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 MRPL46 Gene

Aliases for MRPL46 Gene

  • Mitochondrial Ribosomal Protein L46 2 3 5
  • LIECG2 2 3 4
  • P2ECSL 2 3 4
  • Mitochondrial Large Ribosomal Subunit Protein ML46 3 4
  • 39S Ribosomal Protein L46, Mitochondrial 3 4
  • C15orf4 3 4
  • MRP-L46 3 4
  • L46mt 3 4
  • Chromosome 15 Open Reading Frame 4 2
  • MRPL46 5

External Ids for MRPL46 Gene

Previous HGNC Symbols for MRPL46 Gene

  • C15orf4

Previous GeneCards Identifiers for MRPL46 Gene

  • GC15P085369
  • GC15M082287
  • GC15M086589
  • GC15M086733
  • GC15M086734
  • GC15M086803
  • GC15M089002
  • GC15M065114
  • GC15M088460
  • GC15M088461
  • GC15M088463

Summaries for MRPL46 Gene

Entrez Gene Summary for MRPL46 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 MRPL46 Gene

MRPL46 (Mitochondrial Ribosomal Protein L46) is a Protein Coding gene. Diseases associated with MRPL46 include Anemia, Congenital Dyserythropoietic, Type Iii and Anemia, Congenital Dyserythropoietic, Type Iv. Among its related pathways are Mitochondrial translation and Organelle biogenesis and maintenance. Gene Ontology (GO) annotations related to this gene include hydrolase activity.

No data available for CIViC Summary , UniProtKB/Swiss-Prot Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for MRPL46 Gene

Genomics for MRPL46 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for MRPL46 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 MRPL46 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for MRPL46

Top Transcription factor binding sites by QIAGEN in the MRPL46 gene promoter:
  • Brachyury
  • GR
  • GR-alpha
  • GR-beta
  • ISGF-3
  • Lhx3a
  • LHX3b
  • MyoD
  • p53
  • STAT5A

Genomic Locations for MRPL46 Gene

Latest Assembly
chr15:88,459,477-88,467,390
(GRCh38/hg38)
Size:
7,914 bases
Orientation:
Minus strand

Previous Assembly
chr15:89,002,709-89,010,619
(GRCh37/hg19 by Entrez Gene)
Size:
7,911 bases
Orientation:
Minus strand

chr15:89,002,707-89,010,650
(GRCh37/hg19 by Ensembl)
Size:
7,944 bases
Orientation:
Minus strand

Genomic View for MRPL46 Gene

Genes around MRPL46 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
MRPL46 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for MRPL46 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for MRPL46 Gene

Proteins for MRPL46 Gene

  • Protein details for MRPL46 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9H2W6-RM46_HUMAN
    Recommended name:
    39S ribosomal protein L46, mitochondrial
    Protein Accession:
    Q9H2W6
    Secondary Accessions:
    • B2RD75
    • Q9HBU8

    Protein attributes for MRPL46 Gene

    Size:
    279 amino acids
    Molecular mass:
    31705 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. mL46 is located at the central protuberance.
    SequenceCaution:
    • Sequence=AAG33698.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for MRPL46 Gene

neXtProt entry for MRPL46 Gene

Post-translational modifications for MRPL46 Gene

  • Ubiquitination at Lys132, Lys203, and Lys230
  • Modification sites at PhosphoSitePlus

Other Protein References for MRPL46 Gene

No data available for DME Specific Peptides for MRPL46 Gene

Domains & Families for MRPL46 Gene

Gene Families for MRPL46 Gene

Protein Domains for MRPL46 Gene

Suggested Antigen Peptide Sequences for MRPL46 Gene

GenScript: Design optimal peptide antigens:
  • P2ECSL (RM46_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9H2W6

UniProtKB/Swiss-Prot:

RM46_HUMAN :
  • Belongs to the mitochondrion-specific ribosomal protein mL46 family.
Family:
  • Belongs to the mitochondrion-specific ribosomal protein mL46 family.
genes like me logo Genes that share domains with MRPL46: view

Function for MRPL46 Gene

Phenotypes From GWAS Catalog for MRPL46 Gene

Gene Ontology (GO) - Molecular Function for MRPL46 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003674 molecular_function ND --
GO:0003735 structural constituent of ribosome IEA,IBA 21873635
GO:0016787 hydrolase activity IEA --
genes like me logo Genes that share ontologies with MRPL46: view
genes like me logo Genes that share phenotypes with MRPL46: view

miRNA for MRPL46 Gene

miRTarBase miRNAs that target MRPL46

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for MRPL46

No data available for Molecular function , Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for MRPL46 Gene

Localization for MRPL46 Gene

Subcellular locations from UniProtKB/Swiss-Prot for MRPL46 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 MRPL46 gene
Compartment Confidence
mitochondrion 5
nucleus 4

Subcellular locations from the

Human Protein Atlas (HPA)
  • Mitochondria (3)
  • Cell Junctions (1)
  • Nucleoplasm (1)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for MRPL46 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005654 nucleoplasm IDA --
GO:0005739 mitochondrion IEA,IDA 28892042
GO:0005743 mitochondrial inner membrane TAS --
GO:0005762 mitochondrial large ribosomal subunit IBA,IDA 25278503
GO:0005840 ribosome IEA --
genes like me logo Genes that share ontologies with MRPL46: view

Pathways & Interactions for MRPL46 Gene

genes like me logo Genes that share pathways with MRPL46: view

Gene Ontology (GO) - Biological Process for MRPL46 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008150 biological_process ND --
GO:0070125 mitochondrial translational elongation TAS --
GO:0070126 mitochondrial translational termination TAS --
genes like me logo Genes that share ontologies with MRPL46: view

No data available for SIGNOR curated interactions for MRPL46 Gene

Drugs & Compounds for MRPL46 Gene

No Compound Related Data Available

Transcripts for MRPL46 Gene

mRNA/cDNA for MRPL46 Gene

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

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for MRPL46

Alternative Splicing Database (ASD) splice patterns (SP) for MRPL46 Gene

No ASD Table

Relevant External Links for MRPL46 Gene

GeneLoc Exon Structure for
MRPL46

Expression for MRPL46 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for MRPL46 Gene

Protein differential expression in normal tissues from HIPED for MRPL46 Gene

This gene is overexpressed in Pancreas (9.7) and Peripheral blood mononuclear cells (7.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for MRPL46 Gene



Protein tissue co-expression partners for MRPL46 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for MRPL46

SOURCE GeneReport for Unigene cluster for MRPL46 Gene:

Hs.534261

Evidence on tissue expression from TISSUES for MRPL46 Gene

  • Nervous system(4.4)
  • Muscle(4.4)
  • Heart(2.2)
genes like me logo Genes that share expression patterns with MRPL46: view

Primer products for research

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 MRPL46 Gene

Orthologs for MRPL46 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for MRPL46 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia MRPL46 29 30
  • 98.92 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia MRPL46 29 30
  • 85.3 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia MRPL46 29 30
  • 83.63 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Mrpl46 29 16 30
  • 82.73 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Mrpl46 29
  • 81.83 (n)
Oppossum
(Monodelphis domestica)
Mammalia MRPL46 30
  • 61 (a)
OneToOne
Chicken
(Gallus gallus)
Aves MRPL46 29 30
  • 63.05 (n)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia mrpl46 29
  • 63.89 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.5795 29
Zebrafish
(Danio rerio)
Actinopterygii mrpl46 29 30
  • 57.91 (n)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP006684 29
  • 50.53 (n)
Fruit Fly
(Drosophila melanogaster)
Insecta mRpL46 29 30
  • 48.85 (n)
OneToOne
Worm
(Caenorhabditis elegans)
Secernentea mrpl-46 29 30
  • 43.9 (n)
OneToOne
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes MRPL17 32
Sea Squirt
(Ciona savignyi)
Ascidiacea CSA.6462 30
  • 28 (a)
OneToOne
Species where no ortholog for MRPL46 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • 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)
  • Lizard (Anolis carolinensis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Platypus (Ornithorhynchus anatinus)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • 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 MRPL46 Gene

ENSEMBL:
Gene Tree for MRPL46 (if available)
TreeFam:
Gene Tree for MRPL46 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for MRPL46: view image
Alliance of Genome Resources:
Additional Orthologs for MRPL46

Paralogs for MRPL46 Gene

(1) SIMAP similar genes for MRPL46 Gene using alignment to 2 proteins:

  • RM46_HUMAN
  • H0YN64_HUMAN
genes like me logo Genes that share paralogs with MRPL46: view

No data available for Paralogs for MRPL46 Gene

Variants for MRPL46 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for MRPL46 Gene

SNP ID Clinical significance and condition Chr 15 pos Variation AA Info Type
rs193920884 Uncertain Significance: Malignant tumor of prostate 88,465,713(-) G/A
NM_022163.4(MRPL46):c.289C>T (p.Arg97Ter)
NONSENSE
rs16941888 -- p.His106Tyr

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for MRPL46 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for MRPL46 Gene

Variant ID Type Subtype PubMed ID
nsv1138396 CNV deletion 24896259
nsv833085 CNV gain+loss 17160897

Variation tolerance for MRPL46 Gene

Residual Variation Intolerance Score: 67.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.56; 65.02% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for MRPL46 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
MRPL46
Leiden Open Variation Database (LOVD)
MRPL46

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MRPL46 Gene

Disorders for MRPL46 Gene

MalaCards: The human disease database

(3) MalaCards diseases for MRPL46 Gene - From: COP

- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for MRPL46

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with MRPL46: view

No data available for UniProtKB/Swiss-Prot and Genatlas for MRPL46 Gene

Publications for MRPL46 Gene

  1. The large subunit of the mammalian mitochondrial ribosome. Analysis of the complement of ribosomal proteins present. (PMID: 11551941) Koc EC … Spremulli LL (The Journal of biological chemistry 2001) 2 3 4
  2. Cloning, mapping and expression analysis of C15orf4, a novel human gene with homology to the yeast mitochondrial ribosomal protein Ym130 gene. (PMID: 11761714) Carim-Todd L … Escarceller M (DNA sequence : the journal of DNA sequencing and mapping 2001) 2 3 4
  3. Structures of the human mitochondrial ribosome in native states of assembly. (PMID: 28892042) Brown A … Ramakrishnan V (Nature structural & molecular biology 2017) 3 4
  4. Structure of the large ribosomal subunit from human mitochondria. (PMID: 25278503) Brown A … Ramakrishnan V (Science (New York, N.Y.) 2014) 3 4
  5. 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 40

Products for MRPL46 Gene

Sources for MRPL46 Gene