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MRPL47 Gene

protein-coding   GIFtS: 50
GCID: GC03M179306

Mitochondrial Ribosomal Protein L47

  See related diseases
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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Aliases
Mitochondrial Ribosomal Protein L471 2     MRP-L472 3
Nasopharyngeal Carcinoma Metastasis-Related 11 2     NCM12 3
Nasopharyngeal Carcinoma Metastasis-Related Protein 12 3     39S Ribosomal Protein L47, Mitochondrial2
L47mt2 3     

External Ids:    HGNC: 166521   Entrez Gene: 571292   Ensembl: ENSG000001365227   OMIM: 6118525   UniProtKB: Q9HD333   

Export aliases for MRPL47 gene to outside databases

Previous GC identifers: GC03M176055 GC03M180148 GC03M180708 GC03M180627 GC03M180788 GC03M176710


(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 MRPL47 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. This gene is immediately adjacent to the gene for BAF complex 53 kDa subunit protein a
(BAF53a), in a tail-to-tail orientation. Two transcript variants encoding different protein isoforms have been
identified. (provided by RefSeq, Jul 2008)

GeneCards Summary for MRPL47 Gene:
MRPL47 (mitochondrial ribosomal protein L47) is a protein-coding gene. Diseases associated with MRPL47 include nasopharyngitis, and leber hereditary optic neuropathy. GO annotations related to this gene include structural constituent of ribosome.




(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_000003.12  NC_018914.2  NT_005612.17  
Regulatory elements:
   Regulatory transcription factor binding sites in the MRPL47 gene promoter:
         HOXA9   HOXA9B   GR   GR-beta   Evi-1   Meis-1b   FOXJ2 (long isoform)   FOXJ2   GR-alpha   Meis-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidMRPL47 promoter sequence
   Search Chromatin IP Primers for MRPL47

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat MRPL47


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

Entrez Gene cytogenetic band: 3q26.33   Ensembl cytogenetic band:  3q26.33   HGNC cytogenetic band: 3q26.33

MRPL47 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
MRPL47 gene location

GeneLoc information about chromosome 3         GeneLoc Exon Structure

GeneLoc location for GC03M179306:  view genomic region     (about GC identifiers)

Start:
179,306,073 bp from pter      End:
179,322,442 bp from pter
Size:
16,370 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: RM47_HUMAN, Q9HD33 (See protein sequence)
Recommended Name: 39S ribosomal protein L47, mitochondrial precursor  
Size: 250 amino acids; 29450 Da
Sequence caution: Sequence=AAG01157.1; Type=Miscellaneous discrepancy; Note=Chimeric cDNA. Seems to include a
portion of the orthologous murine sequence; Sequence=AAO92749.1; Type=Erroneous initiation;
Secondary accessions: Q6XRG1 Q8N5D1
Alternative splicing: 3 isoforms:  Q9HD33-1   Q9HD33-2   Q9HD33-3   

Explore the universe of human proteins at neXtProt for MRPL47: NX_Q9HD33

Explore proteomics data for MRPL47 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See MRPL47 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_065142.2  NP_817125.1  

    ENSEMBL proteins: 
     ENSP00000417602   ENSP00000259038   ENSP00000376427  

    MRPL47 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

    1 InterPro protein domain:
     IPR010729 Ribosomal_L47_mit

    Graphical View of Domain Structure for InterPro Entry Q9HD33

    ProtoNet protein and cluster: Q9HD33

    1 Blocks protein domain: IPB010729 Mitochondrial 39-S ribosomal L47

    UniProtKB/Swiss-Prot: RM47_HUMAN, Q9HD33
    Similarity: Belongs to the ribosomal protein L47em family


    MRPL47 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:0003735structural constituent of ribosome IEA--
         
    MRPL47 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for MRPL47:
     Decreased viability with pacli 

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for MRPL47
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    miRNA
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    miRTarBase miRNAs that target MRPL47:
    hsa-let-7b-5p (MIRT032272)

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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
    RM47_HUMAN, Q9HD33: Mitochondrion
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    mitochondrion5
    cytosol1
    nucleus1

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005575cellular_component ND--
    GO:0005739mitochondrion IDA--
    GO:0005761mitochondrial ribosome IEA--

    MRPL47 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 MRPL47
    Interactions:

        Search GeneGlobe Interaction Network for MRPL47

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

    Selected Interacting proteins for MRPL47 (Q9HD332, 3 ENSP000004176024) via UniProtKB, MINT, STRING, and/or I2D (see all 255)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ICT1Q141972, 3, ENSP000003015854MINT-8079030 I2D: score=1 STRING: ENSP00000301585
    MRPL15Q9P0152, ENSP000002601024MINT-8079030 STRING: ENSP00000260102
    MRPL41Q8IXM32, ENSP000003604984MINT-8079030 STRING: ENSP00000360498
    MRPL16Q9NX202, ENSP000003001514MINT-8079030 STRING: ENSP00000300151
    MRPL3P090012, ENSP000002649954MINT-8079030 STRING: ENSP00000264995
    About this table

    Gene Ontology (GO): 2 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006412translation IEA--
    GO:0008150biological_process ND--

    MRPL47 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 MRPL47 (RM47)



    (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,
    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 MRPL47 gene (2 alternative transcripts): 
    NM_020409.2  NM_177988.1  

    Unigene Cluster for MRPL47:

    Mitochondrial ribosomal protein L47
    Hs.283734  [show with all ESTs]
    Unigene Representative Sequence: BM455219
    3 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000476781(uc003fjz.3 uc003fka.3 uc003fkb.3) ENST00000259038
    ENST00000392659
    miRNA
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      QuantiFast Probe-based Assays in human, mouse, rat MRPL47

    Additional mRNA sequence: 

    AY212270.1 BC021575.1 BC032522.1 

    9 DOTS entries:

    DT.91997648  DT.91771213  DT.100677949  DT.99977438  DT.100731348  DT.100677962  DT.97854877  DT.121047617 
    DT.97796732 

    Selected AceView cDNA sequences (see all 88):

    BQ127879 BC021575 AI948770 BM757806 BM857807 AI040005 BM851142 NM_177988 
    AA524703 NM_020409 BM711113 AI970080 BE883272 AI079811 AI689819 BM466952 
    AI735318 BE328829 BM670614 BM708315 BM801872 BG254816 CD556190 AI189156 

    GeneLoc Exon Structure

    3 Alternative Splicing Database (ASD) splice patterns (SP) for MRPL47    About this scheme

    ExUns: 1a · 1b · 1c ^ 2a · 2b ^ 3 ^ 4 ^ 5 ^ 6 ^ 7a · 7b · 7c
    SP1:                    -                                                   
    SP2:                                                                        
    SP3:                    -     -                                             


    ECgene alternative splicing isoforms for MRPL47

    (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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    MRPL47 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GCTGCGGCCG
    MRPL47 Expression
    About this image

    MRPL47 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    MRPL47 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.283734
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    (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 MRPL47 gene from Selected species (see all 17)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Mrpl471 , 5 mitochondrial ribosomal protein L471, 5 80.8(n)1
    77.6(a)1
      3 (15.84 cM)5
    746001  NM_029017.21  NP_083293.11 
     327253975 
    chicken
    (Gallus gallus)
    Aves MRPL471 mitochondrial ribosomal protein L47 60.32(n)
    55.87(a)
      424977  XM_422785.4  XP_422785.1 
    lizard
    (Anolis carolinensis)
    Reptilia MRPL476
    mitochondrial ribosomal protein L47
    68(a)
    1 ↔ 1
    3(2102704-2109710)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.55412 Xenopus laevis transcribed sequence with weak similarity more 80.09(n)    BG515682.1 
    zebrafish
    (Danio rerio)
    Actinopterygii idibd10902 idibd1090 70.37(n)   338277  57051055 
    fruit fly
    (Drosophila melanogaster)
    Insecta mRpL471 mitochondrial ribosomal protein L47 45.81(n)
    41.23(a)
      41141  NM_176433.2  NP_788610.1 
    worm
    (Caenorhabditis elegans)
    Secernentea mrpl-476
    Protein MRPL-47, isoform a
    29(a)
    1 ↔ 1
    I(5244283-5245523) WBGene00015092


    ENSEMBL Gene Tree for MRPL47 (if available)
    TreeFam Gene Tree for MRPL47 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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      --

    (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 MRPL47 (see all 287)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 3 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1422730441,2
    C,F--179306748(+) CCTTCC/TGTGCT 4 Q R mis12Minor allele frequency- T:0.00NA EU 5801
    rs105137621,2,,4
    C,F,A,H--179306775(+) TCTCAC/TGTTCC 4 H R mis141Minor allele frequency- T:0.10NS NA EA WA CSA EU 9029
    rs1927758931,2
    --179306864(+) AATCAA/GTTACA 2 -- int10--------
    rs37742591,2
    C--179306929(+) ACTTGA/CATAGT 2 -- int17Minor allele frequency- C:0.14EA NA CSA WA 1662
    rs105767311,2
    C--179307061(+) TCCTC-/ATATGAC 2 -- int10--------
    rs177701871,2
    C,F--179307108(+) ATAGGG/AGAAAT 2 -- int13Minor allele frequency- A:0.01NA 142
    rs1893693811,2
    --179307172(+) ATATCG/TCTCAT 2 -- int10--------
    rs1926972551,2
    --179307288(+) TACAAA/CATAAA 2 -- int10--------
    rs1456502611,2
    --179307350(+) AAATCC/TTTGCA 2 -- int10--------
    rs563573771,2
    C,F--179307380(+) TGATAT/CCTTAC 2 -- int12Minor allele frequency- C:0.05WA 120

    HapMap Linkage Disequilibrium report for MRPL47 (179306073 - 179322442 bp)

    Structural Variations
          Database of Genomic Variants (DGV) variations for MRPL47: --
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing MRPL47
    DNA2.0 Custom Variant and Variant Library Synthesis for MRPL47

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 611852    OMIM disorders: --

    4 diseases for MRPL47:    
    About MalaCards
    nasopharyngitis    leber hereditary optic neuropathy    neuropathy    malaria

    1 disease from the University of Copenhagen DISEASES database for MRPL47:
    Leber hereditary optic neuropathy

    MRPL47 for disorders           About GeneDecksing

    Genetic Association Database (GAD): MRPL47
    Human Genome Epidemiology (HuGE) Navigator: MRPL47 (1 document)

    Export disorders for MRPL47 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 MRPL47 gene, integrated from 10 sources (see all 14):
    (articles sorted by number of sources associating them with MRPL47)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. 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)
    2. 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)
    3. A census of human soluble protein complexes. (PubMed id 22939629)1 Havugimana P.C....Emili A. (Cell 2012)
    4. Initial characterization of the human central proteome. (PubMed id 21269460)2 Burkard T.R.... Colinge J. (BMC Syst. Biol. 2011)
    5. Mass spectrometric analysis of lysine ubiquitylation reveals promiscuity at site level. (PubMed id 21139048)1 Danielsen J.M....Nielsen M.L. (amp 2011)
    6. Systematic analysis of human protein complexes identifies chromosome segregation proteins. (PubMed id 20360068)1 Hutchins J.R.... Peters J.M. (Science 2010)
    7. A functional peptidyl-tRNA hydrolase, ICT1, has been recruited into the human mitochondrial ribosome. (PubMed id 20186120)1 Richter R....Chrzanowska-Lightowlers Z.M. (EMBO J. 2010)
    8. Lysine acetylation targets protein complexes and co-regulates major cellular functions. (PubMed id 19608861)2 Choudhary C.... Mann M. (Science 2009)
    9. The DNA sequence, annotation and analysis of human chromosome 3. (PubMed id 16641997)2 Muzny D.M....Gibbs R.A. (Nature 2006)
    10. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)2 Gerhard D.S.... Malek J. (Genome Res. 2004)

    (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: 57129 HGNC: 16652 AceView: MRPL47 Ensembl:ENSG00000136522 euGenes: HUgn57129
    ECgene: MRPL47 H-InvDB: MRPL47

    (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)
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    NameDescription
    PharmGKB entry for MRPL47 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 MRPL47 gene:
    Search GeneIP for patents involving MRPL47

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



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, and ESI BIO, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
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