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

    Gene ID: 80169, updated on 19-Nov-2017
    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; Vega:OTTHUMG00000178443
    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]
    Orthologs
    Location:
    17p13.1
    Exon count:
    23
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 17 NC_000017.11 (8224821..8248095, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (8128139..8151413, complement)

    Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene transfer RNA-Asp (GTC) 2-11 Neighboring gene long intergenic non-protein coding RNA 324 Neighboring gene transfer RNA-Pro (CGG) 1-3 Neighboring gene transfer RNA-Thr (AGT) 1-2 Neighboring gene transfer RNA-Ser (AGA) 2-6 Neighboring gene transfer RNA-Ile (AAT) 4-1 Neighboring gene phosphoribosylformylglycinamidine synthase Neighboring gene solute carrier family 25 member 35 Neighboring gene RAN guanine nucleotide release factor

    • 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 Jun 15 11:32:44 2016

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Associated conditions

    Description Tests
    Cerebroretinal microangiopathy with calcifications and cysts 1
    MedGen: C2677299 OMIM: 612199 GeneReviews: Not available
    Compare labs

    NHGRI GWAS Catalog

    Description
    Genome-wide meta-analysis points to CTC1 and ZNF676 as genes regulating telomere homeostasis in humans.
    NHGRI GWA Catalog
    Genomic determinants of motor and cognitive outcomes in Parkinson's disease.
    NHGRI GWA Catalog
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Clone Names

    • FLJ22170, MGC133331

    Gene Ontology Provided by GOA

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

    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
      5001..28275
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_025099.5NP_079375.3  CST complex subunit CTC1

      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, BC111783, BU631459, BX406692, DA313518
      Consensus CDS
      CCDS42259.1
      UniProtKB/Swiss-Prot
      Q2NKJ3
      Related
      ENSP00000313759.8, OTTHUMP00000259454, ENST00000315684.12, OTTHUMT00000442012
      Conserved Domains (1) summary
      pfam15489
      Location:611201
      CTC1; CST, telomere maintenance, complex subunit CTC1

    RNA

    1. NR_046431.1 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: Homo sapiens Annotation Release 108 details...Open this link in a new tab

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000017.11 Reference GRCh38.p7 Primary Assembly

      Range
      8224821..8248095 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011524010.2XP_011522312.1  CST complex subunit CTC1 isoform X1

      Related
      ENSP00000396018.2, OTTHUMP00000259453, ENST00000449476.6, OTTHUMT00000442011
      Conserved Domains (1) summary
      pfam15489
      Location:611166
      CTC1; CST, telomere maintenance, complex subunit CTC1
    2. XM_006721577.3XP_006721640.1  CST complex subunit CTC1 isoform X2

      Conserved Domains (1) summary
      pfam15489
      Location:611158
      CTC1; CST, telomere maintenance, complex subunit CTC1
    3. XM_006721578.3XP_006721641.1  CST complex subunit CTC1 isoform X3

      Conserved Domains (1) summary
      pfam15489
      Location:611124
      CTC1; CST, telomere maintenance, complex subunit CTC1
    4. XM_011524011.2XP_011522313.1  CST complex subunit CTC1 isoform X4

      Conserved Domains (1) summary
      pfam15489
      Location:1902
      CTC1; CST, telomere maintenance, complex subunit CTC1

    RNA

    1. XR_001752639.1 RNA Sequence

    2. XR_001752642.1 RNA Sequence

    3. XR_001752641.1 RNA Sequence

    4. XR_001752640.1 RNA Sequence

    5. XR_429824.3 RNA Sequence

    6. XR_429823.3 RNA Sequence

    7. XR_001752643.1 RNA Sequence

    8. XR_429825.1 RNA Sequence

    9. XR_001752644.1 RNA Sequence

    Alternate CHM1_1.1

    Genomic

    1. NC_018928.2 Alternate CHM1_1.1

      Range
      8137269..8160346 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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