Human Gene SRSF9 (ENST00000229390.8_8) from GENCODE V47lift37
  Description: serine and arginine rich splicing factor 9 (from RefSeq NM_003769.3)
Gencode Transcript: ENST00000229390.8_8
Gencode Gene: ENSG00000111786.10_10
Transcript (Including UTRs)
   Position: hg19 chr12:120,899,475-120,907,551 Size: 8,077 Total Exon Count: 4 Strand: -
Coding Region
   Position: hg19 chr12:120,899,822-120,907,412 Size: 7,591 Coding Exon Count: 4 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr12:120,899,475-120,907,551)mRNA (may differ from genome)Protein (221 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
HGNCMalacardsMGIOMIMPubMedReactome
UniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: SRSF9_HUMAN
DESCRIPTION: RecName: Full=Serine/arginine-rich splicing factor 9; AltName: Full=Pre-mRNA-splicing factor SRp30C; AltName: Full=Splicing factor, arginine/serine-rich 9;
FUNCTION: Plays a role in constitutive splicing and can modulate the selection of alternative splice sites. Represses the splicing of MAPT/Tau exon 10.
SUBUNIT: Interacts with KHDRBS3 (By similarity). Interacts with NOL3/ARC/NOP30, NSEP1/YB-1/YB1, SAFB/SAFB1, SRSF6/SFRS6 and TRA2B/SFRS10. May also interact with DUSP11/PIR1.
SUBCELLULAR LOCATION: Nucleus. Note=Cellular stresses such as heat shock may induce localization to discrete nuclear bodies termed SAM68 nuclear bodies (SNBs), HAP bodies, or stress bodies. Numerous splicing factors including SRSF1/SFRS1/SF2, SRSF7/SFRS7, SAFB and KHDRBS1/SAM68 accumulate at these structures, which may participate in the post-transcriptional regulation of mRNAs in stressed cells.
TISSUE SPECIFICITY: Expressed at high levels in the heart, kidney, pancreas and placenta, and at lower levels in the brain, liver, lung and skeletal muscle.
PTM: Extensively phosphorylated on serine residues in the RS domain (By similarity).
SIMILARITY: Belongs to the splicing factor SR family.
SIMILARITY: Contains 2 RRM (RNA recognition motif) domains.

-  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


-  MalaCards Disease Associations
  MalaCards Gene Search: SRSF9
Diseases sorted by gene-association score: spinocerebellar ataxia 31 (2)

-  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: 119.84 RPKM in Cells - EBV-transformed lymphocytes
Total median expression: 2775.54 RPKM



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

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -73.60139-0.529 Picture PostScript Text
3' UTR -80.60347-0.232 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
IPR012677 - Nucleotide-bd_a/b_plait
IPR000504 - RRM_dom

Pfam Domains:
PF00076 - RNA recognition motif. (a.k.a. RRM, RBD, or RNP domain)

SCOP Domains:
54928 - RNA-binding domain, RBD

ModBase Predicted Comparative 3D Structure on Q13242
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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 orthologGenome Browser
Gene DetailsGene Details   Gene Details
Gene SorterGene Sorter   Gene Sorter
 RGDEnsembl  SGD
     Protein Sequence
     Alignment

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0003676 nucleic acid binding
GO:0003723 RNA binding
GO:0005515 protein binding
GO:0019904 protein domain specific binding

Biological Process:
GO:0000398 mRNA splicing, via spliceosome
GO:0006376 mRNA splice site selection
GO:0006397 mRNA processing
GO:0006405 RNA export from nucleus
GO:0006406 mRNA export from nucleus
GO:0008380 RNA splicing
GO:0009636 response to toxic substance
GO:0031124 mRNA 3'-end processing
GO:0043279 response to alkaloid
GO:0048025 negative regulation of mRNA splicing, via spliceosome

Cellular Component:
GO:0005634 nucleus
GO:0005654 nucleoplasm
GO:0005730 nucleolus


-  Descriptions from all associated GenBank mRNAs
  U30825 - Human splicing factor SRp30c mRNA, complete cds.
JD331717 - Sequence 312741 from Patent EP1572962.
AK290644 - Homo sapiens cDNA FLJ76387 complete cds, highly similar to Homo sapiens splicing factor, arginine/serine-rich 9 (SFRS9), mRNA.
BC093971 - Homo sapiens splicing factor, arginine/serine-rich 9, mRNA (cDNA clone MGC:121006 IMAGE:7939816), complete cds.
BC093973 - Homo sapiens splicing factor, arginine/serine-rich 9, mRNA (cDNA clone MGC:121008 IMAGE:7939818), complete cds.
JD418630 - Sequence 399654 from Patent EP1572962.
KJ892596 - Synthetic construct Homo sapiens clone ccsbBroadEn_01990 SRSF9 gene, encodes complete protein.
AB528895 - Synthetic construct DNA, clone: pF1KE0653, Homo sapiens SFRS9 gene for splicing factor, arginine/serine-rich 9, without stop codon, in Flexi system.
AK294254 - Homo sapiens cDNA FLJ56571 complete cds, highly similar to Splicing factor, arginine/serine-rich 9.
AK309778 - Homo sapiens cDNA, FLJ99819.

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

Protein Q13242 (Reactome details) participates in the following event(s):

R-HSA-72107 Formation of the Spliceosomal E complex
R-HSA-75096 Docking of the TAP:EJC Complex with the NPC
R-HSA-72143 Lariat Formation and 5'-Splice Site Cleavage
R-HSA-72139 Formation of the active Spliceosomal C (B*) complex
R-HSA-72124 Formation of the Spliceosomal A Complex
R-HSA-72127 Formation of the Spliceosomal B Complex
R-HSA-72130 Formation of an intermediate Spliceosomal C (Bact) complex
R-HSA-8849157 TREX complex binds spliced, capped mRNA:CBC:EJC cotranscriptionally
R-HSA-72185 mRNA polyadenylation
R-HSA-72180 Cleavage of mRNA at the 3'-end
R-HSA-156661 Formation of Exon Junction Complex
R-HSA-159101 NXF1:NXT1 (TAP:p15) binds capped mRNA:CBC:EJC:TREX (minus DDX39B)
R-HSA-72163 mRNA Splicing - Major Pathway
R-HSA-159236 Transport of Mature mRNA derived from an Intron-Containing Transcript
R-HSA-72187 mRNA 3'-end processing
R-HSA-109688 Cleavage of Growing Transcript in the Termination Region
R-HSA-72172 mRNA Splicing
R-HSA-72202 Transport of Mature Transcript to Cytoplasm
R-HSA-72203 Processing of Capped Intron-Containing Pre-mRNA
R-HSA-73856 RNA Polymerase II Transcription Termination
R-HSA-8953854 Metabolism of RNA
R-HSA-73857 RNA Polymerase II Transcription
R-HSA-74160 Gene expression (Transcription)

-  Other Names for This Gene
  Alternate Gene Symbols: ENST00000229390.1, ENST00000229390.2, ENST00000229390.3, ENST00000229390.4, ENST00000229390.5, ENST00000229390.6, ENST00000229390.7, NM_003769, Q13242, Q52LD1, SFRS9, SRP30C, SRSF9_HUMAN, uc317dqr.1, uc317dqr.2
UCSC ID: ENST00000229390.8_8
RefSeq Accession: NM_003769.3
Protein: Q13242 (aka SRSF9_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.