• Gene id: 7015

Gene Summary

• Gene Symbol: TERT   Gene   UCSC   Ensembl
• Aliases: CMM9, DKCA2, DKCB4, EST2, PFBMFT1, TCS1, TP2, TRT, hEST2, hTRT
• Gene name: telomerase reverse transcriptase
• Alternate names: telomerase reverse transcriptase, telomerase catalytic subunit, telomerase-associated protein 2,
• Gene location: 5p15.33 (1295046: 1253166)     Exons: 16     NC_000005.10
• Gene summary(Entrez): Telomerase is a ribonucleoprotein polymerase that maintains telomere ends by addition of the telomere repeat TTAGGG. The enzyme consists of a protein component with reverse transcriptase activity, encoded by this gene, and an RNA component which serves as
• OMIM: 187270

SNPs

rs2736100

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000005.10   g.1286401C>A
NC_000005.9   g.1286516C>A
NG_009265.1   g.13647G>T
NG_055468.1   g.28C>A|SEQ=[C/A]|GENE=TERT

Protein Summary

• Protein general information: O14746  
  • Name: Telomerase reverse transcriptase (EC 2.7.7.49) (HEST2) (Telomerase catalytic subunit) (Telomerase associated protein 2) (TP2)
  • Length: 1132  
  • Mass: 126,997
  • Tissue specificity: CD8 on thymus-derived T-cells usually consists of a disulfide-linked alpha/CD8A and a beta/CD8B chain. Less frequently, CD8 can be expressed as a CD8A homodimer. A subset of natural killer cells, memory T-cells, intraepithelial lymphoc
• Sequence:

  MPRAPRCRAVRSLLRSHYREVLPLATFVRRLGPQGWRLVQRGDPAAFRALVAQCLVCVPWDARPPPAAPSFRQVS
  CLKELVARVLQRLCERGAKNVLAFGFALLDGARGGPPEAFTTSVRSYLPNTVTDALRGSGAWGLLLRRVGDDVLV
  HLLARCALFVLVAPSCAYQVCGPPLYQLGAATQARPPPHASGPRRRLGCERAWNHSVREAGVPLGLPAPGARRRG
  GSASRSLPLPKRPRRGAAPEPERTPVGQGSWAHPGRTRGPSDRGFCVVSPARPAEEATSLEGALSGTRHSHPSVG
  RQHHAGPPSTSRPPRPWDTPCPPVYAETKHFLYSSGDKEQLRPSFLLSSLRPSLTGARRLVETIFLGSRPWMPGT
  PRRLPRLPQRYWQMRPLFLELLGNHAQCPYGVLLKTHCPLRAAVTPAAGVCAREKPQGSVAAPEEEDTDPRRLVQ
  LLRQHSSPWQVYGFVRACLRRLVPPGLWGSRHNERRFLRNTKKFISLGKHAKLSLQELTWKMSVRDCAWLRRSPG
  VGCVPAAEHRLREEILAKFLHWLMSVYVVELLRSFFYVTETTFQKNRLFFYRKSVWSKLQSIGIRQHLKRVQLRE
  LSEAEVRQHREARPALLTSRLRFIPKPDGLRPIVNMDYVVGARTFRREKRAERLTSRVKALFSVLNYERARRPGL
  LGASVLGLDDIHRAWRTFVLRVRAQDPPPELYFVKVDVTGAYDTIPQDRLTEVIASIIKPQNTYCVRRYAVVQKA
  AHGHVRKAFKSHVSTLTDLQPYMRQFVAHLQETSPLRDAVVIEQSSSLNEASSGLFDVFLRFMCHHAVRIRGKSY
  VQCQGIPQGSILSTLLCSLCYGDMENKLFAGIRRDGLLLRLVDDFLLVTPHLTHAKTFLRTLVRGVPEYGCVVNL
  RKTVVNFPVEDEALGGTAFVQMPAHGLFPWCGLLLDTRTLEVQSDYSSYARTSIRASLTFNRGFKAGRNMRRKLF
  GVLRLKCHSLFLDLQVNSLQTVCTNIYKILLLQAYRFHACVLQLPFHQQVWKNPTFFLRVISDTASLCYSILKAK
  NAGMSLGAKGAAGPLPSEAVQWLCHQAFLLKLTRHRVTYVPLLGSLRTAQTQLSRKLPGTTLTALEAAANPALPS
  DFKTILD

• Structural information:
  • Protein Domains: Reverse (605-935)
  • Interpro: IPR000477  IPR021891  IPR003545  
  • Prosite: PS50878
  • PDB: 2BCK 4B18 4MNQ 5MEN 5MEO 5MEP 5MEQ 5MER 5UGW
  • PDBsum: 2BCK 4B18 4MNQ 5MEN 5MEO 5MEP 5MEQ 5MER 5UGW
  • DIP: 40646
  • STRING: ENSP00000309572
• Other Databases: GeneCards:  TERT  Malacards:  TERT

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0000049	tRNA binding	IDA	molecular function
GO:0000333	telomerase catalytic core complex	IMP	cellular component
GO:0000333	telomerase catalytic core complex	IDA	cellular component
GO:0000333	telomerase catalytic core complex	IDA	cellular component
GO:0000333	telomerase catalytic core complex	IDA	cellular component
GO:0000333	telomerase catalytic core complex	IPI	cellular component
GO:0000333	telomerase catalytic core complex	IDA	cellular component
GO:0000333	telomerase catalytic core complex	IDA	cellular component
GO:0000723	telomere maintenance	TAS	biological process
GO:0000781	chromosome, telomeric region	IC	cellular component
GO:0000783	nuclear telomere cap complex	IC	cellular component
GO:0000784	nuclear chromosome, telomeric region	IDA	cellular component
GO:0001172	transcription, RNA-templated	IDA	biological process
GO:0001223	transcription coactivator binding	IPI	molecular function
GO:0003677	DNA binding	IDA	molecular function
GO:0003720	telomerase activity	IDA	molecular function
GO:0003720	telomerase activity	IDA	molecular function
GO:0003720	telomerase activity	IDA	molecular function
GO:0003720	telomerase activity	TAS	molecular function
GO:0003720	telomerase activity	TAS	molecular function
GO:0003721	telomerase RNA reverse transcriptase activity	TAS	molecular function
GO:0003721	telomerase RNA reverse transcriptase activity	IDA	molecular function
GO:0003721	telomerase RNA reverse transcriptase activity	IDA	molecular function
GO:0003723	RNA binding	IPI	molecular function
GO:0003964	RNA-directed DNA polymerase activity	IDA	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:0005634	nucleus	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005697	telomerase holoenzyme complex	IDA	cellular component
GO:0005697	telomerase holoenzyme complex	IDA	cellular component
GO:0005697	telomerase holoenzyme complex	IPI	cellular component
GO:0005730	nucleolus	IDA	cellular component
GO:0005730	nucleolus	NAS	cellular component
GO:0006278	RNA-dependent DNA biosynthetic process	IDA	biological process
GO:0007004	telomere maintenance via telomerase	IDA	biological process
GO:0007004	telomere maintenance via telomerase	IDA	biological process
GO:0007004	telomere maintenance via telomerase	IDA	biological process
GO:0007004	telomere maintenance via telomerase	IDA	biological process
GO:0007004	telomere maintenance via telomerase	NAS	biological process
GO:0007004	telomere maintenance via telomerase	IDA	biological process
GO:0007004	telomere maintenance via telomerase	IMP	biological process
GO:0007004	telomere maintenance via telomerase	TAS	biological process
GO:0007004	telomere maintenance via telomerase	TAS	biological process
GO:0007004	telomere maintenance via telomerase	TAS	biological process
GO:0007004	telomere maintenance via telomerase	TAS	biological process
GO:0007004	telomere maintenance via telomerase	TAS	biological process
GO:0007004	telomere maintenance via telomerase	TAS	biological process
GO:0007004	telomere maintenance via telomerase	TAS	biological process
GO:0007005	mitochondrion organization	IDA	biological process
GO:0010629	negative regulation of gene expression	IDA	biological process
GO:0016779	nucleotidyltransferase activity	IDA	molecular function
GO:0022616	DNA strand elongation	IDA	biological process
GO:0030177	positive regulation of Wnt signaling pathway	IGI	biological process
GO:0030422	production of siRNA involved in RNA interference	IDA	biological process
GO:0031379	RNA-directed RNA polymerase complex	IPI	cellular component
GO:0031647	regulation of protein stability	IDA	biological process
GO:0031647	regulation of protein stability	IDA	biological process
GO:0031647	regulation of protein stability	IMP	biological process
GO:0032092	positive regulation of protein binding	IDA	biological process
GO:0032774	RNA biosynthetic process	IDA	biological process
GO:0042162	telomeric DNA binding	TAS	molecular function
GO:0042635	positive regulation of hair cycle	IEA	biological process
GO:0042645	mitochondrial nucleoid	IDA	cellular component
GO:0042803	protein homodimerization activity	IDA	molecular function
GO:0046872	metal ion binding	IEA	molecular function
GO:0051000	positive regulation of nitric-oxide synthase activity	IDA	biological process
GO:0070034	telomerase RNA binding	IDA	molecular function
GO:0070034	telomerase RNA binding	IPI	molecular function
GO:0070034	telomerase RNA binding	IPI	molecular function
GO:0070034	telomerase RNA binding	IPI	molecular function
GO:0070034	telomerase RNA binding	IPI	molecular function
GO:0070034	telomerase RNA binding	IPI	molecular function
GO:0070200	establishment of protein localization to telomere	IDA	biological process
GO:0071456	cellular response to hypoxia	IMP	biological process
GO:0071897	DNA biosynthetic process	IDA	biological process
GO:0071897	DNA biosynthetic process	IDA	biological process
GO:0090399	replicative senescence	IMP	biological process
GO:1902895	positive regulation of pri-miRNA transcription from RNA polymerase II promoter	IMP	biological process
GO:1903704	negative regulation of production of siRNA involved in RNA interference	IDA	biological process
GO:1904751	positive regulation of protein localization to nucleolus	IDA	biological process
GO:1904837	beta-catenin-TCF complex assembly	TAS	biological process
GO:1990572	TERT-RMRP complex	IDA	cellular component
GO:2000648	positive regulation of stem cell proliferation	IEA	biological process
GO:2000773	negative regulation of cellular senescence	IMP	biological process
GO:2000773	negative regulation of cellular senescence	IDA	biological process
GO:2001240	negative regulation of extrinsic apoptotic signaling pathway in absence of ligand	IMP	biological process
GO:0016605	PML body	IDA	cellular component
GO:0003720	telomerase activity	IDA	molecular function
GO:0003720	telomerase activity	IDA	molecular function
GO:0003720	telomerase activity	IDA	molecular function
GO:0003720	telomerase activity	IDA	molecular function
GO:0003721	telomerase RNA reverse transcriptase activity	IMP	molecular function
GO:0003721	telomerase RNA reverse transcriptase activity	IDA	molecular function
GO:0003721	telomerase RNA reverse transcriptase activity	IDA	molecular function
GO:0003968	RNA-directed 5'-3' RNA polymerase activity	IDA	molecular function
GO:0000049	tRNA binding	IDA	molecular function
GO:0000333	telomerase catalytic core complex	IEA	cellular component
GO:0000333	telomerase catalytic core complex	IMP	cellular component
GO:0000333	telomerase catalytic core complex	IDA	cellular component
GO:0000333	telomerase catalytic core complex	IDA	cellular component
GO:0000333	telomerase catalytic core complex	IDA	cellular component
GO:0000333	telomerase catalytic core complex	IPI	cellular component
GO:0000333	telomerase catalytic core complex	IDA	cellular component
GO:0000333	telomerase catalytic core complex	IDA	cellular component
GO:0000723	telomere maintenance	TAS	biological process
GO:0000781	chromosome, telomeric region	IEA	cellular component
GO:0000781	chromosome, telomeric region	IEA	cellular component
GO:0000781	chromosome, telomeric region	IC	cellular component
GO:0000783	nuclear telomere cap complex	IC	cellular component
GO:0000784	nuclear chromosome, telomeric region	IDA	cellular component
GO:0001172	transcription, RNA-templated	IDA	biological process
GO:0001223	transcription coactivator binding	IEA	molecular function
GO:0001223	transcription coactivator binding	IPI	molecular function
GO:0003677	DNA binding	IEA	molecular function
GO:0003677	DNA binding	IEA	molecular function
GO:0003677	DNA binding	IDA	molecular function
GO:0003720	telomerase activity	IEA	molecular function
GO:0003720	telomerase activity	IDA	molecular function
GO:0003720	telomerase activity	IDA	molecular function
GO:0003720	telomerase activity	IDA	molecular function
GO:0003720	telomerase activity	TAS	molecular function
GO:0003720	telomerase activity	TAS	molecular function
GO:0003721	telomerase RNA reverse transcriptase activity	IEA	molecular function
GO:0003721	telomerase RNA reverse transcriptase activity	TAS	molecular function
GO:0003721	telomerase RNA reverse transcriptase activity	IDA	molecular function
GO:0003721	telomerase RNA reverse transcriptase activity	IDA	molecular function
GO:0003723	RNA binding	IPI	molecular function
GO:0003964	RNA-directed DNA polymerase activity	IEA	molecular function
GO:0003964	RNA-directed DNA polymerase activity	IEA	molecular function
GO:0003964	RNA-directed DNA polymerase activity	IEA	molecular function
GO:0003964	RNA-directed DNA polymerase activity	IDA	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:0005634	nucleus	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0005654	nucleoplasm	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005694	chromosome	IEA	cellular component
GO:0005697	telomerase holoenzyme complex	IDA	cellular component
GO:0005697	telomerase holoenzyme complex	IDA	cellular component
GO:0005697	telomerase holoenzyme complex	IPI	cellular component
GO:0005730	nucleolus	IEA	cellular component
GO:0005730	nucleolus	IDA	cellular component
GO:0005730	nucleolus	NAS	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005739	mitochondrion	IEA	cellular component
GO:0006278	RNA-dependent DNA biosynthetic process	IDA	biological process
GO:0007004	telomere maintenance via telomerase	IDA	biological process
GO:0007004	telomere maintenance via telomerase	IDA	biological process
GO:0007004	telomere maintenance via telomerase	IDA	biological process
GO:0007004	telomere maintenance via telomerase	IDA	biological process
GO:0007004	telomere maintenance via telomerase	NAS	biological process
GO:0007004	telomere maintenance via telomerase	IDA	biological process
GO:0007004	telomere maintenance via telomerase	IMP	biological process
GO:0007004	telomere maintenance via telomerase	TAS	biological process
GO:0007004	telomere maintenance via telomerase	TAS	biological process
GO:0007004	telomere maintenance via telomerase	TAS	biological process
GO:0007004	telomere maintenance via telomerase	TAS	biological process
GO:0007004	telomere maintenance via telomerase	TAS	biological process
GO:0007004	telomere maintenance via telomerase	TAS	biological process
GO:0007004	telomere maintenance via telomerase	TAS	biological process
GO:0007005	mitochondrion organization	IDA	biological process
GO:0010629	negative regulation of gene expression	IDA	biological process
GO:0016605	PML body	IEA	cellular component
GO:0016740	transferase activity	IEA	molecular function
GO:0016779	nucleotidyltransferase activity	IEA	molecular function
GO:0016779	nucleotidyltransferase activity	IDA	molecular function
GO:0022616	DNA strand elongation	IDA	biological process
GO:0030177	positive regulation of Wnt signaling pathway	IEA	biological process
GO:0030177	positive regulation of Wnt signaling pathway	IGI	biological process
GO:0030422	production of siRNA involved in RNA interference	IDA	biological process
GO:0030529	intracellular ribonucleoprotein complex	IEA	cellular component
GO:0031379	RNA-directed RNA polymerase complex	IPI	cellular component
GO:0031647	regulation of protein stability	IDA	biological process
GO:0031647	regulation of protein stability	IDA	biological process
GO:0031647	regulation of protein stability	IMP	biological process
GO:0032092	positive regulation of protein binding	IDA	biological process
GO:0032774	RNA biosynthetic process	IDA	biological process
GO:0042162	telomeric DNA binding	TAS	molecular function
GO:0042635	positive regulation of hair cycle	IEA	biological process
GO:0042645	mitochondrial nucleoid	IDA	cellular component
GO:0042803	protein homodimerization activity	IDA	molecular function
GO:0046872	metal ion binding	IEA	molecular function
GO:0051000	positive regulation of nitric-oxide synthase activity	IDA	biological process
GO:0070034	telomerase RNA binding	IEA	molecular function
GO:0070034	telomerase RNA binding	IDA	molecular function
GO:0070034	telomerase RNA binding	IPI	molecular function
GO:0070034	telomerase RNA binding	IPI	molecular function
GO:0070034	telomerase RNA binding	IPI	molecular function
GO:0070034	telomerase RNA binding	IPI	molecular function
GO:0070034	telomerase RNA binding	IPI	molecular function
GO:0070200	establishment of protein localization to telomere	IDA	biological process
GO:0071456	cellular response to hypoxia	IMP	biological process
GO:0071897	DNA biosynthetic process	IDA	biological process
GO:0071897	DNA biosynthetic process	IDA	biological process
GO:0090399	replicative senescence	IMP	biological process
GO:1902895	positive regulation of pri-miRNA transcription from RNA polymerase II promoter	IMP	biological process
GO:1903704	negative regulation of production of siRNA involved in RNA interference	IDA	biological process
GO:1904751	positive regulation of protein localization to nucleolus	IDA	biological process
GO:1904837	beta-catenin-TCF complex assembly	TAS	biological process
GO:1990572	TERT-RMRP complex	IDA	cellular component
GO:2000648	positive regulation of stem cell proliferation	IEA	biological process
GO:2000773	negative regulation of cellular senescence	IMP	biological process
GO:2000773	negative regulation of cellular senescence	IDA	biological process
GO:2001240	negative regulation of extrinsic apoptotic signaling pathway in absence of ligand	IMP	biological process
GO:0016605	PML body	IDA	cellular component
GO:0003720	telomerase activity	IDA	molecular function
GO:0003720	telomerase activity	IDA	molecular function
GO:0003720	telomerase activity	IDA	molecular function
GO:0003720	telomerase activity	IDA	molecular function
GO:0003721	telomerase RNA reverse transcriptase activity	IMP	molecular function
GO:0003721	telomerase RNA reverse transcriptase activity	IDA	molecular function
GO:0003721	telomerase RNA reverse transcriptase activity	IDA	molecular function
GO:0003968	RNA-directed 5'-3' RNA polymerase activity	IDA	molecular function
GO:0000049	tRNA binding	IDA	molecular function
GO:0000333	telomerase catalytic core complex	IMP	cellular component
GO:0000333	telomerase catalytic core complex	IDA	cellular component
GO:0000333	telomerase catalytic core complex	IDA	cellular component
GO:0000333	telomerase catalytic core complex	IDA	cellular component
GO:0000333	telomerase catalytic core complex	IPI	cellular component
GO:0000333	telomerase catalytic core complex	IDA	cellular component
GO:0000333	telomerase catalytic core complex	IDA	cellular component
GO:0000723	telomere maintenance	TAS	biological process
GO:0000781	chromosome, telomeric region	IC	cellular component
GO:0000783	nuclear telomere cap complex	IC	cellular component
GO:0000784	nuclear chromosome, telomeric region	IDA	cellular component
GO:0001172	transcription, RNA-templated	IDA	biological process
GO:0001223	transcription coactivator binding	IPI	molecular function
GO:0003677	DNA binding	IDA	molecular function
GO:0003720	telomerase activity	IDA	molecular function
GO:0003720	telomerase activity	IDA	molecular function
GO:0003720	telomerase activity	IDA	molecular function
GO:0003720	telomerase activity	TAS	molecular function
GO:0003720	telomerase activity	TAS	molecular function
GO:0003721	telomerase RNA reverse transcriptase activity	TAS	molecular function
GO:0003721	telomerase RNA reverse transcriptase activity	IDA	molecular function
GO:0003721	telomerase RNA reverse transcriptase activity	IDA	molecular function
GO:0003723	RNA binding	IPI	molecular function
GO:0003964	RNA-directed DNA polymerase activity	IDA	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:0005634	nucleus	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005697	telomerase holoenzyme complex	IDA	cellular component
GO:0005697	telomerase holoenzyme complex	IDA	cellular component
GO:0005697	telomerase holoenzyme complex	IPI	cellular component
GO:0005730	nucleolus	IDA	cellular component
GO:0005730	nucleolus	NAS	cellular component
GO:0006278	RNA-dependent DNA biosynthetic process	IDA	biological process
GO:0007004	telomere maintenance via telomerase	IDA	biological process
GO:0007004	telomere maintenance via telomerase	IDA	biological process
GO:0007004	telomere maintenance via telomerase	IDA	biological process
GO:0007004	telomere maintenance via telomerase	IDA	biological process
GO:0007004	telomere maintenance via telomerase	NAS	biological process
GO:0007004	telomere maintenance via telomerase	IDA	biological process
GO:0007004	telomere maintenance via telomerase	IMP	biological process
GO:0007004	telomere maintenance via telomerase	TAS	biological process
GO:0007004	telomere maintenance via telomerase	TAS	biological process
GO:0007004	telomere maintenance via telomerase	TAS	biological process
GO:0007004	telomere maintenance via telomerase	TAS	biological process
GO:0007004	telomere maintenance via telomerase	TAS	biological process
GO:0007004	telomere maintenance via telomerase	TAS	biological process
GO:0007004	telomere maintenance via telomerase	TAS	biological process
GO:0007005	mitochondrion organization	IDA	biological process
GO:0010629	negative regulation of gene expression	IDA	biological process
GO:0016779	nucleotidyltransferase activity	IDA	molecular function
GO:0022616	DNA strand elongation	IDA	biological process
GO:0030177	positive regulation of Wnt signaling pathway	IGI	biological process
GO:0030422	production of siRNA involved in RNA interference	IDA	biological process
GO:0031379	RNA-directed RNA polymerase complex	IPI	cellular component
GO:0031647	regulation of protein stability	IDA	biological process
GO:0031647	regulation of protein stability	IDA	biological process
GO:0031647	regulation of protein stability	IMP	biological process
GO:0032092	positive regulation of protein binding	IDA	biological process
GO:0032774	RNA biosynthetic process	IDA	biological process
GO:0042162	telomeric DNA binding	TAS	molecular function
GO:0042645	mitochondrial nucleoid	IDA	cellular component
GO:0042803	protein homodimerization activity	IDA	molecular function
GO:0051000	positive regulation of nitric-oxide synthase activity	IDA	biological process
GO:0070034	telomerase RNA binding	IDA	molecular function
GO:0070034	telomerase RNA binding	IPI	molecular function
GO:0070034	telomerase RNA binding	IPI	molecular function
GO:0070034	telomerase RNA binding	IPI	molecular function
GO:0070034	telomerase RNA binding	IPI	molecular function
GO:0070034	telomerase RNA binding	IPI	molecular function
GO:0070200	establishment of protein localization to telomere	IDA	biological process
GO:0071456	cellular response to hypoxia	IMP	biological process
GO:0071897	DNA biosynthetic process	IDA	biological process
GO:0071897	DNA biosynthetic process	IDA	biological process
GO:0090399	replicative senescence	IMP	biological process
GO:1902895	positive regulation of pri-miRNA transcription from RNA polymerase II promoter	IMP	biological process
GO:1903704	negative regulation of production of siRNA involved in RNA interference	IDA	biological process
GO:1904751	positive regulation of protein localization to nucleolus	IDA	biological process
GO:1904837	beta-catenin-TCF complex assembly	TAS	biological process
GO:1990572	TERT-RMRP complex	IDA	cellular component
GO:2000773	negative regulation of cellular senescence	IMP	biological process
GO:2000773	negative regulation of cellular senescence	IDA	biological process
GO:2001240	negative regulation of extrinsic apoptotic signaling pathway in absence of ligand	IMP	biological process
GO:0016605	PML body	IDA	cellular component
GO:0003720	telomerase activity	IDA	molecular function
GO:0003720	telomerase activity	IDA	molecular function
GO:0003720	telomerase activity	IDA	molecular function
GO:0003720	telomerase activity	IDA	molecular function
GO:0003721	telomerase RNA reverse transcriptase activity	IMP	molecular function
GO:0003721	telomerase RNA reverse transcriptase activity	IDA	molecular function
GO:0003721	telomerase RNA reverse transcriptase activity	IDA	molecular function
GO:0003968	RNA-directed 5'-3' RNA polymerase activity	IDA	molecular function

KEGG pathways

Pathway id	Pathway name
hsa05200	Pathways in cancer
hsa05225	Hepatocellular carcinoma
hsa05226	Gastric cancer
hsa05166	Human T-cell leukemia virus 1 infection
hsa05165	Human papillomavirus infection

Diseases

Associated diseases	References
Cancer (esophageal)	GAD: 20453000
Cancer (glioblastoma)	GAD: 19405125
Cancer (glioma)	GAD: 19578367
Cancer (leukemia)	GAD: 19147845
Cancer (lung)	GAD: 19654303
Cancer (ovarian)	GAD: 20628624
Medulloblastoma	KEGG: H01667
Cancer	GAD: 20543847
Cancer (adenocarcinoma)	GAD: 20061363
Cancer (bladder)	GAD: 19692168
Cancer (brain)	GAD: 17410334
Cancer (cervical)	GAD: 19012493
Cancer (endometrial)	GAD: 20549820
Cancer (prostate)	GAD: 20659312
Cancer (Squamous cell)	GAD: 20802237
Cancer (testicular)	GAD: 20543847
Cancer (basal cell)	GAD: 19578363
Cancer (breast)	GAD: 19380022
Atherosclerosis	GAD: 16890917
Cardiovascular disease	GAD: 17481586
Chromosme 5p deletion syndrome	KEGG: H00764
Aplastic anemia	KEGG: H01132
Dyskeratosis congenita	KEGG: H00507
Asthma	GAD: 20462933
Bone diseases	GAD: 18931339
Endometriosis	INFBASE: 17077107
Premature ovarian failure (POF)	INFBASE: 10778807
Recurrent pregnancy loss (RPL)	INFBASE: 18765014
Teratozoospermia	MIK: 18727729
Maturation arrest	MIK: 12680324
Maturation arrest	MIK: 10731529
Male factor infertility	MIK: 24269974
Asthenozoospermia	MIK: 18727729
Male factor infertility	MIK: 18727729
Spermatogenesis defects	MIK: 16372125
Sertoli cell only syndrome (SCOS)	MIK: 10731529
Oligozoospermia	MIK: 18727729
Azoospermia	MIK: 10731529
Chronic obstructive pulmonary disease (COPD)	GAD: 19625176
Pulmonary fibrosis	GAD: 18835860
Pulmonary fibrosis	KEGG: H01299
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Associated with spermatogenesis and epigenetic regulation	MIK: 21674046
Cryptorchidism	MIK: 28606200
Male infertility	MIK: 24269974
Maturation arrest	MIK: 12680324
Oligozoospermia	MIK: 18727729
Asthenozoospermia	MIK: 18727729
Teratozoospermia	MIK: 18727729
Male infertility	MIK: 18727729
Sertoli cell-only syndrome	MIK: 10731529
Maturation arrest	MIK: 10731529
Obstructive azoospermia	MIK: 10731529
Spermatogenetic defects	MIK: 11753470
Male infertility	MIK: 11756380
Azoospermia	MIK: 10731529

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
16372125	Spermatogenic defects			39 (11 normal testes, 28 testes with defective spermatogenesis)	Male infertility
16048634	Spermatogenic defects			64 (22 normal testes, 26 testes with defective spermatogenesis, 16 testicular germ cell tumours)	Male infertility
24269974	Male infertility	TERT rs2736100, TEP1 rs1713449		1160 (580 male infertility cases, 580 matched controls)	Male infertility	TERT rs2736100 TEP1 rs1713449
16372125	Spermatogenetic defects, Male infertility			39 (11 normal testes, 28 testes with defective spermatogenesis)	Male infertility	hTERT survivin
11869375	Spermatogenetic defects, Male infertility				Male infertility
11756380	Spermatogenetic defects (maturation arrest, Sertoli cell-only syndrome), Male infertility			49 (20 maturation arrest, 12 Sertoli cell-only syndrome)	Male infertility
11753470	Spermatogenetic defects (maturation arrest, Sertoli cell-only syndrome), Male infertility			38 (12 maturation arrest, 12 Sertoli-cell-only syndrome)	Male infertility
10731529	Spermatogenetic defects, Azoospermia			33 (12 testicular biopsy specimens from patients with Sertoli cell-only syndrome, 9 from patients with maturation arrest, and 12 from patients with obstructive azoospermia)	Male infertility
12680324	Male infertility, maturation arrest			57 (47 infertile male, 10 normal testicular tissues)	Male infertility	TERT
10731529	Sertoli cell-only syndrome, maturation arrest, obstructive azoospermia, azoospermia			33 (12 testicular biopsy specimens from patients with Sertoli cell-only syndrome, 9 from patients with maturation arrest, and 12 from patients with obstructive azoospermia and normal histologic findings)	Male infertility	hTERT hTR
18727729	Oligozoospermia, asthenozoospermia, teratozoospermia, male infertility			60 male infertility	Male infertility	TP1 TP2
21674046	Associated with spermatogenesis and epigenetic regulation			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq