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CTC1 Gene

protein-coding   GIFtS: 47
GCID: GC17M008207

CTS Telomere Maintenance Complex Component 1

(Previous names: tmp494178, chromosome 17 open reading frame 68)
(Previous symbol: C17orf68)
  See CTC1-related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
CTS Telomere Maintenance Complex Component 11 2     HBV DNAPTP1-Transactivated Protein B2 3
C17orf681 2 3 5     AAF1322 5
tmp4941781 2     CRMCC2 5
Conserved Telomere Maintenance Component 11 3     Chromosome 17 Open Reading Frame 681
Alpha Accessory Factor 1321 2     AAF-1322
Conserved Telomere Capping Protein 11 2     CST Complex Subunit CTC12

External Ids:    HGNC: 261691   Entrez Gene: 801692   Ensembl: ENSG000001789717   OMIM: 6131295   UniProtKB: Q2NKJ33   

Export aliases for CTC1 gene to outside databases

Previous GC identifers: GC17M008139 GC17M008145 GC17M008149 GC17M008154 GC17M008161 GC17M008174


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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 (CTS telomere maintenance complex component 1) is a protein-coding gene. Diseases associated with CTC1 include coats disease, and dyskeratosis congenita, autosomal recessive 4. GO annotations related to this gene include single-stranded DNA binding.

UniProtKB/Swiss-Prot: CTC1_HUMAN, Q2NKJ3
Function: Component of the CST complex, a complex that binds to single-stranded DNA and is required to protect
telomeres from DNA degradation. 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. In addition to
telomere protection, the CST complex has probably a more general role in DNA metabolism at non-telomeric sites




(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000017.10  NT_010718.17  NC_018928.2  
Regulatory elements:
   Search for regulatory transcription factor binding sites for CTC1
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search Chromatin IP Primers for CTC1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat CTC1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 17p13.1   Ensembl cytogenetic band:  17p13.1   HGNC cytogenetic band: 17p13.1

CTC1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CTC1 gene location

GeneLoc information about chromosome 17         GeneLoc Exon Structure

GeneLoc location for GC17M008207:  view genomic region     (about GC identifiers)

Start:
8,128,139 bp from pter      End:
8,151,413 bp from pter
Size:
23,275 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: CTC1_HUMAN, Q2NKJ3 (See protein sequence)
Recommended Name: CST complex subunit CTC1  
Size: 1217 amino acids; 134609 Da
Subunit: Component of the CST complex, composed of TEN1/C17orf106, CTC1/C17orf68 and STN1/OBFC1. Interacts with
STN1/OBFC1; the interaction is direct
Sequence caution: Sequence=BAB15247.1; Type=Erroneous initiation; Note=Translation N-terminally extended;
Sequence=CAD38600.1; Type=Erroneous initiation; Note=Translation N-terminally shortened;
Secondary accessions: B3KR66 C9JEX5 Q1PCD1 Q2TBE3 Q8N3S6 Q9H6L0
Alternative splicing: 2 isoforms:  Q2NKJ3-1   Q2NKJ3-2   (No experimental confirmation available. May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay)

Explore the universe of human proteins at neXtProt for CTC1: NX_Q2NKJ3

Explore proteomics data for CTC1 at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys74, Lys480, Lys539, Lys556
  • Modification sites at PhosphoSitePlus

  • See CTC1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_079375.3  
    ENSEMBL proteins: 
     ENSP00000396018   ENSP00000313759   ENSP00000462720   ENSP00000462607   ENSP00000463230  

    CTC1 Human Recombinant Protein Products:

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    Browse OriGene Protein Over-expression Lysates
    OriGene Custom MassSpec
    OriGene Custom Protein Services for CTC1
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    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for CTC1

     
    Search eBioscience for Proteins for CTC1 

    CTC1 Antibody Products:

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    Search for Antibodies for CTC1 at Abcam
    Cloud-Clone Corp. Antibodies for CTC1
    ThermoFisher Antibodies for CTC1
    LSBio Antibodies in human, mouse, rat for CTC1

    CTC1 Assay Products:

    Browse Kits and Assays available from EMD Millipore
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    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for CTC1
    Cloud-Clone Corp. CLIAs for CTC1
    Search eBioscience for ELISAs for CTC1 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    ProtoNet protein and cluster: Q2NKJ3

    UniProtKB/Swiss-Prot: CTC1_HUMAN, Q2NKJ3
    Similarity: Belongs to the CTC1 family


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: CTC1_HUMAN, Q2NKJ3
    Function: Component of the CST complex, a complex that binds to single-stranded DNA and is required to protect
    telomeres from DNA degradation. 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. In addition to
    telomere protection, the CST complex has probably a more general role in DNA metabolism at non-telomeric sites

         Gene Ontology (GO): 2 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003697single-stranded DNA binding ISS--
    GO:0005515protein binding IPI19854130
         
    Find genes that share ontologies with CTC1           About GenesLikeMe


    Phenotypes:
         1 GenomeRNAi human phenotype for CTC1:
     Synthetic lethal with Ras 

         8 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Ctc1):
     cellular  growth/size/body  hematopoietic system  homeostasis/metabolism  immune system 
     integument  mortality/aging  no phenotypic analysis 

    Find genes that share phenotypes with CTC1           About GenesLikeMe

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for CTC1
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for CTC1

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for CTC1
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for CTC1

    miRNA
    Products:
        
    miRTarBase miRNAs that target CTC1:
    hsa-mir-421 (MIRT039400), hsa-mir-100-5p (MIRT048592), hsa-mir-92b-3p (MIRT040539), hsa-mir-3615 (MIRT052856), hsa-mir-652-3p (MIRT039476), hsa-mir-615-3p (MIRT040272), hsa-mir-1274a (MIRT035838), hsa-mir-106b-3p (MIRT038559), hsa-mir-7-1-3p (MIRT038679), hsa-let-7e-5p (MIRT051436), hsa-mir-181d-5p (MIRT041173), hsa-mir-331-3p (MIRT043267), hsa-mir-92a-3p (MIRT048968), hsa-mir-769-5p (MIRT039186), hsa-mir-26a-5p (MIRT050102), hsa-mir-25-3p (MIRT050328), hsa-mir-93-3p (MIRT038786), hsa-mir-29c-3p (MIRT044235), hsa-mir-93-5p (MIRT048774), hsa-mir-3676-3p (MIRT052874), hsa-mir-99a-5p (MIRT048685)

    Block miRNA regulation of human, mouse, rat CTC1 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate CTC1 (see all 23):
    hsa-miR-4305 hsa-miR-29c hsa-miR-29a hsa-miR-3167 hsa-miR-124 hsa-miR-1538 hsa-miR-506 hsa-miR-362-5p
    SwitchGear 3'UTR luciferase reporter plasmidCTC1 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat CTC1

    Gene Editing
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    GenScript: all cDNA clones in your preferred vector: CTC1 (NM_005159)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for CTC1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat CTC1

    Cell Line
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    Browse ESI BIO Cell Lines and PureStem Progenitors for CTC1 
    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CTC1


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    CTC1_HUMAN, Q2NKJ3: 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

    Gene Ontology (GO): 3 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000784nuclear chromosome, telomeric region IDA19854130
    GO:0005634nucleus ISS--
    GO:0070188Stn1-Ten1 complex ISS--

    Find genes that share ontologies with CTC1           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for CTC1
    Interactions:

        Search GeneGlobe Interaction Network for CTC1

    STRING Interaction Network Preview (showing 4 interactants - click image to see more details)

    4 Interacting proteins for CTC1 (Q2NKJ31 ENSP000003137594) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    OBFC1Q9H6681, ENSP000002249504EBI-2562802,EBI-746930 STRING: ENSP00000224950
    POT1ENSP000003502494STRING: ENSP00000350249
    UBCENSP000003448184STRING: ENSP00000344818
    RPA2ENSP000003630214STRING: ENSP00000363021
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 14):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000723telomere maintenance IMP19854131
    GO:0006974cellular response to DNA damage stimulus IEA--
    GO:0007568aging ----
    GO:0010389regulation of G2/M transition of mitotic cell cycle IEA--
    GO:0010833telomere maintenance via telomere lengthening IEA--

    Find genes that share ontologies with CTC1           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for CTC1



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for CTC1 gene: 
    NM_025099.5  

    Unigene Cluster for CTC1:

    CTS telomere maintenance complex component 1
    Hs.156055  [show with all ESTs]
    Unigene Representative Sequence: NM_025099
    13 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000449476(uc002gkq.4 uc010cnv.3) ENST00000315684 ENST00000581729
    ENST00000580299 ENST00000578441 ENST00000578537 ENST00000578240 ENST00000584439
    ENST00000581967 ENST00000583254 ENST00000579066 ENST00000581671 ENST00000584842

    miRNA
    Products:
         
    Block miRNA regulation of human, mouse, rat CTC1 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate CTC1 (see all 23):
    hsa-miR-4305 hsa-miR-29c hsa-miR-29a hsa-miR-3167 hsa-miR-124 hsa-miR-1538 hsa-miR-506 hsa-miR-362-5p
    SwitchGear 3'UTR luciferase reporter plasmidCTC1 3' UTR sequence
    Inhib. RNA
    Products:
         
    OriGene RNAi products in human, mouse, rat for CTC1
    Predesigned siRNA for gene silencing in human, mouse, rat CTC1
    Clone
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    OriGene clones in human, mouse for CTC1 (see all 6)
    OriGene ORF clones in mouse, rat for CTC1
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: CTC1 (NM_005159)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for CTC1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat CTC1
    Primer
    Products:
        
    OriGene qSTAR qPCR primer pairs in human, mouse for CTC1
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat CTC1
      QuantiTect SYBR Green Assays in human, mouse, rat CTC1
      QuantiFast Probe-based Assays in human, mouse, rat CTC1

    Additional mRNA sequence: 

    AK025823.1 AK091077.1 AK225375.1 AK310636.1 BC026057.2 BC110373.1 BC111783.1 DQ451688.1 
    FJ790670.1 NR_046431.1 

    14 DOTS entries:

    DT.407380  DT.425872  DT.100747230  DT.91894781  DT.92022394  DT.70102685  DT.91823027  DT.91680858 
    DT.92420329  DT.100716690  DT.100737391  DT.121005355  DT.121005392  DT.92420328 

    Selected AceView cDNA sequences (see all 91):

    Z41923 AI336988 BF915066 CA426505 AW665083 BG822205 Z38218 AI243332 
    BM984769 BX444395 BC026057 AA626584 AA971066 BM552583 BG686442 BG911027 
    AK025823 BM127022 BF001705 AA328784 AI917726 AW613988 BX452628 CK819040 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for CTC1 (see all 10)    About this scheme

    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:                                                                                                                                                            

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


    ECgene alternative splicing isoforms for CTC1

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    CTC1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TATGGCCGGG
    CTC1 Expression
    About this image

    CTC1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    CTC1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.156055
        Custom PCR Arrays for CTC1
    Primer
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    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat CTC1
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    QuantiFast Probe-based Assays in human, mouse, rat CTC1
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CTC1

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of chordates.

    Orthologs for CTC1 gene from Selected species (see all 11)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Ctc11 , 5 RIKEN cDNA 1500010J02 gene5
    CTS telomere maintenance complex component 11
    76.86(n)1
    69.42(a)1
      11 (42.29 cM)5
    689641  NM_001013256.21  NP_001013274.21 
     690159115 
    chicken
    (Gallus gallus)
    Aves CTC11 CTS telomere maintenance complex component 1 51.09(n)
    41.33(a)
      418324  XM_416547.4  XP_416547.4 
    lizard
    (Anolis carolinensis)
    Reptilia CTC16
    CTS telomere maintenance complex component 1
    36(a)
    1 ↔ 1
    GL343473.1(552328-567654)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia ctc11 CTS telomere maintenance complex component 1 45.67(n)
    33.8(a)
      100158579  NM_001128009.1  NP_001121481.1 
    zebrafish
    (Danio rerio)
    Actinopterygii ctc11 CTS telomere maintenance complex component 1 44.35(n)
    32.25(a)
      777638  NM_001077745.1  NP_001071213.1 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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      --

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for CTC1 (see all 737)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 17 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0673734
    Cerebroretinal microangiopathy with calcifications and cysts (CRMCC)4--see VAR_0673732 R W mis40--------
    VAR_0673774
    Cerebroretinal microangiopathy with calcifications and cysts (CRMCC)4--see VAR_0673772 R W mis40--------
    VAR_0673724
    Cerebroretinal microangiopathy with calcifications and cysts (CRMCC)4--see VAR_0673722 V G mis40--------
    VAR_0673744
    Cerebroretinal microangiopathy with calcifications and cysts (CRMCC)4--see VAR_0673742 V M mis40--------
    VAR_0673694
    Cerebroretinal microangiopathy with calcifications and cysts (CRMCC)4--see VAR_0673692 A V mis40--------
    VAR_0673784
    Cerebroretinal microangiopathy with calcifications and cysts (CRMCC)4--see VAR_0673782 L H mis40--------
    VAR_0673754
    Cerebroretinal microangiopathy with calcifications and cysts (CRMCC)4--see VAR_0673752 R G mis40--------
    VAR_0673714
    Cerebroretinal microangiopathy with calcifications and cysts (CRMCC)4--see VAR_0673712 G R mis40--------
    VAR_0673704
    Cerebroretinal microangiopathy with calcifications and cysts (CRMCC)4--see VAR_0673702 V M mis40--------
    rs1994736761,2
    Cpathogenic18124564(-) GGACGG/TGAGAA 3 G V mis10--------

    HapMap Linkage Disequilibrium report for CTC1 (8128139 - 8151413 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 4 variations for CTC1:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2676105CNV Deletion23128226
    esv2715611CNV Deletion23290073
    nsv833353CNV Loss17160897
    nsv907658CNV Loss21882294

    Human Gene Mutation Database (HGMD): CTC1
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing CTC1
    DNA2.0 Custom Variant and Variant Library Synthesis for CTC1

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 613129   
    OMIM disorders: 612199  
    UniProtKB/Swiss-Prot: CTC1_HUMAN, Q2NKJ3
  • 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. Note=The disease is caused by mutations affecting the gene represented in
    this entry

  • 2 diseases for CTC1:    
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    coats disease    dyskeratosis congenita, autosomal recessive 4


    Find genes that share disorders with CTC1           About GenesLikeMe


    Export disorders for CTC1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for CTC1 gene, integrated from 10 sources (see all 23):
    (articles sorted by number of sources associating them with CTC1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. RPA-like mammalian Ctc1-Stn1-Ten1 complex binds to single-stranded DNA and protects telomeres independently of the Pot1 pathway. (PubMed id 19854130)1, 2, 3 Miyake Y.... Ishikawa F. (Mol. Cell 2009)
    2. Conserved telomere maintenance component 1 interacts with STN1 and maintains chromosome ends in higher eukaryotes. (PubMed id 19854131)1, 2, 3 Surovtseva Y.V.... Shippen D.E. (Mol. Cell 2009)
    3. Mutations in CTC1, encoding the CTS telomere maintenance complex component 1, cause cerebroretinal microangiopathy with calcifications and cysts. (PubMed id 22387016)1, 2 Polvi A.... Lehesjoki A.E. (Am. J. Hum. Genet. 2012)
    4. Mutations in CTC1, encoding conserved telomere maintenance component 1, cause Coats plus. (PubMed id 22267198)1, 2 Anderson B.H.... Crow Y.J. (Nat. Genet. 2012)
    5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    6. Molecular basis of telomere syndrome caused by CTC1 mutations. (PubMed id 24115768)1 Chen L.Y....Lingner J. (amp 2013)
    7. Genome-wide meta-analysis points to CTC1 and ZNF676 as genes regulating telomere homeostasis in humans. (PubMed id 23001564)1 Mangino M....Aviv A. (Hum. Mol. Genet. 2012)
    8. The human CST complex is a terminator of telomerase activity. (PubMed id 22763445)1 Chen L.Y....Lingner J. (Nature 2012)
    9. CTC1 Mutations in a patient with dyskeratosis congenita. (PubMed id 22532422)1 Keller R.B....Agarwal S. (amp 2012)
    10. Genomic determinants of motor and cognitive outcomes in Parkinson's disease. (PubMed id 22658654)1 Chung S.J....Maraganore D.M. (amp 2012)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 80169 HGNC: 26169 AceView: FLJ22170 Ensembl:ENSG00000178971 euGenes: HUgn80169
    ECgene: CTC1 H-InvDB: CTC1

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for CTC1 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for CTC1 gene:
    Search GeneIP for patents involving CTC1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, eBioscience, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
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