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POT1 (protection of telomeres 1)

Identity

Alias_namesprotection of telomeres 1 homolog (S. pombe)
Alias_symbol (synonym)hPot1
DKFZp586D211
Other aliasCMM10
GLM9
HPOT1
HGNC (Hugo) POT1
LocusID (NCBI) 25913
Atlas_Id 43423
Location 7q31.33  [Link to chromosome band 7q31]
Location_base_pair Starts at 124822386 and ends at 124929983 bp from pter ( according to hg38-Dec_2013)

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 


Other Cancer prone implicated (Data extracted from papers in the Atlas) [ 1 ]
  Familial melanoma


External links

Nomenclature
HGNC (Hugo)POT1   17284
Cards
Entrez_Gene (NCBI)POT1  25913  protection of telomeres 1
AliasesCMM10; GLM9; HPOT1
GeneCards (Weizmann)POT1
Ensembl hg19 (Hinxton)ENSG00000128513 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000128513 [Gene_View]  chr7:124822386-124929983 [Contig_View]  POT1 [Vega]
ICGC DataPortalENSG00000128513
TCGA cBioPortalPOT1
AceView (NCBI)POT1
Genatlas (Paris)POT1
WikiGenes25913
SOURCE (Princeton)POT1
Genetics Home Reference (NIH)POT1
Genomic and cartography
GoldenPath hg38 (UCSC)POT1  -     chr7:124822386-124929983 -  7q31.33   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)POT1  -     7q31.33   [Description]    (hg19-Feb_2009)
EnsemblPOT1 - 7q31.33 [CytoView hg19]  POT1 - 7q31.33 [CytoView hg38]
Mapping of homologs : NCBIPOT1 [Mapview hg19]  POT1 [Mapview hg38]
OMIM606478   615848   616568   
Gene and transcription
Genbank (Entrez)AK001230 AK001935 AK022580 AK026234 AK302263
RefSeq transcript (Entrez)NM_001042594 NM_015450
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)POT1
Cluster EST : UnigeneHs.31968 [ NCBI ]
CGAP (NCI)Hs.31968
Alternative Splicing GalleryENSG00000128513
Gene ExpressionPOT1 [ NCBI-GEO ]   POT1 [ EBI - ARRAY_EXPRESS ]   POT1 [ SEEK ]   POT1 [ MEM ]
Gene Expression Viewer (FireBrowse)POT1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)25913
GTEX Portal (Tissue expression)POT1
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9NUX5   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9NUX5  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9NUX5
Splice isoforms : SwissVarQ9NUX5
PhosPhoSitePlusQ9NUX5
Domains : Interpro (EBI)NA-bd_OB-fold    POT1    POT1PC    Telomer_end-bd_POT1/Cdc13   
Domain families : Pfam (Sanger)POT1 (PF02765)    POT1PC (PF16686)   
Domain families : Pfam (NCBI)pfam02765    pfam16686   
Domain families : Smart (EMBL)Telo_bind (SM00976)  
Conserved Domain (NCBI)POT1
DMDM Disease mutations25913
Blocks (Seattle)POT1
PDB (SRS)1XJV    3KJO    3KJP   
PDB (PDBSum)1XJV    3KJO    3KJP   
PDB (IMB)1XJV    3KJO    3KJP   
PDB (RSDB)1XJV    3KJO    3KJP   
Structural Biology KnowledgeBase1XJV    3KJO    3KJP   
SCOP (Structural Classification of Proteins)1XJV    3KJO    3KJP   
CATH (Classification of proteins structures)1XJV    3KJO    3KJP   
SuperfamilyQ9NUX5
Human Protein AtlasENSG00000128513
Peptide AtlasQ9NUX5
HPRD07572
IPIIPI00438212   IPI00438213   IPI01009343   IPI01015641   IPI00551012   IPI00783187   IPI00953241   IPI00924508   IPI00924685   
Protein Interaction databases
DIP (DOE-UCLA)Q9NUX5
IntAct (EBI)Q9NUX5
FunCoupENSG00000128513
BioGRIDPOT1
STRING (EMBL)POT1
ZODIACPOT1
Ontologies - Pathways
QuickGOQ9NUX5
Ontology : AmiGOchromosome, telomeric region  nuclear telomere cap complex  nuclear chromosome, telomeric region  protein binding  nucleus  nucleoplasm  telomere maintenance via telomerase  telomerase inhibitor activity  telomere capping  telomere capping  telomere capping  DEAD/H-box RNA helicase binding  telomere assembly  regulation of telomere maintenance via telomerase  negative regulation of telomere maintenance via telomerase  negative regulation of telomere maintenance via telomerase  positive regulation of telomere maintenance via telomerase  positive regulation of telomere maintenance via telomerase  oxidized purine DNA binding  DNA duplex unwinding  telomeric DNA binding  single-stranded telomeric DNA binding  single-stranded telomeric DNA binding  positive regulation of helicase activity  positive regulation of telomerase activity  positive regulation of telomerase activity  negative regulation of telomerase activity  positive regulation of DNA strand elongation  telomeric D-loop disassembly  telomeric D-loop binding  telomeric G-quadruplex DNA binding  shelterin complex  shelterin complex  shelterin complex  establishment of protein localization to telomere  G-rich strand telomeric DNA binding  regulation of DNA helicase activity  positive regulation of DNA helicase activity  G-rich single-stranded DNA binding  
Ontology : EGO-EBIchromosome, telomeric region  nuclear telomere cap complex  nuclear chromosome, telomeric region  protein binding  nucleus  nucleoplasm  telomere maintenance via telomerase  telomerase inhibitor activity  telomere capping  telomere capping  telomere capping  DEAD/H-box RNA helicase binding  telomere assembly  regulation of telomere maintenance via telomerase  negative regulation of telomere maintenance via telomerase  negative regulation of telomere maintenance via telomerase  positive regulation of telomere maintenance via telomerase  positive regulation of telomere maintenance via telomerase  oxidized purine DNA binding  DNA duplex unwinding  telomeric DNA binding  single-stranded telomeric DNA binding  single-stranded telomeric DNA binding  positive regulation of helicase activity  positive regulation of telomerase activity  positive regulation of telomerase activity  negative regulation of telomerase activity  positive regulation of DNA strand elongation  telomeric D-loop disassembly  telomeric D-loop binding  telomeric G-quadruplex DNA binding  shelterin complex  shelterin complex  shelterin complex  establishment of protein localization to telomere  G-rich strand telomeric DNA binding  regulation of DNA helicase activity  positive regulation of DNA helicase activity  G-rich single-stranded DNA binding  
NDEx NetworkPOT1
Atlas of Cancer Signalling NetworkPOT1
Wikipedia pathwaysPOT1
Orthology - Evolution
OrthoDB25913
GeneTree (enSembl)ENSG00000128513
Phylogenetic Trees/Animal Genes : TreeFamPOT1
HOVERGENQ9NUX5
HOGENOMQ9NUX5
Homologs : HomoloGenePOT1
Homology/Alignments : Family Browser (UCSC)POT1
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerPOT1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)POT1
dbVarPOT1
ClinVarPOT1
1000_GenomesPOT1 
Exome Variant ServerPOT1
ExAC (Exome Aggregation Consortium)POT1 (select the gene name)
Genetic variants : HAPMAP25913
Genomic Variants (DGV)POT1 [DGVbeta]
DECIPHERPOT1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisPOT1 
Mutations
ICGC Data PortalPOT1 
TCGA Data PortalPOT1 
Broad Tumor PortalPOT1
OASIS PortalPOT1 [ Somatic mutations - Copy number]
Cancer Gene: CensusPOT1 
Somatic Mutations in Cancer : COSMICPOT1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDPOT1
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch POT1
DgiDB (Drug Gene Interaction Database)POT1
DoCM (Curated mutations)POT1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)POT1 (select a term)
intoGenPOT1
Cancer3DPOT1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM606478    615848    616568   
Orphanet19664    19663    3560    10899   
MedgenPOT1
Genetic Testing Registry POT1
NextProtQ9NUX5 [Medical]
TSGene25913
GENETestsPOT1
Huge Navigator POT1 [HugePedia]
snp3D : Map Gene to Disease25913
BioCentury BCIQPOT1
ClinGenPOT1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD25913
Chemical/Pharm GKB GenePA134934904
Clinical trialPOT1
Miscellaneous
canSAR (ICR)POT1 (select the gene name)
Probes
Litterature
PubMed103 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMinePOT1
EVEXPOT1
GoPubMedPOT1
iHOPPOT1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Fri May 19 12:32:07 CEST 2017

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