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Aliases for ISY1 Gene

Aliases for ISY1 Gene

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

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 for ISY1 Gene

  • May play a role in pre-mRNA splicing.

Additional gene information for ISY1 Gene

No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ISY1 Gene

Genomics for ISY1 Gene

GeneHancer (GH) Regulatory Elements for ISY1 Gene

Promoters and enhancers for ISY1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH03I129159 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 562.1 -0.3 -261 4.4 PKNOX1 CLOCK ARNT ARID4B SIN3A FEZF1 DMAP1 ZNF2 IRF4 YY1 ISY1 ISY1-RAB43 RPL32P3 ENSG00000244932 H1FX-AS1 CNBP H1FX ENSG00000273437 GC03M129158 GC03P129797
GH03I128877 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 29.6 +281.7 281741 3.6 CLOCK MLX DMAP1 IRF4 YY1 SLC30A9 ZNF213 E2F8 ZNF143 SP3 ACAD9 PIR50406 ENSG00000244932 RPL32P3 ISY1 H1FX LOC653712 H1FX-AS1 MBD4 RPS15AP16
GH03I129309 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 24.1 -152.6 -152607 8.8 HDGF PKNOX1 FOXA2 SMAD1 ZFP64 ARID4B SIN3A DMAP1 ZNF2 YY1 H1FX H1FX-AS1 HMCES ISY1 RPL32P3 ENSG00000244932 MBD4 ENSG00000261159 GC03M129283
GH03I129178 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 20.2 -21.3 -21251 8.4 PKNOX1 SMAD1 FOXA2 MLX ZFP64 ARID4B NEUROD1 SIN3A FEZF1 DMAP1 CNBP LOC105374101 ENSG00000244932 RPL32P3 ISY1 MBD4 RPS15AP16 H1FX H1FX-AS1 COPG1
GH03I129447 Enhancer 1.5 FANTOM5 Ensembl ENCODE dbSUPER 26 -287.9 -287930 4 HDAC1 PKNOX1 SMAD1 ATF1 TAF9B NFRKB ZBTB40 TCF12 POLR2B ZNF766 RPL32P3 ISY1 ENSG00000244932 H1FX RHO PLXND1 IFT122 ACAD9 MBD4 GC03P129766
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around ISY1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the ISY1 gene promoter:

Genomic Locations for ISY1 Gene

Genomic Locations for ISY1 Gene
chr3:129,127,415-129,161,293
(GRCh38/hg38)
Size:
33,879 bases
Orientation:
Minus strand
chr3:128,846,258-128,880,136
(GRCh37/hg19)

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. Component of the XAB2 complex, a multimeric protein complex composed of XAB2, PRPF19, AQR, ZNF830, ISY1, and PPIE.
    SequenceCaution:
    • Sequence=BAA86474.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305};

    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:

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:
May play a role in pre-mRNA splicing.

Phenotypes From GWAS Catalog for ISY1 Gene

Gene Ontology (GO) - Molecular Function for ISY1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000384 contributes_to first spliceosomal transesterification activity IBA --
GO:0003723 RNA binding HDA,IDA 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

miRNA for ISY1 Gene

miRTarBase miRNAs that target ISY1

Clone Products

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

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 --
GO:0005634 nucleus IEA --
GO:0005654 nucleoplasm TAS --
GO:0005681 spliceosomal complex IEA --
GO:0071012 catalytic step 1 spliceosome IBA --
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 IBA --
GO:0000389 mRNA 3-splice site recognition IBA --
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

Unigene Clusters for ISY1 Gene

ISY1 splicing factor homolog (S. cerevisiae):
Representative Sequences:

Clone Products

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

No ASD Table

Relevant External Links for ISY1 Gene

GeneLoc Exon Structure for
ISY1
ECgene alternative splicing isoforms for
ISY1

Expression for ISY1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP 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, PaxDb, MaxQB, and MOPED for ISY1 Gene



Protein tissue co-expression partners for ISY1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of ISY1 Gene:

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(3.1)
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 33
  • 99.67 (n)
dog
(Canis familiaris)
Mammalia ISY1 34
  • 98 (a)
OneToMany
mouse
(Mus musculus)
Mammalia Isy1 34
  • 98 (a)
OneToMany
cow
(Bos Taurus)
Mammalia ISY1 34
  • 95 (a)
OneToMany
oppossum
(Monodelphis domestica)
Mammalia -- 34
  • 91 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 76 (a)
OneToMany
chicken
(Gallus gallus)
Aves -- 34
  • 78 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia -- 34
  • 88 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia MGC76019 33
African clawed frog
(Xenopus laevis)
Amphibia Xl.19464 33
zebrafish
(Danio rerio)
Actinopterygii rab43 34
  • 81 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta CG9667 34
  • 60 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea F53B7.3 34
  • 49 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes ISY1 34
  • 30 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 61 (a)
OneToMany
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.2201 33
Species where no ortholog for ISY1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya 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)

Paralogs for ISY1 Gene

Paralogs for ISY1 Gene

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

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

Variants for ISY1 Gene

Sequence variations from dbSNP and Humsavar for ISY1 Gene

SNP ID Clin Chr 03 pos Variation AA Info Type
rs1000043258 -- 129,138,940(-) C/T intron_variant
rs1000056556 -- 129,127,664(-) G/C 3_prime_UTR_variant
rs1000164583 -- 129,155,870(-) C/T intron_variant
rs1000230029 -- 129,144,920(-) C/A intron_variant
rs1000241991 -- 129,157,741(-) G/A intron_variant

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 for ISY1 Gene

Disorders for ISY1 Gene

Additional Disease Information for ISY1

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. 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 58
  2. 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 58
  3. 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 58
  4. Characterization of cDNA clones selected by the GeneMark analysis from size-fractionated cDNA libraries from human brain. (PMID: 10574461) Hirosawa M … Ohara O (DNA research : an international journal for rapid publication of reports on genes and genomes 1999) 3 4 58
  5. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 58

Products for ISY1 Gene

Sources for ISY1 Gene

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