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Aliases for POT1 Gene

Aliases for POT1 Gene

  • Protection Of Telomeres 1 2 3
  • POT1-Like Telomere End-Binding Protein 3 4
  • HPOT1 3 4
  • Protection Of Telomeres 1 Homolog (S. Pombe) 2
  • Protection Of Telomeres 1 Homolog 3
  • Protection Of Telomeres Protein 1 3
  • CMM10 3

External Ids for POT1 Gene

Summaries for POT1 Gene

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 melanoma, cutaneous malignant 10 and chronic lymphocytic leukemia. Among its related pathways are Apoptotic Pathways in Synovial Fibroblasts and Cell Cycle, Mitotic. GO annotations related to this gene include telomerase inhibitor activity and single-stranded telomeric DNA binding.

UniProtKB/Swiss-Prot for POT1 Gene

  • 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

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for POT1 Gene

Genomics for POT1 Gene

Genomic Location for POT1 Gene

Start:
124,822,386 bp from pter
End:
124,929,983 bp from pter
Size:
107,598 bases
Orientation:
Minus strand

Genomic View for POT1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for POT1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for POT1 Gene

Regulatory Elements for POT1 Gene

Proteins for POT1 Gene

  • Protein details for POT1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9NUX5-POTE1_HUMAN
    Recommended name:
    Protection of telomeres protein 1
    Protein Accession:
    Q9NUX5
    Secondary Accessions:
    • O95018
    • Q5MJ36
    • Q9H662
    • Q9NW19
    • Q9UG95

    Protein attributes for POT1 Gene

    Size:
    634 amino acids
    Molecular mass:
    71442 Da
    Quaternary structure:
    • 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.
    SequenceCaution:
    • Sequence=BAB15404.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for POT1 Gene

    Alternative splice isoforms for POT1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for POT1 Gene

Proteomics data for POT1 Gene at MOPED

Post-translational modifications for POT1 Gene

  • Modification sites at PhosphoSitePlus
  • Ubiquitination at Lys469

No data available for DME Specific Peptides for POT1 Gene

Domains for POT1 Gene

Protein Domains for POT1 Gene

UniProtKB/Swiss-Prot:

POTE1_HUMAN
Family:
  • Belongs to the telombin family.:
    • Q9NUX5
genes like me logo Genes that share domains with POT1: view

No data available for Gene Families for POT1 Gene

Function for POT1 Gene

Molecular function for POT1 Gene

UniProtKB/Swiss-Prot 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) - Molecular Function for POT1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003677 DNA binding --
GO:0005515 protein binding IPI 12768206
GO:0010521 telomerase inhibitor activity IDA 15632080
GO:0017151 DEAD/H-box RNA helicase binding IPI 16030011
GO:0043047 single-stranded telomeric DNA binding IMP 12768206
genes like me logo Genes that share ontologies with POT1: view
genes like me logo Genes that share phenotypes with POT1: view

Animal Models for POT1 Gene

MGI Knock Outs for POT1:

No data available for Enzyme Numbers (IUBMB) , miRNA , Transcription Factor Targeting and HOMER Transcription for POT1 Gene

Localization for POT1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for POT1 Gene

Nucleus. Chromosome, telomere. Note=Colocalizes with telomeric DNA.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for POT1 Gene COMPARTMENTS Subcellular localization image for POT1 gene
Compartment Confidence
nucleus 5
cytosol 2
golgi apparatus 1
lysosome 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for POT1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000781 chromosome, telomeric region IDA 12768206
GO:0000783 nuclear telomere cap complex IDA 16880378
GO:0000784 nuclear chromosome, telomeric region --
GO:0005634 nucleus IDA --
GO:0005654 nucleoplasm TAS --
genes like me logo Genes that share ontologies with POT1: view

Pathways for POT1 Gene

genes like me logo Genes that share pathways with POT1: view

Pathways by source for POT1 Gene

Gene Ontology (GO) - Biological Process for POT1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000723 telomere maintenance TAS --
GO:0007004 telomere maintenance via telomerase IDA 12768206
GO:0016233 telomere capping IMP 15657433
GO:0032202 telomere assembly IDA 16043710
GO:0032203 telomere formation via telomerase --
genes like me logo Genes that share ontologies with POT1: view

Compounds for POT1 Gene

(2) Novoseek inferred chemical compound relationships for POT1 Gene

Compound -log(P) Hits PubMed IDs
tin(2+) 98.4 29
oligonucleotide 34.9 2
genes like me logo Genes that share compounds with POT1: view

Transcripts for POT1 Gene

Unigene Clusters for POT1 Gene

Protection of telomeres 1:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for POT1 Gene

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: -
SP6: -
SP7:
SP8:

ExUns: 21b
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:

Relevant External Links for POT1 Gene

GeneLoc Exon Structure for
POT1
ECgene alternative splicing isoforms for
POT1

Expression for POT1 Gene

mRNA expression in normal human tissues for POT1 Gene

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for POT1 Gene

SOURCE GeneReport for Unigene cluster for POT1 Gene Hs.31968

mRNA Expression by UniProt/SwissProt for POT1 Gene

Q9NUX5-POTE1_HUMAN
Tissue specificity: Ubiquitous.
genes like me logo Genes that share expressions with POT1: view

Orthologs for POT1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for POT1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia POT1 36
  • 99.42 (n)
  • 99.53 (a)
POT1 37
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia POT1 36
  • 87.43 (n)
  • 85.65 (a)
POT1 37
  • 68 (a)
OneToOne
dog
(Canis familiaris)
Mammalia POT1 36
  • 90.27 (n)
  • 89.27 (a)
POT1 37
  • 72 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Pot1a 36
  • 78.86 (n)
  • 75.71 (a)
Pot1a 16
Pot1a 37
  • 75 (a)
OneToMany
Pot1b 37
  • 71 (a)
OneToMany
oppossum
(Monodelphis domestica)
Mammalia POT1 37
  • 54 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia POT1 37
  • 50 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Pot1 36
  • 79.23 (n)
  • 76.68 (a)
chicken
(Gallus gallus)
Aves POT1 36
  • 67.46 (n)
  • 60.61 (a)
POT1 37
  • 45 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia POT1 37
  • 43 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia pot1 36
  • 61.61 (n)
  • 52.88 (a)
zebrafish
(Danio rerio)
Actinopterygii pot1 36
  • 49.16 (n)
  • 38.34 (a)
pot1 37
  • 28 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea CSA.10644 37
  • 29 (a)
OneToOne
Species with no ortholog for POT1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for POT1 Gene

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

Paralogs for POT1 Gene

No data available for Paralogs for POT1 Gene

Variants for POT1 Gene

Sequence variations from dbSNP and Humsavar for POT1 Gene

SNP ID Clin Chr 07 pos Sequence Context AA Info Type MAF
rs722560 -- 124,847,981(-) TTTCT(A/G)GTTGT intron-variant
rs727505 -- 124,822,027(-) TTGTT(C/T)TTAGA downstream-variant-500B
rs727506 -- 124,821,973(-) CTGGA(C/T)GTAGC downstream-variant-500B
rs929365 -- 124,824,377(-) GACCC(A/G)TTGTA intron-variant
rs962863 -- 124,918,285(-) GTGTT(A/G)TTAGT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for POT1 Gene

Variant ID Type Subtype PubMed ID
dgv7475n71 CNV Loss 21882294
nsv889136 CNV Loss 21882294
nsv824297 CNV Gain 20364138
dgv7476n71 CNV Loss 21882294
nsv525729 CNV Gain 19592680

Relevant External Links for POT1 Gene

HapMap Linkage Disequilibrium report
POT1
Human Gene Mutation Database (HGMD)
POT1

Disorders for POT1 Gene

UniProtKB/Swiss-Prot

POTE1_HUMAN
  • Melanoma, cutaneous malignant 10 (CMM10) [MIM:615848]: A malignant neoplasm of melanocytes, arising de novo or from a pre-existing benign nevus, which occurs most often in the skin but also may involve other sites. {ECO:0000269 PubMed:24686846, ECO:0000269 PubMed:24686849}. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry.

(3) Novoseek inferred disease relationships for POT1 Gene

Disease -log(P) Hits PubMed IDs
chromosomal aberrations 35.2 1
cancer 33.5 3
tumors 0 5

Relevant External Links for POT1

Genetic Association Database (GAD)
POT1
Human Genome Epidemiology (HuGE) Navigator
POT1
genes like me logo Genes that share disorders with POT1: view

Publications for POT1 Gene

  1. Human Pot1 (protection of telomeres) protein: cytolocalization, gene structure, and alternative splicing. (PMID: 12391173) Baumann P. … Cech T.R. (Mol. Cell. Biol. 2002) 2 3 4 23
  2. Human POT1 facilitates telomere elongation by telomerase. (PMID: 12781132) Colgin L.M. … Reddel R.R. (Curr. Biol. 2003) 3 4 23
  3. Shelterin: the protein complex that shapes and safeguards human telomeres. (PMID: 16166375) de Lange T. (Genes Dev. 2005) 3 4 23
  4. POT1-interacting protein PIP1: a telomere length regulator that recruits POT1 to the TIN2/TRF1 complex. (PMID: 15231715) Ye J.Z.-S. … de Lange T. (Genes Dev. 2004) 3 4 23
  5. TIN2 binds TRF1 and TRF2 simultaneously and stabilizes the TRF2 complex on telomeres. (PMID: 15316005) Ye J.Z.-S. … de Lange T. (J. Biol. Chem. 2004) 3 4 23

Products for POT1 Gene

  • Addgene plasmids for POT1

Sources for POT1 Gene

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