeptide repeat protein 23 isoform X7

      UniProtKB/TrEMBL
      E9QKU9
      Conserved Domains (2) summary
      sd00006
      Location:138 → 165
      TPR; TPR repeat [structural motif]
      pfam13424
      Location:187 → 254
      TPR_12; Tetratricopeptide repeat

    9. XM_017312249.3 → XP_017167738.1  tetratricopeptide repeat protein 23 isoform X6

      Conserved Domains (2) summary
      sd00006
      Location:110 → 137
      TPR; TPR repeat [structural motif]
      pfam13424
      Location:159 → 225
      TPR_12; Tetratricopeptide repeat

    10. XM_030242913.2 → XP_030098773.1  tetratricopeptide repeat protein 23 isoform X7

      UniProtKB/TrEMBL
      E9QKU9
      Conserved Domains (2) summary
      sd00006
      Location:138 → 165
      TPR; TPR repeat [structural motif]
      pfam13424
      Location:187 → 254
      TPR_12; Tetratricopeptide repeat

    11. XM_030242914.2 → XP_030098774.1  tetratricopeptide repeat protein 23 isoform X7

      UniProtKB/TrEMBL
      E9QKU9
      Conserved Domains (2) summary
      sd00006
      Location:138 → 165
      TPR; TPR repeat [structural motif]
      pfam13424
      Location:187 → 254
      TPR_12; Tetratricopeptide repeat

    12. XM_017312251.3 → XP_017167740.1  tetratricopeptide repeat protein 23 isoform X9

      Conserved Domains (1) summary
      pfam13424
      Location:18 → 84
      TPR_12; Tetratricopeptide repeat

    13. XM_036153374.1 → XP_036009267.1  tetratricopeptide repeat protein 23 isoform X10

      Conserved Domains (1) summary
      pfam13424
      Location:18 → 85
      TPR_12; Tetratricopeptide repeat

    14. XM_036153370.1 → XP_036009263.1  tetratricopeptide repeat protein 23 isoform X3

      Conserved Domains (2) summary
      sd00006
      Location:160 → 187
      TPR; TPR repeat [structural motif]
      pfam13424
      Location:209 → 275
      TPR_12; Tetratricopeptide repeat

    15. XM_017312245.3 → XP_017167734.1  tetratricopeptide repeat protein 23 isoform X3

      Conserved Domains (2) summary
      sd00006
      Location:160 → 187
      TPR; TPR repeat [structural motif]
      pfam13424
      Location:209 → 275
      TPR_12; Tetratricopeptide repeat

    16. XM_036153372.1 → XP_036009265.1  tetratricopeptide repeat protein 23 isoform X4

      Conserved Domains (2) summary
      sd00006
      Location:138 → 165
      TPR; TPR repeat [structural motif]
      pfam13424
      Location:187 → 253
      TPR_12; Tetratricopeptide repeat

    17. XM_017312247.3 → XP_017167736.1  tetratricopeptide repeat protein 23 isoform X3

      Conserved Domains (2) summary
      sd00006
      Location:160 → 187
      TPR; TPR repeat [structural motif]
      pfam13424
      Location:209 → 275
      TPR_12; Tetratricopeptide repeat

    18. XM_030242911.1 → XP_030098771.1  tetratricopeptide repeat protein 23 isoform X4

      Conserved Domains (2) summary
      sd00006
      Location:138 → 165
      TPR; TPR repeat [structural motif]
      pfam13424
      Location:187 → 253
      TPR_12; Tetratricopeptide repeat

    19. XM_030242915.1 → XP_030098775.1  tetratricopeptide repeat protein 23 isoform X7

      UniProtKB/TrEMBL
      E9QKU9
      Conserved Domains (2) summary
      sd00006
      Location:138 → 165
      TPR; TPR repeat [structural motif]
      pfam13424
      Location:187 → 254
      TPR_12; Tetratricopeptide repeat

    20. XM_017312252.2 → XP_017167741.1  tetratricopeptide repeat protein 23 isoform X9

      Conserved Domains (1) summary
      pfam13424
      Location:18 → 84
      TPR_12; Tetratricopeptide repeat

    21. XM_017312241.3 → XP_017167730.1  tetratricopeptide repeat protein 23 isoform X1

      Conserved Domains (2) summary
      sd00006
      Location:184 → 211
      TPR; TPR repeat [structural motif]
      pfam13424
      Location:233 → 299
      TPR_12; Tetratricopeptide repeat

    22. XM_017312242.3 → XP_017167731.1  tetratricopeptide repeat protein 23 isoform X2

      Conserved Domains (2) summary
      sd00006
      Location:162 → 189
      TPR; TPR repeat [structural motif]
      pfam13424
      Location:211 → 277
      TPR_12; Tetratricopeptide repeat

    23. XM_017312253.3 → XP_017167742.1  tetratricopeptide repeat protein 23 isoform X11

      Conserved Domains (2) summary
      sd00006
      Location:162 → 189
      TPR; TPR repeat [structural motif]
      pfam13424
      Location:211 → 277
      TPR_12; Tetratricopeptide repeat

    24. XM_006541109.5 → XP_006541172.1  tetratricopeptide repeat protein 23 isoform X5

      Conserved Domains (2) summary
      sd00006
      Location:162 → 189
      TPR; TPR repeat [structural motif]
      pfam13424
      Location:211 → 278
      TPR_12; Tetratricopeptide repeat
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8CHY7.1 GenPept UniProtKB/Swiss-Prot:Q8CHY7

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