Version 5.4
Homo sapiens Gene: POT1
Summary
InnateDB Gene IDBG-39151.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol POT1
Gene Name protection of telomeres 1 homolog (S. pombe)
Synonyms CMM10; HPOT1
Species Homo sapiens
Ensembl Gene ENSG00000128513
Encoded Proteins
IDBP-39153
protection of telomeres 1 homolog (S. pombe)
IDBP-243815
protection of telomeres 1 homolog (S. pombe)
IDBP-386011
protection of telomeres 1 homolog (S. pombe)
IDBP-386015
protection of telomeres 1 homolog (S. pombe)
IDBP-386017
protection of telomeres 1 homolog (S. pombe)
IDBP-386018
protection of telomeres 1 homolog (S. pombe)
IDBP-807553
protection of telomeres 1
IDBP-807535
protection of telomeres 1
IDBP-807540
protection of telomeres 1
IDBP-807545
protection of telomeres 1
IDBP-807547
protection of telomeres 1
IDBP-807551
protection of telomeres 1
IDBP-807555
protection of telomeres 1
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
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]
Gene Information
Type Protein coding
Genomic Location Chromosome 7:124822386-124929983
Strand Reverse strand
Band q31.33
Transcripts
ENST00000357628 ENSP00000350249
ENST00000393329 ENSP00000377002
ENST00000430927 ENSP00000397632
ENST00000436534 ENSP00000416820
ENST00000429326 ENSP00000403088
ENST00000446993 ENSP00000388921
ENST00000466483
ENST00000487564 ENSP00000476290
ENST00000461288
ENST00000464453
ENST00000609106 ENSP00000476981
ENST00000607932 ENSP00000476506
ENST00000608057 ENSP00000476371
ENST00000608200 ENSP00000477320
ENST00000610141 ENSP00000476673
ENST00000608126
ENST00000609702 ENSP00000477258
ENST00000608437
ENST00000608261
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 214 experimentally validated interaction(s) in this database.
They are also associated with 4 interaction(s) predicted by orthology.
Experimentally validated
Total 216 [view]
Protein-Protein 214 [view]
Protein-DNA 1 [view]
Protein-RNA 0
DNA-DNA 1 [view]
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 4 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0003677 DNA binding
GO:0005515 protein binding
GO:0010521 telomerase inhibitor activity
GO:0017151 DEAD/H-box RNA helicase binding
GO:0043047 single-stranded telomeric DNA binding
Biological Process
GO:0000723 telomere maintenance
GO:0007004 telomere maintenance via telomerase
GO:0016233 telomere capping
GO:0032203 telomere formation via telomerase
GO:0032211 negative regulation of telomere maintenance via telomerase
GO:0032212 positive regulation of telomere maintenance via telomerase
GO:0032508 DNA duplex unwinding
GO:0051096 positive regulation of helicase activity
GO:0051973 positive regulation of telomerase activity
GO:0051974 negative regulation of telomerase activity
GO:0060383 positive regulation of DNA strand elongation
Cellular Component
GO:0000781 chromosome, telomeric region
GO:0000783 nuclear telomere cap complex
GO:0000784 nuclear chromosome, telomeric region
GO:0005634 nucleus
GO:0005654 nucleoplasm
GO:0005737 cytoplasm
Orthologs
Species
Mus musculus
Gene ID
Gene Order
ENSMUSG00000029676
View Gene Order
Pathways
NETPATH
REACTOME
REACT_75792
Meiotic synapsis pathway
REACT_7963
Packaging Of Telomere Ends pathway
REACT_120956
Cellular responses to stress pathway
REACT_22172
Chromosome Maintenance pathway
REACT_7970
Telomere Maintenance pathway
REACT_115566
Cell Cycle pathway
REACT_169185
DNA Damage/Telomere Stress Induced Senescence pathway
REACT_169274
Cellular Senescence pathway
REACT_111183
Meiosis pathway
KEGG
INOH
PID NCI
telomerasepathway
Regulation of Telomerase
Cross-References
SwissProt
TrEMBL
UniProt Splice Variant
Entrez Gene
UniGene Hs.598360 Hs.736723
RefSeq NM_001042594 NM_015450 XM_006715917
HUGO
OMIM
CCDS CCDS5793
HPRD 07572
IMGT
EMBL
GenPept
RNA Seq Atlas

If you use InnateDB for your research, please cite the following publication:

Breuer et al., InnateDB: systems biology of innate immunity and beyond - recent updates and continuing curation. Nucl. Acids Res. (2013) 41 (D1) 

InnateDB is being developed jointly by the Brinkman Laboratory (Simon Fraser University, British Columbia, Canada), the Hancock Laboratory (University of British Columbia, Vancouver, British Columbia) and the Lynn EMBL Australia Group (South Australian Health & Medical Research Institute and Flinders University, Adelaide, Australia).

Funding is currently provided by Allergen and EMBL Australia. Previous funding has been provided by Genome Canada, the Foundation for the National Institutes of Health through the Grand Challenges in Global Health initiative and by Teagasc. InnateDB curated interactions are licensed under the Design Science License. All other data is licensed under the terms of the originating database. Contact: innatedb-mail@sfu.ca