Human Gene ISY1 (ENST00000393295.8_7) from GENCODE V47lift37
  Description: ISY1 splicing factor homolog, transcript variant 2 (from RefSeq NM_020701.4)
Gencode Transcript: ENST00000393295.8_7
Gencode Gene: ENSG00000240682.10_12
Transcript (Including UTRs)
   Position: hg19 chr3:128,846,258-128,879,906 Size: 33,649 Total Exon Count: 11 Strand: -
Coding Region
   Position: hg19 chr3:128,848,924-128,879,818 Size: 30,895 Coding Exon Count: 11 

Page IndexSequence and LinksUniProtKB CommentsPrimersCTDGene Alleles
RNA-Seq ExpressionRNA StructureProtein StructureOther SpeciesGO AnnotationsmRNA Descriptions
PathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr3:128,846,258-128,879,906)mRNA (may differ from genome)Protein (285 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
HGNCMGIOMIMPubMedReactomeUniProtKB
BioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: ISY1_HUMAN
DESCRIPTION: RecName: Full=Pre-mRNA-splicing factor ISY1 homolog;
FUNCTION: May play a role in pre-mRNA splicing (Potential).
SUBUNIT: Identified in the spliceosome C complex.
SUBCELLULAR LOCATION: Nucleus (Potential).
PTM: Phosphorylated upon DNA damage, probably by ATM or ATR.
SIMILARITY: Belongs to the ISY1 family.
SEQUENCE CAUTION: Sequence=BAA86474.1; Type=Erroneous initiation; Note=Translation N-terminally shortened;

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 0.43 RPKM in Cervix - Ectocervix
Total median expression: 7.33 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -36.1088-0.410 Picture PostScript Text
3' UTR -1191.502666-0.447 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR009360 - Isy1

Pfam Domains:
PF06246 - Isy1-like splicing family

SCOP Domains:
140102 - ISY1 domain-like

ModBase Predicted Comparative 3D Structure on Q9ULR0
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The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details Gene Details  
Gene SorterGene Sorter Gene Sorter  
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-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0003723 RNA binding
GO:0005515 protein binding
GO:0000384 first spliceosomal transesterification activity

Biological Process:
GO:0000350 generation of catalytic spliceosome for second transesterification step
GO:0000389 mRNA 3'-splice site recognition
GO:0000398 mRNA splicing, via spliceosome
GO:0006283 transcription-coupled nucleotide-excision repair
GO:0006397 mRNA processing
GO:0008380 RNA splicing

Cellular Component:
GO:0000974 Prp19 complex
GO:0005634 nucleus
GO:0005654 nucleoplasm
GO:0005681 spliceosomal complex
GO:0071012 catalytic step 1 spliceosome
GO:0071013 catalytic step 2 spliceosome
GO:0071014 post-mRNA release spliceosomal complex
GO:0071020 post-spliceosomal complex


-  Descriptions from all associated GenBank mRNAs
  AB032986 - Homo sapiens KIAA1160 mRNA for KIAA1160 protein.
AB384574 - Synthetic construct DNA, clone: pF1KA1160, Homo sapiens ISY1 gene for pre-mRNA-splicing factor ISY1 homolog, complete cds, without stop codon, in Flexi system.
AK024035 - Homo sapiens cDNA FLJ13973 fis, clone Y79AA1001555.
JD468922 - Sequence 449946 from Patent EP1572962.
JD388662 - Sequence 369686 from Patent EP1572962.
JD068746 - Sequence 49770 from Patent EP1572962.
JD368860 - Sequence 349884 from Patent EP1572962.
JD439819 - Sequence 420843 from Patent EP1572962.
JD474980 - Sequence 456004 from Patent EP1572962.
JD280540 - Sequence 261564 from Patent EP1572962.
JD344121 - Sequence 325145 from Patent EP1572962.
JD388440 - Sequence 369464 from Patent EP1572962.
JD438203 - Sequence 419227 from Patent EP1572962.
DQ579703 - Homo sapiens piRNA piR-47815, complete sequence.
BC018848 - Homo sapiens cDNA clone IMAGE:3141182, **** WARNING: chimeric clone ****.
BC004122 - Homo sapiens KIAA1160 protein, mRNA (cDNA clone IMAGE:3927759), partial cds.
BC007409 - Homo sapiens ISY1 splicing factor homolog (S. cerevisiae), mRNA (cDNA clone MGC:2431 IMAGE:3030303), complete cds.
BC019849 - Homo sapiens ISY1 splicing factor homolog (S. cerevisiae), mRNA (cDNA clone MGC:30028 IMAGE:4521880), complete cds.
JD366284 - Sequence 347308 from Patent EP1572962.
JD534755 - Sequence 515779 from Patent EP1572962.
JD366283 - Sequence 347307 from Patent EP1572962.
JD155806 - Sequence 136830 from Patent EP1572962.
JD534754 - Sequence 515778 from Patent EP1572962.
JD292538 - Sequence 273562 from Patent EP1572962.
JD059714 - Sequence 40738 from Patent EP1572962.
JD092086 - Sequence 73110 from Patent EP1572962.
JD105774 - Sequence 86798 from Patent EP1572962.
JD517385 - Sequence 498409 from Patent EP1572962.
JD149302 - Sequence 130326 from Patent EP1572962.
JD270183 - Sequence 251207 from Patent EP1572962.
JD230268 - Sequence 211292 from Patent EP1572962.
JD144059 - Sequence 125083 from Patent EP1572962.
JD366272 - Sequence 347296 from Patent EP1572962.
JD185292 - Sequence 166316 from Patent EP1572962.
JD257714 - Sequence 238738 from Patent EP1572962.
JD446917 - Sequence 427941 from Patent EP1572962.
JD054995 - Sequence 36019 from Patent EP1572962.
JD041651 - Sequence 22675 from Patent EP1572962.
JD169525 - Sequence 150549 from Patent EP1572962.
JD529330 - Sequence 510354 from Patent EP1572962.
JD430268 - Sequence 411292 from Patent EP1572962.
JD127726 - Sequence 108750 from Patent EP1572962.
JD391640 - Sequence 372664 from Patent EP1572962.
JD084385 - Sequence 65409 from Patent EP1572962.
JD169524 - Sequence 150548 from Patent EP1572962.
JD430267 - Sequence 411291 from Patent EP1572962.
JD238472 - Sequence 219496 from Patent EP1572962.
JD244665 - Sequence 225689 from Patent EP1572962.
JD295913 - Sequence 276937 from Patent EP1572962.
JD545845 - Sequence 526869 from Patent EP1572962.
JD243299 - Sequence 224323 from Patent EP1572962.
JD234943 - Sequence 215967 from Patent EP1572962.
JD225777 - Sequence 206801 from Patent EP1572962.
JD282215 - Sequence 263239 from Patent EP1572962.
JD437796 - Sequence 418820 from Patent EP1572962.
JD534641 - Sequence 515665 from Patent EP1572962.
JD469923 - Sequence 450947 from Patent EP1572962.
JD089067 - Sequence 70091 from Patent EP1572962.
JD508799 - Sequence 489823 from Patent EP1572962.
JD380095 - Sequence 361119 from Patent EP1572962.
JD208705 - Sequence 189729 from Patent EP1572962.
JD494818 - Sequence 475842 from Patent EP1572962.
JD488586 - Sequence 469610 from Patent EP1572962.
JD112102 - Sequence 93126 from Patent EP1572962.
JD158913 - Sequence 139937 from Patent EP1572962.
JD511665 - Sequence 492689 from Patent EP1572962.
JD076535 - Sequence 57559 from Patent EP1572962.
JD293971 - Sequence 274995 from Patent EP1572962.
JD298127 - Sequence 279151 from Patent EP1572962.
JD185609 - Sequence 166633 from Patent EP1572962.
JD049308 - Sequence 30332 from Patent EP1572962.
BC004442 - Homo sapiens ISY1 splicing factor homolog (S. cerevisiae), mRNA (cDNA clone MGC:4036 IMAGE:2820683), complete cds.
DQ591844 - Homo sapiens piRNA piR-58956, complete sequence.
JD106183 - Sequence 87207 from Patent EP1572962.
JD358321 - Sequence 339345 from Patent EP1572962.
JD535053 - Sequence 516077 from Patent EP1572962.
JD147479 - Sequence 128503 from Patent EP1572962.
JD385953 - Sequence 366977 from Patent EP1572962.
KJ894429 - Synthetic construct Homo sapiens clone ccsbBroadEn_03823 ISY1 gene, encodes complete protein.
DQ581885 - Homo sapiens piRNA piR-49997, complete sequence.
DQ593067 - Homo sapiens piRNA piR-33179, complete sequence.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein Q9ULR0 (Reactome details) participates in the following event(s):

R-HSA-72127 Formation of the Spliceosomal B Complex
R-HSA-72143 Lariat Formation and 5'-Splice Site Cleavage
R-HSA-72139 Formation of the active Spliceosomal C (B*) complex
R-HSA-72130 Formation of an intermediate Spliceosomal C (Bact) complex
R-HSA-156661 Formation of Exon Junction Complex
R-HSA-6782004 Assembly of the pre-incision complex in TC-NER
R-HSA-6782069 UVSSA:USP7 deubiquitinates ERCC6
R-HSA-6782131 RNA Pol II backtracking in TC-NER
R-HSA-6782138 ERCC5 and RPA bind TC-NER site
R-HSA-6782211 DNA polymerases delta, epsilon or kappa bind the TC-NER site
R-HSA-6782204 5' incision of damaged DNA strand by ERCC1:ERCC4 in TC-NER
R-HSA-6782224 3' incision by ERCC5 (XPG) in TC-NER
R-HSA-6782227 Ligation of newly synthesized repair patch to incised DNA in TC-NER
R-HSA-6782208 Repair DNA synthesis of ~27-30 bases long patch by POLD, POLE or POLK in TC-NER
R-HSA-6782141 Binding of ERCC1:ERCC4 (ERCC1:XPF) to pre-incision complex in TC-NER
R-HSA-72163 mRNA Splicing - Major Pathway
R-HSA-6781823 Formation of TC-NER Pre-Incision Complex
R-HSA-6781827 Transcription-Coupled Nucleotide Excision Repair (TC-NER)
R-HSA-72172 mRNA Splicing
R-HSA-6782135 Dual incision in TC-NER
R-HSA-6782210 Gap-filling DNA repair synthesis and ligation in TC-NER
R-HSA-5696398 Nucleotide Excision Repair
R-HSA-72203 Processing of Capped Intron-Containing Pre-mRNA
R-HSA-73894 DNA Repair
R-HSA-8953854 Metabolism of RNA

-  Other Names for This Gene
  Alternate Gene Symbols: ENST00000393295.1, ENST00000393295.2, ENST00000393295.3, ENST00000393295.4, ENST00000393295.5, ENST00000393295.6, ENST00000393295.7, ISY1_HUMAN, KIAA1160, NM_020701, Q96IL2, Q9BT05, Q9ULR0, uc318vtb.1, uc318vtb.2
UCSC ID: ENST00000393295.8_7
RefSeq Accession: NM_020701.4
Protein: Q9ULR0 (aka ISY1_HUMAN)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.