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Aliases for CTC1 Gene

Aliases for CTC1 Gene

  • CST Telomere Replication Complex Component 1 2 3 5
  • CST Telomere Maintenance Complex Component 1 2 3
  • Conserved Telomere Maintenance Component 1 2 4
  • Conserved Telomere Capping Protein 1 2 3
  • HBV DNAPTP1-Transactivated Protein B 3 4
  • Alpha Accessory Factor 132 2 3
  • Tmp494178 2 3
  • C17orf68 3 4
  • CTS Telomere Maintenance Complex Component 1 3
  • Chromosome 17 Open Reading Frame 68 2
  • CST Complex Subunit CTC1 3
  • AAF-132 3
  • AAF132 3
  • CRMCC 3

External Ids for CTC1 Gene

Previous HGNC Symbols for CTC1 Gene

  • C17orf68

Previous GeneCards Identifiers for CTC1 Gene

  • GC17M008139
  • GC17M008145
  • GC17M008149
  • GC17M008154
  • GC17M008161
  • GC17M008174
  • GC17M008207
  • GC17M008247
  • GC17M008283
  • GC17M008323
  • GC17M008357

Summaries for CTC1 Gene

Entrez Gene Summary for CTC1 Gene

  • 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]

GeneCards Summary for CTC1 Gene

CTC1 (CST Telomere Replication Complex Component 1) is a Protein Coding gene. Diseases associated with CTC1 include Cerebroretinal Microangiopathy With Calcifications And Cysts and Dyskeratosis Congenita. GO annotations related to this gene include single-stranded DNA binding.

UniProtKB/Swiss-Prot for CTC1 Gene

  • Component of the CST complex proposed to act as a specialized replication factor promoting DNA replication under conditions of replication stress or natural replication barriers such as the telomere duplex. The CST complex binds single-stranded DNA with high affinity in a sequence-independent manner, while isolated subunits bind DNA with low affinity by themselves. Initially the CST complex has been proposed to protect telomeres from DNA degradation (PubMed:19854130). However, the CST complex has been shown to be involved in several aspects of telomere replication. The CST complex inhibits telomerase and is involved in telomere length homeostasis; it is proposed to bind to newly telomerase-synthesized 3 overhangs and to terminate telomerase action implicating the association with the ACD:POT1 complex thus interfering with its telomerase stimulation activity. The CST complex is also proposed to be involved in fill-in synthesis of the telomeric C-strand probably implicating recruitment and activation of DNA polymerase alpha (PubMed:22763445). The CST complex facilitates recovery from many forms of exogenous DNA damage; seems to be involved in the re-initiation of DNA replication at repaired forks and/or dormant origins (PubMed:25483097). Involved in telomere maintenance (PubMed:19854131, PubMed:22863775). Involved in genome stability (PubMed:22863775). May be in involved in telomeric C-strand fill-in during late S/G2 phase (By similarity).

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CTC1 Gene

Genomics for CTC1 Gene

Regulatory Elements for CTC1 Gene

Enhancers for CTC1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH17F007833 1.7 FANTOM5 ENCODE 55.2 +408.4 408366 12.5 CREB3L1 MLX ZFP64 FEZF1 DMAP1 YY1 ZNF416 ZNF143 ZNF548 ZNF263 DVL2 PFAS CTC1 SNORD10 LOC105371523 SNORA48 MIR6883 KCTD11 KDM6B CNTROB
GH17F008185 1.2 ENCODE 75.6 +59.7 59712 5.8 CREB3L1 MLX ZFP64 YY1 ZNF143 ZNF263 SP3 NFYC ZFP41 SSRP1 DVL2 PFAS CTC1 LOC105371523 CNTROB SNORD10 SNORA48 MIR6883 KCTD11 NEURL4
GH17F007328 1.5 FANTOM5 ENCODE 56.5 +918.4 918372 3.1 MLX ZFP64 FEZF1 DMAP1 YY1 ZNF143 ZNF416 ZNF263 MCM3 SP3 DVL2 PFAS CTC1 SNORD10 CNTROB SNORA48 ACAP1 NEURL4 KIAA0753 MIR6883
GH17F008172 1.2 ENCODE 70 +73.1 73129 5.2 CREB3L1 MLX ZFP64 FEZF1 DMAP1 YY1 SLC30A9 ZNF416 ZNF143 ZNF263 DVL2 PFAS CTC1 SNORD10 CNTROB MIR6883 LOC105371523 SNORA48 RPL26 KCTD11
GH17F008093 1.2 Ensembl ENCODE 65 +153.9 153872 0.8 ZFP64 ZNF493 ZNF2 ZNF121 ZNF302 ZNF143 KLF7 ZNF202 SP3 REST DVL2 PFAS CTC1 CNTROB LOC105371523 SNORD10 SNORA48 RPL26 MIR6883 KCTD11
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around CTC1 on UCSC Golden Path with GeneCards custom track

Genomic Location for CTC1 Gene

Chromosome:
17
Start:
8,224,821 bp from pter
End:
8,248,095 bp from pter
Size:
23,275 bases
Orientation:
Minus strand

Genomic View for CTC1 Gene

Genes around CTC1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CTC1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CTC1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CTC1 Gene

Proteins for CTC1 Gene

  • Protein details for CTC1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q2NKJ3-CTC1_HUMAN
    Recommended name:
    CST complex subunit CTC1
    Protein Accession:
    Q2NKJ3
    Secondary Accessions:
    • B3KR66
    • C9JEX5
    • Q1PCD1
    • Q2TBE3
    • Q8N3S6
    • Q9H6L0

    Protein attributes for CTC1 Gene

    Size:
    1217 amino acids
    Molecular mass:
    134609 Da
    Quaternary structure:
    • Component of the CST complex, composed of TEN1/C17orf106, CTC1/C17orf68 and STN1/OBFC1; in the complex interacts directly with STN1/OBFC1. Interacts with ACD and POT1.
    SequenceCaution:
    • Sequence=BAB15247.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=CAD38600.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305};

    Alternative splice isoforms for CTC1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for CTC1 Gene

Post-translational modifications for CTC1 Gene

  • Ubiquitination at Lys 74, Lys 480, Lys 539, and Lys 556
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for CTC1 Gene

Domains & Families for CTC1 Gene

Gene Families for CTC1 Gene

Protein Domains for CTC1 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for CTC1 Gene

Graphical View of Domain Structure for InterPro Entry

Q2NKJ3

UniProtKB/Swiss-Prot:

CTC1_HUMAN :
  • Belongs to the CTC1 family.
Family:
  • Belongs to the CTC1 family.
genes like me logo Genes that share domains with CTC1: view

Function for CTC1 Gene

Molecular function for CTC1 Gene

UniProtKB/Swiss-Prot Function:
Component of the CST complex proposed to act as a specialized replication factor promoting DNA replication under conditions of replication stress or natural replication barriers such as the telomere duplex. The CST complex binds single-stranded DNA with high affinity in a sequence-independent manner, while isolated subunits bind DNA with low affinity by themselves. Initially the CST complex has been proposed to protect telomeres from DNA degradation (PubMed:19854130). However, the CST complex has been shown to be involved in several aspects of telomere replication. The CST complex inhibits telomerase and is involved in telomere length homeostasis; it is proposed to bind to newly telomerase-synthesized 3 overhangs and to terminate telomerase action implicating the association with the ACD:POT1 complex thus interfering with its telomerase stimulation activity. The CST complex is also proposed to be involved in fill-in synthesis of the telomeric C-strand probably implicating recruitment and activation of DNA polymerase alpha (PubMed:22763445). The CST complex facilitates recovery from many forms of exogenous DNA damage; seems to be involved in the re-initiation of DNA replication at repaired forks and/or dormant origins (PubMed:25483097). Involved in telomere maintenance (PubMed:19854131, PubMed:22863775). Involved in genome stability (PubMed:22863775). May be in involved in telomeric C-strand fill-in during late S/G2 phase (By similarity).

Gene Ontology (GO) - Molecular Function for CTC1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003677 DNA binding IEA --
GO:0003697 single-stranded DNA binding IEA,ISS --
GO:0005515 protein binding IPI 19854130
GO:0010521 contributes_to telomerase inhibitor activity IDA 22763445
GO:0042162 telomeric DNA binding IDA 19854130
genes like me logo Genes that share ontologies with CTC1: view
genes like me logo Genes that share phenotypes with CTC1: view

Human Phenotype Ontology for CTC1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for CTC1 Gene

MGI Knock Outs for CTC1:

Animal Model Products

miRNA for CTC1 Gene

miRTarBase miRNAs that target CTC1

Inhibitory RNA Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for CTC1 Gene

Localization for CTC1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CTC1 Gene

Nucleus. Chromosome, telomere. Note=A transmembrane region is predicted by sequence analysis tools (ESKW, MEMSAT and Phobius); however, given the telomeric localization of the protein, the relevance of the transmembrane region is unsure in vivo. {ECO:0000305}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for CTC1 gene
Compartment Confidence
nucleus 5
cytosol 2
plasma membrane 1
extracellular 1
peroxisome 1
endoplasmic reticulum 1

Gene Ontology (GO) - Cellular Components for CTC1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000781 chromosome, telomeric region IEA --
GO:0000784 nuclear chromosome, telomeric region IDA 19854130
GO:0005634 nucleus ISS --
GO:0005694 chromosome IEA --
GO:1990879 CST complex ISS,IDA --
genes like me logo Genes that share ontologies with CTC1: view

Pathways & Interactions for CTC1 Gene

No Data Available

Gene Ontology (GO) - Biological Process for CTC1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000723 telomere maintenance IMP 19854131
GO:0006974 cellular response to DNA damage stimulus IEA --
GO:0007568 aging IEA --
GO:0010389 regulation of G2/M transition of mitotic cell cycle IEA --
GO:0010833 telomere maintenance via telomere lengthening IEA --
genes like me logo Genes that share ontologies with CTC1: view

No data available for Pathways by source and SIGNOR curated interactions for CTC1 Gene

Transcripts for CTC1 Gene

Unigene Clusters for CTC1 Gene

CTS telomere maintenance complex component 1:
Representative Sequences:

Inhibitory RNA Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for CTC1 Gene

ExUns: 1 ^ 2a · 2b ^ 3a · 3b ^ 4 ^ 5a · 5b ^ 6 ^ 7 ^ 8a · 8b ^ 9a · 9b ^ 10 ^ 11 ^ 12a · 12b ^ 13a · 13b · 13c ^ 14 ^ 15 ^ 16a · 16b ^ 17a ·
SP1: - - - -
SP2: - - - - -
SP3: - -
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:

ExUns: 17b · 17c ^ 18 ^ 19a · 19b ^ 20 ^ 21 ^ 22 ^ 23 ^ 24a · 24b · 24c · 24d
SP1: -
SP2: - -
SP3: -
SP4: - - -
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:

Relevant External Links for CTC1 Gene

GeneLoc Exon Structure for
CTC1
ECgene alternative splicing isoforms for
CTC1

Expression for CTC1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for CTC1 Gene

Protein differential expression in normal tissues from HIPED for CTC1 Gene

This gene is overexpressed in Peripheral blood mononuclear cells (55.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for CTC1 Gene



Protein tissue co-expression partners for CTC1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of CTC1 Gene:

CTC1

SOURCE GeneReport for Unigene cluster for CTC1 Gene:

Hs.156055
genes like me logo Genes that share expression patterns with CTC1: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for CTC1 Gene

Orthologs for CTC1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for CTC1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia CTC1 34 35
  • 97 (n)
cow
(Bos Taurus)
Mammalia CTC1 34 35
  • 82.91 (n)
dog
(Canis familiaris)
Mammalia CTC1 34 35
  • 81.56 (n)
mouse
(Mus musculus)
Mammalia Ctc1 34 16 35
  • 76.86 (n)
rat
(Rattus norvegicus)
Mammalia Ctc1 34
  • 76.82 (n)
oppossum
(Monodelphis domestica)
Mammalia CTC1 35
  • 59 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia CTC1 35
  • 53 (a)
OneToOne
chicken
(Gallus gallus)
Aves CTC1 34 35
  • 51.09 (n)
lizard
(Anolis carolinensis)
Reptilia CTC1 35
  • 36 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ctc1 34
  • 45.67 (n)
zebrafish
(Danio rerio)
Actinopterygii ctc1 34 35
  • 44.35 (n)
Species where no ortholog for CTC1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for CTC1 Gene

ENSEMBL:
Gene Tree for CTC1 (if available)
TreeFam:
Gene Tree for CTC1 (if available)

Paralogs for CTC1 Gene

No data available for Paralogs for CTC1 Gene

Variants for CTC1 Gene

Sequence variations from dbSNP and Humsavar for CTC1 Gene

SNP ID Clin Chr 17 pos Sequence Context AA Info Type
rs199473673 Cerebroretinal microangiopathy with calcifications and cysts (CRMCC) [MIM:612199], Pathogenic 8,237,487(-) CCTGG(C/T)TGGGA intron-variant, nc-transcript-variant, reference, missense, utr-variant-5-prime
rs199473676 Cerebroretinal microangiopathy with calcifications and cysts (CRMCC) [MIM:612199], Pathogenic 8,232,427(-) GGACG(G/T)GAGAA nc-transcript-variant, reference, missense
rs199473678 Cerebroretinal microangiopathy with calcifications and cysts (CRMCC) [MIM:612199] 8,230,304(-) AGAAA(A/G)GGGTT nc-transcript-variant, reference, missense
rs199473681 Cerebroretinal microangiopathy with calcifications and cysts (CRMCC) [MIM:612199]
rs202138550 Cerebroretinal microangiopathy with calcifications and cysts (CRMCC) [MIM:612199], Pathogenic 8,229,943(+) TGACC(A/G)GAAAC intron-variant, nc-transcript-variant, reference, missense

Structural Variations from Database of Genomic Variants (DGV) for CTC1 Gene

Variant ID Type Subtype PubMed ID
nsv833353 CNV loss 17160897
nsv472391 CNV novel sequence insertion 20440878
nsv1113848 CNV deletion 24896259
nsv1113847 CNV deletion 24896259
esv2715611 CNV deletion 23290073
esv2676105 CNV deletion 23128226

Variation tolerance for CTC1 Gene

Residual Variation Intolerance Score: 74% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.26; 62.48% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for CTC1 Gene

Human Gene Mutation Database (HGMD)
CTC1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
CTC1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CTC1 Gene

Disorders for CTC1 Gene

MalaCards: The human disease database

(13) MalaCards diseases for CTC1 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
cerebroretinal microangiopathy with calcifications and cysts
  • coats plus syndrome
dyskeratosis congenita
  • zinsser-cole-engman syndrome
dyskeratosis congenita, x-linked
  • dyskeratosis congenita x-linked
retinal telangiectasia
coats disease
  • coats' disease
- elite association - COSMIC cancer census association via MalaCards
Search CTC1 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

CTC1_HUMAN
  • Cerebroretinal microangiopathy with calcifications and cysts (CRMCC) [MIM:612199]: An autosomal recessive pleiomorphic disorder characterized primarily by intracranial calcifications, leukodystrophy, and brain cysts, resulting in spasticity, ataxia, dystonia, seizures, and cognitive decline. Patients also have retinal telangiectasia and exudates (Coats disease) as well as extraneurologic manifestations, including osteopenia with poor bone healing and a high risk of gastrointestinal bleeding and portal hypertension caused by vasculature ectasias in the stomach, small intestine, and liver. Some individuals also have hair, skin, and nail changes, as well as anemia and thrombocytopenia. {ECO:0000269 PubMed:22267198, ECO:0000269 PubMed:22387016}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for CTC1

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
CTC1
genes like me logo Genes that share disorders with CTC1: view

No data available for Genatlas for CTC1 Gene

Publications for CTC1 Gene

  1. RPA-like mammalian Ctc1-Stn1-Ten1 complex binds to single-stranded DNA and protects telomeres independently of the Pot1 pathway. (PMID: 19854130) Miyake Y. … Ishikawa F. (Mol. Cell 2009) 2 3 4 64
  2. Conserved telomere maintenance component 1 interacts with STN1 and maintains chromosome ends in higher eukaryotes. (PMID: 19854131) Surovtseva Y.V. … Shippen D.E. (Mol. Cell 2009) 2 3 4 64
  3. Mutations in CTC1, encoding conserved telomere maintenance component 1, cause Coats plus. (PMID: 22267198) Anderson B.H. … Crow Y.J. (Nat. Genet. 2012) 3 4 64
  4. Mutations in CTC1, encoding the CTS telomere maintenance complex component 1, cause cerebroretinal microangiopathy with calcifications and cysts. (PMID: 22387016) Polvi A. … Lehesjoki A.E. (Am. J. Hum. Genet. 2012) 3 4 64
  5. The human CST complex is a terminator of telomerase activity. (PMID: 22763445) Chen L.Y. … Lingner J. (Nature 2012) 3 4 64

Products for CTC1 Gene

Sources for CTC1 Gene

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