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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... See more...
Aliases for SNW1 Gene
Aliases for SNW1 Gene
External Ids for SNW1 Gene
- HGNC: 16696
- NCBI Entrez Gene: 22938
- Ensembl: ENSG00000100603
- OMIM®: 603055
- UniProtKB/Swiss-Prot: Q13573
Previous HGNC Symbols for SNW1 Gene
- SKIIP
Previous GeneCards Identifiers for SNW1 Gene
- GC14M075689
- GC14M072000
- GC14M076173
- GC14M077254
- GC14M078183
- GC14M058349
Summaries for SNW1 Gene
-
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]
GeneCards Summary for SNW1 Gene
SNW1 (SNW Domain Containing 1) is a Protein Coding gene. Diseases associated with SNW1 include Oculopharyngeal Muscular Dystrophy. Among its related pathways are Signaling by GPCR and mRNA Splicing - Major Pathway. Gene Ontology (GO) annotations related to this gene include transcription coactivator activity.
UniProtKB/Swiss-Prot Summary for SNW1 Gene
-
Involved in pre-mRNA splicing as component of the spliceosome (PubMed:11991638, PubMed:28502770, PubMed:28076346). Is required in the specific splicing of CDKN1A pre-mRNA; the function probably involves the recruitment of U2AF2 to the mRNA. Is proposed to recruit PPIL1 to the spliceosome. May be involved in cyclin-D1/CCND1 mRNA stability through the SNARP complex which associates with both the 3'end of the CCND1 gene and its mRNA. Involved in transcriptional regulation. Modulates TGF-beta-mediated transcription via association with SMAD proteins, MYOD1-mediated transcription via association with PABPN1, RB1-mediated transcriptional repression, and retinoid-X receptor (RXR)- and vitamin D receptor (VDR)-dependent gene transcription in a cell line-specific manner probably involving coactivators NCOA1 and GRIP1. Is involved in NOTCH1-mediated transcriptional activation. Binds to multimerized forms of Notch intracellular domain (NICD) and is proposed to recruit transcriptional coactivators such as MAML1 to form an intermediate preactivation complex which associates with DNA-bound CBF-1/RBPJ to form a transcriptional activation complex by releasing SNW1 and redundant NOTCH1 NICD.
-
(Microbial infection) Is recruited by HIV-1 Tat to Tat:P-TEFb:TAR RNA complexes and is involved in Tat transcription by recruitment of MYC, MEN1 and TRRAP to the HIV promoter.
-
(Microbial infection) Proposed to be involved in transcriptional activation by EBV EBNA2 of CBF-1/RBPJ-repressed promoters.
Additional gene information for SNW1 Gene
- HGNC (16696)
- NCBI Entrez Gene (22938)
- Ensembl (ENSG00000100603)
- OMIM® (603055)
- UniProtKB/Swiss-Prot (Q13573)
- Open Targets Platform(ENSG00000100603)
- Search for SNW1 at DataMed
- Search for SNW1 at HumanCyc
No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for SNW1 Gene
Genomics for SNW1 Gene
GeneHancer (GH) Regulatory Elements Pubs
Promoters and enhancers for SNW1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data from 2017 publication |
Request up-to-date GeneHancer data (full dataset)
GeneHancers around SNW1 on the GeneHancer Hub at the UCSC Golden Path
Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for SNW1
- Top Transcription factor binding sites by QIAGEN in the SNW1 gene promoter:
-
- AML1a
- AREB6
- CUTL1
- GATA-1
- Hlf
- Pbx1a
- POU2F1
- POU2F1a
- POU2F1b
- POU2F1c
Genomic Locations for SNW1 Gene
Latest Assembly
- chr14:77,717,599-77,761,207
- (GRCh38/hg38)
- Size:
- 43,609 bases
- Orientation:
- Minus strand
Previous Assembly
- chr14:78,183,942-78,227,499
- (GRCh37/hg19 by Entrez Gene)
- Size:
- 43,558 bases
- Orientation:
- Minus strand
- chr14:78,183,942-78,227,550
- (GRCh37/hg19 by Ensembl)
- Size:
- 43,609 bases
- Orientation:
- Minus strand
Genomic View for SNW1 Gene
Genes around SNW1 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 14q24.3 by HGNC
- 14q24.3 by Entrez Gene
- 14q24.3 by Ensembl
SNW1 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence for SNW1 Gene
Proteins for SNW1 Gene
-
Protein details for SNW1 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- Q13573-SNW1_HUMAN
- Recommended name:
- SNW domain-containing protein 1
- Protein Accession:
- Q13573
- A8K8A9
- Q13483
- Q32N03
- Q5D0D6
Protein attributes for SNW1 Gene
- Size:
- 536 amino acids
- Molecular mass:
- 61494 Da
- Quaternary structure:
-
- Identified in the spliceosome C complex (PubMed:11991638, PubMed:28502770, PubMed:28076346). Associates with U4/U6-U5 tri-small nuclear ribonucleoproteins (U4/U6-U5 tri-snRNPs). Interacts SKI, SMAD2,SMAD3, RBPJ, RB1, PABPN1, MAGEA1, SIRT1, FOXN3, U2AF2, PPIL1, DAXX and ATP1B4. Interacts with VDR and RXRA; preferentially associates with VDR:RXRA heterodimers (PubMed:9632709, PubMed:12529369). Interacts with NCOR2 (PubMed:10644367). Interacts with MAML1 (PubMed:21245387). Interacts with NOTCH1 NICD; the interaction involves multimerized NOTCH1 NICD (PubMed:21245387). Forms a complex with NOTCH1 NICD and MAML1; the association is dissociated by RBPJ (PubMed:21245387). Associates with positive transcription elongation factor b (P-TEFb) (PubMed:15905409). Component of the SNARP complex which consists at least of SNIP1, SNW1, THRAP3, BCLAF1 and PNN (PubMed:18794151).
- (Microbial infection) Interacts with human papillomavirus type-16 (HPV16) E7 protein.
- (Microbial infection) Interacts with EBV EBNA2; EBNA2 competes with NCOR2 for interaction with SNW1.
Protein Expression for SNW1 Gene
Post-translational modifications for SNW1 Gene
Other Protein References for SNW1 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibodies for research
- LifeSpan BioSciences SNW1 / SKIP Antibody
- GeneTex Anti-NCOA62 antibody and Anti-NCOA62 antibody [N3C3]
-
Custom Antibody ServicesOriGene Antibodies for SNW1
- Novus Biologicals Antibodies for SNW1
-
Abcam antibodies for SNW1
- Invitrogen Antibodies for SNW1 (AFLGC-Snw1)
-
Custom Antibody ServicesProSci Antibodies for SNW1
-
Santa Cruz Biotechnology (SCBT) Antibodies for SNW1
- Sino Biological Antibodies for SNW1
Protein products for research
-
OriGene Purified Proteins for SNW1
- Search Origene for MassSpec and Protein Over-expression Lysates for SNW1
- Origene Custom Protein Services for SNW1
Assay products for research
- antibodies-online: Show 5 available SNW1 Elisa Kits ranked by validation data
- Compare Top SNW1 Elisa Kits
-
Quality Products:
No data available for DME Specific Peptides for SNW1 Gene
Domains & Families for SNW1 Gene
Gene Families for SNW1 Gene
- HGNC:
- Human Protein Atlas (HPA):
-
- Predicted intracellular proteins
Protein Domains for SNW1 Gene
- InterPro:
- Blocks:
-
- SKIP/SNW domain
- ProtoNet:
Suggested Antigen Peptide Sequences for SNW1 Gene
- GenScript: Design optimal peptide antigens:
-
- SNW1 protein (Q0D2M5_HUMAN)
- SNW1 protein (Q6I9S2_HUMAN)
- SNW1 protein (Q6P151_HUMAN)
- Ski-interacting protein (SNW1_HUMAN)
Graphical View of Domain Structure for InterPro Entry
Q13573- Family:
-
- Belongs to the SNW family.
Function for SNW1 Gene
Molecular function for SNW1 Gene
- UniProtKB/Swiss-Prot Function:
- Involved in pre-mRNA splicing as component of the spliceosome (PubMed:11991638, PubMed:28502770, PubMed:28076346). Is required in the specific splicing of CDKN1A pre-mRNA; the function probably involves the recruitment of U2AF2 to the mRNA. Is proposed to recruit PPIL1 to the spliceosome. May be involved in cyclin-D1/CCND1 mRNA stability through the SNARP complex which associates with both the 3'end of the CCND1 gene and its mRNA. Involved in transcriptional regulation. Modulates TGF-beta-mediated transcription via association with SMAD proteins, MYOD1-mediated transcription via association with PABPN1, RB1-mediated transcriptional repression, and retinoid-X receptor (RXR)- and vitamin D receptor (VDR)-dependent gene transcription in a cell line-specific manner probably involving coactivators NCOA1 and GRIP1. Is involved in NOTCH1-mediated transcriptional activation. Binds to multimerized forms of Notch intracellular domain (NICD) and is proposed to recruit transcriptional coactivators such as MAML1 to form an intermediate preactivation complex which associates with DNA-bound CBF-1/RBPJ to form a transcriptional activation complex by releasing SNW1 and redundant NOTCH1 NICD.
- UniProtKB/Swiss-Prot Function:
- (Microbial infection) Is recruited by HIV-1 Tat to Tat:P-TEFb:TAR RNA complexes and is involved in Tat transcription by recruitment of MYC, MEN1 and TRRAP to the HIV promoter.
- UniProtKB/Swiss-Prot Function:
- (Microbial infection) Proposed to be involved in transcriptional activation by EBV EBNA2 of CBF-1/RBPJ-repressed promoters.
Phenotypes From GWAS Catalog for SNW1 Gene
| 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 |
Phenotypes for SNW1 Gene
- GenomeRNAi human phenotypes for SNW1:
-
- Increased gamma-H2AX phosphorylation
- no effect
- Decreased viability
- Negative genetic interaction between MUS81-/- and MUS81+/+
- Synthetic lethal with Ras
- shRNA abundance <= 50%
- Decreased cell number
- Decreased viability (cell death)
- Increased shRNA abundance (Z-score > 2)
- Decreased shRNA abundance (Z-score < -2)
- Downregulation of NF-kappaB pathway after LMP1 stimulation
- Increased number of mitotic cells
- Negative genetic interaction between PTTG1-/- and PTTG1+/+
- Decreased homologous recombination repair frequency
- Decreased shRNA abundance
- Decreased influenza A/WSN/33 replication
- Increased Salmonella enterica Typhimurium invasion
- Negative genetic interaction between BLM-/- and BLM+/+
- Decreased viability of wild-type and TP53 knockout cells, decreased TP53 protein expression ratio (wild-type / TP53 knockout cells)
- G0/1 arrest
- Decreased centriole number
- Decreased HIV-1 infection
- Downregulation of NF-kappaB pathway after IL-1beta stimulation
- Decreased influenza A H1N1 (A/WSN/33) virus numbers
- Decreased mitotic index
- Decreased CDKN1A mRNA expression
- Increased telomere dysfunction-induced foci (TIF) formation
- Mitotic arrest, cytokinesis defect, spindle defect
- Increased mitotic delay (prometaphase or metaphase alignment problems, MAP), polylobed nuclei, many micronuclei (grape), large nuclei
Animal Models for research
-
Taconic Biosciences Mouse Models for SNW1
CRISPR products for research
- Applied Biological Materials (abm): CRISPR Clones for SNW1 - Starting at $85 >
- * SNW1 CRISPR as ready-to-use vector or virus: Non-viral | Lenti- | Adeno- | AAV- | siRNA - Browse All
- * Cas9 Nucleases, Nickases, Null Mutants, and GFP tag also available.
-
OriGene CRISPR knockouts for SNW1
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for SNW1
-
Santa Cruz Biotechnology (SCBT) CRISPR for SNW1
miRNA for SNW1 Gene
- miRTarBase miRNAs that target SNW1
-
- mmu-miR-34b-5p (MIRT012656)
- hsa-let-7c-5p (MIRT051793)
- hsa-miR-6749-3p (MIRT641529)
- hsa-miR-6792-3p (MIRT641530)
- hsa-miR-4691-5p (MIRT641531)
- hsa-miR-1304-3p (MIRT641532)
- hsa-miR-660-3p (MIRT641533)
- hsa-miR-5193 (MIRT641534)
- hsa-miR-1208 (MIRT641535)
- hsa-miR-6760-3p (MIRT641536)
- hsa-miR-141-5p (MIRT641537)
- hsa-miR-4318 (MIRT641538)
- hsa-miR-1273g-5p (MIRT790078)
- hsa-miR-203a-5p (MIRT790159)
- hsa-miR-3170 (MIRT790250)
- hsa-miR-5572 (MIRT790756)
- hsa-miR-6737-5p (MIRT790907)
- hsa-miR-6812-5p (MIRT790987)
- hsa-miR-6819-5p (MIRT790991)
- hsa-miR-6855-5p (MIRT791036)
- hsa-miR-92a-1-5p (MIRT791159)
miRNA products for research
Inhibitory RNAs for research
- Origene shrna, sirna, and RNAi products in human, mouse, rat for SNW1
- Browse OriGene Inhibitory RNA Products For SNW1
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SNW1
Clone products for research
- Applied Biological Materials (abm): Clones for SNW1 - Starting at $45 >
- * SNW1 as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Retro- | Protein Vector - Browse All
- * Viral Packaging Services and High Titer Production Services also available.
- Sino Biological Human cDNA Clone for SNW1
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for SNW1
No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for SNW1 Gene
Localization for SNW1 Gene
Subcellular locations from UniProtKB/Swiss-Prot for SNW1 Gene
- Nucleus.
| Compartment | Confidence |
|---|---|
| nucleus | 5 |
| cytosol | 3 |
| cytoskeleton | 2 |
| plasma membrane | 1 |
| extracellular | 1 |
| mitochondrion | 1 |
| peroxisome | 1 |
| endoplasmic reticulum | 1 |
| endosome | 1 |
| golgi apparatus | 1 |
- Nucleoplasm (4)
- Cytosol (2)
| 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 | -- |
Pathways & Interactions for SNW1 Gene
| 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 | ||
Pathways by source for SNW1 Gene
1 Sino Biological pathway for SNW1 Gene
3 BioSystems pathways for SNW1 Gene
22 Reactome pathways for SNW1 Gene
4 KEGG pathways for SNW1 Gene
2 GeneGo (Thomson Reuters) pathways for SNW1 Gene
- Development Notch Signaling Pathway
- Development NOTCH1-mediated pathway for NF-KB activity modulation
1 R&D Systems pathway for SNW1 Gene
1 Qiagen pathway for SNW1 Gene
- Notch Signaling
Interacting Proteins for SNW1 Gene
Selected Interacting proteins:
Q13573-SNW1_HUMAN
ENSP00000261531
for SNW1 Gene via
UniProtKB
MINT
STRING
IID
GPS-Prot Interaction Network for SNW1
SIGNOR curated interactions for SNW1 Gene
| 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 | -- |
Transcripts for SNW1 Gene
mRNA/cDNA for SNW1 Gene
- 2 REFSEQ mRNAs :
- 17 NCBI additional mRNA sequence :
- 7 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000261531 2129 nts (view in UCSC)
- ENST00000553565 564 nts (view in UCSC)
- ENST00000554324 584 nts (view in UCSC)
- ENST00000554775 1687 nts (view in UCSC)
- ENST00000555761 1855 nts (view in UCSC)
CRISPR products for research
- Applied Biological Materials (abm): CRISPR Clones for SNW1 - Starting at $85 >
- * SNW1 CRISPR as ready-to-use vector or virus: Non-viral | Lenti- | Adeno- | AAV- | siRNA - Browse All
- * Cas9 Nucleases, Nickases, Null Mutants, and GFP tag also available.
-
OriGene CRISPR knockouts for SNW1
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for SNW1
-
Santa Cruz Biotechnology (SCBT) CRISPR for SNW1
miRNA products for research
Inhibitory RNAs for research
- Origene shrna, sirna, and RNAi products in human, mouse, rat for SNW1
- Browse OriGene Inhibitory RNA Products For SNW1
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SNW1
Clone products for research
- Applied Biological Materials (abm): Clones for SNW1 - Starting at $45 >
- * SNW1 as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Retro- | Protein Vector - Browse All
- * Viral Packaging Services and High Titer Production Services also available.
- Sino Biological Human cDNA Clone for SNW1
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for SNW1
| ExUns: | 1 | ^ | 2 | ^ | 3 | ^ | 4 | ^ | 5 | ^ | 6a | · | 6b | ^ | 7 | ^ | 8 | ^ | 9 | ^ | 10 | ^ | 11 | ^ | 12a | · | 12b |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SP1: | |||||||||||||||||||||||||||
| SP2: |
Relevant External Links for SNW1 Gene
- GeneLoc Exon Structure for
- SNW1
Expression for SNW1 Gene
This gene is overexpressed in Peripheral blood mononuclear cells (15.8), Urine (10.8), and Testis (9.6).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for SNW1 Gene
- Elite partner
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for SNW1
SOURCE GeneReport for Unigene cluster for SNW1 Gene:
Hs.445498Evidence on tissue expression from TISSUES for SNW1 Gene
- Nervous system(4.6)
- Liver(4.6)
- Kidney(2.7)
- Lung(2.6)
- Skin(2.5)
- Blood(2.4)
- Muscle(2.4)
- Heart(2.3)
- Intestine(2.2)
- Bone marrow(2)
Primer products for research
-
OriGene qPCR primer pairs for SNW1
Gene Expression Assays for research
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 SNW1 Gene
Orthologs for SNW1 Gene
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 |
|
- Species where no ortholog for SNW1 was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Eremothecium gossypii)
- Actinobacteria (Mycobacterium tuberculosis)
- Alicante grape (Vitis vinifera)
- Alpha proteobacteria (Wolbachia pipientis)
- Amoeba (Dictyostelium discoideum)
- Archea (Pyrococcus horikoshii)
- Beta proteobacteria (Neisseria meningitidis)
- Chromalveolata (Phytophthora infestans)
- Common water flea (Daphnia pulex)
- Corn (Zea mays)
- E. coli (Escherichia coli)
- Filamentous fungi (Aspergillus nidulans)
- Firmicute Bacteria (Streptococcus pneumoniae)
- 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 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)
- Tomato (Lycopersicon esculentum)
- Toxoplasmosis (Toxoplasma gondii)
- Trichoplax (Trichoplax adhaerens)
- Wheat (Triticum aestivum)
Evolution for SNW1 Gene
- ENSEMBL:
- Gene Tree for SNW1 (if available)
- TreeFam:
- Gene Tree for SNW1 (if available)
- Aminode:
- Evolutionary constrained regions (ECRs) for SNW1: view image
Paralogs for SNW1 Gene
Pseudogenes.org Pseudogenes for SNW1 Gene
No data available for Paralogs for SNW1 Gene
Variants for SNW1 Gene
Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for SNW1 Gene
| SNP ID | Clinical significance and condition | Chr 14 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| rs1555387579 | Uncertain Significance: not provided | 77,737,025(-) |
C/A NM_012245.3(SNW1):c.584G>T (p.Arg195Met) |
MISSENSE |
All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).
| 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 |
Residual Variation Intolerance Score:
17.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
5.04;
68.67% of all genes are more intolerant (likely to be disease-causing)
Additional Variant Information for SNW1 Gene
- SNPedia medical, phenotypic, and genealogical associations of SNPs for
- SNW1
SNP Genotyping and Copy Number Assays for research
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SNW1 Gene
Disorders for SNW1 Gene
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| oculopharyngeal muscular dystrophy |
|
|
Search SNW1 in MalaCards
View complete list of genes associated with diseases
Additional Disease Information for SNW1
- Genetic Association Database
- (GAD)
- Human Genome Epidemiology Navigator
- (HuGE)
- Atlas
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
- Open Targets Platform
- Open Targets Platform
No data available for UniProtKB/Swiss-Prot and Genatlas for SNW1 Gene
Publications for SNW1 Gene
- The crystal structure of PPIL1 bound to cyclosporine A suggests a binding mode for a linear epitope of the SKIP protein. (PMID: 20368803) Stegmann CM … Wahl MC (PloS one 2010) 3 4 23
- A large intrinsically disordered region in SKIP and its disorder-order transition induced by PPIL1 binding revealed by NMR. (PMID: 20007319) Wang X … Shi Y (The Journal of biological chemistry 2010) 3 4 23
- SKIP interacts with c-Myc and Menin to promote HIV-1 Tat transactivation. (PMID: 19818711) Brès V … Jones KA (Molecular cell 2009) 3 4 23
- Solution structure of human peptidyl prolyl isomerase-like protein 1 and insights into its interaction with SKIP. (PMID: 16595688) Xu C … Zhang Q (The Journal of biological chemistry 2006) 3 4 23
- CHES1/FOXN3 interacts with Ski-interacting protein and acts as a transcriptional repressor. (PMID: 16102918) Scott KL … Plon SE (Gene 2005) 3 4 23
ExternalLinks
Products for SNW1 Gene
- Custom Antibody ServicesOriGene Antibodies for SNW1
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Sources for SNW1 Gene
- (1) GeneCards
- (2) HGNC
- (3) NCBI Entrez Gene
- (4) UniProtKB/Swiss-Prot
- (5) Ensembl
- (6) OMIM® (Updated: 05-Mar-2021)
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