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Gene Gene information from NCBI Gene database.
Entrez ID 23381
Gene name SMG5 nonsense mediated mRNA decay factor
Gene symbol SMG5
Synonyms (NCBI Gene)
EST1BLPTS-RP1LPTSRP1SMG-5
Chromosome 1
Chromosome location 1q22
Summary SMG5 is involved in nonsense-mediated mRNA decay (Ohnishi et al., 2003 [PubMed 14636577]).[supplied by OMIM, Mar 2008]
miRNA miRNA information provided by mirtarbase database.
394 Show/Hide all (394)
miRTarBase ID miRNA Experiments Reference
MIRT043281 hsa-miR-331-3p CLASH 23622248
MIRT041477 hsa-miR-193b-3p CLASH 23622248
MIRT038568 hsa-miR-106b-3p CLASH 23622248
MIRT038311 hsa-miR-130b-5p CLASH 23622248
MIRT037745 hsa-miR-708-5p CLASH 23622248
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
22 Show/Hide all (22)
GO ID Ontology Definition Evidence Reference
GO:0000184 Process Nuclear-transcribed mRNA catabolic process, nonsense-mediated decay IBA
GO:0000184 Process Nuclear-transcribed mRNA catabolic process, nonsense-mediated decay IEA
GO:0000184 Process Nuclear-transcribed mRNA catabolic process, nonsense-mediated decay TAS 16488880
GO:0005515 Function Protein binding IPI 12699629, 14636577, 20930030, 21145460, 23348841
GO:0005634 Component Nucleus IDA 14636577
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
610962 24644 ENSG00000198952
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9UPR3
Protein name Nonsense-mediated mRNA decay factor SMG5 (EST1-like protein B) (LPTS-RP1) (LPTS-interacting protein) (SMG-5 homolog) (hSMG-5)
Protein function Plays a role in nonsense-mediated mRNA decay. Does not have RNase activity by itself. Promotes dephosphorylation of UPF1. Together with SMG7 is thought to provide a link to the mRNA degradation machinery involving exonucleolytic pathways, and to
PDB 2HWY
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF10373 EST1_DNA_bind 197 → 427 Est1 DNA/RNA binding domain Family
PF10373 EST1_DNA_bind 627 → 744 Est1 DNA/RNA binding domain Family
PF10374 EST1 77 → 189 Telomerase activating protein Est1 Family
PF13638 PIN_4 857 → 965 PIN domain Domain
Tissue specificity TISSUE SPECIFICITY: Ubiquitous. {ECO:0000269|PubMed:12699629, ECO:0000269|PubMed:14636577}.
Sequence
MSQGPPTGESSEPEAKVLHTKRLYRAVVEAVHRLDLILCNKTAYQEVFKPENISLRNKLR
ELCVKLMFLHPVDYGRKAEELLWRKVYYEVIQLIKTNKKHIHSRSTLECAYRTHLVAGIG
FYQHLLLYIQSHYQLELQCCIDWTHVTDPLIGCKKPVSASGKEMDWAQMACHRCLVYLGD
LSRYQNELA
GVDTELLAERFYYQALSVAPQIGMPFNQLGTLAGSKYYNVEAMYCYLRCIQ
SEVSFEGAYGNLKRLYDKAAKMYHQLKKCETRKLSPGKKRCKDIKRLLVNFMYLQSLLQP
KSSSVDSELTSLCQSVLEDFNLCLFYLPSSPNLSLASEDEEEYESGYAFLPDLLIFQMVI
ICLMCVHSLERAGSKQYSAAIAFTLALFSHLVNHVNIRLQAELEEGENPVPAFQSDGTDE
PESKEPV
EKEEEPDPEPPPVTPQVGEGRKSRKFSRLSCLRRRRHPPKVGDDSDLSEGFES
DSSHDSARASEGSDSGSDKSLEGGGTAFDAETDSEMNSQESRSDLEDMEEEEGTRSPTLE
PPRGRSEAPDSLNGPLGPSEASIASNLQAMSTQMFQTKRCFRLAPTFSNLLLQPTTNPHT
SASHRPCVNGDVDKPSEPASEEGSESEGSESSGRSCRNERSIQEKLQVLMAEGLLPAVKV
FLDWLRTNPDLIIVCAQSSQSLWNRLSVLLNLLPAAGELQESGLALCPEVQDLLEGCELP
DLPSSLLLPEDMALRNLPPLRAAH
RRFNFDTDRPLLSTLEESVVRICCIRSFGHFIARLQ
GSILQFNPEVGIFVSIAQSEQESLLQQAQAQFRMAQEEARRNRLMRDMAQLRLQLEVSQL
EGSLQQPKAQSAMSPYLVPDTQALCHHLPVIRQLATSGRFIVIIPRTVIDGLDLLKKEHP
GARDGIRYLEAEFKKGNRYIRCQKEVGKSFERHKLKRQDADAWTLYKILDSCKQLTLAQG
AGEED
PSGMVTIITGLPLDNPSVLSGPMQAALQAAAHASVDIKNVLDFYKQWKEIG
Sequence length 1016
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
KEGG Pathway Reactome Pathway
mRNA surveillance pathway Nonsense Mediated Decay (NMD) enhanced by the Exon Junction Complex (EJC)
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
1
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Reference Evidence Score
Familial cancer of breast Uncertain significance ClinVar —
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Carcinoma Hepatocellular Hepatocellular carcinoma Pubtator 33228611, 33297932, 33411682, 34603786, 37936239, 39529015 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Glioma Glioma Pubtator 37699361 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Prostatic Neoplasms Prostatic neoplasm Pubtator 21571633, 37936239 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only