Aliases for IWS1 Gene

Aliases for IWS1 Gene

  • Interacts With SUPT6H, CTD Assembly Factor 1 2 3 5
  • IWS1, SUPT6H Interacting Protein 2 3
  • Protein IWS1 Homolog 3 4
  • IWS1-Like Protein 3 4
  • IWS1 Homolog (S. Cerevisiae) 2
  • Interacts With Spt6 3
  • DKFZp761G0123 2
  • IWS1 Homolog 3
  • FLJ10006 2
  • FLJ14655 2
  • FLJ32319 2
  • IWS1L 4
  • IWS1 5

External Ids for IWS1 Gene

Previous GeneCards Identifiers for IWS1 Gene

  • GC02M127955
  • GC02M128193
  • GC02M120545

Summaries for IWS1 Gene

GeneCards Summary for IWS1 Gene

IWS1 (Interacts With SUPT6H, CTD Assembly Factor 1) is a Protein Coding gene. Diseases associated with IWS1 include Granulomatous Disease, Chronic, Autosomal Recessive, 1 and Atrial Septal Defect 1. Among its related pathways are Tat-mediated elongation of the HIV-1 transcript and Translational Control. An important paralog of this gene is MDN1.

UniProtKB/Swiss-Prot Summary for IWS1 Gene

  • Transcription factor which plays a key role in defining the composition of the RNA polymerase II (RNAPII) elongation complex and in modulating the production of mature mRNA transcripts. Acts as an assembly factor to recruit various factors to the RNAPII elongation complex and is recruited to the complex via binding to the transcription elongation factor SUPT6H bound to the C-terminal domain (CTD) of the RNAPII subunit RPB1 (POLR2A). The SUPT6H:IWS1:CTD complex recruits mRNA export factors (ALYREF/THOC4, EXOSC10) as well as histone modifying enzymes (such as SETD2) to ensure proper mRNA splicing, efficient mRNA export and elongation-coupled H3K36 methylation, a signature chromatin mark of active transcription.

Gene Wiki entry for IWS1 Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for IWS1 Gene

Genomics for IWS1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for IWS1 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 IWS1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for IWS1

Top Transcription factor binding sites by QIAGEN in the IWS1 gene promoter:
  • ATF-2
  • E2F
  • E2F-1
  • E2F-2
  • E2F-3a
  • E2F-4
  • E2F-5
  • ER-alpha
  • IRF-1
  • p53

Genomic Locations for IWS1 Gene

Latest Assembly
chr2:127,436,207-127,526,886
(GRCh38/hg38)
Size:
90,680 bases
Orientation:
Minus strand

Previous Assembly
chr2:128,238,388-128,284,065
(GRCh37/hg19 by Entrez Gene)
Size:
45,678 bases
Orientation:
Minus strand

chr2:128,193,783-128,284,462
(GRCh37/hg19 by Ensembl)
Size:
90,680 bases
Orientation:
Minus strand

Genomic View for IWS1 Gene

Genes around IWS1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
IWS1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for IWS1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for IWS1 Gene

Proteins for IWS1 Gene

  • Protein details for IWS1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q96ST2-IWS1_HUMAN
    Recommended name:
    Protein IWS1 homolog
    Protein Accession:
    Q96ST2
    Secondary Accessions:
    • Q2TB65
    • Q6P157
    • Q8N3E8
    • Q96MI7
    • Q9NV97
    • Q9NWH8

    Protein attributes for IWS1 Gene

    Size:
    819 amino acids
    Molecular mass:
    91955 Da
    Quaternary structure:
    • Interacts with SUPT6H; binds preferentially to the POLR2A-bound SUPT6H. Interacts with ALYREF/THOC4, SETD2 and PRMT5. Interacts with HDGFRP2. Interacts (via IBM motif) with PSIP1 (via IBD domain); phosphorylation increases its affinity for PSIP1 (PubMed:29997176).
    SequenceCaution:
    • Sequence=AAH65279.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential poly-A sequence.; Evidence={ECO:0000305}; Sequence=BAA91858.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for IWS1 Gene

    Alternative splice isoforms for IWS1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for IWS1 Gene

Post-translational modifications for IWS1 Gene

  • Phosphorylation increases its interaction with PSIP1.
  • Ubiquitination at Lys767
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for IWS1 Gene

Domains & Families for IWS1 Gene

Gene Families for IWS1 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for IWS1 Gene

Suggested Antigen Peptide Sequences for IWS1 Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ59547, highly similar to IWS1 homolog (B4DJ84_HUMAN)
  • IWS1-like protein (IWS1_HUMAN)
  • IWS1 protein (Q7L2V5_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q96ST2

UniProtKB/Swiss-Prot:

IWS1_HUMAN :
  • Belongs to the IWS1 family.
Family:
  • Belongs to the IWS1 family.
genes like me logo Genes that share domains with IWS1: view

Function for IWS1 Gene

Molecular function for IWS1 Gene

UniProtKB/Swiss-Prot Function:
Transcription factor which plays a key role in defining the composition of the RNA polymerase II (RNAPII) elongation complex and in modulating the production of mature mRNA transcripts. Acts as an assembly factor to recruit various factors to the RNAPII elongation complex and is recruited to the complex via binding to the transcription elongation factor SUPT6H bound to the C-terminal domain (CTD) of the RNAPII subunit RPB1 (POLR2A). The SUPT6H:IWS1:CTD complex recruits mRNA export factors (ALYREF/THOC4, EXOSC10) as well as histone modifying enzymes (such as SETD2) to ensure proper mRNA splicing, efficient mRNA export and elongation-coupled H3K36 methylation, a signature chromatin mark of active transcription.

Phenotypes From GWAS Catalog for IWS1 Gene

Gene Ontology (GO) - Molecular Function for IWS1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 17234882
genes like me logo Genes that share ontologies with IWS1: view
genes like me logo Genes that share phenotypes with IWS1: view

Animal Models for IWS1 Gene

MGI Knock Outs for IWS1:
  • Iws1 Iws1<tm1.1Cop>

miRNA for IWS1 Gene

miRTarBase miRNAs that target IWS1

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for IWS1

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for IWS1 Gene

Localization for IWS1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for IWS1 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 IWS1 gene
Compartment Confidence
nucleus 5
cytosol 2
plasma membrane 1
extracellular 1
cytoskeleton 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for IWS1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA,IDA 17234882
GO:0005654 nucleoplasm TAS --
genes like me logo Genes that share ontologies with IWS1: view

Pathways & Interactions for IWS1 Gene

genes like me logo Genes that share pathways with IWS1: view

Gene Ontology (GO) - Biological Process for IWS1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006366 transcription by RNA polymerase II TAS --
GO:0006368 transcription elongation from RNA polymerase II promoter TAS --
GO:0006397 mRNA processing IEA --
GO:0008380 RNA splicing IEA --
GO:0010793 regulation of mRNA export from nucleus IBA,IMP 17234882
genes like me logo Genes that share ontologies with IWS1: view

No data available for SIGNOR curated interactions for IWS1 Gene

Drugs & Compounds for IWS1 Gene

No Compound Related Data Available

Transcripts for IWS1 Gene

mRNA/cDNA for IWS1 Gene

1 REFSEQ mRNAs :
17 NCBI additional mRNA sequence :
12 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for IWS1

Alternative Splicing Database (ASD) splice patterns (SP) for IWS1 Gene

ExUns: 1a · 1b ^ 2a · 2b · 2c · 2d · 2e · 2f ^ 3a · 3b · 3c ^ 4 ^ 5 ^ 6 ^ 7a · 7b · 7c · 7d · 7e · 7f · 7g · 7h · 7i ^ 8a · 8b ^ 9 ^
SP1:
SP2: - - - - - - - - - - - - - - - - - - - -
SP3: - - - - - - - - -
SP4: - - -
SP5: - - - - -
SP6: - - - -
SP7: - - - - -
SP8: - -
SP9: - -
SP10: -
SP11: - - - - - -
SP12: - - - - - - - -

ExUns: 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:
SP12:

Relevant External Links for IWS1 Gene

GeneLoc Exon Structure for
IWS1

Expression for IWS1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for IWS1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for IWS1 Gene

This gene is overexpressed in Adrenal (32.4), Peripheral blood mononuclear cells (8.3), and Lung (6.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for IWS1 Gene



Protein tissue co-expression partners for IWS1 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for IWS1

SOURCE GeneReport for Unigene cluster for IWS1 Gene:

Hs.469879

Evidence on tissue expression from TISSUES for IWS1 Gene

  • Nervous system(4.9)
  • Liver(4.4)
  • Blood(4.3)
  • Eye(4.1)
  • Lung(2.6)
  • Kidney(2.2)
  • Muscle(2.1)
genes like me logo Genes that share expression patterns with IWS1: view

Primer products for research

No data available for mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for IWS1 Gene

Orthologs for IWS1 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for IWS1 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia IWS1 29 30
  • 99.59 (n)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia -- 30
  • 96 (a)
OneToMany
-- 30
  • 78 (a)
OneToMany
Dog
(Canis familiaris)
Mammalia IWS1 29 30
  • 89.82 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia IWS1 29 30
  • 89.61 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Iws1 29 16 30
  • 88.2 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Iws1 29
  • 86.35 (n)
Oppossum
(Monodelphis domestica)
Mammalia IWS1 30
  • 72 (a)
OneToOne
Chicken
(Gallus gallus)
Aves IWS1 29 30
  • 74.52 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia IWS1 30
  • 71 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia iws1 29
  • 66 (n)
Str.2923 29
African clawed frog
(Xenopus laevis)
Amphibia Xl.12317 29
Zebrafish
(Danio rerio)
Actinopterygii LOC100329390 29
  • 60.97 (n)
IWS1 30
  • 57 (a)
OneToOne
Dr.690 29
Rainbow Trout
(Oncorhynchus mykiss)
Actinopterygii Omy.6347 29
Fruit Fly
(Drosophila melanogaster)
Insecta CG9915 30
  • 28 (a)
OneToOne
Worm
(Caenorhabditis elegans)
Secernentea F13B12.1 29 30
  • 49.1 (n)
OneToOne
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes SPN1 30 32
  • 26 (a)
OneToOne
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 30
  • 56 (a)
OneToOne
Species where no ortholog for IWS1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • 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)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)

Evolution for IWS1 Gene

ENSEMBL:
Gene Tree for IWS1 (if available)
TreeFam:
Gene Tree for IWS1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for IWS1: view image
Alliance of Genome Resources:
Additional Orthologs for IWS1

Paralogs for IWS1 Gene

Paralogs for IWS1 Gene

genes like me logo Genes that share paralogs with IWS1: view

Variants for IWS1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for IWS1 Gene

SNP ID Clinical significance and condition Chr 02 pos Variation AA Info Type
rs34912560 Benign: not provided 127,503,518(-) T/C
NM_017969.3(IWS1):c.1278A>G (p.Ser426=)
SYNONYMOUS
rs73953629 Benign: not provided 127,505,036(-) C/T
NM_017969.3(IWS1):c.867G>A (p.Ser289=)
SYNONYMOUS
rs34377117 -- p.Ala390Val
rs34785867 -- p.Val425Ile

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for IWS1 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for IWS1 Gene

Variant ID Type Subtype PubMed ID
nsv2912 CNV deletion 18451855

Variation tolerance for IWS1 Gene

Residual Variation Intolerance Score: 9.93% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.55; 55.80% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for IWS1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
IWS1
Leiden Open Variation Database (LOVD)
IWS1

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for IWS1 Gene

Disorders for IWS1 Gene

MalaCards: The human disease database

(2) MalaCards diseases for IWS1 Gene - From: COP

- elite association - COSMIC cancer census association via MalaCards
Search IWS1 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for IWS1

genes like me logo Genes that share disorders with IWS1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for IWS1 Gene

Publications for IWS1 Gene

  1. The Spt6 SH2 domain binds Ser2-P RNAPII to direct Iws1-dependent mRNA splicing and export. (PMID: 17234882) Yoh SM … Jones KA (Genes & development 2007) 2 3 4
  2. A putative transcriptional elongation factor hIws1 is essential for mammalian cell proliferation. (PMID: 17184735) Liu Z … Bao S (Biochemical and biophysical research communications 2007) 2 3 4
  3. Affinity switching of the LEDGF/p75 IBD interactome is governed by kinase-dependent phosphorylation. (PMID: 29997176) Sharma S … Veverka V (Proceedings of the National Academy of Sciences of the United States of America 2018) 3 4
  4. HDGF-related protein-2 (HRP-2) acts as an oncogene to promote cell growth in hepatocellular carcinoma. (PMID: 25689719) Gao K … Zhang P (Biochemical and biophysical research communications 2015) 3 4
  5. The Iws1:Spt6:CTD complex controls cotranscriptional mRNA biosynthesis and HYPB/Setd2-mediated histone H3K36 methylation. (PMID: 19141475) Yoh SM … Jones KA (Genes & development 2008) 3 4

Products for IWS1 Gene

Sources for IWS1 Gene