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POT1 protection of telomeres 1 [ Homo sapiens (human) ]

Gene ID: 25913, updated on 10-Oct-2019

Summary

Official Symbol
POT1provided by HGNC
Official Full Name
protection of telomeres 1provided by HGNC
Primary source
HGNC:HGNC:17284
See related
Ensembl:ENSG00000128513 MIM:606478
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
GLM9; CMM10; HPOT1
Summary
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]
Expression
Ubiquitous expression in testis (RPKM 8.1), thyroid (RPKM 7.2) and 25 other tissues See more
Orthologs

Genomic context

See POT1 in Genome Data Viewer
Location:
7q31.33
Exon count:
21
Annotation release Status Assembly Chr Location
109.20190905 current GRCh38.p13 (GCF_000001405.39) 7 NC_000007.14 (124822386..124929983, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (124462440..124570037, complement)

Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene G protein-coupled receptor 37 Neighboring gene chromosome 7 open reading frame 77 Neighboring gene Sharpr-MPRA regulatory region 5954 Neighboring gene POT1 antisense RNA 1 Neighboring gene eukaryotic translation elongation factor 1 gamma pseudogene 1 Neighboring gene long intergenic non-protein coding RNA 2830

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Glioma susceptibility 9
MedGen: C4225278 OMIM: 616568 GeneReviews: Not available
Compare labs
Melanoma, cutaneous malignant, susceptibility to, 10
MedGen: C4014476 OMIM: 615848 GeneReviews: Not available
Compare labs

NHGRI GWAS Catalog

Description
A genome-wide association study identifies multiple susceptibility loci for chronic lymphocytic leukemia.
NHGRI GWA Catalog

Pathways from BioSystems

  • Cell Cycle, organism-specific biosystem (from REACTOME)
    Cell Cycle, organism-specific biosystem
    Cell Cycle
  • Cellular Senescence, organism-specific biosystem (from REACTOME)
    Cellular Senescence, organism-specific biosystemCellular senescence involves irreversible growth arrest accompanied by phenotypic changes such as enlarged morphology, reorganization of chromatin through formation of senescence-associated heterochr...
  • Cellular responses to stress, organism-specific biosystem (from REACTOME)
    Cellular responses to stress, organism-specific biosystemCells are subject to external molecular and physical stresses such as foreign molecules that perturb metabolic or signaling processes, and changes in temperature or pH. The ability of cells and tissu...
  • Chromosome Maintenance, organism-specific biosystem (from REACTOME)
    Chromosome Maintenance, organism-specific biosystemChromosome maintenance is critical for stable chromosome function in mammalian and other eukaryotic cells. Aspects of telomere maintenance and nucleosome assembly are covered here.
  • DNA Damage/Telomere Stress Induced Senescence, organism-specific biosystem (from REACTOME)
    DNA Damage/Telomere Stress Induced Senescence, organism-specific biosystemReactive oxygen species (ROS), whose concentration increases in senescent cells due to oncogenic RAS-induced mitochondrial dysfunction (Moiseeva et al. 2009) or due to environmental stress, cause DNA...
  • Meiosis, organism-specific biosystem (from REACTOME)
    Meiosis, organism-specific biosystemDuring meiosis the replicated chromosomes of a single diploid cell are segregated into 4 haploid daughter cells by two successive divisions, meiosis I and meiosis II. In meiosis I, the distinguishing...
  • Meiotic synapsis, organism-specific biosystem (from REACTOME)
    Meiotic synapsis, organism-specific biosystemMeiotic synapsis is the stable physical pairing of homologous chromosomes that begins in leptonema of prophase I and lasts until anaphase of prophase I. First, short segments of axial elements form a...
  • Packaging Of Telomere Ends, organism-specific biosystem (from REACTOME)
    Packaging Of Telomere Ends, organism-specific biosystemMultiple steps, including C-strand resection, telomerase-mediated elongation, and C-strand synthesis are involved in processing and maintaining the telomere. Though this module posits a linear trans...
  • Regulation of Telomerase, organism-specific biosystem (from Pathway Interaction Database)
    Regulation of Telomerase, organism-specific biosystem
    Regulation of Telomerase
  • Shelterin complex, organism-specific biosystem (from KEGG)
    Shelterin complex, organism-specific biosystemStructural complex; Genetic information processing; Replication system
  • Shelterin complex, conserved biosystem (from KEGG)
    Shelterin complex, conserved biosystemStructural complex; Genetic information processing; Replication system
  • Telomere Maintenance, organism-specific biosystem (from REACTOME)
    Telomere Maintenance, organism-specific biosystemTelomeres are protein-DNA complexes at the ends of linear chromosomes that are important for genome stability. Telomeric DNA in humans, as in many eukaryotic organisms, consists of tandem repeats (B...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • DKFZp586D211

Gene Ontology Provided by GOA

Function Evidence Code Pubs
8-hydroxy-2'-deoxyguanosine DNA binding IDA
Inferred from Direct Assay
more info
PubMed 
DEAD/H-box RNA helicase binding IPI
Inferred from Physical Interaction
more info
PubMed 
G-rich single-stranded DNA binding IDA
Inferred from Direct Assay
more info
PubMed 
G-rich strand telomeric DNA binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
G-rich strand telomeric DNA binding IDA
Inferred from Direct Assay
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
single-stranded telomeric DNA binding IDA
Inferred from Direct Assay
more info
PubMed 
single-stranded telomeric DNA binding IMP
Inferred from Mutant Phenotype
more info
PubMed 
telomerase inhibitor activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
telomerase inhibitor activity IDA
Inferred from Direct Assay
more info
PubMed 
telomeric D-loop binding IDA
Inferred from Direct Assay
more info
PubMed 
telomeric DNA binding IDA
Inferred from Direct Assay
more info
PubMed 
NOT telomeric G-quadruplex DNA binding IDA
Inferred from Direct Assay
more info
PubMed 
Process Evidence Code Pubs
DNA duplex unwinding IDA
Inferred from Direct Assay
more info
PubMed 
establishment of protein localization to telomere IMP
Inferred from Mutant Phenotype
more info
PubMed 
negative regulation of telomerase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
negative regulation of telomerase activity IDA
Inferred from Direct Assay
more info
PubMed 
negative regulation of telomere maintenance via telomerase IGI
Inferred from Genetic Interaction
more info
PubMed 
negative regulation of telomere maintenance via telomerase TAS
Traceable Author Statement
more info
PubMed 
positive regulation of DNA helicase activity IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of DNA strand elongation IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of helicase activity IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of telomerase activity IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of telomerase activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of telomere maintenance via telomerase IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of telomere maintenance via telomerase IMP
Inferred from Mutant Phenotype
more info
PubMed 
regulation of DNA helicase activity IDA
Inferred from Direct Assay
more info
PubMed 
regulation of telomere maintenance via telomerase IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
regulation of telomere maintenance via telomerase IGI
Inferred from Genetic Interaction
more info
PubMed 
telomere assembly IDA
Inferred from Direct Assay
more info
PubMed 
telomere capping IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
telomere capping IGI
Inferred from Genetic Interaction
more info
PubMed 
telomere capping IMP
Inferred from Mutant Phenotype
more info
PubMed 
telomere capping TAS
Traceable Author Statement
more info
PubMed 
telomere maintenance via telomerase IDA
Inferred from Direct Assay
more info
PubMed 
telomeric D-loop disassembly IGI
Inferred from Genetic Interaction
more info
PubMed 
Component Evidence Code Pubs
chromosome, telomeric region IDA
Inferred from Direct Assay
more info
PubMed 
nuclear chromosome, telomeric region HDA PubMed 
nuclear chromosome, telomeric region IDA
Inferred from Direct Assay
more info
PubMed 
nuclear telomere cap complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
nuclear telomere cap complex IDA
Inferred from Direct Assay
more info
PubMed 
nucleoplasm IDA
Inferred from Direct Assay
more info
 
nucleoplasm TAS
Traceable Author Statement
more info
 
shelterin complex IDA
Inferred from Direct Assay
more info
PubMed 
shelterin complex IMP
Inferred from Mutant Phenotype
more info
PubMed 
shelterin complex TAS
Traceable Author Statement
more info
PubMed 

General protein information

Preferred Names
protection of telomeres protein 1
Names
POT1-like telomere end-binding protein
protection of telomeres 1 homolog

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_029232.1 RefSeqGene

    Range
    5159..112598
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001042594.1NP_001036059.1  protection of telomeres protein 1 isoform 4

    See identical proteins and their annotated locations for NP_001036059.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) lacks an alternate in-frame exon in the 5' coding region and uses a downstream start codon, compared to variant 1. The encoded isoform (5, also known as POT1-55) has a shorter N-terminus, compared to isoform 1. There are currently no publicly available full-length transcripts representing this variant, but it is supported by data in PMIDs 12391173 and 15973431.
    Source sequence(s)
    AK022580, AL050120, AY823523, BM693856, DA412639, DA707481
    UniProtKB/Swiss-Prot
    Q9NUX5
    UniProtKB/TrEMBL
    A8MTK3, Q5MJ33
    Related
    ENSP00000377002.1, ENST00000393329.5
    Conserved Domains (1) summary
    cd04498
    Location:30147
    hPOT1_OB2; hPOT1_OB2: A subfamily of OB folds similar to the second OB fold (OB2) of human protection of telomeres 1 protein (hPOT1). POT1 proteins bind to the single-stranded (ss) 3-prime ends of the telomere. hPOT1 binds specifically to ss telomeric DNA repeats ...
  2. NM_015450.3NP_056265.2  protection of telomeres protein 1 isoform 1

    See identical proteins and their annotated locations for NP_056265.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the longer isoform (1).
    Source sequence(s)
    AK022580, AL050120, BM693856, DA580630
    Consensus CDS
    CCDS5793.1
    UniProtKB/Swiss-Prot
    Q9NUX5
    UniProtKB/TrEMBL
    A0A024R739
    Related
    ENSP00000350249.3, ENST00000357628.8
    Conserved Domains (2) summary
    smart00976
    Location:11141
    Telo_bind; Telomeric single stranded DNA binding POT1/CDC13
    cd04498
    Location:161278
    hPOT1_OB2; hPOT1_OB2: A subfamily of OB folds similar to the second OB fold (OB2) of human protection of telomeres 1 protein (hPOT1). POT1 proteins bind to the single-stranded (ss) 3-prime ends of the telomere. hPOT1 binds specifically to ss telomeric DNA repeats ...

RNA

  1. NR_003102.1 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) has an alternate exon in the coding region that results in a frameshift and early stop codon, compared to variant 1. A CDS is not annotated because the transcript is a nonsense-mediated mRNA decay (NMD) candidate.
    Source sequence(s)
    AK022580, AL050120, AY823521, BM693856, DA412639, DA707481
  2. NR_003103.1 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) lacks an alternate exon in the coding region that results in a frameshift and early stop codon, compared to variant 1. A CDS is not annotated because the transcript is a nonsense-mediated mRNA decay (NMD) candidate.
    Source sequence(s)
    AK022580, AL050120, AY823522, BM693856, DA412639, DA707481
  3. NR_003104.1 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5) has an alternate exon in the coding region that results in a frameshift and early stop codon, compared to variant 1. A CDS is not annotated because the transcript is a nonsense-mediated mRNA decay (NMD) candidate.
    Source sequence(s)
    AC004925, AK022580, AL050120, AY823524, BC002923, BM693856, DA412639, DA707481

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109.20190905

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000007.14 Reference GRCh38.p13 Primary Assembly

    Range
    124822386..124929983 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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