Human Gene POT1 (ENST00000357628.8_8) from GENCODE V47lift37
  Description: protection of telomeres 1, transcript variant 5 (from RefSeq NR_003104.2)
Gencode Transcript: ENST00000357628.8_8
Gencode Gene: ENSG00000128513.16_15
Transcript (Including UTRs)
   Position: hg19 chr7:124,462,440-124,569,879 Size: 107,440 Total Exon Count: 19 Strand: -
Coding Region
   Position: hg19 chr7:124,464,016-124,537,227 Size: 73,212 Coding Exon Count: 15 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesGeneReviewsModel Information
Methods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr7:124,462,440-124,569,879)mRNA (may differ from genome)Protein (634 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
HGNCMalacardsMGIOMIMPubMedReactome
UniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: POTE1_HUMAN
DESCRIPTION: RecName: Full=Protection of telomeres protein 1; Short=hPot1; AltName: Full=POT1-like telomere end-binding protein;
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.
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.
INTERACTION: Q96AP0:ACD; NbExp=3; IntAct=EBI-752420, EBI-717666; Q15554:TERF2; NbExp=3; IntAct=EBI-752420, EBI-706637;
SUBCELLULAR LOCATION: Nucleus. Chromosome, telomere. Note=Colocalizes with telomeric DNA.
TISSUE SPECIFICITY: Ubiquitous.
SIMILARITY: Belongs to the telombin family.
SEQUENCE CAUTION: Sequence=BAB15404.1; Type=Erroneous initiation;

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: POT1
Diseases sorted by gene-association score: melanoma, cutaneous malignant 10* (905), glioma susceptibility 9* (875), chronic lymphocytic leukemia* (181), pot1-related susceptibility to cutaneous malignant melanoma* (100), anaplastic oligodendroglioma* (18), malignant melanoma, somatic* (13), glioma (9), oligodendroglioma* (7), dyskeratosis congenita (6), melanoma (3)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 9.89 RPKM in Cells - EBV-transformed lymphocytes
Total median expression: 184.87 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -87.30443-0.197 Picture PostScript Text
3' UTR -347.101576-0.220 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR012340 - NA-bd_OB-fold
IPR016027 - NA-bd_OB-fold-like
IPR011564 - Telomer_end-bd

Pfam Domains:
PF02765 - Telomeric single stranded DNA binding POT1/CDC13
PF16686 - ssDNA-binding domain of telomere protection protein

SCOP Domains:
50249 - Nucleic acid-binding proteins

Protein Data Bank (PDB) 3-D Structure
MuPIT help
1XJV - X-ray MuPIT 3KJO - X-ray MuPIT 3KJP - X-ray MuPIT


ModBase Predicted Comparative 3D Structure on Q9NUX5
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The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
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-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0003677 DNA binding
GO:0005515 protein binding
GO:0010521 telomerase inhibitor activity
GO:0017151 DEAD/H-box RNA helicase binding
GO:0042162 telomeric DNA binding
GO:0043047 single-stranded telomeric DNA binding
GO:0061821 telomeric D-loop binding
GO:0098505 G-rich strand telomeric DNA binding
GO:1905773 8-hydroxy-2'-deoxyguanosine DNA binding
GO:1990955 G-rich single-stranded DNA binding

Biological Process:
GO:0000723 telomere maintenance
GO:0007004 telomere maintenance via telomerase
GO:0016233 telomere capping
GO:0032202 telomere assembly
GO:0032210 regulation of telomere maintenance via telomerase
GO:0032211 negative regulation of telomere maintenance via telomerase
GO:0032212 positive regulation of telomere maintenance via telomerase
GO:0032508 DNA duplex unwinding
GO:0051096 positive regulation of helicase activity
GO:0051973 positive regulation of telomerase activity
GO:0051974 negative regulation of telomerase activity
GO:0060383 positive regulation of DNA strand elongation
GO:0061820 telomeric D-loop disassembly
GO:0070200 establishment of protein localization to telomere
GO:1905774 regulation of DNA helicase activity
GO:1905776 positive regulation of DNA helicase activity

Cellular Component:
GO:0000781 chromosome, telomeric region
GO:0000783 nuclear telomere cap complex
GO:0000784 nuclear chromosome, telomeric region
GO:0005634 nucleus
GO:0005654 nucleoplasm
GO:0005694 chromosome
GO:0070187 telosome


-  Descriptions from all associated GenBank mRNAs
  LF384084 - JP 2014500723-A/191587: Polycomb-Associated Non-Coding RNAs.
AK001230 - Homo sapiens cDNA FLJ10368 fis, clone NT2RM2001544.
AK302263 - Homo sapiens cDNA FLJ58706 complete cds, highly similar to Protection of telomeres 1.
AK001935 - Homo sapiens cDNA FLJ11073 fis, clone PLACE1005026.
BC002923 - Homo sapiens POT1 protection of telomeres 1 homolog (S. pombe), mRNA (cDNA clone MGC:10280 IMAGE:3955573), complete cds.
AK022580 - Homo sapiens cDNA FLJ12518 fis, clone NT2RM2001805.
AY823520 - Homo sapiens protection of telomeres protein 1 variant 1 mRNA, complete cds, alternatively spliced.
AY823521 - Homo sapiens protection of telomeres protein 1 variant 2 mRNA, complete cds, alternatively spliced.
AY823522 - Homo sapiens protection of telomeres protein 1 variant 3 mRNA, complete cds, alternatively spliced.
AY823524 - Homo sapiens protection of telomeres protein 1 variant 5 mRNA, complete cds, alternatively spliced.
DQ892765 - Synthetic construct clone IMAGE:100005395; FLH189474.01X; RZPDo839F0774D POT1 protection of telomeres 1 homolog (S. pombe) (POT1) gene, encodes complete protein.
KJ893490 - Synthetic construct Homo sapiens clone ccsbBroadEn_02884 POT1 gene, encodes complete protein.
DQ896010 - Synthetic construct Homo sapiens clone IMAGE:100010470; FLH189470.01L; RZPDo839F0764D POT1 protection of telomeres 1 homolog (S. pombe) (POT1) gene, encodes complete protein.
AY823523 - Homo sapiens protection of telomeres protein 1 variant 4 mRNA, complete cds, alternatively spliced.
MA619661 - JP 2018138019-A/191587: Polycomb-Associated Non-Coding RNAs.
AL050120 - Homo sapiens mRNA; cDNA DKFZp586D211 (from clone DKFZp586D211).
JD561701 - Sequence 542725 from Patent EP1572962.
CQ873776 - Sequence 195 from Patent WO2004076622.
DD413613 - Regulation of Mammalian Cells.
CQ873765 - Sequence 184 from Patent WO2004076622.
DD413602 - Regulation of Mammalian Cells.
JD284510 - Sequence 265534 from Patent EP1572962.
AK026234 - Homo sapiens cDNA: FLJ22581 fis, clone HSI02573.
LF360551 - JP 2014500723-A/168054: Polycomb-Associated Non-Coding RNAs.
JD112565 - Sequence 93589 from Patent EP1572962.
JD155104 - Sequence 136128 from Patent EP1572962.
JD256310 - Sequence 237334 from Patent EP1572962.
JD243855 - Sequence 224879 from Patent EP1572962.
JD428684 - Sequence 409708 from Patent EP1572962.
LF360552 - JP 2014500723-A/168055: Polycomb-Associated Non-Coding RNAs.
MA596128 - JP 2018138019-A/168054: Polycomb-Associated Non-Coding RNAs.
MA596129 - JP 2018138019-A/168055: Polycomb-Associated Non-Coding RNAs.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein Q9NUX5 (Reactome details) participates in the following event(s):

R-HSA-176700 Incorporation Of Extended And Processed Telomere End Into Higher Order T-Loop And Associated Protein Structure
R-HSA-181450 Incorporation Of Extended And Processed Telomere End Into Associated Protein Structure
R-HSA-171306 Packaging Of Telomere Ends
R-HSA-2559586 DNA Damage/Telomere Stress Induced Senescence
R-HSA-1221632 Meiotic synapsis
R-HSA-157579 Telomere Maintenance
R-HSA-2559583 Cellular Senescence
R-HSA-1500620 Meiosis
R-HSA-73886 Chromosome Maintenance
R-HSA-2262752 Cellular responses to stress
R-HSA-1474165 Reproduction
R-HSA-1640170 Cell Cycle
R-HSA-8953897 Cellular responses to external stimuli

-  Other Names for This Gene
  Alternate Gene Symbols: ENST00000357628.1, ENST00000357628.2, ENST00000357628.3, ENST00000357628.4, ENST00000357628.5, ENST00000357628.6, ENST00000357628.7, NR_003104, O95018, POTE1_HUMAN, Q5MJ36, Q9H662, Q9NUX5, Q9NW19, Q9UG95, uc318adr.1, uc318adr.2
UCSC ID: ENST00000357628.8_8
RefSeq Accession: NM_015450.3
Protein: Q9NUX5 (aka POTE1_HUMAN or POTE_HUMAN)

-  GeneReviews for This Gene
  GeneReviews article(s) related to gene POT1:
dkc (Dyskeratosis Congenita and Related Telomere Biology Disorders)
pot1-tpd (POT1 Tumor Predisposition)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.