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FLASH GENE
Symbol CTC1 contributors: mct/npt - updated : 11-12-2013
HGNC name CTS telomere maintenance complex component 1
HGNC id 26169
Corresponding disease
CRMCC cerebroretinal microangiopathy with calcifications and cysts
Location 17p13.1      Physical location : -
Genatlas name conserved telomere maintenance component 1
Synonym name
  • HBV DNAPTP1-transactivated protein B
  • alpha accessory factor 132
  • chromosome 17 open reading frame 68
  • Synonym symbol(s) FLJ22170, MGC133331, AAF-132, C17orf68
    DNA
    TYPE functioning gene
    STRUCTURE 21.22 kb     23 Exon(s)
    MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    23 - 7089 134.5 1217 - 2012 22267198
    EXPRESSION
    Type
       expressed in (based on citations)
    organ(s)
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • multiple OB-fold domains (Surovtseva 2009)
  • HOMOLOGY
    Homologene
    FAMILY
    CATEGORY DNA associated
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,nucleus
    basic FUNCTION
  • when coexpressed, OBFC1 and CTC1 formed an AAF complex that stimulated DNA primase activity or human polymerase-alpha-primase (Casteel 2009)
  • participates in telomere maintenance in diverse species and a CST-like complex is required for telomere integrity in multicellular organisms (Surovtseva 2009)
  • appears to function in a telomere-associated complex with OBFC1 and TEN1 (Miyake 2009)
  • may have a function in DNA metabolism that is necessary for but not specific to telomeric integrity
  • CTC1/OBFC1/TEN1 rescues stalled replication forks during conditions of replication stress, such as those found at natural replication barriers, likely by facilitating dormant origin firing
  • CTC1 and ZNF676 are genes regulating telomere homeostasis
  • CST (CTC1-OBFC1-TEN1) complex is directly involved at several stages of telomere end formation
  • TEN1 likely functions in conjunction with CTC1 and OBFC1 at the telomere and elsewhere in the genome
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
  • forms with STN1 and TEN1 a trimeric complex termed CST, which binds ssDNA, promotes telomere DNA synthesis, and inhibits telomerase-mediated telomere elongation
  • INTERACTION
    DNA
    RNA
    small molecule
    protein
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) CRMCC
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
    Ctc1 null mice experience rapid onset of global cellular proliferative defects and die prematurely from complete bone marrow failure due to the activation of an ATR-dependent G2/M checkpoint