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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

ISY1 Gene

protein-coding   GIFtS: 48
GCID: GC03M128846

ISY1 splicing factor homolog (S. cerevisiae)

 Explore 1 disease affiliated with
ISY1 via our new
 Human Malady Compendium 
Biological research products
for ISY1
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

Aliases
ISY1 Splicing Factor Homolog (S. Cerevisiae)1 2
KIAA11601 3 5
FSAP332
FSAP332
Functional Spliceosome-Associated Protein 332
Pre-MRNA-Splicing Factor ISY1 Homolog2

External Ids:    HGNC: 292011   Entrez Gene: 574612   Ensembl: ENSG000002406827   OMIM: 6127645   UniProtKB: Q9ULR03   

Export aliases for ISY1 gene to outside databases

Previous GC identifers: GC03M130292 GC03M126234


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

UniProtKB/Swiss-Prot: ISY1_HUMAN, Q9ULR0
Function: May play a role in pre-mRNA splicing (Potential)




(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000003.11  NC_018914.1  NT_005612.16  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the ISY1 gene promoter:
         E2F-3a   E2F-4   Elk-1   E2F-5   AML1a   STAT5A   POU6F1 (c2)   E2F-2   E2F-1   E2F   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidISY1 promoter sequence
   Search SABiosciences Chromatin IP Primers for ISY1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat ISY1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 3q21.3   Ensembl cytogenetic band:  3q21.3   HGNC cytogenetic band: 3q21.3

ISY1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ISY1 gene location

GeneLoc information about chromosome 3         GeneLoc Exon Structure

GeneLoc location for GC03M128846:  view genomic region     (about GC identifiers)

Start:
128,846,258 bp from pter      End:
128,880,136 bp from pter
Size:
33,879 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: ISY1_HUMAN, Q9ULR0 (See protein sequence)
Recommended Name: Pre-mRNA-splicing factor ISY1 homolog  
Size: 285 amino acids; 32992 Da
Subunit: Identified in the spliceosome C complex
Subcellular location: Nucleus (Potential)
Sequence caution: Sequence=BAA86474.1; Type=Erroneous initiation; Note=Translation N-terminally shortened;
Secondary accessions: Q96IL2 Q9BT05
Alternative splicing: 3 isoforms:  Q9ULR0-3   Q9ULR0-1   Q9ULR0-2   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for ISY1: NX_Q9ULR0

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q9ULR0

  • ISY1 Protein expression data from MOPED and PaxDb:    About this image 
    ISY1 Protein Expression
    REFSEQ proteins (2 alternative transcripts): 
    NP_001186398.1  NP_065752.1  

    ENSEMBL proteins: 
     ENSP00000376973   ENSP00000273541   ENSP00000426416   ENSP00000376970   ENSP00000422403  

    Human Recombinant Protein Products for ISY1: 
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    Novus Biologicals ISY1 Protein
    Novus Biologicals ISY1 Lysates
    Browse Sino Biological Recombinant Proteins
    Browse ProSpec Recombinant Proteins
    Uscn Proteins for ISY1

    Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IDA--
    GO:0005730NOT nucleolus IDA--
    GO:0071013catalytic step 2 spliceosome IDA11991638

    ISY1 for ontologies           About GeneDecksing



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    Uscn ELISAs and CLIAs for ISY1


    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    ISY1 for domains           About GeneDecksing

    1 InterPro domain/family:
     IPR009360 Isy1

    Graphical View of Domain Structure for InterPro Entry Q9ULR0

    ProtoNet protein and cluster: Q9ULR0

    UniProtKB/Swiss-Prot: ISY1_HUMAN, Q9ULR0
    Similarity: Belongs to the ISY1 family


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, Sirion Biotech, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, Sirion Biotech, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: ISY1_HUMAN, Q9ULR0
    Function: May play a role in pre-mRNA splicing (Potential)

    Phenotypes:
         2 GenomeRNAi human phenotypes for ISY1:

     Cell cycle / mitosis defect  Increased gamma-H2AX phosphory 

    Animal Models:
       inGenious Targeting Laboratory - Customizable classic, inducible, and humanized mouse model solutions for ISY1 

    miRNA
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    hsa-miR-485-5p hsa-miR-3163 hsa-miR-548p hsa-miR-888 hsa-miR-519e* hsa-miR-211 hsa-miR-515-5p hsa-miR-204
    SwitchGear 3'UTR luciferase reporter plasmidISY1 3' UTR sequence
    Inhib. RNA
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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ISY1


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways  About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1mRNA Splicing - Major Pathway
    Spliceosome0.31

    Pathway sources
    See GeneCards unified pathways
    Show all pathways



    1         Kegg Pathway  (Kegg details for ISY1):
        Spliceosome


    ISY1 for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for ISY1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 18)

    5/19 Interacting proteins for ISY1 (Q9ULR02, 3 ENSP000003769734) via UniProtKB, MINT, STRING, and/or I2D (see all 19)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    XAB2Q9HCS72, 3, ENSP000003511374MINT-8337046 MINT-8331954 I2D: score=1 STRING: ENSP00000351137
    DHX8Q145622, ENSP000002624154MINT-8331569 MINT-8337123 STRING: ENSP00000262415
    SRRM1Q8IYB33, ENSP000003262614I2D: score=1 STRING: ENSP00000326261
    ISY1Q9ULR02MINT-8337112
    CDC40ENSP000003043704STRING: ENSP00000304370
    About this table

    Gene Ontology (GO): 1 biological process term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000398mRNA splicing, via spliceosome IC11991638

    ISY1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for ISY1
    Search CenterWatch for drugs/clinical trials and news about ISY1 

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, Sirion Biotech, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for ISY1 gene (2 alternative transcripts): 
    NM_001199469.1  NM_020701.3  

    Unigene Cluster for ISY1:

    ISY1 splicing factor homolog (S. cerevisiae)
    Hs.512661  [show with all ESTs]
    Unigene Representative Sequence: NM_001204890
    7 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000393295(uc010hsz.2 uc010hta.2 uc003elp.2) ENST00000471497
    ENST00000273541 ENST00000471306 ENST00000496163 ENST00000393292 ENST00000485703


    miRNA
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    8/9 QIAGEN miScript miRNA Assays for microRNAs that regulate ISY1 (see all 9):
    hsa-miR-485-5p hsa-miR-3163 hsa-miR-548p hsa-miR-888 hsa-miR-519e* hsa-miR-211 hsa-miR-515-5p hsa-miR-204
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    Inhib. RNA
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    Clone
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat ISY1
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat ISY1

    Additional cDNA sequence: 

    AK024035.1 BC004122.2 BC004442.1 BC007409.2 BC019849.1 HQ013244.1 

    14 DOTS entries:

    DT.456025  DT.100038093  DT.120862682  DT.92418662  DT.95229920  DT.100798218  DT.100690515  DT.100798230 
    DT.100679481  DT.100689789  DT.100038095  DT.95350688  DT.97851543  DT.120690482 

    24/393 AceView cDNA sequences (see all 393):

    BQ227078 BE909025 AI940191 BQ053774 BU855939 BU154744 BQ069284 BQ068663 
    BM558956 BU859626 BX418603 AL603611 BQ054564 CR596493 BQ051942 AW075243 
    BF219669 BM825702 AY166852 BQ052432 AI937413 AI202059 BX101105 NM_020701 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    ISY1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: TTGACCGGAG
    ISY1 Expression
    About this image
    See ISY1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for ISY1

    SOURCE GeneReport for Unigene cluster: Hs.512661
        SABiosciences Custom PCR Arrays for ISY1

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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ISY1

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of eukaryotes.

    Orthologs for ISY1 gene from 8/25 species (see all 25)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    chicken
    (Gallus gallus)
    Aves ISY16
    Uncharacterized protein
    89(a)
    1 → many
    12(5264146-5273910)
    lizard
    (Anolis carolinensis)
    Reptilia ISY16
    --
    89(a)
    1 → many
    2(159139536-159160530)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.194642 Xenopus laevis transcribed sequence with weak similarity more 76.38(n)    BJ635570.1 
    zebrafish
    (Danio rerio)
    Actinopterygii rab436
    RAB43, member RAS oncogene family
    81(a)
    1 → many
    11(461201-473071)
    fruit fly
    (Drosophila melanogaster)
    Insecta CG96676
    --
    60(a)
    1 → many
    3R(3951009-3952055)
    worm
    (Caenorhabditis elegans)
    Secernentea F53B7.36
    Protein F53B7.3
    46(a)
    1 → many
    V(10999406-11000773)
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons AT3G187906
    pre-mRNA-splicing factor ISY1
    46(a)
    1 → many
    3(6477699-6479548)
    rice
    (Oryza sativa)
    Liliopsida --
    pre-mRNA-splicing factor ISY1, putative, expressed...
    43(a)
    1 → many
    2(23572529-23574978)
            Species with no ortholog for ISY1

    ENSEMBL Gene Tree for ISY1 (if available)
    TreeFam Gene Tree for ISY1 (if available) 

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for ISY1 gene
    ISY1-RAB432  
    1 SIMAP similar gene for ISY1 using alignment to 4 protein entries:     ISY1_HUMAN (see all proteins):
    ISY1-RAB43

    ISY1 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/488 NCBI SNPs in ISY1 are shown (see all 488    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 3 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1147943721,2
    F--128845810(+) GTGCCG/ACTGCC 3 -- int1 ds50011Minor allele frequency- A:0.02WA 118
    rs1126301991,2
    --128845917(+) GCAGGG/ATGAGG 3 -- ds5001 int12Minor allele frequency- A:0.03CSA WA 120
    rs1813835311,2
    --128845978(+) CATGCA/GCAGCA 3 -- int1 ds50010--------
    rs98122021,2
    C,A,H--128846056(+) GGCAGA/TTGGGG 3 -- int1 ds50014Minor allele frequency- T:0.00NS EA 406
    rs1901689491,2
    --128846089(+) GGAGGA/CGGTCC 3 -- ds5001 int10--------
    rs1823491111,2
    --128846216(+) GACTAC/TGAAAA 3 -- ds5001 int10--------
    rs557126911,2
    C--128846618(+) TGCACC/TGAAGG 3 -- ut31 int10--------
    rs1384616521,2
    --128846774(+) AGTGCA/GCGTGT 3 -- int1 ut310--------
    rs1870065181,2
    --128846829(+) CCATCC/TGCACG 3 -- ut31 int10--------
    rs1922955001,2
    --128847018(+) TCACTA/CCTGAG 3 -- ut31 int10--------

    HapMap Linkage Disequilibrium report for ISY1 (128846258 - 128880136 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for ISY1: --

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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

    ISY1 for disorders           About GeneDecksing

    OMIM gene information: 612764    OMIM disorders: --

    1 disease for ISY1:    About MalaCards
    malaria


    Export disorders for ISY1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for ISY1 gene, integrated from 9 sources (see all 14):
    (articles sorted by number of sources associating them with ISY1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. The Isy1p component of the NineTeen complex interacts with the ATPase Prp16p to regulate the fidelity of pre-mRNA splicing. (PubMed id 16103217)1, 3 Villa T. and Guthrie C. (2005)
    2. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    3. Purification and characterization of native spliceosomes suitable for three-dimensional structural analysis. (PubMed id 11991638)1, 2 Jurica M.S.... Moore M.J. (2002)
    4. Characterization of cDNA clones selected by the GeneMark analysis from size-fractionated cDNA libraries from human brain. (PubMed id 10574461)1, 2 Hirosawa M.... Ohara O. (1999)
    5. A census of human soluble protein complexes. (PubMed id 22939629)1 Havugimana P.C....Emili A. (2012)
    6. Initial characterization of the human central proteome. (PubMed id 21269460)2 Burkard T.R.... Colinge J. (2011)
    7. System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation. (PubMed id 21406692)2 Rigbolt K.T....Blagoev B. (2011)
    8. System-wide changes to SUMO modifications in response to heat shock. (PubMed id 19471022)1 Golebiowski F....Hay R.T. (2009)
    9. Lysine acetylation targets protein complexes and co-regulates major cellular functions. (PubMed id 19608861)2 Choudhary C.... Mann M. (2009)
    10. Toward a confocal subcellular atlas of the human proteome. (PubMed id 18029348)1 Barbe L....Andersson-Svahn H. (2008)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 57461 HGNC: 29201 AceView: KIAA1160andRAB43 Ensembl:ENSG00000240682 euGenes: HUgn57461
    ECgene: ISY1 Kegg: 57461 H-InvDB: ISY1

    (According to HUGE)
    About This Section
    HUGE: KIAA1160

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for ISY1 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for ISY1 gene:
    Search GeneIP for patents involving ISY1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, LifeMap BioReagents, and Sirion Biotech, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory)
    About This Section

     
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    GeneCards Homepage - Last full update: 18 Mar 2013 - Incrementals: 21 Mar 2013 , 15 Apr 2013 , 27 Apr 2013 , 14 May 2013

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    VWF
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    von Willebrand factor
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