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Aliases for SMG7 Gene

Aliases for SMG7 Gene

  • SMG7, Nonsense Mediated MRNA Decay Factor 2 3 5
  • EST1-Like Protein C 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
  • 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
  • Protein SMG7 3
  • 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. Among its related pathways are mRNA surveillance pathway and Gene Expression. GO annotations related to this gene include protein phosphatase 2A binding. An important paralog of this gene is SMG5.

UniProtKB/Swiss-Prot 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 , fRNAdb sequence ontologies and piRNA Summary for SMG7 Gene

Genomics for SMG7 Gene

Regulatory Elements for SMG7 Gene

Enhancers for SMG7 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH01H183469 1.5 ENCODE dbSUPER 29.9 -0.4 -408 4.2 MLX FEZF1 DMAP1 YY1 ZNF416 ZNF143 ZNF548 SP3 NFYC ZC3H11A DHX9 LAMC1-AS1 HMGN1P4 SMG7 LAMC1 SMG7-AS1 ENSG00000227554 KRT18P28 LOC100271717 RNA5SP71
GH01H183567 1.4 Ensembl ENCODE dbSUPER 14.2 +96.4 96367 2.7 PKNOX1 ZNF133 TCF12 ZNF766 GATA2 ATF7 RUNX3 NCOA1 REST SREBF1 SMG7 GC01M183483 PIR51337
GH01H184036 1.7 FANTOM5 ENCODE dbSUPER 10.9 +564.9 564922 2.3 HDGF FOXA2 ARNT FEZF1 ZNF2 YY1 SLC30A9 GLIS2 CBX5 ZNF302 COLGALT2 SMG7 TSEN15 RGL1 GC01P183964
GH01H183804 1.7 FANTOM5 Ensembl ENCODE dbSUPER 10.4 +334.5 334499 5 ELF3 PKNOX1 RB1 SIN3A DMAP1 BATF SCRT2 ZNF143 ZNF207 ATF7 DHX9 ENSG00000227554 SMG7 NCF2 ARPC5 GC01M183931
GH01H184385 1.7 FANTOM5 Ensembl ENCODE 10.2 +915.9 915893 4.6 PKNOX1 ZNF133 SIN3A FEZF1 GLI4 ZNF2 ZNF121 GLIS2 ZNF416 KLF7 SMG7-AS1 SWT1 ENSG00000273004 FTH1P25 ENSG00000227554 ENSG00000252612 ENSG00000271387 SMG7 EDEM3 C1orf21
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around SMG7 on UCSC Golden Path with GeneCards custom track

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)

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=Translation N-terminally shortened.; 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 isoforms=2, 4, 566, isoforms=2, 4, 577, isoforms=2, 4, 5438, 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

Graphical View of Domain Structure for InterPro Entry

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

No data available for 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:0004540 ribonuclease activity IBA --
GO:0005515 protein binding IPI 14636577
GO:0042162 telomeric DNA binding IDA 17916692
GO:0043021 ribonucleoprotein complex binding IBA --
GO:0051721 protein phosphatase 2A binding IDA 14636577
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

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

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 --
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 --
GO:0035303 regulation of dephosphorylation TAS 15721257
GO:0043487 regulation of RNA stability IBA --
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

Unigene Clusters for SMG7 Gene

Smg-7 homolog, nonsense mediated mRNA decay factor (C. elegans):
Representative Sequences:

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
ECgene alternative splicing isoforms for
SMG7

Expression for SMG7 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP 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, PaxDb, MaxQB, and MOPED for SMG7 Gene



Protein tissue co-expression partners for SMG7 Gene

NURSA nuclear receptor signaling pathways regulating expression of SMG7 Gene:

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 33 34
  • 99.79 (n)
dog
(Canis familiaris)
Mammalia SMG7 33 34
  • 95.01 (n)
cow
(Bos Taurus)
Mammalia SMG7 33 34
  • 94.52 (n)
mouse
(Mus musculus)
Mammalia Smg7 33 16 34
  • 93.3 (n)
rat
(Rattus norvegicus)
Mammalia Smg7 33
  • 92.82 (n)
oppossum
(Monodelphis domestica)
Mammalia SMG7 34
  • 89 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia SMG7 34
  • 89 (a)
OneToOne
chicken
(Gallus gallus)
Aves SMG7 33 34
  • 84.1 (n)
lizard
(Anolis carolinensis)
Reptilia SMG7 34
  • 83 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia smg7 33
  • 69.42 (n)
MGC76113 33
zebrafish
(Danio rerio)
Actinopterygii smg7 33 34
  • 67.79 (n)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.9583 33
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)

Paralogs for SMG7 Gene

Paralogs for SMG7 Gene

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

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

Variants for SMG7 Gene

Sequence variations from dbSNP and Humsavar for SMG7 Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type
rs1000009573 -- 183,523,759(+) CAAGA(C/T)ATTCT intron-variant
rs1000029693 -- 183,521,164(+) GTGCA(A/G)TGGCG intron-variant
rs1000031755 -- 183,534,680(+) ACATG(A/G)TGAAA intron-variant
rs1000057379 -- 183,526,307(+) CCACT(A/C)CCGGC intron-variant
rs1000063351 -- 183,509,664(+) GTGCT(G/T)CTTTC intron-variant

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

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

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)

Relevant External Links for SMG7 Gene

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

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

Disorders for SMG7 Gene

Relevant External Links for SMG7

Human Genome Epidemiology (HuGE) Navigator
SMG7
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
SMG7

No disorders were found for SMG7 Gene.

No data available for MalaCards , 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 22 60
  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 22 60
  3. SMG7 acts as a molecular link between mRNA surveillance and mRNA decay. (PMID: 15546618) Unterholzner L … Izaurralde E (Molecular cell 2004) 3 4 22 60
  4. The DNA sequence and biological annotation of human chromosome 1. (PMID: 16710414) Gregory SG … Prigmore E (Nature 2006) 3 4 60
  5. Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PMID: 17081983) Olsen JV … Mann M (Cell 2006) 3 4 60

Products for SMG7 Gene

Sources for SMG7 Gene

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