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

Gene ID: 25913, updated on 2-Mar-2021

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
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Genomic context

See POT1 in Genome Data Viewer
Location:
7q31.33
Exon count:
21
Annotation release Status Assembly Chr Location
109.20210226 current GRCh38.p13 (GCF_000001405.39) 7 NC_000007.14 (124822386..124929825, complement)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (124462440..124569879, 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?

Pathways from PubChem

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 double-strand break repair via nonhomologous end joining 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 HDA PubMed 
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)

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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_001042594.2NP_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, 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_003102.2 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, DA707481
  2. NR_003103.2 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, DA707481
  3. NR_003104.2 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, DA707481

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210226

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..124929825 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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