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

Gene ID: 64927, updated on 7-Apr-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, Apr 2022]
Expression
Ubiquitous expression in testis (RPKM 4.9), ovary (RPKM 4.2) and 24 other tissues See more
Orthologs
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Genomic context

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Location:
15q26.3
Exon count:
23
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 15 NC_000015.10 (99136323..99251225, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 15 NC_060939.1 (96899949..97014999, complement)
105.20220307 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
  • 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. 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
  4. 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
  5. Development and application of a DNA microarray-based yeast two-hybrid system. Suter B, et al. Nucleic Acids Res, 2013 Feb 1. PMID 23275563, Free PMC Article

See all (20) 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_2023_10

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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