Q99973 (TEP1_HUMAN) Reviewed, UniProtKB/Swiss-Prot
Last modified
May 1, 2013.
Version 117.
History...
Names·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order
Names·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize orderNames and origin
| Protein names | Recommended name: Telomerase protein component 1 Alternative name(s): Telomerase-associated protein 1 Short name=Telomerase protein 1 p240 p80 telomerase homolog | ||||
| Gene names |
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| Organism | Homo sapiens (Human) [Reference proteome] | ||||
| Taxonomic identifier | 9606 [NCBI] | ||||
| Taxonomic lineage | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo![]() |
Protein attributes
| Sequence length | 2627 AA. |
| Sequence status | Complete. |
| Protein existence | Evidence at protein level |
General annotation (Comments)
| Function | Component of the telomerase ribonucleoprotein complex that is essential for the replication of chromosome termini. Also component of the ribonucleoprotein vaults particle, a multi-subunit structure involved in nucleo-cytoplasmic transport. Responsible for the localizing and stabilizing vault RNA (vRNA) association in the vault ribonucleoprotein particle. Binds to TERC By similarity. |
| Subunit structure | Component of the telomerase holoenzyme complex at least composed of TERT, DKC1, WRAP53/TCAB1, NOP10, NHP2, GAR1, TEP1, EST1A, POT1 and a telomerase RNA template component (TERC). Component of the vault ribonucleoprotein particle, at least composed of MVP, PARP4 and one or more vault RNAs (vRNAs). Binds to VAULTRC1, VAULTRC2 and VAULTRC4/hvg4 vRNAs By similarity. Ref.4 Ref.5 Ref.6 Ref.7 |
| Subcellular location | Nucleus Probable. Chromosome › telomere. |
| Tissue specificity | Ubiquitous. Ref.1 |
| Sequence similarities | Contains 1 NACHT domain. Contains 4 TEP1 N-terminal repeats. Contains 1 TROVE domain. Contains 21 WD repeats. |
Ontologies
| Keywords | |
|---|---|
| Cellular component | Chromosome Nucleus Telomere |
| Coding sequence diversity | Alternative splicing Polymorphism |
| Domain | Repeat WD repeat |
| Ligand | ATP-binding Nucleotide-binding RNA-binding |
| Molecular function | Ribonucleoprotein |
| Technical term | Complete proteome Reference proteome |
| Gene Ontology (GO) | |
| Biological_process | telomere maintenance via recombination Inferred from direct assay PubMed 10810353. Source: UniProtKB |
| Cellular_component | chromosome, telomeric region Inferred from electronic annotation. Source: UniProtKB-SubCell cytoplasmInferred from direct assay PubMed 7876352. Source: MGI nuclear matrixInferred from direct assay PubMed 7876352. Source: MGI telomerase holoenzyme complexInferred from direct assay PubMed 12135483. Source: UniProtKB |
| Molecular_function | ATP binding Inferred from electronic annotation. Source: UniProtKB-KW RNA bindingInferred from sequence or structural similarity. Source: UniProtKB |
| Complete GO annotation... | |
Alternative products
| This entry describes 2 isoforms produced by alternative splicing. [Align] [Select] | ||||||
| Isoform 1 (identifier: Q99973-1) This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. | ||||||
| Isoform 2 (identifier: Q99973-2) The sequence of this isoform differs from the canonical sequence as follows: 2475-2506: ESSFLCASSDGILWNLAKCSPEGEWTTGNMWQ → ALMGSYGTWPNAAQKENGPQVTCGR | ||||||
| Note: May be due to an exon inclusion. |
Sequence annotation (Features)
| Feature key | Position(s) | Length | Description | Graphical view | Feature identifier | ||||
Molecule processing | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Chain | 1 – 2627 | 2627 | Telomerase protein component 1 | PRO_0000050982 | |||||
Regions | |||||||||
| Repeat | 1 – 30 | 30 | TEP1 N-terminal 1 | ||||||
| Repeat | 31 – 60 | 30 | TEP1 N-terminal 2 | ||||||
| Repeat | 61 – 90 | 30 | TEP1 N-terminal 3 | ||||||
| Repeat | 91 – 120 | 30 | TEP1 N-terminal 4 | ||||||
| Domain | 223 – 676 | 454 | TROVE | ||||||
| Domain | 1162 – 1490 | 329 | NACHT | ||||||
| Repeat | 1411 – 1448 | 38 | WD 1 | ||||||
| Repeat | 1674 – 1713 | 40 | WD 2 | ||||||
| Repeat | 1716 – 1754 | 39 | WD 3 | ||||||
| Repeat | 1757 – 1796 | 40 | WD 4 | ||||||
| Repeat | 1798 – 1837 | 40 | WD 5 | ||||||
| Repeat | 1840 – 1879 | 40 | WD 6 | ||||||
| Repeat | 1882 – 1921 | 40 | WD 7 | ||||||
| Repeat | 1925 – 1964 | 40 | WD 8 | ||||||
| Repeat | 1967 – 2005 | 39 | WD 9 | ||||||
| Repeat | 2008 – 2047 | 40 | WD 10 | ||||||
| Repeat | 2059 – 2098 | 40 | WD 11 | ||||||
| Repeat | 2105 – 2143 | 39 | WD 12 | ||||||
| Repeat | 2146 – 2183 | 38 | WD 13 | ||||||
| Repeat | 2185 – 2233 | 49 | WD 14 | ||||||
| Repeat | 2236 – 2275 | 40 | WD 15 | ||||||
| Repeat | 2278 – 2317 | 40 | WD 16 | ||||||
| Repeat | 2319 – 2355 | 37 | WD 17 | ||||||
| Repeat | 2368 – 2417 | 50 | WD 18 | ||||||
| Repeat | 2459 – 2500 | 42 | WD 19 | ||||||
| Repeat | 2553 – 2590 | 38 | WD 20 | ||||||
| Repeat | 2592 – 2626 | 35 | WD 21 | ||||||
| Nucleotide binding | 1168 – 1175 | 8 | ATP Potential | ||||||
Natural variations | |||||||||
| Alternative sequence | 2475 – 2506 | 32 | ESSFL…GNMWQ → ALMGSYGTWPNAAQKENGPQ VTCGR in isoform 2. | VSP_010359 | |||||
| Natural variant | 116 | 1 | S → P. Ref.1 Corresponds to variant rs1760897 [ dbSNP | Ensembl ]. | VAR_018490 | |||||
| Natural variant | 137 | 1 | T → M. Corresponds to variant rs10083536 [ dbSNP | Ensembl ]. | VAR_047631 | |||||
| Natural variant | 307 | 1 | N → K. Corresponds to variant rs1760898 [ dbSNP | Ensembl ]. | VAR_018491 | |||||
| Natural variant | 368 | 1 | K → R. Corresponds to variant rs2228035 [ dbSNP | Ensembl ]. | VAR_047632 | |||||
| Natural variant | 434 | 1 | K → N. Corresponds to variant rs17111188 [ dbSNP | Ensembl ]. | VAR_047633 | |||||
| Natural variant | 510 | 1 | S → L. Corresponds to variant rs4982051 [ dbSNP | Ensembl ]. | VAR_047634 | |||||
| Natural variant | 553 | 1 | A → G. Ref.1 Corresponds to variant rs2228040 [ dbSNP | Ensembl ]. | VAR_047635 | |||||
| Natural variant | 933 | 1 | R → H. Corresponds to variant rs34179031 [ dbSNP | Ensembl ]. | VAR_047636 | |||||
| Natural variant | 1055 | 1 | R → C. Ref.1 Corresponds to variant rs1760903 [ dbSNP | Ensembl ]. | VAR_018492 | |||||
| Natural variant | 1155 | 1 | R → Q. Ref.1 Corresponds to variant rs2228041 [ dbSNP | Ensembl ]. | VAR_047637 | |||||
| Natural variant | 1195 | 1 | S → P. Ref.1 Corresponds to variant rs1760904 [ dbSNP | Ensembl ]. | VAR_018493 | |||||
| Natural variant | 1351 | 1 | R → Q. Corresponds to variant rs12886088 [ dbSNP | Ensembl ]. | VAR_047638 | |||||
| Natural variant | 1408 | 1 | G → R. Corresponds to variant rs2229100 [ dbSNP | Ensembl ]. | VAR_047639 | |||||
| Natural variant | 1447 | 1 | S → T. Corresponds to variant rs1713457 [ dbSNP | Ensembl ]. | VAR_018494 | |||||
| Natural variant | 1468 | 1 | C → Y. Corresponds to variant rs1713456 [ dbSNP | Ensembl ]. | VAR_018495 | |||||
| Natural variant | 1661 | 1 | R → Q. Corresponds to variant rs34401320 [ dbSNP | Ensembl ]. | VAR_047640 | |||||
| Natural variant | 1772 | 1 | R → Q. Corresponds to variant rs8022805 [ dbSNP | Ensembl ]. | VAR_047641 | |||||
| Natural variant | 2214 | 1 | V → I. Corresponds to variant rs1713449 [ dbSNP | Ensembl ]. | VAR_018496 | |||||
| Natural variant | 2310 | 1 | A → S. Corresponds to variant rs35929175 [ dbSNP | Ensembl ]. | VAR_047642 | |||||
| Natural variant | 2486 | 1 | I → M. Corresponds to variant rs938886 [ dbSNP | Ensembl ]. | VAR_018497 | |||||
| Natural variant | 2562 | 1 | H → R. Corresponds to variant rs2104978 [ dbSNP | Ensembl ]. | VAR_018498 | |||||
Sequences
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References
| « Hide 'large scale' references | |
| [1] | "A mammalian telomerase-associated protein." Harrington L., McPhail T., Mar V., Zhou W., Oulton R., Bass M.B., Arruda I., Robinson M.O. Science 275:973-977(1997) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), TISSUE SPECIFICITY, VARIANTS PRO-116; GLY-553; CYS-1055; GLN-1155 AND PRO-1195. |
| [2] | "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)." The MGC Project Team Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1). Tissue: Cerebellum. |
| [3] | "The full-ORF clone resource of the German cDNA consortium." Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U., Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H., Heubner D., Hoerlein A., Michel G., Wedler H., Koehrer K., Ottenwaelder B., Poustka A., Wiemann S., Schupp I. BMC Genomics 8:399-399(2007) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 2288-2627 (ISOFORM 2). Tissue: Salivary gland. |
| [4] | "Human telomerase contains evolutionarily conserved catalytic and structural subunits." Harrington L., Zhou W., McPhail T., Oulton R., Yeung D.S., Mar V., Bass M.B., Robinson M.O. Genes Dev. 11:3109-3115(1997) [PubMed] [Europe PMC] [Abstract] Cited for: IDENTIFICATION IN THE TELOMERASE RIBONUCLEOPROTEIN COMPLEX. |
| [5] | "Vaults and telomerase share a common subunit, TEP1." Kickhoefer V.A., Stephen A.G., Harrington L., Robinson M.O., Rome L.H. J. Biol. Chem. 274:32712-32717(1999) [PubMed] [Europe PMC] [Abstract] Cited for: IDENTIFICATION IN THE VAULTS RIBONUCLEOPROTEIN PARTICLE, RNA-BINDING. |
| [6] | "Polymerization defects within human telomerase are distinct from telomerase RNA and TEP1 binding." Beattie T.L., Zhou W., Robinson M.O., Harrington L. Mol. Biol. Cell 11:3329-3340(2000) [PubMed] [Europe PMC] [Abstract] Cited for: IDENTIFICATION IN THE TELOMERASE RIBONUCLEOPROTEIN COMPLEX. |
| [7] | "A human telomerase holoenzyme protein required for Cajal body localization and telomere synthesis." Venteicher A.S., Abreu E.B., Meng Z., McCann K.E., Terns R.M., Veenstra T.D., Terns M.P., Artandi S.E. Science 323:644-648(2009) [PubMed] [Europe PMC] [Abstract] Cited for: IDENTIFICATION IN THE TELOMERASE HOLOENZYME COMPLEX. |
| + | Additional computationally mapped references. |
Cross-references
Sequence databases | |
|---|---|
| EMBL GenBank DDBJ | U86136 mRNA. Translation: AAC51107.1. BC126107 mRNA. Translation: AAI26108.1. BX640983 mRNA. Translation: CAE45993.1. |
| IPI | IPI00294519. IPI00413874. |
| RefSeq | NP_009041.2. NM_007110.4. |
| UniGene | Hs.508835. |
3D structure databases | |
| ProteinModelPortal | Q99973. |
| ModBase | Search... |
Protein-protein interaction databases | |
| IntAct | Q99973. 1 interaction. |
| STRING | 9606.ENSP00000262715. |
PTM databases | |
| PhosphoSite | Q99973. |
Polymorphism databases | |
| DMDM | 215273899. |
Proteomic databases | |
| PaxDb | Q99973. |
| PRIDE | Q99973. |
Protocols and materials databases | |
| StructuralBiologyKnowledgebase | Search... |
Genome annotation databases | |
| Ensembl | ENST00000262715; ENSP00000262715; ENSG00000129566. |
| GeneID | 7011. |
| KEGG | hsa:7011. |
| UCSC | uc001vxe.3. human. |
Organism-specific databases | |
| CTD | 7011. |
| GeneCards | GC14M020833. |
| H-InvDB | HIX0026646. |
| HGNC | HGNC:11726. TEP1. |
| HPA | HPA029206. |
| MIM | 601686. gene. |
| neXtProt | NX_Q99973. |
| PharmGKB | PA36443. |
| GenAtlas | Search... |
Phylogenomic databases | |
| eggNOG | COG2319. |
| HOGENOM | HOG000154545. |
| HOVERGEN | HBG059633. |
| InParanoid | Q99973. |
| KO | K11127. |
| OMA | SVPDAWK. |
| OrthoDB | EOG4001HG. |
| PhylomeDB | Q99973. |
Gene expression databases | |
| ArrayExpress | Q99973. |
| Bgee | Q99973. |
| CleanEx | HS_TEP1. |
| Genevestigator | Q99973. |
| GermOnline | ENSG00000129566. Homo sapiens. |
Family and domain databases | |
| Gene3D | 2.130.10.10. 7 hits. |
| InterPro | IPR025139. DUF4062. IPR007111. NACHT_NTPase. IPR008850. TEP1_N. IPR008858. TROVE. IPR015943. WD40/YVTN_repeat-like_dom. IPR001680. WD40_repeat. IPR019775. WD40_repeat_CS. IPR017986. WD40_repeat_dom. [Graphical view] |
| Pfam | PF13271. DUF4062. 1 hit. PF05386. TEP1_N. 4 hits. PF05731. TROVE. 1 hit. PF00400. WD40. 8 hits. [Graphical view] |
| SMART | SM00320. WD40. 18 hits. [Graphical view] |
| SUPFAM | SSF50978. WD40_like. 3 hits. |
| PROSITE | PS50837. NACHT. 1 hit. PS51226. TEP1_N. 4 hits. PS50988. TROVE. 1 hit. PS00678. WD_REPEATS_1. 1 hit. PS50082. WD_REPEATS_2. 7 hits. PS50294. WD_REPEATS_REGION. 2 hits. [Graphical view] |
| ProtoNet | Search... |
Other | |
| ChiTaRS | TEP1. human. |
| GenomeRNAi | 7011. |
| NextBio | 27388. |
| SOURCE | Search... |
Entry information
| Entry name | TEP1_HUMAN | ||||||||
| Accession | Primary (citable) accession number: Q99973 Secondary accession number(s): A0AUV9 | ||||||||
| Entry history |
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| Entry status | Reviewed (UniProtKB/Swiss-Prot) | ||||||||
| Annotation program | Chordata Protein Annotation Program | ||||||||
| Disclaimer | Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. | ||||||||
Relevant documents
| Human chromosome 14 Human chromosome 14: entries, gene names and cross-references to MIM |
| Human entries with polymorphisms or disease mutations List of human entries with polymorphisms or disease mutations |
| Human polymorphisms and disease mutations Index of human polymorphisms and disease mutations |
| MIM cross-references Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot |
| SIMILARITY comments Index of protein domains and families |

Clusters with
