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 MRPL3 Gene

Aliases for MRPL3 Gene

  • Mitochondrial Ribosomal Protein L3 2 3 5
  • Mitochondrial Large Ribosomal Subunit Protein UL3m 3 4
  • 39S Ribosomal Protein L3, Mitochondrial 3 4
  • MRP-L3 3 4
  • RPML3 3 4
  • L3mt 3 4
  • MRL3 3 4
  • Mitochondrial 60S Ribosomal Protein L3 3
  • COXPD9 3

External Ids for MRPL3 Gene

Previous HGNC Symbols for MRPL3 Gene

  • RPML3

Previous GeneCards Identifiers for MRPL3 Gene

  • GC03M128092
  • GC03M131922
  • GC03M132462
  • GC03M132501
  • GC03M132663
  • GC03M131181
  • GC03M128565

Summaries for MRPL3 Gene

Entrez Gene Summary for MRPL3 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 that belongs to the L3P ribosomal protein family. A pseudogene corresponding to this gene is found on chromosome 13q. [provided by RefSeq, Jul 2008]

GeneCards Summary for MRPL3 Gene

MRPL3 (Mitochondrial Ribosomal Protein L3) is a Protein Coding gene. Diseases associated with MRPL3 include Combined Oxidative Phosphorylation Deficiency 9 and Combined Oxidative Phosphorylation Deficiency. Among its related pathways are Mitochondrial translation and Viral mRNA Translation. Gene Ontology (GO) annotations related to this gene include structural constituent of ribosome.

Gene Wiki entry for MRPL3 Gene

Additional gene information for MRPL3 Gene

No data available for CIViC Summary , UniProtKB/Swiss-Prot Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for MRPL3 Gene

Genomics for MRPL3 Gene

GeneHancer (GH) Regulatory Elements for MRPL3 Gene

Promoters and enhancers for MRPL3 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
GH03J131501 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE CraniofacialAtlas 500.7 +0.5 515 3 ZBTB40 ZNF217 EP300 ZSCAN5C SIN3A MYC TCF12 USF1 POLR2G SP1 ENSG00000248468 LOC105374114 MRPL3 lnc-CPNE4-1 NEK11
GH03J131380 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 20.8 +121.5 121515 3.4 ZNF217 SIN3A NRF1 POLR2G SP1 PHF8 FOS ZFX POLR2A ZBTB10 NUDT16 ENSG00000250608 MF281430-058 LOC339874 MRPL3 PIK3R4 ATP2C1 SNORA58
GH03J131473 Enhancer 0.3 Ensembl 11.1 +29.4 29415 0.4 MTA2 MRPL3 lnc-CPNE4-3 SNORA58 piR-36196
GH03J131475 Enhancer 0.2 Ensembl 11.1 +27.1 27115 0.2 MRPL3 SNORA58 lnc-CPNE4-3 piR-36196
GH03J131500 Promoter 0.3 Ensembl 0.7 +2.4 2415 0.4 ENSG00000248468 LOC105374114 MRPL3 lnc-CPNE4-1 piR-36196 SNORA58
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around MRPL3 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for MRPL3

Top Transcription factor binding sites by QIAGEN in the MRPL3 gene promoter:
  • AREB6
  • NF-AT
  • NF-AT1
  • NF-AT2
  • NF-AT3
  • NF-AT4
  • p300
  • POU2F1
  • POU2F1a
  • S8

Genomic Locations for MRPL3 Gene

Genomic Locations for MRPL3 Gene
chr3:131,462,201-131,503,016
(GRCh38/hg38)
Size:
40,816 bases
Orientation:
Minus strand
chr3:131,181,045-131,221,860
(GRCh37/hg19)
Size:
40,816 bases
Orientation:
Minus strand

Genomic View for MRPL3 Gene

Genes around MRPL3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
MRPL3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for MRPL3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for MRPL3 Gene

Proteins for MRPL3 Gene

  • Protein details for MRPL3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P09001-RM03_HUMAN
    Recommended name:
    39S ribosomal protein L3, mitochondrial
    Protein Accession:
    P09001
    Secondary Accessions:
    • Q6IBT2

    Protein attributes for MRPL3 Gene

    Size:
    348 amino acids
    Molecular mass:
    38633 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.

    Three dimensional structures from OCA and Proteopedia for MRPL3 Gene

neXtProt entry for MRPL3 Gene

Post-translational modifications for MRPL3 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for MRPL3 Gene

No data available for DME Specific Peptides for MRPL3 Gene

Domains & Families for MRPL3 Gene

Gene Families for MRPL3 Gene

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

Protein Domains for MRPL3 Gene

Blocks:
  • Ribosomal protein L3
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for MRPL3 Gene

GenScript: Design optimal peptide antigens:
  • Mitochondrial ribosomal protein L3 (Q96Q75_HUMAN)
  • 39S ribosomal protein L3, mitochondrial (RM03_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P09001

UniProtKB/Swiss-Prot:

RM03_HUMAN :
  • Belongs to the universal ribosomal protein uL3 family.
Family:
  • Belongs to the universal ribosomal protein uL3 family.
genes like me logo Genes that share domains with MRPL3: view

Function for MRPL3 Gene

Phenotypes From GWAS Catalog for MRPL3 Gene

Gene Ontology (GO) - Molecular Function for MRPL3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003723 RNA binding HDA 22658674
GO:0003735 structural constituent of ribosome IEA,IBA 21873635
genes like me logo Genes that share ontologies with MRPL3: view
genes like me logo Genes that share phenotypes with MRPL3: view

Human Phenotype Ontology for MRPL3 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for MRPL3

No data available for Molecular function , Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for MRPL3 Gene

Localization for MRPL3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for MRPL3 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 MRPL3 gene
Compartment Confidence
mitochondrion 5
nucleus 2
cytosol 2
cytoskeleton 1

Gene Ontology (GO) - Cellular Components for MRPL3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005622 intracellular IEA --
GO:0005739 mitochondrion IDA,IBA 28892042
GO:0005743 mitochondrial inner membrane TAS --
GO:0005762 mitochondrial large ribosomal subunit IDA,IBA 20186120
GO:0005840 ribosome IEA --
genes like me logo Genes that share ontologies with MRPL3: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for MRPL3 Gene

Pathways & Interactions for MRPL3 Gene

genes like me logo Genes that share pathways with MRPL3: view

Gene Ontology (GO) - Biological Process for MRPL3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006412 translation TAS,IEA 2891103
GO:0070125 mitochondrial translational elongation TAS --
GO:0070126 mitochondrial translational termination TAS --
genes like me logo Genes that share ontologies with MRPL3: view

No data available for SIGNOR curated interactions for MRPL3 Gene

Drugs & Compounds for MRPL3 Gene

No Compound Related Data Available

Transcripts for MRPL3 Gene

mRNA/cDNA for MRPL3 Gene

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

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for MRPL3

Alternative Splicing Database (ASD) splice patterns (SP) for MRPL3 Gene

ExUns: 1a · 1b · 1c · 1d ^ 2a · 2b ^ 3 ^ 4 ^ 5a · 5b ^ 6 ^ 7a · 7b ^ 8a · 8b · 8c ^ 9 ^ 10 ^ 11a · 11b
SP1: - - -
SP2: - -
SP3: - - - -
SP4: - - -
SP5: - - -
SP6:
SP7:

Relevant External Links for MRPL3 Gene

GeneLoc Exon Structure for
MRPL3

Expression for MRPL3 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for MRPL3 Gene

Protein differential expression in normal tissues from HIPED for MRPL3 Gene

This gene is overexpressed in Pancreas (28.5), Platelet (7.1), and Peripheral blood mononuclear cells (6.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for MRPL3 Gene



Protein tissue co-expression partners for MRPL3 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for MRPL3

SOURCE GeneReport for Unigene cluster for MRPL3 Gene:

Hs.205163

Evidence on tissue expression from TISSUES for MRPL3 Gene

  • Nervous system(4.4)
  • Lung(2.3)

Phenotype-based relationships between genes and organs from Gene ORGANizer for MRPL3 Gene

Germ Layers:
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • respiratory
Regions:
Head and neck:
  • ear
Thorax:
  • heart
  • heart valve
Abdomen:
  • liver
genes like me logo Genes that share expression patterns with MRPL3: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for MRPL3 Gene

Orthologs for MRPL3 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for MRPL3 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia MRPL3 31 30
  • 99.52 (n)
OneToOne
dog
(Canis familiaris)
Mammalia MRPL3 31 30
  • 89.72 (n)
OneToOne
cow
(Bos Taurus)
Mammalia MRPL3 31 30
  • 87.55 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Mrpl3 17 31 30
  • 83.43 (n)
rat
(Rattus norvegicus)
Mammalia Mrpl3 30
  • 83.14 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia MRPL3 31
  • 77 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia MRPL3 31
  • 72 (a)
OneToOne
chicken
(Gallus gallus)
Aves MRPL3 31 30
  • 69.18 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia MRPL3 31
  • 61 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia mrpl3 30
  • 71.06 (n)
Str.20499 30
African clawed frog
(Xenopus laevis)
Amphibia Xl.8380 30
zebrafish
(Danio rerio)
Actinopterygii mrpl3 31 30
  • 66.78 (n)
OneToOne
-- 30
fruit fly
(Drosophila melanogaster)
Insecta mRpL3 31 32 30
  • 49.55 (n)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP000857 30
  • 46.91 (n)
worm
(Caenorhabditis elegans)
Secernentea mrps-18C 31 30
  • 49.93 (n)
OneToOne
C26E6.6 32
  • 40 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes MRPL9 33 31 30
  • 50.33 (n)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_ADL129W 30
  • 47.22 (n)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0E16039g 30
  • 44.79 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons RPL3P 30
  • 49.63 (n)
rice
(Oryza sativa)
Liliopsida Os01g0251100 30
  • 51.52 (n)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes mrpl9 30
  • 49.54 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 49 (a)
OneToOne
bread mold
(Neurospora crassa)
Ascomycetes NCU06749 30
  • 45.13 (n)
Species where no ortholog for MRPL3 was found in the sources mined by GeneCards:
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • 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)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for MRPL3 Gene

ENSEMBL:
Gene Tree for MRPL3 (if available)
TreeFam:
Gene Tree for MRPL3 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for MRPL3: view image

Paralogs for MRPL3 Gene

Pseudogenes.org Pseudogenes for MRPL3 Gene

genes like me logo Genes that share paralogs with MRPL3: view

No data available for Paralogs for MRPL3 Gene

Variants for MRPL3 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for MRPL3 Gene

SNP ID Clinical significance and condition Chr 03 pos Variation AA Info Type
675563 Benign: not provided 131,471,128(-) T/C INTRON_VARIANT
676830 Benign: not provided 131,501,384(-) A/T INTRON_VARIANT
676946 Likely Benign: not provided 131,500,282(-) A/C INTRON_VARIANT
678512 Benign: not provided 131,500,226(-) C/T INTRON_VARIANT
678513 Benign: not provided 131,498,474(-) G/A INTRON_VARIANT

Additional dbSNP identifiers (rs#s) for MRPL3 Gene

Structural Variations from Database of Genomic Variants (DGV) for MRPL3 Gene

Variant ID Type Subtype PubMed ID
esv3597781 CNV gain 21293372
nsv1006656 CNV gain 25217958
nsv829724 CNV gain 17160897

Variation tolerance for MRPL3 Gene

Residual Variation Intolerance Score: 60.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.50; 43.81% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for MRPL3 Gene

Human Gene Mutation Database (HGMD)
MRPL3
SNPedia medical, phenotypic, and genealogical associations of SNPs for
MRPL3

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MRPL3 Gene

Disorders for MRPL3 Gene

MalaCards: The human disease database

(3) MalaCards diseases for MRPL3 Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, and GeneCards

- elite association - COSMIC cancer census association via MalaCards
Search MRPL3 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

RM03_HUMAN
  • Combined oxidative phosphorylation deficiency 9 (COXPD9) [MIM:614582]: A mitochondrial disease characterized by failure to thrive, poor feeding, hypertrophic cardiomyopathy, hepatomegaly, and psychomotor retardation. Death in infancy has been observed in some cases. {ECO:0000269 PubMed:21786366}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for MRPL3

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 MRPL3: view

No data available for Genatlas for MRPL3 Gene

Publications for MRPL3 Gene

  1. Cloning and characterization of a human ribosomal protein gene with enhanced expression in fetal and neoplastic cells. (PMID: 2891103) Ou JH … Rutter WJ (Nucleic acids research 1987) 2 3 4 54
  2. 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
  3. Structure of the large ribosomal subunit from human mitochondria. (PMID: 25278503) Brown A … Ramakrishnan V (Science (New York, N.Y.) 2014) 3 4 54
  4. Exome sequencing identifies MRPL3 mutation in mitochondrial cardiomyopathy. (PMID: 21786366) Galmiche L … Rötig A (Human mutation 2011) 3 4 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 MRPL3 Gene

Sources for MRPL3 Gene