Human Gene SRSF3 (uc003omj.3)
  Description: Homo sapiens serine/arginine-rich splicing factor 3 (SRSF3), transcript variant 1, mRNA.
RefSeq Summary (NM_003017): The protein encoded by this gene is a member of the serine/arginine (SR)-rich family of pre-mRNA splicing factors, which constitute part of the spliceosome. Each of these factors contains an RNA recognition motif (RRM) for binding RNA and an RS domain for binding other proteins. The RS domain is rich in serine and arginine residues and facilitates interaction between different SR splicing factors. In addition to being critical for mRNA splicing, the SR proteins have also been shown to be involved in mRNA export from the nucleus and in translation. Two transcript variants, one protein-coding and the other non-coding, have been found for this gene. [provided by RefSeq, Sep 2010].
Transcript (Including UTRs)
   Position: hg19 chr6:36,562,090-36,572,244 Size: 10,155 Total Exon Count: 6 Strand: +
Coding Region
   Position: hg19 chr6:36,564,540-36,569,766 Size: 5,227 Coding Exon Count: 5 

Page IndexSequence and LinksUniProtKB CommentsPrimersGenetic AssociationsMalaCards
CTDGene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein Structure
Other SpeciesGO AnnotationsmRNA DescriptionsPathwaysOther NamesModel Information
Methods
Data last updated at UCSC: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr6:36,562,090-36,572,244)mRNA (may differ from genome)Protein (164 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
GeneNetworkH-INVHGNCHPRDLynxMalacards
MGIneXtProtOMIMPubMedReactomeTreefam
UniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: SRSF3_HUMAN
DESCRIPTION: RecName: Full=Serine/arginine-rich splicing factor 3; AltName: Full=Pre-mRNA-splicing factor SRP20; AltName: Full=Splicing factor, arginine/serine-rich 3;
FUNCTION: May be involved in RNA processing in relation with cellular proliferation and/or maturation.
SUBUNIT: Interacts with CPSF6, RBMY1A1 and SREK1/SFRS12.
SUBCELLULAR LOCATION: Nucleus.
PTM: Phosphorylated by CLK1, CLK2, CLK3 and CLK4. Extensively phosphorylated on serine residues in the RS domain (By similarity).
SIMILARITY: Belongs to the splicing factor SR family.
SIMILARITY: Contains 1 RRM (RNA recognition motif) domain.

-  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


-  Genetic Association Studies of Complex Diseases and Disorders
  Genetic Association Database (archive): SRSF3
CDC HuGE Published Literature: SRSF3
Positive Disease Associations: Basophils , Electrocardiography , Heart Function Tests
Related Studies:
  1. Basophils
    , , . [PubMed 0]
  2. Electrocardiography
    Hilma Holm et al. Nature genetics 2010, Several common variants modulate heart rate, PR interval and QRS duration., Nature genetics. [PubMed 20062063]
  3. Heart Function Tests
    Nona Sotoodehnia et al. Nature genetics 2010, Common variants in 22 loci are associated with QRS duration and cardiac ventricular conduction., Nature genetics. [PubMed 21076409]
           more ... click here to view the complete list

-  MalaCards Disease Associations
  MalaCards Gene Search: SRSF3
Diseases sorted by gene-association score: ocular hypertension (3)

-  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: 66.11 RPKM in Cells - EBV-transformed lymphocytes
Total median expression: 1960.69 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 -47.91171-0.280 Picture PostScript Text
3' UTR -660.532478-0.267 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)
PF13893 - RNA recognition motif. (a.k.a. RRM, RBD, or RNP domain)

SCOP Domains:
53850 - Periplasmic binding protein-like II
54928 - RNA-binding domain, RBD

Protein Data Bank (PDB) 3-D Structure
MuPIT help
2I2Y - NMR MuPIT 2I38 - NMR MuPIT


ModBase Predicted Comparative 3D Structure on P84103
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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 orthologGenome BrowserGenome BrowserNo orthologGenome BrowserNo ortholog
Gene DetailsGene Details  Gene Details 
Gene SorterGene Sorter  Gene Sorter 
 RGDEnsembl WormBase 
 Protein SequenceProtein Sequence Protein Sequence 
 AlignmentAlignment Alignment 

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0003676 nucleic acid binding
GO:0003723 RNA binding
GO:0005515 protein binding
GO:0043274 phospholipase binding
GO:1990825 sequence-specific mRNA binding

Biological Process:
GO:0000398 mRNA splicing, via spliceosome
GO:0006397 mRNA processing
GO:0006405 RNA export from nucleus
GO:0006406 mRNA export from nucleus
GO:0008380 RNA splicing
GO:0031124 mRNA 3'-end processing
GO:0048024 regulation of mRNA splicing, via spliceosome
GO:0051028 mRNA transport
GO:1990830 cellular response to leukemia inhibitory factor

Cellular Component:
GO:0005634 nucleus
GO:0005654 nucleoplasm
GO:0005737 cytoplasm
GO:0016607 nuclear speck


-  Descriptions from all associated GenBank mRNAs
  AK312553 - Homo sapiens cDNA, FLJ92926, Homo sapiens splicing factor, arginine/serine-rich 3 (SFRS3), mRNA.
BC000914 - Homo sapiens splicing factor, arginine/serine-rich 3, mRNA (cDNA clone MGC:5205 IMAGE:3049167), complete cds.
BC069018 - Homo sapiens splicing factor, arginine/serine-rich 3, mRNA (cDNA clone MGC:78599 IMAGE:3507371), complete cds.
GQ891426 - Homo sapiens clone HEL-S-147 epididymis secretory sperm binding protein mRNA, complete cds.
AF107405 - Homo sapiens pre-mRNA splicing factor (SFRS3) mRNA, complete cds.
AK310317 - Homo sapiens cDNA, FLJ17359.
AB451352 - Homo sapiens SFRS3 mRNA for splicing factor arginine/serine-rich 3, partial cds, clone: FLJ08018AAAF.
AB528594 - Synthetic construct DNA, clone: pF1KB3105, Homo sapiens SFRS3 gene for splicing factor, arginine/serine-rich 3, without stop codon, in Flexi system.
AB451229 - Homo sapiens SFRS3 mRNA for splicing factor arginine/serine-rich 3, complete cds, clone: FLJ08018AAAN.
KJ892128 - Synthetic construct Homo sapiens clone ccsbBroadEn_01522 SRSF3 gene, encodes complete protein.
BT007017 - Homo sapiens splicing factor, arginine/serine-rich 3 mRNA, complete cds.
L10838 - Homo sapiens SR protein family, pre-mRNA splicing factor (SRp20) mRNA, complete cds.
AK091927 - Homo sapiens cDNA FLJ34608 fis, clone KIDNE2013845.
AX747259 - Sequence 784 from Patent EP1308459.
AK095580 - Homo sapiens cDNA FLJ38261 fis, clone FCBBF3001470.
D28423 - Homo sapiens mRNA for pre-mRNA splicing factor SRp20, 5'UTR region.
AK304097 - Homo sapiens cDNA FLJ52832 complete cds, highly similar to Splicing factor, arginine/serine-rich 3.
JD023964 - Sequence 4988 from Patent EP1572962.
JD349237 - Sequence 330261 from Patent EP1572962.
JD032119 - Sequence 13143 from Patent EP1572962.
LF336828 - JP 2014500723-A/144331: Polycomb-Associated Non-Coding RNAs.
LF336829 - JP 2014500723-A/144332: Polycomb-Associated Non-Coding RNAs.
JD313378 - Sequence 294402 from Patent EP1572962.
JD316511 - Sequence 297535 from Patent EP1572962.
JD297478 - Sequence 278502 from Patent EP1572962.
JD524959 - Sequence 505983 from Patent EP1572962.
JD249189 - Sequence 230213 from Patent EP1572962.
JD348851 - Sequence 329875 from Patent EP1572962.
JD358845 - Sequence 339869 from Patent EP1572962.
JD268547 - Sequence 249571 from Patent EP1572962.
JD069151 - Sequence 50175 from Patent EP1572962.
LF336831 - JP 2014500723-A/144334: Polycomb-Associated Non-Coding RNAs.
JD351385 - Sequence 332409 from Patent EP1572962.
JD203045 - Sequence 184069 from Patent EP1572962.
JD507807 - Sequence 488831 from Patent EP1572962.
JD293565 - Sequence 274589 from Patent EP1572962.
JD490575 - Sequence 471599 from Patent EP1572962.
MA572405 - JP 2018138019-A/144331: Polycomb-Associated Non-Coding RNAs.
MA572406 - JP 2018138019-A/144332: Polycomb-Associated Non-Coding RNAs.
MA572408 - JP 2018138019-A/144334: Polycomb-Associated Non-Coding RNAs.

-  Biochemical and Signaling Pathways
  KEGG - Kyoto Encyclopedia of Genes and Genomes
hsa03040 - Spliceosome

Reactome (by CSHL, EBI, and GO)

Protein P84103 (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: NM_003017, NP_003008, O08831, P23152, P84103, Q5R3K0, SFRS3, SRP20, SRSF3_HUMAN
UCSC ID: uc003omj.3
RefSeq Accession: NM_003017
Protein: P84103 (aka SRSF3_HUMAN)
CCDS: CCDS4823.1

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: NM_003017.4
exon count: 6CDS single in 3' UTR: no RNA size: 3144
ORF size: 495CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 1172.00frame shift in genome: no % Coverage: 100.00
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# strange splices: 0
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.