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 MRPL30 Gene

Aliases for MRPL30 Gene

  • Mitochondrial Ribosomal Protein L30 2 3 5
  • Mitochondrial Large Ribosomal Subunit Protein UL30m 3 4
  • 39S Ribosomal Protein L30, Mitochondrial 3 4
  • 39S Ribosomal Protein L28, Mitochondrial 3 4
  • MRP-L28 3 4
  • MRP-L30 3 4
  • MRPL28 3 4
  • RPML28 3 4
  • MRPL28M 3
  • L28MT 3
  • L30MT 3
  • L28mt 4
  • L30mt 4

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. 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

Additional gene information for MRPL30 Gene

No data available for CIViC Summary , UniProtKB/Swiss-Prot Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for MRPL30 Gene

Genomics for MRPL30 Gene

GeneHancer (GH) Regulatory Elements for MRPL30 Gene

Promoters and enhancers for MRPL30 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around MRPL30 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for MRPL30

Top Transcription factor binding sites by QIAGEN in the MRPL30 gene promoter:
  • aMEF-2
  • AML1a
  • MEF-2A
  • NF-AT
  • NF-AT1
  • POU3F2
  • POU3F2 (N-Oct-5a)
  • POU3F2 (N-Oct-5b)
  • USF-1
  • USF1

Genomic Locations for MRPL30 Gene

Genomic Locations for MRPL30 Gene
chr2:99,181,079-99,199,561
(GRCh38/hg38)
Size:
18,483 bases
Orientation:
Plus strand
chr2:99,797,542-99,816,020
(GRCh37/hg19)
Size:
18,479 bases
Orientation:
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:
    Q8TCC3-RM30_HUMAN
    Recommended name:
    39S ribosomal protein L30, mitochondrial
    Protein Accession:
    Q8TCC3
    Secondary Accessions:
    • A6NIC6
    • D3DVI0
    • D3DVI3
    • Q0D2Q7
    • Q6ZTP4
    • Q96Q69
    • Q9P0N0

    Protein attributes for MRPL30 Gene

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

    Three dimensional structures from OCA and Proteopedia for MRPL30 Gene

    Alternative splice isoforms for MRPL30 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for MRPL30 Gene

Post-translational modifications for MRPL30 Gene

  • Ubiquitination at Lys87
  • 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

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

Protein Domains for MRPL30 Gene

Blocks:
  • Ribosomal protein L30
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for MRPL30 Gene

GenScript: Design optimal peptide antigens:
  • 39S ribosomal protein L28, mitochondrial (RM30_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q8TCC3

UniProtKB/Swiss-Prot:

RM30_HUMAN :
  • Belongs to the universal ribosomal protein uL30 family.
Family:
  • Belongs to the universal ribosomal protein uL30 family.
genes like me logo Genes that share domains with MRPL30: view

Function for MRPL30 Gene

Phenotypes From GWAS Catalog 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

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

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 MRPL30 gene
Compartment Confidence
mitochondrion 5
cytoskeleton 1
nucleus 1

Gene Ontology (GO) - Cellular Components for MRPL30 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion IBA,IDA 28892042
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

No data available for Subcellular locations from the Human Protein Atlas (HPA) for MRPL30 Gene

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

mRNA/cDNA for MRPL30 Gene

3 REFSEQ mRNAs :
10 NCBI additional mRNA sequence :
5 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 MRPL30 Gene

No ASD Table

Relevant External Links for MRPL30 Gene

GeneLoc Exon Structure for
MRPL30

Expression for MRPL30 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and 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, MaxQB, and MOPED for MRPL30 Gene



Protein tissue co-expression partners for MRPL30 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for MRPL30

SOURCE GeneReport for Unigene cluster for MRPL30 Gene:

Hs.346736

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

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
chimpanzee
(Pan troglodytes)
Mammalia MRPL30 31 30
  • 99.17 (n)
OneToMany
dog
(Canis familiaris)
Mammalia MRPL30 30
  • 89.23 (n)
-- 31
  • 87 (a)
ManyToMany
-- 31
  • 72 (a)
ManyToMany
cow
(Bos Taurus)
Mammalia MRPL30 31 30
  • 86.71 (n)
OneToMany
rat
(Rattus norvegicus)
Mammalia LOC100910006 30
  • 84.18 (n)
mouse
(Mus musculus)
Mammalia Mrpl30 17 31 30
  • 83.12 (n)
chicken
(Gallus gallus)
Aves -- 31
  • 57 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia -- 31
  • 64 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia mrpl30 30
  • 63.33 (n)
Str.20361 30
zebrafish
(Danio rerio)
Actinopterygii mrpl30 30
  • 58.66 (n)
C9H2orf15 31
  • 58 (a)
OneToMany
Dr.16980 30
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.4859 30
fruit fly
(Drosophila melanogaster)
Insecta mRpL30 31
  • 26 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.4104 31
  • 18 (a)
OneToMany
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

ENSEMBL:
Gene Tree for MRPL30 (if available)
TreeFam:
Gene Tree for MRPL30 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for MRPL30: view image

Paralogs for MRPL30 Gene

Paralogs for MRPL30 Gene

Pseudogenes.org Pseudogenes for MRPL30 Gene

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

Variants for MRPL30 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for MRPL30 Gene

SNP ID Clinical significance and condition Chr 02 pos Variation AA Info Type
rs1044575 - p.Ala130Thr

Additional dbSNP identifiers (rs#s) for MRPL30 Gene

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)

Additional Variant Information for MRPL30 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
MRPL30

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

Disorders for MRPL30 Gene

Additional Disease Information for MRPL30

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

No disorders were found for MRPL30 Gene.

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

Publications for MRPL30 Gene

  1. 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
  2. Structure of the large ribosomal subunit from human mitochondria. (PMID: 25278503) Brown A … Ramakrishnan V (Science (New York, N.Y.) 2014) 3 4 54
  3. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson SL … O'Brien SJ (PloS one 2010) 3 41 54
  4. Generation and annotation of the DNA sequences of human chromosomes 2 and 4. (PMID: 15815621) Hillier LW … Wilson RK (Nature 2005) 3 4 54
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 54

Products for MRPL30 Gene

Sources for MRPL30 Gene