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FLASH GENE
Symbol CHTF18 contributors: mct/npt - updated : 10-04-2018
HGNC name CTF18, chromosome transmission fidelity factor 18 homolog (S. cerevisiae)
HGNC id 18435
Location 16p13.3      Physical location : 838.621 - 848.072
Synonym name
  • chromosome 16 open reading frame 41
  • homolog of yeast CHL12
  • protein CTF18 homolog
  • some homology with holliday junction DNA helicase RUVB like
  • Synonym symbol(s) CHL12, C16orf41, C321D2.4, RUVBL, CTF18
    DNA
    TYPE functioning gene
    SPECIAL FEATURE
    text antisense to GNG13 over 49bp
    STRUCTURE 9.45 kb     22 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    22 - 3096 107.4 975 - 2007 17636314
    EXPRESSION
    Type widely
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestiveliver   highly
    Endocrinethyroid    
    Reproductivefemale systemovary  highly
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Connectivebone  highly
    cell lineage
    cell lines hepatocellular carcinoma, medulloblastoma
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • a N terminal nuclear localization signal (NLS)
  • a proline rich domain
  • a NTPase domain
  • a RFC domain
  • an ankyrin repeat domain
  • two leucine zipper motifs
  • C-terminal 23-AA stretch of CHTF18 was necessary for the trimeric association of complex CHTF18, DCC1, and CHTF8 and was required for the stable interaction
  • mono polymer complex
    HOMOLOGY
    interspecies homolog to yeast Chl12
    Homologene
    FAMILY
  • activator 1 small subunits family
  • CTF18 subfamily
  • CATEGORY DNA associated
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,nucleus,chromatin/chromosome,heterochromosome
    text with ATAD5, localize to chromatin and ATAD5 plays a role in the recruitment of CHTF18 (Parnas 2009)
    basic FUNCTION
  • having ATP binding activity
  • may be involved in cohesion establishment during S phase
  • binds chromatin during S phase suggesting a role during replication
  • involved in damage-induced homologous recombination
  • with WDHD1, and ATAD5 may coordinate the relative movement of the replication fork with respect to the cohesin ring (Parnas 2009)
  • CHTF18 confers likely protection against stalling and/or breaks at the replication fork in cells that either lack, or are compromised for, telomerase activity
  • CHTF18-RFC1 clamp loader contains a unique module in which the DSCC1-CHTF8 complex is bound to the C terminus of CHTF18 (the CHTF18-DSCC1-CHTF8 module)
  • CELLULAR PROCESS nucleotide, replication
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
  • alternative CHTF18-DSCC1-CHTF8-replication factor C complex required for sister chromatid cohesion loads proliferating cell nuclear antigen onto DNA (Bermudez 2003)
  • C-terminal 23-AA stretch of CHTF18 was necessary for the trimeric association of complex CHTF18, DSCC1, and CHTF8 and was required for the stable interaction
  • INTERACTION
    DNA DNA binding
    RNA
    small molecule
  • ATP
  • protein
  • PCNA
  • forming a complex with CTF8 and DSCC1
  • CHTF18-RFC1, stimulates DNA polymerase eta activity
  • CHTF18-RFC1 has multiple interactions with POLE that promote polymorphic modulation of DNA synthesis
  • association of CHTF18-RFC1 with POLE at defective replication forks is a key step in activation of the S-phase checkpoint
  • interacts with replication protein A (RPA1) in response to replication stress
  • CHTF18-RFC1 appears to be involved in leading-strand DNA synthesis through its interaction with POLE, and can load PCNA onto DNA when POLE is not in DNA synthesis mode to restore DNA synthesis
  • CHTF18-RFC1 is an alternative PCNA loader which plays important but poorly understood roles in multiple DNA replication-associated processes
  • cell & other
    REGULATION
    Other increases as cells progress through S phase
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral somatic mutation      
    could lead to the chromosomal instability known as a hallmark of most cancers
    Susceptibility
    Variant & Polymorphism
    Candidate gene for cancer predisposition because of loss leading to abnormal yet viable phenotype
    Marker
    Therapy target
    ANIMAL & CELL MODELS