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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. Among its related pathways are Organelle biogenesis and maintenance and Mitochondrial 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 , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for MRPL30 Gene

Genomics for MRPL30 Gene

GeneHancer (GH) Regulatory Elements for MRPL30 Gene

Promoters and enhancers for MRPL30 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
GH02I099179 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 550.8 +0.5 457 3.4 MLX DMAP1 IRF4 YY1 SLC30A9 ZNF213 E2F8 ZNF143 SP3 NFYC MITD1 MRPL30 TSGA10 UNC50 REV1 LIPT1 ENSG00000273306 LOC550644 ENSG00000241962 LYG1
GH02I099180 Enhancer 0.6 ENCODE 550.8 -1.8 -1805 0.4 SMARCA5 CTCF ZNF654 TRIM22 ZNF384 REST RAD21 ATF2 ZEB1 ZNF143 MITD1 MRPL30 TSGA10 LIPT1 KIAA1211L ENSG00000273155 ENSG00000241962
GH02I098606 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 9 -572.3 -572256 4.2 PKNOX1 MLX ARID4B SIN3A DMAP1 YY1 SLC30A9 POLR2B E2F8 ZNF207 UNC50 COA5 INPP4A RNU7-46P LIPT1 TSGA10 MRPL30 PIR57027
GH02I099152 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 7.9 -26.9 -26919 4.2 HDGF CLOCK SMAD1 FOXA2 MLX ZFP64 ARID4B SIN3A DMAP1 ZNF2 TSGA10 LIPT1 ENSG00000273155 REV1 MRPL30 ENSG00000241962 C2orf15
GH02I099065 Enhancer 0.9 Ensembl ENCODE 10 -114.7 -114661 1.9 CTCF ARID4B ZNF644 RAD21 GATA3 ZNF143 SMC3 ETV6 IKZF2 RUNX3 TSGA10 LIPT1 MRPL30 LOC550644 KIAA1211L
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around MRPL30 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the MRPL30 gene promoter:

Genomic Locations for MRPL30 Gene

Genomic Locations for MRPL30 Gene
chr2:99,181,079-99,199,557
(GRCh38/hg38)
Size:
18,479 bases
Orientation:
Plus strand
chr2:99,797,542-99,816,020
(GRCh37/hg19)

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). 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; Positions=1, 36; 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

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

Suggested Antigen Peptide Sequences for MRPL30 Gene

GenScript: Design optimal peptide antigens:

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

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

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

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

Unigene Clusters for MRPL30 Gene

Mitochondrial ribosomal protein L30:
Representative Sequences:

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
ECgene alternative splicing isoforms for
MRPL30

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:

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 33 34
  • 99.17 (n)
dog
(Canis familiaris)
Mammalia MRPL30 33
  • 89.23 (n)
-- 34
  • 87 (a)
ManyToMany
-- 34
  • 72 (a)
ManyToMany
cow
(Bos Taurus)
Mammalia MRPL30 33 34
  • 86.71 (n)
rat
(Rattus norvegicus)
Mammalia LOC100910006 33
  • 84.18 (n)
mouse
(Mus musculus)
Mammalia Mrpl30 33 16 34
  • 83.12 (n)
chicken
(Gallus gallus)
Aves -- 34
  • 57 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia -- 34
  • 64 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia mrpl30 33
  • 63.33 (n)
Str.20361 33
zebrafish
(Danio rerio)
Actinopterygii mrpl30 33
  • 58.66 (n)
C9H2orf15 34
  • 58 (a)
OneToMany
Dr.16980 33
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.4859 33
fruit fly
(Drosophila melanogaster)
Insecta mRpL30 34
  • 26 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.4104 34
  • 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)

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 from dbSNP and Humsavar for MRPL30 Gene

SNP ID Clin Chr 02 pos Variation AA Info Type
rs1000331959 -- 99,186,476(+) G/A intron_variant
rs1000373733 -- 99,183,024(+) C/G intron_variant
rs1000484307 -- 99,198,486(+) A/G/T 3_prime_UTR_variant, non_coding_transcript_variant
rs1000660028 -- 99,181,910(+) T/A/C intron_variant
rs1000713355 -- 99,181,405(+) C/G intron_variant

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

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
retinitis pigmentosa 4
  • rp4
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for MRPL30

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 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 (New York, N.Y.) 2014) 3 4 58
  2. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson SL … O'Brien SJ (PloS one 2010) 3 44 58
  3. Generation and annotation of the DNA sequences of human chromosomes 2 and 4. (PMID: 15815621) Hillier LW … Wilson RK (Nature 2005) 3 4 58
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58
  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 58

Products for MRPL30 Gene

Sources for MRPL30 Gene

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