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Aliases for MRPS30 Gene

Aliases for MRPS30 Gene

  • Mitochondrial Ribosomal Protein S30 2 3 5
  • Mitochondrial Large Ribosomal Subunit Protein ML65 3 4
  • Mitochondrial Large Ribosomal Subunit Protein MS30 3 4
  • MRP-S30 3 4
  • PDCD9 3 4
  • S30mt 3 4
  • 28S Ribosomal Protein S30, Mitochondrial 3
  • 39S Ribosomal Protein S30, Mitochondrial 3
  • Programmed Cell Death Protein 9 4
  • Programmed Cell Death 9 3
  • PAP 3

External Ids for MRPS30 Gene

Previous HGNC Symbols for MRPS30 Gene

  • PDCD9

Previous GeneCards Identifiers for MRPS30 Gene

  • GC05P045118
  • GC05P045985
  • GC05P044809
  • GC05P044854
  • GC05P044844

Summaries for MRPS30 Gene

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. Among its related pathways are Mitochondrial translation and Organelle biogenesis and maintenance. GO annotations related to this gene include poly(A) RNA binding and structural constituent of ribosome.

Gene Wiki entry for MRPS30 Gene

No data available for CIViC summary , UniProtKB/Swiss-Prot , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for MRPS30 Gene

Genomics for MRPS30 Gene

Regulatory Elements for MRPS30 Gene

Enhancers for MRPS30 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
GH05G044808 1.1 ENCODE 0.7 +0.8 801 3.3 PKNOX1 ARNT CREB3L1 WRNIP1 SIN3A DMAP1 ZNF2 YY1 ZNF766 CBX5 ENSG00000272335 BRCAT54 MRPS30 PIR47362
GH05G044811 0.4 Ensembl 0.7 +2.6 2576 0.2 RBFOX2 MRPS30 PIR47362
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around MRPS30 on UCSC Golden Path with GeneCards custom track

Promoters for MRPS30 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000180282 675 2801 PKNOX1 FOXA2 ARNT CREB3L1 WRNIP1 SIN3A DMAP1 ZNF2 YY1 ZNF766

Genomic Location for MRPS30 Gene

Chromosome:
5
Start:
44,808,925 bp from pter
End:
44,820,428 bp from pter
Size:
11,504 bases
Orientation:
Plus strand

Genomic View for MRPS30 Gene

Genes around MRPS30 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
MRPS30 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for MRPS30 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for MRPS30 Gene

Proteins for MRPS30 Gene

  • Protein details for MRPS30 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9NP92-RT30_HUMAN
    Recommended name:
    39S ribosomal protein S30, mitochondrial
    Protein Accession:
    Q9NP92
    Secondary Accessions:
    • Q96I91
    • Q96Q19
    • Q9H0P8
    • Q9NSF9
    • Q9NZ76

    Protein attributes for MRPS30 Gene

    Size:
    439 amino acids
    Molecular mass:
    50365 Da
    Quaternary structure:
    • Component of the mitochondrial large ribosomal subunit (mt-LSU). Mature mammalian 55S mitochondrial ribosomes consist of a small (28S) and a large (39S) subunit. The 28S small subunit contains a 12S ribosomal RNA (12S mt-rRNA) and 30 different proteins. The 39S large subunit contains a 16S rRNA (16S mt-rRNA), a copy of mitochondrial valine transfer RNA (mt-tRNA(Val)), which plays an integral structural role, and 52 different proteins. mL65 forms a heterodimer with mL37.
    SequenceCaution:
    • Sequence=AAF67634.1; Type=Frameshift; Positions=Several; Evidence={ECO:0000305}; Sequence=AAF67634.1; Type=Miscellaneous discrepancy; Note=Sequencing errors.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for MRPS30 Gene

neXtProt entry for MRPS30 Gene

Post-translational modifications for MRPS30 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for MRPS30 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for MRPS30 Gene

Domains & Families for MRPS30 Gene

Gene Families for MRPS30 Gene

Protein Domains for MRPS30 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for MRPS30 Gene

Graphical View of Domain Structure for InterPro Entry

Q9NP92

UniProtKB/Swiss-Prot:

RT30_HUMAN :
  • Belongs to the mitochondrion-specific ribosomal protein mL65 family.
Family:
  • Belongs to the mitochondrion-specific ribosomal protein mL65 family.
genes like me logo Genes that share domains with MRPS30: view

Function for MRPS30 Gene

Gene Ontology (GO) - Molecular Function for MRPS30 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003723 RNA binding IDA 22658674
GO:0003735 structural constituent of ribosome IEA --
genes like me logo Genes that share ontologies with MRPS30: view
genes like me logo Genes that share phenotypes with MRPS30: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Clone Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for MRPS30 Gene

Localization for MRPS30 Gene

Subcellular locations from UniProtKB/Swiss-Prot for MRPS30 Gene

Mitochondrion.

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 MRPS30 gene
Compartment Confidence
mitochondrion 5
nucleus 3
cytosol 3
peroxisome 2

Gene Ontology (GO) - Cellular Components for MRPS30 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion IEA --
GO:0005743 mitochondrial inner membrane TAS --
GO:0005840 ribosome IEA --
GO:0030529 intracellular ribonucleoprotein complex IEA --
genes like me logo Genes that share ontologies with MRPS30: view

Pathways & Interactions for MRPS30 Gene

genes like me logo Genes that share pathways with MRPS30: view

Gene Ontology (GO) - Biological Process for MRPS30 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006412 translation IEA --
GO:0006915 apoptotic process TAS 10640817
GO:0070125 mitochondrial translational elongation TAS --
GO:0070126 mitochondrial translational termination TAS --
genes like me logo Genes that share ontologies with MRPS30: view

No data available for SIGNOR curated interactions for MRPS30 Gene

Drugs & Compounds for MRPS30 Gene

No Compound Related Data Available

Transcripts for MRPS30 Gene

Unigene Clusters for MRPS30 Gene

Mitochondrial ribosomal protein S30:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for MRPS30 Gene

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

Relevant External Links for MRPS30 Gene

GeneLoc Exon Structure for
MRPS30
ECgene alternative splicing isoforms for
MRPS30

Expression for MRPS30 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for MRPS30 Gene

Protein differential expression in normal tissues from HIPED for MRPS30 Gene

This gene is overexpressed in Lung (21.6), Breast (20.6), and Pancreas (7.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for MRPS30 Gene



Protein tissue co-expression partners for MRPS30 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of MRPS30 Gene:

MRPS30

SOURCE GeneReport for Unigene cluster for MRPS30 Gene:

Hs.124165

mRNA Expression by UniProt/SwissProt for MRPS30 Gene:

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

Evidence on tissue expression from TISSUES for MRPS30 Gene

  • Muscle(4.4)
  • Kidney(4.3)
  • Bone marrow(4.2)
genes like me logo Genes that share expression patterns with MRPS30: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for MRPS30 Gene

Orthologs for MRPS30 Gene

This gene was present in the common ancestor of animals.

Orthologs for MRPS30 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia MRPS30 34 35
  • 99.7 (n)
dog
(Canis familiaris)
Mammalia MRPS30 34 35
  • 84.95 (n)
cow
(Bos Taurus)
Mammalia MRPS30 34 35
  • 83.83 (n)
mouse
(Mus musculus)
Mammalia Mrps30 34 16 35
  • 80.14 (n)
rat
(Rattus norvegicus)
Mammalia Mrps30 34
  • 80.12 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia MRPS30 35
  • 77 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia MRPS30 35
  • 71 (a)
OneToOne
chicken
(Gallus gallus)
Aves MRPS30 34 35
  • 68.12 (n)
lizard
(Anolis carolinensis)
Reptilia MRPS30 35
  • 62 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia mrps30 34
  • 62.25 (n)
Str.8199 34
African clawed frog
(Xenopus laevis)
Amphibia PDCD9 34
zebrafish
(Danio rerio)
Actinopterygii mrps30 34 35
  • 57.68 (n)
MRPS30 (1 of 2) 35
  • 42 (a)
OneToMany
Dr.5260 34
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.13753 34
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP001134 34
  • 41.56 (n)
fruit fly
(Drosophila melanogaster)
Insecta mRpS30 34 35
  • 40.97 (n)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.2384 35
  • 25 (a)
OneToOne
Species where no ortholog for MRPS30 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • 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)
  • worm (Caenorhabditis elegans)

Evolution for MRPS30 Gene

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

Paralogs for MRPS30 Gene

No data available for Paralogs for MRPS30 Gene

Variants for MRPS30 Gene

Sequence variations from dbSNP and Humsavar for MRPS30 Gene

SNP ID Clin Chr 05 pos Sequence Context AA Info Type
rs1000164784 -- 44,813,970(+) ATGAC(G/T)TACTC intron-variant
rs1000179013 -- 44,809,940(+) TGTGA(C/T)CATGT intron-variant, upstream-variant-2KB
rs1000524305 -- 44,811,247(+) ATGTT(A/T)CAGGT intron-variant
rs1000768593 -- 44,812,406(+) AAATT(C/G)ATAAT intron-variant
rs1000971075 -- 44,812,730(+) AAATA(A/C)GTTAT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for MRPS30 Gene

Variant ID Type Subtype PubMed ID
nsv1027897 CNV gain 25217958
nsv462127 CNV loss 19166990
nsv597933 CNV loss 21841781
nsv597934 CNV loss 21841781
nsv830279 CNV gain 17160897

Variation tolerance for MRPS30 Gene

Residual Variation Intolerance Score: 84.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.70; 46.25% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for MRPS30 Gene

Human Gene Mutation Database (HGMD)
MRPS30
SNPedia medical, phenotypic, and genealogical associations of SNPs for
MRPS30

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MRPS30 Gene

Disorders for MRPS30 Gene

Relevant External Links for MRPS30

Genetic Association Database (GAD)
MRPS30
Human Genome Epidemiology (HuGE) Navigator
MRPS30
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
MRPS30

No disorders were found for MRPS30 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for MRPS30 Gene

Publications for MRPS30 Gene

  1. Cloning, expression, and mapping of PDCD9, the human homolog of Gallus gallus pro-apoptotic protein p52. (PMID: 10640817) Carim-Todd L. … Escarceller M. (Cytogenet. Cell Genet. 1999) 2 3 4 22 64
  2. The small subunit of the mammalian mitochondrial ribosome: identification of the full complement of ribosomal proteins present. (PMID: 11279123) Koc E.C. … Spremulli L.L. (J. Biol. Chem. 2001) 2 3 4 64
  3. Investigation of genetic susceptibility factors for human longevity - a targeted nonsynonymous SNP study. (PMID: 20800603) Flachsbart F. … Nebel A. (Mutat. Res. 2010) 3 46 64
  4. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson S.L. … O'Brien S.J. (PLoS ONE 2010) 3 46 64
  5. Evaluation of 11 breast cancer susceptibility loci in African-American women. (PMID: 19789366) Zheng W. … Blot W.J. (Cancer Epidemiol. Biomarkers Prev. 2009) 3 46 64

Products for MRPS30 Gene

Sources for MRPS30 Gene

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