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FLASH GENE
Symbol POT1 contributors: mct - updated : 19-02-2018
HGNC name protection of telomeres 1 homolog (S. pombe)
HGNC id 17284
Location 7q31.33      Physical location : 124.462.440 - 124.570.037
Synonym name
  • POT1-like telomere end-binding protein
  • protection of telomeres 1
  • telomeric single-strand DNA-binding protein
  • Synonym symbol(s) DKFZp586D211, POT1A
    DNA
    TYPE functioning gene
    STRUCTURE 107.60 kb     19 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status provisional
    Physical map
    WNT16 7q31 wingless-type MMTV integration site family, member 16 FAM3C 7q22.1-q31.1 family with sequence similarity 3, member C HCP19 7q31.32 cytochrome c, somatic pseudogene LOC136143 7q31.32 similar to ribosomal protein L18; 60S ribosomal protein L18 PTPRZ1 7q31.3 protein tyrosine phosphatase, receptor-type, Z polypeptide 1 AASS 7q31.3 aminoadipate-semialdehyde synthase LOC389549 7 similar to zinc finger protein 312; forebrain embryonic zinc finger CADPS2 7q31.1 Ca2+-dependent activator protein for secretion 2 RNF133 7q31.33 ring finger protein 133 RNF148 7q31.33 ring finger protein 148 TAS2R16 7q31.1-q31.3 taste receptor, type 2, member 16 SLC13A1 7q31-q32 solute carrier family 13 (sodium/sulfate symporters), member 1 FLJ35834 7q31.33 hypothetical protein FLJ35834 NDUFA5 7q31.33 NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 5, 13kDa ASB15 7q31.31 ankyrin repeat and SOCS box-containing 15 LOC389550 7 similar to cardiac leiomodin WASL 7q31.3 Wiskott-Aldrich syndrome-like HYAL4 7q31.3 hyaluronoglucosaminidase 4 SPAM1 7q31.3 sperm adhesion molecule 1 (PH-20 hyaluronidase, zona pellucida binding) LOC340344 7q31.33 similar to RIKEN cDNA 6332401O19 gene LOC136157 7q31.33 similar to RIKEN cDNA 1500011L16 LOC346643 7q31.33 similar to 40S ribosomal protein S2 GPR37 7q31 G protein-coupled receptor 37 (endothelin receptor type B-like) LOC154872 7q31.33 hypothetical LOC154872 POT1 7q31.33 protection of telomeres 1 LOC392094 7 similar to Elongation factor 1-gamma (EF-1-gamma) (eEF-1B gamma) (PRO1608) GRM8 7q31.3-q32.1 glutamate receptor, metabotropic 8 LOC346646 7q32.2 similar to Protein C20orf45 (CGI-107) LOC168850 7q32.2 hypothetical protein LOC168850 GCC1 7q22.3 golgi coiled-coil 1 ARF5 7q31.3 ADP-ribosylation factor 5 FSCN3 7q31.3 fascin homolog 3, actin-bundling protein, testicular (Strongylocentrotus purpuratus) PAX4 7q32 paired box gene 4 SND1 7q31.3 paired box gene 4 NSG-X 7q31 brain and nasopharyngeal carcinoma susceptibility protein LRRC4 7q31 leucine rich repeat containing 4 LEP 7q31.3 leptin (obesity homolog, mouse) MGC27345 7q32.2 hypothetical protein MGC27345 FLJ10377 7q32.2 hypothetical protein FLJ10377 LOC389551 7 hypothetical gene supported by BC063892
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    19 splicing 4095 71.3 634 - 2008 18066078
    isoform 1
    - splicing 2036 - 340 - 2002 12391173
    - splicing 1827 - 518 - 2002 12391173
    18 splicing 3964 56.7 503 - 2008 18066078
    isoform 4
    - splicing 2014 - 459 - 2002 12391173
    EXPRESSION
    Type widely
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Endocrineneuroendocrinepituitary  highly
    Reproductivefemale systemuteruscervix highly
     male systemtestis  highly
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Blood / hematopoieticbone marrow   
    Nervousperipherous   
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • N-terminal DNA binding domain comprising two oligonucleotide/oligosaccharide-binding (OB) folds
  • a C-terminal domain that mediates the interaction with TPP1
  • mono polymer homomer , dimer , octamer
    HOMOLOGY
    interspecies ortholog to murine Pot1
    Homologene
    FAMILY
  • telombin family
  • CATEGORY regulatory
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm
    intracellular,nucleus
    text
  • POT1 alone localized in the cytoplasm but co-localized with FOXP2 and the forkhead domain of FOXP2 in nuclei
  • basic FUNCTION
  • acting as a terminal transducer of TERF1 telomere length control
  • playing a role in disrupting G-quadruplex structures in telomeric DNA, there by allowing proper elongation by telomerase
  • telomeric single-strand DNA binding protein protecting telomeres from rapid degradation and likely affecting substrate access to telomerase
  • functioning to mask an ATR-dependent DNA damage checkpoint from the single-stranded overhang
  • function independently of TERF2 to repress the activation of the ATM and ATR kinases at natural chromosome ends
  • required to prevent a telomere checkpoint mediated by another such protein, ATR, that is most likely triggered by the G-overhang
  • regulates telomere length and protects chromosome ends
  • ACD and POT1 function as a unit to protect human telomeres, by both positively and negatively regulating telomerase access to telomere DNA
  • required to hide telomeres from DNA damage surveillance
  • protects mammalian chromosome ends from the ATR-dependent DNA damage response, regulates telomerase-mediated telomere extension, and limits 5'-end resection at telomere termini
  • combines the features of murine Pot1a and Pot1b
  • is required for efficient telomere C-rich strand replication in the absence of WRN
  • crucial for restraining telomeric resection
  • With WRN, are required for efficient chromosome segregation
  • HNRNPA1, DMRT2 and POT1 act in concert to displace RPA1 from telomeric single-stranded DNA after DNA replication, and promote telomere capping to preserve genomic integrity
  • preferential recruitment of shelterin complex to areas of the telomere where ss- and ds-DNA are in close proximity, such as the 3prime-telomeric overhang, telomeric DNA bubbles and the D-loop at the base of T-loops
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
  • binding single-stranded telomeric DNA as a monomer, found in a complex with TERF1, TINF2 and TNKS1
  • complexing with ACD, TINF1, and TERF2IP to ensure proper maintenance of telomeres
  • part of telomere-specific complex, called shelterin
  • heterodimer with TPP1 (to modulate telomere structure and telomerase activity)
  • part of telomere-specific complex, called shelterin, including TERF1, TERF2, TERF2IP, TINF2, POT1
  • POT1-TPP1 enhances telomerase processivity in a manner markedly different from the sliding clamps used by DNA polymerases
  • part of Shelterin complex (TERF1, TERF2, POT1, TERF2IP, TINF2, and TPP1)
  • INTERACTION
    DNA
  • associating directly with either single-stranded telomeric DNA
  • RNA
    small molecule
    protein
  • TERF1 complex affecting the loading of POT1
  • TNKS1
  • interact with telomeres both through direct binding to the 3' overhanging G-strand DNA and through interaction with the TRF1 duplex telomere DNA binding complex
  • TPP1
  • stimulates WRN and BLM to unwind long telomeric forked duplexes and D-loop structures that are otherwise poor substrates for these helicases (resolving DNA structures at telomeric ends, in a manner that protects the telomeric 3' tail as it is exposed during unwinding)
  • binds ACD, the shelterin component that connects POT1 to the duplex telomeric DNA-binding proteins TERF1 and TERF2
  • associating with TPP1
  • interacting with TERF1, TERF2 and TPP1
  • POT1 is a FOXP2-associated protein (POT1 co-localized with FOXP2 and the forkhead domain of FOXP2 in nuclei)
  • TINF2 stabilize TPP1/POT1 on the ss telomeric DNA, thereby allowing effective exclusion of RPA and repression of ATR signaling
  • C-terminus (Yang 2009)
  • DAZAP1 regulates the splicing of CREM, CRISP2 and POT1 transcripts
  • APEX1 associates with TERF2 and POT1 in the cell
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral     --over  
    in gastric carcinoma, high grade
    constitutional       loss of function
    during G1 leading to rapid telomere erosion during the ensuing S/G2 period
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS