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SMG6 SMG6 nonsense mediated mRNA decay factor [ Homo sapiens (human) ]

Gene ID: 23293, updated on 5-Mar-2024

Summary

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Official Symbol
SMG6provided by HGNC
Official Full Name
SMG6 nonsense mediated mRNA decay factorprovided by HGNC
Primary source
HGNC:HGNC:17809
See related
Ensembl:ENSG00000070366 MIM:610963; AllianceGenome:HGNC:17809
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
EST1A; SMG-6; hEST1A; C17orf31; hSMG5/7a
Summary
This gene encodes a component of the telomerase ribonucleoprotein complex responsible for the replication and maintenance of chromosome ends. The encoded protein also plays a role in the nonsense-mediated mRNA decay (NMD) pathway, providing the endonuclease activity near the premature translation termination codon that is needed to initiate NMD. Alternatively spliced transcript variants encoding distinct protein isoforms have been described. [provided by RefSeq, Feb 2014]
Expression
Ubiquitous expression in ovary (RPKM 7.3), testis (RPKM 5.9) and 25 other tissues See more
Orthologs
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Genomic context

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Location:
17p13.3
Exon count:
32
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (2059839..2303785, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (1947114..2190866, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (1963133..2207079, complement)

Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124903896 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7969 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7970 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:1954503-1955398 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7971 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7972 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7973 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7974 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7975 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7976 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7977 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7978 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7979 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7983 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:1961456-1961958 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7981 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7980 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7984 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7985 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11464 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:1968405-1969158 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11465 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11466 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr17:1974493-1975692 Neighboring gene uncharacterized LOC107984988 Neighboring gene microRNA 132 Neighboring gene microRNA 212 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:1978509-1979198 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:1979199-1979889 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11468 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11469 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:1987859-1988771 Neighboring gene HIC ZBTB transcriptional repressor 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11470 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11474 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11473 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11472 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11471 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11475 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11476 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11477 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7986 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11478 Neighboring gene MCUR1 pseudogene 1 Neighboring gene Sharpr-MPRA regulatory region 9675 Neighboring gene H3K27ac hESC enhancer GRCh37_chr17:2076187-2076923 Neighboring gene VISTA enhancer hs1445 Neighboring gene VISTA enhancer hs924 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr17:2097975-2098476 Neighboring gene RNA, 7SL, cytoplasmic 624, pseudogene Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr17:2116692-2117891 Neighboring gene heart enhancer 8 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7987 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11479 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:2122139-2123075 Neighboring gene uncharacterized LOC101927839 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11480 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11481 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11482 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11483 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11484 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11485 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11487 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11486 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11488 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11489 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:2205337-2206151 Neighboring gene H3K27ac hESC enhancer GRCh37_chr17:2206481-2207207 Neighboring gene heterogeneous nuclear ribonucleoprotein A1 pseudogene 16 Neighboring gene serine racemase Neighboring gene small nucleolar RNA, C/D box 91B Neighboring gene TSR1 ribosome maturation factor

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. Identification of SMG6 cleavage sites and a preferred RNA cleavage motif by global analysis of endogenous NMD targets in human cells. Schmidt SA, et al. Nucleic Acids Res, 2015 Jan. PMID 25429978, Free PMC Article
  2. Crystal structure of the PIN domain of human telomerase-associated protein EST1A. Takeshita D, et al. Proteins, 2007 Sep 1. PMID 17557331
  3. Crystallization and preliminary X-ray analysis of the PIN domain of human EST1A. Takeshita D, et al. Acta Crystallogr Sect F Struct Biol Cryst Commun, 2006 Jul 1. PMID 16820686, Free PMC Article
  4. Physical and transcriptional mapping of the 17p13.3 region that is frequently deleted in human cancer. Hoff C, et al. Genomics, 2000 Nov 15. PMID 11087658
  5. CFTR mRNAs with nonsense codons are degraded by the SMG6-mediated endonucleolytic decay pathway. Sanderlin EJ, et al. Nat Commun, 2022 Apr 29. PMID 35487895, Free PMC Article

See all (72) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. CFTR mRNAs with nonsense codons are degraded by the SMG6-mediated endonucleolytic decay pathway.
    Title: CFTR mRNAs with nonsense codons are degraded by the SMG6-mediated endonucleolytic decay pathway.
  2. Readthrough of stop codons under limiting ABCE1 concentration involves frameshifting and inhibits nonsense-mediated mRNA decay.
    Title: Readthrough of stop codons under limiting ABCE1 concentration involves frameshifting and inhibits nonsense-mediated mRNA decay.
  3. SRR intronic variation inhibits expression of its neighboring SMG6 gene and protects against temporal lobe epilepsy.
    Title: SRR intronic variation inhibits expression of its neighbouring SMG6 gene and protects against temporal lobe epilepsy.
  4. Nonsense-mediated mRNA decay (NMD) substrates with PTCs undergo constitutive SMG6-dependent endocleavage, rather than SMG7-dependent exonucleolytic decay. In contrast, the turnover of NMD substrates containing upstream ORFs and long 3' UTRs involves both SMG6- and SMG7-dependent endo- and exonucleolytic decay, respectively; extent to which SMG6 and SMG7 degrade NMD substrates is determined by the mRNA architecture.
    Title: Transcript-specific characteristics determine the contribution of endo- and exonucleolytic decay pathways during the degradation of nonsense-mediated decay substrates.
  5. Transcriptome-wide identification of nonsense-mediated mRNA decay-targeted human mRNAs reveals extensive redundancy between SMG6- and SMG7-mediated degradation pathways.
    Title: Transcriptome-wide identification of NMD-targeted human mRNAs reveals extensive redundancy between SMG6- and SMG7-mediated degradation pathways.
  6. A preferred sequence motif spanning most SMG6 cleavage sites has been discovered by analysis of endogenous non-sense-mediated mRNA decay targets.
    Title: Identification of SMG6 cleavage sites and a preferred RNA cleavage motif by global analysis of endogenous NMD targets in human cells.
  7. SMG6 requires UPF1 and SMG1 for nonsense-mediated mRNA decay.
    Title: A novel phosphorylation-independent interaction between SMG6 and UPF1 is essential for human NMD.
  8. The study demonstrates that SMG5-SMG7 and SMG6 exhibit different and non-overlapping modes of UPF1 recognition, thus pointing at distinguished roles in integrating the complex nonsense-mediated mRNA decay interaction network.
    Title: Phospho-dependent and phospho-independent interactions of the helicase UPF1 with the NMD factors SMG5-SMG7 and SMG6.
  9. Consistent with involvement of SMG6 in the decay process full-length nonsense-containing beta-globin mRNA was increased and the Delta169 decay intermediate was decreased in cells knocked down for SMG6.
    Title: SMG6 cleavage generates metastable decay intermediates from nonsense-containing β-globin mRNA.
  10. The tricotetrapeptide repeat-containing domain within Est1A was sufficient for interaction with hTERT.
    Title: The TPR-containing domain within Est1 homologs exhibits species-specific roles in telomerase interaction and telomere length homeostasis.
Submit: New GeneRIF Correction See all GeneRIFs (18)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
Biological insights from 108 schizophrenia-associated genetic loci.
EBI GWAS Catalog
Genetic variants associated with cardiac structure and function: a meta-analysis and replication of genome-wide association data.
EBI GWAS Catalog
Genome-wide association analyses of esophageal squamous cell carcinoma in Chinese identify multiple susceptibility loci and gene-environment interactions.
EBI GWAS Catalog
Genome-wide association analysis identifies 13 new risk loci for schizophrenia.
EBI GWAS Catalog
Genome-wide association study of monoamine metabolite levels in human cerebrospinal fluid.
EBI GWAS Catalog
Genome-wide meta-analysis identifies 56 bone mineral density loci and reveals 14 loci associated with risk of fracture.
EBI GWAS Catalog
Large-scale association analysis identifies 13 new susceptibility loci for coronary artery disease.
EBI GWAS Catalog
Shared genetic susceptibility to ischemic stroke and coronary artery disease: a genome-wide analysis of common variants.
EBI GWAS Catalog

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

HIV-1 interactions

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Protein interactions

Protein Gene Interaction Pubs
retropepsin gag-pol HIV-1 PR is identified to have a physical interaction with smg-6 homolog, nonsense mediated mRNA decay factor (SMG6; EST1A) in human HEK293 and/or Jurkat cell lines by using affinity tagging and purification mass spectrometry analyses PubMed

Go to the HIV-1, Human Interaction Database

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • FLJ35688, KIAA0732

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables DNA polymerase binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables RNA binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables RNA endonuclease activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables RNA endonuclease activity IMP
Inferred from Mutant Phenotype
more info
 PubMed 
enables RNA endonuclease activity TAS
Traceable Author Statement
more info
  
enables metal ion binding IEA
Inferred from Electronic Annotation
more info
  
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables ribonucleoprotein complex binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables telomerase RNA binding IBA
Inferred from Biological aspect of Ancestor
more info
  
enables telomerase RNA binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables telomeric DNA binding IBA
Inferred from Biological aspect of Ancestor
more info
  
enables telomeric DNA binding IDA
Inferred from Direct Assay
more info
 PubMed 
Process Evidence Code Pubs
involved_in mRNA export from nucleus TAS
Traceable Author Statement
more info
 PubMed 
involved_in negative regulation of telomere capping IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in nuclear-transcribed mRNA catabolic process, nonsense-mediated decay IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in nuclear-transcribed mRNA catabolic process, nonsense-mediated decay IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in nuclear-transcribed mRNA catabolic process, nonsense-mediated decay TAS
Traceable Author Statement
more info
 PubMed 
involved_in regulation of dephosphorylation TAS
Traceable Author Statement
more info
 PubMed 
involved_in regulation of telomerase activity IC
Inferred by Curator
more info
 PubMed 
involved_in regulation of telomere maintenance IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in regulation of telomere maintenance via telomerase IC
Inferred by Curator
more info
 PubMed 
involved_in regulation of telomere maintenance via telomerase TAS
Traceable Author Statement
more info
 PubMed 
Component Evidence Code Pubs
located_in chromosome, telomeric region IEA
Inferred from Electronic Annotation
more info
  
located_in cytoplasm IDA
Inferred from Direct Assay
more info
 PubMed 
located_in cytosol IDA
Inferred from Direct Assay
more info
 PubMed 
located_in cytosol TAS
Traceable Author Statement
more info
  
part_of exon-exon junction complex IDA
Inferred from Direct Assay
more info
 PubMed 
located_in nucleolus IDA
Inferred from Direct Assay
more info
 PubMed 
located_in nucleus IDA
Inferred from Direct Assay
more info
 PubMed 
part_of telomerase holoenzyme complex IBA
Inferred from Biological aspect of Ancestor
more info
  
part_of telomerase holoenzyme complex TAS
Traceable Author Statement
more info
 PubMed 

General protein information

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Preferred Names
telomerase-binding protein EST1A
Names
EST1 telomerase component homolog A
ever shorter telomeres 1A
nonsense mediated mRNA decay factor SMG6
smg-6 homolog, nonsense mediated mRNA decay factor
telomerase subunit EST1A
NP_001243756.1
NP_001243757.1
NP_001269255.1
NP_060045.4
XP_005256626.1
XP_005256627.1
XP_005256628.1
XP_011522071.1
XP_011522074.1
XP_011522076.1
XP_011522077.1
XP_016879887.1
XP_016879888.1
XP_047291652.1
XP_047291653.1
XP_047291654.1
XP_047291655.1
XP_047291656.1
XP_054171582.1
XP_054171583.1
XP_054171584.1
XP_054171585.1
XP_054171586.1
XP_054171587.1
XP_054171588.1
XP_054171589.1
XP_054171590.1
XP_054171591.1
XP_054171592.1
XP_054171593.1
XP_054171594.1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_033980.1 RefSeqGene

    Range
    4991..248933
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001256827.2 → NP_001243756.1  telomerase-binding protein EST1A isoform 3

    See identical proteins and their annotated locations for NP_001243756.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) uses an alternate internal promoter and thus differs in the 5' UTR and 5' coding region compared to variant 1. These differences cause translation initiation at a downstream AUG, and the resulting isoform (3) has a shorter N-terminus compared to isoform 1. Variants 3 and 4 encode the same protein (isoform 3).
    Source sequence(s)
    AC090617, AL450226, BC064916
    Consensus CDS
    CCDS58498.1
    UniProtKB/Swiss-Prot
    Q86US8
    Related
    ENSP00000346977.4, ENST00000354901.8
    Conserved Domains (2) summary
    cd09885
    Location:333 → 508
    PIN_Smg6; PIN domain of human telomerase-binding protein EST1, Smg6, and other similar eukaryotic homologs
    pfam10373
    Location:4 → 195
    EST1_DNA_bind; Est1 DNA/RNA binding domain

  2. NM_001256828.1 → NP_001243757.1  telomerase-binding protein EST1A isoform 3

    See identical proteins and their annotated locations for NP_001243757.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) uses an alternate internal promoter and thus differs in the 5' UTR and 5' coding region compared to variant 1. These differences cause translation initiation at a downstream AUG, and the resulting isoform (3) has a shorter N-terminus compared to isoform 1. Variants 3 and 4 encode the same protein (isoform 3).
    Source sequence(s)
    AC090617, AK302964, AL450226
    Consensus CDS
    CCDS58498.1
    UniProtKB/Swiss-Prot
    Q86US8
    Related
    ENSP00000440283.2, ENST00000536871.6
    Conserved Domains (2) summary
    cd09885
    Location:333 → 508
    PIN_Smg6; PIN domain of human telomerase-binding protein EST1, Smg6, and other similar eukaryotic homologs
    pfam10373
    Location:4 → 195
    EST1_DNA_bind; Est1 DNA/RNA binding domain

  3. NM_001282326.2 → NP_001269255.1  telomerase-binding protein EST1A isoform 4

    See identical proteins and their annotated locations for NP_001269255.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5) uses an alternate internal promoter and thus differs in the 5' UTR and 5' coding region compared to variant 1. These differences cause translation initiation at an alternate AUG, and the resulting isoform (4) has a shorter and distinct N-terminus compared to isoform 1.
    Source sequence(s)
    AC090617, AL133597, DB333407
    UniProtKB/Swiss-Prot
    Q86US8
    Related
    ENST00000573166.5
    Conserved Domains (1) summary
    cd09885
    Location:152 → 327
    PIN_Smg6; PIN domain of human telomerase-binding protein EST1, Smg6, and other similar eukaryotic homologs

  4. NM_017575.5 → NP_060045.4  telomerase-binding protein EST1A isoform 1

    See identical proteins and their annotated locations for NP_060045.4

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
    Source sequence(s)
    AB018275, AC090617, AL450226, AY168921
    Consensus CDS
    CCDS11016.1
    UniProtKB/Swiss-Prot
    B7Z874, O94837, Q86US8, Q86VH6, Q9UF60
    Related
    ENSP00000263073.5, ENST00000263073.11
    Conserved Domains (4) summary
    cd09885
    Location:1241 → 1416
    PIN_Smg6; PIN domain of human telomerase-binding protein EST1, Smg6, and other similar eukaryotic homologs
    sd00006
    Location:765 → 795
    TPR; TPR repeat [structural motif]
    pfam10373
    Location:751 → 1103
    EST1_DNA_bind; Est1 DNA/RNA binding domain
    pfam10374
    Location:638 → 741
    EST1; Telomerase activating protein Est1

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000017.11 Reference GRCh38.p14 Primary Assembly

    Range
    2059839..2303785 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011523769.3 → XP_011522071.1  telomerase-binding protein EST1A isoform X1

    See identical proteins and their annotated locations for XP_011522071.1

    UniProtKB/Swiss-Prot
    Q86US8
    Conserved Domains (4) summary
    cd09885
    Location:1210 → 1385
    PIN_Smg6; PIN domain of human telomerase-binding protein EST1, Smg6, and other similar eukaryotic homologs
    pfam10373
    Location:720 → 1072
    EST1_DNA_bind; Est1 DNA/RNA binding domain
    pfam10374
    Location:607 → 710
    EST1; Telomerase activating protein Est1
    cl28310
    Location:116 → 307
    Rho; Transcription termination factor Rho [Transcription]

  2. XM_047435696.1 → XP_047291652.1  telomerase-binding protein EST1A isoform X1

  3. XM_005256569.5 → XP_005256626.1  telomerase-binding protein EST1A isoform X1

    See identical proteins and their annotated locations for XP_005256626.1

    UniProtKB/Swiss-Prot
    Q86US8
    Conserved Domains (4) summary
    cd09885
    Location:1210 → 1385
    PIN_Smg6; PIN domain of human telomerase-binding protein EST1, Smg6, and other similar eukaryotic homologs
    pfam10373
    Location:720 → 1072
    EST1_DNA_bind; Est1 DNA/RNA binding domain
    pfam10374
    Location:607 → 710
    EST1; Telomerase activating protein Est1
    cl28310
    Location:116 → 307
    Rho; Transcription termination factor Rho [Transcription]

  4. XM_011523775.3 → XP_011522077.1  telomerase-binding protein EST1A isoform X8

    See identical proteins and their annotated locations for XP_011522077.1

    UniProtKB/Swiss-Prot
    Q86US8
    Conserved Domains (2) summary
    cd09885
    Location:333 → 508
    PIN_Smg6; PIN domain of human telomerase-binding protein EST1, Smg6, and other similar eukaryotic homologs
    pfam10373
    Location:4 → 195
    EST1_DNA_bind; Est1 DNA/RNA binding domain

  5. XM_017024399.3 → XP_016879888.1  telomerase-binding protein EST1A isoform X8

    UniProtKB/Swiss-Prot
    Q86US8
    Conserved Domains (2) summary
    cd09885
    Location:333 → 508
    PIN_Smg6; PIN domain of human telomerase-binding protein EST1, Smg6, and other similar eukaryotic homologs
    pfam10373
    Location:4 → 195
    EST1_DNA_bind; Est1 DNA/RNA binding domain

  6. XM_047435699.1 → XP_047291655.1  telomerase-binding protein EST1A isoform X8

  7. XM_005256571.6 → XP_005256628.1  telomerase-binding protein EST1A isoform X8

    See identical proteins and their annotated locations for XP_005256628.1

    UniProtKB/Swiss-Prot
    Q86US8
    Conserved Domains (2) summary
    cd09885
    Location:333 → 508
    PIN_Smg6; PIN domain of human telomerase-binding protein EST1, Smg6, and other similar eukaryotic homologs
    pfam10373
    Location:4 → 195
    EST1_DNA_bind; Est1 DNA/RNA binding domain

  8. XM_047435700.1 → XP_047291656.1  telomerase-binding protein EST1A isoform X9

  9. XM_047435697.1 → XP_047291653.1  telomerase-binding protein EST1A isoform X2

  10. XM_011523772.3 → XP_011522074.1  telomerase-binding protein EST1A isoform X3

    Conserved Domains (3) summary
    sd00006
    Location:765 → 795
    TPR; TPR repeat [structural motif]
    pfam10373
    Location:751 → 957
    EST1_DNA_bind; Est1 DNA/RNA binding domain
    pfam10374
    Location:638 → 741
    EST1; Telomerase activating protein Est1

  11. XM_017024398.2 → XP_016879887.1  telomerase-binding protein EST1A isoform X4

  12. XM_047435698.1 → XP_047291654.1  telomerase-binding protein EST1A isoform X5

  13. XM_011523774.3 → XP_011522076.1  telomerase-binding protein EST1A isoform X7

    Conserved Domains (3) summary
    sd00006
    Location:765 → 795
    TPR; TPR repeat [structural motif]
    pfam10373
    Location:751 → 831
    EST1_DNA_bind; Est1 DNA/RNA binding domain
    pfam10374
    Location:638 → 741
    EST1; Telomerase activating protein Est1

  14. XM_005256570.4 → XP_005256627.1  telomerase-binding protein EST1A isoform X6

    Conserved Domains (3) summary
    sd00006
    Location:765 → 795
    TPR; TPR repeat [structural motif]
    pfam10373
    Location:751 → 831
    EST1_DNA_bind; Est1 DNA/RNA binding domain
    pfam10374
    Location:638 → 741
    EST1; Telomerase activating protein Est1

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060941.1 Alternate T2T-CHM13v2.0

    Range
    1947114..2190866 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054315609.1 → XP_054171584.1  telomerase-binding protein EST1A isoform X1

  2. XM_054315607.1 → XP_054171582.1  telomerase-binding protein EST1A isoform X1

  3. XM_054315608.1 → XP_054171583.1  telomerase-binding protein EST1A isoform X1

  4. XM_054315616.1 → XP_054171591.1  telomerase-binding protein EST1A isoform X8

  5. XM_054315617.1 → XP_054171592.1  telomerase-binding protein EST1A isoform X8

  6. XM_054315618.1 → XP_054171593.1  telomerase-binding protein EST1A isoform X8

  7. XM_054315619.1 → XP_054171594.1  telomerase-binding protein EST1A isoform X8

  8. XM_054315610.1 → XP_054171585.1  telomerase-binding protein EST1A isoform X2

  9. XM_054315611.1 → XP_054171586.1  telomerase-binding protein EST1A isoform X3

  10. XM_054315612.1 → XP_054171587.1  telomerase-binding protein EST1A isoform X4

  11. XM_054315613.1 → XP_054171588.1  telomerase-binding protein EST1A isoform X5

  12. XM_054315615.1 → XP_054171590.1  telomerase-binding protein EST1A isoform X7

  13. XM_054315614.1 → XP_054171589.1  telomerase-binding protein EST1A isoform X6

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_001170957.1: Suppressed sequence

    Description
    NM_001170957.1: This RefSeq was permanently suppressed because currently there is insufficient support for the full-length exon combination of the transcript.
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q86US8.2 GenPept UniProtKB/Swiss-Prot:Q86US8

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