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Aliases for MRPL46 Gene

Aliases for MRPL46 Gene

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

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

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. Among its related pathways are Mitochondrial translation and Organelle biogenesis and maintenance. GO annotations related to this gene include hydrolase activity.

No data available for CIViC summary , UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for MRPL46 Gene

Genomics for MRPL46 Gene

Regulatory Elements for MRPL46 Gene

Enhancers for MRPL46 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH15G088655 1.4 Ensembl ENCODE dbSUPER 10.7 -189.1 -189136 3.0 PKNOX1 ZFP64 BMI1 RAD21 EGR1 CBX5 ZNF143 RELB IKZF2 CREM ISG20 AEN MIR7-2 ENSG00000173867 MRPL46 MRPS11 HAPLN3 PIR50540
GH15G088393 1.2 ENCODE dbSUPER 9.8 +71.9 71939 3.0 HDGF ATF1 ARNT E2F7 ZNF766 GATA2 KLF13 ZNF263 CAVIN1 NCOA1 MRPS11 MRPL46 ENSG00000173867 LOC105370959
GH15G088659 1 Ensembl ENCODE dbSUPER 10.7 -192.3 -192347 1.2 JUND POLR2A FOS ISG20 AEN ENSG00000173867 MRPL46 MRPS11 HAPLN3 ACAN PIR50540
GH15G088388 1 ENCODE dbSUPER 10 +78.5 78535 0.2 SOX13 SAP130 BACH1 CEBPG ZNF316 GATA4 NR2F6 TRIM24 CREM MIXL1 MRPS11 MRPL46 ENSG00000173867 LOC105370959
GH15G088380 0.9 dbSUPER 10.2 +83.6 83556 6.1 NFIB ZBTB7B ZNF366 ZNF350 FOS EGR2 CAVIN1 ZNF592 MEF2D CREB3 MRPS11 MRPL46 ENSG00000173867 HAPLN3 NTRK3 LOC105370959
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around MRPL46 on UCSC Golden Path with GeneCards custom track

Promoters for MRPL46 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000080773 -81 1801 PKNOX1 FOXA2 ARNT ARID4B SIN3A DMAP1 ZNF2 ZBTB7B YY1 ZNF766

Genomic Location for MRPL46 Gene

Chromosome:
15
Start:
88,459,476 bp from pter
End:
88,467,419 bp from pter
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). 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 posLast=132132, 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:

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

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 IBA --
GO:0016787 hydrolase activity IEA --
genes like me logo Genes that share ontologies with MRPL46: view

Phenotypes for MRPL46 Gene

GenomeRNAi human phenotypes for MRPL46:
genes like me logo Genes that share phenotypes with MRPL46: view

Animal Model Products

CRISPR Products

miRNA for MRPL46 Gene

miRTarBase miRNAs that target MRPL46

Inhibitory RNA Products

Clone Products

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

Gene Ontology (GO) - Cellular Components for MRPL46 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005575 cellular_component ND --
GO:0005654 nucleoplasm IDA --
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 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

Unigene Clusters for MRPL46 Gene

Mitochondrial ribosomal protein L46:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

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

No ASD Table

Relevant External Links for MRPL46 Gene

GeneLoc Exon Structure for
MRPL46
ECgene alternative splicing isoforms for
MRPL46

Expression for MRPL46 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP 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, PaxDb, MaxQB, and MOPED for MRPL46 Gene



Protein tissue co-expression partners for MRPL46 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of MRPL46 Gene:

MRPL46

SOURCE GeneReport for Unigene cluster for MRPL46 Gene:

Hs.534261

Evidence on tissue expression from TISSUES for MRPL46 Gene

  • Muscle(4.4)
  • Nervous system(4.4)
  • Heart(2.2)
genes like me logo Genes that share expression patterns with MRPL46: 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 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 34 35
  • 98.92 (n)
dog
(Canis familiaris)
Mammalia MRPL46 34 35
  • 85.3 (n)
cow
(Bos Taurus)
Mammalia MRPL46 34 35
  • 83.63 (n)
mouse
(Mus musculus)
Mammalia Mrpl46 34 16 35
  • 82.73 (n)
rat
(Rattus norvegicus)
Mammalia Mrpl46 34
  • 81.83 (n)
oppossum
(Monodelphis domestica)
Mammalia MRPL46 35
  • 61 (a)
OneToOne
chicken
(Gallus gallus)
Aves MRPL46 34 35
  • 63.05 (n)
tropical clawed frog
(Silurana tropicalis)
Amphibia mrpl46 34
  • 63.89 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.5795 34
zebrafish
(Danio rerio)
Actinopterygii mrpl46 34 35
  • 57.91 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP006684 34
  • 50.53 (n)
fruit fly
(Drosophila melanogaster)
Insecta mRpL46 34 35
  • 48.85 (n)
worm
(Caenorhabditis elegans)
Secernentea mrpl-46 34 35
  • 43.9 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes MRPL17 37
sea squirt
(Ciona savignyi)
Ascidiacea CSA.6462 35
  • 28 (a)
OneToOne
Species where no ortholog for MRPL46 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)
  • 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 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)

Paralogs for MRPL46 Gene

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

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 from dbSNP and Humsavar for MRPL46 Gene

SNP ID Clin Chr 15 pos Sequence Context AA Info Type
rs193920884 Uncertain significance 88,465,713(-) ACCAG(C/T)GACTG upstream-variant-2KB, reference, stop-gained
rs1000088800 -- 88,466,395(+) GATTA(G/T)TTGGT intron-variant, upstream-variant-2KB
rs1000183225 -- 88,466,131(+) CTTTC(A/C)AGAGG intron-variant, upstream-variant-2KB
rs1000531418 -- 88,460,479(+) GTATC(C/T)GTAAT intron-variant
rs1000988299 -- 88,459,727(+) GAAAA(C/G)TCTCC reference, missense

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)

Relevant External Links for MRPL46 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
MRPL46

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

Disorders for MRPL46 Gene

Relevant External Links for MRPL46

Genetic Association Database (GAD)
MRPL46
Human Genome Epidemiology (HuGE) Navigator
MRPL46
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
MRPL46

No disorders were found for MRPL46 Gene.

No data available for MalaCards , 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 E.C. … Spremulli L.L. (J. Biol. Chem. 2001) 2 3 4 64
  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 Seq. 2001) 2 3 4 64
  3. Structure of the large ribosomal subunit from human mitochondria. (PMID: 25278503) Brown A. … Ramakrishnan V. (Science 2014) 3 4 64
  4. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose J.E. … Uhl G.R. (Mol. Med. 2010) 3 46 64
  5. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson S.L. … O'Brien S.J. (PLoS ONE 2010) 3 46 64

Products for MRPL46 Gene

Sources for MRPL46 Gene

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