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    SMG7 SMG7 nonsense mediated mRNA decay factor [ Homo sapiens (human) ]

    Gene ID: 9887, updated on 2-Nov-2024

    Summary

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    Official Symbol
    SMG7provided by HGNC
    Official Full Name
    SMG7 nonsense mediated mRNA decay factorprovided by HGNC
    Primary source
    HGNC:HGNC:16792
    See related
    Ensembl:ENSG00000116698 MIM:610964; AllianceGenome:HGNC:16792
    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
    EST1C; SGA56M; C1orf16
    Summary
    This gene encodes a protein that is essential for nonsense-mediated mRNA decay (NMD); a process whereby transcripts with premature termination codons are targeted for rapid degradation by a mRNA decay complex. The mRNA decay complex consists, in part, of this protein along with proteins SMG5 and UPF1. The N-terminal domain of this protein is thought to mediate its association with SMG5 or UPF1 while the C-terminal domain interacts with the mRNA decay complex. This protein may therefore couple changes in UPF1 phosphorylation state to the degradation of NMD-candidate transcripts. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Aug 2011]
    Expression
    Ubiquitous expression in testis (RPKM 30.4), bone marrow (RPKM 12.9) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See SMG7 in Genome Data Viewer
    Location:
    1q25.3
    Exon count:
    29
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (183472499..183554191)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (182831784..182913482)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (183441634..183523326)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:183247773-183248584 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:183248585-183249395 Neighboring gene nicotinamide nucleotide adenylyltransferase 2 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1629 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2213 Neighboring gene RPS3A pseudogene 8 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:183271685-183272658 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:183272659-183273632 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:183300194-183300759 Neighboring gene Sharpr-MPRA regulatory region 8277 Neighboring gene uncharacterized LOC105371646 Neighboring gene MPRA-validated peak501 silencer Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1630 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:183440685-183441316 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1631 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2214 Neighboring gene SMG7 antisense RNA 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1632 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2215 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:183540266-183540431 Neighboring gene chromosome 18 open reading frame 32 pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2216 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2217 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2218 Neighboring gene neutrophil cytosolic factor 2 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:183568525-183569024 Neighboring gene Sharpr-MPRA regulatory region 11944 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2219 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2220 Neighboring gene NCF2-ARPC5 intergenic ENCODE-defined enhancer Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:183604114-183604614 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2221 Neighboring gene actin related protein 2/3 complex subunit 5

    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. Frameshift Mutations of SMG7 Essential for Nonsense-Mediated mRNA Decay in Gastric and Colorectal Cancers. Jo YS, et al. Pathol Oncol Res, 2017 Jan. PMID 27771886
    2. SNPs at SMG7 Associated with Time from Biochemical Recurrence to Prostate Cancer Death. Song X, et al. Cancer Epidemiol Biomarkers Prev, 2022 Jul 1. PMID 35511739, Free PMC Article
    3. SMG5-SMG7 authorize nonsense-mediated mRNA decay by enabling SMG6 endonucleolytic activity. Boehm V, et al. Nat Commun, 2021 Jun 25. PMID 34172724, Free PMC Article
    4. Transcript-specific characteristics determine the contribution of endo- and exonucleolytic decay pathways during the degradation of nonsense-mediated decay substrates. Ottens F, et al. RNA, 2017 Aug. PMID 28461625, Free PMC Article
    5. Transcriptome-wide identification of NMD-targeted human mRNAs reveals extensive redundancy between SMG6- and SMG7-mediated degradation pathways. Colombo M, et al. RNA, 2017 Feb. PMID 27864472, Free PMC Article

    See all (86) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. SNPs at SMG7 Associated with Time from Biochemical Recurrence to Prostate Cancer Death.
      Title: SNPs at SMG7 Associated with Time from Biochemical Recurrence to Prostate Cancer Death.
    2. Critical role of SMG7 in activation of the ATR-CHK1 axis in response to genotoxic stress.
      Title: Critical role of SMG7 in activation of the ATR-CHK1 axis in response to genotoxic stress.
    3. Nonsense-mediated decay factor SMG7 sensitizes cells to TNFalpha-induced apoptosis via CYLD tumor suppressor and the noncoding oncogene Pvt1.
      Title: Nonsense-mediated decay factor SMG7 sensitizes cells to TNFα-induced apoptosis via CYLD tumor suppressor and the noncoding oncogene Pvt1.
    4. SMG5-SMG7 authorize nonsense-mediated mRNA decay by enabling SMG6 endonucleolytic activity.
      Title: SMG5-SMG7 authorize nonsense-mediated mRNA decay by enabling SMG6 endonucleolytic activity.
    5. Characterization of SMG7 14-3-3-like domain reveals phosphoserine binding-independent regulation of p53 and UPF1.
      Title: Characterization of SMG7 14-3-3-like domain reveals phosphoserine binding-independent regulation of p53 and UPF1.
    6. in gastric and colorectal cancers, study found SMG7 somatic mutations, which consisted of frameshift mutations by a deletion (c.2454delA (p. Met849fsx1) and a duplication (c.2545dupA (p. Met849Asnfsx10)) within the repeat
      Title: Frameshift Mutations of SMG7 Essential for Nonsense-Mediated mRNA Decay in Gastric and Colorectal Cancers.
    7. 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.
    8. 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.
    9. We showed SMG7 mRNA levels in peripheral blood mononuclear cells correlated inversely with antinuclear antibody titres of patients with systemic lupus erythematosus. The inverse relationship between levels of the risk allele-associated SMG7 mRNAs and antinuclear antibody suggested the novel contribution of mRNA surveillance pathway to systemic lupus erythematosus pathogenesis.
      Title: Decreased SMG7 expression associates with lupus-risk variants and elevated antinuclear antibody production.
    10. Depletion of nonsense-mediated mRNA decay pathway components Upf1, Smg5, and Smg7 led to increased levels of viral proteins and and virus release.
      Title: The host nonsense-mediated mRNA decay pathway restricts Mammalian RNA virus replication.
    Submit: New GeneRIF Correction See all GeneRIFs (13)

    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

    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

    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

    • FLJ23717, KIAA0250

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables protein phosphatase 2A binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables telomerase RNA binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    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 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 TAS
    Traceable Author Statement
    more info
    		 PubMed 
    involved_in regulation of dephosphorylation TAS
    Traceable Author Statement
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
    		  
    located_in cytosol TAS
    Traceable Author Statement
    more info
    		  
    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
    		  

    General protein information

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    Preferred Names
    nonsense-mediated mRNA decay factor SMG7
    Names
    EST1 telomerase component homolog C
    EST1-like protein C
    breast cancer-associated antigen SGA-56M
    ever shorter telomeres 1C
    smg-7 homolog, nonsense mediated mRNA decay factor
    NP_001167532.1
    NP_001317936.1
    NP_001337148.1
    NP_001337149.1
    NP_001337150.1
    NP_001362513.1
    NP_001362514.1
    NP_001381062.1
    NP_001381063.1
    NP_001381064.1
    NP_001381065.1
    NP_001381066.1
    NP_001381067.1
    NP_001381068.1
    NP_001381069.1
    NP_001381070.1
    NP_001381071.1
    NP_001381072.1
    NP_001381073.1
    NP_001381074.1
    NP_001381075.1
    NP_001381076.1
    NP_775179.1
    NP_963862.1
    NP_963863.2
    XP_005245710.1
    XP_011508507.1
    XP_011508508.1
    XP_011508509.1
    XP_047291697.1
    XP_047291705.1
    XP_054195856.1
    XP_054195857.1
    XP_054195858.1
    XP_054195859.1
    XP_054195860.1
    XP_054195861.1

    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_029808.1 RefSeqGene

      Range
      5129..86821
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001174061.2 → NP_001167532.1  nonsense-mediated mRNA decay factor SMG7 isoform 5

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5) differs in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at a downstream start codon, compared to variant 1. This variant also contains an alternate in-frame exon in the 3' coding region, compared to variant 1. The encoded isoform (5) is shorter than isoform 1.
      Source sequence(s)
      AB085674, AK299178, CN479993, DB223038
      Consensus CDS
      CCDS53445.1
      UniProtKB/Swiss-Prot
      Q92540
      Related
      ENSP00000426915.1, ENST00000508461.5
      Conserved Domains (3) summary
      sd00006
      Location:112 → 138
      TPR; TPR repeat [structural motif]
      pfam10373
      Location:129 → 389
      EST1_DNA_bind; Est1 DNA/RNA binding domain
      pfam10374
      Location:13 → 125
      EST1; Telomerase activating protein Est1

    2. NM_001331007.2 → NP_001317936.1  nonsense-mediated mRNA decay factor SMG7 isoform 6

      Status: REVIEWED

      Description
      Transcript Variant: This variant (6) differs in the 5' UTR and coding sequence, uses an alternate in-frame splice junction, and contains an alternate in-frame exon compared to variant 1. The resulting isoform (6) has a longer and distinct N-terminus, contains an alternate internal segment, and lacks another alternate internal segment compared to isoform 1. Variants 6 and 9 encode the same protein (isoform 6).
      Source sequence(s)
      AL137800, AL449223
      Consensus CDS
      CCDS81410.1
      UniProtKB/TrEMBL
      E9PD50
      Related
      ENSP00000356507.3, ENST00000367537.7
      Conserved Domains (3) summary
      sd00006
      Location:183 → 209
      TPR; TPR repeat [structural motif]
      pfam10373
      Location:200 → 460
      EST1_DNA_bind; Est1 DNA/RNA binding domain
      pfam10374
      Location:84 → 196
      EST1; Telomerase activating protein Est1

    3. NM_001350219.2 → NP_001337148.1  nonsense-mediated mRNA decay factor SMG7 isoform 7

      Status: REVIEWED

      Source sequence(s)
      AB085674, AL137800, CN479993, D87437, DB223038, DC341780
      Conserved Domains (4) summary
      PHA03247
      Location:581 → 883
      PHA03247; large tegument protein UL36; Provisional
      sd00006
      Location:183 → 209
      TPR; TPR repeat [structural motif]
      pfam10373
      Location:200 → 460
      EST1_DNA_bind; Est1 DNA/RNA binding domain
      pfam10374
      Location:84 → 196
      EST1; Telomerase activating protein Est1

    4. NM_001350220.2 → NP_001337149.1  nonsense-mediated mRNA decay factor SMG7 isoform 8

      Status: REVIEWED

      Source sequence(s)
      AB085674, AL137800, CN479993, CR995963, D87437, DA057117, DA238539, DB223038, DC341780
      Consensus CDS
      CCDS91124.1
      UniProtKB/TrEMBL
      A0A8I5KSL3
      Related
      ENSP00000508915.1, ENST00000685780.1
      Conserved Domains (3) summary
      sd00006
      Location:183 → 209
      TPR; TPR repeat [structural motif]
      pfam10373
      Location:200 → 460
      EST1_DNA_bind; Est1 DNA/RNA binding domain
      pfam10374
      Location:84 → 196
      EST1; Telomerase activating protein Est1

    5. NM_001350221.2 → NP_001337150.1  nonsense-mediated mRNA decay factor SMG7 isoform 6

      Status: REVIEWED

      Source sequence(s)
      AB085674, AL137800, CN479993, D87437, DA096344, DB223038, DC341780
      Consensus CDS
      CCDS81410.1
      UniProtKB/TrEMBL
      E9PD50
      Conserved Domains (3) summary
      sd00006
      Location:183 → 209
      TPR; TPR repeat [structural motif]
      pfam10373
      Location:200 → 460
      EST1_DNA_bind; Est1 DNA/RNA binding domain
      pfam10374
      Location:84 → 196
      EST1; Telomerase activating protein Est1

    6. NM_001375584.1 → NP_001362513.1  nonsense-mediated mRNA decay factor SMG7 isoform 10

      Status: REVIEWED

      Source sequence(s)
      AL137800, AL449223
      Consensus CDS
      CCDS91123.1
      UniProtKB/TrEMBL
      A0A8I5KYV3
      Related
      ENSP00000510175.1, ENST00000688051.1
      Conserved Domains (3) summary
      sd00006
      Location:154 → 180
      TPR; TPR repeat [structural motif]
      pfam10373
      Location:171 → 431
      EST1_DNA_bind; Est1 DNA/RNA binding domain
      pfam10374
      Location:55 → 167
      EST1; Telomerase activating protein Est1

    7. NM_001375585.1 → NP_001362514.1  nonsense-mediated mRNA decay factor SMG7 isoform 11

      Status: REVIEWED

      Source sequence(s)
      AL137800, AL449223
      Conserved Domains (3) summary
      sd00006
      Location:154 → 180
      TPR; TPR repeat [structural motif]
      pfam10373
      Location:171 → 431
      EST1_DNA_bind; Est1 DNA/RNA binding domain
      pfam10374
      Location:55 → 167
      EST1; Telomerase activating protein Est1

    8. NM_001394133.1 → NP_001381062.1  nonsense-mediated mRNA decay factor SMG7 isoform 8

      Status: REVIEWED

      Source sequence(s)
      AL137800, AL449223
      Consensus CDS
      CCDS91124.1
      UniProtKB/TrEMBL
      A0A8I5KSL3
      Conserved Domains (3) summary
      sd00006
      Location:183 → 209
      TPR; TPR repeat [structural motif]
      pfam10373
      Location:200 → 460
      EST1_DNA_bind; Est1 DNA/RNA binding domain
      pfam10374
      Location:84 → 196
      EST1; Telomerase activating protein Est1

    9. NM_001394134.1 → NP_001381063.1  nonsense-mediated mRNA decay factor SMG7 isoform 12

      Status: REVIEWED

      Source sequence(s)
      AL137800, AL449223
      Conserved Domains (3) summary
      sd00006
      Location:183 → 209
      TPR; TPR repeat [structural motif]
      pfam10373
      Location:200 → 460
      EST1_DNA_bind; Est1 DNA/RNA binding domain
      pfam10374
      Location:84 → 196
      EST1; Telomerase activating protein Est1

    10. NM_001394135.1 → NP_001381064.1  nonsense-mediated mRNA decay factor SMG7 isoform 12

      Status: REVIEWED

      Source sequence(s)
      AL137800, AL449223
      Conserved Domains (3) summary
      sd00006
      Location:183 → 209
      TPR; TPR repeat [structural motif]
      pfam10373
      Location:200 → 460
      EST1_DNA_bind; Est1 DNA/RNA binding domain
      pfam10374
      Location:84 → 196
      EST1; Telomerase activating protein Est1

    11. NM_001394136.1 → NP_001381065.1  nonsense-mediated mRNA decay factor SMG7 isoform 12

      Status: REVIEWED

      Source sequence(s)
      AL137800, AL449223
      Conserved Domains (3) summary
      sd00006
      Location:183 → 209
      TPR; TPR repeat [structural motif]
      pfam10373
      Location:200 → 460
      EST1_DNA_bind; Est1 DNA/RNA binding domain
      pfam10374
      Location:84 → 196
      EST1; Telomerase activating protein Est1

    12. NM_001394137.1 → NP_001381066.1  nonsense-mediated mRNA decay factor SMG7 isoform 5

      Status: REVIEWED

      Source sequence(s)
      AL137800, AL449223
      Consensus CDS
      CCDS53445.1
      Conserved Domains (3) summary
      sd00006
      Location:112 → 138
      TPR; TPR repeat [structural motif]
      pfam10373
      Location:129 → 389
      EST1_DNA_bind; Est1 DNA/RNA binding domain
      pfam10374
      Location:13 → 125
      EST1; Telomerase activating protein Est1

    13. NM_001394138.1 → NP_001381067.1  nonsense-mediated mRNA decay factor SMG7 isoform 7

      Status: REVIEWED

      Source sequence(s)
      AL137800, AL449223
      Conserved Domains (4) summary
      PHA03247
      Location:581 → 883
      PHA03247; large tegument protein UL36; Provisional
      sd00006
      Location:183 → 209
      TPR; TPR repeat [structural motif]
      pfam10373
      Location:200 → 460
      EST1_DNA_bind; Est1 DNA/RNA binding domain
      pfam10374
      Location:84 → 196
      EST1; Telomerase activating protein Est1

    14. NM_001394139.1 → NP_001381068.1  nonsense-mediated mRNA decay factor SMG7 isoform 7

      Status: REVIEWED

      Source sequence(s)
      AL137800, AL449223
      Conserved Domains (4) summary
      PHA03247
      Location:581 → 883
      PHA03247; large tegument protein UL36; Provisional
      sd00006
      Location:183 → 209
      TPR; TPR repeat [structural motif]
      pfam10373
      Location:200 → 460
      EST1_DNA_bind; Est1 DNA/RNA binding domain
      pfam10374
      Location:84 → 196
      EST1; Telomerase activating protein Est1

    15. NM_001394140.1 → NP_001381069.1  nonsense-mediated mRNA decay factor SMG7 isoform 13

      Status: REVIEWED

      Source sequence(s)
      AL137800, AL449223
      Conserved Domains (1) summary
      sd00006
      Location:136 → 162
      TPR; TPR repeat [structural motif]

    16. NM_001394141.1 → NP_001381070.1  nonsense-mediated mRNA decay factor SMG7 isoform 14

      Status: REVIEWED

      Source sequence(s)
      AL137800, AL449223
      Conserved Domains (3) summary
      sd00006
      Location:112 → 138
      TPR; TPR repeat [structural motif]
      pfam10373
      Location:129 → 389
      EST1_DNA_bind; Est1 DNA/RNA binding domain
      pfam10374
      Location:13 → 125
      EST1; Telomerase activating protein Est1

    17. NM_001394142.1 → NP_001381071.1  nonsense-mediated mRNA decay factor SMG7 isoform 15

      Status: REVIEWED

      Source sequence(s)
      AL137800, AL449223
      Conserved Domains (1) summary
      sd00006
      Location:112 → 138
      TPR; TPR repeat [structural motif]

    18. NM_001394143.1 → NP_001381072.1  nonsense-mediated mRNA decay factor SMG7 isoform 15

      Status: REVIEWED

      Source sequence(s)
      AL137800, AL449223
      Conserved Domains (1) summary
      sd00006
      Location:112 → 138
      TPR; TPR repeat [structural motif]

    19. NM_001394144.1 → NP_001381073.1  nonsense-mediated mRNA decay factor SMG7 isoform 16

      Status: REVIEWED

      Source sequence(s)
      AL137800, AL449223
      Conserved Domains (1) summary
      sd00006
      Location:98 → 124
      TPR; TPR repeat [structural motif]

    20. NM_001394145.1 → NP_001381074.1  nonsense-mediated mRNA decay factor SMG7 isoform 17

      Status: REVIEWED

      Source sequence(s)
      AL137800, AL449223
      Conserved Domains (1) summary
      sd00006
      Location:136 → 162
      TPR; TPR repeat [structural motif]

    21. NM_001394146.1 → NP_001381075.1  nonsense-mediated mRNA decay factor SMG7 isoform 17

      Status: REVIEWED

      Source sequence(s)
      AL137800, AL449223
      Conserved Domains (1) summary
      sd00006
      Location:136 → 162
      TPR; TPR repeat [structural motif]

    22. NM_001394147.1 → NP_001381076.1  nonsense-mediated mRNA decay factor SMG7 isoform 18

      Status: REVIEWED

      Source sequence(s)
      AL137800, AL449223
      Conserved Domains (3) summary
      sd00006
      Location:112 → 138
      TPR; TPR repeat [structural motif]
      pfam10373
      Location:129 → 389
      EST1_DNA_bind; Est1 DNA/RNA binding domain
      pfam10374
      Location:13 → 125
      EST1; Telomerase activating protein Est1

    23. NM_173156.3 → NP_775179.1  nonsense-mediated mRNA decay factor SMG7 isoform 1

      See identical proteins and their annotated locations for NP_775179.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes isoform 1.
      Source sequence(s)
      AB085674, AY386363, CN479993, DB223038, DC380923
      Consensus CDS
      CCDS1355.1
      UniProtKB/Swiss-Prot
      B4DRB2, E9PCI0, E9PEH2, Q5T1Q0, Q6PIE0, Q7Z7H9, Q8IXC1, Q8IXC2, Q92540
      Related
      ENSP00000340766.2, ENST00000347615.6
      Conserved Domains (3) summary
      sd00006
      Location:154 → 180
      TPR; TPR repeat [structural motif]
      pfam10373
      Location:171 → 431
      EST1_DNA_bind; Est1 DNA/RNA binding domain
      pfam10374
      Location:55 → 167
      EST1; Telomerase activating protein Est1

    24. NM_201568.3 → NP_963862.1  nonsense-mediated mRNA decay factor SMG7 isoform 2

      See identical proteins and their annotated locations for NP_963862.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) uses an alternate in-frame splice site in the 3' coding region, compared to variant 1. This results in a shorter protein (isoform 2), compared to isoform 1.
      Source sequence(s)
      AB085674, CN479993, D87437, DB223038, DC380923
      Consensus CDS
      CCDS53444.1
      UniProtKB/Swiss-Prot
      Q92540
      Related
      ENSP00000421358.2, ENST00000515829.6
      Conserved Domains (3) summary
      sd00006
      Location:154 → 180
      TPR; TPR repeat [structural motif]
      pfam10373
      Location:171 → 431
      EST1_DNA_bind; Est1 DNA/RNA binding domain
      pfam10374
      Location:55 → 167
      EST1; Telomerase activating protein Est1

    25. NM_201569.3 → NP_963863.2  nonsense-mediated mRNA decay factor SMG7 isoform 4

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) has multiple differences in the coding region compared to variant 1, one of which results in a translational frameshift. The resulting protein (isoform 4) has a distinct C-terminus and is longer than isoform 1.
      Source sequence(s)
      AB085674, AK299178, AL137800, BC036381, CN479993, DB223038
      Consensus CDS
      CCDS41445.2
      UniProtKB/Swiss-Prot
      Q92540
      Related
      ENSP00000425133.1, ENST00000507469.5
      Conserved Domains (3) summary
      sd00006
      Location:154 → 180
      TPR; TPR repeat [structural motif]
      pfam10373
      Location:171 → 431
      EST1_DNA_bind; Est1 DNA/RNA binding domain
      pfam10374
      Location:55 → 167
      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_000001.11 Reference GRCh38.p14 Primary Assembly

      Range
      183472499..183554191
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011510205.4 → XP_011508507.1  nonsense-mediated mRNA decay factor SMG7 isoform X1

      See identical proteins and their annotated locations for XP_011508507.1

      UniProtKB/TrEMBL
      A0A8I5KSL3
      Conserved Domains (3) summary
      sd00006
      Location:183 → 209
      TPR; TPR repeat [structural motif]
      pfam10373
      Location:200 → 460
      EST1_DNA_bind; Est1 DNA/RNA binding domain
      pfam10374
      Location:84 → 196
      EST1; Telomerase activating protein Est1

    2. XM_011510206.4 → XP_011508508.1  nonsense-mediated mRNA decay factor SMG7 isoform X2

      See identical proteins and their annotated locations for XP_011508508.1

      UniProtKB/TrEMBL
      E9PD50
      Conserved Domains (3) summary
      sd00006
      Location:183 → 209
      TPR; TPR repeat [structural motif]
      pfam10373
      Location:200 → 460
      EST1_DNA_bind; Est1 DNA/RNA binding domain
      pfam10374
      Location:84 → 196
      EST1; Telomerase activating protein Est1

    3. XM_011510207.4 → XP_011508509.1  nonsense-mediated mRNA decay factor SMG7 isoform X3

      See identical proteins and their annotated locations for XP_011508509.1

      Conserved Domains (3) summary
      sd00006
      Location:136 → 162
      TPR; TPR repeat [structural motif]
      pfam10373
      Location:153 → 413
      EST1_DNA_bind; Est1 DNA/RNA binding domain
      pfam10374
      Location:37 → 149
      EST1; Telomerase activating protein Est1

    4. XM_047435741.1 → XP_047291697.1  nonsense-mediated mRNA decay factor SMG7 isoform X1

      UniProtKB/TrEMBL
      A0A8I5KSL3

    5. XM_005245653.6 → XP_005245710.1  nonsense-mediated mRNA decay factor SMG7 isoform X3

      See identical proteins and their annotated locations for XP_005245710.1

      Conserved Domains (3) summary
      sd00006
      Location:136 → 162
      TPR; TPR repeat [structural motif]
      pfam10373
      Location:153 → 413
      EST1_DNA_bind; Est1 DNA/RNA binding domain
      pfam10374
      Location:37 → 149
      EST1; Telomerase activating protein Est1

    6. XM_047435749.1 → XP_047291705.1  nonsense-mediated mRNA decay factor SMG7 isoform X4

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      182831784..182913482
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054339881.1 → XP_054195856.1  nonsense-mediated mRNA decay factor SMG7 isoform X1

      UniProtKB/TrEMBL
      A0A8I5KSL3

    2. XM_054339882.1 → XP_054195857.1  nonsense-mediated mRNA decay factor SMG7 isoform X2

      UniProtKB/TrEMBL
      E9PD50

    3. XM_054339884.1 → XP_054195859.1  nonsense-mediated mRNA decay factor SMG7 isoform X3

    4. XM_054339883.1 → XP_054195858.1  nonsense-mediated mRNA decay factor SMG7 isoform X3

    5. XM_054339885.1 → XP_054195860.1  nonsense-mediated mRNA decay factor SMG7 isoform X5

      UniProtKB/TrEMBL
      Q6TV06

    6. XM_054339886.1 → XP_054195861.1  nonsense-mediated mRNA decay factor SMG7 isoform X4

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_001350222.2: Suppressed sequence

      Description
      NM_001350222.2: This RefSeq was removed because currently there is support for the transcript but not for the protein.

    2. NM_014837.3: Suppressed sequence

      Description
      NM_014837.3: This RefSeq was permanently suppressed because it has a non-consensus splice site that does't have any mRNA support.
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q92540.2 GenPept UniProtKB/Swiss-Prot:Q92540

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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