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Q99973 (TEP1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 128. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Telomerase protein component 1
Alternative name(s):
Telomerase-associated protein 1
Short name=Telomerase protein 1
p240
p80 telomerase homolog
Gene names
Name:TEP1
Synonyms:TLP1, TP1
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length2627 AA.
Sequence statusComplete.
Protein existenceEvidence 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. Chromosometelomere.

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.

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 keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 26272627Telomerase protein component 1
PRO_0000050982

Regions

Repeat1 – 3030TEP1 N-terminal 1
Repeat31 – 6030TEP1 N-terminal 2
Repeat61 – 9030TEP1 N-terminal 3
Repeat91 – 12030TEP1 N-terminal 4
Domain223 – 676454TROVE
Domain1162 – 1490329NACHT
Repeat1411 – 144838WD 1
Repeat1674 – 171340WD 2
Repeat1716 – 175439WD 3
Repeat1757 – 179640WD 4
Repeat1798 – 183740WD 5
Repeat1840 – 187940WD 6
Repeat1882 – 192140WD 7
Repeat1925 – 196440WD 8
Repeat1967 – 200539WD 9
Repeat2008 – 204740WD 10
Repeat2059 – 209840WD 11
Repeat2105 – 214339WD 12
Repeat2146 – 218338WD 13
Repeat2185 – 223349WD 14
Repeat2236 – 227540WD 15
Repeat2278 – 231740WD 16
Repeat2319 – 235537WD 17
Repeat2368 – 241750WD 18
Repeat2459 – 250042WD 19
Repeat2553 – 259038WD 20
Repeat2592 – 262635WD 21
Nucleotide binding1168 – 11758ATP Potential

Natural variations

Alternative sequence2475 – 250632ESSFL…GNMWQ → ALMGSYGTWPNAAQKENGPQ VTCGR in isoform 2.
VSP_010359
Natural variant1161S → P. Ref.1
Corresponds to variant rs1760897 [ dbSNP | Ensembl ].
VAR_018490
Natural variant1371T → M.
Corresponds to variant rs10083536 [ dbSNP | Ensembl ].
VAR_047631
Natural variant3071N → K.
Corresponds to variant rs1760898 [ dbSNP | Ensembl ].
VAR_018491
Natural variant3681K → R.
Corresponds to variant rs2228035 [ dbSNP | Ensembl ].
VAR_047632
Natural variant4341K → N.
Corresponds to variant rs17111188 [ dbSNP | Ensembl ].
VAR_047633
Natural variant5101S → L.
Corresponds to variant rs4982051 [ dbSNP | Ensembl ].
VAR_047634
Natural variant5531A → G. Ref.1
Corresponds to variant rs2228040 [ dbSNP | Ensembl ].
VAR_047635
Natural variant9331R → H.
Corresponds to variant rs34179031 [ dbSNP | Ensembl ].
VAR_047636
Natural variant10551R → C. Ref.1
Corresponds to variant rs1760903 [ dbSNP | Ensembl ].
VAR_018492
Natural variant11551R → Q. Ref.1
Corresponds to variant rs2228041 [ dbSNP | Ensembl ].
VAR_047637
Natural variant11951S → P. Ref.1
Corresponds to variant rs1760904 [ dbSNP | Ensembl ].
VAR_018493
Natural variant13511R → Q.
Corresponds to variant rs12886088 [ dbSNP | Ensembl ].
VAR_047638
Natural variant14081G → R.
Corresponds to variant rs2229100 [ dbSNP | Ensembl ].
VAR_047639
Natural variant14471S → T.
Corresponds to variant rs1713457 [ dbSNP | Ensembl ].
VAR_018494
Natural variant14681C → Y.
Corresponds to variant rs1713456 [ dbSNP | Ensembl ].
VAR_018495
Natural variant16611R → Q.
Corresponds to variant rs34401320 [ dbSNP | Ensembl ].
VAR_047640
Natural variant17721R → Q.
Corresponds to variant rs8022805 [ dbSNP | Ensembl ].
VAR_047641
Natural variant22141V → I.
Corresponds to variant rs1713449 [ dbSNP | Ensembl ].
VAR_018496
Natural variant23101A → S.
Corresponds to variant rs35929175 [ dbSNP | Ensembl ].
VAR_047642
Natural variant24861I → M.
Corresponds to variant rs938886 [ dbSNP | Ensembl ].
VAR_018497
Natural variant25621H → R.
Corresponds to variant rs2104978 [ dbSNP | Ensembl ].
VAR_018498

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified November 25, 2008. Version 2.
Checksum: 32628238704A8860

FASTA2,627290,490
        10         20         30         40         50         60 
MEKLHGHVSA HPDILSLENR CLAMLPDLQP LEKLHQHVST HSDILSLKNQ CLATLPDLKT 

        70         80         90        100        110        120 
MEKPHGYVSA HPDILSLENQ CLATLSDLKT MEKPHGHVSA HPDILSLENR CLATLSSLKS 

       130        140        150        160        170        180 
TVSASPLFQS LQISHMTQAD LYRVNNSNCL LSEPPSWRAQ HFSKGLDLST CPIALKSISA 

       190        200        210        220        230        240 
TETAQEATLG RWFDSEEKKG AETQMPSYSL SLGEEEEVED LAVKLTSGDS ESHPEPTDHV 

       250        260        270        280        290        300 
LQEKKMALLS LLCSTLVSEV NMNNTSDPTL AAIFEICREL ALLEPEFILK ASLYARQQLN 

       310        320        330        340        350        360 
VRNVANNILA IAAFLPACRP HLRRYFCAIV QLPSDWIQVA ELYQSLAEGD KNKLVPLPAC 

       370        380        390        400        410        420 
LRTAMTDKFA QFDEYQLAKY NPRKHRAKRH PRRPPRSPGM EPPFSHRCFP RYIGFLREEQ 

       430        440        450        460        470        480 
RKFEKAGDTV SEKKNPPRFT LKKLVQRLHI HKPAQHVQAL LGYRYPSNLQ LFSRSRLPGP 

       490        500        510        520        530        540 
WDSSRAGKRM KLSRPETWER ELSLRGNKAS VWEELIENGK LPFMAMLRNL CNLLRVGISS 

       550        560        570        580        590        600 
RHHELILQRL QHAKSVIHSR QFPFRFLNAH DAIDALEAQL RNQALPFPSN ITLMRRILTR 

       610        620        630        640        650        660 
NEKNRPRRRF LCHLSRQQLR MAMRIPVLYE QLKREKLRVH KARQWKYDGE MLNRYRQALE 

       670        680        690        700        710        720 
TAVNLSVKHS LPLLPGRTVL VYLTDANADR LCPKSNPQGP PLNYALLLIG MMITRAEQVD 

       730        740        750        760        770        780 
VVLCGGDTLK TAVLKAEEGI LKTAIKLQAQ VQEFDENDGW SLNTFGKYLL SLAGQRVPVD 

       790        800        810        820        830        840 
RVILLGQSMD DGMINVAKQL YWQRVNSKCL FVGILLRRVQ YLSTDLNPND VTLSGCTDAI 

       850        860        870        880        890        900 
LKFIAEHGAS HLLEHVGQMD KIFKIPPPPG KTGVQSLRPL EEDTPSPLAP VSQQGWRSIR 

       910        920        930        940        950        960 
LFISSTFRDM HGERDLLLRS VLPALQARAA PHRISLHGID LRWGVTEEET RRNRQLEVCL 

       970        980        990       1000       1010       1020 
GEVENAQLFV GILGSRYGYI PPSYNLPDHP HFHWAQQYPS GRSVTEMEVM QFLNRNQRLQ 

      1030       1040       1050       1060       1070       1080 
PSAQALIYFR DSSFLSSVPD AWKSDFVSES EEAARRISEL KSYLSRQKGI TCRRYPCEWG 

      1090       1100       1110       1120       1130       1140 
GVAAGRPYVG GLEEFGQLVL QDVWNMIQKL YLQPGALLEQ PVSIPDDDLV QATFQQLQKP 

      1150       1160       1170       1180       1190       1200 
PSPARPRLLQ DTVQRLMLPH GRLSLVTGQS GQGKTAFLAS LVSALQAPDG AKVASLVFFH 

      1210       1220       1230       1240       1250       1260 
FSGARPDQGL ALTLLRRLCT YLRGQLKEPG ALPSTYRSLV WELQQRLLPK SAESLHPGQT 

      1270       1280       1290       1300       1310       1320 
QVLIIDGADR LVDQNGQLIS DWIPKKLPRC VHLVLSVSSD AGLGETLEQS QGAHVLALGP 

      1330       1340       1350       1360       1370       1380 
LEASARARLV REELALYGKR LEESPFNNQM RLLLVKRESG RPLYLRLVTD HLRLFTLYEQ 

      1390       1400       1410       1420       1430       1440 
VSERLRTLPA TVPLLLQHIL STLEKEHGPD VLPQALTALE VTRSGLTVDQ LHGVLSVWRT 

      1450       1460       1470       1480       1490       1500 
LPKGTKSWEE AVAAGNSGDP YPMGPFACLV QSLRSLLGEG PLERPGARLC LPDGPLRTAA 

      1510       1520       1530       1540       1550       1560 
KRCYGKRPGL EDTAHILIAA QLWKTCDADA SGTFRSCPPE ALGDLPYHLL QSGNRGLLSK 

      1570       1580       1590       1600       1610       1620 
FLTNLHVVAA HLELGLVSRL LEAHALYASS VPKEEQKLPE ADVAVFRTFL RQQASILSQY 

      1630       1640       1650       1660       1670       1680 
PRLLPQQAAN QPLDSPLCHQ ASLLSRRWHL QHTLRWLNKP RTMKNQQSSS LSLAVSSSPT 

      1690       1700       1710       1720       1730       1740 
AVAFSTNGQR AAVGTANGTV YLLDLRTWQE EKSVVSGCDG ISACLFLSDD TLFLTAFDGL 

      1750       1760       1770       1780       1790       1800 
LELWDLQHGC RVLQTKAHQY QITGCCLSPD CRLLATVCLG GCLKLWDTVR GQLAFQHTYP 

      1810       1820       1830       1840       1850       1860 
KSLNCVAFHP EGQVIATGSW AGSISFFQVD GLKVTKDLGA PGASIRTLAF NVPGGVVAVG 

      1870       1880       1890       1900       1910       1920 
RLDSMVELWA WREGARLAAF PAHHGFVAAA LFLHAGCQLL TAGEDGKVQV WSGSLGRPRG 

      1930       1940       1950       1960       1970       1980 
HLGSLSLSPA LSVALSPDGD RVAVGYRADG IRIYKISSGS QGAQGQALDV AVSALAWLSP 

      1990       2000       2010       2020       2030       2040 
KVLVSGAEDG SLQGWALKEC SLQSLWLLSR FQKPVLGLAT SQELLASASE DFTVQLWPRQ 

      2050       2060       2070       2080       2090       2100 
LLTRPHKAED FPCGTELRGH EGPVSCCSFS TDGGSLATGG RDRSLLCWDV RTPKTPVLIH 

      2110       2120       2130       2140       2150       2160 
SFPACHRDWV TGCAWTKDNL LISCSSDGSV GLWDPESGQR LGQFLGHQSA VSAVAAVEEH 

      2170       2180       2190       2200       2210       2220 
VVSVSRDGTL KVWDHQGVEL TSIPAHSGPI SHCAAAMEPR AAGQPGSELL VVTVGLDGAT 

      2230       2240       2250       2260       2270       2280 
RLWHPLLVCQ THTLLGHSGP VRAAAVSETS GLMLTASEDG SVRLWQVPKE ADDTCIPRSS 

      2290       2300       2310       2320       2330       2340 
AAVTAVAWAP DGSMAVSGNQ AGELILWQEA KAVATAQAPG HIGALIWSSA HTFFVLSADE 

      2350       2360       2370       2380       2390       2400 
KISEWQVKLR KGSAPGNLSL HLNRILQEDL GVLTSLDWAP DGHFLILAKA DLKLLCMKPG 

      2410       2420       2430       2440       2450       2460 
DAPSEIWSSY TENPMILSTH KEYGIFVLQP KDPGVLSFLR QKESGEFEER LNFDINLENP 

      2470       2480       2490       2500       2510       2520 
SRTLISITQA KPESESSFLC ASSDGILWNL AKCSPEGEWT TGNMWQKKAN TPETQTPGTD 

      2530       2540       2550       2560       2570       2580 
PSTCRESDAS MDSDASMDSE PTPHLKTRQR RKIHSGSVTA LHVLPELLVT ASKDRDVKLW 

      2590       2600       2610       2620 
ERPSMQLLGL FRCEGSVSCL EPWLGANSTL QLAVGDVQGN VYFLNWE 

« Hide

Isoform 2 [UniParc].

Checksum: D512FB76402A71C4
Show »

FASTA2,620289,578

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.
CCDSCCDS9548.1. [Q99973-1]
RefSeqNP_009041.2. NM_007110.4. [Q99973-1]
XP_005268084.1. XM_005268027.2. [Q99973-1]
UniGeneHs.508835.

3D structure databases

ProteinModelPortalQ99973.
SMRQ99973. Positions 1664-2391.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid112870. 12 interactions.
IntActQ99973. 1 interaction.
MINTMINT-112815.
STRING9606.ENSP00000262715.

PTM databases

PhosphoSiteQ99973.

Polymorphism databases

DMDM215273899.

Proteomic databases

MaxQBQ99973.
PaxDbQ99973.
PRIDEQ99973.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000262715; ENSP00000262715; ENSG00000129566. [Q99973-1]
GeneID7011.
KEGGhsa:7011.
UCSCuc001vxe.3. human. [Q99973-1]

Organism-specific databases

CTD7011.
GeneCardsGC14M020833.
H-InvDBHIX0026646.
HGNCHGNC:11726. TEP1.
HPAHPA029206.
MIM601686. gene.
neXtProtNX_Q99973.
PharmGKBPA36443.
GenAtlasSearch...

Phylogenomic databases

eggNOGCOG2319.
HOGENOMHOG000154545.
HOVERGENHBG059633.
InParanoidQ99973.
KOK11127.
OMALWHPLLV.
OrthoDBEOG7W6WJT.
PhylomeDBQ99973.
TreeFamTF328424.

Enzyme and pathway databases

SignaLinkQ99973.

Gene expression databases

ArrayExpressQ99973.
BgeeQ99973.
CleanExHS_TEP1.
GenevestigatorQ99973.

Family and domain databases

Gene3D2.130.10.10. 7 hits.
InterProIPR025139. DUF4062.
IPR007111. NACHT_NTPase.
IPR027417. P-loop_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]
PfamPF13271. DUF4062. 1 hit.
PF05386. TEP1_N. 4 hits.
PF05731. TROVE. 1 hit.
PF00400. WD40. 8 hits.
[Graphical view]
SMARTSM00320. WD40. 18 hits.
[Graphical view]
SUPFAMSSF50978. SSF50978. 5 hits.
SSF52540. SSF52540. 1 hit.
PROSITEPS50837. 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]
ProtoNetSearch...

Other

ChiTaRSTEP1. human.
GeneWikiTEP1.
GenomeRNAi7011.
NextBio27388.
PROQ99973.
SOURCESearch...

Entry information

Entry nameTEP1_HUMAN
AccessionPrimary (citable) accession number: Q99973
Secondary accession number(s): A0AUV9
Entry history
Integrated into UniProtKB/Swiss-Prot: May 24, 2004
Last sequence update: November 25, 2008
Last modified: July 9, 2014
This is version 128 of the entry and version 2 of the sequence. [Complete history]
Entry statusReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny 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

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 14

Human chromosome 14: entries, gene names and cross-references to MIM