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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

TERT Gene

protein-coding GIFtS: 73
GCID: GC05M001253

telomerase reverse transcriptase

Explore 181 diseases affiliated with
TERT via

MalaCards

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Human Malady Compendium

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
About This Section

Aliases
Telomerase Reverse Transcriptase¹ ²		EC 2.7.7.49³ ⁸
EST2¹ ² ³ ⁵		DKCA2²
TCS1¹ ² ³ ⁵		DKCB4²
TP2¹ ² ³		PFBMFT1²
TRT¹ ² ³		HTRT¹
HEST2³		HEST2³
Telomerase Catalytic Subunit² ³		EC 2.7.7⁸
Telomerase-Associated Protein 2² ³

External Ids:	HGNC: 11730¹	Entrez Gene: 7015²	Ensembl: ENSG00000164362⁷	OMIM: 187270⁵	UniProtKB: O14746³

Export aliases for TERT gene to outside databases

Previous GC identifers: GC05P001643 GC05M001282 GC05M001306

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for TERT:

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)

UniProtKB/Swiss-Prot: TERT_HUMAN, O14746

Function: Telomerase is a ribonucleoprotein enzyme essential for the replication of chromosome termini in most

eukaryotes. Active in progenitor and cancer cells. Inactive, or very low activity, in normal somatic cells. Catalytic

component of the teleromerase holoenzyme complex whose main activity is the elongation of telomeres by acting as a

reverse transcriptase that adds simple sequence repeats to chromosome ends by copying a template sequence within the

RNA component of the enzyme. Catalyzes the RNA-dependent extension of 3'-chromosomal termini with the 6-nucleotide

telomeric repeat unit, 5'-TTAGGG-3'. The catalytic cycle involves primer binding, primer extension and release of

product once the template boundary has been reached or nascent product translocation followed by further extension.

More active on substrates containing 2 or 3 telomeric repeats. Telomerase activity is regulated by a number of factors

including telomerase complex-associated proteins, chaperones and polypeptide modifiers. Modulates Wnt signaling. Plays

important roles in aging and antiapoptosis

summary for TERT:

Telomerase is a ribonucleoprotein composed of an internal telomerase RNA template (TERC) and the enzyme,

telomerase reverse transcriptase (TERT). Telomerase adds small repeat sequences of DNA (TTAGGG) to the end

of chromosomes - multiple repeats of this hexanucleotide sequence over a 5kb span are known as a telomere.

During normal cellular replication, telomeres are eroded and thus protect the coding sequences of the DNA.

The erosion of telomeric sequences is thought to form the basis of the cellular clock which eventually

signals for the cell to exit the cell cycle and undergo senescence. Expression of telomerase is low in most

normal cells although it is thought to be active in embryonic cells and some rapidly dividing cells of the

immune system. Overexpression of telomerase is key component of the transformation process in many malignant

cancer cells.

Gene Wiki entry for TERT (Telomerase reverse transcriptase)

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000005.9 NC_018916.1 NT_006576.16

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the TERT gene promoter:
Egr-3 AP-1 Sp1 p53 STAT3
Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids

Search SABiosciences Chromatin IP Primers for TERT

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat TERT

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

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)
TERT gene location

GeneLoc information about chromosome 5 GeneLoc Exon Structure

GeneLoc location for GC05M001253: view genomic region (about GC identifiers)

Start:	1,253,262 bp from pter	End:	1,295,184 bp from pter
Size:	41,923 bases	Orientation:	minus strand

(According to ¹UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to ²PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: TERT_HUMAN, O14746 (See protein sequence)

Recommended Name: Telomerase reverse transcriptase

Size: 1132 amino acids; 126997 Da

Subunit: Homodimer; dimerization is required to produce a functional complex. Oligomer; can form oligomers in the

absence of the telomerase RNA template component (TERC). Catalytic subunit of the telomerase holoenzyme complex

composed minimally of TERT and TERC. The telomerase complex is composed of TERT, DKC1, WDR79/TCAB1, NOP10, NHP2, GAR1,

TEP1, EST1A, POT1 and a telomerase RNA template component (TERC). The molecular chaperone HSP90/P23 complex is

required for correct assembly and stabilization of the active telomerase. Interacts directly with HSP90A and PTGES3.

Interacts with HSPA1A; the interaction occurs in the absence of TERC and dissociates once the complex has formed.

Interacts with RAN; the interaction promotes nuclear export of TERT. Interacts with XPO1. Interacts with PTPN11; the

interaction retains TERT in the nucleus. Interacts with NCL (via RRM1 and C-terminal RRM4/Arg/Gly-rich domains); the

interaction is important for nucleolar localization of TERT. Interacts with SMARCA4 (via the bromodomain); the

interaction regulates Wnt-mediated signaling. Interacts with MCRS1 (isoform MCRS2); the interaction inhibits in vitro

telomerase activity. Interacts with PIF1; the interaction has no effect on the elongation activity of TERT. Interacts

with PML; the interaction recruits TERT to PML bodies and inhibits telomerase activity. Interacts with GNL3L (By

similarity)

Subcellular location: Nucleus, nucleolus. Nucleus, nucleoplasm. Nucleus. Chromosome, telomere. Cytoplasm. Nucleus, PML

body. Note=Shuttling between nuclear and cytoplasm depends on cell cycle, phosphorylation states, transformation and

DNA damage. Diffuse localization in the nucleoplasm. Enriched in nucleoli of certain cell types. Translocated to the

cytoplasm via nuclear pores in a CRM1/RAN-dependent manner involving oxidative stress-mediated phosphorylation at

Tyr-707. Dephosphorylation at this site by SHP2 retains TERT in the nucleus. Translocated to the nucleus by

phosphorylation by AKT

1 PDB 3D structure from and Proteopedia for TERT:

2BCK (3D)

Secondary accessions: O14783 Q2XS35 Q8N6C3 Q8NG46

Alternative splicing: 3 isoforms: O14746-1 O14746-2 O14746-3 (May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay. No experimental confirmation available)

Explore the universe of human proteins at neXtProt for TERT: NX_O14746

Post-translational modifications:

Ubiquitinated, leading to proteasomal degradation¹

Phosphorylation at Tyr-707 under oxidative stress leads to translocation of TERT to the cytoplasm and reduces its

antiapoptotic activity. Dephosphorylated by SHP2/PTPN11 leading to nuclear retention. Phosphorylation by the AKT

pathway promotes nuclear location¹

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_O14746

4/7 DME Specific Peptides for TERT (O14746) (see all 7)

LRELSEAE

LVAQCLVC

LFLDLQVN

RYWQMRPLF

TERT Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins (2 alternative transcripts):

NP_001180305.1 NP_937983.2

ENSEMBL proteins:

ENSP00000309572 ENSP00000425003 ENSP00000334346 ENSP00000426042 ENSP00000296820

Reactome Protein details: O14746
Human Recombinant Protein Products for TERT:

	Browse Purified and Recombinant Proteins at EMD Millipore
	Browse R&D Systems for human recombinant proteins
	Browse recombinant and purified proteins available from Enzo Life Sciences
	Browse OriGene full length recombinant human proteins expressed in human HEK293 cells OriGene Protein Over-expression Lysate: TERT OriGene Custom Protein Services for TERT
	GenScript Custom Purified and Recombinant Proteins Services for TERT
	Novus Biologicals TERT Lysate
	Browse Sino Biological Recombinant Proteins
	Browse ProSpec Recombinant Proteins
	Uscn Proteins for TERT

Gene Ontology (GO): 5/8 cellular component terms (GO ID links to tree view) (see all 8): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0000781	chromosome, telomeric region	IC	12135483
GO:0000783	nuclear telomere cap complex	IC	15632080
GO:0005634	nucleus	--	--
GO:0005654	nucleoplasm	TAS	--
GO:0005697	telomerase holoenzyme complex	IDA	12135483

TERT for ontologies About GeneDecksing

TERT Antibody Products:

	EMD Millipore Mono- and Polyclonal Antibodies for the study of TERT
	R&D Systems Antibodies for TERT
	OriGene Antibodies (see all 3): TERT OriGene Custom Antibody Services for TERT
	GenScript Custom Superior Antibodies Services for TERT
	Novus Biologicals TERT Antibodies
	Abcam antibodies for TERT
	Uscn Antibodies for TERT
	ThermoFisher Antibody for TERT

Assay Products for TERT:

	Browse Kits and Assays available from EMD Millipore
	OriGene Custom Immunoassay Development Browse OriGene Fluorogenic Cell Assay Kits
	Browse R&D Systems for biochemical assays
	GenScript Custom Assay Services for TERT
	Browse Enzo Life Sciences for kits & assays
	Uscn ELISAs and CLIAs for TERT

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

TERT for domains About GeneDecksing

3 InterPro domains/families:

IPR003545 Telomerase_RT

IPR000477 RVT

IPR021891 Telomerase_RBD

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

Domain: The primer grip sequence in the RT domain is required for telomerase activity and for stable association with

short telomeric primers

Domain: The RNA-interacting domain 1 (RD1)/N-terminal extension (NTE) is required for interaction with the

pseudoknot-template domain of each of TERC dimers. It contains anchor sites that bind primer nucleotides upstream of

the RNA-DNA hybrid and is thus an essential determinant of repeat addition processivity

Domain: The RNA-interacting domain 2 (RD2) is essential for both interaction with the CR4-CR5 domain of TERC and for

DNA synthesis

Similarity: Belongs to the reverse transcriptase family. Telomerase subfamily

Similarity: Contains 1 reverse transcriptase domain

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, Sirion Biotech, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, Sirion Biotech, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

Molecular Function:

UniProtKB/Swiss-Prot Summary: TERT_HUMAN, O14746