TEP1

TEP1
Identifiers
Aliases	TEP1 , TLP1, TP1, TROVE1, VAULT2, p240, telomerase associated protein 1
External IDs	OMIM: 601686 MGI: 109573 HomoloGene: 5157 GeneCards: TEP1
Gene location (Human)
Chr.	Chromosome 14 (human)
End	20,413,501 bp
Gene location (Mouse)
Chr.	Chromosome 14 (mouse)
End	51,108,017 bp
RNA expression pattern
	Top expressed in
	monocyte; ; jejunal mucosa; ; rectum; ; duodenum; ; spleen; ; lymph node; ; thymus; ; ascending aorta; ; left coronary artery; ; pylorus;
	Top expressed in
	duodenum; ; intestinal villus; ; jejunum; ; large intestine; ; colon; ; crypt of lieberkuhn of small intestine; ; Paneth cell; ; left colon; ; subcutaneous adipose tissue; ; femur;
	More reference expression data
	More reference expression data
Gene ontology
Molecular function	ATP binding ; p53 binding ; nucleotide binding ; enzyme binding ; telomerase RNA binding ; telomerase activity ; RNA binding ;
Cellular component	telomere ; telomerase holoenzyme complex ; nucleus ; cytoplasm ; nuclear matrix ; chromosome ; U5 snRNP ; precatalytic spliceosome ; catalytic step 2 spliceosome ; ribonucleoprotein complex ;
Biological process	telomere maintenance via recombination ; RNA-dependent DNA biosynthetic process ; RNA splicing ;
	Sources:Amigo / QuickGO
Orthologs
	7011
	21745
	ENSG00000129566
	ENSMUSG00000006281
	Q99973
	P97499
	NM_007110 ; NM_001319035
	NM_009351
	NP_001305964 ; NP_009041
	NP_033377
	Wikidata
View/Edit Human	View/Edit Mouse

Last updated September 08, 2023

Telomerase protein component 1 is an enzyme that in humans is encoded by the TEP1 gene.^[5]^[6]

Function

This gene product is a component of the ribonucleoprotein complex responsible for telomerase activity which catalyzes the addition of new telomeres on the chromosome ends. The telomerase-associated proteins are conserved from ciliates to humans.^[6] It is also a minor vault protein.

Related Research Articles

Telomerase, also called terminal transferase, is a ribonucleoprotein that adds a species-dependent telomere repeat sequence to the 3' end of telomeres. A telomere is a region of repetitive sequences at each end of the chromosomes of most eukaryotes. Telomeres protect the end of the chromosome from DNA damage or from fusion with neighbouring chromosomes. The fruit fly Drosophila melanogaster lacks telomerase, but instead uses retrotransposons to maintain telomeres.

Dyskeratosis congenita (DKC), also known as Zinsser-Engman-Cole syndrome, is a rare progressive congenital disorder with a highly variable phenotype. The entity was classically defined by the triad of abnormal skin pigmentation, nail dystrophy, and leukoplakia of the oral mucosa, and MDS/AML, but these components do not always occur. DKC is characterized by short telomeres. Some of the manifestations resemble premature ageing and cognitive impairment can be a feature. The disease initially mainly affects the skin, but a major consequence is progressive bone marrow failure which occurs in over 80%, causing early mortality.

Telomerase reverse transcriptase is a catalytic subunit of the enzyme telomerase, which, together with the telomerase RNA component (TERC), comprises the most important unit of the telomerase complex.

Telomerase RNA component, also known as TR, TER or TERC, is an ncRNA found in eukaryotes that is a component of telomerase, the enzyme used to extend telomeres. TERC serves as a template for telomere replication by telomerase. Telomerase RNAs differ greatly in sequence and structure between vertebrates, ciliates and yeasts, but they share a 5' pseudoknot structure close to the template sequence. The vertebrate telomerase RNAs have a 3' H/ACA snoRNA-like domain.

Major vault protein is a protein that in humans is encoded by the MVP gene. 78 copies of the protein assemble into the large compartments called vaults.

Poly(A)-specific ribonuclease (PARN), also known as polyadenylate-specific ribonuclease or deadenylating nuclease (DAN), is an enzyme that in humans is encoded by the PARN gene.

Poly [ADP-ribose] polymerase 4 is an enzyme that in humans is encoded by the PARP4 gene.

N-myc-interactor also known as N-myc and STAT interactor is a protein that in humans is encoded by the NMI gene.

DNA polymerase delta subunit 2 is an enzyme that in humans is encoded by the POLD2 gene. It is a component of the DNA polymerase delta complex.

H/ACA ribonucleoprotein complex subunit 1 is a protein that in humans is encoded by the GAR1 gene.

DNA-directed RNA polymerases I and III subunit RPAC1 is a protein that in humans is encoded by the POLR1C gene.

Telomerase-binding protein EST1A is an enzyme that in humans is encoded by the SMG6 gene on chromosome 17. It is ubiquitously expressed in many tissues and cell types. The C-terminus of the EST1A protein contains a PilT N-terminus (PIN) domain. This structure for this domain has been determined by X-ray crystallography. SMG6 functions to bind single-stranded DNA in telomere maintenance and single-stranded RNA in nonsense-mediated mRNA decay (NMD). The SMG6 gene also contains one of 27 SNPs associated with increased risk of coronary artery disease.

Eukaryotic translation initiation factor 3 subunit L (eIF3l), less commonly known as EIF3EIP, is a protein that in humans is encoded by the EIF3L gene.

PIN2/TERF1-interacting telomerase inhibitor 1, also known as PINX1, is a human gene. PINX1 is also known as PIN2 interacting protein 1. PINX1 is a telomerase inhibitor and a possible tumor suppressor.

Splicing factor 3B, 14 kDa subunit, also known as SF3B14, is a human gene.

40S ribosomal protein S29 is a protein that in humans is encoded by the RPS29 gene.

<span class="mw-page-title-main">Vault (organelle)</span> Eukaryotic organelle

The vault or vault cytoplasmic ribonucleoprotein is a eukaryotic organelle whose function is not yet fully understood. Discovered and isolated by Nancy Kedersha and Leonard Rome in 1986, vaults are cytoplasmic organelles which, when negative-stained and viewed under an electron microscope, resemble the arches of a cathedral's vaulted ceiling, with 39-fold symmetry. They are present in many types of eukaryotic cells, and appear to be highly conserved among eukaryotes.

Transcription factor IIIB 50 kDa subunit (TFIIIB50) also known as b-related factor 2 (BRF-2) is a protein that in humans is encoded by the BRF2 gene.

60S ribosomal protein L26 is a protein that in humans is encoded by the RPL26 gene.

Shelterin is a protein complex known to protect telomeres in many eukaryotes from DNA repair mechanisms, as well as to regulate telomerase activity. In mammals and other vertebrates, telomeric DNA consists of repeating double-stranded 5'-TTAGGG-3' (G-strand) sequences along with the 3'-AATCCC-5' (C-strand) complement, ending with a 50-400 nucleotide 3' (G-strand) overhang. Much of the final double-stranded portion of the telomere forms a T-loop (Telomere-loop) that is invaded by the 3' (G-strand) overhang to form a small D-loop (Displacement-loop).

References

1 2 3 GRCh38: Ensembl release 89: ENSG00000129566 - Ensembl, May 2017
1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000006281 - Ensembl, May 2017
↑ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
↑ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
↑ Saito T, Matsuda Y, Suzuki T, Hayashi A, Yuan X, Saito M, Nakayama J, Hori T, Ishikawa F (November 1997). "Comparative gene mapping of the human and mouse TEP1 genes, which encode one protein component of telomerases". Genomics. 46 (1): 46–50. doi:10.1006/geno.1997.5005. PMID 9403057.
1 2 "Entrez Gene: TEP1 telomerase-associated protein 1".

Joly EC, Tremblay E, Tanguay RM, Wu Y, Bibor-Hardy V (October 1994). "TRiC-P5, a novel TCP1-related protein, is localized in the cytoplasm and in the nuclear matrix". Journal of Cell Science. 107 ( Pt 10) (10): 2851–9. doi:10.1242/jcs.107.10.2851. PMID 7876352.
Harrington L, McPhail T, Mar V, Zhou W, Oulton R, Bass MB, Arruda I, Robinson MO (February 1997). "A mammalian telomerase-associated protein". Science. 275 (5302): 973–7. doi:10.1126/science.275.5302.973. PMID 9020079. S2CID 21631570.
Harrington L, Zhou W, McPhail T, Oulton R, Yeung DS, Mar V, Bass MB, Robinson MO (December 1997). "Human telomerase contains evolutionarily conserved catalytic and structural subunits". Genes & Development. 11 (23): 3109–15. doi:10.1101/gad.11.23.3109. PMC 316744 . PMID 9389643.
Li H, Zhao L, Yang Z, Funder JW, Liu JP (December 1998). "Telomerase is controlled by protein kinase Calpha in human breast cancer cells". The Journal of Biological Chemistry. 273 (50): 33436–42. doi: 10.1074/jbc.273.50.33436 . PMID 9837921.
Kickhoefer VA, Stephen AG, Harrington L, Robinson MO, Rome LH (November 1999). "Vaults and telomerase share a common subunit, TEP1". The Journal of Biological Chemistry. 274 (46): 32712–7. doi: 10.1074/jbc.274.46.32712 . PMID 10551828.
Li H, Cao Y, Berndt MC, Funder JW, Liu JP (November 1999). "Molecular interactions between telomerase and the tumor suppressor protein p53 in vitro". Oncogene. 18 (48): 6785–94. doi: 10.1038/sj.onc.1203061 . PMID 10597287.
Koyanagi Y, Kobayashi D, Yajima T, Asanuma K, Kimura T, Sato T, Kida T, Yagihashi A, Kameshima H, Watanabe N (2000). "Telomerase activity is down regulated via decreases in hTERT mRNA but not TEP1 mRNA or hTERC during the differentiation of leukemic cells". Anticancer Research. 20 (2A): 773–8. PMID 10810353.
Beattie TL, Zhou W, Robinson MO, Harrington L (October 2000). "Polymerization defects within human telomerase are distinct from telomerase RNA and TEP1 binding". Molecular Biology of the Cell. 11 (10): 3329–40. doi:10.1091/mbc.11.10.3329. PMC 14995 . PMID 11029039.
Zhang RG, Zhang RP, Wang XW, Xie H (March 2002). "Effects of cisplatin on telomerase activity and telomere length in BEL-7404 human hepatoma cells". Cell Research. 12 (1): 55–62. doi: 10.1038/sj.cr.7290110 . PMID 11942411.
Chang JT, Chen YL, Yang HT, Chen CY, Cheng AJ (July 2002). "Differential regulation of telomerase activity by six telomerase subunits". European Journal of Biochemistry. 269 (14): 3442–50. doi: 10.1046/j.1432-1033.2002.03025.x . PMID 12135483.
Zhou JH, Zhang HM, Chen Q, Han DD, Pei F, Zhang LS, Yang DT (August 2003). "Relationship between telomerase activity and its subunit expression and inhibitory effect of antisense hTR on pancreatic carcinoma". World Journal of Gastroenterology. 9 (8): 1808–14. doi: 10.3748/wjg.v9.i8.1808 . PMC 4611549 . PMID 12918126.
Li C, Wu MY, Liang YR, Wu XY (November 2003). "Correlation between expression of human telomerase subunits and telomerase activity in esophageal squamous cell carcinoma". World Journal of Gastroenterology. 9 (11): 2395–9. doi: 10.3748/wjg.v9.i11.2395 . PMC 4656508 . PMID 14606063.
Lim J, Hao T, Shaw C, Patel AJ, Szabó G, Rual JF, Fisk CJ, Li N, Smolyar A, Hill DE, Barabási AL, Vidal M, Zoghbi HY (May 2006). "A protein-protein interaction network for human inherited ataxias and disorders of Purkinje cell degeneration". Cell. 125 (4): 801–14. doi: 10.1016/j.cell.2006.03.032 . PMID 16713569.

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[refGRCh38Ensembl-1] 1 2 3 GRCh38: Ensembl release 89: ENSG00000129566 - Ensembl, May 2017

[refGRCm38Ensembl-2] 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000006281 - Ensembl, May 2017

[3] "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[4] "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[pmid9403057-5] Saito T, Matsuda Y, Suzuki T, Hayashi A, Yuan X, Saito M, Nakayama J, Hori T, Ishikawa F (November 1997). "Comparative gene mapping of the human and mouse TEP1 genes, which encode one protein component of telomerases". Genomics. 46 (1): 46–50. doi:10.1006/geno.1997.5005. PMID 9403057.

[entrez-6] 1 2 "Entrez Gene: TEP1 telomerase-associated protein 1".

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TEP1

Contents

Function

Related Research Articles

References

Further reading