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Aliases for MRPL19 Gene

Aliases for MRPL19 Gene

  • Mitochondrial Ribosomal Protein L19 2 3 5
  • Mitochondrial Large Ribosomal Subunit Protein BL19m 3 4
  • 39S Ribosomal Protein L15, Mitochondrial 3 4
  • MRP-L15 3 4
  • MRP-L19 3 4
  • MRPL15 3 4
  • L15mt 3 4
  • L19mt 3 4
  • 39S Ribosomal Protein L19, Mitochondrial 3
  • 39S Ribosomal Protein L19 2
  • KIAA0104 4
  • RPML15 3
  • RLX1 3

External Ids for MRPL19 Gene

Previous GeneCards Identifiers for MRPL19 Gene

  • GC02P076011
  • GC02P075831
  • GC02P075848
  • GC02P075785
  • GC02P075727
  • GC02P075873
  • GC02P075611

Summaries for MRPL19 Gene

Entrez Gene Summary for MRPL19 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. [provided by RefSeq, Jul 2008]

GeneCards Summary for MRPL19 Gene

MRPL19 (Mitochondrial Ribosomal Protein L19) is a Protein Coding gene. Diseases associated with MRPL19 include Dyslexia and Reading Disorder. Among its related pathways are Organelle biogenesis and maintenance and Mitochondrial translation. Gene Ontology (GO) annotations related to this gene include structural constituent of ribosome.

Gene Wiki entry for MRPL19 Gene

Additional gene information for MRPL19 Gene

No data available for CIViC summary , UniProtKB/Swiss-Prot , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for MRPL19 Gene

Genomics for MRPL19 Gene

GeneHancer (GH) Regulatory Elements for MRPL19 Gene

Promoters and enhancers for MRPL19 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
GH02I075645 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 581.4 +0.2 233 2.1 HDGF PKNOX1 ARNT ZFP64 ARID4B SIN3A DMAP1 ZNF2 YY1 POLR2B MRPL19 GC02M075653
GH02I075604 Enhancer 1.5 FANTOM5 Ensembl ENCODE dbSUPER 10.8 -39.8 -39752 5.5 ARID4B ZNF2 ZNF48 GLIS2 ZNF143 ZNF548 RUNX3 ZHX2 REST MIER2 EVA1A ENSG00000221638 MRPL19 TACR1 GCFC2 GC02M075596
GH02I075709 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 7.6 +63.6 63568 2.5 SMAD1 ARNT ZFP64 ARID4B SIN3A DMAP1 ZNF2 YY1 SLC30A9 POLR2B GCFC2 GC02P075711 LOC105374813 MRPL19 ENSG00000270462
GH02I075599 Enhancer 1 Ensembl ENCODE dbSUPER 15.3 -45.1 -45060 4.3 SMARCC1 ZFP64 CEBPB JUND FOS NR2F6 FOSL2 FOXP2 GC02M075596 EVA1A MRPL19 ENSG00000221638 ENSG00000270696 GCFC2
GH02I075559 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE dbSUPER 5.4 -85.8 -85782 3.9 MLX ARID4B DMAP1 ZNF48 GLIS2 PAF1 SP3 SP5 JUNB MXD4 EVA1A ENSG00000270696 MRPL19 LOC101927884
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around MRPL19 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the MRPL19 gene promoter:

Genomic Locations for MRPL19 Gene

Genomic Locations for MRPL19 Gene
chr2:75,646,783-75,690,851
(GRCh38/hg38)
Size:
44,069 bases
Orientation:
Plus strand
chr2:75,873,909-75,917,977
(GRCh37/hg19)

Genomic View for MRPL19 Gene

Genes around MRPL19 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
MRPL19 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for MRPL19 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for MRPL19 Gene

Proteins for MRPL19 Gene

  • Protein details for MRPL19 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P49406-RM19_HUMAN
    Recommended name:
    39S ribosomal protein L19, mitochondrial
    Protein Accession:
    P49406
    Secondary Accessions:
    • Q53TX9
    • Q96Q52

    Protein attributes for MRPL19 Gene

    Size:
    292 amino acids
    Molecular mass:
    33535 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=AAY14972.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=BAA03494.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for MRPL19 Gene

neXtProt entry for MRPL19 Gene

Post-translational modifications for MRPL19 Gene

No Post-translational modifications

Other Protein References for MRPL19 Gene

No data available for DME Specific Peptides for MRPL19 Gene

Domains & Families for MRPL19 Gene

Gene Families for MRPL19 Gene

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

Protein Domains for MRPL19 Gene

Suggested Antigen Peptide Sequences for MRPL19 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P49406

UniProtKB/Swiss-Prot:

RM19_HUMAN :
  • Belongs to the bacterial ribosomal protein bL19 family.
Family:
  • Belongs to the bacterial ribosomal protein bL19 family.
genes like me logo Genes that share domains with MRPL19: view

Function for MRPL19 Gene

Phenotypes From GWAS Catalog for MRPL19 Gene

Gene Ontology (GO) - Molecular Function for MRPL19 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003735 structural constituent of ribosome IBA --
genes like me logo Genes that share ontologies with MRPL19: view

Phenotypes for MRPL19 Gene

GenomeRNAi human phenotypes for MRPL19:
genes like me logo Genes that share phenotypes with MRPL19: view

Inhibitory RNA Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for MRPL19 Gene

Localization for MRPL19 Gene

Subcellular locations from UniProtKB/Swiss-Prot for MRPL19 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 MRPL19 gene
Compartment Confidence
mitochondrion 5
nucleus 5
cytosol 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for MRPL19 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005622 intracellular IEA --
GO:0005634 nucleus IDA 10942595
GO:0005739 mitochondrion IDA --
GO:0005743 mitochondrial inner membrane TAS --
GO:0005762 mitochondrial large ribosomal subunit IDA 25278503
genes like me logo Genes that share ontologies with MRPL19: view

Pathways & Interactions for MRPL19 Gene

genes like me logo Genes that share pathways with MRPL19: view

Pathways by source for MRPL19 Gene

Gene Ontology (GO) - Biological Process for MRPL19 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 MRPL19: view

No data available for SIGNOR curated interactions for MRPL19 Gene

Drugs & Compounds for MRPL19 Gene

No Compound Related Data Available

Transcripts for MRPL19 Gene

Unigene Clusters for MRPL19 Gene

Mitochondrial ribosomal protein L19:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Alternative Splicing Database (ASD) splice patterns (SP) for MRPL19 Gene

No ASD Table

Relevant External Links for MRPL19 Gene

GeneLoc Exon Structure for
MRPL19
ECgene alternative splicing isoforms for
MRPL19

Expression for MRPL19 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for MRPL19 Gene

Protein differential expression in normal tissues from HIPED for MRPL19 Gene

This gene is overexpressed in Pancreas (12.5), Bone marrow stromal cell (9.6), Peripheral blood mononuclear cells (9.3), and Bone (8.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for MRPL19 Gene



Protein tissue co-expression partners for MRPL19 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of MRPL19 Gene:

MRPL19

SOURCE GeneReport for Unigene cluster for MRPL19 Gene:

Hs.44024

Evidence on tissue expression from TISSUES for MRPL19 Gene

  • Bone marrow(4.1)
  • Nervous system(3.2)
  • Kidney(2)
genes like me logo Genes that share expression patterns with MRPL19: 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 MRPL19 Gene

Orthologs for MRPL19 Gene

This gene was present in the common ancestor of animals.

Orthologs for MRPL19 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia MRPL19 33 34
  • 99.89 (n)
cow
(Bos Taurus)
Mammalia MRPL19 33 34
  • 87.44 (n)
dog
(Canis familiaris)
Mammalia MRPL19 33 34
  • 87.41 (n)
rat
(Rattus norvegicus)
Mammalia Mrpl19 33
  • 80.14 (n)
mouse
(Mus musculus)
Mammalia Mrpl19 33 16 34
  • 79.79 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia MRPL19 34
  • 75 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia MRPL19 34
  • 74 (a)
OneToOne
chicken
(Gallus gallus)
Aves MRPL19 33
  • 73.76 (n)
-- 34
  • 72 (a)
OneToMany
-- 34
  • 62 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia MRPL19 34
  • 58 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100496116 33
  • 67.76 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.22445 33
zebrafish
(Danio rerio)
Actinopterygii mrpl19 33 34
  • 61.9 (n)
wufc01c05 33
fruit fly
(Drosophila melanogaster)
Insecta mRpL19 35 33 34
  • 54.98 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP001139 33
  • 48.95 (n)
worm
(Caenorhabditis elegans)
Secernentea mrpl-19 33 34
  • 56.42 (n)
Y119C1B.4 35
  • 42 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 35 (a)
OneToMany
-- 34
  • 23 (a)
OneToMany
Species where no ortholog for MRPL19 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • 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)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • 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)

Evolution for MRPL19 Gene

ENSEMBL:
Gene Tree for MRPL19 (if available)
TreeFam:
Gene Tree for MRPL19 (if available)

Paralogs for MRPL19 Gene

Pseudogenes.org Pseudogenes for MRPL19 Gene

genes like me logo Genes that share paralogs with MRPL19: view

No data available for Paralogs for MRPL19 Gene

Variants for MRPL19 Gene

Sequence variations from dbSNP and Humsavar for MRPL19 Gene

SNP ID Clin Chr 02 pos Variation AA Info Type
rs1000060991 -- 75,656,187(+) G/T 3_prime_UTR_variant
rs1000581115 -- 75,651,202(+) G/C intron_variant
rs1000707357 -- 75,651,761(+) G/A intron_variant
rs1000779936 -- 75,646,770(+) A/T upstream_transcript_variant
rs1000868574 -- 75,657,894(+) T/A/C 3_prime_UTR_variant

Structural Variations from Database of Genomic Variants (DGV) for MRPL19 Gene

Variant ID Type Subtype PubMed ID
dgv152e55 CNV gain 17911159
dgv20n14 CNV gain 18776910
dgv5n43 CNV gain 19587683
dgv706e214 CNV gain 21293372
esv2759063 CNV gain+loss 17122850
esv3303063 CNV tandem duplication 20981092
nsv1006905 CNV gain 25217958
nsv438356 CNV loss 16468122
nsv441762 CNV gain 18776908
nsv514988 CNV loss 21397061
nsv834263 CNV gain 17160897

Variation tolerance for MRPL19 Gene

Residual Variation Intolerance Score: 49% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.42; 42.69% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for MRPL19 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
MRPL19

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MRPL19 Gene

Disorders for MRPL19 Gene

MalaCards: The human disease database

(2) MalaCards diseases for MRPL19 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
dyslexia
reading disorder
  • dyslexia
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for MRPL19

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 MRPL19: view

No data available for UniProtKB/Swiss-Prot and Genatlas for MRPL19 Gene

Publications for MRPL19 Gene

  1. A locus on 2p12 containing the co-regulated MRPL19 and C2ORF3 genes is associated to dyslexia. (PMID: 17309879) Anthoni H … Peyrard-Janvid M (Human molecular genetics 2007) 2 3 44 58
  2. The human mitochondrial ribosomal protein genes: mapping of 54 genes to the chromosomes and implications for human disorders. (PMID: 11543634) Kenmochi N … Tanaka T (Genomics 2001) 2 3 4 58
  3. Structure of the large ribosomal subunit from human mitochondria. (PMID: 25278503) Brown A … Ramakrishnan V (Science (New York, N.Y.) 2014) 3 4 58
  4. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 44 58
  5. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson SL … O'Brien SJ (PloS one 2010) 3 44 58

Products for MRPL19 Gene

Sources for MRPL19 Gene

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