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Tdark Protein SMG9

Involved in nonsense-mediated decay (NMD) of mRNAs containing premature stop codons. Is recruited by release factors to stalled ribosomes together with SMG1 and SMG8 (forming the SMG1C protein kinase complex) and, in the SMG1C complex, is required for the efficient association between SMG1 and SMG8.

This gene encodes a regulatory subunit of the SMG1 complex, which plays a critical role in nonsense-mediated mRNA decay (NMD). Binding of the encoded protein to the SMG1 complex kinase scaffold protein results in the inhibition of its kinase activity. Mutations in this gene cause a multiple congenital anomaly syndrome in human patients, characterized by brain malformation, congenital heart disease and other features. [provided by RefSeq, Jul 2016]

 Comments

Property Summary

NCBI Gene PubMed Count 13
PubMed Score 62.39
PubTator Score 4.13

Knowledge Summary

Patent

No data available

TINX Plot

  Disease (2)

Disease Target Count P-value
tuberculosis and treatment for 6 months 686 1.6e-06
Disease Target Count Z-score Confidence
Acute intermittent porphyria 14 3.059 1.5

Expression

  Differential Expression (1)

Disease log2 FC p
tuberculosis and treatment for 6 months -1.300 1.6e-06

Synonym

Accession Q9H0W8 O60429 Q9H9A9
Symbols HBMS
C19orf61
F17127_1

Gene

SMG9

  Ortholog (1)

Species Source Disease
Chimp OMA EggNOG Inparanoid

 UniProt Keyword (6)

 GO Component (2)

 GO Process (1)

 Compartment GO Term (9)

 MGI Phenotype (7)

 HCA RNA Cell Line (56)

See all...

Pathway (3)

Protein-protein Interaction (5)

MAGOHB   SMG1   UPF3B   UPF3A   UPF2  

Gene RIF (2)

PMID Text
27018474 Mutations in SMG9 cause a multiple congenital anomaly syndrome in humans and mice
21640080 IQGAP1 protein, an actin cytoskeleton modifier acts as a binding partner with SMG-9 and this binding is regulated by phosphorylation of SMG-9 at Tyr-41.

AA Sequence 

MSESGHSQPGLYGIERRRRWKEPGSGGPQNLSGPGGRERDYIAPWERERRDASEETSTSVMQKTPIILSK      1 - 70
PPAERSKQPPPPTAPAAPPAPAPLEKPIVLMKPREEGKGPVAVTGASTPEGTAPPPPAAPAPPKGEKEGQ     71 - 140
RPTQPVYQIQNRGMGTAAPAAMDPVVGQAKLLPPERMKHSIKLVDDQMNWCDSAIEYLLDQTDVLVVGVL    141 - 210
GLQGTGKSMVMSLLSANTPEEDQRTYVFRAQSAEMKERGGNQTSGIDFFITQERIVFLDTQPILSPSILD    211 - 280
HLINNDRKLPPEYNLPHTYVEMQSLQIAAFLFTVCHVVIVVQDWFTDLSLYRFLQTAEMVKPSTPSPSHE    281 - 350
SSSSSGSDEGTEYYPHLVFLQNKARREDFCPRKLRQMHLMIDQLMAHSHLRYKGTLSMLQCNVFPGLPPD    351 - 420
FLDSEVNLFLVPFMDSEAESENPPRAGPGSSPLFSLLPGYRGHPSFQSLVSKLRSQVMSMARPQLSHTIL    421 - 490
TEKNWFHYAARIWDGVRKSSALAEYSRLLA                                            491 - 520
//

Text Mined References (25)

PMID Year Title
27018474 2016 Mutations in SMG9, Encoding an Essential Component of Nonsense-Mediated Decay Machinery, Cause a Multiple Congenital Anomaly Syndrome in Humans and Mice.
26496610 2015 A human interactome in three quantitative dimensions organized by stoichiometries and abundances.
25416956 2014 A proteome-scale map of the human interactome network.
25002321 2014 Structures of SMG1-UPFs complexes: SMG1 contributes to regulate UPF2-dependent activation of UPF1 in NMD.
24275569 2014 An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.
23186163 2013 Toward a comprehensive characterization of a human cancer cell phosphoproteome.
21640080 2011 Role of a tyrosine phosphorylation of SMG-9 in binding of SMG-9 to IQGAP and the NMD complex.
21406692 2011 System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation.
21269460 2011 Initial characterization of the human central proteome.
21245168 2011 The nonsense-mediated mRNA decay SMG-1 kinase is regulated by large-scale conformational changes controlled by SMG-8.
20817927 2011 Characterization of SMG-9, an essential component of the nonsense-mediated mRNA decay SMG1C complex.
20068231 2010 Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis.
19690332 2009 Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions.
19417104 2009 SMG-8 and SMG-9, two novel subunits of the SMG-1 complex, regulate remodeling of the mRNA surveillance complex during nonsense-mediated mRNA decay.
19413330 2009 Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach.
18691976 2008 Kinase-selective enrichment enables quantitative phosphoproteomics of the kinome across the cell cycle.
18669648 2008 A quantitative atlas of mitotic phosphorylation.
16344560 2006 Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
15057824 2004 The DNA sequence and biology of human chromosome 19.
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
11256614 2000 Systematic subcellular localization of novel proteins identified by large-scale cDNA sequencing.
11230166 2001 Toward a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs.
8889548 1996 Normalization and subtraction: two approaches to facilitate gene discovery.