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Gene: POT1 (protection of telomeres 1) Homo sapiens
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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
Orthologs:
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
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
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)
Model


Disease Annotations
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References - curated
References - uncurated

Genomics

Comparative Map Data
Position Markers
miRNA Target Status

Expression


Sequence

Nucleotide Sequences
Protein Sequences
Promoters
Clinical Variants

Additional Information

External Database Links
Nomenclature History
 
More on POT1
Alliance Gene
NCBI 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



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