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MRPL46 Gene

protein-coding   GIFtS: 50
GCID: GC15M089002

Mitochondrial Ribosomal Protein L46

(Previous name: chromosome 15 open reading frame 4)
(Previous symbol: C15orf4)
  See related disease
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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This gene clusters with an RNA gene
Subcategory (RNA class): lncRNA

Quality score for the ORGUL clustered with this gene is 3

Aliases
Mitochondrial Ribosomal Protein L461 2     MRP-L462 3
C15orf41 2 3     P2ECSL2 3
L46mt2 3     Chromosome 15 Open Reading Frame 41
LIECG22 3     39S Ribosomal Protein L46, Mitochondrial2

External Ids:    HGNC: 11921   Entrez Gene: 265892   Ensembl: ENSG000002594947   OMIM: 6118515   UniProtKB: Q9H2W63   
ORGUL members:         

Export aliases for MRPL46 gene to outside databases

Previous GC identifers: GC15P085369 GC15M082287 GC15M086589 GC15M086733 GC15M086734 GC15M086803 GC15M065114


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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 malaria. GO annotations related to this gene include hydrolase activity.




(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000015.10  NC_018926.2  NT_010194.18  
Regulatory elements:
   Regulatory transcription factor binding sites in the MRPL46 gene promoter:
         GR   LHX3b/Lhx3b   ISGF-3   p53   Brachyury   GR-beta   MyoD   STAT5A   LHX3a/Lhx3a   GR-alpha   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidMRPL46 promoter sequence
   Search Chromatin IP Primers for MRPL46

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat MRPL46


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 15q25.3   Ensembl cytogenetic band:  15q25.3   HGNC cytogenetic band: 15q25.3

MRPL46 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
MRPL46 gene location

GeneLoc information about chromosome 15         GeneLoc Exon Structure

GeneLoc location for GC15M089002:  view genomic region     (about GC identifiers)

Start:
89,002,707 bp from pter      End:
89,010,650 bp from pter
Size:
7,944 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: RM46_HUMAN, Q9H2W6 (See protein sequence)
Recommended Name: 39S ribosomal protein L46, mitochondrial precursor  
Size: 279 amino acids; 31705 Da
Sequence caution: Sequence=AAG33698.1; Type=Erroneous initiation;
Secondary accessions: B2RD75 Q9HBU8

Explore the universe of human proteins at neXtProt for MRPL46: NX_Q9H2W6

Explore proteomics data for MRPL46 at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys132, Lys203, Lys230
  • Modification sites at PhosphoSitePlus

  • See MRPL46 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_071446.2  
    ENSEMBL proteins: 
     ENSP00000312311   ENSP00000453881  

    MRPL46 Human Recombinant Protein Products:

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    MRPL: Mitochondrial ribosomal proteins / large subunits

    2 InterPro protein domains:
     IPR015797 NUDIX_hydrolase_dom-like
     IPR021757 Ribosomal_L46

    Graphical View of Domain Structure for InterPro Entry Q9H2W6

    ProtoNet protein and cluster: Q9H2W6

    1 Blocks protein domain: IPB000086 NUDIX hydrolase

    UniProtKB/Swiss-Prot: RM46_HUMAN, Q9H2W6
    Similarity: Belongs to the ribosomal protein L46 family


    MRPL46 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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         Gene Ontology (GO): 2 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003674molecular_function ND--
    GO:0016787hydrolase activity IEA--
         
    MRPL46 for ontologies           About GeneDecksing


    Animal Models:
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    miRNA
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    miRTarBase miRNAs that target MRPL46:
    hsa-mir-615-3p (MIRT039917), hsa-mir-744-5p (MIRT037398), hsa-mir-484 (MIRT041746)

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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    RM46_HUMAN, Q9H2W6: Mitochondrion
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    mitochondrion5

    Gene Ontology (GO): 3 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005575cellular_component ND--
    GO:0005739mitochondrion IEA--
    GO:0005840ribosome IEA--

    MRPL46 for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for MRPL46
    Interactions:

        Search GeneGlobe Interaction Network for MRPL46

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for MRPL46 (Q9H2W62, 3 ENSP000003123114) via UniProtKB, MINT, STRING, and/or I2D (see all 279)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ICT1Q141972, 3, ENSP000003015854MINT-8079030 I2D: score=1 STRING: ENSP00000301585
    MRPL19P494062, ENSP000003774864MINT-8079030 STRING: ENSP00000377486
    MRPL15Q9P0152, ENSP000002601024MINT-8079030 STRING: ENSP00000260102
    MRPL3P090012, ENSP000002649954MINT-8079030 STRING: ENSP00000264995
    MRPL1Q9BYD62, ENSP000003150174MINT-8079030 STRING: ENSP00000315017
    About this table

    Gene Ontology (GO): 1 biological process term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0008150biological_process ND--

    MRPL46 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for MRPL46 (RM46)



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for MRPL46 gene: 
    NM_022163.3  

    Unigene Cluster for MRPL46:

    Mitochondrial ribosomal protein L46
    Hs.534261  [show with all ESTs]
    Unigene Representative Sequence: BI913482
    5 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000312475(uc002bmj.2) ENST00000558660(uc002bmi.1) ENST00000559538
    ENST00000560703 ENST00000558531
    miRNA
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      QuantiFast Probe-based Assays in human, mouse, rat MRPL46

    Additional mRNA sequence: 

    AF205435.1 AF210056.1 AK315434.1 BC017883.1 

    8 DOTS entries:

    DT.416472  DT.86837468  DT.91819274  DT.95156450  DT.86835780  DT.100026629  DT.121018697  DT.92423382 

    Selected AceView cDNA sequences (see all 254):

    BQ005617 AA707064 AL707845 AA310699 AK125793 BU521385 AI433200 CA308006 
    BX280527 BQ010609 CA866497 CK818885 AI214969 BU624057 BU620038 BM968277 
    BC001242 AI469869 BQ001942 AI744876 BQ001929 BX477557 AA128642 CR601389 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    MRPL46 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TGTGGGTCAC
    MRPL46 Expression
    About this image

    MRPL46 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    MRPL46 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.534261
        Custom PCR Arrays for MRPL46
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MRPL46

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of animals.

    Orthologs for MRPL46 gene from Selected species (see all 15)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Mrpl461 , 5 mitochondrial ribosomal protein L461, 5 82.73(n)1
    81.52(a)1
      7 (44.80 cM)5
    673081  NM_023331.21  NP_075820.11 
     787752365 
    chicken
    (Gallus gallus)
    Aves MRPL461 mitochondrial ribosomal protein L46 63.05(n)
    56.59(a)
      415499  NM_001277112.1  NP_001264041.1 
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.57952 Xenopus laevis transcribed sequence with weak similarity more 76.27(n)    BX847156.1 
    zebrafish
    (Danio rerio)
    Actinopterygii mrpl461 mitochondrial ribosomal protein L46 57.91(n)
    49.58(a)
      436791  NM_001002518.1  NP_001002518.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta mRpL461 mitochondrial ribosomal protein L46 48.85(n)
    38.87(a)
      38230  NM_139404.3  NP_647661.1 
    worm
    (Caenorhabditis elegans)
    Secernentea mrpl-461 mrpl-46 43.9(n)
    33.66(a)
      190311  NM_067593.4  NP_499994.4 


    ENSEMBL Gene Tree for MRPL46 (if available)
    TreeFam Gene Tree for MRPL46 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for MRPL46 gene
    1 SIMAP similar gene for MRPL46 using alignment to 2 protein entries:     RM46_HUMAN (see all proteins):
    FLJ00124

    MRPL46 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for MRPL46 (see all 162)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 15 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1851331611,2
    --89002247(+) ACTCTA/GGGCTA 1 -- ds50010--------
    rs1910772351,2
    --89002267(+) CTGGCC/TGTGAT 1 -- ds50010--------
    rs1835422581,2
    --89002293(+) ATGGAC/GATAAA 1 -- ds50010--------
    rs789391651,2
    C,F--89002339(+) GTTAAG/TACATA 1 -- ds50012Minor allele frequency- T:0.07CSA WA 120
    rs1878831491,2
    --89002381(+) GGAAGC/GGGGGG 1 -- ds50010--------
    rs1128046311,2
    F--89002461(+) CAAACT/CGGAAA 1 -- ds50012Minor allele frequency- C:0.04CSA WA 120
    rs1443850691,2
    --89002483(+) CTATAC/TAGAAC 1 -- ds50010--------
    rs1466472911,2
    --89002523(+) TTCACA/GGAATT 1 -- ds50010--------
    rs1414231481,2
    C--89002539(+) CTTTCA/GGGAAG 1 -- ds50010--------
    rs1438535081,2
    --89002651(+) AGACAC/GCCTAA 1 -- ds50010--------

    HapMap Linkage Disequilibrium report for MRPL46 (89002707 - 89010650 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 2 variations for MRPL46:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv904476CNV Gain21882294
    nsv833085CNV Gain+Loss17160897

    Site Specific Mutation Identification with PCR Assays
    Search QIAGEN SeqTarget long-range PCR primers for resequencing MRPL46
    DNA2.0 Custom Variant and Variant Library Synthesis for MRPL46

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 611851    OMIM disorders: --

    1 disease for MRPL46:    
    About MalaCards
    malaria


    MRPL46 for disorders           About GeneDecksing

    Genetic Association Database (GAD): MRPL46
    Human Genome Epidemiology (HuGE) Navigator: MRPL46 (2 documents)

    Export disorders for MRPL46 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for MRPL46 gene, integrated from 10 sources (see all 17):
    (articles sorted by number of sources associating them with MRPL46)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Cloning, mapping and expression analysis of C15orf4, a novel human gene with homology to the yeast mitochondrial ribosomal protein Ym130 gene. (PubMed id 11761714)1, 2, 3 Carim-Todd L.... Escarceller M. (DNA Seq. 2001)
    2. The large subunit of the mammalian mitochondrial ribosome. Analysis of the complement of ribosomal proteins present. (PubMed id 11551941)1, 2, 3 Koc E.C.... Spremulli L.L. (J. Biol. Chem. 2001)
    3. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (Mol. Med. 2010)
    4. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PubMed id 20877624)1, 4 Hendrickson S.L....O'Brien S.J. (PLoS ONE 2010)
    5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    6. Quantitative study of the interactome of PKCIP involved in the EGF-induced tumor cell chemotaxis. (PubMed id 23402259)1 Chen R....Zhang N. (J. Proteome Res. 2013)
    7. p32/gC1qR is indispensable for fetal development and mitochondrial translation: importance of its RNA-binding ability. (PubMed id 22904065)1 Yagi M....Kang D. (Nucleic Acids Res. 2012)
    8. A census of human soluble protein complexes. (PubMed id 22939629)1 Havugimana P.C....Emili A. (Cell 2012)
    9. Initial characterization of the human central proteome. (PubMed id 21269460)2 Burkard T.R.... Colinge J. (BMC Syst. Biol. 2011)
    10. A proteome-wide, quantitative survey of in vivo ubiquitylation sites reveals widespread regulatory roles. (PubMed id 21890473)1 Wagner S.A....Choudhary C. (amp 2011)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 26589 HGNC: 1192 AceView: DET1andMRPL46 Ensembl:ENSG00000259494 euGenes: HUgn26589
    ECgene: MRPL46 H-InvDB: MRPL46

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

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    NameDescription
    PharmGKB entry for MRPL46 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for MRPL46 gene:
    Search GeneIP for patents involving MRPL46

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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