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Aliases for POT1 Gene

Aliases for POT1 Gene

  • Protection Of Telomeres 1 2 3 5
  • POT1-Like Telomere End-Binding Protein 3 4
  • Protection Of Telomeres 1 Homolog (S. Pombe) 2
  • Protection Of Telomeres 1 Homolog 3
  • Protection Of Telomeres Protein 1 3
  • CMM10 3
  • HPOT1 3
  • HPot1 4
  • GLM9 3

External Ids for POT1 Gene

Previous GeneCards Identifiers for POT1 Gene

  • GC07M122941
  • GC07M124003
  • GC07M124017
  • GC07M124016
  • GC07M124057
  • GC07M124250
  • GC07M124462
  • GC07M118827

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]

CIViC summary for POT1 Gene

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 Glioma Susceptibility 9. Among its related pathways are Cell Cycle, Mitotic and Meiosis. Gene Ontology (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

Additional gene information 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

GeneHancer (GH) Regulatory Elements for POT1 Gene

Promoters and enhancers for POT1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH07J124928 Promoter/Enhancer 1.6 Ensembl ENCODE 650.7 +0.3 299 1.7 HDGF PKNOX1 ARNT ARID4B SIN3A DMAP1 YY1 SLC30A9 POLR2B CBX5 POT1-AS1 POT1 C7orf77
GH07J124763 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE dbSUPER 10.2 +164.7 164683 2.8 PKNOX1 SIN3A ZNF2 GLIS2 RUNX3 SP3 REST ZNF785 SP7 CTCF GPR37 POT1-AS1 POT1 ENSG00000279419
GH07J124839 Enhancer 0.5 ENCODE 0.2 +90.0 89998 1 SOX5 CTCF FOXA2 HOMEZ RAD21 MIXL1 POT1-AS1 C7orf77 POT1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around POT1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the POT1 gene promoter:
  • FOXO1a
  • FOXO1
  • GATA-2
  • GATA-1
  • POU2F1c
  • POU2F1b
  • POU2F1a
  • POU2F1
  • Evi-1
  • Cart-1

Genomic Locations for POT1 Gene

Genomic Locations for POT1 Gene
chr7:124,822,386-124,929,983
(GRCh38/hg38)
Size:
107,598 bases
Orientation:
Minus strand
chr7:124,462,440-124,570,037
(GRCh37/hg19)
Size:
107,598 bases
Orientation:
Minus strand

Genomic View for POT1 Gene

Genes around POT1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
POT1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for POT1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence 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; Note=Translation N-terminally extended.; 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

Post-translational modifications for POT1 Gene

  • Ubiquitination at Lys469
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for POT1 Gene

Domains & Families for POT1 Gene

Gene Families for POT1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Cancer-related genes
  • Disease related genes
  • Predicted intracellular proteins

Protein Domains for POT1 Gene

Suggested Antigen Peptide Sequences for POT1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9NUX5

UniProtKB/Swiss-Prot:

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

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.

Phenotypes From GWAS Catalog for POT1 Gene

Gene Ontology (GO) - Molecular Function for POT1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003677 DNA binding IEA --
GO:0005515 protein binding IPI 12768206
GO:0010521 telomerase inhibitor activity IDA 15632080
GO:0017151 DEAD/H-box RNA helicase binding IPI 16030011
GO:0042162 telomeric DNA binding IDA 23685356
genes like me logo Genes that share ontologies with POT1: view
genes like me logo Genes that share phenotypes with POT1: view

Human Phenotype Ontology for POT1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for POT1 Gene

MGI Knock Outs for POT1:

Animal Model Products

Clone Products

  • Addgene plasmids for POT1

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets 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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for POT1 gene
Compartment Confidence
nucleus 5
cytosol 3
peroxisome 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for POT1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000781 chromosome, telomeric region IEA,IDA 12768206
GO:0000783 nuclear telomere cap complex IDA 16880378
GO:0000784 nuclear chromosome, telomeric region IDA,IEA 23685356
GO:0005634 nucleus IDA --
GO:0005654 nucleoplasm TAS --
genes like me logo Genes that share ontologies with POT1: view

Pathways & Interactions for POT1 Gene

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

SIGNOR curated interactions for POT1 Gene

Activates:

Gene Ontology (GO) - Biological Process for POT1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007004 telomere maintenance via telomerase IDA 12768206
GO:0016233 telomere capping TAS,IMP 17237768
GO:0032202 telomere assembly IDA 16043710
GO:0032210 regulation of telomere maintenance via telomerase IGI 26586433
GO:0032211 negative regulation of telomere maintenance via telomerase TAS 17237768
genes like me logo Genes that share ontologies with POT1: view

Drugs & Compounds for POT1 Gene

(2) Additional Compounds for POT1 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
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:

Clone Products

  • Addgene plasmids for POT1

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 from GTEx, Illumina, BioGPS, and CGAP SAGE for POT1 Gene

Protein differential expression in normal tissues from HIPED for POT1 Gene

This gene is overexpressed in Monocytes (26.9), Tlymphocyte (20.6), and Blymphocyte (12.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for POT1 Gene



Protein tissue co-expression partners for POT1 Gene

NURSA nuclear receptor signaling pathways regulating expression of POT1 Gene:

POT1

SOURCE GeneReport for Unigene cluster for POT1 Gene:

Hs.31968

mRNA Expression by UniProt/SwissProt for POT1 Gene:

Q9NUX5-POTE1_HUMAN
Tissue specificity: Ubiquitous.

Evidence on tissue expression from TISSUES for POT1 Gene

  • Intestine(4.2)
  • Skin(4.1)
  • Nervous system(2.4)

Phenotype-based relationships between genes and organs from Gene ORGANizer for POT1 Gene

Germ Layers:
  • ectoderm
  • mesoderm
Systems:
  • immune
  • integumentary
  • lymphatic
  • nervous
Regions:
Head and neck:
  • brain
  • eye
  • head
General:
  • blood
  • bone marrow
  • skin
  • white blood cell
genes like me logo Genes that share expression patterns with POT1: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA differential expression in normal tissues for POT1 Gene

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 34 33
  • 99.42 (n)
OneToOne
dog
(Canis familiaris)
Mammalia POT1 34 33
  • 90.27 (n)
OneToOne
cow
(Bos Taurus)
Mammalia POT1 34 33
  • 87.43 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Pot1 33
  • 79.23 (n)
mouse
(Mus musculus)
Mammalia Pot1a 16 34 33
  • 78.86 (n)
Pot1b 34
  • 71 (a)
OneToMany
oppossum
(Monodelphis domestica)
Mammalia POT1 34
  • 54 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia POT1 34
  • 50 (a)
OneToOne
chicken
(Gallus gallus)
Aves POT1 34 33
  • 67.46 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia POT1 34
  • 43 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia pot1 33
  • 61.61 (n)
zebrafish
(Danio rerio)
Actinopterygii pot1 34 33
  • 49.16 (n)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea CSA.10644 34
  • 29 (a)
OneToOne
Species where no ortholog for POT1 was found in the sources mined by GeneCards:
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for POT1: view image

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 Variation AA Info Type
rs1044174795 uncertain-significance, Melanoma, cutaneous malignant, susceptibility to, 10 124,870,942(-) T/C 5_prime_UTR_variant, coding_sequence_variant, intron_variant, missense_variant, non_coding_transcript_variant
rs1050055964 uncertain-significance, Melanoma, cutaneous malignant, susceptibility to, 10 124,858,984(-) G/A/T coding_sequence_variant, missense_variant, non_coding_transcript_variant, synonymous_variant
rs116916706 likely-benign, uncertain-significance, Melanoma, cutaneous malignant, susceptibility to, 10, Hereditary cancer-predisposing syndrome 124,851,918(-) C/A/T coding_sequence_variant, missense_variant, non_coding_transcript_variant, synonymous_variant
rs138223484 likely-benign, Melanoma, cutaneous malignant, susceptibility to, 10 124,846,954(-) G/A coding_sequence_variant, non_coding_transcript_variant, synonymous_variant
rs139388603 uncertain-significance, Melanoma, cutaneous malignant, susceptibility to, 10 124,829,280(-) G/C/T coding_sequence_variant, intron_variant, missense_variant, non_coding_transcript_variant, stop_gained

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

Variant ID Type Subtype PubMed ID
esv3614883 CNV loss 21293372
nsv1161606 CNV deletion 26073780
nsv525729 CNV gain 19592680
nsv608341 CNV loss 21841781
nsv608342 CNV gain 21841781
nsv824297 CNV gain 20364138

Variation tolerance for POT1 Gene

Residual Variation Intolerance Score: 28% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.95; 36.13% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for POT1 Gene

Human Gene Mutation Database (HGMD)
POT1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
POT1

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for POT1 Gene

Disorders for POT1 Gene

MalaCards: The human disease database

(8) MalaCards diseases for POT1 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
melanoma, cutaneous malignant 10
  • melanoma, cutaneous malignant, susceptibility to, 10
glioma susceptibility 9
  • glm9
leukemia, chronic lymphocytic
  • cll
anaplastic oligodendroglioma
melanoma, cutaneous malignant 1
  • melanoma, cutaneous malignant, susceptibility to, 1
- elite association - COSMIC cancer census association via MalaCards
Search POT1 in MalaCards View complete list of genes associated with diseases

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.
  • Glioma 9 (GLM9) [MIM:616568]: Gliomas are benign or malignant central nervous system neoplasms derived from glial cells. They comprise astrocytomas and glioblastoma multiforme that are derived from astrocytes, oligodendrogliomas derived from oligodendrocytes and ependymomas derived from ependymocytes. {ECO:0000269 PubMed:25482530}. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry.

Additional Disease Information for POT1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with POT1: view

No data available for Genatlas for POT1 Gene

Publications for POT1 Gene

  1. Human Pot1 (protection of telomeres) protein: cytolocalization, gene structure, and alternative splicing. (PMID: 12391173) Baumann P … Cech TR (Molecular and cellular biology 2002) 2 3 4 22 58
  2. Polymorphisms in telomere maintenance genes and risk of lung cancer. (PMID: 19773453) Choi JE … Park JY (Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology 2009) 3 22 44 58
  3. Polymorphisms in telomere-associated genes, breast cancer susceptibility and prognosis. (PMID: 19766477) Varadi V … Försti A (European journal of cancer (Oxford, England : 1990) 2009) 3 22 44 58
  4. The POT1-TPP1 telomere complex is a telomerase processivity factor. (PMID: 17237768) Wang F … Lei M (Nature 2007) 3 4 22 58
  5. Genetic variation in five genes important in telomere biology and risk for breast cancer. (PMID: 17848914) Savage SA … Garcia-Closas M (British journal of cancer 2007) 3 22 44 58

Products for POT1 Gene

Sources for POT1 Gene

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