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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 mRNA Splicing - Major Pathway and Transcription-Coupled Nucleotide Excision Repair (TC-NER). GO annotations related to this gene include poly(A) RNA binding. An important paralog of this gene is ISY1-RAB43.

UniProtKB/Swiss-Prot for ISY1 Gene

  • May play a role in pre-mRNA splicing.

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

Regulatory Elements for ISY1 Gene

Enhancers for ISY1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH03G129309 1.4 ENCODE dbSUPER 24 -152.6 -152608 8.8 HDGF PKNOX1 FOXA2 AGO1 ZFP64 WRNIP1 ARID4B SIN3A DMAP1 ZNF2 HMCES ISY1 RPL32P3 H1FX ENSG00000244932 H1FX-AS1 MBD4 ENSG00000261159 GC03M129283
GH03G129223 2 FANTOM5 Ensembl ENCODE dbSUPER 15.5 -68.5 -68505 12.0 HDGF PKNOX1 FOXA2 MLX CREB3L1 ARNT ZFP64 SIN3A ARID4B DMAP1 KIAA1257 RAB43 CNBP GP9 ISY1 HMCES MBD4 RPL32P3 ACAD9 POU5F1P6
GH03G129116 1.9 FANTOM5 Ensembl ENCODE dbSUPER 14 +41.2 41214 7.9 HDGF HNRNPUL1 FOXA2 PKNOX1 MLX ARID4B SIN3A DMAP1 ZBTB7B YY1 KIAA1257 ISY1 GP9 RAB43 EFCC1 MBD4 ACAD9 RPL32P3 HMCES CNBP
GH03G128431 2 FANTOM5 Ensembl ENCODE dbSUPER 13.1 +727.1 727083 4.7 PKNOX1 FOXA2 CREB3L1 MLX ARID4B SIN3A DMAP1 ZNF2 ZBTB7B YY1 DNAJB8-AS1 ISY1 ENSG00000244932 DNAJB8 EEFSEC H1FX RPL32P3 LINC01565 H1FX-AS1 RUVBL1
GH03G129591 1.8 FANTOM5 ENCODE dbSUPER 13.2 -439.7 -439681 19.4 MLX CREB3L1 AGO1 ZFP64 YBX1 FEZF1 DMAP1 YY1 ZNF143 ZNF263 RPL32P3 H1FX-AS1 IFT122 ISY1 LINC02021 ENSG00000244932 H1FX RHO PLXND1 ENSG00000203644
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around ISY1 on UCSC Golden Path with GeneCards custom track

Promoters for ISY1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000158191 293 2401 CREB3L1 MLX AGO1 DMAP1 YY1 SLC30A9 ZNF143 SP3 NFYC TBX21

Genomic Location for ISY1 Gene

Chromosome:
3
Start:
129,127,415 bp from pter
End:
129,161,293 bp from pter
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. 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

No data available for Gene Families for ISY1 Gene

Function for ISY1 Gene

Molecular function for ISY1 Gene

UniProtKB/Swiss-Prot Function:
May play a role in pre-mRNA splicing.

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 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

Animal Model Products

CRISPR Products

Inhibitory RNA 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

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:

CRISPR Products

Inhibitory RNA 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

Primer Products

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 34
  • 99.67 (n)
dog
(Canis familiaris)
Mammalia ISY1 35
  • 98 (a)
OneToMany
mouse
(Mus musculus)
Mammalia Isy1 35
  • 98 (a)
OneToMany
cow
(Bos Taurus)
Mammalia ISY1 35
  • 95 (a)
OneToMany
oppossum
(Monodelphis domestica)
Mammalia -- 35
  • 91 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia -- 35
  • 76 (a)
OneToMany
chicken
(Gallus gallus)
Aves -- 35
  • 78 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia -- 35
  • 88 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia MGC76019 34
African clawed frog
(Xenopus laevis)
Amphibia Xl.19464 34
zebrafish
(Danio rerio)
Actinopterygii rab43 35
  • 81 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta CG9667 35
  • 60 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea F53B7.3 35
  • 49 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes ISY1 35
  • 30 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 61 (a)
OneToMany
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.2201 34
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 Sequence Context AA Info Type
rs1000043258 -- 129,138,940(+) TATAA(C/T)TTTTT intron-variant
rs1000056556 -- 129,127,664(+) CAGCT(C/G)GGTGC intron-variant, utr-variant-3-prime
rs1000164583 -- 129,155,870(+) GCATG(C/T)GCTAC intron-variant
rs1000230029 -- 129,144,920(+) TTTAT(A/C)TTTTT intron-variant
rs1000241991 -- 129,157,741(+) AAAGG(A/G)CCGGG 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)

Relevant External Links for ISY1 Gene

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

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ISY1 Gene

Disorders for ISY1 Gene

Relevant External Links for ISY1

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
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 Dev. 2005) 2 3 64
  2. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4 64
  3. Purification and characterization of native spliceosomes suitable for three-dimensional structural analysis. (PMID: 11991638) Jurica M.S. … Moore M.J. (RNA 2002) 3 4 64
  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 Res. 1999) 3 4 64
  5. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3 64

Products for ISY1 Gene

Sources for ISY1 Gene

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