Endometriosis Knowledgebase


A repository for genes associated with endometriosis

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Gene id 7015
Gene Summary        Protein Summary    Gene ontology    KEGG pathways    Diseases    PubMed references    

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 (1295625: 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 a template for the telomere repeat. Telomerase expression plays a role in cellular senescence, as it is normally repressed in postnatal somatic cells resulting in progressive shortening of telomeres. Deregulation of telomerase expression in somatic cells may be involved in oncogenesis. Studies in mouse suggest that telomerase also participates in chromosomal repair, since de novo synthesis of telomere repeats may occur at double-stranded breaks. Alternatively spliced variants encoding different isoforms of telomerase reverse transcriptase have been identified; the full-length sequence of some variants has not been determined. Alternative splicing at this locus is thought to be one mechanism of regulation of telomerase activity. [provided by RefSeq, Jul 2008]
OMIM 187270

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: Expressed at a high level in thymocyte subpopulations, at an intermediate level in tonsil T-lymphocytes, and at a low to undetectable level in peripheral blood T-lymphocytes. {ECO

Sequence MPRAPRCRAVRSLLRSHYREVLPLATFVRRLGPQGWRLVQRGDPAAFRALVAQCLVCVPWDARPPPAAPSFRQVS
CLKELVARVLQRLCERGAKNVLAFGFALLDGARGGPPEAFTTSVRSYLPNTVTDALRGSGAWGLLLRRVGDDVLV
HLLARCALFVLVAPSCAYQVCGPPLYQLGAATQARPPPHASGPRRRLGCERAWNHSVREAGVPLGLPAPGARRRG
GSASRSLPLPKRPRRGAAPEPERTPVGQGSWAHPGRTRGPSDRGFCVVSPARPAEEATSLEGALSGTRHSHPSVG
RQHHAGPPSTSRPPRPWDTPCPPVYAETKHFLYSSGDKEQLRPSFLLSSLRPSLTGARRLVETIFLGSRPWMPGT
PRRLPRLPQRYWQMRPLFLELLGNHAQCPYGVLLKTHCPLRAAVTPAAGVCAREKPQGSVAAPEEEDTDPRRLVQ
LLRQHSSPWQVYGFVRACLRRLVPPGLWGSRHNERRFLRNTKKFISLGKHAKLSLQELTWKMSVRDCAWLRRSPG
VGCVPAAEHRLREEILAKFLHWLMSVYVVELLRSFFYVTETTFQKNRLFFYRKSVWSKLQSIGIRQHLKRVQLRE
LSEAEVRQHREARPALLTSRLRFIPKPDGLRPIVNMDYVVGARTFRREKRAERLTSRVKALFSVLNYERARRPGL
LGASVLGLDDIHRAWRTFVLRVRAQDPPPELYFVKVDVTGAYDTIPQDRLTEVIASIIKPQNTYCVRRYAVVQKA
AHGHVRKAFKSHVSTLTDLQPYMRQFVAHLQETSPLRDAVVIEQSSSLNEASSGLFDVFLRFMCHHAVRIRGKSY
VQCQGIPQGSILSTLLCSLCYGDMENKLFAGIRRDGLLLRLVDDFLLVTPHLTHAKTFLRTLVRGVPEYGCVVNL
RKTVVNFPVEDEALGGTAFVQMPAHGLFPWCGLLLDTRTLEVQSDYSSYARTSIRASLTFNRGFKAGRNMRRKLF
GVLRLKCHSLFLDLQVNSLQTVCTNIYKILLLQAYRFHACVLQLPFHQQVWKNPTFFLRVISDTASLCYSILKAK
NAGMSLGAKGAAGPLPSEAVQWLCHQAFLLKLTRHRVTYVPLLGSLRTAQTQLSRKLPGTTLTALEAAANPALPS
DFKTILD
Structural information
Protein Domains
Reverse (605-935)

Motifs
Bipartite nuclear(222-240)
TFL (328-333)
binding. {ECO:0000250|UniProtKB:Q4KTA7}.(in-RNA)
Interpro:  IPR000477 IPR021891 IPR003545
Prosite:   PS50878

Pfam:  
PF00078 PF12009

PDB:  
2BCK 4B18 4MNQ 5MEN 5MEP 5MEQ 5MER 5UGW
PDBsum:   2BCK 4B18 4MNQ 5MEN 5MEP 5MEQ 5MER 5UGW

DIP:  
40646
MINT:   133963
STRING:   ENSP00000309572;
Other Databases GeneCards:  TERT;  Malacards:  TERT

Gene ontology


GO accessionTerm nameEvidence codeGo 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 reg
ion
IC cellular_component
GO:0000783 nuclear telomere cap comp
lex
IC cellular_component
GO:0000784 nuclear chromosome, telom
eric region
IDA cellular_component
GO:0001172 transcription, RNA-templa
ted
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 tr
anscriptase activity
TAS molecular_function
GO:0003721 telomerase RNA reverse tr
anscriptase activity
IDA molecular_function
GO:0003721 telomerase RNA reverse tr
anscriptase activity
IDA molecular_function
GO:0003723 RNA binding
IPI molecular_function
GO:0003964 RNA-directed DNA polymera
se 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 com
plex
IDA cellular_component
GO:0005697 telomerase holoenzyme com
plex
IDA cellular_component
GO:0005697 telomerase holoenzyme com
plex
IPI cellular_component
GO:0005730 nucleolus
IDA cellular_component
GO:0005730 nucleolus
NAS cellular_component
GO:0006278 RNA-dependent DNA biosynt
hetic 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 organizatio
n
IDA biological_process
GO:0010629 negative regulation of ge
ne expression
IDA biological_process
GO:0016779 nucleotidyltransferase ac
tivity
IDA molecular_function
GO:0022616 DNA strand elongation
IDA biological_process
GO:0030177 positive regulation of Wn
t signaling pathway
IGI biological_process
GO:0030422 production of siRNA invol
ved in RNA interference
IDA biological_process
GO:0031379 RNA-directed RNA polymera
se complex
IPI cellular_component
GO:0031647 regulation of protein sta
bility
IDA biological_process
GO:0031647 regulation of protein sta
bility
IDA biological_process
GO:0031647 regulation of protein sta
bility
IMP biological_process
GO:0032092 positive regulation of pr
otein 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 ha
ir 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 ni
tric-oxide synthase activ
ity
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 hypo
xia
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 pr
i-miRNA transcription fro
m RNA polymerase II promo
ter
IMP biological_process
GO:1903704 negative regulation of pr
oduction of siRNA involve
d in RNA interference
IDA biological_process
GO:1904751 positive regulation of pr
otein localization to nuc
leolus
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 st
em cell proliferation
IEA biological_process
GO:2000773 negative regulation of ce
llular senescence
IMP biological_process
GO:2000773 negative regulation of ce
llular senescence
IDA biological_process
GO:2001240 negative regulation of ex
trinsic apoptotic signali
ng 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 tr
anscriptase activity
IMP molecular_function
GO:0003721 telomerase RNA reverse tr
anscriptase activity
IDA molecular_function
GO:0003721 telomerase RNA reverse tr
anscriptase activity
IDA molecular_function
GO:0003968 RNA-directed 5'-3' RNA po
lymerase 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 reg
ion
IEA cellular_component
GO:0000781 chromosome, telomeric reg
ion
IEA cellular_component
GO:0000781 chromosome, telomeric reg
ion
IC cellular_component
GO:0000783 nuclear telomere cap comp
lex
IC cellular_component
GO:0000784 nuclear chromosome, telom
eric region
IDA cellular_component
GO:0001172 transcription, RNA-templa
ted
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 tr
anscriptase activity
IEA molecular_function
GO:0003721 telomerase RNA reverse tr
anscriptase activity
TAS molecular_function
GO:0003721 telomerase RNA reverse tr
anscriptase activity
IDA molecular_function
GO:0003721 telomerase RNA reverse tr
anscriptase activity
IDA molecular_function
GO:0003723 RNA binding
IPI molecular_function
GO:0003964 RNA-directed DNA polymera
se activity
IEA molecular_function
GO:0003964 RNA-directed DNA polymera
se activity
IEA molecular_function
GO:0003964 RNA-directed DNA polymera
se activity
IEA molecular_function
GO:0003964 RNA-directed DNA polymera
se 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 com
plex
IDA cellular_component
GO:0005697 telomerase holoenzyme com
plex
IDA cellular_component
GO:0005697 telomerase holoenzyme com
plex
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 biosynt
hetic 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 organizatio
n
IDA biological_process
GO:0010629 negative regulation of ge
ne expression
IDA biological_process
GO:0016605 PML body
IEA cellular_component
GO:0016740 transferase activity
IEA molecular_function
GO:0016779 nucleotidyltransferase ac
tivity
IEA molecular_function
GO:0016779 nucleotidyltransferase ac
tivity
IDA molecular_function
GO:0022616 DNA strand elongation
IDA biological_process
GO:0030177 positive regulation of Wn
t signaling pathway
IEA biological_process
GO:0030177 positive regulation of Wn
t signaling pathway
IGI biological_process
GO:0030422 production of siRNA invol
ved in RNA interference
IDA biological_process
GO:0030529 intracellular ribonucleop
rotein complex
IEA cellular_component
GO:0031379 RNA-directed RNA polymera
se complex
IPI cellular_component
GO:0031647 regulation of protein sta
bility
IDA biological_process
GO:0031647 regulation of protein sta
bility
IDA biological_process
GO:0031647 regulation of protein sta
bility
IMP biological_process
GO:0032092 positive regulation of pr
otein 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 ha
ir 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 ni
tric-oxide synthase activ
ity
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 hypo
xia
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 pr
i-miRNA transcription fro
m RNA polymerase II promo
ter
IMP biological_process
GO:1903704 negative regulation of pr
oduction of siRNA involve
d in RNA interference
IDA biological_process
GO:1904751 positive regulation of pr
otein localization to nuc
leolus
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 st
em cell proliferation
IEA biological_process
GO:2000773 negative regulation of ce
llular senescence
IMP biological_process
GO:2000773 negative regulation of ce
llular senescence
IDA biological_process
GO:2001240 negative regulation of ex
trinsic apoptotic signali
ng 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 tr
anscriptase activity
IMP molecular_function
GO:0003721 telomerase RNA reverse tr
anscriptase activity
IDA molecular_function
GO:0003721 telomerase RNA reverse tr
anscriptase activity
IDA molecular_function
GO:0003968 RNA-directed 5'-3' RNA po
lymerase 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 reg
ion
IC cellular_component
GO:0000783 nuclear telomere cap comp
lex
IC cellular_component
GO:0000784 nuclear chromosome, telom
eric region
IDA cellular_component
GO:0001172 transcription, RNA-templa
ted
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 tr
anscriptase activity
TAS molecular_function
GO:0003721 telomerase RNA reverse tr
anscriptase activity
IDA molecular_function
GO:0003721 telomerase RNA reverse tr
anscriptase activity
IDA molecular_function
GO:0003723 RNA binding
IPI molecular_function
GO:0003964 RNA-directed DNA polymera
se 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 com
plex
IDA cellular_component
GO:0005697 telomerase holoenzyme com
plex
IDA cellular_component
GO:0005697 telomerase holoenzyme com
plex
IPI cellular_component
GO:0005730 nucleolus
IDA cellular_component
GO:0005730 nucleolus
NAS cellular_component
GO:0006278 RNA-dependent DNA biosynt
hetic 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 organizatio
n
IDA biological_process
GO:0010629 negative regulation of ge
ne expression
IDA biological_process
GO:0016779 nucleotidyltransferase ac
tivity
IDA molecular_function
GO:0022616 DNA strand elongation
IDA biological_process
GO:0030177 positive regulation of Wn
t signaling pathway
IGI biological_process
GO:0030422 production of siRNA invol
ved in RNA interference
IDA biological_process
GO:0031379 RNA-directed RNA polymera
se complex
IPI cellular_component
GO:0031647 regulation of protein sta
bility
IDA biological_process
GO:0031647 regulation of protein sta
bility
IDA biological_process
GO:0031647 regulation of protein sta
bility
IMP biological_process
GO:0032092 positive regulation of pr
otein 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 ni
tric-oxide synthase activ
ity
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 hypo
xia
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 pr
i-miRNA transcription fro
m RNA polymerase II promo
ter
IMP biological_process
GO:1903704 negative regulation of pr
oduction of siRNA involve
d in RNA interference
IDA biological_process
GO:1904751 positive regulation of pr
otein localization to nuc
leolus
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 ce
llular senescence
IMP biological_process
GO:2000773 negative regulation of ce
llular senescence
IDA biological_process
GO:2001240 negative regulation of ex
trinsic apoptotic signali
ng 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 tr
anscriptase activity
IMP molecular_function
GO:0003721 telomerase RNA reverse tr
anscriptase activity
IDA molecular_function
GO:0003721 telomerase RNA reverse tr
anscriptase activity
IDA molecular_function
GO:0003968 RNA-directed 5'-3' RNA po
lymerase activity
IDA molecular_function

KEGG pathways

hsa05166  HTLV-I infection

Diseases

Associated diseases References
Aplastic anemia KEGG: H01132
Asthenozoospermia PMID: 18727729
Azoospermia PMID: 10731529
Bone marrow diseases PMID: 17936651
Cancer PMID: 21827660
Cri du chat KEGG: H00764
Dyskeratosis congenita KEGG: H00507
Endometriosis PMID: 17077107
Idiopathic pulmonary fibrosis KEGG: H01299
Male infertility PMID: 24269974
Maturation arrest (MA) PMID: 10731529
Medulloblastoma KEGG: H01667
Endometriosis INFBASE17077107
Myocardial infarction PMID: 16890917
Oligozoospermia PMID: 18727729
Premature ovarian failure ( POF) PMID: 10778807
Recurrent reproductive failure PMID: 18765014
Sertoli cell-only syndrome (SCOS) PMID: 10731529
Spermatogenetic defects PMID: 11756380
Teratozoospermia PMID: 18727729

PubMed references


PMID Condition Mutation Ethnicity Population details Infertility_type Associated_genes Abstract
17077107 Endometrio
sis

60 (30 endometr
iosis patients,
30 patients wi
thout endometri
osis)
hTERT
Show abstract