• Gene id: 25913

Gene Summary

• Gene Symbol: POT1   Gene   UCSC   Ensembl
• Aliases: CMM10, GLM9, HPOT1
• Gene name: protection of telomeres 1
• Alternate names: protection of telomeres protein 1, POT1-like telomere end-binding protein, protection of telomeres 1 homolog,
• Gene location: 7q31.33 (124929982: 124822385)     Exons: 21     NC_000007.14
• Gene summary(Entrez): 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 len
• OMIM: 606478

Protein Summary

• Protein general information: Q9NUX5  
  • Name: Protection of telomeres protein 1 (hPot1) (POT1 like telomere end binding protein)
  • Length: 634  
  • Mass: 71442
  • Tissue specificity: Ubiquitous. {ECO
• Sequence:

  MSLVPATNYIYTPLNQLKGGTIVNVYGVVKFFKPPYLSKGTDYCSVVTIVDQTNVKLTCLLFSGNYEALPIIYKN
  GDIVRFHRLKIQVYKKETQGITSSGFASLTFEGTLGAPIIPRTSSKYFNFTTEDHKMVEALRVWASTHMSPSWTL
  LKLCDVQPMQYFDLTCQLLGKAEVDGASFLLKVWDGTRTPFPSWRVLIQDLVLEGDLSHIHRLQNLTIDILVYDN
  HVHVARSLKVGSFLRIYSLHTKLQSMNSENQTMLSLEFHLHGGTSYGRGIRVLPESNSDVDQLKKDLESANLTAN
  QHSDVICQSEPDDSFPSSGSVSLYEVERCQQLSATILTDHQYLERTPLCAILKQKAPQQYRIRAKLRSYKPRRLF
  QSVKLHCPKCHLLQEVPHEGDLDIIFQDGATKTPDVKLQNTSLYDSKIWTTKNQKGRKVAVHFVKNNGILPLSNE
  CLLLIEGGTLSEICKLSNKFNSVIPVRSGHEDLELLDLSAPFLIQGTIHHYGCKQCSSLRSIQNLNSLVDKTSWI
  PSSVAEALGIVPLQYVFVMTFTLDDGTGVLEAYLMDSDKFFQIPASEVLMDDDLQKSVDMIMDMFCPPGIKIDAY
  PWLECFIKSYNVTNGTDNQICYQIFDTTVAEDVI

• Structural information:
  • Interpro: IPR012340  IPR028389  IPR032042  IPR011564  
  • PDB: 1XJV 3KJO 3KJP 5H65 5UN7
  • PDBsum: 1XJV 3KJO 3KJP 5H65 5UN7
  • DIP: 29610
  • STRING: ENSP00000350249
• Other Databases: GeneCards:  POT1  Malacards:  POT1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:2001032	regulation of double-strand break repair via nonhomologous end joining	IDA	biological process
GO:0000783	nuclear telomere cap complex	IBA	cellular component
GO:0016233	telomere capping	IBA	biological process
GO:0010521	telomerase inhibitor activity	IBA	molecular function
GO:0032210	regulation of telomere maintenance via telomerase	IBA	biological process
GO:0051974	negative regulation of telomerase activity	IBA	biological process
GO:0098505	G-rich strand telomeric DNA binding	IBA	molecular function
GO:0000723	telomere maintenance	IEA	biological process
GO:0000784	nuclear chromosome, telomeric region	IEA	cellular component
GO:0003677	DNA binding	IEA	molecular function
GO:0043047	single-stranded telomeric DNA binding	IEA	molecular function
GO:0000781	chromosome, telomeric region	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005694	chromosome	IEA	cellular component
GO:0003677	DNA binding	IEA	molecular function
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0016233	telomere capping	TAS	biological process
GO:0016233	telomere capping	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0098505	G-rich strand telomeric DNA binding	IDA	molecular function
GO:0042162	telomeric DNA binding	IDA	molecular function
GO:0000784	nuclear chromosome, telomeric region	IDA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0070187	shelterin complex	IDA	cellular component
GO:0000784	nuclear chromosome, telomeric region	IDA	cellular component
GO:0070187	shelterin complex	IDA	cellular component
GO:0070187	shelterin complex	IMP	cellular component
GO:0061849	telomeric G-quadruplex DNA binding	IDA	NOT|molecular function
GO:0098505	G-rich strand telomeric DNA binding	IDA	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0061820	telomeric D-loop disassembly	IGI	biological process
GO:0070200	establishment of protein localization to telomere	IMP	biological process
GO:0000784	nuclear chromosome, telomeric region	HDA	cellular component
GO:0051973	positive regulation of telomerase activity	IMP	biological process
GO:0032210	regulation of telomere maintenance via telomerase	IGI	biological process
GO:0017151	DEAD/H-box RNA helicase binding	IPI	molecular function
GO:0017151	DEAD/H-box RNA helicase binding	IPI	molecular function
GO:0010521	telomerase inhibitor activity	IDA	molecular function
GO:0043047	single-stranded telomeric DNA binding	IDA	molecular function
GO:0043047	single-stranded telomeric DNA binding	IDA	molecular function
GO:1905773	8-hydroxy-2'-deoxyguanosine DNA binding	IDA	molecular function
GO:0061821	telomeric D-loop binding	IDA	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:1990955	G-rich single-stranded DNA binding	IDA	molecular function
GO:0098505	G-rich strand telomeric DNA binding	IDA	molecular function
GO:0000783	nuclear telomere cap complex	IDA	cellular component
GO:0032508	DNA duplex unwinding	IDA	biological process
GO:0060383	positive regulation of DNA strand elongation	IDA	biological process
GO:0016233	telomere capping	IMP	biological process
GO:0016233	telomere capping	IGI	biological process
GO:0032212	positive regulation of telomere maintenance via telomerase	IMP	biological process
GO:0032212	positive regulation of telomere maintenance via telomerase	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0032202	telomere assembly	IDA	biological process
GO:0051096	positive regulation of helicase activity	IDA	biological process
GO:0051973	positive regulation of telomerase activity	IDA	biological process
GO:0051973	positive regulation of telomerase activity	IDA	biological process
GO:0051974	negative regulation of telomerase activity	IDA	biological process
GO:1905774	regulation of DNA helicase activity	IDA	biological process
GO:0032212	positive regulation of telomere maintenance via telomerase	IDA	biological process
GO:0032211	negative regulation of telomere maintenance via telomerase	IGI	biological process
GO:1905776	positive regulation of DNA helicase activity	IDA	biological process
GO:0070187	shelterin complex	TAS	cellular component
GO:0016233	telomere capping	TAS	biological process
GO:0032211	negative regulation of telomere maintenance via telomerase	TAS	biological process
GO:0000781	chromosome, telomeric region	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0000781	chromosome, telomeric region	IDA	cellular component
GO:0007004	telomere maintenance via telomerase	IDA	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0043047	single-stranded telomeric DNA binding	IMP	molecular function
GO:0005515	protein binding	IPI	molecular function

Diseases

Associated diseases	References
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)