Aliases for ISY1 Gene

Aliases for ISY1 Gene

  • ISY1 Splicing Factor Homolog 2 3 5
  • Functional Spliceosome-Associated Protein 33 2 3
  • Pre-MRNA-Splicing Factor ISY1 Homolog 3 4
  • KIAA1160 2 4
  • FSAP33 2 3
  • ISY1 Splicing Factor Homolog (S. Cerevisiae) 2
  • ISY1 5

External Ids for ISY1 Gene

Previous GeneCards Identifiers for ISY1 Gene

  • GC03M130292
  • GC03M128846
  • GC03M126234

Summaries for ISY1 Gene

GeneCards Summary for ISY1 Gene

ISY1 (ISY1 Splicing Factor Homolog) is a Protein Coding gene. Among its related pathways are Transcription-Coupled Nucleotide Excision Repair (TC-NER) and Gene Expression. An important paralog of this gene is ISY1-RAB43.

UniProtKB/Swiss-Prot Summary for ISY1 Gene

  • Component of the spliceosome C complex required for the selective processing of microRNAs during embryonic stem cell differentiation (By similarity). Required for the biogenesis of all miRNAs from the pri-miR-17-92 primary transcript except miR-92a (By similarity). Only required for the biogenesis of miR-290 and miR-96 from the pri-miR-290-295 and pri-miR-96-183 primary transcripts, respectively (By similarity). Required during the transition of embryonic stem cells (ESCs) from the naive to primed state (By similarity). By enhancing miRNA biogenesis, promotes exit of ESCs from the naive state to an intermediate state of poised pluripotency, which precedes transition to the primed state (By similarity). Involved in pre-mRNA splicing as component of the spliceosome.

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for ISY1 Gene

Genomics for ISY1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for ISY1 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 ISY1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for ISY1

Top Transcription factor binding sites by QIAGEN in the ISY1 gene promoter:
  • AML1a
  • E2F
  • E2F-1
  • E2F-2
  • E2F-3a
  • E2F-4
  • E2F-5
  • Elk-1
  • POU6F1 (c2)
  • STAT5A

Genomic Locations for ISY1 Gene

Genomic Locations for ISY1 Gene
chr3:129,127,415-129,161,063
(GRCh38/hg38)
Size:
33,649 bases
Orientation:
Minus strand
chr3:128,846,258-128,880,136
(GRCh37/hg19)
Size:
33,879 bases
Orientation:
Minus strand

Genomic View for ISY1 Gene

Genes around ISY1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ISY1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ISY1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ISY1 Gene

Proteins for ISY1 Gene

  • Protein details for ISY1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9ULR0-ISY1_HUMAN
    Recommended name:
    Pre-mRNA-splicing factor ISY1 homolog
    Protein Accession:
    Q9ULR0
    Secondary Accessions:
    • Q96IL2
    • Q9BT05

    Protein attributes for ISY1 Gene

    Size:
    285 amino acids
    Molecular mass:
    32992 Da
    Quaternary structure:
    • Identified in the spliceosome C complex (PubMed:11991638, PubMed:29301961). Component of the XAB2 complex, a multimeric protein complex composed of XAB2, PRPF19, AQR, ZNF830, ISY1, and PPIE (PubMed:17981804). Identified in a pentameric intron-binding (IB) complex composed of AQR, XAB2, ISY1, ZNF830 and PPIE that is incorporated into the spliceosome as a preassembled complex (PubMed:25599396). The IB complex does not contain PRPF19 (PubMed:25599396). Interacts with CPSF3; this interaction is in an RNA independent manner (By similarity). Interacts with the microprocessor complex subunits DGCR8 and DROSHA; this interaction is in an RNA dependent manner (By similarity).
    SequenceCaution:
    • Sequence=BAA86474.1; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305};
    Miscellaneous:
    • [Isoform 2]: Based on a readthrough transcript which may produce a ISY1-RAB43 fusion protein.

    Three dimensional structures from OCA and Proteopedia for ISY1 Gene

    Alternative splice isoforms for ISY1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ISY1 Gene

Post-translational modifications for ISY1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for ISY1 Gene

No data available for DME Specific Peptides for ISY1 Gene

Domains & Families for ISY1 Gene

Protein Domains for ISY1 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for ISY1 Gene

GenScript: Design optimal peptide antigens:
  • Pre-mRNA-splicing factor ISY1 homolog (ISY1_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9ULR0

UniProtKB/Swiss-Prot:

ISY1_HUMAN :
  • Belongs to the ISY1 family.
Family:
  • Belongs to the ISY1 family.
genes like me logo Genes that share domains with ISY1: view

Function for ISY1 Gene

Molecular function for ISY1 Gene

UniProtKB/Swiss-Prot Function:
Component of the spliceosome C complex required for the selective processing of microRNAs during embryonic stem cell differentiation (By similarity). Required for the biogenesis of all miRNAs from the pri-miR-17-92 primary transcript except miR-92a (By similarity). Only required for the biogenesis of miR-290 and miR-96 from the pri-miR-290-295 and pri-miR-96-183 primary transcripts, respectively (By similarity). Required during the transition of embryonic stem cells (ESCs) from the naive to primed state (By similarity). By enhancing miRNA biogenesis, promotes exit of ESCs from the naive state to an intermediate state of poised pluripotency, which precedes transition to the primed state (By similarity). Involved in pre-mRNA splicing as component of the spliceosome.

Phenotypes From GWAS Catalog for ISY1 Gene

Gene Ontology (GO) - Molecular Function for ISY1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003723 RNA binding HDA 22658674
GO:0005515 protein binding IPI 22365833
genes like me logo Genes that share ontologies with ISY1: view
genes like me logo Genes that share phenotypes with ISY1: view

Animal Model Products

CRISPR Products

miRNA for ISY1 Gene

miRTarBase miRNAs that target ISY1

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ISY1

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for ISY1 Gene

Localization for ISY1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ISY1 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 ISY1 gene
Compartment Confidence
nucleus 5
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nuclear speckles (4)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for ISY1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000974 Prp19 complex IBA 21873635
GO:0005634 nucleus IEA,IDA 29301961
GO:0005654 nucleoplasm TAS --
GO:0005681 spliceosomal complex IEA --
GO:0071006 U2-type catalytic step 1 spliceosome IDA 29301961
genes like me logo Genes that share ontologies with ISY1: view

Pathways & Interactions for ISY1 Gene

genes like me logo Genes that share pathways with ISY1: view

Pathways by source for ISY1 Gene

Gene Ontology (GO) - Biological Process for ISY1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000350 generation of catalytic spliceosome for second transesterification step IEA,IBA 21873635
GO:0000389 mRNA 3'-splice site recognition IBA 21873635
GO:0000398 mRNA splicing, via spliceosome TAS --
GO:0006283 transcription-coupled nucleotide-excision repair TAS --
GO:0006397 mRNA processing IEA --
genes like me logo Genes that share ontologies with ISY1: view

No data available for SIGNOR curated interactions for ISY1 Gene

Drugs & Compounds for ISY1 Gene

No Compound Related Data Available

Transcripts for ISY1 Gene

mRNA/cDNA for ISY1 Gene

2 REFSEQ mRNAs :
6 NCBI additional mRNA sequence :
7 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ISY1

Alternative Splicing Database (ASD) splice patterns (SP) for ISY1 Gene

No ASD Table

Relevant External Links for ISY1 Gene

GeneLoc Exon Structure for
ISY1

Expression for ISY1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for ISY1 Gene

Protein differential expression in normal tissues from HIPED for ISY1 Gene

This gene is overexpressed in Peripheral blood mononuclear cells (15.8) and Testis (6.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for ISY1 Gene



Protein tissue co-expression partners for ISY1 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for ISY1

SOURCE GeneReport for Unigene cluster for ISY1 Gene:

Hs.512661

Evidence on tissue expression from TISSUES for ISY1 Gene

  • Nervous system(4.6)
  • Lung(4.3)
  • Skin(3.3)
genes like me logo Genes that share expression patterns with ISY1: 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 ISY1 Gene

Orthologs for ISY1 Gene

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

Orthologs for ISY1 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia ISY1 30
  • 99.67 (n)
Dog
(Canis familiaris)
Mammalia ISY1 31
  • 98 (a)
OneToMany
Mouse
(Mus musculus)
Mammalia Isy1 31
  • 98 (a)
OneToMany
Cow
(Bos Taurus)
Mammalia ISY1 31
  • 95 (a)
OneToMany
Oppossum
(Monodelphis domestica)
Mammalia -- 31
  • 91 (a)
OneToMany
Platypus
(Ornithorhynchus anatinus)
Mammalia -- 31
  • 76 (a)
OneToMany
Chicken
(Gallus gallus)
Aves -- 31
  • 78 (a)
OneToMany
Lizard
(Anolis carolinensis)
Reptilia -- 31
  • 88 (a)
OneToMany
African clawed frog
(Xenopus laevis)
Amphibia Xl.19464 30
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia MGC76019 30
Zebrafish
(Danio rerio)
Actinopterygii rab43 31
  • 81 (a)
OneToMany
Fruit Fly
(Drosophila melanogaster)
Insecta CG9667 31
  • 60 (a)
OneToMany
Worm
(Caenorhabditis elegans)
Secernentea F53B7.3 31
  • 49 (a)
OneToMany
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes ISY1 31
  • 30 (a)
OneToMany
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 61 (a)
OneToMany
Sea Vase
(Ciona intestinalis)
Ascidiacea Cin.2201 30
Species where no ortholog for ISY1 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)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rat (Rattus norvegicus)
  • Rice (Oryza sativa)
  • 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)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)

Evolution for ISY1 Gene

ENSEMBL:
Gene Tree for ISY1 (if available)
TreeFam:
Gene Tree for ISY1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for ISY1: view image

Paralogs for ISY1 Gene

Paralogs for ISY1 Gene

(1) SIMAP similar genes for ISY1 Gene using alignment to 4 proteins:

  • ISY1_HUMAN
  • A8MVI5_HUMAN
  • D6RC18_HUMAN
  • H0YA89_HUMAN
genes like me logo Genes that share paralogs with ISY1: view

Variants for ISY1 Gene

Additional dbSNP identifiers (rs#s) for ISY1 Gene

Structural Variations from Database of Genomic Variants (DGV) for ISY1 Gene

Variant ID Type Subtype PubMed ID
esv2725900 CNV deletion 23290073
nsv474466 CNV novel sequence insertion 20440878
nsv474677 CNV novel sequence insertion 20440878
nsv591650 CNV loss 21841781

Variation tolerance for ISY1 Gene

Residual Variation Intolerance Score: 25.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.06; 1.29% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ISY1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
ISY1

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for ISY1 Gene

Disorders for ISY1 Gene

No disorders were found for ISY1 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for ISY1 Gene

Publications for ISY1 Gene

  1. Structure of a human catalytic step I spliceosome. (PMID: 29301961) Zhan X … Shi Y (Science (New York, N.Y.) 2018) 3 4
  2. The RNA helicase Aquarius exhibits structural adaptations mediating its recruitment to spliceosomes. (PMID: 25599396) De I … Pena V (Nature structural & molecular biology 2015) 3 4
  3. The Isy1p component of the NineTeen complex interacts with the ATPase Prp16p to regulate the fidelity of pre-mRNA splicing. (PMID: 16103217) Villa T … Guthrie C (Genes & development 2005) 2 3
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4
  5. Purification and characterization of native spliceosomes suitable for three-dimensional structural analysis. (PMID: 11991638) Jurica MS … Moore MJ (RNA (New York, N.Y.) 2002) 3 4

Products for ISY1 Gene

Sources for ISY1 Gene