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    TTC23 tetratricopeptide repeat domain 23 [ Homo sapiens (human) ]

    Gene ID: 64927, updated on 28-Oct-2024

    Summary

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    Official Symbol
    TTC23provided by HGNC
    Official Full Name
    tetratricopeptide repeat domain 23provided by HGNC
    Primary source
    HGNC:HGNC:25730
    See related
    Ensembl:ENSG00000103852 AllianceGenome:HGNC:25730
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    HCC-8
    Summary
    Predicted to be involved in positive regulation of smoothened signaling pathway. Predicted to be located in cilium. [provided by Alliance of Genome Resources, Oct 2024]
    Expression
    Ubiquitous expression in testis (RPKM 4.9), ovary (RPKM 4.2) and 24 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See TTC23 in Genome Data Viewer
    Location:
    15q26.3
    Exon count:
    23
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 15 NC_000015.10 (99136323..99251225, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 15 NC_060939.1 (96899949..97014999, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 15 NC_000015.9 (99676528..99791430, complement)

    Chromosome 15 - NC_000015.10Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10146 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6859 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:99558507-99559282 Neighboring gene leukemia-associated non-coding IGF1R activator RNA 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:99601057-99601658 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:99601659-99602258 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6862 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6863 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10148 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10149 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:99640383-99641189 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6864 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6865 Neighboring gene SYNM antisense RNA 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:99676969-99677470 Neighboring gene synemin Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr15:99694074-99694869 Neighboring gene TTC23 antisense RNA 1 Neighboring gene MPRA-validated peak2445 silencer Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:99754475-99754975 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr15:99758119-99759318 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10150 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6866 Neighboring gene heat shock protein 90 beta family member 2, pseudogene Neighboring gene leucine rich repeat containing 28 Neighboring gene heterogeneous nuclear ribonucleoprotein A1 pseudogene 62

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. The morbid genome of ciliopathies: an update. Shamseldin HE, et al. Genet Med, 2020 Jun. PMID 32055034
    2. Genome-wide pleiotropy of osteoporosis-related phenotypes: the Framingham Study. Karasik D, et al. J Bone Miner Res, 2010 Jul. PMID 20200953, Free PMC Article
    3. Network-based prediction of protein interactions. Kovács IA, et al. Nat Commun, 2019 Mar 18. PMID 30886144, Free PMC Article
    4. The BTB and CNC homology 1 (BACH1) target genes are involved in the oxidative stress response and in control of the cell cycle. Warnatz HJ, et al. J Biol Chem, 2011 Jul 1. PMID 21555518, Free PMC Article
    5. Regulation of ETAA1-mediated ATR activation couples DNA replication fidelity and genome stability. Achuthankutty D, et al. J Cell Biol, 2019 Dec 2. PMID 31615875, Free PMC Article

    See all (23) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. TTC23 is a functional target gene of the BACH1 transcription factor according to ChIP-seq and knockdown analysis in HEK 293 cells.
      Title: The BTB and CNC homology 1 (BACH1) target genes are involved in the oxidative stress response and in control of the cell cycle.
    2. Observational study and genome-wide association study of gene-disease association. (HuGE Navigator)
      Title: Genome-wide pleiotropy of osteoporosis-related phenotypes: the Framingham Study.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ12572, FLJ12939

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in positive regulation of smoothened signaling pathway ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    Component Evidence Code Pubs
    located_in cilium ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  

    General protein information

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    Preferred Names
    tetratricopeptide repeat protein 23
    Names
    TPR repeat protein 23
    cervical cancer proto-oncogene 8 protein

    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_001288615.3 → NP_001275544.1  tetratricopeptide repeat protein 23

      See identical proteins and their annotated locations for NP_001275544.1

      Status: VALIDATED

      Source sequence(s)
      AC022819, AF411456, BC015728, DA448674, DB014606
      Consensus CDS
      CCDS10379.2
      UniProtKB/Swiss-Prot
      A8K6M5, Q53HK0, Q5W5X9, Q96BC9, Q9H8W9, Q9H9S7
      Related
      ENSP00000377690.2, ENST00000394132.7
      Conserved Domains (2) summary
      sd00006
      Location:137 → 165
      TPR; TPR repeat [structural motif]
      pfam13424
      Location:314 → 385
      TPR_12; Tetratricopeptide repeat

    2. NM_001288616.3 → NP_001275545.1  tetratricopeptide repeat protein 23

      See identical proteins and their annotated locations for NP_001275545.1

      Status: VALIDATED

      Source sequence(s)
      AK291690, BC015728, DA448674, DA681018
      Consensus CDS
      CCDS10379.2
      UniProtKB/Swiss-Prot
      A8K6M5, Q53HK0, Q5W5X9, Q96BC9, Q9H8W9, Q9H9S7
      Related
      ENSP00000452923.1, ENST00000558663.5
      Conserved Domains (2) summary
      sd00006
      Location:137 → 165
      TPR; TPR repeat [structural motif]
      pfam13424
      Location:314 → 385
      TPR_12; Tetratricopeptide repeat

    3. NM_001353869.2 → NP_001340798.1  tetratricopeptide repeat protein 23

      Status: VALIDATED

      Source sequence(s)
      AC022819, AC036108, BC015728
      Consensus CDS
      CCDS10379.2
      UniProtKB/Swiss-Prot
      A8K6M5, Q53HK0, Q5W5X9, Q96BC9, Q9H8W9, Q9H9S7
      Related
      ENSP00000457901.1, ENST00000394129.6
      Conserved Domains (2) summary
      sd00006
      Location:137 → 165
      TPR; TPR repeat [structural motif]
      pfam13424
      Location:314 → 385
      TPR_12; Tetratricopeptide repeat

    RNA

    1. NR_109947.3 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC022819, BC015728, DA230337, DB014606
      Related
      ENST00000459771.5

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000015.10 Reference GRCh38.p14 Primary Assembly

      Range
      99136323..99251225 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011521936.2 → XP_011520238.1  tetratricopeptide repeat protein 23 isoform X3

      See identical proteins and their annotated locations for XP_011520238.1

      Conserved Domains (2) summary
      COG0457
      Location:97 → 383
      TPR; Tetratricopeptide (TPR) repeat [General function prediction only]
      sd00006
      Location:137 → 165
      TPR; TPR repeat [structural motif]

    2. XM_047432954.1 → XP_047288910.1  tetratricopeptide repeat protein 23 isoform X3

    3. XM_017022518.2 → XP_016878007.1  tetratricopeptide repeat protein 23 isoform X6

      UniProtKB/Swiss-Prot
      A8K6M5, Q53HK0, Q5W5X9, Q96BC9, Q9H8W9, Q9H9S7
      Conserved Domains (2) summary
      sd00006
      Location:137 → 165
      TPR; TPR repeat [structural motif]
      pfam13424
      Location:314 → 385
      TPR_12; Tetratricopeptide repeat

    4. XM_011521939.2 → XP_011520241.1  tetratricopeptide repeat protein 23 isoform X3

      See identical proteins and their annotated locations for XP_011520241.1

      Conserved Domains (2) summary
      COG0457
      Location:97 → 383
      TPR; Tetratricopeptide (TPR) repeat [General function prediction only]
      sd00006
      Location:137 → 165
      TPR; TPR repeat [structural motif]

    5. XM_047432953.1 → XP_047288909.1  tetratricopeptide repeat protein 23 isoform X1

    6. XM_011521935.2 → XP_011520237.1  tetratricopeptide repeat protein 23 isoform X3

      See identical proteins and their annotated locations for XP_011520237.1

      Conserved Domains (2) summary
      COG0457
      Location:97 → 383
      TPR; Tetratricopeptide (TPR) repeat [General function prediction only]
      sd00006
      Location:137 → 165
      TPR; TPR repeat [structural motif]

    7. XM_047432956.1 → XP_047288912.1  tetratricopeptide repeat protein 23 isoform X5

    8. XM_047432955.1 → XP_047288911.1  tetratricopeptide repeat protein 23 isoform X4

    9. XM_047432952.1 → XP_047288908.1  tetratricopeptide repeat protein 23 isoform X1

    10. XM_011521927.3 → XP_011520229.2  tetratricopeptide repeat protein 23 isoform X2

    11. XM_024450028.2 → XP_024305796.1  tetratricopeptide repeat protein 23 isoform X3

      Conserved Domains (2) summary
      COG0457
      Location:97 → 383
      TPR; Tetratricopeptide (TPR) repeat [General function prediction only]
      sd00006
      Location:137 → 165
      TPR; TPR repeat [structural motif]

    12. XM_047432962.1 → XP_047288918.1  tetratricopeptide repeat protein 23 isoform X12

    13. XM_047432961.1 → XP_047288917.1  tetratricopeptide repeat protein 23 isoform X11

    14. XM_047432960.1 → XP_047288916.1  tetratricopeptide repeat protein 23 isoform X10

    15. XM_047432957.1 → XP_047288913.1  tetratricopeptide repeat protein 23 isoform X7

    16. XM_047432959.1 → XP_047288915.1  tetratricopeptide repeat protein 23 isoform X9

    17. XM_047432958.1 → XP_047288914.1  tetratricopeptide repeat protein 23 isoform X8

    RNA

    1. XR_007064487.1 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060939.1 Alternate T2T-CHM13v2.0

      Range
      96899949..97014999 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054378641.1 → XP_054234616.1  tetratricopeptide repeat protein 23 isoform X3

    2. XM_054378639.1 → XP_054234614.1  tetratricopeptide repeat protein 23 isoform X3

    3. XM_054378645.1 → XP_054234620.1  tetratricopeptide repeat protein 23 isoform X6

      UniProtKB/Swiss-Prot
      A8K6M5, Q53HK0, Q5W5X9, Q96BC9, Q9H8W9, Q9H9S7

    4. XM_054378638.1 → XP_054234613.1  tetratricopeptide repeat protein 23 isoform X3

    5. XM_054378636.1 → XP_054234611.1  tetratricopeptide repeat protein 23 isoform X1

    6. XM_054378640.1 → XP_054234615.1  tetratricopeptide repeat protein 23 isoform X3

    7. XM_054378644.1 → XP_054234619.1  tetratricopeptide repeat protein 23 isoform X5

    8. XM_054378643.1 → XP_054234618.1  tetratricopeptide repeat protein 23 isoform X4

    9. XM_054378635.1 → XP_054234610.1  tetratricopeptide repeat protein 23 isoform X1

    10. XM_054378637.1 → XP_054234612.1  tetratricopeptide repeat protein 23 isoform X2

    11. XM_054378642.1 → XP_054234617.1  tetratricopeptide repeat protein 23 isoform X3

    12. XM_054378651.1 → XP_054234626.1  tetratricopeptide repeat protein 23 isoform X12

    13. XM_054378650.1 → XP_054234625.1  tetratricopeptide repeat protein 23 isoform X11

    14. XM_054378649.1 → XP_054234624.1  tetratricopeptide repeat protein 23 isoform X10

    15. XM_054378646.1 → XP_054234621.1  tetratricopeptide repeat protein 23 isoform X7

    16. XM_054378648.1 → XP_054234623.1  tetratricopeptide repeat protein 23 isoform X9

    17. XM_054378647.1 → XP_054234622.1  tetratricopeptide repeat protein 23 isoform X8

    RNA

    1. XR_008489008.1 RNA Sequence

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_001040655.1: Suppressed sequence

      Description
      NM_001040655.1: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript.

    2. NM_001040656.1: Suppressed sequence

      Description
      NM_001040656.1: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript.

    3. NM_001040657.1: Suppressed sequence

      Description
      NM_001040657.1: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript.

    4. NM_001040658.1: Suppressed sequence

      Description
      NM_001040658.1: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript.

    5. NM_001040659.1: Suppressed sequence

      Description
      NM_001040659.1: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript.

    6. NM_001040660.1: Suppressed sequence

      Description
      NM_001040660.1: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript.

    7. NM_022905.4: Suppressed sequence

      Description
      NM_022905.4: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript.
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q5W5X9.1 GenPept UniProtKB/Swiss-Prot:Q5W5X9

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