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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

MRPL52 Gene

protein-coding   GIFtS: 44
GCID: GC14P023299

Mitochondrial Ribosomal Protein L52

  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)
About This Section

Aliases
Mitochondrial Ribosomal Protein L521 2
L52mt2 3
MRP-L522 3
39S Ribosomal Protein L52, Mitochondrial2

External Ids:    HGNC: 166551   Entrez Gene: 1227042   Ensembl: ENSG000001725907   OMIM: 6118565   UniProtKB: Q86TS93   

Export aliases for MRPL52 gene to outside databases

Previous GC identifers: GC00U991113 GC14P021289 GC14P022368 GC14P003416


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for MRPL52 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 which has no bacterial homolog. Multiple transcript variants encoding different protein
isoforms were identified through sequence analysis. (provided by RefSeq, Jul 2008)

GeneCards Summary for MRPL52 Gene: 
MRPL52 (mitochondrial ribosomal protein L52) is a protein-coding gene. Diseases associated with MRPL52 include gastric cancer. 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000014.8  NT_026437.12  NC_018925.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the MRPL52 gene promoter:
         AP-2alpha isoform 3   ATF-2   AP-2alpha isoform 2   E47   E2F-1   E2F   AP-2alpha isoform 4   c-Jun   AP-2alpha   AP-2alphaA   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidMRPL52 promoter sequence
   Search SABiosciences Chromatin IP Primers for MRPL52

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat MRPL52


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

Entrez Gene cytogenetic band: 14q11.2   Ensembl cytogenetic band:  14q11.2   HGNC cytogenetic band: 14q11.2

MRPL52 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
MRPL52 gene location

GeneLoc information about chromosome 14         GeneLoc Exon Structure

GeneLoc location for GC14P023299:  view genomic region     (about GC identifiers)

Start:
23,299,088 bp from pter      End:
23,304,246 bp from pter
Size:
5,159 bases      Orientation:
plus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: RM52_HUMAN, Q86TS9 (See protein sequence)
Recommended Name: 39S ribosomal protein L52, mitochondrial precursor  
Size: 123 amino acids; 13664 Da
Subunit: Component of the mitochondrial ribosome large subunit (39S) which comprises a 16S rRNA and about 50
distinct proteins (By similarity)
Subcellular location: Mitochondrion (By similarity)
Sequence caution: Sequence=CAD66556.1; Type=Erroneous initiation;
Secondary accessions: A6NMQ8 A8MYI6 G3XCN9 Q6NVH8
Alternative splicing: 3 isoforms:  Q86TS9-1   Q86TS9-2   Q86TS9-3   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for MRPL52: NX_Q86TS9

Explore proteomics data for MRPL52 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q86TS9

  • MRPL52 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    MRPL52 Protein Expression
    REFSEQ proteins (6 alternative transcripts): 
    NP_848026.1  NP_851313.1  NP_851821.1  NP_851822.1  NP_851823.1  NP_851824.1  

    ENSEMBL proteins: 
     ENSP00000347277   ENSP00000380633   ENSP00000451081   ENSP00000406655   ENSP00000451303  
     ENSP00000451832   ENSP00000380642   ENSP00000451436   ENSP00000310762   ENSP00000451481  
     ENSP00000451809  

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    Cloud-Clone Corp. Proteins for MRPL52 

    Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005739mitochondrion ----
    GO:0005762mitochondrial large ribosomal subunit ISS--
    GO:0005840ribosome ----

    MRPL52 for ontologies           About GeneDecksing



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

    ProtoNet protein and cluster: Q86TS9


    (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,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

         Gene Ontology (GO): 1 molecular function term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003735structural constituent of ribosome ISS--
         
    MRPL52 for ontologies           About GeneDecksing


    Animal Models:
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    SwitchGear 3'UTR luciferase reporter plasmidMRPL52 3' UTR sequence
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    (Pathways according to EMD Millipore, 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 SABiosciences, 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 Oct 2013 via Entrez Gene).
    About This Section



    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for MRPL52

    Gene Ontology (GO): 1 biological process term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006412translation ISS--

    MRPL52 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for MRPL52 (RM52)

    Search CenterWatch for drugs/clinical trials and news about MRPL52 / RM52

    (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,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for MRPL52 gene (6 alternative transcripts): 
    NM_178336.2  NM_180982.2  NM_181304.2  NM_181305.2  NM_181306.2  NM_181307.2  

    Unigene Cluster for MRPL52:

    Mitochondrial ribosomal protein L52
    Hs.355935  [show with all ESTs]
    Unigene Representative Sequence: NM_181304
    17 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000557543 ENST00000355151(uc001wgw.4 uc001wgx.4 uc001wgy.4 uc001wgz.4 uc001wha.4 uc001whb.4)
    ENST00000556214 ENST00000553482 ENST00000556654 ENST00000397496 ENST00000555345
    ENST00000432849 ENST00000553711 ENST00000556465 ENST00000397505 ENST00000557221
    ENST00000311892 ENST00000556840 ENST00000461594 ENST00000555536 ENST00000553965

    miRNA
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    8/15 QIAGEN miScript miRNA Assays for microRNAs that regulate MRPL52 (see all 15):
    hsa-miR-34b* hsa-miR-3673 hsa-miR-206 hsa-miR-34c-5p hsa-miR-4271 hsa-miR-449b hsa-miR-2110 hsa-miR-548e
    SwitchGear 3'UTR luciferase reporter plasmidMRPL52 3' UTR sequence
    Inhib. RNA
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    Additional mRNA sequence: 

    AK000450.1 AK292011.1 BC055381.1 BC068070.1 BX248749.1 

    8 DOTS entries:

    DT.91894617  DT.100795062  DT.100035049  DT.95272461  DT.100035041  DT.97861775  DT.204806  DT.100045857 

    24/141 AceView cDNA sequences (see all 141):

    BF718429 AK000450 NM_180981 NM_181305 NM_180982 F36474 NM_178336 BU153792 
    AI382677 AI079317 NM_181304 BF718483 BE774280 BE253105 AW954782 BF057999 
    AA862400 AI749104 AI689385 CR614140 AA143237 AI362876 AI344492 NM_181306 

    GeneLoc Exon Structure

    5/12 Alternative Splicing Database (ASD) splice patterns (SP) for MRPL52 (see all 12)    About this scheme

    ExUns: 1a · 1b · 1c · 1d · 1e ^ 2 ^ 3a · 3b · 3c · 3d ^ 4 ^ 5a · 5b ^ 6a · 6b · 6c
    SP1:                          -                 -     -     -     -           -                     
    SP2:                          -                 -     -     -     -           -                     
    SP3:                          -                 -     -     -     -                                 
    SP4:                                            -     -     -                 -                     
    SP5:                                            -     -     -           -     -                     


    ECgene alternative splicing isoforms for MRPL52

    (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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    MRPL52 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GCAGCTCAGG
    MRPL52 Expression
    About this image


    See MRPL52 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for MRPL52

    SOURCE GeneReport for Unigene cluster: Hs.355935
        SABiosciences Custom PCR Arrays for MRPL52
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    In Situ
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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)
    About This Section

    This gene was present in the common ancestor of animals.

    Orthologs for MRPL52 gene from 4/8 species (see all 8)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Mrpl521 , 5 mitochondrial ribosomal protein L521, 5 86.78(n)1
    85.12(a)1
      14 (27.78 cM)5
    688361  NM_026851.21  NP_081127.11 
     544269095 
    lizard
    (Anolis carolinensis)
    Reptilia MRPL526
    mitochondrial ribosomal protein L52
    43(a)
    1 ↔ 1
    GL343491.1(565933-571400)
    zebrafish
    (Danio rerio)
    Actinopterygii MRPL526
    mitochondrial ribosomal protein L52
    42(a)
    1 ↔ 1
    7(25281977-25284234)
    fruit fly
    (Drosophila melanogaster)
    Insecta mRpL526
    mitochondrial ribosomal protein L52
    32(a)
    1 ↔ 1
    2R(3561226-3561908)


    ENSEMBL Gene Tree for MRPL52 (if available)
    TreeFam Gene Tree for MRPL52 (if available)

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

    (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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/194 SNPs in MRPL52 are shown (see all 194)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 14 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1422783551,2
    --23297120(+) CACCCA/GCCTTG 6 -- us2k10--------
    rs1914670891,2
    --23297231(+) TGCTTA/TCCAAA 6 -- us2k10--------
    rs49826841,2
    C,F,H--23297244(+) GTGAAC/ACCCCA 6 -- us2k111Minor allele frequency- A:0.11NA WA CSA EA 375
    rs1847402041,2
    --23297245(+) TGAAAC/GCCCAA 6 -- us2k10--------
    rs1512364091,2
    --23297258(+) TTTGAA/GACAGG 6 -- us2k10--------
    rs1895621491,2
    --23297554(+) GAATAA/TGCATC 6 -- us2k10--------
    rs1393324381,2
    --23297572(+) GTGAGC/TAGACA 6 -- us2k10--------
    rs10286491,2
    C,F,H--23297667(-) GCCAGG/TTGTGA 6 -- us2k125Minor allele frequency- T:0.34NS EA NA WA CSA 2698
    rs1138016881,2
    F--23297685(+) TAATGG/CGCTCT 6 -- us2k11Minor allele frequency- C:0.50CSA 2
    rs1464964461,2
    --23297716(+) TATAAA/GGCACT 6 -- us2k10--------

    HapMap Linkage Disequilibrium report for MRPL52 (23299088 - 23304246 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 1 variation for MRPL52:    About this table     
    Variant IDTypeSubtypePubMed ID
    nsv901490CNV Loss21882294

    SABiosciences Cancer Mutation PCR Assays
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    (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.)
    About This Section
    OMIM gene information: 611856    OMIM disorders: --

    2 diseases for MRPL52:    About MalaCards
    gastric cancer    


    MRPL52 for disorders           About GeneDecksing

    Genetic Association Database (GAD): MRPL52
    Human Genome Epidemiology (HuGE) Navigator: MRPL52 (1 document)

    Export disorders for MRPL52 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)
    About This Section

    PubMed articles for MRPL52 gene, integrated from 9 sources (see all 15):
    (articles sorted by number of sources associating them with MRPL52)
        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. (2001)
    2. Genetic variants in nuclear-encoded mitochondrial gen es influence AIDS progression. (PubMed id 20877624)1, 4 Hendrickson S.L....O'Brien S.J. (2010)
    3. 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. (2004)
    4. Evolution of a protein-rich mitochondrial ribosome: implications for human genetic disease. (PubMed id 11943462)1, 3 O'Brien T.W. (2002)
    5. Quantitative study of the interactome of PKCz involved in the EGF-induced tumor cell chemotaxis. (PubMed id 23402259)1 Chen R....Zhang N. (2013)
    6. A census of human soluble protein complexes. (PubMed id 22939629)1 Havugimana P.C....Emili A. (2012)
    7. Interactions of pathological hallmark proteins: tubul in polymerization promoting protein/p25, beta-amyloid, and alpha-synuclein. (PubMed id 21832049)1 OlA!h J....OvA!di J. (2011)
    8. Toward a confocal subcellular atlas of the human proteome. (PubMed id 18029348)1 Barbe L....Andersson-Svahn H. (2008)
    9. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. (PubMed id 16344560)1 Kimura K.... Sugano S. (2006)
    10. Transcriptome analysis of human gastric cancer. (PubMed id 16341674)1 Oh J.H....Kim N.S. (2005)

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

      Query String
    PubMed
    OMIM
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 122704 HGNC: 16655 AceView: MRPL52 Ensembl:ENSG00000172590 euGenes: HUgn122704
    ECgene: MRPL52 H-InvDB: MRPL52

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for MRPL52 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for MRPL52 gene:
    Search GeneIP for patents involving MRPL52

    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, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Sirion Biotech, Cell lines from GenScript, and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences, In Situ Hybridization Assays from
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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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