Human Gene RNPS1 (ENST00000566458.5) from GENCODE V44
  Description: Homo sapiens RNA binding protein with serine rich domain 1 (RNPS1), transcript variant 4, mRNA. (from RefSeq NM_001286626)
RefSeq Summary (NM_001286626): This gene encodes a protein that is part of a post-splicing multiprotein complex involved in both mRNA nuclear export and mRNA surveillance. mRNA surveillance detects exported mRNAs with truncated open reading frames and initiates nonsense-mediated mRNA decay (NMD). When translation ends upstream from the last exon-exon junction, this triggers NMD to degrade mRNAs containing premature stop codons. This protein binds to the mRNA and remains bound after nuclear export, acting as a nucleocytoplasmic shuttling protein. This protein contains many serine residues. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2013].
Gencode Transcript: ENST00000566458.5
Gencode Gene: ENSG00000205937.12
Transcript (Including UTRs)
   Position: hg38 chr16:2,253,117-2,268,397 Size: 15,281 Total Exon Count: 7 Strand: -
Coding Region
   Position: hg38 chr16:2,253,964-2,268,056 Size: 14,093 Coding Exon Count: 7 

Page IndexSequence and LinksUniProtKB CommentsPrimersCTDRNA-Seq Expression
Microarray ExpressionRNA StructureProtein StructureOther SpeciesGO AnnotationsmRNA Descriptions
PathwaysOther NamesMethods
Data last updated at UCSC: 2023-08-18 00:09:47

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr16:2,253,117-2,268,397)mRNA (may differ from genome)Protein (282 aa)
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HGNCHPRDLynxMalacardsMGIneXtProt
OMIMPubMedReactomeUniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: RNPS1_HUMAN
DESCRIPTION: RecName: Full=RNA-binding protein with serine-rich domain 1; AltName: Full=SR-related protein LDC2;
FUNCTION: Component of a splicing-dependent multiprotein exon junction complex (EJC) deposited at splice junction on mRNAs. The EJC is a dynamic structure consisting of a few core proteins and several more peripheral nuclear and cytoplasmic associated factors that join the complex only transiently either during EJC assembly or during subsequent mRNA metabolism. Part of pre- and post- splicing multiprotein mRNP complexes. Enhances the formation of the ATP-dependent A complex of the spliceosome. Involved in both constitutive splicing and, in association with SRP54 and TRA2B/SFRS10, in distinctive modulation of alternative splicing in a substrate-dependent manner. Participates in mRNA 3'-end cleavage. Involved in UPF2-dependent nonsense-mediated decay (NMD) of mRNAs containing premature stop codons. Also mediates increase of mRNA abundance and translational efficiency. Binds spliced mRNA 20-25 nt upstream of exon-exon junctions.
SUBUNIT: Found in a mRNA splicing-dependent exon junction complex (EJC), at least composed of ACIN1, CASC3, EIF4A3, MAGOH, PNN, RBM8A, RNPS1, SAP18 and ALYREF/THOC4. Forms heterodimers with ACIN1. Found in a heterotrimeric complex with ACIN1, RNPS1 and SAP18. Component of the active spliceosome. Associates with polysomes. Found in a mRNA splicing-dependent exon junction complex (EJC) with DEK, RBM8A, RNPS1, SRRM1 and ALYREF/THOC4. Found in a post-splicing complex with NXF1, RBM8A, UPF1, UPF2, UPF3A, UPF3B and RNPS1. Interacts with the cleaved p110 isoform of CDC2L1, CSNK2A1, PNN, SART3, SRP54, SRRM1 and TRA2B/SFRS10.
INTERACTION: Q15020:SART3; NbExp=5; IntAct=EBI-395959, EBI-308619;
SUBCELLULAR LOCATION: Nucleus. Nucleus speckle. Cytoplasm. Note=Nucleocytoplasmic shuttling protein. Colocalizes with the core EJC, ALYREF/THOC4, NXF1 and UAP56 in the nucleus and nuclear speckles.
TISSUE SPECIFICITY: Ubiquitous.
PTM: Phosphorylated on one or more of the four Ser/Thr residues (Ser-43, Thr-49, Ser-52 or Ser-53). Ser-53 phosphorylation site is important for splicing and translation stimulation activity in vitro.
SIMILARITY: Belongs to the splicing factor SR family.
SIMILARITY: Contains 1 RRM (RNA recognition motif) domain.

-  Primer design for this transcript
 

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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

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 35.96 RPKM in Brain - Cerebellar Hemisphere
Total median expression: 775.12 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 -145.00341-0.425 Picture PostScript Text
3' UTR -295.80847-0.349 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)

Protein Data Bank (PDB) 3-D Structure
MuPIT help
4A8X - X-ray MuPIT


ModBase Predicted Comparative 3D Structure on Q15287
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-  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
Genome BrowserGenome BrowserNo orthologNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
MGIRGD    
Protein SequenceProtein Sequence    
AlignmentAlignment    

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0003676 nucleic acid binding
GO:0003723 RNA binding
GO:0003730 mRNA 3'-UTR binding
GO:0005515 protein binding

Biological Process:
GO:0000184 nuclear-transcribed mRNA catabolic process, nonsense-mediated decay
GO:0000381 regulation of alternative mRNA splicing, via spliceosome
GO:0000398 mRNA splicing, via spliceosome
GO:0006351 transcription, DNA-templated
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:0043065 positive regulation of apoptotic process
GO:0048025 negative regulation of mRNA splicing, via spliceosome

Cellular Component:
GO:0005634 nucleus
GO:0005654 nucleoplasm
GO:0005737 cytoplasm
GO:0005829 cytosol
GO:0016607 nuclear speck
GO:0061574 ASAP complex
GO:0035145 exon-exon junction complex


-  Descriptions from all associated GenBank mRNAs
  BC108316 - Homo sapiens RNA binding protein S1, serine-rich domain, mRNA (cDNA clone MGC:117332 IMAGE:6151864), complete cds.
AF274003 - Homo sapiens splicing-related factor RNPS1 (RNPS1) mRNA, complete cds, alternatively spliced.
AF015608 - Homo sapiens SR protein (RNPS1) mRNA, complete cds.
BC001659 - Homo sapiens RNA binding protein S1, serine-rich domain, mRNA (cDNA clone MGC:1125 IMAGE:2959954), complete cds.
BC001838 - Homo sapiens RNA binding protein S1, serine-rich domain, mRNA (cDNA clone MGC:4450 IMAGE:2959954), complete cds.
AK091886 - Homo sapiens cDNA FLJ34567 fis, clone KIDNE2007954.
AK092131 - Homo sapiens cDNA FLJ34812 fis, clone NT2NE2007365.
AX747369 - Sequence 894 from Patent EP1308459.
L37368 - Human (clone E5.1) RNA-binding protein mRNA, complete cds.
JD288130 - Sequence 269154 from Patent EP1572962.
JD422489 - Sequence 403513 from Patent EP1572962.
JD541858 - Sequence 522882 from Patent EP1572962.
JD168519 - Sequence 149543 from Patent EP1572962.
JD451802 - Sequence 432826 from Patent EP1572962.
JD500939 - Sequence 481963 from Patent EP1572962.
AK316132 - Homo sapiens cDNA, FLJ79031 complete cds, highly similar to RNA-binding protein with serine-rich domain 1.
JD526102 - Sequence 507126 from Patent EP1572962.
AF247662 - Homo sapiens SR-related protein LD2 mRNA, partial cds.
JD338742 - Sequence 319766 from Patent EP1572962.
JD338743 - Sequence 319767 from Patent EP1572962.
JD470966 - Sequence 451990 from Patent EP1572962.
JD039115 - Sequence 20139 from Patent EP1572962.
JD454198 - Sequence 435222 from Patent EP1572962.
JD476404 - Sequence 457428 from Patent EP1572962.
JD476405 - Sequence 457429 from Patent EP1572962.
JD482396 - Sequence 463420 from Patent EP1572962.
AK293343 - Homo sapiens cDNA FLJ51689 complete cds, highly similar to RNA-binding protein with serine-rich domain 1.
JD165573 - Sequence 146597 from Patent EP1572962.
JD396369 - Sequence 377393 from Patent EP1572962.
AK303100 - Homo sapiens cDNA FLJ51419 complete cds, highly similar to RNA-binding protein with serine-rich domain 1.
JD054877 - Sequence 35901 from Patent EP1572962.
JD068622 - Sequence 49646 from Patent EP1572962.
JD068623 - Sequence 49647 from Patent EP1572962.
AK289955 - Homo sapiens cDNA FLJ75076 complete cds, highly similar to Homo sapiens RNA binding protein S1, serine-rich domain (RNPS1), transcript variant 2, mRNA.
JD258709 - Sequence 239733 from Patent EP1572962.
AB445101 - Homo sapiens rnps1 mRNA for RNA binding protein S1, complete cds.
EU176344 - Synthetic construct Homo sapiens clone IMAGE:100006453; FLH185154.01X; RZPDo839B09251D RNA binding protein S1, serine-rich domain (RNPS1) gene, encodes complete protein.
KJ893166 - Synthetic construct Homo sapiens clone ccsbBroadEn_02560 RNPS1 gene, encodes complete protein.
DQ895514 - Synthetic construct Homo sapiens clone IMAGE:100009974; FLH185147.01L; RZPDo839F10145D RNA binding protein S1, serine-rich domain (RNPS1) gene, encodes complete protein.
AB464183 - Synthetic construct DNA, clone: pF1KB8281, Homo sapiens RNPS1 gene for RNA binding protein S1, serine-rich domain, without stop codon, in Flexi system.
DQ574166 - Homo sapiens piRNA piR-42278, complete sequence.
DQ598424 - Homo sapiens piRNA piR-36490, complete sequence.
JD068591 - Sequence 49615 from Patent EP1572962.
JD479472 - Sequence 460496 from Patent EP1572962.
JD462764 - Sequence 443788 from Patent EP1572962.

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

Protein Q15287 (Reactome details) participates in the following event(s):

R-HSA-72107 Formation of the Spliceosomal E complex
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-156661 Formation of Exon Junction 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-75096 Docking of the TAP:EJC Complex with the NPC
R-HSA-159101 NXF1:NXT1 (TAP:p15) binds capped mRNA:CBC:EJC:TREX (minus DDX39B)
R-HSA-927832 UPF1 binds an mRNP with a termination codon preceding an Exon Junction Complex
R-HSA-75098 mRNP complex dissociates from cytosolic face of NPC
R-HSA-927889 SMG1 phosphorylates UPF1 (enhanced by Exon Junction Complex)
R-HSA-72163 mRNA Splicing - Major Pathway
R-HSA-72172 mRNA Splicing
R-HSA-9010553 Regulation of expression of SLITs and ROBOs
R-HSA-72187 mRNA 3'-end processing
R-HSA-109688 Cleavage of Growing Transcript in the Termination Region
R-HSA-159236 Transport of Mature mRNA derived from an Intron-Containing Transcript
R-HSA-72203 Processing of Capped Intron-Containing Pre-mRNA
R-HSA-975957 Nonsense Mediated Decay (NMD) enhanced by the Exon Junction Complex (EJC)
R-HSA-376176 Signaling by ROBO receptors
R-HSA-73856 RNA Polymerase II Transcription Termination
R-HSA-72202 Transport of Mature Transcript to Cytoplasm
R-HSA-8953854 Metabolism of RNA
R-HSA-927802 Nonsense-Mediated Decay (NMD)
R-HSA-422475 Axon guidance
R-HSA-73857 RNA Polymerase II Transcription
R-HSA-1266738 Developmental Biology
R-HSA-74160 Gene expression (Transcription)

-  Other Names for This Gene
  Alternate Gene Symbols: A8K1P0, B4DDU8, B4DZU7, B7ZA17, ENST00000566458.1, ENST00000566458.2, ENST00000566458.3, ENST00000566458.4, LDC2, NM_001286626, O75308, Q15287, Q32P25, Q8WY42, Q9NYG3, RNPS1_HUMAN, uc002cpx.1, uc002cpx.2, uc002cpx.3, uc002cpx.4, uc002cpx.5
UCSC ID: ENST00000566458.5
RefSeq Accession: NM_001286626
Protein: Q15287 (aka RNPS1_HUMAN)
CCDS: CCDS66907.1

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