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

    Gene ID: 23293, updated on 28-Oct-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
    mouse all
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    Genomic context

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    See SMG6 in Genome Data Viewer
    Location:
    17p13.3
    Exon count:
    32
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (2059839..2303785, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (1947114..2190866, complement)
    RS_2024_09 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 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. Crystal structure of the PIN domain of human telomerase-associated protein EST1A. Takeshita D, et al. Proteins, 2007 Sep 1. PMID 17557331
    2. 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
    3. 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
    4. 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
    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 (78) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Mechanism of circRNA_SMG6 mediating lung macrophage ECM degradation via miR-570-3p in microplastics-induced emphysema.
      Title: Mechanism of circRNA_SMG6 mediating lung macrophage ECM degradation via miR-570-3p in microplastics-induced emphysema.
    2. UPF1 helicase orchestrates mutually exclusive interactions with the SMG6 endonuclease and UPF2.
      Title: UPF1 helicase orchestrates mutually exclusive interactions with the SMG6 endonuclease and UPF2.
    3. 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.
    4. 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.
    5. 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.
    6. 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.
    7. 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.
    8. 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.
    9. 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.
    10. 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.
    Submit: New GeneRIF Correction See all GeneRIFs (20)

    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 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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    NEW Try the new Transcript table

    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_2024_08

    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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