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Protein

Telomerase-binding protein EST1A

Gene

SMG6

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: 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

Mn2+1 Publication

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Metal bindingi1251Manganese; catalyticCurated1
Metal bindingi1353Manganese; catalyticCurated1
Metal bindingi1392Manganese; catalyticCurated1

GO - Molecular functioni

  • DNA polymerase binding Source: BHF-UCL
  • endoribonuclease activity Source: UniProtKB
  • metal ion binding Source: UniProtKB-KW
  • ribonucleoprotein complex binding Source: BHF-UCL
  • telomerase RNA binding Source: BHF-UCL
  • telomeric DNA binding Source: HGNC

GO - Biological processi

  • mRNA export from nucleus Source: HGNC
  • negative regulation of telomere capping Source: BHF-UCL
  • nuclear-transcribed mRNA catabolic process, nonsense-mediated decay Source: UniProtKB
  • regulation of dephosphorylation Source: HGNC
  • regulation of RNA stability Source: GO_Central
  • regulation of telomere maintenance via telomerase Source: BHF-UCL
  • 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

ReactomeiR-HSA-975957. 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
Proteomesi
  • UP000005640 Componenti: Chromosome 17

Organism-specific databases

HGNCiHGNC:17809. SMG6.

Subcellular locationi

GO - Cellular componenti

  • chromosome, telomeric region Source: UniProtKB-SubCell
  • cytoplasm Source: HGNC
  • cytosol Source: UniProtKB
  • nucleolus Source: BHF-UCL
  • nucleus Source: HGNC
  • telomerase holoenzyme complex Source: HGNC
Complete GO annotation...

Keywords - Cellular componenti

Chromosome, Cytoplasm, Nucleus, Telomere

Pathology & Biotechi

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Mutagenesisi46 – 52RPDLEIY → EPDLEIE: Alters interaction with the EJC. Loss of interaction with the EJC; when associated with 140-E--E-146. 1 Publication7
Mutagenesisi140 – 146KPDLQIY → EPDLQIE: Alters interaction with the EJC. Loss of interaction with the EJC; when associated with 46-E--E-52. 1 Publication7
Mutagenesisi1251D → A: Impaired nonsense-mediated RNA decay. 2 Publications1
Mutagenesisi1251D → N: Loss of endonuclease activity and nonsense-mediated RNA decay; when associated with N-1392. 2 Publications1
Mutagenesisi1353D → A: Abolishes RNase activity. 2 Publications1
Mutagenesisi1392D → A: Impaired nonsense-mediated RNA decay; when associated with A-1251. 2 Publications1
Mutagenesisi1392D → N: Loss of endonuclease activity and nonsense-mediated RNA decay; when associated with N-1251. 2 Publications1

Organism-specific databases

DisGeNETi23293.
OpenTargetsiENSG00000070366.
PharmGKBiPA25584.

Polymorphism and mutation databases

BioMutaiSMG6.
DMDMi91771922.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000870691 – 1419Telomerase-binding protein EST1AAdd BLAST1419

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei203PhosphoserineCombined sources1
Modified residuei332PhosphoserineBy similarity1
Modified residuei406Omega-N-methylarginineBy similarity1
Modified residuei433Omega-N-methylarginineBy similarity1
Modified residuei471PhosphothreonineBy similarity1
Modified residuei479PhosphothreonineCombined sources1
Modified residuei484PhosphoserineCombined sources1
Modified residuei831PhosphoserineCombined sources1
Modified residuei870PhosphoserineCombined sources1
Modified residuei874PhosphoserineCombined sources1

Keywords - PTMi

Methylation, Phosphoprotein

Proteomic databases

EPDiQ86US8.
MaxQBiQ86US8.
PaxDbiQ86US8.
PeptideAtlasiQ86US8.
PRIDEiQ86US8.

PTM databases

iPTMnetiQ86US8.
PhosphoSitePlusiQ86US8.

Expressioni

Tissue specificityi

Ubiquitous.2 Publications

Gene expression databases

BgeeiENSG00000070366.
CleanExiHS_SMG6.
ExpressionAtlasiQ86US8. baseline and differential.
GenevisibleiQ86US8. HS.

Organism-specific databases

HPAiHPA042932.
HPA052205.

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

GO - Molecular functioni

  • DNA polymerase binding Source: BHF-UCL

Protein-protein interaction databases

BioGridi116888. 20 interactors.
IntActiQ86US8. 6 interactors.
STRINGi9606.ENSP00000263073.

Structurei

Secondary structure

11419
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Helixi580 – 600Combined sources21
Beta strandi601 – 603Combined sources3
Helixi606 – 629Combined sources24
Helixi631 – 636Combined sources6
Helixi639 – 647Combined sources9
Helixi649 – 660Combined sources12
Helixi667 – 696Combined sources30
Helixi700 – 703Combined sources4
Helixi716 – 742Combined sources27
Helixi749 – 761Combined sources13
Helixi767 – 778Combined sources12
Helixi782 – 793Combined sources12
Beta strandi795 – 797Combined sources3
Helixi801 – 820Combined sources20
Helixi880 – 882Combined sources3
Helixi885 – 905Combined sources21
Helixi909 – 911Combined sources3
Helixi912 – 928Combined sources17
Beta strandi929 – 931Combined sources3
Helixi936 – 951Combined sources16
Helixi966 – 992Combined sources27
Helixi1001 – 1003Combined sources3
Helixi1006 – 1008Combined sources3
Helixi1012 – 1014Combined sources3
Helixi1017 – 1020Combined sources4
Helixi1023 – 1035Combined sources13
Helixi1037 – 1039Combined sources3
Helixi1057 – 1068Combined sources12
Beta strandi1079 – 1081Combined sources3
Beta strandi1086 – 1088Combined sources3
Helixi1092 – 1097Combined sources6
Helixi1101 – 1105Combined sources5
Beta strandi1112 – 1114Combined sources3
Helixi1119 – 1139Combined sources21
Beta strandi1140 – 1143Combined sources4
Beta strandi1145 – 1149Combined sources5
Beta strandi1152 – 1155Combined sources4
Beta strandi1240 – 1250Combined sources11
Helixi1252 – 1268Combined sources17
Beta strandi1270 – 1276Combined sources7
Helixi1277 – 1287Combined sources11
Helixi1298 – 1319Combined sources22
Beta strandi1325 – 1328Combined sources4
Beta strandi1334 – 1336Combined sources3
Helixi1352 – 1361Combined sources10
Helixi1368 – 1371Combined sources4
Beta strandi1381 – 1389Combined sources9
Helixi1393 – 1401Combined sources9
Helixi1409 – 1416Combined sources8

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
2DOKX-ray1.80A/B1239-1419[»]
2HWWX-ray1.80A/B/C1239-1419[»]
2HWXX-ray1.90A1239-1419[»]
4UM2X-ray2.10A580-1166[»]
ProteinModelPortaliQ86US8.
SMRiQ86US8.
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiQ86US8.

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini1246 – 1397PINcAdd BLAST152

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni39 – 59EJC-binding motif 1; mediates interaction with the EJCAdd BLAST21
Regioni114 – 503Interaction with telomeric DNAAdd BLAST390
Regioni133 – 153EJC-binding motif 2; mediates interaction with the EJCAdd BLAST21

Coiled coil

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Coiled coili163 – 193Sequence analysisAdd BLAST31
Coiled coili567 – 625Sequence analysisAdd BLAST59
Coiled coili1197 – 1239Sequence analysisAdd BLAST43

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

eggNOGiKOG2162. Eukaryota.
ENOG410XR9Z. LUCA.
GeneTreeiENSGT00560000077120.
HOGENOMiHOG000112402.
HOVERGENiHBG051511.
InParanoidiQ86US8.
KOiK11124.
OMAiSRENMKE.
OrthoDBiEOG091G0417.
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]
SUPFAMiSSF48452. SSF48452. 2 hits.
SSF88723. SSF88723. 2 hits.

Sequences (3)i

Sequence statusi: Complete.

This entry describes 3 isoformsi produced by alternative splicing. AlignAdd to basket

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

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_018499291R → P.1 PublicationCorresponds to variant rs1885986dbSNPEnsembl.1
Natural variantiVAR_018500294K → Q.Corresponds to variant rs216195dbSNPEnsembl.1
Natural variantiVAR_018501341N → T.2 PublicationsCorresponds to variant rs1885987dbSNPEnsembl.1
Natural variantiVAR_050978575N → S.Corresponds to variant rs34047637dbSNPEnsembl.1
Natural variantiVAR_018502972A → T.Corresponds to variant rs903160dbSNPEnsembl.1
Natural variantiVAR_050979984R → C.Corresponds to variant rs35173108dbSNPEnsembl.1
Natural variantiVAR_0616481189E → K.Corresponds to variant rs58801957dbSNPEnsembl.1
Natural variantiVAR_0185031233H → R.Corresponds to variant rs2273980dbSNPEnsembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0103601 – 1089Missing in isoform 2. 1 PublicationAdd BLAST1089
Alternative sequenceiVSP_0471571 – 908Missing in isoform 3. 1 PublicationAdd BLAST908
Alternative sequenceiVSP_0103611090 – 1119ILEED…KTSDK → MRFRLCHQRGCCPHERENTC TCKMIISSLQ in isoform 2. 1 PublicationAdd BLAST30

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
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_005256569.3.
XP_005256628.1. XM_005256571.4. [Q86US8-3]
XP_011522071.1. XM_011523769.2.
XP_011522077.1. XM_011523775.2. [Q86US8-3]
XP_016879888.1. XM_017024399.1. [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.2. human. [Q86US8-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
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_005256569.3.
XP_005256628.1. XM_005256571.4. [Q86US8-3]
XP_011522071.1. XM_011523769.2.
XP_011522077.1. XM_011523775.2. [Q86US8-3]
XP_016879888.1. XM_017024399.1. [Q86US8-3]
UniGeneiHs.448342.

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
2DOKX-ray1.80A/B1239-1419[»]
2HWWX-ray1.80A/B/C1239-1419[»]
2HWXX-ray1.90A1239-1419[»]
4UM2X-ray2.10A580-1166[»]
ProteinModelPortaliQ86US8.
SMRiQ86US8.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi116888. 20 interactors.
IntActiQ86US8. 6 interactors.
STRINGi9606.ENSP00000263073.

PTM databases

iPTMnetiQ86US8.
PhosphoSitePlusiQ86US8.

Polymorphism and mutation databases

BioMutaiSMG6.
DMDMi91771922.

Proteomic databases

EPDiQ86US8.
MaxQBiQ86US8.
PaxDbiQ86US8.
PeptideAtlasiQ86US8.
PRIDEiQ86US8.

Protocols and materials databases

DNASUi23293.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

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

Organism-specific databases

CTDi23293.
DisGeNETi23293.
GeneCardsiSMG6.
H-InvDBHIX0013415.
HGNCiHGNC:17809. SMG6.
HPAiHPA042932.
HPA052205.
MIMi610963. gene.
neXtProtiNX_Q86US8.
OpenTargetsiENSG00000070366.
PharmGKBiPA25584.
HUGEiSearch...
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG2162. Eukaryota.
ENOG410XR9Z. LUCA.
GeneTreeiENSGT00560000077120.
HOGENOMiHOG000112402.
HOVERGENiHBG051511.
InParanoidiQ86US8.
KOiK11124.
OMAiSRENMKE.
OrthoDBiEOG091G0417.
PhylomeDBiQ86US8.
TreeFamiTF327119.

Enzyme and pathway databases

ReactomeiR-HSA-975957. Nonsense Mediated Decay (NMD) enhanced by the Exon Junction Complex (EJC).

Miscellaneous databases

ChiTaRSiSMG6. human.
EvolutionaryTraceiQ86US8.
GeneWikiiSMG6.
GenomeRNAii23293.
PROiQ86US8.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000070366.
CleanExiHS_SMG6.
ExpressionAtlasiQ86US8. baseline and differential.
GenevisibleiQ86US8. HS.

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]
SUPFAMiSSF48452. SSF48452. 2 hits.
SSF88723. SSF88723. 2 hits.
ProtoNetiSearch...

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: November 30, 2016
This is version 143 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

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.