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Aliases for MRPL30 Gene

Aliases for MRPL30 Gene

  • Mitochondrial Ribosomal Protein L30 2 3 5
  • Mitochondrial Large Ribosomal Subunit Protein UL30m 3 4
  • 39S Ribosomal Protein L28, Mitochondrial 3 4
  • MRP-L28 3 4
  • MRP-L30 3 4
  • MRPL28 3 4
  • RPML28 3 4
  • L28mt 3 4
  • L30MT 3 4
  • 39S Ribosomal Protein L30, Mitochondrial 3
  • MRPL28M 3

External Ids for MRPL30 Gene

Previous GeneCards Identifiers for MRPL30 Gene

  • GC02P097654
  • GC02P098225
  • GC02P099402
  • GC02P099418
  • GC02P099256
  • GC02P099137
  • GC02P099772
  • GC02P093563
  • GC02P099773
  • GC02P099800

Summaries for MRPL30 Gene

Entrez Gene Summary for MRPL30 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 39S subunit protein. Alternative splicing results in multiple transcript variants. Pseudogenes corresponding to this gene are found on chromosomes 6p and 12p. Read-through transcription also exists between this gene and the neighboring upstream lipoyltransferase 1 (LIPT1) gene. [provided by RefSeq, Mar 2011]

GeneCards Summary for MRPL30 Gene

MRPL30 (Mitochondrial Ribosomal Protein L30) is a Protein Coding gene. Diseases associated with MRPL30 include Retinitis Pigmentosa 4, Autosomal Dominant Or Recessive. Among its related pathways are Mitochondrial translation and Viral mRNA Translation. An important paralog of this gene is ENSG00000241962.

Gene Wiki entry for MRPL30 Gene

No data available for CIViC summary , UniProtKB/Swiss-Prot , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for MRPL30 Gene

Genomics for MRPL30 Gene

Regulatory Elements for MRPL30 Gene

Enhancers for MRPL30 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
GH02G098606 1.4 ENCODE dbSUPER 9 -572.3 -572257 4.2 HNRNPUL1 PKNOX1 MLX CREB3L1 ARID4B SIN3A DMAP1 YY1 SLC30A9 ZNF143 INPP4A RNU7-46P MRPL30 TSGA10 LIPT1 UNC50 PIR57027
GH02G099065 1 Ensembl ENCODE 10 -114.7 -114662 1.9 CTCF ARID4B ZNF644 RAD21 GATA3 ARID3A GATA2 POLR2A SMC3 ETV6 TSGA10 LIPT1 MRPL30 LOC550644 KIAA1211L
GH02G099479 1 Ensembl ENCODE 9.5 +300.0 300029 3.0 PKNOX1 RFX1 HLF ZNF843 ZSCAN21 ZFHX2 CTBP1 PRDM6 ZNF366 EGR1 TSGA10 MRPL30 LYG1 LIPT1 REV1 ENSG00000273306
GH02G099152 1.2 ENCODE 7.9 -26.9 -26919 4.2 MLX CREB3L1 ZFP64 DMAP1 YY1 SLC30A9 ZNF143 ZNF263 SP3 NFYC TSGA10 MRPL30 LIPT1 ENSG00000241962 C2orf15
GH02G099474 0.9 Ensembl ENCODE 9.5 +294.8 294798 3.3 PKNOX1 HCFC1 NR2F1 HLF CEBPB ZNF394 CEBPG FOSL1 ZNF121 JUND TSGA10 LYG1 MRPL30 LIPT1 REV1 ENSG00000273306
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around MRPL30 on UCSC Golden Path with GeneCards custom track

Promoters for MRPL30 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000120539 121 2401 MLX CREB3L1 DMAP1 YY1 SLC30A9 ZNF143 ZNF263 SP3 NFYC TBX21

Genomic Location for MRPL30 Gene

99,181,079 bp from pter
99,199,557 bp from pter
18,479 bases
Plus strand

Genomic View for MRPL30 Gene

Genes around MRPL30 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
MRPL30 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for MRPL30 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for MRPL30 Gene

Proteins for MRPL30 Gene

  • Protein details for MRPL30 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    39S ribosomal protein L30, mitochondrial
    Protein Accession:
    Secondary Accessions:
    • A6NIC6
    • D3DVI0
    • D3DVI3
    • Q0D2Q7
    • Q6ZTP4
    • Q96Q69
    • Q9P0N0

    Protein attributes for MRPL30 Gene

    161 amino acids
    Molecular mass:
    18546 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.
    • Sequence=AAF36169.1; Type=Frameshift; Positions=1, 36; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for MRPL30 Gene

    Alternative splice isoforms for MRPL30 Gene


neXtProt entry for MRPL30 Gene

Post-translational modifications for MRPL30 Gene

  • Ubiquitination at posLast=8787
  • Modification sites at PhosphoSitePlus

Other Protein References for MRPL30 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for MRPL30 Gene

Domains & Families for MRPL30 Gene

Gene Families for MRPL30 Gene

Protein Domains for MRPL30 Gene

Suggested Antigen Peptide Sequences for MRPL30 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the universal ribosomal protein uL30 family.
  • Belongs to the universal ribosomal protein uL30 family.
genes like me logo Genes that share domains with MRPL30: view

Function for MRPL30 Gene

Gene Ontology (GO) - Molecular Function for MRPL30 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003735 structural constituent of ribosome IEA --
genes like me logo Genes that share ontologies with MRPL30: view
genes like me logo Genes that share phenotypes with MRPL30: view

Animal Model Products

CRISPR Products

miRNA for MRPL30 Gene

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 MRPL30 Gene

Localization for MRPL30 Gene

Subcellular locations from UniProtKB/Swiss-Prot for MRPL30 Gene


Subcellular locations from

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 MRPL30 gene
Compartment Confidence
mitochondrion 5

Gene Ontology (GO) - Cellular Components for MRPL30 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion IEA --
GO:0005743 mitochondrial inner membrane TAS --
GO:0005762 mitochondrial large ribosomal subunit IDA 25278503
GO:0005840 ribosome IEA --
GO:0015934 large ribosomal subunit IEA --
genes like me logo Genes that share ontologies with MRPL30: view

Pathways & Interactions for MRPL30 Gene

genes like me logo Genes that share pathways with MRPL30: view

Gene Ontology (GO) - Biological Process for MRPL30 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006412 translation IEA --
GO:0070125 mitochondrial translational elongation TAS --
GO:0070126 mitochondrial translational termination TAS --
genes like me logo Genes that share ontologies with MRPL30: view

No data available for SIGNOR curated interactions for MRPL30 Gene

Drugs & Compounds for MRPL30 Gene

No Compound Related Data Available

Transcripts for MRPL30 Gene

Unigene Clusters for MRPL30 Gene

Mitochondrial ribosomal protein L30:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for MRPL30 Gene

No ASD Table

Relevant External Links for MRPL30 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for MRPL30 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for MRPL30 Gene

Protein differential expression in normal tissues from HIPED for MRPL30 Gene

This gene is overexpressed in Plasma (14.6), Rectum (14.4), and Lung (10.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for MRPL30 Gene

Protein tissue co-expression partners for MRPL30 Gene

NURSA nuclear receptor signaling pathways regulating expression of MRPL30 Gene:


SOURCE GeneReport for Unigene cluster for MRPL30 Gene:


Evidence on tissue expression from TISSUES for MRPL30 Gene

  • Blood(4)
  • Kidney(4)
  • Nervous system(4)
genes like me logo Genes that share expression patterns with MRPL30: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for MRPL30 Gene

Orthologs for MRPL30 Gene

This gene was present in the common ancestor of animals.

Orthologs for MRPL30 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia MRPL30 34 35
  • 99.17 (n)
(Canis familiaris)
Mammalia MRPL30 34
  • 89.23 (n)
-- 35
  • 87 (a)
-- 35
  • 72 (a)
(Bos Taurus)
Mammalia MRPL30 34 35
  • 86.71 (n)
(Rattus norvegicus)
Mammalia Mrpl30 34
  • 84.18 (n)
(Mus musculus)
Mammalia Mrpl30 34 16 35
  • 83.12 (n)
(Gallus gallus)
Aves -- 35
  • 57 (a)
(Anolis carolinensis)
Reptilia -- 35
  • 64 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia mrpl30 34
  • 63.33 (n)
Str.20361 34
(Danio rerio)
Actinopterygii mrpl30 34
  • 58.66 (n)
C9H2orf15 35
  • 58 (a)
Dr.16980 34
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.4859 34
fruit fly
(Drosophila melanogaster)
Insecta mRpL30 35
  • 26 (a)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.4104 35
  • 18 (a)
Species where no ortholog for MRPL30 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • 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)
  • oppossum (Monodelphis domestica)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • 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 MRPL30 Gene

Gene Tree for MRPL30 (if available)
Gene Tree for MRPL30 (if available)

Paralogs for MRPL30 Gene

Paralogs for MRPL30 Gene Pseudogenes for MRPL30 Gene

genes like me logo Genes that share paralogs with MRPL30: view

Variants for MRPL30 Gene

Sequence variations from dbSNP and Humsavar for MRPL30 Gene

SNP ID Clin Chr 02 pos Sequence Context AA Info Type
rs1000331959 -- 99,186,476(+) TACAG(A/G)TGTCT intron-variant
rs1000373733 -- 99,183,024(+) GTGAT(C/G)TGGGT intron-variant, upstream-variant-2KB
rs1000484307 -- 99,198,486(+) CAATC(A/G/T)TGTGC nc-transcript-variant, utr-variant-3-prime
rs1000660028 -- 99,181,910(+) GTTTT(A/C/T)CCCCC intron-variant, upstream-variant-2KB
rs1000713355 -- 99,181,405(+) GCTCC(C/G)GTAAG intron-variant, upstream-variant-2KB

Structural Variations from Database of Genomic Variants (DGV) for MRPL30 Gene

Variant ID Type Subtype PubMed ID
esv3591732 CNV gain 21293372
esv3591733 CNV loss 21293372
esv3591734 CNV gain 21293372

Variation tolerance for MRPL30 Gene

Residual Variation Intolerance Score: 61.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.01; 20.80% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for MRPL30 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MRPL30 Gene

Disorders for MRPL30 Gene

MalaCards: The human disease database

(1) MalaCards diseases for MRPL30 Gene - From: DISEASES

Disorder Aliases PubMed IDs
retinitis pigmentosa 4, autosomal dominant or recessive
  • retinitis pigmentosa 4
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for MRPL30

Genetic Association Database (GAD)
Human Genome Epidemiology (HuGE) Navigator
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
genes like me logo Genes that share disorders with MRPL30: view

No data available for UniProtKB/Swiss-Prot and Genatlas for MRPL30 Gene

Publications for MRPL30 Gene

  1. Structure of the large ribosomal subunit from human mitochondria. (PMID: 25278503) Brown A. … Ramakrishnan V. (Science 2014) 3 4 64
  2. 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
  3. Generation and annotation of the DNA sequences of human chromosomes 2 and 4. (PMID: 15815621) Hillier L.W. … Wilson R.K. (Nature 2005) 3 4 64
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4 64
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4 64

Products for MRPL30 Gene

Sources for MRPL30 Gene

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