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

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; AllianceGenome:HGNC:17284
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; TPDS3; CRMCC3; PFBMFT8
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: mouse all
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Genomic context

Location:: 7q31.33

Exon count:: 21

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	7	NC_000007.14 (124822386..124929825, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	7	NC_060931.1 (126139780..126247229, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	7	NC_000007.13 (124462440..124569879, complement)

Chromosome 7 - NC_000007.14 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

A POT1 Founder Variant Associated with Early Onset Recurrent Melanoma and Various Solid Malignancies.
Title: A POT1 Founder Variant Associated with Early Onset Recurrent Melanoma and Various Solid Malignancies.
Decreased telomere length in a subgroup of young individuals with bipolar disorders: replication in the FACE-BD cohort and association with the shelterin component POT1.
Title: Decreased telomere length in a subgroup of young individuals with bipolar disorders: replication in the FACE-BD cohort and association with the shelterin component POT1.
Germline POT1 Variants: A Critical Perspective on POT1 Tumor Predisposition Syndrome.
Title: Germline POT1 Variants: A Critical Perspective on POT1 Tumor Predisposition Syndrome.
Characterization of POT1 tumor predisposition syndrome: Tumor prevalence in a clinically diverse hereditary cancer cohort.
Title: Characterization of POT1 tumor predisposition syndrome: Tumor prevalence in a clinically diverse hereditary cancer cohort.
POT1 involved in telomeric DNA damage repair and genomic stability of cervical cancer cells in response to radiation.
Title: POT1 involved in telomeric DNA damage repair and genomic stability of cervical cancer cells in response to radiation.
Human POT1 protects the telomeric ds-ss DNA junction by capping the 5' end of the chromosome.
Title: Human POT1 protects the telomeric ds-ss DNA junction by capping the 5' end of the chromosome.
Familial Clonal Hematopoiesis in a Long Telomere Syndrome.
Title: Familial Clonal Hematopoiesis in a Long Telomere Syndrome.
POT1 mutations cause differential effects on telomere length leading to opposing disease phenotypes.
Title: POT1 mutations cause differential effects on telomere length leading to opposing disease phenotypes.
POT1-TPP1 regulates telomeric overhang structural dynamics.
Title: POT1-TPP1 regulates telomeric overhang structural dynamics.
Multiple POT1-TPP1 proteins coat and compact long telomeric single-stranded DNA.
Title: Multiple POT1-TPP1 proteins coat and compact long telomeric single-stranded DNA.

Submit: New GeneRIF Correction See all GeneRIFs (120)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Cerebroretinal microangiopathy with calcifications and cysts 3 MedGen: C5830497 OMIM: 620368 GeneReviews: Not available	not available
Pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 8 MedGen: C5830496 OMIM: 620367 GeneReviews: Not available	not available
Tumor predisposition syndrome 3 MedGen: C4014476 OMIM: 615848 GeneReviews: POT1 Tumor Predisposition	Compare labs

EBI GWAS Catalog

Description
A genome-wide association study identifies multiple susceptibility loci for chronic lymphocytic leukemia. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

SHGC-171953 (e-PCR)
- UniSTS:184590

G64162 (e-PCR)
- UniSTS:146726

POT1_1702 (e-PCR)
- UniSTS:277595

WI-16165 (e-PCR)
- UniSTS:18870

WI-22258 (e-PCR)
- UniSTS:30417

GDB:1318142 (e-PCR)
- UniSTS:25317

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables 8-hydroxy-2'-deoxyguanosine DNA binding	IDA Inferred from Direct Assay more info	PubMed
enables DEAD/H-box RNA helicase binding	IPI Inferred from Physical Interaction more info	PubMed
enables G-rich single-stranded DNA binding	IDA Inferred from Direct Assay more info	PubMed
enables G-rich strand telomeric DNA binding	IBA Inferred from Biological aspect of Ancestor more info
enables G-rich strand telomeric DNA binding	IDA Inferred from Direct Assay more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables single-stranded telomeric DNA binding	IDA Inferred from Direct Assay more info	PubMed
enables single-stranded telomeric DNA binding	IMP Inferred from Mutant Phenotype more info	PubMed
enables telomerase inhibitor activity	IBA Inferred from Biological aspect of Ancestor more info
enables telomerase inhibitor activity	IDA Inferred from Direct Assay more info	PubMed
enables telomeric D-loop binding	IDA Inferred from Direct Assay more info	PubMed
enables telomeric DNA binding	IDA Inferred from Direct Assay more info	PubMed
enables telomeric DNA binding	IMP Inferred from Mutant Phenotype more info	PubMed
NOT enables telomeric G-quadruplex DNA binding	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in DNA duplex unwinding	IDA Inferred from Direct Assay more info	PubMed
involved_in establishment of protein localization to telomere	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of telomerase activity	IBA Inferred from Biological aspect of Ancestor more info
involved_in negative regulation of telomerase activity	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of telomere maintenance via telomerase	IGI Inferred from Genetic Interaction more info	PubMed
involved_in negative regulation of telomere maintenance via telomerase	TAS Traceable Author Statement more info	PubMed
involved_in positive regulation of DNA helicase activity	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of DNA strand elongation	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of helicase activity	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of telomerase activity	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of telomerase activity	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of telomere maintenance	NAS Non-traceable Author Statement more info	PubMed
involved_in positive regulation of telomere maintenance via telomerase	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of telomere maintenance via telomerase	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of DNA helicase activity	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of double-strand break repair via nonhomologous end joining	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of telomere maintenance via telomerase	IBA Inferred from Biological aspect of Ancestor more info
involved_in regulation of telomere maintenance via telomerase	IGI Inferred from Genetic Interaction more info	PubMed
involved_in telomere assembly	IDA Inferred from Direct Assay more info	PubMed
involved_in telomere capping	IBA Inferred from Biological aspect of Ancestor more info
involved_in telomere capping	IDA Inferred from Direct Assay more info	PubMed
involved_in telomere capping	IGI Inferred from Genetic Interaction more info	PubMed
involved_in telomere capping	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in telomere capping	TAS Traceable Author Statement more info	PubMed
involved_in telomere maintenance via telomerase	IDA Inferred from Direct Assay more info	PubMed
involved_in telomere maintenance via telomerase	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in telomeric D-loop disassembly	IGI Inferred from Genetic Interaction more info	PubMed

Component	Evidence Code	Pubs
located_in chromosome, telomeric region	HDA more info	PubMed
located_in chromosome, telomeric region	IDA Inferred from Direct Assay more info	PubMed
part_of nuclear telomere cap complex	IBA Inferred from Biological aspect of Ancestor more info
part_of nuclear telomere cap complex	IDA Inferred from Direct Assay more info	PubMed
located_in nucleoplasm	IDA Inferred from Direct Assay more info
located_in nucleoplasm	TAS Traceable Author Statement more info
part_of shelterin complex	IDA Inferred from Direct Assay more info	PubMed
part_of shelterin complex	IMP Inferred from Mutant Phenotype more info	PubMed
part_of shelterin complex	IPI Inferred from Physical Interaction more info	PubMed
part_of shelterin complex	TAS Traceable Author Statement more info	PubMed

General protein information

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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

NG_029232.1 RefSeqGene

Range

5159..112598

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001042594.2 → NP_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/TrEMBL

A8MTK3

Related

ENSP00000377002.1, ENST00000393329.5

Conserved Domains (1) summary

cd04498
Location:30 → 147

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 ...
NM_015450.3 → NP_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

O95018, Q5MJ36, Q9H662, Q9NUX5, Q9NW19, Q9UG95

UniProtKB/TrEMBL

A0A590UJF7

Related

ENSP00000350249.3, ENST00000357628.8

Conserved Domains (2) summary

smart00976
Location:11 → 141

Telo_bind; Telomeric single stranded DNA binding POT1/CDC13

cd04498
Location:161 → 278

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

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
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
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