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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 , 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
GH03F129309 0.9 ENCODE 24 -152.6 -152608 8.8 HDGF PKNOX1 WRNIP1 ZFP64 ARID4B SIN3A DMAP1 ZNF2 YY1 SLC30A9 HMCES ISY1 ENSG00000248659 MARK2P6 MARK3P3 DNAJB8-AS1 OR7E21P OR7E129P MARK2P17 DNAJB8
GH03F128778 1 Ensembl ENCODE 22.6 +374.1 374063 16.9 PKNOX1 WRNIP1 ZFP64 ARID4B SIN3A BRCA1 ZNF2 YY1 GLIS2 FOS RPL32P3 ENSG00000244932 ISY1 EEFSEC LOC653712 H1FX-AS1 IFT122 ENSG00000250796 ENSG00000207130 RAB7A
GH03F129178 0.2 ENCODE 16.9 -21.3 -21252 8.4 PKNOX1 MLX ZFP64 ARID4B SIN3A FEZF1 DMAP1 ZNF2 YY1 SLC30A9 ISY1 ENSG00000244932 RPL32P3 RPS15AP16 H1FX-AS1 RPN1 MBD4 ENSG00000203644 RAB7A EFCC1
GH03F129195 1 Ensembl ENCODE 16.1 -35.5 -35508 3.2 HDAC1 CBX3 JUN MAX BACH1 SIN3A UBTF RAD21 ZNF2 RFX5 ISY1 RAB43 HMCES ACAD9 EFCC1 LOC105374101 GC03M129220
GH03F129223 1.6 FANTOM5 Ensembl ENCODE 15.5 -68.6 -68605 12.2 HDGF PKNOX1 CREB3L1 MLX ZFP64 ARID4B SIN3A DMAP1 YY1 FOS KIAA1257 RAB43 CNBP GP9 ISY1 HMCES MBD4 RPL32P3 ACAD9 POU5F1P6
- Elite enhancer/Elite enhancer-gene association Download Table
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
ENSR00001373523 293 2801 MLX CREB3L1 DMAP1 YY1 SLC30A9 ZNF143 SP3 NFYC TBX21 MEF2D

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:0005515 protein binding IPI 22365833
GO:0044822 poly(A) RNA binding IDA 22658674
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

Inhibitory RNA Products

Flow Cytometry 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
Jensen Localization Image for ISY1 Gene 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 IC 11991638
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

Transcripts for ISY1 Gene

Unigene Clusters for ISY1 Gene

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

Inhibitory RNA Products

Flow Cytometry 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 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
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 and mRNA Expression by UniProt/SwissProt 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
rs1061847 -- 129,129,391(-) TCCCA(A/C)AAAAA intron-variant, utr-variant-3-prime
rs10664499 -- 129,140,359(+) CAAAC(-/TTAG)CTTAC intron-variant
rs10684214 -- 129,140,362(+) ACTTA(-/GTTA)CTTAC intron-variant
rs111336740 -- 129,138,026(+) ATCCC(-/A)AGCAT intron-variant
rs111358522 -- 129,136,980(+) AGCTC(C/T)GCCTC 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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