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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

MRPS30 Gene

protein-coding   GIFtS: 49
GCID: GC05P044809

Mitochondrial Ribosomal Protein S30


(Previous symbol: PDCD9)
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Mitochondrial Ribosomal Protein S301 2     28S Ribosomal Protein S30, Mitochondrial2
PDCD91 2 3     PAP2
MRP-S302 3     Programmed Cell Death 92
S30mt2 3     Programmed Cell Death Protein 93

External Ids:    HGNC: 87691   Entrez Gene: 108842   Ensembl: ENSG000001129967   OMIM: 6119915   UniProtKB: Q9NP923   

Export aliases for MRPS30 gene to outside databases

Previous GC identifers: GC05P045118 GC05P045985 GC05P044854 GC05P044844


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for MRPS30 Gene:
Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the
mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit.
They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is
reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain
a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and
sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a
28S subunit protein that is similar to the chicken pro-apoptotic protein p52. Transcript variants using
alternative promoters or polyA sites have been mentioned in the literature but the complete description of these
sequences is not available. (provided by RefSeq, Jul 2008)

GeneCards Summary for MRPS30 Gene: 
MRPS30 (mitochondrial ribosomal protein S30) is a protein-coding gene. Diseases associated with MRPS30 include breast cancer susceptibility, and breast cancer. GO annotations related to this gene include structural constituent of ribosome.

Gene Wiki entry for MRPS30 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000005.9  NC_018916.2  NT_006576.16  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the MRPS30 gene promoter:
         NRSF form 1   NRSF form 2   C/EBPalpha   MZF-1   POU2F1   E2F   E2F-1   POU2F1a   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): MRPS30 promoter sequence
   Search SABiosciences Chromatin IP Primers for MRPS30

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat MRPS30


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 5q11   Ensembl cytogenetic band:  5p12   HGNC cytogenetic band: 5q11

MRPS30 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
MRPS30 gene location

GeneLoc information about chromosome 5         GeneLoc Exon Structure

GeneLoc location for GC05P044809:  view genomic region     (about GC identifiers)

Start:
44,809,027 bp from pter      End:
44,820,530 bp from pter
Size:
11,504 bases      Orientation:
plus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: RT30_HUMAN, Q9NP92 (See protein sequence)
Recommended Name: 28S ribosomal protein S30, mitochondrial  
Size: 439 amino acids; 50365 Da
Subunit: Component of the mitochondrial ribosome small subunit (28S) which comprises a 12S rRNA and about 30
distinct proteins
Subcellular location: Mitochondrion
Sequence caution: Sequence=AAF67634.1; Type=Frameshift; Positions=Several; Sequence=AAF67634.1; Type=Miscellaneous
discrepancy; Note=Sequencing errors;
Secondary accessions: Q96I91 Q96Q19 Q9H0P8 Q9NSF9 Q9NZ76

Explore the universe of human proteins at neXtProt for MRPS30: NX_Q9NP92

Explore proteomics data for MRPS30 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q9NP92

  • MRPS30 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    MRPS30 Protein Expression
    REFSEQ proteins: NP_057724.2  
    ENSEMBL proteins: 
     ENSP00000424328  

    Human Recombinant Protein Products for MRPS30: 
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    Cloud-Clone Corp. Proteins for MRPS30 

    Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005739mitochondrion IEA--
    GO:0005840ribosome IEA--

    MRPS30 for ontologies           About GeneDecksing



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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    HGNC Gene Families: 
    MRPS: Mitochondrial ribosomal proteins / small subunits

    1 InterPro protein domain:
     IPR010793 Ribosomal_L37/S30

    Graphical View of Domain Structure for InterPro Entry Q9NP92

    ProtoNet protein and cluster: Q9NP92

    UniProtKB/Swiss-Prot: RT30_HUMAN, Q9NP92
    Similarity: Belongs to the ribosomal protein S30/L37 family


    MRPS30 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

         Gene Ontology (GO): 1 molecular function term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003735structural constituent of ribosome IEA--
         
    MRPS30 for ontologies           About GeneDecksing


    Animal Models:
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    Inhib. RNA
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    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section



    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for MRPS30

    5/245 Interacting proteins for MRPS30 (Q9NP922, 3) via UniProtKB, MINT, STRING, and/or I2D (see all 245)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ICT1Q141972, 3MINT-8079030 I2D: score=1 
    MAGEA11P433643I2D: score=1 
    AARS2Q5JTZ92MINT-8079030
    AASSQ9UDR52MINT-8079030
    ABCB7O750272MINT-8079030
    About this table

    Gene Ontology (GO): 2 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006412translation IEA--
    GO:0006915apoptotic process TAS10640817

    MRPS30 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for MRPS30 (RT30)

    Search CenterWatch for drugs/clinical trials and news about MRPS30 / RT30

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for MRPS30 gene: 
    NM_016640.3  

    Unigene Cluster for MRPS30:

    Mitochondrial ribosomal protein S30
    Hs.124165  [show with all ESTs]
    Unigene Representative Sequence: NM_016640
    4 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000507110(uc003joh.3) ENST00000515647(uc003joi.1) ENST00000508129
    ENST00000230914
    miRNA
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    hsa-miR-616* hsa-miR-944 hsa-miR-373*
    SwitchGear 3'UTR luciferase reporter plasmidMRPS30 3' UTR sequence
    Inhib. RNA
    Products:
         
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat MRPS30
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat MRPS30

    Additional mRNA sequence: 

    AF146192.2 AF217523.1 AK074777.1 AK222704.1 AK222894.1 AL136706.1 AL355715.1 AL355716.1 
    AL355718.1 BC002460.2 BC007735.2 

    4 DOTS entries:

    DT.443001  DT.100782208  DT.91764081  DT.100709167 

    24/223 AceView cDNA sequences (see all 223):

    AA459984 AL120862 BX538300 BQ632409 AI457997 CA446970 CR591562 BM264120 
    BI494731 AA814781 BF591472 BM681485 BM726700 BI335010 CR601124 BX096305 
    BX115772 CD674935 AI039322 Z39368 CA428387 CB158814 AW192107 BC007735 

    GeneLoc Exon Structure

    3 Alternative Splicing Database (ASD) splice patterns (SP) for MRPS30    About this scheme

    ExUns: 1a · 1b ^ 2 ^ 3 ^ 4a · 4b ^ 5 ^ 6 ^ 7a · 7b
    SP1:                    -                                       
    SP2:                                                            
    SP3:                    -                                       


    ECgene alternative splicing isoforms for MRPS30

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    MRPS30 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GTTTACCCGC
    MRPS30 Expression
    About this image


    See MRPS30 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for MRPS30

    SOURCE GeneReport for Unigene cluster: Hs.124165

    UniProtKB/Swiss-Prot: RT30_HUMAN, Q9NP92
    Tissue specificity: Heart, skeletal muscle, kidney and liver. Lower expression in placenta and peripheral blood
    leukocytes

        SABiosciences Custom PCR Arrays for MRPS30
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MRPS30

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of animals.

    Orthologs for MRPS30 gene from 6/16 species (see all 16)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Mrps301 , 5 mitochondrial ribosomal protein S301, 5 80.36(n)1
    74.94(a)1
      13 (66.88 cM)5
    590541  NM_021556.31  NP_067531.11 
     1183801105 
    chicken
    (Gallus gallus)
    Aves MRPS301 mitochondrial ribosomal protein S30 67.78(n)
    61.58(a)
      395781  NM_204939.1  NP_990270.1 
    lizard
    (Anolis carolinensis)
    Reptilia MRPS306
    Uncharacterized protein
    62(a)
    1 ↔ 1
    2(5475811-5483253)
    African clawed frog
    (Xenopus laevis)
    Amphibia PDCD92 PDCD9 protein 76.8(n)    AF317657.1 
    zebrafish
    (Danio rerio)
    Actinopterygii Dr.52602 Transcribed sequence with weak similarity to protein more 76.64(n)    57050817 
    fruit fly
    (Drosophila melanogaster)
    Insecta mRpS301 mitochondrial ribosomal protein S30 40.44(n)
    28.27(a)
      32530  NM_078612.3  NP_511167.1 


    ENSEMBL Gene Tree for MRPS30 (if available)
    TreeFam Gene Tree for MRPS30 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
      --

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/117 SNPs in MRPS30 are shown (see all 117)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 5 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0520484
    ----see VAR_0520482 A V mis40--------
    VAR_0280234
    ----see VAR_0280232 C S mis40--------
    rs1922685801,2
    --44810992(+) CCAGAC/TTCTTA 1 -- int10--------
    rs727562071,2
    C,F--44811207(+) CCAGAT/GAGATG 2 /R /I mis11Minor allele frequency- G:0.00NA 4548
    rs2009672721,2
    --44811218(+) ATAAAC/TCAAAC 2 P S mis10--------
    rs1431161271,2
    C,F--44811241(+) ATATCC/TAAGCA 2 S syn11Minor allele frequency- T:0.00NA 4548
    rs2022017441,2
    --44811268(+) ATTTAC/TTGCGA 1 -- int10--------
    rs1489503411,2
    C--44811291(+) TGATAC/TCTCGT 1 -- int10--------
    rs1865917191,2
    --44811356(+) AGGTGA/GATCTC 1 -- int10--------
    rs358507601,2
    C,F--44811508(+) GATCTA/GTATGT 1 -- int16Minor allele frequency- G:0.06NA WA 246

    HapMap Linkage Disequilibrium report for MRPS30 (44809027 - 44820530 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 8 variations for MRPS30:    About this table     
    Variant IDTypeSubtypePubMed ID
    dgv6045n71CNV Loss21882294
    nsv462127CNV Loss19166990
    dgv6044n71CNV Loss21882294
    nsv881280CNV Loss21882294
    nsv881418CNV Loss21882294
    dgv6046n71CNV Loss21882294
    nsv880712CNV Loss21882294
    nsv830279CNV Gain17160897

    SABiosciences Cancer Mutation PCR Assays
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 611991    OMIM disorders: --

    4 diseases for MRPS30:    About MalaCards
    breast cancer susceptibility    breast cancer    neuronitis    prostatitis


    MRPS30 for disorders           About GeneDecksing

    Genetic Association Database (GAD): MRPS30
    Human Genome Epidemiology (HuGE) Navigator: MRPS30 (6 documents)

    Export disorders for MRPS30 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for MRPS30 gene, integrated from 9 sources (see all 26):
    (articles sorted by number of sources associating them with MRPS30)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Cloning, expression, and mapping of PDCD9, the human homolog of Gallus gallus pro-apoptotic protein p52. (PubMed id 10640817)1, 2, 3, 9 Carim-Todd L.... Escarceller M. (1999)
    2. The small subunit of the mammalian mitochondrial ribosome: identification of the full complement of ribosomal proteins present. (PubMed id 11279123)1, 2, 3 Koc E.C.... Spremulli L.L. (2001)
    3. Investigation of genetic susceptibility factors for h uman longevity - A targeted nonsynonymous SNP study. (PubMed id 20800603)1, 4 Flachsbart F....Nebel A. (2010)
    4. Genetic variants in nuclear-encoded mitochondrial gen es influence AIDS progression. (PubMed id 20877624)1, 4 Hendrickson S.L....O'Brien S.J. (2010)
    5. Evaluation of 11 breast cancer susceptibility loci in African-American women. (PubMed id 19789366)1, 4 Zheng W....Blot W.J. (2009)
    6. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    7. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    8. Towards a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs. (PubMed id 11230166)1, 2 Wiemann S.... Poustka A. (2001)
    9. The human mitochondrial ribosomal protein genes: mapping of 54 genes to the chromosomes and implications for human disorders. (PubMed id 11543634)1, 2 Kenmochi N....Tanaka T. (2001)
    10. Cloning and functional analysis of cDNAs with open reading frames for 300 previously undefined genes expressed in CD34+ hematopoietic stem/progenitor cells. (PubMed id 11042152)1, 2 Zhang Q.-H.... Chen Z. (2000)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
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    NCBI Bookshelf
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 10884 HGNC: 8769 AceView: MRPS30 Ensembl:ENSG00000112996 euGenes: HUgn10884
    ECgene: MRPS30 H-InvDB: MRPS30

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for MRPS30 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for MRPS30 gene:
    Search GeneIP for patents involving MRPS30

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Sirion Biotech, Cell lines from GenScript, and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences, In Situ Hybridization Assays from
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    About This Section

     
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