Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.

UniProtKB - Q86US8 (EST1A_HUMAN)

Entry version 172 (10 Feb 2021)
Sequence version 2 (07 Mar 2006)
Previous versions | rss
Add a publicationFeedback
Protein

Telomerase-binding protein EST1A

Gene

SMG6

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

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the 'protein existence' evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

Component of the telomerase ribonucleoprotein (RNP) complex that is essential for the replication of chromosome termini (PubMed:19179534). May have a general role in telomere regulation (PubMed:12676087, PubMed:12699629). Promotes in vitro the ability of TERT to elongate telomeres (PubMed:12676087, PubMed:12699629). Overexpression induces telomere uncapping, chromosomal end-to-end fusions (telomeric DNA persists at the fusion points) and did not perturb TRF2 telomeric localization (PubMed:12676087, PubMed:12699629). Binds to the single-stranded 5'-(GTGTGG)4GTGT-3' telomeric DNA, but not to a telomerase RNA template component (TER) (PubMed:12676087, PubMed:12699629).3 Publications
Plays a role in nonsense-mediated mRNA decay (PubMed:18974281, PubMed:19060897, PubMed:20930030, PubMed:17053788). 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 (PubMed:18974281, PubMed:19060897, PubMed:20930030, PubMed:17053788). Degrades single-stranded RNA (ssRNA), but not ssDNA or dsRNA (PubMed:18974281, PubMed:19060897, PubMed:20930030, PubMed:17053788).4 Publications

<p>This subsection of the 'Function' section provides information relevant to cofactors. A cofactor is any non-protein substance required for a protein to be catalytically active. Some cofactors are inorganic, such as the metal atoms zinc, iron, and copper in various oxidation states. Others, such as most vitamins, are organic.<p><a href='/help/cofactor' target='_top'>More...</a></p>Cofactori

Mn2+1 Publication

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/function%5Fsection">Function</a> section indicates at which position the protein binds a given metal ion. The nature of the metal is indicated in the 'Description' field.<p><a href='/help/metal' target='_top'>More...</a></p>Metal bindingi1251Manganese; catalyticCurated1
Metal bindingi1353Manganese; catalyticCurated1
Metal bindingi1392Manganese; catalyticCurated1

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

Complete GO annotation on QuickGO ...

GO - Biological processi

Complete GO annotation on QuickGO ...

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Molecular functionDNA-binding, Endonuclease, Hydrolase, Nuclease
Biological processNonsense-mediated mRNA decay
LigandManganese, Metal-binding

Enzyme and pathway databases

Pathway Commons web resource for biological pathway data

More...PathwayCommonsi		Q86US8

Reactome - a knowledgebase of biological pathways and processes

More...Reactomei		R-HSA-975957, Nonsense Mediated Decay (NMD) enhanced by the Exon Junction Complex (EJC)

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>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
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: 'Name', 'Synonyms', 'Ordered locus names' and 'ORF names'.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:SMG6
Synonyms:C17orf31, EST1A, KIAA0732
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the 'taxonomic identifier' or 'taxid'.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes%5Fmanual">proteome</a> can consist of several components.<br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 17

Organism-specific databases

Human Gene Nomenclature Database

More...HGNCi		HGNC:17809, SMG6

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		610963, gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_Q86US8

Eukaryotic Pathogen, Vector and Host Database Resources

More...VEuPathDBi		HostDB:ENSG00000070366.13

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte & Seán O’Donoghue; Source: COMPARTMENTS

Keywords - Cellular componenti

Chromosome, Cytoplasm, Nucleus, Telomere

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/manual/pathology%5Fand%5Fbiotech%5Fsection">'Pathology and Biotech'</a> section describes the effect of the experimental mutation of one or more amino acid(s) on the biological properties of the protein.<p><a href='/help/mutagen' target='_top'>More...</a></p>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

DisGeNET

More...DisGeNETi		23293

Open Targets

More...OpenTargetsi		ENSG00000070366

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA25584

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...Pharosi		Q86US8, Tbio

Chemistry databases

Drug and drug target database

More...DrugBanki		DB05036, Grn163l

Genetic variation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		SMG6

Domain mapping of disease mutations (DMDM)

More...DMDMi		91771922

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'PTM / Processing' section describes the extent of a polypeptide chain in the mature protein following processing or proteolytic cleavage.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00000870691 – 1419Telomerase-binding protein EST1AAdd BLAST1419

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'PTM / Processing' section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>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

Encyclopedia of Proteome Dynamics

More...EPDi		Q86US8

jPOST - Japan Proteome Standard Repository/Database

More...jPOSTi		Q86US8

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...MassIVEi		Q86US8

MaxQB - The MaxQuant DataBase

More...MaxQBi		Q86US8

PaxDb, a database of protein abundance averages across all three domains of life

More...PaxDbi		Q86US8

PeptideAtlas

More...PeptideAtlasi		Q86US8

PRoteomics IDEntifications database

More...PRIDEi		Q86US8

ProteomicsDB: a multi-organism proteome resource

More...ProteomicsDBi		6930
69880 [Q86US8-1]
69881 [Q86US8-2]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		Q86US8

MetOSite database of methionine sulfoxide sites

More...MetOSitei		Q86US8

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...PhosphoSitePlusi		Q86US8

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

<p>This subsection of the 'Expression' section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified 'at protein level'.<br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

Ubiquitous.2 Publications

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...Bgeei		ENSG00000070366, Expressed in right ovary and 175 other tissues

ExpressionAtlas, Differential and Baseline Expression

More...ExpressionAtlasi		Q86US8, baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		Q86US8, HS

Organism-specific databases

Human Protein Atlas

More...HPAi		ENSG00000070366, Low tissue specificity

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction%5Fsection">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function%5Fsection">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

May form homooligomers (PubMed:20930030). Associated component of the telomerase holoenzyme complex (PubMed:19179534).

Interacts with TERT, independently of the telomerase RNA (PubMed:12676087, PubMed:12699629).

Interacts with SMG1, SMG5, SMG7, UPF1, UPF2, UPF3B and the PP2A catalytic subunits (PubMed:12554878, PubMed:19060897, PubMed:20930030).

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 (PubMed:20930030).

6 Publications

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction%5Fsection">Interaction</a>' section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="https://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated at every <a href="http://www.uniprot.org/help/synchronization">UniProt release</a>.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

Hide details

GO - Molecular functioni

Complete GO annotation on QuickGO ...

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGRID)

More...BioGRIDi		116888, 29 interactors

CORUM comprehensive resource of mammalian protein complexes

More...CORUMi		Q86US8

Protein interaction database and analysis system

More...IntActi		Q86US8, 20 interactors

Molecular INTeraction database

More...MINTi		Q86US8

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000263073

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...RNActi		Q86US8, protein

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

Secondary structure

11419
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

SWISS-MODEL Repository - a database of annotated 3D protein structure models

More...SMRi		Q86US8

Database of comparative protein structure models

More...ModBasei		Search...

Protein Data Bank in Europe - Knowledge Base

More...PDBe-KBi		Search...

Miscellaneous databases

Relative evolutionary importance of amino acids within a protein sequence

More...EvolutionaryTracei		Q86US8

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/family%5Fand%5Fdomains%5Fsection">Family and Domains</a> section describes the position and type of a domain, which is defined as a specific combination of secondary structures organized into a characteristic three-dimensional structure or fold.<p><a href='/help/domain' target='_top'>More...</a></p>Domaini1246 – 1397PINcAdd BLAST152

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Family and Domains' section describes a region of interest that cannot be described in other subsections.<p><a href='/help/region' target='_top'>More...</a></p>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
<p>This subsection of the 'Family and domains' section denotes the positions of regions of coiled coil within the protein.<p><a href='/help/coiled' target='_top'>More...</a></p>Coiled coili163 – 193Sequence analysisAdd BLAST31
Coiled coili567 – 625Sequence analysisAdd BLAST59
Coiled coili1197 – 1239Sequence analysisAdd BLAST43

<p>This subsection of the 'Family and domains' section provides general information on the biological role of a domain. The term 'domain' is intended here in its wide acceptation, it may be a structural domain, a transmembrane region or a functional domain. Several domains are described in this subsection.<p><a href='/help/domain_cc' target='_top'>More...</a></p>Domaini

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

Keywords - Domaini

Coiled coil

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...eggNOGi		KOG2162, Eukaryota

Ensembl GeneTree

More...GeneTreei		ENSGT00940000155300

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...HOGENOMi		CLU_004735_0_0_1

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		Q86US8

Identification of Orthologs from Complete Genome Data

More...OMAi		CSPDVWQ

Database of Orthologous Groups

More...OrthoDBi		556396at2759

Database for complete collections of gene phylogenies

More...PhylomeDBi		Q86US8

TreeFam database of animal gene trees

More...TreeFami		TF327119

Family and domain databases

Gene3D Structural and Functional Annotation of Protein Families

More...Gene3Di		1.25.40.10, 1 hit

Integrated resource of protein families, domains and functional sites

More...InterProi		View protein in InterPro
IPR018834, DNA/RNA-bd_Est1-type
IPR019458, EST1
IPR029060, PIN-like_dom_sf
IPR002716, PIN_dom
IPR011990, TPR-like_helical_dom_sf

Pfam protein domain database

More...Pfami		View protein in Pfam
PF10374, EST1, 1 hit
PF10373, EST1_DNA_bind, 1 hit
PF13638, PIN_4, 1 hit

Simple Modular Architecture Research Tool; a protein domain database

More...SMARTi		View protein in SMART
SM00670, PINc, 1 hit

Superfamily database of structural and functional annotation

More...SUPFAMi		SSF48452, SSF48452, 1 hit
SSF88723, SSF88723, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence%5Flength">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (3+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

This entry describes 3 <p>This subsection of the 'Sequence' section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform. This section is only present in reviewed entries, i.e. in UniProtKB/Swiss-Prot.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 3 described isoforms and 9 potential isoforms that are computationally mapped.Show allAlign All

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

This isoform has been chosen as the <div> <p><b>What is the canonical sequence?</b><p><a href='/help/canonical_and_isoforms' target='_top'>More...</a></p>canonicali 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
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> 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

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There are 9 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
I3L390I3L390_HUMAN
Telomerase-binding protein EST1A
SMG6
208Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
I3L355I3L355_HUMAN
Telomerase-binding protein EST1A
SMG6
123Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
I3L176I3L176_HUMAN
Telomerase-binding protein EST1A
SMG6
162Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
I3L1W8I3L1W8_HUMAN
Telomerase-binding protein EST1A
SMG6
164Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
I3L3A9I3L3A9_HUMAN
Telomerase-binding protein EST1A
SMG6
119Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
I3L421I3L421_HUMAN
Telomerase-binding protein EST1A
SMG6
163Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
K7ENH7K7ENH7_HUMAN
Telomerase-binding protein EST1A
SMG6
115Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
K7EKV2K7EKV2_HUMAN
Telomerase-binding protein EST1A
SMG6
138Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
K7ELM2K7ELM2_HUMAN
Telomerase-binding protein EST1A
SMG6
124Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

<p>This subsection of the 'Sequence' section reports difference(s) between the protein sequence shown in the UniProtKB entry and other available protein sequences derived from the same gene.<p><a href='/help/sequence_caution' target='_top'>More...</a></p>Sequence cautioni

The sequence AAH64916 differs from that shown. Reason: Erroneous initiation. Truncated N-terminus.Curated
The sequence BAA34452 differs from that shown. Reason: Erroneous initiation. Extended N-terminus.Curated

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_018499291R → P1 PublicationCorresponds to variant dbSNP:rs1885986Ensembl.1
Natural variantiVAR_018500294K → Q. Corresponds to variant dbSNP:rs216195Ensembl.1
Natural variantiVAR_018501341N → T2 PublicationsCorresponds to variant dbSNP:rs1885987Ensembl.1
Natural variantiVAR_050978575N → S. Corresponds to variant dbSNP:rs34047637Ensembl.1
Natural variantiVAR_018502972A → T. Corresponds to variant dbSNP:rs903160Ensembl.1
Natural variantiVAR_050979984R → C. Corresponds to variant dbSNP:rs35173108Ensembl.1
Natural variantiVAR_0616481189E → K. Corresponds to variant dbSNP:rs58801957EnsemblClinVar.1
Natural variantiVAR_0185031233H → R. Corresponds to variant dbSNP:rs2273980Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting.<p><a href='/help/var_seq' target='_top'>More...</a></p>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:

EMBL nucleotide sequence database

More...EMBLi

GenBank nucleotide sequence database

More...GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...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.

The Consensus CDS (CCDS) project

More...CCDSi		CCDS11016.1 [Q86US8-1]
CCDS58498.1 [Q86US8-3]

Protein sequence database of the Protein Information Resource

More...PIRi		T43475

NCBI Reference Sequences

More...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_005256569.3
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]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000263073; ENSP00000263073; ENSG00000070366 [Q86US8-1]
ENST00000354901; ENSP00000346977; ENSG00000070366 [Q86US8-3]
ENST00000536871; ENSP00000440283; ENSG00000070366 [Q86US8-3]

Database of genes from NCBI RefSeq genomes

More...GeneIDi		23293

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:23293

UCSC genome browser

More...UCSCi		uc002fub.2, human [Q86US8-1]

Keywords - Coding sequence diversityi

Alternative splicing

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>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]

3D structure databases

Select the link destinations:

Protein Data Bank Europe

More...PDBei

Protein Data Bank RCSB

More...RCSB PDBi

Protein Data Bank Japan

More...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[»]
SMRiQ86US8
ModBaseiSearch...
PDBe-KBiSearch...

Protein-protein interaction databases

BioGRIDi116888, 29 interactors
CORUMiQ86US8
IntActiQ86US8, 20 interactors
MINTiQ86US8
STRINGi9606.ENSP00000263073

Chemistry databases

DrugBankiDB05036, Grn163l

PTM databases

iPTMnetiQ86US8
MetOSiteiQ86US8
PhosphoSitePlusiQ86US8

Genetic variation databases

BioMutaiSMG6
DMDMi91771922

Proteomic databases

EPDiQ86US8
jPOSTiQ86US8
MassIVEiQ86US8
MaxQBiQ86US8
PaxDbiQ86US8
PeptideAtlasiQ86US8
PRIDEiQ86US8
ProteomicsDBi6930
69880 [Q86US8-1]
69881 [Q86US8-2]

Protocols and materials databases

Antibodypedia a portal for validated antibodies

More...Antibodypediai		50527, 68 antibodies

The DNASU plasmid repository

More...DNASUi		23293

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

Comparative Toxicogenomics Database

More...CTDi		23293
DisGeNETi23293

GeneCards: human genes, protein and diseases

More...GeneCardsi		SMG6
HGNCiHGNC:17809, SMG6
HPAiENSG00000070366, Low tissue specificity
MIMi610963, gene
neXtProtiNX_Q86US8
OpenTargetsiENSG00000070366
PharmGKBiPA25584
VEuPathDBiHostDB:ENSG00000070366.13

Human Unidentified Gene-Encoded large proteins database

More...HUGEi		Search...

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiKOG2162, Eukaryota
GeneTreeiENSGT00940000155300
HOGENOMiCLU_004735_0_0_1
InParanoidiQ86US8
OMAiCSPDVWQ
OrthoDBi556396at2759
PhylomeDBiQ86US8
TreeFamiTF327119

Enzyme and pathway databases

PathwayCommonsiQ86US8
ReactomeiR-HSA-975957, Nonsense Mediated Decay (NMD) enhanced by the Exon Junction Complex (EJC)

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

More...BioGRID-ORCSi		23293, 626 hits in 890 CRISPR screens

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

More...ChiTaRSi		SMG6, human
EvolutionaryTraceiQ86US8

The Gene Wiki collection of pages on human genes and proteins

More...GeneWikii		SMG6

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

More...GenomeRNAii		23293
PharosiQ86US8, Tbio

Protein Ontology

More...PROi		PR:Q86US8
RNActiQ86US8, protein

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000070366, Expressed in right ovary and 175 other tissues
ExpressionAtlasiQ86US8, baseline and differential
GenevisibleiQ86US8, HS

Family and domain databases

Gene3Di1.25.40.10, 1 hit
InterProiView protein in InterPro
IPR018834, DNA/RNA-bd_Est1-type
IPR019458, EST1
IPR029060, PIN-like_dom_sf
IPR002716, PIN_dom
IPR011990, TPR-like_helical_dom_sf
PfamiView protein in Pfam
PF10374, EST1, 1 hit
PF10373, EST1_DNA_bind, 1 hit
PF13638, PIN_4, 1 hit
SMARTiView protein in SMART
SM00670, PINc, 1 hit
SUPFAMiSSF48452, SSF48452, 1 hit
SSF88723, SSF88723, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

More...ProtoNeti		Search...

MobiDB: a database of protein disorder and mobility annotations

More...MobiDBi		Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the 'Entry information' section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiEST1A_HUMAN
<p>This subsection of the 'Entry information' section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called 'Primary (citable) accession number'.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: Q86US8
Secondary accession number(s): B7Z874
, O94837, Q86VH6, Q9UF60
<p>This subsection of the 'Entry information' section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification ('Last modified'). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: May 24, 2004
Last sequence update: March 7, 2006
Last modified: February 10, 2021
This is version 172 of the entry and version 2 of the sequence. See complete history.
<p>This subsection of the 'Entry information' section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>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.

<p>This section contains any relevant information that doesn't fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

3D-structure, Reference proteome

Documents

  1. Human chromosome 17
    Human chromosome 17: entries, gene names and cross-references to MIM
  2. Human entries with genetic variants
    List of human entries with genetic variants
  3. Human variants curated from literature reports
    Index of human variants curated from literature reports
  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
UniProt is an ELIXIR core data resource
Main funding by: National Institutes of Health

We'd like to inform you that we have updated our Privacy Notice to comply with Europe’s new General Data Protection Regulation (GDPR) that applies since 25 May 2018.

Do not show this banner again