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 w... See more...

Aliases for SMG7 Gene

Aliases for SMG7 Gene

  • SMG7 Nonsense Mediated MRNA Decay Factor 2 3 5
  • EST1-Like Protein C 3 4
  • Protein SMG7 3 4
  • C1orf16 3 4
  • EST1C 3 4
  • Smg-7 Homolog, Nonsense Mediated MRNA Decay Factor (C. Elegans) 2
  • EST1 Telomerase Component Homolog C (S. Cerevisiae) 2
  • Smg-7 Homolog, Nonsense Mediated MRNA Decay Factor 3
  • SMG7, Nonsense Mediated MRNA Decay Factor 2
  • Breast Cancer-Associated Antigen SGA-56M 3
  • EST1 Telomerase Component Homolog C 3
  • Chromosome 1 Open Reading Frame 16 2
  • Ever Shorter Telomeres 1C 3
  • SMG-7 Homolog 4
  • KIAA0250 4
  • SGA56M 3
  • HSMG-7 4

External Ids for SMG7 Gene

Previous HGNC Symbols for SMG7 Gene

  • C1orf16

Previous GeneCards Identifiers for SMG7 Gene

  • GC01P181708
  • GC01P154678

Summaries for SMG7 Gene

Entrez Gene Summary for SMG7 Gene

  • 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]

GeneCards Summary for SMG7 Gene

SMG7 (SMG7 Nonsense Mediated MRNA Decay Factor) is a Protein Coding gene. Diseases associated with SMG7 include Progressive Familial Heart Block, Type Ii and Pancreatic Adenosquamous Carcinoma. Among its related pathways are Gene Expression and mRNA surveillance pathway. Gene Ontology (GO) annotations related to this gene include protein phosphatase 2A binding. An important paralog of this gene is SMG5.

UniProtKB/Swiss-Prot Summary for SMG7 Gene

  • Plays a role in nonsense-mediated mRNA decay. Recruits UPF1 to cytoplasmic mRNA decay bodies. Together with SMG5 is thought to provide a link to the mRNA degradation machinery involving exonucleolytic pathways, and to serve as an adapter for UPF1 to protein phosphatase 2A (PP2A), thereby triggering UPF1 dephosphorylation.

Gene Wiki entry for SMG7 Gene

Additional gene information for SMG7 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for SMG7 Gene

Genomics for SMG7 Gene

GeneHancer (GH) Regulatory Elements for SMG7 Gene

Promoters and enhancers for SMG7 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH01J183469 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 520.8 -0.4 -362 4.3 RXRA HNRNPK FOXK2 ZBTB40 ZNF217 EP300 CTCF ZSCAN5C TCF12 SIN3A SMG7 SMG7-AS1 DHX9 LAMC1-AS1 HMGN1P4 LAMC1 RNASEL LAMC2 ENSG00000271387 NCF2
GH01J184036 Promoter/Enhancer 2.4 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 11 +564.7 564718 2.7 HNRNPK NRF1 POLR2G GTF2E2 CTCF ZIC2 REST ZBTB10 ZBTB11 ZNF423 COLGALT2 SMG7 TSEN15 RGL1 piR-45035-015
GH01J184385 Promoter/Enhancer 2.2 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas 10.2 +915.8 915813 4.7 EP300 ZSCAN5C JUND TEAD4 ZFX ZNF639 ZIC2 ZBTB10 POLR2A ZNF423 ENSG00000271387 C1orf21 SMG7-AS1 SWT1 ENSG00000273004 SMG7 EDEM3 piR-41306-017
GH01J183567 Enhancer 1.2 Ensembl ENCODE dbSUPER 14.2 +98.7 98685 8.6 REST TOE1 RUNX1 CTBP1 TAF9B NCOR1 ESRRA WT1 NFIC ZBTB17 SMG7 lnc-ARPC5-2 LOC100526839 NCF2
GH01J183416 Promoter/Enhancer 1.6 EPDnew Ensembl ENCODE 10.4 -54.5 -54503 1.8 EP300 MYC USF1 ZNF639 CTCF REST ZBTB10 GABPA ZBTB26 SAP30 NMNAT2 SMG7 piR-47402-005
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around SMG7 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for SMG7

Top Transcription factor binding sites by QIAGEN in the SMG7 gene promoter:
  • AML1a
  • Bach1
  • Egr-4
  • Evi-1
  • HSF2
  • p53
  • Pbx1a
  • TBP
  • ZID

Genomic Locations for SMG7 Gene

Genomic Locations for SMG7 Gene
chr1:183,472,216-183,598,246
(GRCh38/hg38)
Size:
126,031 bases
Orientation:
Plus strand
chr1:183,441,351-183,567,381
(GRCh37/hg19)
Size:
126,031 bases
Orientation:
Plus strand

Genomic View for SMG7 Gene

Genes around SMG7 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SMG7 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SMG7 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SMG7 Gene

Proteins for SMG7 Gene

  • Protein details for SMG7 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q92540-SMG7_HUMAN
    Recommended name:
    Protein SMG7
    Protein Accession:
    Q92540
    Secondary Accessions:
    • B4DRB2
    • E9PCI0
    • E9PEH2
    • Q5T1Q0
    • Q6PIE0
    • Q7Z7H9
    • Q8IXC1
    • Q8IXC2

    Protein attributes for SMG7 Gene

    Size:
    1137 amino acids
    Molecular mass:
    127282 Da
    Quaternary structure:
    • Part of a complex that contains SMG5, SMG7, PPP2CA, a short isoform of UPF3A (isoform UPF3AS, but not isoform UPF3AL) and phosphorylated UPF1.
    SequenceCaution:
    • Sequence=BAA13381.2; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for SMG7 Gene

    Alternative splice isoforms for SMG7 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SMG7 Gene

Post-translational modifications for SMG7 Gene

  • Ubiquitination at Lys66, Lys77, Lys438, and Lys817
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for SMG7 Gene

Domains & Families for SMG7 Gene

Gene Families for SMG7 Gene

Human Protein Atlas (HPA):
  • Plasma proteins
  • Predicted intracellular proteins

Protein Domains for SMG7 Gene

Suggested Antigen Peptide Sequences for SMG7 Gene

GenScript: Design optimal peptide antigens:
  • Smg-7 homolog, nonsense mediated mRNA decay factor (C. elegans) (B1ALB3_HUMAN)
  • Smg-7 homolog, nonsense mediated mRNA decay factor (C. elegans) (B1ALB5_HUMAN)
  • Smg-7 homolog, nonsense mediated mRNA decay factor (C. elegans) (B1ALB8_HUMAN)
  • Smg-7 homolog, nonsense mediated mRNA decay factor (C. elegans) (B1ALB9_HUMAN)
  • Smg-7 homolog, nonsense mediated mRNA decay factor (C. elegans), isoform CRA_a (Q6TV06_HUMAN)
genes like me logo Genes that share domains with SMG7: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for SMG7 Gene

Function for SMG7 Gene

Molecular function for SMG7 Gene

UniProtKB/Swiss-Prot Function:
Plays a role in nonsense-mediated mRNA decay. Recruits UPF1 to cytoplasmic mRNA decay bodies. Together with SMG5 is thought to provide a link to the mRNA degradation machinery involving exonucleolytic pathways, and to serve as an adapter for UPF1 to protein phosphatase 2A (PP2A), thereby triggering UPF1 dephosphorylation.

Phenotypes From GWAS Catalog for SMG7 Gene

Gene Ontology (GO) - Molecular Function for SMG7 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IEA,IPI 14636577
GO:0042162 telomeric DNA binding IDA 17916692
GO:0051721 protein phosphatase 2A binding IDA 14636577
GO:0070034 telomerase RNA binding IBA 21873635
genes like me logo Genes that share ontologies with SMG7: view
genes like me logo Genes that share phenotypes with SMG7: view

Animal Model Products

CRISPR Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for SMG7 Gene

Localization for SMG7 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SMG7 Gene

Cytoplasm. Nucleus. Note=Predominantly cytoplasmic, and nuclear. Shuttles between nucleus and cytoplasm.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for SMG7 gene
Compartment Confidence
cytoskeleton 5
nucleus 5
cytosol 5
plasma membrane 1
extracellular 1
mitochondrion 1
peroxisome 1
endoplasmic reticulum 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (3)
  • Intermediate filaments (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for SMG7 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA 14636577
GO:0005697 telomerase holoenzyme complex IBA 21873635
GO:0005737 cytoplasm IDA 14636577
GO:0005829 cytosol TAS --
GO:0045111 intermediate filament cytoskeleton IDA --
genes like me logo Genes that share ontologies with SMG7: view

Pathways & Interactions for SMG7 Gene

genes like me logo Genes that share pathways with SMG7: view

Pathways by source for SMG7 Gene

Gene Ontology (GO) - Biological Process for SMG7 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000184 nuclear-transcribed mRNA catabolic process, nonsense-mediated decay TAS 16488880
GO:0006406 mRNA export from nucleus TAS 16488880
GO:0007004 telomere maintenance via telomerase IBA 21873635
GO:0032210 regulation of telomere maintenance via telomerase IBA 21873635
GO:0035303 regulation of dephosphorylation TAS 15721257
genes like me logo Genes that share ontologies with SMG7: view

No data available for SIGNOR curated interactions for SMG7 Gene

Drugs & Compounds for SMG7 Gene

No Compound Related Data Available

Transcripts for SMG7 Gene

mRNA/cDNA for SMG7 Gene

12 REFSEQ mRNAs :
25 NCBI additional mRNA sequence :
16 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for SMG7 Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5a · 5b · 5c ^ 6 ^ 7a · 7b ^ 8 ^ 9 ^ 10a · 10b ^ 11a · 11b ^ 12 ^ 13 ^ 14 ^ 15 ^ 16a · 16b ^ 17a · 17b ^ 18a ·
SP1: - - - -
SP2: - - - -
SP3: - -
SP4: - - - - - -
SP5: -
SP6: -
SP7: -
SP8:
SP9:

ExUns: 18b ^ 19 ^ 20a · 20b ^ 21 ^ 22 ^ 23 ^ 24 ^ 25 ^ 26a · 26b
SP1: - -
SP2: - -
SP3: - -
SP4: -
SP5:
SP6:
SP7:
SP8:
SP9:

Relevant External Links for SMG7 Gene

GeneLoc Exon Structure for
SMG7

Expression for SMG7 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for SMG7 Gene

Protein differential expression in normal tissues from HIPED for SMG7 Gene

This gene is overexpressed in Plasma (28.7), Spleen (7.3), and Fetal Brain (6.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for SMG7 Gene



Protein tissue co-expression partners for SMG7 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for SMG7

SOURCE GeneReport for Unigene cluster for SMG7 Gene:

Hs.591463

Evidence on tissue expression from TISSUES for SMG7 Gene

  • Bone marrow(4.2)
  • Nervous system(3.8)
  • Intestine(2.9)
genes like me logo Genes that share expression patterns with SMG7: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for SMG7 Gene

Orthologs for SMG7 Gene

This gene was present in the common ancestor of chordates.

Orthologs for SMG7 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia SMG7 31 30
  • 99.79 (n)
OneToOne
dog
(Canis familiaris)
Mammalia SMG7 31 30
  • 95.01 (n)
OneToOne
cow
(Bos Taurus)
Mammalia SMG7 31 30
  • 94.52 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Smg7 17 31 30
  • 93.3 (n)
rat
(Rattus norvegicus)
Mammalia Smg7 30
  • 92.82 (n)
oppossum
(Monodelphis domestica)
Mammalia SMG7 31
  • 89 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia SMG7 31
  • 89 (a)
OneToOne
chicken
(Gallus gallus)
Aves SMG7 31 30
  • 84.1 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia SMG7 31
  • 83 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia smg7 30
  • 69.42 (n)
MGC76113 30
zebrafish
(Danio rerio)
Actinopterygii smg7 31 30
  • 67.79 (n)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea Cin.9583 30
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.9583 30
Species where no ortholog for SMG7 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for SMG7 Gene

ENSEMBL:
Gene Tree for SMG7 (if available)
TreeFam:
Gene Tree for SMG7 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for SMG7: view image

Paralogs for SMG7 Gene

Paralogs for SMG7 Gene

(1) SIMAP similar genes for SMG7 Gene using alignment to 8 proteins:

  • SMG7_HUMAN
  • B1ALB4_HUMAN
  • D6R9J3_HUMAN
  • D6RAD0_HUMAN
  • E9PBK2_HUMAN
  • E9PCE5_HUMAN
  • E9PD50_HUMAN
  • E9PEK3_HUMAN
genes like me logo Genes that share paralogs with SMG7: view

Variants for SMG7 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for SMG7 Gene

SNP ID Clinical significance and condition Chr 01 pos Variation AA Info Type
rs2298083 - p.Val900Ile
rs34221194 - p.Ser627Phe

Additional dbSNP identifiers (rs#s) for SMG7 Gene

Structural Variations from Database of Genomic Variants (DGV) for SMG7 Gene

Variant ID Type Subtype PubMed ID
esv3375605 CNV insertion 20981092
nsv1119740 CNV deletion 24896259

Variation tolerance for SMG7 Gene

Residual Variation Intolerance Score: 19.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 8.99; 87.39% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for SMG7 Gene

Human Gene Mutation Database (HGMD)
SMG7
SNPedia medical, phenotypic, and genealogical associations of SNPs for
SMG7

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SMG7 Gene

Disorders for SMG7 Gene

MalaCards: The human disease database

(7) MalaCards diseases for SMG7 Gene - From: DISEASES

- elite association - COSMIC cancer census association via MalaCards
Search SMG7 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for SMG7

genes like me logo Genes that share disorders with SMG7: view

No data available for UniProtKB/Swiss-Prot and Genatlas for SMG7 Gene

Publications for SMG7 Gene

  1. SMG7 is a 14-3-3-like adaptor in the nonsense-mediated mRNA decay pathway. (PMID: 15721257) Fukuhara N … Conti E (Molecular cell 2005) 2 3 4 23 54
  2. Phosphorylation of hUPF1 induces formation of mRNA surveillance complexes containing hSMG-5 and hSMG-7. (PMID: 14636577) Ohnishi T … Ohno S (Molecular cell 2003) 2 3 4 23 54
  3. SMG7 acts as a molecular link between mRNA surveillance and mRNA decay. (PMID: 15546618) Unterholzner L … Izaurralde E (Molecular cell 2004) 3 4 23 54
  4. The DNA sequence and biological annotation of human chromosome 1. (PMID: 16710414) Gregory SG … Prigmore E (Nature 2006) 3 4 54
  5. Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PMID: 17081983) Olsen JV … Mann M (Cell 2006) 3 4 54

Products for SMG7 Gene

  • Boster Bio Antibodies for SMG7
  • Boster Bio ELISA Kits for SMG7

Sources for SMG7 Gene