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

Gene ID: 67009, updated on 5-Mar-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, Apr 2022]
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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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 cell projection IEA
Inferred from Electronic Annotation
more info
  
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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