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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
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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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