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This gene, a member of the SNW gene family, encodes a coactivator that enhances transcription from some Pol II promoters. This coactivator can bind to the ligand-binding domain of the vitamin D receptor and to retinoid receptors to enhance vitamin D-, retinoic acid-, estrogen-, and glucocorticoid-mediated gene expression. It can also function as a splicing factor by interacting with poly(A)-binding protein 2 to directly control the expression of muscle-specific genes at the transcriptional level. Finally, the protein may be involved in oncogenesis since it interacts with a region of SKI oncoproteins that is required for transforming activity. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016]
SNW1 (SNW Domain Containing 1) is a Protein Coding gene. Diseases associated with SNW1 include Oculopharyngeal Muscular Dystrophy and Arteriovenous Malformations Of The Brain. Among its related pathways are Transcriptional activity of SMAD2/SMAD3-SMAD4 heterotrimer and Signaling by GPCR. Gene Ontology (GO) annotations related to this gene include transcription coactivator activity.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0003713 | transcription coactivator activity | IDA | 11514567 |
GO:0003714 | transcription corepressor activity | IDA | 14985122 |
GO:0003723 | RNA binding | HDA | 22681889 |
GO:0005112 | Notch binding | IPI | 10713164 |
GO:0005515 | protein binding | IPI | 9569025 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000785 | chromatin | IEA | -- |
GO:0005634 | nucleus | IEA,IDA | 9569025 |
GO:0005654 | nucleoplasm | IDA,TAS | -- |
GO:0005681 | spliceosomal complex | IEA,IDA | 15194481 |
GO:0005737 | cytoplasm | IEA | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Signaling by NOTCH1 | ||
2 | mRNA Splicing - Major Pathway |
.79
|
.47
|
3 | Notch Signaling Pathway (WikiPathways) | ||
4 | Pre-NOTCH Expression and Processing | ||
5 | Transcriptional activity of SMAD2/SMAD3-SMAD4 heterotrimer |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000122 | negative regulation of transcription by RNA polymerase II | IDA | 14985122 |
GO:0000398 | mRNA splicing, via spliceosome | IEA,TAS | -- |
GO:0006357 | regulation of transcription by RNA polymerase II | TAS | 9632709 |
GO:0006367 | transcription initiation from RNA polymerase II promoter | TAS | -- |
GO:0006397 | mRNA processing | IEA | -- |
ExUns: | 1 | ^ | 2 | ^ | 3 | ^ | 4 | ^ | 5 | ^ | 6a | · | 6b | ^ | 7 | ^ | 8 | ^ | 9 | ^ | 10 | ^ | 11 | ^ | 12a | · | 12b |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | |||||||||||||||||||||||||||
SP2: |
This gene was present in the common ancestor of eukaryotes.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | SNW1 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | -- 31 |
|
OneToMany | |
-- 31 |
|
OneToMany | |||
SNW1 30 |
|
||||
Oppossum (Monodelphis domestica) |
Mammalia | SNW1 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | SNW1 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | SNW1 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Snw1 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Snw1 30 |
|
||
Chicken (Gallus gallus) |
Aves | SNW1 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | SNW1 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | snw1 30 |
|
||
Str.6904 30 |
|
||||
African clawed frog (Xenopus laevis) |
Amphibia | Xl.28747 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | snw1 30 31 |
|
OneToOne | |
African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP004521 30 |
|
||
Fruit Fly (Drosophila melanogaster) |
Insecta | Bx42 30 31 32 |
|
OneToOne | |
Worm (Caenorhabditis elegans) |
Secernentea | skp-1 30 31 |
|
OneToOne | |
Baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | PRP45 31 33 |
|
OneToOne | |
Thale Cress (Arabidopsis thaliana) |
eudicotyledons | SKIP 30 |
|
||
Rice (Oryza sativa) |
Liliopsida | Os02g0759800 30 |
|
||
Os.19400 30 |
|
||||
Barley (Hordeum vulgare) |
Liliopsida | Hv.2879 30 |
|
||
Sea Squirt (Ciona savignyi) |
Ascidiacea | CSA.2170 31 |
|
OneToOne | |
Bread mold (Neurospora crassa) |
Ascomycetes | NCU03799 30 |
|
||
Fission Yeast (Schizosaccharomyces pombe) |
Schizosaccharomycetes | prp45 30 |
|
||
Sea Vase (Ciona intestinalis) |
Ascidiacea | Cin.4259 30 |
|
SNP ID | Clinical significance and condition | Chr 14 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
rs1555387579 | Uncertain Significance: not provided | 77,737,025(-) | C/A | MISSENSE_VARIANT |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
esv1469738 | CNV | insertion | 17803354 |
esv2759998 | CNV | gain | 17122850 |
esv34940 | CNV | gain | 17911159 |
esv3551814 | CNV | deletion | 23714750 |
esv3635010 | CNV | gain | 21293372 |
esv3635013 | CNV | loss | 21293372 |
nsv519957 | CNV | loss | 19592680 |
nsv520021 | CNV | gain | 19592680 |
nsv521287 | CNV | gain | 19592680 |
Disorder | Aliases | PubMed IDs |
---|---|---|
oculopharyngeal muscular dystrophy |
|
|
arteriovenous malformations of the brain |
|
|