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Aliases for RNPS1 Gene

Aliases for RNPS1 Gene

  • RNA Binding Protein With Serine Rich Domain 1 2 3 5
  • RNA-Binding Protein S1, Serine-Rich Domain 2 3
  • SR-Related Protein LDC2 3 4
  • RNA-Binding Protein With Serine-Rich Domain 1 3
  • RNA Binding Protein With Serine-Rich Domain 3
  • SR Protein 3
  • E5.1 3
  • LDC2 4

External Ids for RNPS1 Gene

Previous GeneCards Identifiers for RNPS1 Gene

  • GC16P002468
  • GC16M002328
  • GC16M002244
  • GC16M002245
  • GC16M002246
  • GC16M002168
  • GC16M002247
  • GC16M002303
  • GC16M002230

Summaries for RNPS1 Gene

Entrez Gene Summary for RNPS1 Gene

  • 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]

GeneCards Summary for RNPS1 Gene

RNPS1 (RNA Binding Protein With Serine Rich Domain 1) is a Protein Coding gene. Among its related pathways are mRNA surveillance pathway and Formation of HIV elongation complex in the absence of HIV Tat. GO annotations related to this gene include nucleic acid binding and RNA binding.

UniProtKB/Swiss-Prot for RNPS1 Gene

  • Part of pre- and post-splicing multiprotein mRNP complexes. Auxiliary component of the splicing-dependent multiprotein exon junction complex (EJC) deposited at splice junction on mRNAs. The EJC is a dynamic structure consisting of core proteins and several peripheral nuclear and cytoplasmic associated factors that join the complex only transiently either during EJC assembly or during subsequent mRNA metabolism. Component of the ASAP and PSAP complexes which bind RNA in a sequence-independent manner and are proposed to be recruited to the EJC prior to or during the splicing process and to regulate specific excision of introns in specific transcription subsets. The ASAP complex can inhibit RNA processing during in vitro splicing reactions. The ASAP complex promotes apoptosis and is disassembled after induction of apoptosis. 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. Involved in the splicing modulation of BCL2L1/Bcl-X (and probably other apoptotic genes); specifically inhibits formation of proapoptotic isoforms such as Bcl-X(S); the activity is different from the established EJC assembly and function. 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.

Gene Wiki entry for RNPS1 Gene

Additional gene information for RNPS1 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for RNPS1 Gene

Genomics for RNPS1 Gene

Regulatory Elements for RNPS1 Gene

Enhancers for RNPS1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH16H003148 1.7 Ensembl ENCODE dbSUPER 22.4 -882.8 -882774 4 MLX ZFP64 YY1 SLC30A9 ZNF143 SP3 NFYC ZC3H11A MEF2D SSRP1 CREBBP E4F1 ZNF263 THOC6 ZNF597 ZNF213-AS1 SRRM2 ZNF205 AMDHD2 ENSG00000261938
GH16H003156 1.7 FANTOM5 ENCODE dbSUPER 22.4 -890.4 -890382 3 HDGF ARNT ARID4B SIN3A DMAP1 ZNF2 ZBTB7B YY1 ZNF766 ZNF207 ZNF75A ZNF213-AS1 ZNF205 E4F1 CREBBP ENSG00000261938 RNPS1 PDPK2P LOC652276 MTCO1P28
GH16H003182 1.4 ENCODE dbSUPER 22.4 -915.1 -915059 1 PKNOX1 ARNT ARID4B SIN3A ZNF2 FOS ZHX2 MXD4 REST ZNF592 ZNF75A ZNF213-AS1 ENSG00000261938 E4F1 CREBBP RNPS1 PDPK2P ZNF597 LOC652276 ZSCAN32
GH16H002266 1.2 ENCODE 21.4 +0.2 201 3 HDGF PKNOX1 ARNT ZFP64 ARID4B SIN3A DMAP1 ZNF2 YY1 ZNF143 ZNF263 UBE2I UNKL ENSG00000261505 TSC2 E4F1 ENSG00000260051 TBL3 CRAMP1 AMDHD2
GH16H003171 1.5 Ensembl ENCODE dbSUPER 14.1 -903.6 -903589 1 PKNOX1 ATF1 ZNF2 GTF3C2 RUNX3 SP3 TSHZ1 SSRP1 GLIS1 ETV4 ZNF205 CREBBP E4F1 SRRM2 THOC6 LOC105371055 RNPS1 ENSG00000261938 ZNF597 ZNF263
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around RNPS1 on UCSC Golden Path with GeneCards custom track

Promoters for RNPS1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000082465 312 2601 HDGF PKNOX1 ARNT ZFP64 ARID4B SIN3A FEZF1 DMAP1 ZNF2 YY1

Genomic Location for RNPS1 Gene

Chromosome:
16
Start:
2,253,116 bp from pter
End:
2,268,412 bp from pter
Size:
15,297 bases
Orientation:
Minus strand

Genomic View for RNPS1 Gene

Genes around RNPS1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
RNPS1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for RNPS1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for RNPS1 Gene

Proteins for RNPS1 Gene

  • Protein details for RNPS1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q15287-RNPS1_HUMAN
    Recommended name:
    RNA-binding protein with serine-rich domain 1
    Protein Accession:
    Q15287
    Secondary Accessions:
    • A8K1P0
    • B4DDU8
    • B4DZU7
    • B7ZA17
    • O75308
    • Q32P25
    • Q8WY42
    • Q9NYG3

    Protein attributes for RNPS1 Gene

    Size:
    305 amino acids
    Molecular mass:
    34208 Da
    Quaternary structure:
    • Found in mRNA splicing-dependent exon junction complexes (EJC). Found in a post-splicing complex with NXF1, RBM8A, UPF1, UPF2, UPF3A, UPF3B and RNPS1. Component of the heterotrimeric ASAP (apoptosis- and splicing-associated protein) and PSAP complexes consisting of RNPS1, SAP18 and either ACIN1 or PNN, respectively; the ASAP and PSAP complexes probably are formed mutually exclusive. Component of the active spliceosome. Associates with polysomes. Interacts with the cleaved p110 isoform of CDC2L1, CSNK2A1, PNN, SART3, SRP54, SRRM1 and TRA2B/SFRS10.

    Three dimensional structures from OCA and Proteopedia for RNPS1 Gene

    Alternative splice isoforms for RNPS1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for RNPS1 Gene

Post-translational modifications for RNPS1 Gene

  • 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.
  • Ubiquitination at Lys203
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for RNPS1 Gene

Domains & Families for RNPS1 Gene

Gene Families for RNPS1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins
  • Transporters

Protein Domains for RNPS1 Gene

Suggested Antigen Peptide Sequences for RNPS1 Gene

Graphical View of Domain Structure for InterPro Entry

Q15287

UniProtKB/Swiss-Prot:

RNPS1_HUMAN :
  • The RRM domain is required for the formation of the ASAP complex.
  • Belongs to the splicing factor SR family.
Domain:
  • The RRM domain is required for the formation of the ASAP complex.
Family:
  • Belongs to the splicing factor SR family.
genes like me logo Genes that share domains with RNPS1: view

Function for RNPS1 Gene

Molecular function for RNPS1 Gene

UniProtKB/Swiss-Prot Function:
Part of pre- and post-splicing multiprotein mRNP complexes. Auxiliary component of the splicing-dependent multiprotein exon junction complex (EJC) deposited at splice junction on mRNAs. The EJC is a dynamic structure consisting of core proteins and several peripheral nuclear and cytoplasmic associated factors that join the complex only transiently either during EJC assembly or during subsequent mRNA metabolism. Component of the ASAP and PSAP complexes which bind RNA in a sequence-independent manner and are proposed to be recruited to the EJC prior to or during the splicing process and to regulate specific excision of introns in specific transcription subsets. The ASAP complex can inhibit RNA processing during in vitro splicing reactions. The ASAP complex promotes apoptosis and is disassembled after induction of apoptosis. 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. Involved in the splicing modulation of BCL2L1/Bcl-X (and probably other apoptotic genes); specifically inhibits formation of proapoptotic isoforms such as Bcl-X(S); the activity is different from the established EJC assembly and function. 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.

Phenotypes From GWAS Catalog for RNPS1 Gene

Gene Ontology (GO) - Molecular Function for RNPS1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003676 nucleic acid binding IEA --
GO:0003723 NOT RNA binding IEA,IDA 22388736
GO:0003730 mRNA 3-UTR binding IDA 11546874
GO:0005515 protein binding IPI 11477570
genes like me logo Genes that share ontologies with RNPS1: view
genes like me logo Genes that share phenotypes with RNPS1: view

Animal Model Products

CRISPR Products

miRNA for RNPS1 Gene

miRTarBase miRNAs that target RNPS1

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for RNPS1
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for RNPS1 Gene

Localization for RNPS1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for RNPS1 Gene

Nucleus. Nucleus speckle. Cytoplasm. Note=Nucleocytoplasmic shuttling protein. Colocalizes with the core EJC, ALYREF/THOC4, NXF1 and UAP56 in the nucleus and nuclear speckles.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for RNPS1 gene
Compartment Confidence
nucleus 5
cytosol 5

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for RNPS1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus TAS,IDA 11546874
GO:0005654 nucleoplasm IDA,TAS --
GO:0005737 cytoplasm IDA,IEA 11546874
GO:0005829 cytosol TAS --
GO:0016607 nuclear speck IEA --
genes like me logo Genes that share ontologies with RNPS1: view

Pathways & Interactions for RNPS1 Gene

genes like me logo Genes that share pathways with RNPS1: view

Pathways by source for RNPS1 Gene

Gene Ontology (GO) - Biological Process for RNPS1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000184 nuclear-transcribed mRNA catabolic process, nonsense-mediated decay TAS --
GO:0000381 regulation of alternative mRNA splicing, via spliceosome IMP 22203037
GO:0000398 mRNA splicing, via spliceosome TAS --
GO:0006351 transcription, DNA-templated TAS 9580558
GO:0006369 termination of RNA polymerase II transcription TAS --
genes like me logo Genes that share ontologies with RNPS1: view

No data available for SIGNOR curated interactions for RNPS1 Gene

Drugs & Compounds for RNPS1 Gene

(4) Drugs for RNPS1 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
genes like me logo Genes that share compounds with RNPS1: view

Transcripts for RNPS1 Gene

Unigene Clusters for RNPS1 Gene

RNA binding protein S1, serine-rich domain:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for RNPS1
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

Alternative Splicing Database (ASD) splice patterns (SP) for RNPS1 Gene

No ASD Table

Relevant External Links for RNPS1 Gene

GeneLoc Exon Structure for
RNPS1
ECgene alternative splicing isoforms for
RNPS1

Expression for RNPS1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for RNPS1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for RNPS1 Gene

This gene is overexpressed in Peripheral blood mononuclear cells (9.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for RNPS1 Gene



Protein tissue co-expression partners for RNPS1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of RNPS1 Gene:

RNPS1

SOURCE GeneReport for Unigene cluster for RNPS1 Gene:

Hs.355643

mRNA Expression by UniProt/SwissProt for RNPS1 Gene:

Q15287-RNPS1_HUMAN
Tissue specificity: Ubiquitous.

Evidence on tissue expression from TISSUES for RNPS1 Gene

  • Nervous system(4.9)
  • Muscle(4.4)
  • Skin(4.4)
  • Kidney(4.3)
  • Lung(3)
  • Intestine(2.5)
  • Pancreas(2.1)
genes like me logo Genes that share expression patterns with RNPS1: view

Primer Products

No data available for mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for RNPS1 Gene

Orthologs for RNPS1 Gene

This gene was present in the common ancestor of animals.

Orthologs for RNPS1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia RNPS1 33 34
  • 99.67 (n)
oppossum
(Monodelphis domestica)
Mammalia RNPS1 34
  • 98 (a)
OneToOne
dog
(Canis familiaris)
Mammalia RNPS1 33 34
  • 92.57 (n)
cow
(Bos Taurus)
Mammalia RNPS1 33 34
  • 89.62 (n)
mouse
(Mus musculus)
Mammalia Rnps1 33 16 34
  • 89.29 (n)
rat
(Rattus norvegicus)
Mammalia Rnps1 33
  • 88.85 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia RNPS1 34
  • 86 (a)
OneToOne
chicken
(Gallus gallus)
Aves RNPS1 33 34
  • 82.13 (n)
lizard
(Anolis carolinensis)
Reptilia RNPS1 34
  • 86 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia rnps1 33
  • 63.41 (n)
Str.324 33
zebrafish
(Danio rerio)
Actinopterygii rnps1 33 34
  • 63.85 (n)
wufa19a11 33
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.13826 33
fruit fly
(Drosophila melanogaster)
Insecta RnpS1 34
  • 19 (a)
OneToMany
CG34334 34
  • 10 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea rnp-5 34
  • 21 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea CSA.2775 34
  • 29 (a)
OneToOne
Species where no ortholog for RNPS1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for RNPS1 Gene

ENSEMBL:
Gene Tree for RNPS1 (if available)
TreeFam:
Gene Tree for RNPS1 (if available)

Paralogs for RNPS1 Gene

Pseudogenes.org Pseudogenes for RNPS1 Gene

genes like me logo Genes that share paralogs with RNPS1: view

No data available for Paralogs for RNPS1 Gene

Variants for RNPS1 Gene

Sequence variations from dbSNP and Humsavar for RNPS1 Gene

SNP ID Clin Chr 16 pos Sequence Context AA Info Type
rs1000096797 -- 2,256,489(+) GGAGG(A/G)GGAGG intron-variant
rs1000129287 -- 2,256,689(+) CAGGC(-/A)AACAG intron-variant
rs1000153802 -- 2,254,640(+) GTTGG(A/C)CAGGA intron-variant
rs1000657372 -- 2,270,200(+) AACCT(A/G)GAGCC intron-variant, upstream-variant-2KB
rs1000745633 -- 2,268,920(+) GGAGC(-/GT)GTGTG intron-variant, upstream-variant-2KB

Structural Variations from Database of Genomic Variants (DGV) for RNPS1 Gene

Variant ID Type Subtype PubMed ID
dgv4859n54 CNV loss 21841781
dgv4863n54 CNV loss 21841781
esv2422427 CNV duplication 17116639
nsv1052260 CNV gain 25217958
nsv457351 CNV loss 19166990
nsv457353 CNV loss 19166990
nsv471072 CNV loss 18288195
nsv571201 CNV loss 21841781
nsv952902 CNV deletion 24416366

Variation tolerance for RNPS1 Gene

Residual Variation Intolerance Score: 18.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.15; 23.26% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for RNPS1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
RNPS1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for RNPS1 Gene

Disorders for RNPS1 Gene

Relevant External Links for RNPS1

Genetic Association Database (GAD)
RNPS1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
RNPS1

No disorders were found for RNPS1 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for RNPS1 Gene

Publications for RNPS1 Gene

  1. Activation of pre-mRNA splicing by human RNPS1 is regulated by CK2 phosphorylation. (PMID: 15684395) Trembley JH … Mayeda A (Molecular and cellular biology 2005) 3 4 22 60
  2. Splicing enhances translation in mammalian cells: an additional function of the exon junction complex. (PMID: 14752011) Nott A … Moore MJ (Genes & development 2004) 3 4 22 60
  3. Human RNPS1 and its associated factors: a versatile alternative pre-mRNA splicing regulator in vivo. (PMID: 14729963) Sakashita E … Mayeda A (Molecular and cellular biology 2004) 3 4 22 60
  4. A simple whole cell lysate system for in vitro splicing reveals a stepwise assembly of the exon-exon junction complex. (PMID: 14625303) Kataoka N … Dreyfuss G (The Journal of biological chemistry 2004) 3 4 22 60
  5. Nuclear Pnn/DRS protein binds to spliced mRNPs and participates in mRNA processing and export via interaction with RNPS1. (PMID: 14517304) Li C … Tarn WY (Molecular and cellular biology 2003) 3 4 22 60

Products for RNPS1 Gene

Sources for RNPS1 Gene

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