Human Gene RPS7 (uc002qxw.3)
  Description: Homo sapiens ribosomal protein S7 (RPS7), mRNA.
RefSeq Summary (NM_001011): Ribosomes, the 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 a ribosomal protein that is a component of the 40S subunit. The protein belongs to the S7E family of ribosomal proteins. It is located in the cytoplasm. 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].
Transcript (Including UTRs)
   Position: hg19 chr2:3,622,853-3,628,509 Size: 5,657 Total Exon Count: 7 Strand: +
Coding Region
   Position: hg19 chr2:3,623,200-3,628,472 Size: 5,273 Coding Exon Count: 6 

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

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr2:3,622,853-3,628,509)mRNA (may differ from genome)Protein (194 aa)
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MGIneXtProtOMIMPubMedReactomeTreefam
UniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: RS7_HUMAN
DESCRIPTION: RecName: Full=40S ribosomal protein S7;
FUNCTION: Required for rRNA maturation.
SUBUNIT: Binds IPO9 with high affinity. Interacts with NEK6.
INTERACTION: Q00987:MDM2; NbExp=15; IntAct=EBI-354360, EBI-389668;
SUBCELLULAR LOCATION: Cytoplasm, cytoskeleton, centrosome. Note=Co-localizes with NEK6 in the centrosome.
PTM: Phosphorylated by NEK6.
DISEASE: Defects in RPS7 are the cause of Diamond-Blackfan anemia type 8 (DBA8) [MIM:612563]. DBA8 is a form of Diamond-Blackfan anemia, a congenital non-regenerative hypoplastic anemia that usually presents early in infancy. Diamond-Blackfan anemia is characterized by a moderate to severe macrocytic anemia, erythroblastopenia, and an increased risk of malignancy. 30 to 40% of Diamond-Blackfan anemia patients present with short stature and congenital anomalies, the most frequent being craniofacial (Pierre-Robin syndrome and cleft palate), thumb and urogenital anomalies.
SIMILARITY: Belongs to the ribosomal protein S7e family.

-  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: RPS7
Diseases sorted by gene-association score: diamond-blackfan anemia 8* (919), rps7-related diamond-blackfan anemia* (500), diamond-blackfan anemia* (343), pierre robin syndrome (11)
* = Manually curated disease association

-  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: 760.83 RPKM in Cells - EBV-transformed lymphocytes
Total median expression: 13319.23 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 -37.70106-0.356 Picture PostScript Text
3' UTR 0.00370.000 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
IPR000554 - Ribosomal_S7e

Pfam Domains:
PF01251 - Ribosomal protein S7e

ModBase Predicted Comparative 3D Structure on P62081
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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
No orthologNo orthologGenome BrowserGenome BrowserGenome BrowserGenome Browser
Gene Details  Gene DetailsGene DetailsGene Details
Gene Sorter  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:0003730 mRNA 3'-UTR binding
GO:0003735 structural constituent of ribosome
GO:0005515 protein binding
GO:0019901 protein kinase binding
GO:0048027 mRNA 5'-UTR binding
GO:1990948 ubiquitin ligase inhibitor activity

Biological Process:
GO:0000184 nuclear-transcribed mRNA catabolic process, nonsense-mediated decay
GO:0002181 cytoplasmic translation
GO:0006364 rRNA processing
GO:0006412 translation
GO:0006413 translational initiation
GO:0006614 SRP-dependent cotranslational protein targeting to membrane
GO:0010628 positive regulation of gene expression
GO:0042274 ribosomal small subunit biogenesis
GO:0050821 protein stabilization
GO:1902255 positive regulation of intrinsic apoptotic signaling pathway by p53 class mediator
GO:1904667 negative regulation of ubiquitin protein ligase activity
GO:2000059 negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process

Cellular Component:
GO:0005622 intracellular
GO:0005634 nucleus
GO:0005654 nucleoplasm
GO:0005730 nucleolus
GO:0005737 cytoplasm
GO:0005815 microtubule organizing center
GO:0005829 cytosol
GO:0005840 ribosome
GO:0005856 cytoskeleton
GO:0005925 focal adhesion
GO:0016020 membrane
GO:0022627 cytosolic small ribosomal subunit
GO:0030686 90S preribosome
GO:0032040 small-subunit processome
GO:0032991 macromolecular complex
GO:1990904 ribonucleoprotein complex
GO:0005813 centrosome


-  Descriptions from all associated GenBank mRNAs
  BC061901 - Homo sapiens ribosomal protein S7, mRNA (cDNA clone MGC:70828 IMAGE:4442840), complete cds.
BC002866 - Homo sapiens ribosomal protein S7, mRNA (cDNA clone MGC:10268 IMAGE:3940495), complete cds.
AB055774 - Homo sapiens mRNA for ribosomal protein S7, partial cds.
AK311794 - Homo sapiens cDNA, FLJ92055, Homo sapiens ribosomal protein S7 (RPS7), mRNA.
JD458977 - Sequence 440001 from Patent EP1572962.
AB209386 - Homo sapiens mRNA for ribosomal protein S7 variant protein.
BC071919 - Homo sapiens ribosomal protein S7, mRNA (cDNA clone MGC:88601 IMAGE:5811776), complete cds.
JD118184 - Sequence 99208 from Patent EP1572962.
AB464168 - Synthetic construct DNA, clone: pF1KB6856, Homo sapiens RPS7 gene for ribosomal protein S7, without stop codon, in Flexi system.
DQ896234 - Synthetic construct Homo sapiens clone IMAGE:100010694; FLH191413.01L; RZPDo839C1267D ribosomal protein S7 (RPS7) gene, encodes complete protein.
DQ892985 - Synthetic construct clone IMAGE:100005615; FLH191417.01X; RZPDo839C1277D ribosomal protein S7 (RPS7) gene, encodes complete protein.
KJ892054 - Synthetic construct Homo sapiens clone ccsbBroadEn_01448 RPS7 gene, encodes complete protein.
JD020782 - Sequence 1806 from Patent EP1572962.
M77233 - Human ribosomal protein S7 mRNA, 3' end.
AF085824 - Homo sapiens full length insert cDNA clone YF46A04.
LF382432 - JP 2014500723-A/189935: Polycomb-Associated Non-Coding RNAs.
LF382430 - JP 2014500723-A/189933: Polycomb-Associated Non-Coding RNAs.
AK092027 - Homo sapiens cDNA FLJ34708 fis, clone MESAN2003058.
X74803 - H.sapiens D83 mRNA.
DQ575036 - Homo sapiens piRNA piR-43148, complete sequence.
LF371412 - JP 2014500723-A/178915: Polycomb-Associated Non-Coding RNAs.
MA606989 - JP 2018138019-A/178915: Polycomb-Associated Non-Coding RNAs.
MA618009 - JP 2018138019-A/189935: Polycomb-Associated Non-Coding RNAs.
MA618007 - JP 2018138019-A/189933: Polycomb-Associated Non-Coding RNAs.

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

Reactome (by CSHL, EBI, and GO)

Protein P62081 (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-6790906 EMG1 of the SSU processome methylates pseudouridine-1248 of 18S rRNA yielding N(1)-methylpseudouridine-1248
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-6790901 rRNA modification 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: NM_001011, NP_001002, P23821, P24818, P62081, Q57Z92, Q6IPH1, RS7_HUMAN
UCSC ID: uc002qxw.3
RefSeq Accession: NM_001011
Protein: P62081 (aka RS7_HUMAN)
CCDS: CCDS1648.1

-  GeneReviews for This Gene
  GeneReviews article(s) related to gene RPS7:
diamond-b (Diamond-Blackfan Anemia)

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: NM_001011.3
exon count: 7CDS single in 3' UTR: no RNA size: 745
ORF size: 585CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 1370.00frame shift in genome: no % Coverage: 97.72
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.