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MRPL3 Gene(Protein Coding)

Mitochondrial Ribosomal Protein L3

GCID:
GC03M131462
GIFtS:
47
Genes Participants
UDN Logo

Aliases for MRPL3 Gene

Aliases for MRPL3 Gene

  • Mitochondrial Ribosomal Protein L3 2 3 5
  • Mitochondrial Large Ribosomal Subunit Protein UL3m 3 4
  • MRP-L3 3 4
  • RPML3 3 4
  • L3mt 3 4
  • MRL3 3 4
  • 39S Ribosomal Protein L3, Mitochondrial 3
  • 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. Among its related pathways are Viral mRNA Translation and Organelle biogenesis and maintenance. 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 , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for MRPL3 Gene

Genomics for MRPL3 Gene

Products:

  1. Regulatory Element

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 661.6 +0.4 401 2.4 MLX ZFP64 DMAP1 IRF4 YY1 ZNF213 E2F8 ZNF143 SP3 NFYC MRPL3 LOC105374114 PIK3R4 ENSG00000261167 DNAJC13
GH03J131380 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE dbSUPER 10.3 +121.5 121495 2.6 HDGF ATF1 ARID4B SIN3A FEZF1 DMAP1 ZBTB7B ZNF48 YY1 POLR2B NUDT16 LOC339874 PIK3R4 ATP2C1 MRPL3 ASTE1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around MRPL3 on UCSC Golden Path with GeneCards custom track

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

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 Structure • Gene Density

RefSeq DNA sequence for MRPL3 Gene

Proteins for MRPL3 Gene

Products:

  1. Antibody
  2. Protein
  3. Assay

  • 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). 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

Protein Expression for MRPL3 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for MRPL3 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for MRPL3 Gene

ENSEMBL proteins:
REFSEQ proteins:

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

InterPro:
Blocks:
ProtoNet:

Suggested Antigen Peptide Sequences for MRPL3 Gene

GenScript: Design optimal peptide antigens:

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

Products:

  1. Animal Model
  2. CRISPR
  3. miRNA
  4. Inhibitory RNA
  5. Clone
  6. Cell Line

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 --
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

Clone Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , 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
cytosol 3
nucleus 2

Gene Ontology (GO) - Cellular Components for MRPL3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005622 intracellular IEA --
GO:0005739 mitochondrion IEA,IBA --
GO:0005743 mitochondrial inner membrane TAS --
GO:0005762 mitochondrial large ribosomal subunit IDA 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

Products:

  1. Drug
No Compound Related Data Available

Transcripts for MRPL3 Gene

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone

mRNA/cDNA for MRPL3 Gene

(1) REFSEQ mRNAs :
(5) Additional mRNA sequences :
(497) Selected AceView cDNA sequences:
(10) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for MRPL3 Gene

Mitochondrial ribosomal protein L3:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

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

Clone Products

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
ECgene alternative splicing isoforms for
MRPL3

Expression for MRPL3 Gene

Products:

  1. Primer
  2. Gene Expression Assay

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

mRNA expression in normal human tissues for MRPL3 Gene
mRNA expression by GTEx for MRPL3 GenemRNA expression by BioGPS 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

NURSA nuclear receptor signaling pathways regulating expression of MRPL3 Gene:

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 34 33
  • 99.52 (n)
 OneToOne
dog
(Canis familiaris)
 Mammalia MRPL3 34 33
  • 89.72 (n)
 OneToOne
cow
(Bos Taurus)
 Mammalia MRPL3 34 33
  • 87.55 (n)
 OneToOne
mouse
(Mus musculus)
 Mammalia Mrpl3 16 34 33
  • 83.43 (n)
rat
(Rattus norvegicus)
 Mammalia Mrpl3 33
  • 83.14 (n)
platypus
(Ornithorhynchus anatinus)
 Mammalia MRPL3 34
  • 77 (a)
 OneToOne
oppossum
(Monodelphis domestica)
 Mammalia MRPL3 34
  • 72 (a)
 OneToOne
chicken
(Gallus gallus)
 Aves MRPL3 34 33
  • 69.18 (n)
 OneToOne
lizard
(Anolis carolinensis)
 Reptilia MRPL3 34
  • 61 (a)
 OneToOne
tropical clawed frog
(Silurana tropicalis)
 Amphibia mrpl3 33
  • 71.06 (n)
Str.20499 33
African clawed frog
(Xenopus laevis)
 Amphibia Xl.8380 33
zebrafish
(Danio rerio)
 Actinopterygii mrpl3 34 33
  • 66.78 (n)
 OneToOne
-- 33
fruit fly
(Drosophila melanogaster)
 Insecta mRpL3 34 35 33
  • 49.55 (n)
 OneToOne
African malaria mosquito
(Anopheles gambiae)
 Insecta AgaP_AGAP000857 33
  • 46.91 (n)
worm
(Caenorhabditis elegans)
 Secernentea mrps-18C 34 33
  • 49.93 (n)
 OneToOne
C26E6.6 35
  • 40 (a)
baker's yeast
(Saccharomyces cerevisiae)
 Saccharomycetes MRPL9 36 34 33
  • 50.33 (n)
A. gosspyii yeast
(Ashbya gossypii)
 Saccharomycetes AGOS_ADL129W 33
  • 47.22 (n)
K. lactis yeast
(Kluyveromyces lactis)
 Saccharomycetes KLLA0E16039g 33
  • 44.79 (n)
thale cress
(Arabidopsis thaliana)
 eudicotyledons RPL3P 33
  • 49.63 (n)
rice
(Oryza sativa)
 Liliopsida Os01g0251100 33
  • 51.52 (n)
fission yeast
(Schizosaccharomyces pombe)
 Schizosaccharomycetes mrpl9 33
  • 49.54 (n)
sea squirt
(Ciona savignyi)
 Ascidiacea -- 34
  • 49 (a)
 OneToOne
bread mold
(Neurospora crassa)
 Ascomycetes NCU06749 33
  • 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

Products:

  1. SNP Genotyping and Copy Number Assay

Sequence variations from dbSNP and Humsavar for MRPL3 Gene

SNP ID Clin Chr 03 pos Variation AA Info Type
rs148679749 conflicting-interpretations-of-pathogenicity, likely-benign, not provided, not specified 131,462,839(-) C/T coding_sequence_variant, missense_variant
rs387906962 pathogenic, Combined oxidative phosphorylation deficiency 9, Combined oxidative phosphorylation deficiency 9 (COXPD9) [MIM:614582] 131,462,820(-) G/C coding_sequence_variant, missense_variant
rs780595770 pathogenic, not provided 131,487,679(-) C/G/T splice_donor_variant
rs1057523049 likely-benign, not specified 131,469,780(-) G/A intron_variant
rs147025268 likely-benign, not specified 131,471,294(-) C/T intron_variant

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

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

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

(1) MalaCards diseases for MRPL3 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, and GeneCards

Disorder Aliases PubMed IDs
combined oxidative phosphorylation deficiency 9
  • coxpd9
- 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 58
  2. Structure of the large ribosomal subunit from human mitochondria. (PMID: 25278503) Brown A … Ramakrishnan V (Science (New York, N.Y.) 2014) 3 4 58
  3. Exome sequencing identifies MRPL3 mutation in mitochondrial cardiomyopathy. (PMID: 21786366) Galmiche L … Rötig A (Human mutation 2011) 3 4 58
  4. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson SL … O'Brien SJ (PloS one 2010) 3 44 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 MRPL3 Gene

Sources for MRPL3 Gene

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