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Q86US8

- EST1A_HUMAN

UniProt

Q86US8 - EST1A_HUMAN

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Protein

Telomerase-binding protein EST1A

Gene

SMG6

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli

Functioni

Component of the telomerase ribonucleoprotein (RNP) complex that is essential for the replication of chromosome termini. May have a general role in telomere regulation. Promotes in vitro the ability of TERT to elongate telomeres. Overexpression induces telomere uncapping, chromosomal end-to-end fusions (telomeric DNA persists at the fusion points) and did not perturb TRF2 telomeric localization. Binds to the single-stranded 5'-(GTGTGG)4GTGT-3' telomeric DNA, but not to a telomerase RNA template component (TER).
Plays a role in nonsense-mediated mRNA decay. Is thought to provide a link to the mRNA degradation machinery as it has endonuclease activity required to initiate NMD, and to serve as an adapter for UPF1 to protein phosphatase 2A (PP2A), thereby triggering UPF1 dephosphorylation. Degrades single-stranded RNA (ssRNA), but not ssDNA or dsRNA.

Cofactori

Manganese.1 Publication

Sites

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Metal bindingi1251 – 12511Manganese; catalyticCurated
Metal bindingi1353 – 13531Manganese; catalyticCurated
Metal bindingi1392 – 13921Manganese; catalyticCurated

GO - Molecular functioni

  1. endoribonuclease activity Source: UniProtKB
  2. metal ion binding Source: UniProtKB-KW
  3. telomeric DNA binding Source: HGNC

GO - Biological processi

  1. gene expression Source: Reactome
  2. mRNA export from nucleus Source: HGNC
  3. mRNA metabolic process Source: Reactome
  4. nuclear-transcribed mRNA catabolic process, nonsense-mediated decay Source: UniProtKB
  5. regulation of dephosphorylation Source: HGNC
  6. RNA metabolic process Source: Reactome
  7. RNA phosphodiester bond hydrolysis, endonucleolytic Source: GOC
  8. telomere maintenance Source: HGNC
Complete GO annotation...

Keywords - Molecular functioni

Endonuclease, Hydrolase, Nuclease

Keywords - Biological processi

Nonsense-mediated mRNA decay

Keywords - Ligandi

DNA-binding, Manganese, Metal-binding

Enzyme and pathway databases

ReactomeiREACT_75822. Nonsense Mediated Decay (NMD) enhanced by the Exon Junction Complex (EJC).

Names & Taxonomyi

Protein namesi
Recommended name:
Telomerase-binding protein EST1A (EC:3.1.-.-)
Alternative name(s):
EST1-like protein A
Ever shorter telomeres 1A
Smg-6 homolog
Telomerase subunit EST1A
hSmg5/7a
Gene namesi
Name:SMG6
Synonyms:C17orf31, EST1A, KIAA0732
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 17

Organism-specific databases

HGNCiHGNC:17809. SMG6.

Subcellular locationi

Nucleusnucleolus. Chromosometelomere Curated. Cytoplasmcytosol
Note: Particularly enriched in the nucleolus.

GO - Cellular componenti

  1. chromosome, telomeric region Source: UniProtKB-KW
  2. cytoplasm Source: HGNC
  3. cytosol Source: UniProtKB
  4. nucleolus Source: HPA
  5. nucleus Source: HGNC
  6. telomerase holoenzyme complex Source: HGNC
Complete GO annotation...

Keywords - Cellular componenti

Chromosome, Cytoplasm, Nucleus, Telomere

Pathology & Biotechi

Mutagenesis

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Mutagenesisi46 – 527RPDLEIY → EPDLEIE: Alters interaction with the EJC. Loss of interaction with the EJC; when associated with 140-E--E-146. 1 Publication
Mutagenesisi140 – 1467KPDLQIY → EPDLQIE: Alters interaction with the EJC. Loss of interaction with the EJC; when associated with 46-E--E-52. 1 Publication
Mutagenesisi1251 – 12511D → A: Impaired nonsense-mediated RNA decay. 2 Publications
Mutagenesisi1251 – 12511D → N: Loss of endonuclease activity and nonsense-mediated RNA decay; when associated with N-1392. 2 Publications
Mutagenesisi1353 – 13531D → A: Abolishes RNase activity. 2 Publications
Mutagenesisi1392 – 13921D → A: Impaired nonsense-mediated RNA decay; when associated with A-1251. 2 Publications
Mutagenesisi1392 – 13921D → N: Loss of endonuclease activity and nonsense-mediated RNA decay; when associated with N-1251. 2 Publications

Organism-specific databases

PharmGKBiPA25584.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 14191419Telomerase-binding protein EST1APRO_0000087069Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Modified residuei332 – 3321PhosphoserineBy similarity
Modified residuei479 – 4791Phosphothreonine1 Publication

Keywords - PTMi

Phosphoprotein

Proteomic databases

MaxQBiQ86US8.
PaxDbiQ86US8.
PRIDEiQ86US8.

PTM databases

PhosphoSiteiQ86US8.

Expressioni

Tissue specificityi

Ubiquitous.2 Publications

Gene expression databases

BgeeiQ86US8.
CleanExiHS_SMG6.
ExpressionAtlasiQ86US8. baseline.
GenevestigatoriQ86US8.

Organism-specific databases

HPAiHPA042932.

Interactioni

Subunit structurei

May form homooligomers. 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). Interacts with TERT, independently of the telomerase RNA. Interacts with SMG1, SMG5, SMG7, UPF1, UPF2, UPF3B and the PP2A catalytic subunits. Also interacts with the exon junction complex (EJC) composed at least of CASC3, EIF4A3, MAGOH and RBM8A; required for the process of nonsense-mediated mRNA decay.6 Publications

Binary interactionsi

WithEntry#Exp.IntActNotes
UPF1Q92900-22EBI-3232100,EBI-373492

Protein-protein interaction databases

BioGridi116888. 11 interactions.
IntActiQ86US8. 5 interactions.
STRINGi9606.ENSP00000263073.

Structurei

Secondary structure

1
1419
Legend: HelixTurnBeta strand
Show more details
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Beta strandi1240 – 125011
Helixi1252 – 126817
Beta strandi1270 – 12767
Helixi1277 – 128711
Helixi1298 – 131922
Beta strandi1325 – 13284
Beta strandi1334 – 13363
Helixi1352 – 136110
Helixi1368 – 13714
Beta strandi1381 – 13899
Helixi1393 – 14019
Helixi1409 – 14168

3D structure databases

Select the link destinations:
PDBe
RCSB PDB
PDBj
Links Updated
EntryMethodResolution (Å)ChainPositionsPDBsum
2DOKX-ray1.80A/B1239-1419[»]
2HWWX-ray1.80A/B/C1239-1419[»]
2HWXX-ray1.90A1239-1419[»]
4UM2X-ray2.10A580-1166[»]
ProteinModelPortaliQ86US8.
SMRiQ86US8. Positions 616-823, 1239-1417.
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiQ86US8.

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini1246 – 1397152PINcAdd
BLAST

Region

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Regioni39 – 5921EJC-binding motif 1; mediates interaction with the EJCAdd
BLAST
Regioni114 – 503390Interaction with telomeric DNAAdd
BLAST
Regioni133 – 15321EJC-binding motif 2; mediates interaction with the EJCAdd
BLAST

Coiled coil

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Coiled coili163 – 19331Sequence AnalysisAdd
BLAST
Coiled coili567 – 62559Sequence AnalysisAdd
BLAST
Coiled coili1197 – 123943Sequence AnalysisAdd
BLAST

Domaini

The PINc domain confers endonuclease activity and is expected to bind the catalytic metal ion.2 Publications

Sequence similaritiesi

Contains 1 PINc domain.Curated

Keywords - Domaini

Coiled coil

Phylogenomic databases

eggNOGiNOG313444.
GeneTreeiENSGT00560000077120.
HOGENOMiHOG000112402.
HOVERGENiHBG051511.
InParanoidiQ86US8.
KOiK11124.
OMAiDAETMNK.
OrthoDBiEOG70PBWS.
PhylomeDBiQ86US8.
TreeFamiTF327119.

Family and domain databases

Gene3Di1.25.40.10. 1 hit.
3.40.50.1010. 2 hits.
InterProiIPR018834. DNA/RNA-bd_Est1-type.
IPR019458. EST1.
IPR002716. PIN_dom.
IPR029060. PIN_domain-like.
IPR011990. TPR-like_helical_dom.
[Graphical view]
PfamiPF10374. EST1. 1 hit.
PF10373. EST1_DNA_bind. 1 hit.
PF13638. PIN_4. 1 hit.
[Graphical view]
SMARTiSM00670. PINc. 1 hit.
[Graphical view]
SUPFAMiSSF88723. SSF88723. 2 hits.

Sequences (3)i

Sequence statusi: Complete.

This entry describes 3 isoformsi produced by alternative splicing. Align

Isoform 1 (identifier: Q86US8-1) [UniParc]FASTAAdd to Basket

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.

« Hide

        10         20         30         40         50
MAEGLERVRI SASELRGILA TLAPQAGSRE NMKELKEARP RKDNRRPDLE
60 70 80 90 100
IYKPGLSRLR NKPKIKEPPG SEEFKDEIVN DRDCSAVENG TQPVKDVCKE
110 120 130 140 150
LNNQEQNGPI DPENNRGQES FPRTAGQEDR SLKIIKRTKK PDLQIYQPGR
160 170 180 190 200
RLQTVSKESA SRVEEEEVLN QVEQLRVEED ECRGNVAKEE VANKPDRAEI
210 220 230 240 250
EKSPGGGRVG AAKGEKGKRM GKGEGVRETH DDPARGRPGS AKRYSRSDKR
260 270 280 290 300
RNRYRTRSTS SAGSNNSAEG AGLTDNGCRR RRQDRTKERP RLKKQVSVSS
310 320 330 340 350
TDSLDEDRID EPDGLGPRRS SERKRHLERN WSGRGEGEQK NSAKEYRGTL
360 370 380 390 400
RVTFDAEAMN KESPMVRSAR DDMDRGKPDK GLSSGGKGSE KQESKNPKQE
410 420 430 440 450
LRGRGRGILI LPAHTTLSVN SAGSPESAPL GPRLLFGSGS KGSRSWGRGG
460 470 480 490 500
TTRRLWDPNN PDQKPALKTQ TPQLHFLDTD DEVSPTSWGD SRQAQASYYK
510 520 530 540 550
FQNSDNPYYY PRTPGPASQY PYTGYNPLQY PVGPTNGVYP GPYYPGYPTP
560 570 580 590 600
SGQYVCSPLP TSTMSPEEVE QHMRNLQQQE LHRLLRVADN QELQLSNLLS
610 620 630 640 650
RDRISPEGLE KMAQLRAELL QLYERCILLD IEFSDNQNVD QILWKNAFYQ
660 670 680 690 700
VIEKFRQLVK DPNVENPEQI RNRLLELLDE GSDFFDSLLQ KLQVTYKFKL
710 720 730 740 750
EDYMDGLAIR SKPLRKTVKY ALISAQRCMI CQGDIARYRE QASDTANYGK
760 770 780 790 800
ARSWYLKAQH IAPKNGRPYN QLALLAVYTR RKLDAVYYYM RSLAASNPIL
810 820 830 840 850
TAKESLMSLF EETKRKAEQM EKKQHEEFDL SPDQWRKGKK STFRHVGDDT
860 870 880 890 900
TRLEIWIHPS HPRSSQGTES GKDSEQENGL GSLSPSDLNK RFILSFLHAH
910 920 930 940 950
GKLFTRIGME TFPAVAEKVL KEFQVLLQHS PSPIGSTRML QLMTINMFAV
960 970 980 990 1000
HNSQLKDCFS EECRSVIQEQ AAALGLAMFS LLVRRCTCLL KESAKAQLSS
1010 1020 1030 1040 1050
PEDQDDQDDI KVSSFVPDLK ELLPSVKVWS DWMLGYPDTW NPPPTSLDLP
1060 1070 1080 1090 1100
SHVAVDVWST LADFCNILTA VNQSEVPLYK DPDDDLTLLI LEEDRLLSGF
1110 1120 1130 1140 1150
VPLLAAPQDP CYVEKTSDKV IAADCKRVTV LKYFLEALCG QEEPLLAFKG
1160 1170 1180 1190 1200
GKYVSVAPVP DTMGKEMGSQ EGTRLEDEEE DVVIEDFEED SEAEGSGGED
1210 1220 1230 1240 1250
DIRELRAKKL ALARKIAEQQ RRQEKIQAVL EDHSQMRQME LEIRPLFLVP
1260 1270 1280 1290 1300
DTNGFIDHLA SLARLLESRK YILVVPLIVI NELDGLAKGQ ETDHRAGGYA
1310 1320 1330 1340 1350
RVVQEKARKS IEFLEQRFES RDSCLRALTS RGNELESIAF RSEDITGQLG
1360 1370 1380 1390 1400
NNDDLILSCC LHYCKDKAKD FMPASKEEPI RLLREVVLLT DDRNLRVKAL
1410
TRNVPVRDIP AFLTWAQVG
Length:1,419
Mass (Da):160,462
Last modified:March 7, 2006 - v2
Checksum:i93FC7DDA68BD218C
GO
Isoform 2 (identifier: Q86US8-2) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-1089: Missing.
     1090-1119: ILEEDRLLSGFVPLLAAPQDPCYVEKTSDK → MRFRLCHQRGCCPHERENTCTCKMIISSLQ

Show »
Length:330
Mass (Da):37,465
Checksum:i11E6E60AC32D4F88
GO
Isoform 3 (identifier: Q86US8-3) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-908: Missing.

Show »
Length:511
Mass (Da):57,455
Checksum:i15650F8E808B11F4
GO

Sequence cautioni

The sequence AAH64916.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.
The sequence BAA34452.2 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti291 – 2911R → P.1 Publication
Corresponds to variant rs1885986 [ dbSNP | Ensembl ].
VAR_018499
Natural varianti294 – 2941K → Q.
Corresponds to variant rs216195 [ dbSNP | Ensembl ].
VAR_018500
Natural varianti341 – 3411N → T.2 Publications
Corresponds to variant rs1885987 [ dbSNP | Ensembl ].
VAR_018501
Natural varianti575 – 5751N → S.
Corresponds to variant rs34047637 [ dbSNP | Ensembl ].
VAR_050978
Natural varianti972 – 9721A → T.
Corresponds to variant rs903160 [ dbSNP | Ensembl ].
VAR_018502
Natural varianti984 – 9841R → C.
Corresponds to variant rs35173108 [ dbSNP | Ensembl ].
VAR_050979
Natural varianti1189 – 11891E → K.
Corresponds to variant rs58801957 [ dbSNP | Ensembl ].
VAR_061648
Natural varianti1233 – 12331H → R.
Corresponds to variant rs2273980 [ dbSNP | Ensembl ].
VAR_018503

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei1 – 10891089Missing in isoform 2. 1 PublicationVSP_010360Add
BLAST
Alternative sequencei1 – 908908Missing in isoform 3. 1 PublicationVSP_047157Add
BLAST
Alternative sequencei1090 – 111930ILEED…KTSDK → MRFRLCHQRGCCPHERENTC TCKMIISSLQ in isoform 2. 1 PublicationVSP_010361Add
BLAST

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
AY145883 mRNA. Translation: AAN46114.1.
AB018275 mRNA. Translation: BAA34452.2. Different initiation.
AL133597 mRNA. Translation: CAB63733.1.
AY168921 mRNA. Translation: AAO17581.1.
AK302964 mRNA. Translation: BAH13860.1.
AC090617 Genomic DNA. No translation available.
AL450226 Genomic DNA. No translation available.
CH471108 Genomic DNA. Translation: EAW90559.1.
BC064916 mRNA. Translation: AAH64916.1. Different initiation.
CCDSiCCDS11016.1. [Q86US8-1]
CCDS58498.1. [Q86US8-3]
PIRiT43475.
RefSeqiNP_001243756.1. NM_001256827.1. [Q86US8-3]
NP_001243757.1. NM_001256828.1. [Q86US8-3]
NP_001269255.1. NM_001282326.1. [Q86US8-2]
NP_060045.4. NM_017575.4. [Q86US8-1]
XP_005256626.1. XM_005256569.1.
XP_005256628.1. XM_005256571.2. [Q86US8-3]
UniGeneiHs.448342.

Genome annotation databases

EnsembliENST00000263073; ENSP00000263073; ENSG00000070366. [Q86US8-1]
ENST00000354901; ENSP00000346977; ENSG00000070366. [Q86US8-3]
ENST00000536871; ENSP00000440283; ENSG00000070366. [Q86US8-3]
GeneIDi23293.
KEGGihsa:23293.
UCSCiuc002fub.1. human. [Q86US8-1]
uc010vqv.1. human.
uc031qxw.1. human. [Q86US8-2]

Polymorphism databases

DMDMi91771922.

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
AY145883 mRNA. Translation: AAN46114.1 .
AB018275 mRNA. Translation: BAA34452.2 . Different initiation.
AL133597 mRNA. Translation: CAB63733.1 .
AY168921 mRNA. Translation: AAO17581.1 .
AK302964 mRNA. Translation: BAH13860.1 .
AC090617 Genomic DNA. No translation available.
AL450226 Genomic DNA. No translation available.
CH471108 Genomic DNA. Translation: EAW90559.1 .
BC064916 mRNA. Translation: AAH64916.1 . Different initiation.
CCDSi CCDS11016.1. [Q86US8-1 ]
CCDS58498.1. [Q86US8-3 ]
PIRi T43475.
RefSeqi NP_001243756.1. NM_001256827.1. [Q86US8-3 ]
NP_001243757.1. NM_001256828.1. [Q86US8-3 ]
NP_001269255.1. NM_001282326.1. [Q86US8-2 ]
NP_060045.4. NM_017575.4. [Q86US8-1 ]
XP_005256626.1. XM_005256569.1.
XP_005256628.1. XM_005256571.2. [Q86US8-3 ]
UniGenei Hs.448342.

3D structure databases

Select the link destinations:
PDBe
RCSB PDB
PDBj
Links Updated
Entry Method Resolution (Å) Chain Positions PDBsum
2DOK X-ray 1.80 A/B 1239-1419 [» ]
2HWW X-ray 1.80 A/B/C 1239-1419 [» ]
2HWX X-ray 1.90 A 1239-1419 [» ]
4UM2 X-ray 2.10 A 580-1166 [» ]
ProteinModelPortali Q86US8.
SMRi Q86US8. Positions 616-823, 1239-1417.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 116888. 11 interactions.
IntActi Q86US8. 5 interactions.
STRINGi 9606.ENSP00000263073.

PTM databases

PhosphoSitei Q86US8.

Polymorphism databases

DMDMi 91771922.

Proteomic databases

MaxQBi Q86US8.
PaxDbi Q86US8.
PRIDEi Q86US8.

Protocols and materials databases

DNASUi 23293.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000263073 ; ENSP00000263073 ; ENSG00000070366 . [Q86US8-1 ]
ENST00000354901 ; ENSP00000346977 ; ENSG00000070366 . [Q86US8-3 ]
ENST00000536871 ; ENSP00000440283 ; ENSG00000070366 . [Q86US8-3 ]
GeneIDi 23293.
KEGGi hsa:23293.
UCSCi uc002fub.1. human. [Q86US8-1 ]
uc010vqv.1. human.
uc031qxw.1. human. [Q86US8-2 ]

Organism-specific databases

CTDi 23293.
GeneCardsi GC17M001963.
H-InvDB HIX0013415.
HGNCi HGNC:17809. SMG6.
HPAi HPA042932.
MIMi 610963. gene.
neXtProti NX_Q86US8.
PharmGKBi PA25584.
HUGEi Search...
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG313444.
GeneTreei ENSGT00560000077120.
HOGENOMi HOG000112402.
HOVERGENi HBG051511.
InParanoidi Q86US8.
KOi K11124.
OMAi DAETMNK.
OrthoDBi EOG70PBWS.
PhylomeDBi Q86US8.
TreeFami TF327119.

Enzyme and pathway databases

Reactomei REACT_75822. Nonsense Mediated Decay (NMD) enhanced by the Exon Junction Complex (EJC).

Miscellaneous databases

ChiTaRSi SMG6. human.
EvolutionaryTracei Q86US8.
GeneWikii SMG6.
GenomeRNAii 23293.
NextBioi 45116.
PROi Q86US8.
SOURCEi Search...

Gene expression databases

Bgeei Q86US8.
CleanExi HS_SMG6.
ExpressionAtlasi Q86US8. baseline.
Genevestigatori Q86US8.

Family and domain databases

Gene3Di 1.25.40.10. 1 hit.
3.40.50.1010. 2 hits.
InterProi IPR018834. DNA/RNA-bd_Est1-type.
IPR019458. EST1.
IPR002716. PIN_dom.
IPR029060. PIN_domain-like.
IPR011990. TPR-like_helical_dom.
[Graphical view ]
Pfami PF10374. EST1. 1 hit.
PF10373. EST1_DNA_bind. 1 hit.
PF13638. PIN_4. 1 hit.
[Graphical view ]
SMARTi SM00670. PINc. 1 hit.
[Graphical view ]
SUPFAMi SSF88723. SSF88723. 2 hits.
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. "A human homolog of yeast est1 associates with telomerase and uncaps chromosome ends when overexpressed."
    Reichenbach P., Hoess M., Azzalin C.M., Nabholz M., Bucher P., Lingner J.
    Curr. Biol. 13:568-574(2003) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), VARIANT THR-341, FUNCTION IN TELOMERE REGULATION, TISSUE SPECIFICITY, SUBCELLULAR LOCATION, IDENTIFICATION IN THE TELOMERASE RIBONUCLEOPROTEIN COMPLEX.
    Tissue: Cervix carcinoma.
  2. "Prediction of the coding sequences of unidentified human genes. XI. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro."
    Nagase T., Ishikawa K., Suyama M., Kikuno R., Miyajima N., Tanaka A., Kotani H., Nomura N., Ohara O.
    DNA Res. 5:277-286(1998) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), VARIANTS PRO-291 AND THR-341.
    Tissue: Brain.
  3. "Construction of expression-ready cDNA clones for KIAA genes: manual curation of 330 KIAA cDNA clones."
    Nakajima D., Okazaki N., Yamakawa H., Kikuno R., Ohara O., Nagase T.
    DNA Res. 9:99-106(2002) [PubMed] [Europe PMC] [Abstract]
    Cited for: SEQUENCE REVISION.
  4. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
    Tissue: Testis.
  5. "Functional conservation of the telomerase protein Est1p in humans."
    Snow B.E., Erdmann N., Cruickshank J., Goldman H., Gill R.M., Robinson M.O., Harrington L.
    Curr. Biol. 13:698-704(2003) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 32-1419 (ISOFORM 1), FUNCTION IN TELOMERE REGULATION, TISSUE SPECIFICITY, SINGLE-STRANDED TELOMERE DNA-BINDING, IDENTIFICATION IN THE TELOMERASE RIBONUCLEOPROTEIN COMPLEX, INTERACTION WITH TERT.
  6. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
    Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
    , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
    Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 3).
    Tissue: Testis.
  7. "DNA sequence of human chromosome 17 and analysis of rearrangement in the human lineage."
    Zody M.C., Garber M., Adams D.J., Sharpe T., Harrow J., Lupski J.R., Nicholson C., Searle S.M., Wilming L., Young S.K., Abouelleil A., Allen N.R., Bi W., Bloom T., Borowsky M.L., Bugalter B.E., Butler J., Chang J.L.
    , Chen C.-K., Cook A., Corum B., Cuomo C.A., de Jong P.J., DeCaprio D., Dewar K., FitzGerald M., Gilbert J., Gibson R., Gnerre S., Goldstein S., Grafham D.V., Grocock R., Hafez N., Hagopian D.S., Hart E., Norman C.H., Humphray S., Jaffe D.B., Jones M., Kamal M., Khodiyar V.K., LaButti K., Laird G., Lehoczky J., Liu X., Lokyitsang T., Loveland J., Lui A., Macdonald P., Major J.E., Matthews L., Mauceli E., McCarroll S.A., Mihalev A.H., Mudge J., Nguyen C., Nicol R., O'Leary S.B., Osoegawa K., Schwartz D.C., Shaw-Smith C., Stankiewicz P., Steward C., Swarbreck D., Venkataraman V., Whittaker C.A., Yang X., Zimmer A.R., Bradley A., Hubbard T., Birren B.W., Rogers J., Lander E.S., Nusbaum C.
    Nature 440:1045-1049(2006) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  8. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  9. "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] OF 888-1419 (ISOFORM 1).
    Tissue: Testis.
  10. "Characterization of human Smg5/7a: a protein with similarities to Caenorhabditis elegans SMG5 and SMG7 that functions in the dephosphorylation of Upf1."
    Chiu S.-Y., Serin G., Ohara O., Maquat L.E.
    RNA 9:77-87(2003) [PubMed] [Europe PMC] [Abstract]
    Cited for: INTERACTION WITH PP2A CATALYTIC SUBUNITS; SMG1; UPF1; UPF2 AND UPF3B.
  11. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    Tissue: Cervix carcinoma.
  12. "SMG6 is the catalytic endonuclease that cleaves mRNAs containing nonsense codons in metazoan."
    Huntzinger E., Kashima I., Fauser M., Sauliere J., Izaurralde E.
    RNA 14:2609-2617(2008) [PubMed] [Europe PMC] [Abstract]
    Cited for: FUNCTION IN NONSENSE-MEDIATED MRNA DECAY, CATALYTIC ACTIVITY, DOMAIN, MUTAGENESIS OF ASP-1251 AND ASP-1392.
  13. "SMG6 promotes endonucleolytic cleavage of nonsense mRNA in human cells."
    Eberle A.B., Lykke-Andersen S., Muhlemann O., Jensen T.H.
    Nat. Struct. Mol. Biol. 16:49-55(2009) [PubMed] [Europe PMC] [Abstract]
    Cited for: FUNCTION IN NONSENSE-MEDIATED MRNA DECAY, CATALYTIC ACTIVITY, DOMAIN, SUBCELLULAR LOCATION, INTERACTION WITH UPF1, MUTAGENESIS OF ASP-1251; ASP-1353 AND ASP-1392.
  14. "Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions."
    Mayya V., Lundgren D.H., Hwang S.-I., Rezaul K., Wu L., Eng J.K., Rodionov V., Han D.K.
    Sci. Signal. 2:RA46-RA46(2009) [PubMed] [Europe PMC] [Abstract]
    Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT THR-479, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    Tissue: Leukemic T-cell.
  15. "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.
  16. "SMG6 interacts with the exon junction complex via two conserved EJC-binding motifs (EBMs) required for nonsense-mediated mRNA decay."
    Kashima I., Jonas S., Jayachandran U., Buchwald G., Conti E., Lupas A.N., Izaurralde E.
    Genes Dev. 24:2440-2450(2010) [PubMed] [Europe PMC] [Abstract]
    Cited for: FUNCTION IN NONSENSE-MEDIATED MRNA DECAY, HOMOOLIGOMERIZATION, INTERACTION WITH UPF1; UPF2; UPF3B; SMG5; SMG7 AND THE EXON JUNCTION COMPLEX, MUTAGENESIS OF 46-ARG--TYR-52 AND 140-LYS--TYR-146.
  17. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
  18. "Structures of the PIN domains of SMG6 and SMG5 reveal a nuclease within the mRNA surveillance complex."
    Glavan F., Behm-Ansmant I., Izaurralde E., Conti E.
    EMBO J. 25:5117-5125(2006) [PubMed] [Europe PMC] [Abstract]
    Cited for: X-RAY CRYSTALLOGRAPHY (1.80 ANGSTROMS) OF 1239-1419, FUNCTION, COFACTOR, CATALYTIC ACTIVITY, MUTAGENESIS OF ASP-1353.
  19. "Crystal structure of the PIN domain of human telomerase-associated protein EST1A."
    Takeshita D., Zenno S., Lee W.C., Saigo K., Tanokura M.
    Proteins 68:980-989(2007) [PubMed] [Europe PMC] [Abstract]
    Cited for: X-RAY CRYSTALLOGRAPHY (1.8 ANGSTROMS) OF 1239-1419.

Entry informationi

Entry nameiEST1A_HUMAN
AccessioniPrimary (citable) accession number: Q86US8
Secondary accession number(s): B7Z874
, O94837, Q86VH6, Q9UF60
Entry historyi
Integrated into UniProtKB/Swiss-Prot: May 24, 2004
Last sequence update: March 7, 2006
Last modified: October 29, 2014
This is version 124 of the entry and version 2 of the sequence. [Complete history]
Entry statusiReviewed (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.

Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, Reference proteome

Documents

  1. Human chromosome 17
    Human chromosome 17: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  6. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3