ENSG00000128513


Homo sapiens

Features
Gene ID: ENSG00000128513
  
Biological name :POT1
  
Synonyms : POT1 / protection of telomeres 1 / Q9NUX5
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 7
Strand: -1
Band: q31.33
Gene start: 124822386
Gene end: 124929983
  
Corresponding Affymetrix probe sets: 204353_s_at (Human Genome U133 Plus 2.0 Array)   204354_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000476506
Ensembl peptide - ENSP00000476371
Ensembl peptide - ENSP00000476673
Ensembl peptide - ENSP00000477320
Ensembl peptide - ENSP00000477258
Ensembl peptide - ENSP00000476981
Ensembl peptide - ENSP00000350249
Ensembl peptide - ENSP00000377002
Ensembl peptide - ENSP00000388921
Ensembl peptide - ENSP00000397632
Ensembl peptide - ENSP00000403088
Ensembl peptide - ENSP00000416820
Ensembl peptide - ENSP00000476290
NCBI entrez gene - 25913     See in Manteia.
OMIM - 606478
RefSeq - XM_017011942
RefSeq - NM_001042594
RefSeq - NM_015450
RefSeq - XM_006715917
RefSeq - XM_011516006
RefSeq - XM_011516007
RefSeq - XM_017011941
RefSeq Peptide - NP_056265
RefSeq Peptide - NP_001036059
swissprot - Q5MJ34
swissprot - Q5MJ35
swissprot - Q9NUX5
swissprot - V9GY10
swissprot - V9GYE6
swissprot - V9GZ00
swissprot - C9JPG9
swissprot - B7Z7M5
swissprot - A8MTK3
swissprot - H7C0Z6
swissprot - H7C4C7
swissprot - A0A024R739
swissprot - V9GZ21
swissprot - Q5MJ33
Ensembl - ENSG00000128513
  
Related genetic diseases (OMIM): 615848 - {Melanoma, cutaneous malignant, susceptibility to, 10}, 615848
  616568 - {Glioma susceptibility 9}, 616568
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 pot1ENSDARG00000079915Danio rerio
 POT1ENSGALG00000008740Gallus gallus
 Pot1aENSMUSG00000029676Mus musculus
 Pot1bENSMUSG00000024174Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
No match


Protein motifs (from Interpro)
Interpro ID Name
 IPR011564  Telomeric single stranded DNA binding POT1/Cdc13
 IPR012340  Nucleic acid-binding, OB-fold
 IPR028389  Protection of telomeres protein 1
 IPR032042  Protection of telomeres protein 1, ssDNA-binding domain


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0000723 telomere maintenance IEA
 biological_processGO:0007004 telomere maintenance via telomerase IDA
 biological_processGO:0016233 telomere capping IMP
 biological_processGO:0032202 telomere assembly IDA
 biological_processGO:0032210 regulation of telomere maintenance via telomerase IGI
 biological_processGO:0032211 negative regulation of telomere maintenance via telomerase TAS
 biological_processGO:0032212 positive regulation of telomere maintenance via telomerase IMP
 biological_processGO:0032508 DNA duplex unwinding IDA
 biological_processGO:0051096 positive regulation of helicase activity IDA
 biological_processGO:0051973 positive regulation of telomerase activity IMP
 biological_processGO:0051974 negative regulation of telomerase activity IDA
 biological_processGO:0060383 positive regulation of DNA strand elongation IDA
 biological_processGO:0061820 telomeric D-loop disassembly IGI
 biological_processGO:0070200 establishment of protein localization to telomere IMP
 biological_processGO:1905774 regulation of DNA helicase activity IDA
 biological_processGO:1905776 positive regulation of DNA helicase activity IDA
 cellular_componentGO:0000781 chromosome, telomeric region IEA
 cellular_componentGO:0000783 nuclear telomere cap complex IDA
 cellular_componentGO:0000784 nuclear chromosome, telomeric region IEA
 cellular_componentGO:0005634 nucleus IDA
 cellular_componentGO:0005654 nucleoplasm TAS
 cellular_componentGO:0005694 chromosome IEA
 cellular_componentGO:0070187 shelterin complex TAS
 molecular_functionGO:0003677 DNA binding IEA
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0010521 telomerase inhibitor activity IDA
 molecular_functionGO:0017151 DEAD/H-box RNA helicase binding IPI
 molecular_functionGO:0042162 telomeric DNA binding IDA
 molecular_functionGO:0043047 single-stranded telomeric DNA binding IEA
 molecular_functionGO:0061821 telomeric D-loop binding IDA
 molecular_functionGO:0098505 G-rich strand telomeric DNA binding IDA
 molecular_functionGO:1905773 8-hydroxy-2"-deoxyguanosine DNA binding IDA
 molecular_functionGO:1990955 G-rich single-stranded DNA binding IDA


Pathways (from Reactome)
Pathway description
Meiotic synapsis
Packaging Of Telomere Ends
DNA Damage/Telomere Stress Induced Senescence


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000488 Retinopathy 
Show

 HP:0000958 Dry skin 
Show

 HP:0001480 Freckling 
Show

 HP:0001595 Hair abnormality 
Show

 HP:0002071 Extrapyramidal signs 
Show

 HP:0002861 Malignant melanoma "A malignant skin tumor of originating from melanocytes, pigment cells normally present in the epidermis and sometimes in the dermis." [HPO:curators]
Show

 HP:0002894 Pancreatic cancer 
Show

 HP:0003764 Abnormal or excess nevi 
Show

 HP:0006753 Increased gastric cancer 
Show

 HP:0100013 Neoplasia of the breast 
Show

 HP:0100763 Abnormality of the lymphatic system 
Show

  


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSG00000276180 P62805 / HIST1H4I / histone cluster 1 H4 family member i  / complex / reaction
 ENSG00000168148 Q16695 / HIST3H3 / histone cluster 3 H3  / reaction / complex






 

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