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    CTC1 CST telomere replication complex component 1 [ Homo sapiens (human) ]

    Gene ID: 80169, updated on 14-Nov-2024

    Summary

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    Official Symbol
    CTC1provided by HGNC
    Official Full Name
    CST telomere replication complex component 1provided by HGNC
    Primary source
    HGNC:HGNC:26169
    See related
    Ensembl:ENSG00000178971 MIM:613129; AllianceGenome:HGNC:26169
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    CRMCC; AAF132; AAF-132; C17orf68; tmp494178
    Summary
    This gene encodes a component of the CST complex. This complex plays an essential role in protecting telomeres from degradation. This protein also forms a heterodimer with the CST complex subunit STN1 to form the enzyme alpha accessory factor. This enzyme regulates DNA replication. Mutations in this gene are the cause of cerebroretinal microangiopathy with calcifications and cysts. Alternate splicing results in both coding and non-coding variants. [provided by RefSeq, Mar 2012]
    Expression
    Ubiquitous expression in lymph node (RPKM 10.4), spleen (RPKM 9.8) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See CTC1 in Genome Data Viewer
    Location:
    17p13.1
    Exon count:
    23
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (8224815..8248056, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (8131045..8154277, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (8128133..8151374, complement)

    Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8176 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11687 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8177 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:8126237-8126978 Neighboring gene tRNA-Asp (anticodon GTC) 2-11 Neighboring gene long intergenic non-protein coding RNA 324 Neighboring gene tRNA-Pro (anticodon CGG) 1-3 Neighboring gene tRNA-Thr (anticodon AGT) 1-2 Neighboring gene tRNA-Ser (anticodon AGA) 2-6 Neighboring gene tRNA-Ile (anticodon AAT) 4-1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11690 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8178 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11691 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:8152035-8152791 Neighboring gene phosphoribosylformylglycinamidine synthase Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:8187618-8188118 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:8188119-8188619 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11692 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11693 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8179 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11694 Neighboring gene solute carrier family 25 member 35 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11695 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11696 Neighboring gene RAN guanine nucleotide release factor Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11697 Neighboring gene uncharacterized LOC124903915 Neighboring gene uncharacterized LOC124903914 Neighboring gene CRISPRi-validated cis-regulatory element chr17.641

    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. A novel mutation of CTC1 leads to telomere shortening in a chinese family with interstitial lung disease. Liu L, et al. Hereditas, 2023 Nov 18. PMID 37978541, Free PMC Article
    2. CTC1 mutations in a Brazilian family with progeroid features and recurrent bone fractures. Sargolzaeiaval F, et al. Mol Genet Genomic Med, 2018 Nov. PMID 30393977, Free PMC Article
    3. Molecular basis of telomere syndrome caused by CTC1 mutations. Chen LY, et al. Genes Dev, 2013 Oct 1. PMID 24115768, Free PMC Article
    4. Functional characterization of human CTC1 mutations reveals novel mechanisms responsible for the pathogenesis of the telomere disease Coats plus. Gu P, et al. Aging Cell, 2013 Dec. PMID 23869908, Free PMC Article
    5. Cerebro-retinal microangiopathy with calcifications and cysts due to recessive mutations in the CTC1 gene. Bisserbe A, et al. Rev Neurol (Paris), 2015 May. PMID 25843205

    See all (66) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. CST-polymerase alpha-primase solves a second telomere end-replication problem.
      Title: CST-polymerase α-primase solves a second telomere end-replication problem.
    2. A novel mutation of CTC1 leads to telomere shortening in a chinese family with interstitial lung disease.
      Title: A novel mutation of CTC1 leads to telomere shortening in a chinese family with interstitial lung disease.
    3. CTC1 OB-B interaction with TPP1 terminates telomerase and prevents telomere overextension.
      Title: CTC1 OB-B interaction with TPP1 terminates telomerase and prevents telomere overextension.
    4. Reconstitution of a telomeric replicon organized by CST.
      Title: Reconstitution of a telomeric replicon organized by CST.
    5. Structures of the human CST-Polalpha-primase complex bound to telomere templates.
      Title: Structures of the human CST-Polα-primase complex bound to telomere templates.
    6. Pan-cancer analysis reveals that CTC1-STN1-TEN1 (CST) complex may have a key position in oncology.
      Title: Pan-cancer analysis reveals that CTC1-STN1-TEN1 (CST) complex may have a key position in oncology.
    7. Primary Ovarian Failure in Addition to Classical Clinical Features of Coats Plus Syndrome in a Female Carrying 2 Truncating Variants of CTC1.
      Title: Primary Ovarian Failure in Addition to Classical Clinical Features of Coats Plus Syndrome in a Female Carrying 2 Truncating Variants of CTC1.
    8. The DNA-binding protein CST associates with the cohesin complex and promotes chromosome cohesion.
      Title: The DNA-binding protein CST associates with the cohesin complex and promotes chromosome cohesion.
    9. Human CTC1 promotes TopBP1 stability and CHK1 phosphorylation in response to telomere dysfunction and global replication stress.
      Title: Human CTC1 promotes TopBP1 stability and CHK1 phosphorylation in response to telomere dysfunction and global replication stress.
    10. Structural genomics approach to investigate deleterious impact of nsSNPs in conserved telomere maintenance component 1.
      Title: Structural genomics approach to investigate deleterious impact of nsSNPs in conserved telomere maintenance component 1.
    Submit: New GeneRIF Correction See all GeneRIFs (39)

    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

    EBI GWAS Catalog

    Description
    Genome-wide meta-analysis points to CTC1 and ZNF676 as genes regulating telomere homeostasis in humans.
    EBI GWAS Catalog
    Genomic determinants of motor and cognitive outcomes in Parkinson's disease.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ22170, MGC133331

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables G-rich strand telomeric DNA binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables single-stranded DNA binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables single-stranded DNA binding ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    enables telomeric DNA binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables telomeric DNA binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in DNA damage response IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in bone marrow development IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in hematopoietic stem cell proliferation IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in multicellular organism growth IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in negative regulation of telomere maintenance via telomerase IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in positive regulation of DNA replication IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in positive regulation of DNA replication ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in positive regulation of fibroblast proliferation IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in regulation of G2/M transition of mitotic cell cycle IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in replicative senescence IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in spleen development IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in telomere capping TAS
    Traceable Author Statement
    more info
    		 PubMed 
    involved_in telomere maintenance IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in telomere maintenance via telomere lengthening IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in thymus development IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    part_of CST complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    part_of CST complex IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    part_of CST complex ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in chromosome, telomeric region IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
    		  
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
    		  
    located_in nucleoplasm TAS
    Traceable Author Statement
    more info
    		  
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in nucleus ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  

    General protein information

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    Preferred Names
    CST complex subunit CTC1
    Names
    CST telomere maintenance complex component 1
    CTS telomere maintenance complex component 1
    HBV DNAPTP1-transactivated protein B
    alpha accessory factor 132
    conserved telomere capping protein 1

    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.

    Genomic

    1. NG_032148.2 RefSeqGene

      Range
      5040..28281
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_1124

    mRNA and Protein(s)

    1. NM_001411067.1 → NP_001397996.1  CST complex subunit CTC1 isoform 2

      Status: REVIEWED

      Source sequence(s)
      AC135178, KF456245
      Consensus CDS
      CCDS92251.1
      UniProtKB/TrEMBL
      J3KSZ1
      Related
      ENSP00000462720.2, ENST00000581729.2

    2. NM_025099.6 → NP_079375.3  CST complex subunit CTC1 isoform 1

      See identical proteins and their annotated locations for NP_079375.3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the functional protein.
      Source sequence(s)
      AC135178, KF456245
      Consensus CDS
      CCDS42259.1
      UniProtKB/Swiss-Prot
      B3KR66, C9JEX5, Q1PCD1, Q2NKJ3, Q2TBE3, Q8N3S6, Q9H6L0
      UniProtKB/TrEMBL
      D3U719
      Related
      ENSP00000498499.1, ENST00000651323.1
      Conserved Domains (1) summary
      pfam15489
      Location:61 → 1201
      CTC1; CST, telomere maintenance, complex subunit CTC1

    RNA

    1. NR_046431.2 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks an internal exon, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most supported translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AC135178, AL831955, BU631459

    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_000017.11 Reference GRCh38.p14 Primary Assembly

      Range
      8224815..8248056 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047436799.1 → XP_047292755.1  CST complex subunit CTC1 isoform X3

    2. XM_047436801.1 → XP_047292757.1  CST complex subunit CTC1 isoform X5

    3. XM_011524010.3 → XP_011522312.1  CST complex subunit CTC1 isoform X1

      UniProtKB/TrEMBL
      D3U719
      Conserved Domains (1) summary
      pfam15489
      Location:61 → 1166
      CTC1; CST, telomere maintenance, complex subunit CTC1

    4. XM_047436802.1 → XP_047292758.1  CST complex subunit CTC1 isoform X6

    5. XM_006721577.4 → XP_006721640.1  CST complex subunit CTC1 isoform X2

      UniProtKB/TrEMBL
      D3U719
      Conserved Domains (1) summary
      pfam15489
      Location:61 → 1158
      CTC1; CST, telomere maintenance, complex subunit CTC1

    6. XM_047436807.1 → XP_047292763.1  CST complex subunit CTC1 isoform X11

      Related
      ENSP00000514647.1, ENST00000699849.1

    7. XM_011524011.3 → XP_011522313.1  CST complex subunit CTC1 isoform X11

      UniProtKB/TrEMBL
      A0A8V8TQN9
      Conserved Domains (1) summary
      pfam15489
      Location:1 → 902
      CTC1; CST, telomere maintenance, complex subunit CTC1

    8. XM_047436803.1 → XP_047292759.1  CST complex subunit CTC1 isoform X7

      UniProtKB/TrEMBL
      A0A8V8TP86
      Related
      ENSP00000514649.1, ENST00000699853.1

    9. XM_047436800.1 → XP_047292756.1  CST complex subunit CTC1 isoform X4

      Related
      ENST00000581671.2

    10. XM_047436804.1 → XP_047292760.1  CST complex subunit CTC1 isoform X8

      Related
      ENSP00000514652.1, ENST00000699859.1

    11. XM_047436806.1 → XP_047292762.1  CST complex subunit CTC1 isoform X10

    12. XM_047436805.1 → XP_047292761.1  CST complex subunit CTC1 isoform X9

      UniProtKB/TrEMBL
      A0A8V8TQB6
      Related
      ENSP00000514650.1, ENST00000699856.1

    13. XM_047436808.1 → XP_047292764.1  CST complex subunit CTC1 isoform X12

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060941.1 Alternate T2T-CHM13v2.0

      Range
      8131045..8154277 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054317339.1 → XP_054173314.1  CST complex subunit CTC1 isoform X3

    2. XM_054317341.1 → XP_054173316.1  CST complex subunit CTC1 isoform X5

    3. XM_054317337.1 → XP_054173312.1  CST complex subunit CTC1 isoform X1

    4. XM_054317342.1 → XP_054173317.1  CST complex subunit CTC1 isoform X6

    5. XM_054317338.1 → XP_054173313.1  CST complex subunit CTC1 isoform X2

    6. XM_054317347.1 → XP_054173322.1  CST complex subunit CTC1 isoform X11

    7. XM_054317348.1 → XP_054173323.1  CST complex subunit CTC1 isoform X11

    8. XM_054317343.1 → XP_054173318.1  CST complex subunit CTC1 isoform X7

    9. XM_054317340.1 → XP_054173315.1  CST complex subunit CTC1 isoform X4

    10. XM_054317344.1 → XP_054173319.1  CST complex subunit CTC1 isoform X8

    11. XM_054317346.1 → XP_054173321.1  CST complex subunit CTC1 isoform X10

    12. XM_054317345.1 → XP_054173320.1  CST complex subunit CTC1 isoform X9

    13. XM_054317349.1 → XP_054173324.1  CST complex subunit CTC1 isoform X12

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q2NKJ3.2 GenPept UniProtKB/Swiss-Prot:Q2NKJ3

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