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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, and an RNA component, encoded by this gene, that 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. Mutations in this gene cause autosomal dominant dyskeratosis congenita, and may also be associated with some cases of aplastic anemia. [provided by RefSeq, Jul 2008]
TERC (Telomerase RNA Component) is an RNA Gene, and is affiliated with the lncRNA class. Diseases associated with TERC include Pulmonary Fibrosis And/Or Bone Marrow Failure, Telomere-Related, 2 and Dyskeratosis Congenita, Autosomal Dominant 1. Among its related pathways are Gastric cancer and Pathways in cancer.
GeneHancer (GH) Identifier | GH Type | GH Score |
GH Sources | Gene Association Score | Total Score | TSS distance (kb) | Number of Genes Away | Size (kb) | Transcription Factor Binding Sites |
Gene Targets |
---|---|---|---|---|---|---|---|---|---|---|
GH03J169762 | Promoter/Enhancer | 2.1 | EPDnew Ensembl ENCODE CraniofacialAtlas | 600.7 | +0.6 | 578 | 2.9 | BRCA1 ARHGAP35 CREB1 GATAD2A CTCF HNRNPL PRDM10 ZNF629 REST RFX1 | AF047386 ENSG00000277925 TERC MYNN SEC62-AS1 PHC3 RPL22P1 PRKCI LRRC34 ACTRT3 | |
GH03J169141 | Promoter/Enhancer | 2.2 | EPDnew Ensembl ENCODE CraniofacialAtlas | 4.1 | +618.1 | 618108 | 11.3 | CREB1 CTCF ATF7 PRDM10 ZNF629 REST RFX1 LEF1 IKZF1 KDM1A | MECOM TERC lnc-ACTRT3-6 HSALNG0030569 | |
GH03J169103 | Enhancer | 0.8 | Ensembl ENCODE | 5.5 | +660.3 | 660259 | 2.4 | POLR2A GTF2F1 TOE1 HMBOX1 RAD51 ZNF316 MYNN ATF2 GATA3 MAFK | TERC lnc-ACTRT3-7 LOC107986051 MECOM | |
GH03J169115 | Enhancer | 0.7 | VISTA Ensembl ENCODE | 5.8 | +648.0 | 647958 | 3 | CTCF JUN POLR2A | TERC lnc-ACTRT3-7 LOC107986051 MECOM | |
GH03J169090 | Enhancer | 0.2 | Ensembl | 5.8 | +674.7 | 674659 | 0.8 | TERC LOC107986051 lnc-ACTRT3-7 MECOM GOLIM4 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000332 | template for synthesis of G-rich strand of telomere DNA activity | IDA | 9398860 |
GO:0003720 | contributes_to telomerase activity | IDA, TAS | 23474713 |
GO:0003721 | contributes_to telomerase RNA reverse transcriptase activity | IDA, IMP | 11313459 |
GO:0003964 | contributes_to RNA-directed DNA polymerase activity | IDA | 19701182 |
GO:0005515 | protein binding | IPI | 10757788 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000333 | telomerase catalytic core complex | IDA, IMP | 11313459 |
GO:0000781 | colocalizes_with chromosome, telomeric region | IMP | 26950371 |
GO:0005697 | telomerase holoenzyme complex | IPI, IC | 19701182 |
GO:0005737 | cytoplasm | IMP | 26950371 |
GO:0015030 | Cajal body | IDA, IMP | 25467444 |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Gastric cancer |
.62
|
|
2 | Pathways in cancer |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0007004 | telomere maintenance via telomerase | IDA | 9443919 |
GO:0071456 | cellular response to hypoxia | IMP | 11313459 |
GO:0071897 | DNA biosynthetic process | IDA | 19701182 |
GO:2000773 | negative regulation of cellular senescence | IMP | 11313459 |
Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
---|---|---|---|---|---|---|
BIBR 1532 | Pharma | Telomerase inhibitor,novel and selective, Selective telomerase inhibitor | 0 |
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs |
---|
Compound | Action | Cas Number |
---|---|---|
BIBR 1532 | Telomerase inhibitor,novel and selective | 321674-73-1 |
RNAcentral Transcript ID | Subcategory | Length (nts) | # of Sources | Source Identifiers and Annotations |
---|---|---|---|---|
URS00004A7003_9606 | telomerase_RNA | 451 | 4 |
HGNC: 11727, RefSeq: NR_001566, snoDB: SNODB186, |
URS00004416C5_9606 | lncRNA | 541 | 3 |
Ensembl: ENST00000602385 (view in UCSC) , LNCipedia: lnc-ACTRT3-2:2, snoDB: SNODB171, |
URS0000593928_9606 | lncRNA | 598 | 3 |
LNCipedia: lnc-ACTRT3-2:1, NONCODE: NONHSAT093153.2, ENA: U85256.1:1..598:misc_RNA, |
URS0000D5DD7A_9606 | lncRNA | 540 | 1 |
LNCipedia: lnc-ACTRT3-2:3, |
URS0000D5A4C0_9606 | lncRNA | 433 | 1 |
LNCipedia: lnc-ACTRT3-2:5, |
This gene was present in the common ancestor of chordates.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | Telomerase-vert 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | Telomerase-vert 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | Telomerase-vert 31 31 |
|
OneToMany | |
Mouse (Mus musculus) |
Mammalia | Terc 31 |
|
OneToMany | |
Gm24413 31 |
|
OneToMany | |||
Oppossum (Monodelphis domestica) |
Mammalia | Telomerase-vert 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | Telomerase-vert 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | Telomerase-vert 31 |
|
OneToOne | |
Zebrafish (Danio rerio) |
Actinopterygii | Telomerase-vert 31 |
|
OneToOne |
SNP ID | Clinical significance and condition | Chr 03 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
40977 | Pathogenic: Dyskeratosis congenita, autosomal dominant 1 | 169,764,740(-) | GGCTGACAGAGCCCAA | ||
636628 | Uncertain Significance: Dyskeratosis congenita, autosomal dominant 1; not provided | 169,765,043(-) | G/A | ||
639725 | Uncertain Significance: Dyskeratosis congenita, autosomal dominant 1 | 169,764,698(-) | C/G | ||
639928 | Uncertain Significance: Dyskeratosis congenita, autosomal dominant 1 | 169,764,712(-) | A/ACCTCGC | NON_CODING_TRANSCRIPT_VARIANT | |
643046 | Uncertain Significance: Dyskeratosis congenita, autosomal dominant 1 | 169,764,828(-) | C/T |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
esv2422204 | CNV | deletion | 17116639 |
nsv7356 | OTHER | inversion | 18451855 |
Disorder | Aliases | PubMed IDs |
---|---|---|
pulmonary fibrosis and/or bone marrow failure, telomere-related, 2 |
|
|
dyskeratosis congenita, autosomal dominant 1 |
|
|
pulmonary fibrosis, idiopathic |
|
|
dyskeratosis congenita |
|
|
aplastic anemia |
|