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Gene: POT1 (protection of telomeres 1) Homo sapiens
Symbol: POT1
Name: protection of telomeres 1
Description: Exhibits DEAD/H-box RNA helicase binding activity; DNA binding activity; and telomerase inhibitor activity. Involved in several processes, including positive regulation of DNA helicase activity; regulation of DNA metabolic process; and telomere organization. Localizes to the nucleoplasm and shelterin complex. Implicated in familial melanoma and malignant glioma.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: CMM10; DKFZp586D211; GLM9; HPOT1; POT1 protection of telomeres 1 homolog; POT1-like telomere end-binding protein; protection of telomeres 1 homolog; protection of telomeres protein 1
Mus musculus (house mouse) : Pot1a (protection of telomeres 1A)  MGI  Alliance
Rattus norvegicus (Norway rat) : Pot1 (protection of telomeres 1)  Alliance
Chinchilla lanigera (long-tailed chinchilla) : Pot1 (protection of telomeres 1)
Pan paniscus (bonobo/pygmy chimpanzee) : POT1 (protection of telomeres 1)
Canis lupus familiaris (dog) : POT1 (protection of telomeres 1)
Ictidomys tridecemlineatus (thirteen-lined ground squirrel) : Pot1 (protection of telomeres 1)
Sus scrofa (pig) : POT1 (protection of telomeres 1)
more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Human AssemblyChrPosition (strand)SourceGenome Browsers
GRCh387124,822,386 - 124,929,983 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh377124,462,440 - 124,570,037 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 367124,249,676 - 124,357,273 (-)NCBINCBI36hg18NCBI36
Build 347124,057,263 - 124,131,201NCBI
Celera7119,267,687 - 119,375,230 (-)NCBI
Cytogenetic Map7q31.33NCBI
HuRef7118,827,419 - 118,935,017 (-)NCBIHuRef
CHM1_17124,395,753 - 124,503,350 (-)NCBICHM1_1
CRA_TCAGchr7v27123,851,834 - 123,959,412 (-)NCBI
JBrowse: View Region in Genome Browser (JBrowse)

Disease Annotations
Gene-Chemical Interaction Annotations
Gene Ontology Annotations
Phenotype Annotations
References - curated
References - uncurated


Comparative Map Data
Position Markers
miRNA Target Status



Nucleotide Sequences
Protein Sequences
Clinical Variants

Additional Information

External Database Links
Nomenclature History
More on POT1
Alliance Gene
Ensembl Gene
JBrowse: hg19 hg38
HGNC Report
NCBI Genome Data Viewer

CRRD Object Information
CRRD ID: 1344340
Created: 2005-03-08
Species: Homo sapiens
Last Modified: 2019-11-26
Status: ACTIVE


RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.