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POT1 Gene

protein-coding   GIFtS: 59
GCID: GC07M124462

Protection Of Telomeres 1

(Previous name: protection of telomeres 1 homolog (S. pombe))
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Protection Of Telomeres 11 2     Protection Of Telomeres 1 Homolog2
POT1-Like Telomere End-Binding Protein2 3     Protection Of Telomeres Protein 12
Protection Of Telomeres 1 Homolog (S. Pombe)1     hPot13
HPOT12     

External Ids:    HGNC: 172841   Entrez Gene: 259132   Ensembl: ENSG000001285137   OMIM: 6064785   UniProtKB: Q9NUX53   

Export aliases for POT1 gene to outside databases

Previous GC identifers: GC07M122941 GC07M124003 GC07M124017 GC07M124016 GC07M124057 GC07M124250 GC07M118827


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for POT1 Gene:
This gene is a member of the telombin family and encodes a nuclear protein involved in telomere maintenance.
Specifically, this protein functions as a member of a multi-protein complex that binds to the TTAGGG repeats of
telomeres, regulating telomere length and protecting chromosome ends from illegitimate recombination,
catastrophic chromosome instability, and abnormal chromosome segregation. Increased transcriptional expression of
this gene is associated with stomach carcinogenesis and its progression. Alternatively spliced transcript
variants have been described. (provided by RefSeq, Jul 2008)

GeneCards Summary for POT1 Gene:
POT1 (protection of telomeres 1) is a protein-coding gene. Diseases associated with POT1 include b-cell chronic lymphocytic leukemia, and dyskeratosis congenita. GO annotations related to this gene include single-stranded telomeric DNA binding and telomerase inhibitor activity.

UniProtKB/Swiss-Prot: POTE1_HUMAN, Q9NUX5
Function: Component of the telomerase ribonucleoprotein (RNP) complex that is essential for the replication of
chromosome termini. Is a component of the double-stranded telomeric DNA-binding TRF1 complex which is involved in
the regulation of telomere length by cis-inhibition of telomerase. Also acts as a single-stranded telomeric
DNA-binding protein and thus may act as a downstream effector of the TRF1 complex and may transduce information
about telomere maintenance and/or length to the telomere terminus. Component of the shelterin complex (telosome)
that is involved in the regulation of telomere length and protection. Shelterin associates with arrays of
double-stranded TTAGGG repeats added by telomerase and protects chromosome ends; without its protective activity,
telomeres are no longer hidden from the DNA damage surveillance and chromosome ends are inappropriately processed
by DNA repair pathways. Binds to two or more telomeric single-stranded 5'-TTAGGG-3' repeats (G-strand) and with
high specificity to a minimal telomeric single-stranded 5'-TAGGGTTAG-3' sequence. Binds telomeric single-stranded
sequences internally or at proximity of a 3'-end. Its activity is TERT dependent but it does not increase TERT
activity by itself. In contrast, the ACD-POT1 heterodimer enhances telomere elongation by increasing telomerase
processivity

Gene Wiki entry for POT1 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000007.14  NT_007933.16  NC_018918.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the POT1 gene promoter:
         Evi-1   GATA-1   GATA-2   POU2F1   POU2F1b   POU2F1a   Cart-1   FOXO1a   POU2F1c   FOXO1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 3): POT1 promoter sequence
   Search Chromatin IP Primers for POT1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat POT1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 7q31.33   Ensembl cytogenetic band:  7q31.33   HGNC cytogenetic band: 7q31.33

POT1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
POT1 gene location

GeneLoc information about chromosome 7         GeneLoc Exon Structure

GeneLoc location for GC07M124462:  view genomic region     (about GC identifiers)

Start:
124,462,440 bp from pter      End:
124,570,037 bp from pter
Size:
107,598 bases      Orientation:
minus strand

1 alternative location:
Chr7-,CRA_TCAG 123,851,834-123,959,412     
ORGUL member locations:
Legend (see complete legend)

ORGUL Member Locations for POT1

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: POTE1_HUMAN, Q9NUX5 (See protein sequence)
Recommended Name: Protection of telomeres protein 1  
Size: 634 amino acids; 71442 Da
Subunit: Homodimer or homooligomer. Component of the shelterin complex (telosome) composed of TERF1, TERF2, TINF2,
TERF2IP, ACD and POT1. Binds single-stranded telomeric DNA as a monomer (By similarity). Component of the
telomerase holoenzyme complex at least composed of TERT, DKC1, WRAP53/TCAB1, NOP10, NHP2, GAR1, TEP1, EST1A, POT1
and a telomerase RNA template component (TERC). Found in a complex with TERF1, TINF2 and TNKS1. Interacts with
TNKS1. Forms heterodimers with ACD. Identified in a complex with ACD and single-stranded telomeric DNA
Sequence caution: Sequence=BAB15404.1; Type=Erroneous initiation;
3 PDB 3D structures from and Proteopedia for POT1:
1XJV (3D)        3KJO (3D)        3KJP (3D)    
Secondary accessions: O95018 Q5MJ36 Q9H662 Q9NW19 Q9UG95
Alternative splicing: 2 isoforms:  Q9NUX5-1   Q9NUX5-2   

Explore the universe of human proteins at neXtProt for POT1: NX_Q9NUX5

Explore proteomics data for POT1 at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys469
  • Modification sites at PhosphoSitePlus

  • See POT1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_001036059.1  NP_056265.2  

    ENSEMBL proteins: 
     ENSP00000397632   ENSP00000350249   ENSP00000416820   ENSP00000476981   ENSP00000476506  
     ENSP00000476371   ENSP00000477320   ENSP00000476673   ENSP00000476290   ENSP00000403088  
     ENSP00000388921   ENSP00000477258   ENSP00000377002  
    Reactome Protein details: Q9NUX5

    POT1 Human Recombinant Protein Products:

    Browse Purified and Recombinant Proteins at EMD Millipore
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    OriGene Purified Protein for POT1
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    OriGene MassSpec for POT1
    OriGene Custom Protein Services for POT1
    GenScript Custom Purified and Recombinant Proteins Services for POT1
    Novus Biologicals POT1 Proteins
    Novus Biologicals POT1 Lysate
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for POT1

    POT1 Antibody Products:

    Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
    R&D Systems Antibodies for POT1
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    Novus Biologicals POT1 Antibodies
    Search for Antibodies for POT1 at Abcam
    Cloud-Clone Corp. Antibodies for POT1
    ThermoFisher Antibodies for POT1
    LSBio Antibodies in human, mouse, rat for POT1

    POT1 Assay Products:

    Browse Kits and Assays available from EMD Millipore
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    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for POT1
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for POT1
    Cloud-Clone Corp. CLIAs for POT1


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    3 InterPro protein domains:
     IPR028389 POT1
     IPR012340 NA-bd_OB-fold
     IPR011564 Telomer_end-bd_POT1/Cdc13

    Graphical View of Domain Structure for InterPro Entry Q9NUX5

    ProtoNet protein and cluster: Q9NUX5

    1 Blocks protein domain: IPB011564 Telomere end binding protein

    UniProtKB/Swiss-Prot: POTE1_HUMAN, Q9NUX5
    Similarity: Belongs to the telombin family


    POT1 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: POTE1_HUMAN, Q9NUX5
    Function: Component of the telomerase ribonucleoprotein (RNP) complex that is essential for the replication of
    chromosome termini. Is a component of the double-stranded telomeric DNA-binding TRF1 complex which is involved in
    the regulation of telomere length by cis-inhibition of telomerase. Also acts as a single-stranded telomeric
    DNA-binding protein and thus may act as a downstream effector of the TRF1 complex and may transduce information
    about telomere maintenance and/or length to the telomere terminus. Component of the shelterin complex (telosome)
    that is involved in the regulation of telomere length and protection. Shelterin associates with arrays of
    double-stranded TTAGGG repeats added by telomerase and protects chromosome ends; without its protective activity,
    telomeres are no longer hidden from the DNA damage surveillance and chromosome ends are inappropriately processed
    by DNA repair pathways. Binds to two or more telomeric single-stranded 5'-TTAGGG-3' repeats (G-strand) and with
    high specificity to a minimal telomeric single-stranded 5'-TAGGGTTAG-3' sequence. Binds telomeric single-stranded
    sequences internally or at proximity of a 3'-end. Its activity is TERT dependent but it does not increase TERT
    activity by itself. In contrast, the ACD-POT1 heterodimer enhances telomere elongation by increasing telomerase
    processivity

         Gene Ontology (GO): 5 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003677DNA binding ----
    GO:0005515protein binding IPI12768206
    GO:0010521telomerase inhibitor activity IDA15632080
    GO:0017151DEAD/H-box RNA helicase binding IPI16030011
    GO:0043047single-stranded telomeric DNA binding IMP12768206
         
    POT1 for ontologies           About GeneDecksing


    Phenotypes:
         4 MGI mutant phenotypes (inferred from 5 alleles(MGI details for Pot1a):
     cellular  embryogenesis  mortality/aging  no phenotypic analysis 

    POT1 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-outs for POT1: Pot1atm1.1Schg Pot1atm1Tdl

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for POT1
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for POT1

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for POT1
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for POT1

    miRNA
    Products:
        
    Block miRNA regulation of human, mouse, rat POT1 using miScript Target Protectors
    5 qRT-PCR Assays for microRNAs that regulate POT1:
    hsa-miR-433 hsa-miR-141 hsa-miR-200a hsa-miR-4263 hsa-miR-3714
    SwitchGear 3'UTR luciferase reporter plasmidPOT1 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for POT1
    Predesigned siRNA for gene silencing in human, mouse, rat POT1

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for POT1

    Clone
    Products:
         
    OriGene clones in human, mouse for POT1 (see all 12)
    OriGene ORF clones in mouse, rat for POT1
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 2): POT1 (NM_001042594)
    Sino Biological Human cDNA Clone for POT1
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for POT1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat POT1

    Cell Line
    Products:
         
    GenScript Custom overexpressing Cell Line Services for POT1
    Browse ESI BIO Cell Lines and PureStem Progenitors for POT1 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for POT1


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    POTE1_HUMAN, Q9NUX5: Nucleus. Chromosome, telomere. Note=Colocalizes with telomeric DNA
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus5
    cytosol2
    golgi apparatus1
    lysosome1
    peroxisome1

    Gene Ontology (GO): Selected cellular component terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000781chromosome, telomeric region IDA12768206
    GO:0000783nuclear telomere cap complex IDA16880378
    GO:0000784nuclear chromosome, telomeric region ----
    GO:0005634nucleus IDA--
    GO:0005654nucleoplasm TAS--

    POT1 for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for POT1 About   (see all 7)  
    See pathways by source

    SuperPathContained pathways About
    1Packaging Of Telomere Ends
    Packaging Of Telomere Ends0.66
    Telomere Maintenance0.64
    Meiotic Synapsis0.66
    Chromosome Maintenance0.62
    DNA Damage/Telomere Stress Induced Senescence0.65
    2Cellular Senescence
    Cellular Senescence0.81
    Cellular responses to stress0.81
    3Cell Cycle, Mitotic
    Cell Cycle0.90
    4Meiosis (REACTOME)
    Meiosis0.74
    5Apoptotic Pathways in Synovial Fibroblasts
    Telomerase Components in Cell Signaling0.72

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    2 Downloadable PowerPoint Slides of GeneGlobe Pathway Central Maps for POT1
        Telomerase Components in Cell Signaling
    Telomere Extension by Telomerase

    1 BioSystems Pathway for POT1
        Regulation of Telomerase


    3 Reactome Pathways for POT1
        Packaging Of Telomere Ends
    Meiotic synapsis
    DNA Damage/Telomere Stress Induced Senescence



    POT1 for pathways           About GeneDecksing

        Pathway & Disease-focused RT2 Profiler PCR Array including POT1: 
              Telomeres & Telomerase in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for POT1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for POT1 (Q9NUX51, 2, 3 ENSP000003502494) via UniProtKB, MINT, STRING, and/or I2D (see all 242)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ACDQ96AP01, 2, 3, ENSP000003774964EBI-752420,EBI-717666 MINT-68476 I2D: score=6 STRING: ENSP00000377496
    TERF2Q155541, 3, ENSP000002549424EBI-752420,EBI-706637 I2D: score=2 STRING: ENSP00000254942
    TERF1P542743, ENSP000002766034I2D: score=3 STRING: ENSP00000276603
    TNKSO952713, ENSP000003115794I2D: score=2 STRING: ENSP00000311579
    ABCD1P338973, ENSP000002181044I2D: score=1 STRING: ENSP00000218104
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 11):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000723telomere maintenance TAS--
    GO:0007004telomere maintenance via telomerase IDA12768206
    GO:0016233telomere capping IMP15657433
    GO:0032203telomere formation via telomerase IDA16043710
    GO:0032211negative regulation of telomere maintenance via telomerase IMP15181449

    POT1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for POT1 (POTE1)

    2 Novoseek inferred chemical compound relationships for POT1 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    tin(2+) 98.4 31 17562870 (5), 15316005 (4), 15383534 (3), 15231715 (2) (see all 17)
    oligonucleotide 34.9 2 18329362 (1), 19648609 (1)



    POT1 for compounds           About GeneDecksing



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for POT1 gene (2 alternative transcripts): 
    NM_001042594.1  NM_015450.2  

    Unigene Cluster for POT1:

    Protection of telomeres 1
    Hs.31968  [show with all ESTs]
    Unigene Representative Sequence: NR_003102
    Selected Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 19):
    ENST00000430927 ENST00000357628(uc011koe.2 uc003vlk.3 uc003vll.3 uc003vlm.3 uc003vln.3)
    ENST00000436534 ENST00000609106 ENST00000607932 ENST00000608057 ENST00000608200
    ENST00000466483 ENST00000610141 ENST00000608126 ENST00000487564 ENST00000429326
    ENST00000446993 ENST00000609702 ENST00000608261 ENST00000608437 ENST00000461288
    ENST00000464453
    miRNA
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    5 qRT-PCR Assays for microRNAs that regulate POT1:
    hsa-miR-433 hsa-miR-141 hsa-miR-200a hsa-miR-4263 hsa-miR-3714
    SwitchGear 3'UTR luciferase reporter plasmidPOT1 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat POT1
    Clone
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    OriGene clones in human, mouse for POT1 (see all 12)
    OriGene ORF clones in mouse, rat for POT1
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 2): POT1 (NM_001042594)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for POT1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat POT1
    Primer
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    OriGene qPCR primer pairs and template standards for POT1
    OriGene qSTAR qPCR primer pairs in human, mouse for POT1
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat POT1
      QuantiTect SYBR Green Assays in human, mouse, rat POT1
      QuantiFast Probe-based Assays in human, mouse, rat POT1

    Additional mRNA sequence: 

    AK001230.1 AK001935.1 AK022580.1 AK026234.1 AL050120.1 AY823520.1 AY823523.1 BC002923.2 
    NR_003102.1 NR_003103.1 NR_003104.1 

    16 DOTS entries:

    DT.311738  DT.99933076  DT.95175561  DT.95166285  DT.100819103  DT.100819101  DT.92431182  DT.100653783 
    DT.100819100  DT.100819102  DT.100819104  DT.121101384  DT.86839274  DT.91860878  DT.92431185  DT.99949106 

    Selected AceView cDNA sequences (see all 125):

    CB068774 BG219819 BQ948305 BC002923 CB070041 AK022580 AL050120 CB126116 
    BU153119 AW673134 AW079539 CK430513 AL041795 AU124189 AK001935 AA789127 
    CB068781 BM464807 BM740178 AA463388 BQ959401 AL555074 BQ424166 CB134156 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for POT1 (see all 8)    About this scheme

    ExUns: 1 ^ 2a · 2b ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9a · 9b ^ 10 ^ 11a · 11b ^ 12 ^ 13 ^ 14a · 14b ^ 15a · 15b ^ 16 ^ 17 ^ 18 ^ 19 ^ 20 ^ 21a ·
    SP1:                                                                                      -           -                       -                                 
    SP2:                                                                                                  -                       -                                 
    SP3:                                                                                      -           -                                                         
    SP4:                                                                                      -           -                       -           -                     
    SP5:                                            -                                                                                                               

    ExUns: 21b
    SP1:      
    SP2:      
    SP3:      
    SP4:      
    SP5:      


    ECgene alternative splicing isoforms for POT1

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    POT1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GTTTTATTGC
    POT1 Expression
    About this image

    POT1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    POT1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.31968

    UniProtKB/Swiss-Prot: POTE1_HUMAN, Q9NUX5
    Tissue specificity: Ubiquitous

        Pathway & Disease-focused RT2 Profiler PCR Array including POT1: 
              Telomeres & Telomerase in human mouse rat

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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of chordates.

    Orthologs for POT1 gene from Selected species (see all 12)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Pot1a1 , 5 protection of telomeres 1A1, 5 78.86(n)1
    75.71(a)1
      6 (11.65 cM)5
    1011851  NM_133931.41  NP_598692.11 
     257437375 
    chicken
    (Gallus gallus)
    Aves POT11 protection of telomeres 1 homolog (S. pombe) 67.46(n)
    60.61(a)
      404538  NM_206992.1  NP_996875.1 
    lizard
    (Anolis carolinensis)
    Reptilia POT16
    protection of telomeres 1
    43(a)
    1 ↔ 1
    5(66751848-66836474)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia AL901193.22   -- 74.86(n)    AL901193.2 
    zebrafish
    (Danio rerio)
    Actinopterygii pot11 protection of telomeres 1 homolog 49.16(n)
    38.34(a)
      566847  NM_001245960.1  NP_001232889.1 


    ENSEMBL Gene Tree for POT1 (if available)
    TreeFam Gene Tree for POT1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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      --

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for POT1 (see all 2069)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 7 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs560456191,2
    C--118935470(+) TTTAT-/TATAGTTT 5 -- us2k12Minor allele frequency- TAT:0.25NA 4
    rs1397263641,2
    C--123854304(+) GAAAC-/TAGT  
            
    TAACA
    5 -- int10--------
    rs3696496211,2
    C--123864694(+) ATAAT-/AAACA/A
    AACAAAACA
    AAACA
    5 -- int10--------
    rs1427804161,2
    C--123864695(+) ATAAT-/AAACA 
            
    AAACA
    5 -- int10--------
    rs339564521,2
    C--123874207(+) AAAAA-/A/A   
       A
    /AAA
    GGCCA
    7 -- int1 cds12NA 4
    rs2002701441,2
    --123876704(+) ACTTC-/GGGAGG 5 -- int10--------
    rs102356571,2
    C,F,H--123876707(+) TTCGGG/AGGACT 5 -- int11Minor allele frequency- A:0.31NA 120
    rs102683721,2
    C,H--123876708(+) TCGGAA/GGACTG 5 -- int12Minor allele frequency- G:0.35NA 122
    rs773042111,2
    C,F--123880364(+) AAAAAA/CAAAAA 5 -- int11Minor allele frequency- C:0.05WA 118
    rs732235481,2
    C,F--123880367(+) AAAAAA/CAACAA 5 -- int13Minor allele frequency- C:0.25WA CSA 122

    HapMap Linkage Disequilibrium report for POT1 (124462440 - 124570037 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 5 variations for POT1:    About this table    
    Variant IDTypeSubtypePubMed ID
    dgv7476n71CNV Loss21882294
    nsv889136CNV Loss21882294
    dgv7475n71CNV Loss21882294
    nsv824297CNV Gain20364138
    nsv525729CNV Gain19592680

    Human Gene Mutation Database (HGMD): POT1
    Site Specific Mutation Identification with PCR Assays
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 606478    OMIM disorders: --

    17 diseases for POT1:    
    About MalaCards
    b-cell chronic lymphocytic leukemia    dyskeratosis congenita    bloom syndrome    werner syndrome
    giant cell tumor    cerebrovascular disease    adult t-cell leukemia    lung cancer susceptibility
    t-cell leukemia    laryngitis    chronic lymphocytic leukemia    acute myeloid leukemia
    leukemia    myeloid leukemia    lung cancer    sarcoma
    breast cancer


    POT1 for disorders           About GeneDecksing

    3 Novoseek inferred disease relationships for POT1 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    chromosomal aberrations 35.2 1 19596811 (1)
    cancer 33.5 4 18922974 (1), 15181449 (1), 18975896 (1)
    tumors 0 8 14744765 (2), 18720522 (1), 17020976 (1), 17932567 (1)

    Genetic Association Database (GAD): POT1
    Human Genome Epidemiology (HuGE) Navigator: POT1 (13 documents)

    Export disorders for POT1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for POT1 gene, integrated from 10 sources (see all 104):
    (articles sorted by number of sources associating them with POT1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Human Pot1 (protection of telomeres) protein: cytolocalization, gene structure, and alternative splicing. (PubMed id 12391173)1, 2, 3, 9 Baumann P.... Cech T.R. (Mol. Cell. Biol. 2002)
    2. Pot1, the putative telomere end-binding protein in fission yeast and humans. (PubMed id 11349150)1, 2, 3 Baumann P. and Cech T.R. (Science 2001)
    3. Human POT1 facilitates telomere elongation by telomerase. (PubMed id 12781132)1, 2, 9 Colgin L.M.... Reddel R.R. (Curr. Biol. 2003)
    4. POT1-interacting protein PIP1: a telomere length regulator that recruits POT1 to the TIN2/TRF1 complex. (PubMed id 15231715)1, 2, 9 Ye J.Z.-S.... de Lange T. (Genes Dev. 2004)
    5. TIN2 binds TRF1 and TRF2 simultaneously and stabilizes the TRF2 complex on telomeres. (PubMed id 15316005)1, 2, 9 Ye J.Z.-S.... de Lange T. (J. Biol. Chem. 2004)
    6. The POT1-TPP1 telomere complex is a telomerase processivity factor. (PubMed id 17237768)1, 2, 9 Wang F.... Lei M. (Nature 2007)
    7. Telosome, a mammalian telomere-associated complex formed by multiple telomeric proteins. (PubMed id 15383534)1, 2, 9 Liu D.... Songyang Z. (J. Biol. Chem. 2004)
    8. Shelterin: the protein complex that shapes and safeguards human telomeres. (PubMed id 16166375)1, 2, 9 de Lange T. (Genes Dev. 2005)
    9. Polymorphisms in telomere maintenance genes and risk of lung cancer. (PubMed id 19773453)1, 4, 9 Choi J.E....Park J.Y. (amp 2009)
    10. Polymorphisms in telomere-associated genes, breast cancer susceptibility and prognosis. (PubMed id 19766477)1, 4, 9 Varadi V....FAPrsti A. (Eur. J. Cancer 2009)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 25913 HGNC: 17284 AceView: POT1 Ensembl:ENSG00000128513 euGenes: HUgn25913
    ECgene: POT1 H-InvDB: POT1

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for POT1 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for POT1 gene:
    Search GeneIP for patents involving POT1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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