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... See more...

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
  • 39S Ribosomal Protein S30, Mitochondrial 3 4
  • MRP-S30 3 4
  • PDCD9 3 4
  • S30mt 3 4
  • 28S 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. Diseases associated with MRPS30 include Epileptic Encephalopathy, Early Infantile, 24. Among its related pathways are Mitochondrial translation and Organelle biogenesis and maintenance. Gene Ontology (GO) annotations related to this gene include structural constituent of ribosome.

Gene Wiki entry for MRPS30 Gene

Additional gene information for MRPS30 Gene

No data available for CIViC Summary , UniProtKB/Swiss-Prot Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for MRPS30 Gene

Genomics for MRPS30 Gene

GeneHancer (GH) Regulatory Elements for MRPS30 Gene

Promoters and enhancers for MRPS30 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH05J044807 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE CraniofacialAtlas 500.7 +0.8 776 4.2 EP300 ZBTB40 ZNF217 CTCF NRF1 MYC POLR2G USF1 SP1 NCOR1 MRPS30 NONHSAG040331.2 ENSG00000272335 FGF10-AS1 MRPS30-DT
GH05J044833 Enhancer 0.3 Ensembl 11 +24.5 24476 0.4 KLF4 MRPS30 ENSG00000272335 MRPS30-DT
GH05J044813 Enhancer 0.4 Ensembl 0.7 +4.4 4376 0.6 NFE2 MAFG EMSY lnc-MRPS30-7 MRPS30 NONHSAG040331.2 MRPS30-DT
GH05J044814 Enhancer 0.3 Ensembl 0.4 +5.1 5076 0.4 RBFOX2 lnc-MRPS30-7 ENSG00000272335 NONHSAG040331.2 MRPS30 MRPS30-DT
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around MRPS30 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for MRPS30

Top Transcription factor binding sites by QIAGEN in the MRPS30 gene promoter:
  • C/EBPalpha
  • E2F
  • E2F-1
  • MZF-1
  • NRSF form 1
  • NRSF form 2
  • POU2F1
  • POU2F1a

Genomic Locations for MRPS30 Gene

Genomic Locations for MRPS30 Gene
chr5:44,808,925-44,820,428
(GRCh38/hg38)
Size:
11,504 bases
Orientation:
Plus strand
chr5:44,809,027-44,820,530
(GRCh37/hg19)
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) (PubMed:28892042, PubMed:25838379, PubMed:25278503). 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; 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

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

Protein Domains for MRPS30 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for MRPS30 Gene

GenScript: Design optimal peptide antigens:
  • MRPS30 protein (Q9BUN6_HUMAN)
  • Programmed cell death protein 9 (RT30_HUMAN)

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

Phenotypes From GWAS Catalog for MRPS30 Gene

Gene Ontology (GO) - Molecular Function for MRPS30 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003723 RNA binding HDA 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

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 1

Gene Ontology (GO) - Cellular Components for MRPS30 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion IDA,IBA 28892042
GO:0005743 mitochondrial inner membrane TAS --
GO:0005762 mitochondrial large ribosomal subunit IDA,IBA 28892042
GO:0005840 ribosome IEA --
genes like me logo Genes that share ontologies with MRPS30: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for MRPS30 Gene

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

mRNA/cDNA for MRPS30 Gene

1 REFSEQ mRNAs :
12 NCBI additional mRNA sequence :
4 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR 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

Expression for MRPS30 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and 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, MaxQB, and MOPED for MRPS30 Gene



Protein tissue co-expression partners for MRPS30 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for 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

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 31 30
  • 99.7 (n)
OneToOne
dog
(Canis familiaris)
Mammalia MRPS30 31 30
  • 84.95 (n)
OneToOne
cow
(Bos Taurus)
Mammalia MRPS30 31 30
  • 83.83 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Mrps30 17 31 30
  • 80.14 (n)
rat
(Rattus norvegicus)
Mammalia Mrps30 30
  • 80.12 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia MRPS30 31
  • 77 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia MRPS30 31
  • 71 (a)
OneToOne
chicken
(Gallus gallus)
Aves MRPS30 31 30
  • 68.12 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia MRPS30 31
  • 62 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia mrps30 30
  • 62.25 (n)
Str.8199 30
African clawed frog
(Xenopus laevis)
Amphibia PDCD9 30
zebrafish
(Danio rerio)
Actinopterygii mrps30 31 30
  • 57.68 (n)
OneToMany
MRPS30 (1 of 2) 31
  • 42 (a)
OneToMany
Dr.5260 30
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.13753 30
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP001134 30
  • 41.56 (n)
fruit fly
(Drosophila melanogaster)
Insecta mRpS30 31 30
  • 40.97 (n)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea CSA.2384 31
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for MRPS30: view image

Paralogs for MRPS30 Gene

No data available for Paralogs for MRPS30 Gene

Variants for MRPS30 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for MRPS30 Gene

SNP ID Clinical significance and condition Chr 05 pos Variation AA Info Type
rs751273694 Not Provided: not provided 44,811,081(+) G/A MISSENSE_VARIANT
rs35601455 - p.Ala102Val
rs3747479 - p.Cys33Ser

Additional dbSNP identifiers (rs#s) for MRPS30 Gene

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)

Additional Variant Information 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

MalaCards: The human disease database

(1) MalaCards diseases for MRPS30 Gene - From: DISEASES

Disorder Aliases PubMed IDs
epileptic encephalopathy, early infantile, 24
  • eiee24
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for MRPS30

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with MRPS30: view

No data available for 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 L … Escarceller M (Cytogenetics and cell genetics 1999) 2 3 4 23 54
  2. The small subunit of the mammalian mitochondrial ribosome. Identification of the full complement of ribosomal proteins present. (PMID: 11279123) Cavdar Koc E … Spremulli LL (The Journal of biological chemistry 2001) 2 3 4 54
  3. Structures of the human mitochondrial ribosome in native states of assembly. (PMID: 28892042) Brown A … Ramakrishnan V (Nature structural & molecular biology 2017) 3 4 54
  4. Investigation of genetic susceptibility factors for human longevity - a targeted nonsynonymous SNP study. (PMID: 20800603) Flachsbart F … Nebel A (Mutation research 2010) 3 41 54
  5. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson SL … O'Brien SJ (PloS one 2010) 3 41 54

Products for MRPS30 Gene

Sources for MRPS30 Gene