Human Gene RPS4X (uc004ear.3)
  Description: Homo sapiens ribosomal protein S4, X-linked (RPS4X), mRNA.
RefSeq Summary (NM_001007): Cytoplasmic ribosomes, organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes ribosomal protein S4, a component of the 40S subunit. Ribosomal protein S4 is the only ribosomal protein known to be encoded by more than one gene, namely this gene and ribosomal protein S4, Y-linked (RPS4Y). The 2 isoforms encoded by these genes are not identical, but are functionally equivalent. Ribosomal protein S4 belongs to the S4E family of ribosomal proteins. This gene is not subject to X-inactivation. It has been suggested that haploinsufficiency of the ribosomal protein S4 genes plays a role in Turner syndrome; however, this hypothesis is controversial. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. [provided by RefSeq, Jul 2008]. Sequence Note: The RefSeq transcript and protein were derived from genomic sequence to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on alignments.
Transcript (Including UTRs)
   Position: hg19 chrX:71,492,453-71,497,141 Size: 4,689 Total Exon Count: 7 Strand: -
Coding Region
   Position: hg19 chrX:71,492,521-71,497,045 Size: 4,525 Coding Exon Count: 7 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chrX:71,492,453-71,497,141)mRNA (may differ from genome)Protein (263 aa)
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UniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: RS4X_HUMAN
DESCRIPTION: RecName: Full=40S ribosomal protein S4, X isoform; AltName: Full=SCR10; AltName: Full=Single copy abundant mRNA protein;
SUBUNIT: Identified in a mRNP granule complex, at least composed of ACTB, ACTN4, DHX9, ERG, HNRNPA1, HNRNPA2B1, HNRNPAB, HNRNPD, HNRNPL, HNRNPR, HNRNPU, HSPA1, HSPA8, IGF2BP1, ILF2, ILF3, NCBP1, NCL, PABPC1, PABPC4, PABPN1, RPLP0, RPS3, RPS3A, RPS4X, RPS8, RPS9, SYNCRIP, TROVE2, YBX1 and untranslated mRNAs.
SUBCELLULAR LOCATION: Cytoplasm. Note=Localized in cytoplasmic mRNP granules containing untranslated mRNAs.
SIMILARITY: Belongs to the ribosomal protein S4e family.
SIMILARITY: Contains 1 S4 RNA-binding 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


-  MalaCards Disease Associations
  MalaCards Gene Search: RPS4X
Diseases sorted by gene-association score: turner syndrome (16)

-  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: 844.29 RPKM in Ovary
Total median expression: 14778.93 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 -29.2996-0.305 Picture PostScript Text
3' UTR -8.0068-0.118 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
IPR005824 - KOW
IPR000876 - Ribosomal_S4e
IPR013845 - Ribosomal_S4e_central
IPR013843 - Ribosomal_S4e_N
IPR018199 - Ribosomal_S4e_N_CS
IPR002942 - S4_RNA-bd

Pfam Domains:
PF00467 - KOW motif
PF00900 - Ribosomal family S4e
PF01479 - S4 domain
PF08071 - RS4NT (NUC023) domain
PF16121 - 40S ribosomal protein S4 C-terminus

ModBase Predicted Comparative 3D Structure on P62701
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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 orthologGenome BrowserGenome BrowserGenome BrowserGenome Browser
   Gene DetailsGene DetailsGene Details
   Gene SorterGene SorterGene Sorter
  EnsemblFlyBaseWormBaseSGD
  Protein SequenceProtein SequenceProtein SequenceProtein Sequence
  AlignmentAlignmentAlignmentAlignment

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0003723 RNA binding
GO:0003735 structural constituent of ribosome
GO:0005515 protein binding
GO:0019843 rRNA binding

Biological Process:
GO:0000184 nuclear-transcribed mRNA catabolic process, nonsense-mediated decay
GO:0006412 translation
GO:0006413 translational initiation
GO:0006614 SRP-dependent cotranslational protein targeting to membrane
GO:0007275 multicellular organism development
GO:0008284 positive regulation of cell proliferation
GO:0045727 positive regulation of translation

Cellular Component:
GO:0005622 intracellular
GO:0005654 nucleoplasm
GO:0005737 cytoplasm
GO:0005829 cytosol
GO:0005840 ribosome
GO:0005844 polysome
GO:0005925 focal adhesion
GO:0015935 small ribosomal subunit
GO:0016020 membrane
GO:0022627 cytosolic small ribosomal subunit
GO:0036464 cytoplasmic ribonucleoprotein granule
GO:0070062 extracellular exosome
GO:1990904 ribonucleoprotein complex


-  Descriptions from all associated GenBank mRNAs
  BC000472 - Homo sapiens ribosomal protein S4, X-linked, mRNA (cDNA clone MGC:8636 IMAGE:2961540), complete cds.
AK222479 - Homo sapiens mRNA for ribosomal protein S4, X-linked X isoform variant, clone: adKA01615.
M22146 - Human scar protein mRNA, complete cds.
BC007308 - Homo sapiens ribosomal protein S4, X-linked, mRNA (cDNA clone IMAGE:3352599), partial cds.
M58458 - Human ribosomal protein S4 (RPS4X) isoform mRNA, complete cds.
JD052965 - Sequence 33989 from Patent EP1572962.
AK311745 - Homo sapiens cDNA, FLJ92004, Homo sapiens ribosomal protein S4, X-linked (RPS4X), mRNA.
CU675605 - Synthetic construct Homo sapiens gateway clone IMAGE:100016758 5' read RPS4X mRNA.
KJ901714 - Synthetic construct Homo sapiens clone ccsbBroadEn_11108 RPS4X gene, encodes complete protein.
DQ893596 - Synthetic construct clone IMAGE:100006226; FLH180474.01X; RZPDo839C08134D ribosomal protein S4, X-linked (RPS4X) gene, encodes complete protein.
DQ894924 - Synthetic construct Homo sapiens clone IMAGE:100009384; FLH180470.01L; RZPDo839C08133D ribosomal protein S4, X-linked (RPS4X) gene, encodes complete protein.
BC100903 - Homo sapiens ribosomal protein S4, X-linked, mRNA (cDNA clone MGC:119098 IMAGE:40003600), complete cds.
BC100904 - Homo sapiens ribosomal protein S4, X-linked, mRNA (cDNA clone MGC:119099 IMAGE:40003601), complete cds.
CR456735 - Homo sapiens full open reading frame cDNA clone RZPDo834G036D for gene RPS4X, ribosomal protein S4, X-linked; complete cds, incl. stopcodon.
KJ897498 - Synthetic construct Homo sapiens clone ccsbBroadEn_06892 RPS4X gene, encodes complete protein.
JD228951 - Sequence 209975 from Patent EP1572962.
AK293663 - Homo sapiens cDNA FLJ57716 complete cds, highly similar to 40S ribosomal protein S4, X isoform.
Z70767 - H.sapiens mRNA for ribosomal protein S4.
JD225115 - Sequence 206139 from Patent EP1572962.
D28359 - Homo sapiens mRNA for ribosomal protein S4X isoform, 5'UTR region.

-  Biochemical and Signaling Pathways
  KEGG - Kyoto Encyclopedia of Genes and Genomes
hsa03010 - Ribosome

Reactome (by CSHL, EBI, and GO)

Protein P62701 (Reactome details) participates in the following event(s):

R-HSA-72676 eIF3 and eIF1A bind to the 40S subunit
R-HSA-72673 Release of 40S and 60S subunits from the 80S ribosome
R-HSA-72672 The 60S subunit joins the translation initiation complex
R-HSA-72619 eIF2:GTP is hydrolyzed, eIFs are released
R-HSA-72691 Formation of the 43S pre-initiation complex
R-HSA-156808 Formation of translation initiation complexes yielding circularized Ceruloplasmin mRNA in a 'closed-loop' conformation
R-HSA-157849 Formation of translation initiation complexes containing mRNA that does not circularize
R-HSA-72671 eIF5B:GTP is hydrolyzed and released
R-HSA-156907 Aminoacyl-tRNA binds to the ribosome at the A-site
R-HSA-2408529 Sec-tRNA(Sec):EEFSEC:GTP binds to 80S Ribosome
R-HSA-141691 GTP bound eRF3:eRF1 complex binds the peptidyl tRNA:mRNA:80S Ribosome complex
R-HSA-156915 Translocation of ribosome by 3 bases in the 3' direction
R-HSA-141671 Polypeptide release from the eRF3-GDP:eRF1:mRNA:80S Ribosome complex
R-HSA-156912 Peptide transfer from P-site tRNA to the A-site tRNA
R-HSA-927832 UPF1 binds an mRNP with a termination codon preceding an Exon Junction Complex
R-HSA-927789 Formation of UPF1:eRF3 complex on mRNA with a premature termination codon and no Exon Junction Complex
R-HSA-1799332 Nascent polypeptide:mRNA:ribosome complex binds signal recognition particle (SRP)
R-HSA-156923 Hydrolysis of eEF1A:GTP
R-HSA-72621 Ribosomal scanning
R-HSA-72697 Start codon recognition
R-HSA-156823 Association of phospho-L13a with GAIT element of Ceruloplasmin mRNA
R-HSA-5333615 80S:Met-tRNAi:mRNA:SECISBP2:Sec-tRNA(Sec):EEFSEC:GTP is hydrolysed to 80S:Met-tRNAi:mRNA:SECISBP2:Sec and EEFSEC:GDP by EEFSEC
R-HSA-141673 GTP Hydrolysis by eRF3 bound to the eRF1:mRNA:polypeptide:80S Ribosome complex
R-HSA-927889 SMG1 phosphorylates UPF1 (enhanced by Exon Junction Complex)
R-HSA-1799329 Signal peptidase hydrolyzes signal peptide from ribosome-associated nascent protein
R-HSA-1799330 The SRP receptor binds the SRP:nascent peptide:ribosome complex
R-HSA-1799326 Signal-containing nascent peptide translocates to endoplasmic reticulum
R-HSA-72689 Formation of a pool of free 40S subunits
R-HSA-6791226 Major pathway of rRNA processing in the nucleolus and cytosol
R-HSA-1799339 SRP-dependent cotranslational protein targeting to membrane
R-HSA-9010553 Regulation of expression of SLITs and ROBOs
R-HSA-72706 GTP hydrolysis and joining of the 60S ribosomal subunit
R-HSA-72695 Formation of the ternary complex, and subsequently, the 43S complex
R-HSA-72649 Translation initiation complex formation
R-HSA-72737 Cap-dependent Translation Initiation
R-HSA-8868773 rRNA processing in the nucleus and cytosol
R-HSA-156902 Peptide chain elongation
R-HSA-2408557 Selenocysteine synthesis
R-HSA-72764 Eukaryotic Translation Termination
R-HSA-975957 Nonsense Mediated Decay (NMD) enhanced by the Exon Junction Complex (EJC)
R-HSA-975956 Nonsense Mediated Decay (NMD) independent of the Exon Junction Complex (EJC)
R-HSA-72766 Translation
R-HSA-376176 Signaling by ROBO receptors
R-HSA-192823 Viral mRNA Translation
R-HSA-72702 Ribosomal scanning and start codon recognition
R-HSA-156827 L13a-mediated translation
R-HSA-72662 Activation of the mRNA upon binding of the cap-binding complex and eIFs, and subsequent binding to 43S
R-HSA-72613 Eukaryotic Translation Initiation
R-HSA-72312 rRNA processing
R-HSA-156842 Eukaryotic Translation Elongation
R-HSA-2408522 Selenoamino acid metabolism
R-HSA-927802 Nonsense-Mediated Decay (NMD)
R-HSA-392499 Metabolism of proteins
R-HSA-422475 Axon guidance
R-HSA-168273 Influenza Viral RNA Transcription and Replication
R-HSA-8953854 Metabolism of RNA
R-HSA-71291 Metabolism of nitrogenous molecules
R-HSA-1266738 Developmental Biology
R-HSA-168255 Influenza Life Cycle
R-HSA-1430728 Metabolism
R-HSA-168254 Influenza Infection
R-HSA-5663205 Infectious disease
R-HSA-1643685 Disease

-  Other Names for This Gene
  Alternate Gene Symbols: CCG2, NM_001007, NP_000998, P12631, P12750, P27576, P55831, P62701, Q14727, Q6IPY4, RPS4, RS4X_HUMAN, SCAR
UCSC ID: uc004ear.3
RefSeq Accession: NM_001007
Protein: P62701 (aka RS4X_HUMAN)
CCDS: CCDS14418.1

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: NM_001007.4
exon count: 7CDS single in 3' UTR: no RNA size: 956
ORF size: 792CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 1784.00frame 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.