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

  • SNW Domain Containing 1 2 3 5
  • Nuclear Receptor Coactivator NCoA-62 3 4
  • SNW Domain-Containing Protein 1 3 4
  • Ski-Interacting Protein 3 4
  • SKI Interacting Protein 2 3
  • Nuclear Protein SkiP 3 4
  • SKIIP 3 4
  • SKIP 3 4
  • Nuclear Receptor Coactivator, 62-KD 3
  • Homolog Of Drosophila BX42 3
  • NCOA-62 3
  • PRPF45 3
  • FUN20 3
  • Prp45 3
  • SKIP1 3
  • Bx42 3

External Ids for SNW1 Gene

Previous HGNC Symbols for SNW1 Gene

  • SKIIP

Previous GeneCards Identifiers for SNW1 Gene

  • GC14M075689
  • GC14M072000
  • GC14M076173
  • GC14M077254
  • GC14M078183
  • GC14M058349

Summaries for SNW1 Gene

Entrez Gene Summary 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 Development NOTCH1-mediated pathway for NF-KB activity modulation and Notch Signaling Pathway (WikiPathways). 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.

Gene Wiki entry for SNW1 Gene

Additional gene information for SNW1 Gene

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 for SNW1 Gene

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 UCSC Golden Path with GeneCards custom track

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

Genomic Locations for SNW1 Gene
chr14:77,717,599-77,761,218
(GRCh38/hg38)
Size:
43,620 bases
Orientation:
Minus strand
chr14:78,183,942-78,227,550
(GRCh37/hg19)
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:
SNW1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SNW1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene 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
    Secondary Accessions:
    • 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.

    Three dimensional structures from OCA and Proteopedia for SNW1 Gene

neXtProt entry for SNW1 Gene

Post-translational modifications for SNW1 Gene

  • Ubiquitination at Lys193 and Lys416
  • Modification sites at PhosphoSitePlus

Other Protein References for SNW1 Gene

No data available for DME Specific Peptides for SNW1 Gene

Domains & Families for SNW1 Gene

Protein Domains for SNW1 Gene

Blocks:
  • SKIP/SNW domain
InterPro:
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

UniProtKB/Swiss-Prot:

SNW1_HUMAN :
  • Belongs to the SNW family.
Family:
  • Belongs to the SNW family.
genes like me logo Genes that share domains with SNW1: view

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

Gene Ontology (GO) - Molecular Function 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
genes like me logo Genes that share ontologies with SNW1: view
genes like me logo Genes that share phenotypes with SNW1: view

Animal Model Products

  • Taconic Biosciences Mouse Models for SNW1

Clone Products

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

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for SNW1 gene
Compartment Confidence
nucleus 5
cytosol 3
cytoskeleton 2
plasma membrane 1
extracellular 1
mitochondrion 1
endoplasmic reticulum 1
endosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nucleoplasm (4)
  • Cytosol (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for SNW1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000785 chromatin IEA --
GO:0005634 nucleus IDA,IEA 9569025
GO:0005654 nucleoplasm IDA,TAS --
GO:0005681 spliceosomal complex IEA,IDA 15194481
GO:0005737 cytoplasm IEA --
genes like me logo Genes that share ontologies with SNW1: view

Pathways & Interactions for SNW1 Gene

genes like me logo Genes that share pathways with SNW1: view

Pathways by source 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

SIGNOR curated interactions for SNW1 Gene

Activates:
Inactivates:
Is activated by:

Gene Ontology (GO) - Biological Process 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 TAS,IEA --
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 --
genes like me logo Genes that share ontologies with SNW1: view

Drugs & Compounds for SNW1 Gene

(1) Drugs for SNW1 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(1) Additional Compounds for SNW1 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with SNW1: view

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 :

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for SNW1 Gene

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

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for SNW1 Gene

Protein differential expression in normal tissues from HIPED 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



Protein tissue co-expression partners 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.445498

Evidence on tissue expression from TISSUES for SNW1 Gene

  • Liver(4.5)
  • Nervous system(4.5)
  • Lung(2.2)
  • Kidney(2)
genes like me logo Genes that share expression patterns with SNW1: view

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.

Orthologs for SNW1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia SNW1 31 30
  • 99.56 (n)
OneToOne
dog
(Canis familiaris)
Mammalia -- 31
  • 99 (a)
OneToMany
-- 31
  • 99 (a)
OneToMany
SNW1 30
  • 94.53 (n)
oppossum
(Monodelphis domestica)
Mammalia SNW1 31
  • 99 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia SNW1 31
  • 98 (a)
OneToOne
cow
(Bos Taurus)
Mammalia SNW1 31 30
  • 94.15 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Snw1 17 31 30
  • 92.23 (n)
rat
(Rattus norvegicus)
Mammalia Snw1 30
  • 91.36 (n)
chicken
(Gallus gallus)
Aves SNW1 31 30
  • 83.33 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia SNW1 31
  • 96 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia snw1 30
  • 77.13 (n)
Str.6904 30
African clawed frog
(Xenopus laevis)
Amphibia Xl.28747 30
zebrafish
(Danio rerio)
Actinopterygii snw1 31 30
  • 76.34 (n)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP004521 30
  • 64.12 (n)
fruit fly
(Drosophila melanogaster)
Insecta Bx42 31 32 30
  • 60.76 (n)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea skp-1 31 30
  • 60.15 (n)
OneToOne
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes PRP45 33 31
  • 31 (a)
thale cress
(Arabidopsis thaliana)
eudicotyledons SKIP 30
  • 57.74 (n)
rice
(Oryza sativa)
Liliopsida Os02g0759800 30
  • 56.66 (n)
Os.19400 30
barley
(Hordeum vulgare)
Liliopsida Hv.2879 30
sea squirt
(Ciona savignyi)
Ascidiacea CSA.2170 31
  • 66 (a)
OneToOne
Cin.4259 30
bread mold
(Neurospora crassa)
Ascomycetes NCU03799 30
  • 55.56 (n)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes prp45 30
  • 54.24 (n)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.4259 30
Species where no ortholog for SNW1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya 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

genes like me logo Genes that share paralogs with SNW1: view

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 MISSENSE_VARIANT

Additional dbSNP identifiers (rs#s) for SNW1 Gene

Structural Variations from Database of Genomic Variants (DGV) for SNW1 Gene

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

Variation tolerance for SNW1 Gene

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 Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SNW1 Gene

Disorders for SNW1 Gene

MalaCards: The human disease database

(1) MalaCards diseases for SNW1 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
oculopharyngeal muscular dystrophy
  • opmd
- elite association - COSMIC cancer census association via MalaCards
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 of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with SNW1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for SNW1 Gene

Publications for SNW1 Gene

  1. 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 54
  2. 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 54
  3. 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 54
  4. 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 54
  5. A human splicing factor, SKIP, associates with P-TEFb and enhances transcription elongation by HIV-1 Tat. (PMID: 15905409) Brès V … Jones KA (Genes & development 2005) 3 4 23 54

Products for SNW1 Gene

Sources for SNW1 Gene