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FLASH GENE
Symbol OBFC1 contributors: mct/npt/pgu - updated : 11-12-2013
HGNC name oligonucleotide/oligosaccharide-binding fold containing 1
HGNC id 26200
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
10 - 6483 - 368 - 2009 19648609
EXPRESSION
Type
   expressed in (based on citations)
organ(s)
cell lineage
cell lines
fluid/secretion
at STAGE
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • an oligonucleotide/oligosaccharide-binding (OB) fold domain similar to the OB fold domains of RPA involved in single-stranded DNA binding
    • HOMOLOGY
    interspecies homolog to yeast Stn1
    Homologene
    FAMILY
    CATEGORY enzyme
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,cytoskeleton,intermed filament
    intracellular,nucleus,chromatin/chromosome,telomere
    basic FUNCTION
  • when coexpressed, OBFC1 and CTC1 formed an AAF complex that stimulated DNA primase activity or human polymerase-alpha-primase
  • regulates DNA replication, consistent with its ability to increase polymerase-alpha.primase template affinity and stimulate both DNA primase and polymerase-alpha activities
  • can localize to telomeres in human cells and bind to telomeric single-stranded DNA
  • represents a new player in the telomere interactome for telomere maintenance
  • regulates telomere length and/or function
  • 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
  • potential role in promoting efficient replication of lagging-strand telomeric DNA
  • potentially assists DNA polymerases to efficiently duplicate lagging-strand telomeres in order to achieve complete synthesis of telomeric DNA, therefore preventing rapid telomere loss
  • OBFC1/CST participates in two mechanistically separate steps during telomere replication and identify CST as a replication factor that solves diverse replication-associated problems
  • 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
  • OBFC1 and CTC1 formed an AAF complex
  • CTC1 forms with OBFC1 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
  • interacting with TPP1 (TPP1 can associate with OB fold-containing protein, OBFC1/AAF44)
    • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional     --low  
    induces catastrophic telomere shortening, DNA damage response, and early senescence in human somatic cells
    Susceptibility to variation of leukocyte telomere length
    Variant & Polymorphism SNP rs4387287 associated with variation of leukocyte telomere length
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS