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Aliases & Descriptions for TERT
(According to
1 HGNC ,
2 Entrez Gene ,
3 UniProtKB/Swiss-Prot ,
4 UniProtKB/TrEMBL , 5 OMIM , 6 GeneLoc
, and/or 7 Ensembl ,
8 miRBase )About This Section
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Aliases EC 2.7.7.49 3 EST2 1 , 2 , 3 , 5 HEST2 3 TCS1 1 , 2 , 3 , 5 TP2 1 , 2 , 3 TRT 1 , 2 , 3 hEST2 1 , 2
Descriptions Telomerase catalytic subunit 2 , 3 Telomerase-associated protein 2 3 telomerase reverse transcriptase 2
Search outside databases for aliases for TERT genePrevious GC identifers: GC05P001643 GC05M001282
Summaries for TERT (According to Entrez Gene ,
Wikipedia's
Gene Wiki ,
UniProtKB/Swiss-Prot ,
and/or
UniProtKB/TrEMBL )
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EntrezGene summary for TERT : Telomerase is a ribonucleoprotein polymerase that maintains telomere ends by addition of thetelomere repeat TTAGGG. The enzyme consists of a protein component with reverse transcriptaseactivity, encoded by this gene, and an RNA component which serves as a template for the telomererepeat. Telomerase expression plays a role in cellular senescence, as it is normally repressed inpostnatal somatic cells resulting in progressive shortening of telomeres. Deregulation oftelomerase expression in somatic cells may be involved in oncogenesis. Studies in mouse suggestthat telomerase also participates in chromosomal repair, since de novo synthesis of telomererepeats may occur at double-stranded breaks. Alternatively spliced variants encoding differentisoforms of telomerase reverse transcriptase have been identified; the full-length sequence ofsome variants has not been determined. Alternative splicing at this locus is thought to be onemechanism of regulation of telomerase activity. [provided by RefSeq] UniProtKB/Swiss-Prot: TERT_HUMAN, O14746 Function : Telomerase is a ribonucleoprotein enzyme essential for the replication of chromosometermini in most eukaryotes. It elongates telomeres. It is a reverse transcriptase that adds simplesequence repeats to chromosome ends by copying a template sequence within the RNA component of theenzyme
Gene Wiki entry for TERT (Telomerase_reverse_transcriptase)
Genomic Location for TERT
(According to
GeneLoc and/or
HGNC , and/or
Entrez Gene (NCBI build 36) ,
and/or miRBase ,
Genomic Views according to
UCSC and
Ensembl ,
Transcription factor binding sites according to
SABiosciences )About This Section
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Genomic View : UCSC Golden Path with GeneCards custom track Transcription factor binding sites upstream to the TERT gene Entrez Gene cytogenetic band: 5p15.33 Ensembl cytogenetic band: 5p15.33 HGNC cytogenetic band: 5p15.33 TERT Gene in genomic location: bands according to Ensembl, locations according to
(and/or Entrez Gene and/or Ensembl if different) GeneLoc gene densities for chromosome 5 GeneLoc Exon Structure
GeneLoc location for GC05M001306:
(about GC identifiers )
Start:
1,306,282 bp from pter
End:
1,348,162 bp from pter
Size:
41,881 bases
Orientation:
minus strand
RefSeq DNA sequence: NC_000005.8 NT_006576.15 Proteins for TERT
(According to
1 UniProtKB ,
and/or Ensembl ,
Phosphorylation sites according to 2 Phosphosite ,
RefSeq according to NCBI ,
PDB rendering according to OCA and/or Proteopedia ,
Recombinant Proteins
from Invitrogen ,
Millipore ,
Sigma-Aldrich ,
R&D Systems ,
Enzo Life Sciences ,
Abnova ,
OriGene and/or,
Abcam ,
Biochemical Assays by
Invitrogen ,
Millipore ,
R&D Systems ,
Cell Signaling Technology , and/or
Enzo Life Sciences ,
Ontologies according to Gene
Ontology Consortium 01 Apr 2009 and
Entrez Gene ,
Antibodies by Invitrogen ,
Millipore ,
Sigma-Aldrich ,
R&D Systems ,
Cell Signaling Technology ,
Abcam ,
Abnova , and/or
Novus Biologicals )
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UniProtKB/Swiss-Prot: TERT_HUMAN, O14746 (See
protein sequence )Recommended Name: Telomerase reverse transcriptase Size : 1132 amino acids; 126997 Da
Subunit : Catalytic subunit of the telomerase holoenzyme complex at least composed of TERT, DKC1,WDR79/TCAB1, NOP10, NHP2, GAR1, TEP1, EST1A, POT1 and a telomerase RNA template component (TERC).Interacts with PINX1 and MCRS1
Subcellular location : Nucleus. Telomere
PDB structures from and Proteopedia : 2BCK (3D)
 
Secondary accessions : O14783 Q2XS35 Q8N6C3 Q8NG46Alternative splicing : 3 isoforms : O14746-1 O14746-2 O14746-3
Post-translational modifications:
View phosphorylation sites using PhosphoSite 2
REFSEQ proteins (2 alternative transcripts):
NP_937983.2 NP_937986.1 ENSEMBL proteins: ENSP00000296820 ENSP00000309572 ENSP00000334346 Human Recombinant Proteins Browse Origene for full length recombinant human proteins expressed in human HEK293 cells 5/6 Gene Ontology (GO) cellular component terms (links to tree view) (see all 6
):
About this table Antibodies for TERT: Assays for TERT:
Protein
Domains/ Families for TERT(According to InterPro , ProtoNet ,
UniProtKB , and/or BLOCKS ,
Sets of similar genes according to GeneDecks )
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Graphical View of Domain Structure for InterPro Entry O14746 ProtoNet protein and cluster: O14746
1 Blocks protein family : IPB003545 Telomere reverse transcriptase signature UniProtKB/Swiss-Prot: TERT_HUMAN, O14746 Similarity : Belongs to the reverse transcriptase family. Telomerase subfamilySimilarity : Contains 1 reverse transcriptase domain
Gene Function for TERT
(According to MGI Jun 06 2009, UniProtKB ,
IUBMB ,and/or Genatlas ,
shRNA from
OriGene ,
Sigma-Aldrich , RNAi from
Sigma-Aldrich ,
RNAi Products ,
Clones , and
Q-PCR Products
from Invitrogen ,
Millipore ,
OriGene , and/or
Abnova ,
siRNAs from
Applied Biosystems ,
SYBR primers from OriGene ,
Cell-based Assays from Millipore ,
Ontologies according to Gene Ontology Consortium 01 Apr 2009 via
Entrez Gene .)
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               OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 4 ): NM_003219 Applied Biosystems Silencer ® siRNAs for TERT Sigma-Aldrich siRNA and siRNA Panels for TERT Sigma-Aldrich shRNA for TERT Explore Sigma-Aldrich super-pooled esiRNAs                OriGene GFP tagged cDNA clones in CMV expression vector (see all 2 ): NM_198253                                  Myc/DDK tagged cDNA clones in CMV expression vector (see all 2 ): NM_198253                                  untagged cDNA clones in CMV expression vector (see all 2 ): NM_198253  Primers: Browse
Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers               OriGene genome-wide validated SYBR primer pairs: NM_003219 UniProtKB/Swiss-Prot: TERT_HUMAN, O14746 Function : Telomerase is a ribonucleoprotein enzyme essential for the replication of chromosometermini in most eukaryotes. It elongates telomeres. It is a reverse transcriptase that adds simplesequence repeats to chromosome ends by copying a template sequence within the RNA component of theenzyme Catalytic activity : Deoxynucleoside triphosphate + DNA(n) = diphosphate + DNA(n+1)Enzyme Number (IUBMB): EC 2.7.7.49
Genatlas biochemistry entry for TERT :telomerase,catalytic subunit,yeast Est2 homolog,100kDa,involved in telomere maintenance,putativeup-regulated c-Myc target gene,protein activity deleted in cancer,repressed in normal tissues
6 MGI mutant phenotypes (inferred from 5 alleles ) (MGI details for Tert) :5/8 Gene Ontology (GO) molecular function terms (links to tree view) (see all 8
):
About this table
Pathways & Interactions for TERT
(Pathways according to Invitrogen
(maps by GeneGo ),
Millipore ,
Cell Signaling Technology ,
Sigma-Aldrich ,
KEGG
and/or UniProtKB ,
Sets of similar genes according to GeneDecks ,
Proteins Network according to
SABiosciences ,
Interactions according to 1 UniProtKB ,
2 MINT , and/or
3 STRING ,
with links to IntAct and
Ensembl ,
Ontologies according to Gene Ontology Consortium 01 Apr 2009 via
Entrez Gene .)
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Gene Network CentralTM Interacting Genes and Proteins Network for TERT 5/106 Interacting proteins for TERT (O14746 1 , 2 ENSP00000309572 3 ) via UniProtKB, MINT, and/or STRING (see all 106
)About this table 5/6 Gene Ontology (GO) biological process terms (links to tree view) (see all 6
):
About this table
Drugs & Compounds for TERT (Chemical Compounds according to UniProtKB , Enzo Life Sciences ,
Sigma-Aldrich , Tocris Bioscience , and/or
Novoseek and Drugs according to
Enzo Life Sciences and/or
PharmGKB )
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Enzo Life Sciences drugs & compounds for TERT
Sigma-Aldrich Small Molecules for TERT:Inhibitor
Compounds for TERT available from Tocris Bioscience Compound Action
CAS
number BIBR 1532 Selective telomerase inhibitor [321674-73-1] Costunolide Inhibitor of human telomerase activity [553-21-9]
About this table 10/18 Novoseek chemical compound relationships for TERT gene (see all 18
)
Compound
Score
Articles
PubMed IDs for Articles with Shared Sentences (# sentences)
tin(2+)
62.08
7
12007281 (2), 11494028 (1), 19419704 (1), 18669893 (1)
lipofectamine
39.27
1
17495775 (1)
oligonucleotide
18.72
4
12838868 (1), 17991312 (1), 12519411 (1)
wortmannin
5.85
2
16093915 (1)
zinc
3.11
5
8961924 (2), 15983032 (1)
cdcs
1.47
2
16953888 (1), 12629597 (1)
nitric oxide
1.17
3
17943236 (1), 11679409 (1), 12201830 (1)
oxygen
0.29
4
14963003 (2), 12824159 (1), 17943236 (1)
calcium
0.22
3
15375555 (1), 17720143 (1), 17197440 (1)
lipid
0.07
1
18802925 (1)
About this table
Transcripts for TERT(GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 219 Homo sapiens; Jun 2 2009) or GenBank , RefSeq according to Entrez Gene ,
DOTS (version 10), and/or
AceView ,
non coding RNAs according to
RNAdb ,
ESTs according to GeneTide ,
exon structure from GeneLoc ,
alternative splicing isoforms according to ASD and/or
ECgene ,
RNAi Products from Invitrogen ,
Millipore , and/or
Abnova ,
siRNAs from Applied Biosystems ,
Sigma-Aldrich ,
shRNA from
Sigma-Aldrich ,
OriGene ,
Tagged/untagged cDNA clones from
OriGene , Expression Assays from Applied Biosystems )About This Section
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               OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 4 ): NM_003219 Sigma-Aldrich siRNA and siRNA Panels for TERT Sigma-Aldrich shRNA for TERT Explore Sigma-Aldrich super-pooled esiRNAs
Applied Biosystems Silencer ® siRNAs: NM_198253 NM_198255
REFSEQ mRNAs for TERT gene (2 alternative transcripts): NM_198253.2 NM_198255.2
Applied Biosystems TaqMan ® Gene Expression Assays: NM_198253 NM_198255
               OriGene GFP tagged cDNA clones in CMV expression vector (see all 2 ): NM_198253                                  Myc/DDK tagged cDNA clones in CMV expression vector (see all 2 ): NM_198253                                  untagged cDNA clones in CMV expression vector (see all 2 ): NM_198253  
Additional cDNA sequence: AB085628.1 AF015950.1 AF018167.1 BC062321.1
3 DOTS entries : DT.108983 DT.101961620 DT.40268927
24/29 AceView cDNA sequences (see all 29
):AF015950 AB086379 NM_198253 NM_198255 NM_003219 AW276315 AX810038 NM_198254 AB085628 AB086950 AI824948 BC062321 AX810036 BE514188 AA299878 BM453198 AX810043 AA281296 AA311750 AW270031 AF018167 BM824748 BE514070 AA811084
highest scoring ESTs for TERT :AF015950 AB085628 AF018167 AA281296 AA748707 AA811084 AB086379 AB086950 AI824948 AW270031
Unigene Cluster for TERT: Telomerase reverse transcriptase Hs.492203 [show with all ESTs ] Unigene Representative Sequence: AF018167 GeneLoc Exon Structure 5 Alternative Splicing Database (ASD) splice patterns (SP) for TERT ExUns: 1a · 1b ^ 2 ^ 3a · 3b ^ 4 ^ 5 ^ 6a · 6b ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16a · 16b SP1 :       -                                   SP2 :       -                     -               SP3 :       -             -   -       -               SP4 :       -         -     -   -       -               SP5 :                   -   -                    
About this scheme ECgene alternative splicing isoforms for TERT 3 Ensembl transcripts including schematic representations : ENST00000296820
ENST00000310581
ENST00000334602
Expression for TERT
(Experimental results according to
1 GeneNote
and GNF BioGPS ,
probe sets-to-genes annotations according to
2 GeneAnnot ,
3 GeneTide ,
Sets of similar genes according to GeneDecks ,
Electronic Northern calculations according to data from
UniGene (Build 219 Homo sapiens),
SAGE tags according to
CGAP ,
plus additional links to
SOURCE , and/or
GNF
BioGPS , and/or
EXPOLDB , and/or
UniProtKB ,
Expression Assays from
Applied Biosystems
)
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TERT expression in normal and diseased human tissues Applied Biosystems TaqMan ® Gene Expression Assays for TERT 1 / 2 / 3
4 probe-sets matching TERT gene Data from
(Publications) and GNF BioGPS About these images About these images CGAP SAGE TAG: TCCGGCTGAASOURCE GeneReport for Unigene cluster: Hs.492203 Expression variation in blood from EXPOLDB for TERT
Orthologs for TERT
(Orthologs according to
1,2 HomoloGene (2 older version, for species not in 1 newer version),
3 euGenes ,
4 SGD
and/or
5 MGI Jun 06 2009,
with possible further links to
Flybase
and/or
WormBase ,
Gene Trees according to Ensembl )
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Orthologs for TERT gene from 5/11 species (see all 11
)
About this table Species with no ortholog for TERT ENSEMBL Gene Tree for TERT Paralogs for TERT (Paralogs according to 1 HomoloGene and 2 Ensembl , Pseudogenes according to 3 Pseudogene.org )About This Section
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SNPs/Variants for TERT (According to the
1 NCBI SNP Database ,
2 Ensembl ,
3 PupaSUITE , and
UniProtKB ,
Linkage Disequilibrium by HapMap ,
Genotyping Reagents from
Applied Biosystems )
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HapMap Linkage Disequilibrium images for TERT (up to first 250kb)
Disorders & Mutations for TERT
(in which this Gene is Involved, According to
OMIM, UniProtKB ,
Novoseek , PharmGKB ,
Genatlas , GeneTests ,
Blood group antigen gene mutations by BGMUT ,
HGMD, GAD ,
HuGE Navigator ,
BCGD ,
and/or TGDB .)
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OMIM: 187270 disorders : 609135 178500 127550 UniProtKB/Swiss-Prot: TERT_HUMAN, O14746
Activation of telomerase has been implicated in cell immortalization and cancer cellpathogenesis Defects in TERT are associated with susceptibilty to aplastic anemia (AA) [MIM:609135]. AAis a rare disease in which the reduction of the circulating blood cells results from damage to thestem cell pool in bone marrow. In most patients, the stem cell lesion is caused by an autoimmuneattack. T-lymphocytes, activated by an endogenous or exogenous, and most often unknown antigenicstimulus, secrete cytokines, including IFN-gamma, which would in turn be able to suppresshematopoiesis Genetic variations in TERT are associated with coronary artery disease (CAD) Defects in TERT are a cause of dyskeratosis congenita autosomal dominant (ADDKC)[MIM:127550]; also known as dyskeratosis congenita Scoggins type. ADDKC is a rare, progressivebone marrow failure syndrome characterized by the triad of reticulated skin hyperpigmentation,nail dystrophy, and mucosal leukoplakia. Early mortality is often associated with bone marrowfailure, infections, fatal pulmonary complications, or malignancy Defects in TERT increases susceptibility to idiopathic pulmonary fibrosis [MIM:178500].Idiopathic pulmonary fibrosis is an adult-onset, lethal, scarring lung disease of unknownetiology. Its clinical features are shortness of breath, radiographically evident diffusepulmonary infiltrates, and varying degrees in inflammation, fibrosis, or both on biopsy. It israpidly progressive and characterized by sequential acute lung injury with subsequent scarring andendstage lung disease
10/96 Novoseek disease relationships for TERT gene (see all 96
)
Disease
Score
Articles
PubMed IDs for Articles with Shared Sentences (# sentences)
dyskeratosis congenita
82.03
8
15885610 (2), 17454774 (1), 17468339 (1), 19415813 (1) (see all 8 )
dyskeratosis congenita, autosomal dominant
78.82
6
16247010 (1), 17392301 (1), 18460650 (1), 17875000 (1) (see all 5 )
cancer
72.85
190
11934015 (4), 14532739 (4), 11034071 (2), 12218171 (2) (see all 99 )
tumors
69.18
226
10973321 (5), 17130181 (5), 18204433 (5), 17656250 (4) (see all 99 )
hepatocellular carcinoma
56.00
28
18753050 (2), 11944954 (2), 15143919 (2), 17244456 (1) (see all 24 )
laryngeal squamous cell carcinoma
55.36
12
17592663 (2), 17219990 (2), 15823813 (2), 11911285 (2) (see all 7 )
benign meningioma
49.76
2
17227292 (1), 17415213 (1)
precancerous lesions
47.57
8
10429648 (2), 14716817 (2), 11906620 (1), 10779229 (1) (see all 5 )
neoplastic transformation
44.48
4
11454711 (1), 10473565 (1), 17827040 (1)
anemia aplastic
42.64
12
15814878 (2), 15885610 (2), 17625368 (1), 17640862 (1) (see all 8 )
About this table GeneTests: TERT Familial Pulmonary Fibrosis Human Gene Mutation Database : TERT Genetic Association Database: TERT Human Genome Epidemiology Navigator: TERT (22 documents)
Medical News for TERT (Possibly Related Articles in
Doctor's Guide )
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Publications for TERT (in
PubMed .
Associations of this gene to articles via
1 Novoseek ,
2 HGNC ,
3 Entrez Gene ,
4 UniProtKB/Swiss-Prot ,
5 UniProtKB/TrEMBL ,
6 GAD , and/or
7 PharmGKB )
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10/1072 PubMed articles for TERT gene (see all 1072
): Mutations in TERT, the gene for telomerase reverse transcriptase, in aplastic anemia. (PubMed id 15814878) 1, 3, 4, 6 Yamaguchi H.... Young N.S. (2005) Telomerase catalytic subunit homologs from fission yeast and human. (PubMed id 9252327) 2, 3, 4 Nakamura T.M.... Cech T.R. (1997) Adult-onset pulmonary fibrosis caused by mutations in telomerase. (PubMed id 17460043) 1, 3, 4 Tsakiri K.D.... Garcia C.K. (2007) Human telomerase contains evolutionarily conserved catalytic and structural subunits. (PubMed id 9389643) 1, 3, 4 Harrington L.... Robinson M.O. (1997) hEST2, the putative human telomerase catalytic subunit gene, is up- regulated in tumor cells and during immortalization. (PubMed id 9288757) 1, 3, 4 Meyerson M.... Weinberg R.A. (1997) Phosphoproteome analysis of the human mitotic spindle. (PubMed id 16565220) 3, 4 Nousiainen M.... Koerner R. (2006) Coronary artery disease and a functional polymorphism of hTERT. (PubMed id 16890917) 3, 4 Matsubara Y.... Ikeda Y. (2006) Quantitative phosphoproteome analysis using a dendrimer conjugation chemistry and tandem mass spectrometry. (PubMed id 16094384) 3, 4 Tao W.A.... Aebersold R. (2005) Differential alternative splicing expressions of telomerase reverse transcriptase in gastrointestinal cell lines. (PubMed id 14654914) 3, 4 Nagao K.... Hisatomi H. (2004) Human MCRS2, a cell-cycle-dependent protein, associates with LPTS/PinX1 and reduces the telomere length. (PubMed id 15044100) 3, 4 Song H....Zhao M. (2004)
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Genome Databases showing TERT
(According to
Entrez Gene ,
HGNC ,
AceView ,
euGenes ,
Ensembl ,
miRBase ,
ECgene ,
and/or
H-InvDB )
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Other Databases showing TERT
(According to HUGE )
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Specialized Databases showing TERT (According to ATLAS , HORDE , IMGT , MTDB, LEIDEN , UniProtKB/Swiss-Prot , and/or UniProtKB/TrEMBL ,Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot )About This Section
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-- Services for TERT (Reagents available from Applied Biosystems , Antibodies and assays by Cell
Signaling Technology , Abcam , Novus Biologicals ,Sigma-Aldrich , R&D Systems , Millipore , Abnova , and/or Invitrogen , Clones available from OriGene ,and/or Invitrogen , Drugs and/or compounds by Sigma-Aldrich , Enzo Life Sciences , and/or Tocris Bioscience )About This Section
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Products for TERT:
Tocris compounds for TERT
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GeneCards Homepage - Last full update: 2 Jul 2009
Incremental update: 13 Oct 2009