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

MRPL53 Gene

protein-coding   GIFtS: 41
GCID: GC02M074701

Mitochondrial Ribosomal Protein L53

  Search for MRPL53
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 L531 2
39S Ribosomal Protein L53, Mitochondrial2
L53MT2
L53mt3
MRP-L533

External Ids:    HGNC: 166841   Entrez Gene: 1165402   Ensembl: ENSG000002048227   OMIM: 6118575   UniProtKB: Q96EL33   

Export aliases for MRPL53 gene to outside databases

Previous GC identifers: GC02M074836 GC02M074911 GC02M074657 GC02M074673 GC02M074611 GC02M074552 GC02M074435


(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 MRPL53 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. A pseudogene corresponding to this gene is found on chromosome 1p. (provided by RefSeq, Jul
2008)

GeneCards Summary for MRPL53 Gene: 
MRPL53 (mitochondrial ribosomal protein L53) is a protein-coding gene.




(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_000002.11  NC_018913.2  NT_022184.15  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the MRPL53 gene promoter:
         ER-alpha   Elk-1   NF-1   NF-1/L   GCNF   Olf-1   MyoD   GCNF-1   Meis-1a   GCNF-2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidMRPL53 promoter sequence
   Search SABiosciences Chromatin IP Primers for MRPL53

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat MRPL53


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

Entrez Gene cytogenetic band: 2p13.1   Ensembl cytogenetic band:  2p13.1   HGNC cytogenetic band: 2p13.1

MRPL53 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
MRPL53 gene location

GeneLoc information about chromosome 2         GeneLoc Exon Structure

GeneLoc location for GC02M074701:  view genomic region     (about GC identifiers)

Start:
74,699,085 bp from pter      End:
74,700,449 bp from pter
Size:
1,365 bases      Orientation:
minus 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: RM53_HUMAN, Q96EL3 (See protein sequence)
Recommended Name: 39S ribosomal protein L53, mitochondrial precursor  
Size: 112 amino acids; 12107 Da
Subcellular location: Mitochondrion (By similarity)

Explore the universe of human proteins at neXtProt for MRPL53: NX_Q96EL3

Explore proteomics data for MRPL53 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q96EL3

  • MRPL53 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    MRPL53 Protein Expression
    REFSEQ proteins: NP_444278.1  
    ENSEMBL proteins: 
     ENSP00000258105   ENSP00000386920  

    Human Recombinant Protein Products for MRPL53: 
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    Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005739mitochondrion IEA--
    GO:0005840ribosome IEA--

    MRPL53 for ontologies           About GeneDecksing



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    Cloud-Clone Corp. CLIAs for MRPL53


    (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

    1 InterPro protein domain:
     IPR019716 Ribosomal_L53_mit

    Graphical View of Domain Structure for InterPro Entry Q96EL3

    ProtoNet protein and cluster: Q96EL3


    MRPL53 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,
    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

    Animal Models:
       inGenious Targeting Laboratory - Custom generated mouse model solutions for MRPL53 
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for MRPL53 
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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 MRPL53

    STRING Interaction Network Preview (showing 4 interactants - click image to see more details)

    4 Interacting proteins for MRPL53 (Q96EL33 ENSP000002581054) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    BABAM1Q9NWV83, ENSP000003524084I2D: score=2 STRING: ENSP00000352408
    MYCP011063, ENSP000003672074I2D: score=1 STRING: ENSP00000367207
    USP44Q9H0E73, ENSP000002584994I2D: score=2 STRING: ENSP00000258499
    YBX1ENSP000003616264STRING: ENSP00000361626
    About this table

    (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 MRPL53 (RM53)

    Search CenterWatch for drugs/clinical trials and news about MRPL53 / RM53

    (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 MRPL53 gene: 
    NM_053050.4  

    Unigene Cluster for MRPL53:

    Mitochondrial ribosomal protein L53
    Hs.534527  [show with all ESTs]
    Unigene Representative Sequence: BM467462
    4 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000258105(uc002sln.3) ENST00000409710 ENST00000467349 ENST00000468875

    miRNA
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    Inhib. RNA
    Products:
         
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene RNAi products in human, mouse, rat for MRPL53
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat MRPL53
    Clone
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    OriGene clones in human, mouse for MRPL53 (see all 7)
    OriGene ORF clones in mouse, rat for MRPL53
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    GenScript: all cDNA clones in your preferred vector: MRPL53 (NM_053050)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for MRPL53
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat MRPL53
    Sirion Biotech Customized lentivirus for stable overexpression of MRPL53 
                         Customized lentivirus expression plasmids for stable overexpression of MRPL53 
    Primer
    Products:
        
    OriGene qPCR primer pairs and template standards for MRPL53
    OriGene qSTAR qPCR primer pairs in human, mouse for MRPL53
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat MRPL53
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat MRPL53

    Additional mRNA sequence: BC012163.1 

    7 DOTS entries:

    DT.97778002  DT.315678  DT.95166006  DT.120931179  DT.97806978  DT.97842868  DT.97842869 

    24/153 AceView cDNA sequences (see all 153):

    AW166509 BU190829 AW081076 BI858166 BG482977 BU075817 BM666951 BQ014848 
    BM695872 BM707017 AW163645 BG475270 AI493696 CK904548 NM_053050 BM903971 
    AI928898 AI420098 AW157651 AI149851 BQ016433 AA424037 AI268599 AI564950 

    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™, 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

    MRPL53 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: ACGGCTCCGA
    MRPL53 Expression
    About this image


    See MRPL53 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for MRPL53

    SOURCE GeneReport for Unigene cluster: Hs.534527
        SABiosciences Custom PCR Arrays for MRPL53
    Primer
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    OriGene qPCR primer pairs and template standards for MRPL53
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    QIAGEN QuantiFast Probe-based Assays in human, mouse, rat MRPL53
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MRPL53

    (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 chordates.

    Orthologs for MRPL53 gene from 3/7 species (see all 7)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Mrpl531 , 5 mitochondrial ribosomal protein L531, 5 82.41(n)1
    87.96(a)1
      6 (35.94 cM)5
    684991  NM_026744.31  NP_081020.11 
     831090955 
    chicken
    (Gallus gallus)
    Aves MRPL531 mitochondrial ribosomal protein L53 56.94(n)
    60.42(a)
      420196  NM_001199473.1  NP_001186402.1 
    zebrafish
    (Danio rerio)
    Actinopterygii zgc:1037611 zgc:103761 54.81(n)
    52.88(a)
      447915  NM_001004653.1  NP_001004653.1 


    ENSEMBL Gene Tree for MRPL53 (if available)
    TreeFam Gene Tree for MRPL53 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for MRPL53 gene

    MRPL53 for paralogs           About GeneDecksing


    1 Pseudogenes.org Pseudogene for MRPL53
    PGOHUM00000244146


    (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

    10/22 SNPs in MRPL53 are shown (see all 22)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 2 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0294754
    ----see VAR_0294752 A S mis40--------
    rs758142341,2
    C,F--74698588(+) TGACTC/TGGCCT 1 -- ds50012Minor allele frequency- T:0.04WA 120
    rs126216181,2
    C,F,H--74698674(+) AGTAAG/AAGggc 1 -- ds50018Minor allele frequency- A:0.01NS NA 1244
    rs126150701,2
    H--74698685(+) tgggcA/Ccagta 1 -- ds50010--------
    rs1177305681,2
    F--74698843(+) AGTCCC/TAACTT 1 -- ds50011Minor allele frequency- T:0.01EA 120
    rs1431960021,2
    --74698876(+) CTAAGC/TCCAGG 1 -- ds50010--------
    rs1864003881,2
    --74698899(+) AGAATC/GATGCC 1 -- ds50010--------
    rs709657981,2
    C--74698959(+) AAAAA-/A/    
       AAAAA
    AAAAA
    1 -- ds50011NA 2
    rs1470957371,2
    --74699007(+) AGCCAA/GAAGCC 1 -- ds50010--------
    rs1128962801,2
    C,F--74699066(+) TTCAGG/CTTCAT 1 -- ds50012Minor allele frequency- C:0.04CSA WA 120

    HapMap Linkage Disequilibrium report for MRPL53 (74699085 - 74700449 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 4 variations for MRPL53:    About this table     
    Variant IDTypeSubtypePubMed ID
    nsv458185CNV Loss19166990
    nsv515851CNV Loss19592680
    dgv4166n71CNV Loss21882294
    dgv1199e1CNV Complex17122850

    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

    MRPL53 for disorders           About MalaCards
    OMIM gene information: 611857    OMIM disorders: --


    MRPL53 for disorders           About GeneDecksing


    Export disorders for MRPL53 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 MRPL53 gene, integrated from 9 sources (see all 12):
    (articles sorted by number of sources associating them with MRPL53)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. 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)
    2. The large subunit of the mammalian mitochondrial ribosome. Analysis of the complement of ribosomal proteins present. (PubMed id 11551941)1, 3 Koc E.C....Spremulli L.L. (2001)
    3. Quantitative study of the interactome of PKCz involved in the EGF-induced tumor cell chemotaxis. (PubMed id 23402259)1 Chen R....Zhang N. (2013)
    4. A census of human soluble protein complexes. (PubMed id 22939629)1 Havugimana P.C....Emili A. (2012)
    5. Initial characterization of the human central proteome. (PubMed id 21269460)2 Burkard T.R.... Colinge J. (2011)
    6. 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)
    7. Proteomic profiling of Myc-associated proteins. (PubMed id 21150319)1 Agrawal P....Sedivy J.M. (2010)
    8. Defining the human deubiquitinating enzyme interactio n landscape. (PubMed id 19615732)1 Sowa M.E....Harper J.W. (2009)
    9. Identification and characterization of over 100 mitochondrial ribosomal protein pseudogenes in the human genome. (PubMed id 12706105)1 Zhang Z. and Gerstein M. (2003)
    10. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1 Strausberg R.L....Marra M.A. (2002)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     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)
    About This Section
    Entrez Gene: 116540 HGNC: 16684 AceView: FLJ14397andMRPL53 Ensembl:ENSG00000204822 euGenes: HUgn116540
    ECgene: MRPL53 H-InvDB: MRPL53

    (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 MRPL53 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 MRPL53 gene:
    Search GeneIP for patents involving MRPL53

    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
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
    About This Section

     
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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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    (GIFtS: 73)
    transforming growth factor, beta 1
    GIFtS Group
    The GeneCards human gene database gene index: 1 3 5 6 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z 


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