Gene
|
Entrez ID
Entrez Gene ID - the GENE ID in NCBI Gene database.
|
23049 |
Gene nameGene Name - the full gene name approved by the HGNC.
|
SMG1 nonsense mediated mRNA decay associated PI3K related kinase |
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
|
SMG1 |
SynonymsGene synonyms aliases
|
61E3.4, ATX, LIP |
ChromosomeChromosome number
|
16 |
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
|
16p12.3 |
SummarySummary of gene provided in NCBI Entrez Gene.
|
This gene encodes a protein involved in nonsense-mediated mRNA decay (NMD) as part of the mRNA surveillance complex. The protein has kinase activity and is thought to function in NMD by phosphorylating the regulator of nonsense transcripts 1 protein. Alte |
miRNAmiRNA information provided by mirtarbase database.
|
|
Gene ontology (GO)Gene ontology information of associated ontologies with gene provided by GO database.
|
GO ID |
Ontology |
Definition |
Evidence |
Reference |
GO:0000184 |
Process |
Nuclear-transcribed mRNA catabolic process, nonsense-mediated decay |
IDA |
11544179 |
GO:0000184 |
Process |
Nuclear-transcribed mRNA catabolic process, nonsense-mediated decay |
NAS |
11331269 |
GO:0000184 |
Process |
Nuclear-transcribed mRNA catabolic process, nonsense-mediated decay |
TAS |
16488880 |
GO:0003723 |
Function |
RNA binding |
HDA |
22681889 |
GO:0004672 |
Function |
Protein kinase activity |
TAS |
14636577 |
GO:0004674 |
Function |
Protein serine/threonine kinase activity |
EXP |
11544179 |
GO:0004674 |
Function |
Protein serine/threonine kinase activity |
IBA |
21873635 |
GO:0004674 |
Function |
Protein serine/threonine kinase activity |
IDA |
11544179, 15175154, 19417104 |
GO:0004674 |
Function |
Protein serine/threonine kinase activity |
NAS |
11331269 |
GO:0005515 |
Function |
Protein binding |
IPI |
11544179, 16452507, 18256688, 19417104, 20371770, 20864032 |
GO:0005524 |
Function |
ATP binding |
IEA |
|
GO:0005634 |
Component |
Nucleus |
IBA |
21873635 |
GO:0005634 |
Component |
Nucleus |
IDA |
14636577, 15175154 |
GO:0005654 |
Component |
Nucleoplasm |
IDA |
|
GO:0005737 |
Component |
Cytoplasm |
IDA |
14636577, 15175154 |
GO:0005829 |
Component |
Cytosol |
TAS |
|
GO:0006281 |
Process |
DNA repair |
IEA |
|
GO:0006406 |
Process |
MRNA export from nucleus |
TAS |
16488880 |
GO:0016242 |
Process |
Negative regulation of macroautophagy |
IBA |
21873635 |
GO:0018105 |
Process |
Peptidyl-serine phosphorylation |
IDA |
11544179, 15175154 |
GO:0018105 |
Process |
Peptidyl-serine phosphorylation |
TAS |
14636577 |
GO:0031931 |
Component |
TORC1 complex |
IBA |
21873635 |
GO:0031932 |
Component |
TORC2 complex |
IBA |
21873635 |
GO:0032204 |
Process |
Regulation of telomere maintenance |
IMP |
17916692 |
GO:0038202 |
Process |
TORC1 signaling |
IBA |
21873635 |
GO:0042162 |
Function |
Telomeric DNA binding |
IDA |
17916692 |
GO:0046777 |
Process |
Protein autophosphorylation |
IDA |
11331269, 11544179 |
GO:0046854 |
Process |
Phosphatidylinositol phosphorylation |
IDA |
11331269 |
GO:0046872 |
Function |
Metal ion binding |
IEA |
|
GO:0106310 |
Function |
Protein serine kinase activity |
IEA |
|
GO:0106311 |
Function |
Protein threonine kinase activity |
IEA |
|
GO:2001020 |
Process |
Regulation of response to DNA damage stimulus |
IDA |
15175154 |
|
Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
|
|
Protein
|
UniProt ID |
Q96Q15 |
Protein name |
Serine/threonine-protein kinase SMG1 (SMG-1) (hSMG-1) (EC 2.7.11.1) (Lambda/iota protein kinase C-interacting protein) (Lambda-interacting protein) (Nonsense mediated mRNA decay-associated PI3K-related kinase SMG1) |
Protein function |
Serine/threonine protein kinase involved in both mRNA surveillance and genotoxic stress response pathways. Recognizes the substrate consensus sequence [ST]-Q. Plays a central role in nonsense-mediated decay (NMD) of mRNAs containing premature st |
PDB |
6L53
,
6L54
,
6SYT
,
6Z3R
,
7PW4
,
7PW5
,
7PW6
,
7PW7
,
7PW8
,
7PW9
|
Family and domains |
Pfam
Accession |
ID |
Position in sequence |
Description |
Type |
PF17229 |
SMG1_N |
32 → 140 |
Serine/threonine-protein kinase SMG1 N-terminal |
Disordered |
PF15785 |
SMG1 |
631 → 1242 |
Serine/threonine-protein kinase smg-1 |
Family |
PF00454 |
PI3_PI4_kinase |
2149 → 2427 |
Phosphatidylinositol 3- and 4-kinase |
Family |
PF02260 |
FATC |
3630 → 3661 |
FATC domain |
Family |
|
Sequence |
|
Sequence length |
3661 |
Interactions |
View interactions |
PathwaysPathway information has different metabolic/signaling pathways associated with genes. Each record is hyperlinked to a complete information page which also includes links to the KEGG/Reactome pathway database.
|
|
Associated diseases
|
Causal |
Disease name |
Disease term |
dbSNP ID |
References |
Schizophrenia |
Schizophrenia |
rs74315508, rs74315509, rs13447324, rs1558507406, rs387906932, rs387906933, rs863223354, rs863223355, rs776061422, rs863223349, rs748809996, rs759748655, rs863223353, rs863223350, rs863223356, rs781821239, rs863223348, rs863223346, rs863223347, rs863223351, rs863223352, rs61734270, rs797045205, rs869312829, rs869312830, rs770913157, rs869312832, rs869312831, rs781720548, rs1262969313 |
21926974 |
|
Unknown |
Disease name |
Disease term |
dbSNP ID |
References |
Infiltrating duct carcinoma of female breast |
Infiltrating duct carcinoma of female breast |
|
|
|