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MRPL53 Gene

protein-coding   GIFtS: 42
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)
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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, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000002.12  NC_018913.2  NT_022184.16  
Regulatory elements:
   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 Chromatin IP Primers for MRPL53

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing 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 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, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, 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: RM53_HUMAN, Q96EL3 (See protein sequence)
Recommended Name: 39S ribosomal protein L53, mitochondrial precursor  
Size: 112 amino acids; 12107 Da

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

Explore proteomics data for MRPL53 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See MRPL53 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_444278.1  
    ENSEMBL proteins: 
     ENSP00000258105   ENSP00000386920  

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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:
     IPR019716 Ribosomal_L53_mit

    Graphical View of Domain Structure for InterPro Entry Q96EL3

    ProtoNet protein and cluster: Q96EL3


    Find genes that share domains with MRPL53           About GenesLikeMe


    (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, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for MRPL53
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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
    RM53_HUMAN, Q96EL3: Mitochondrion (By similarity)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    mitochondrion2
    cytosol1
    nucleus1

    Gene Ontology (GO): 2 cellular component terms:    About this table

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

    Find genes that share ontologies with MRPL53           About GenesLikeMe


    (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 MRPL53
    Interactions:

        Search GeneGlobe Interaction Network 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, 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 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,
    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, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    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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      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 

    Selected AceView cDNA sequences (see all 153):

    BG475270 BM903971 BM695872 NM_053050 BU190829 AI928898 AW081076 AW163645 
    AI149851 AK075209 AI420098 AW166509 BF941879 AI564950 AI340186 CK904548 
    AW004617 AA424037 BG482977 BI858166 BM666951 BQ212301 AI493696 BM707017 

    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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    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

    MRPL53 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    MRPL53 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.534527
        Custom PCR Arrays for MRPL53
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    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)
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    This gene was present in the common ancestor of chordates.

    Orthologs for MRPL53 gene from Selected species (see all 8)    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 
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia mrpl531 mitochondrial ribosomal protein L53 51.69(n)
    50.56(a)
      448697  NM_001005117.2  NP_001005117.1 
    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)
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    Paralogs for MRPL53 gene

    Find genes that share paralogs with MRPL53           About GenesLikeMe


    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), 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 MRPL53 (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
    ----------
    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
    rs102046971,2
    C,H--74699103(+) TTCCAG/AAAACA 1 -- ut315Minor allele frequency- A:0.00NS EA NA 414

    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

    Site Specific Mutation Identification with PCR Assays
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    DNA2.0 Custom Variant and Variant Library Synthesis for MRPL53

    (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: 611857    OMIM disorders: --


    Find genes that share disorders with MRPL53           About GenesLikeMe


    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)
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    PubMed articles for MRPL53 gene, integrated from 10 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. (Genome Res. 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. (J. Biol. Chem. 2001)
    3. 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)
    4. A census of human soluble protein complexes. (PubMed id 22939629)1 Havugimana P.C....Emili A. (Cell 2012)
    5. Initial characterization of the human central proteome. (PubMed id 21269460)2 Burkard T.R.... Colinge J. (BMC Syst. Biol. 2011)
    6. Interactions of pathological hallmark proteins: tubulin polymerization promoting protein/p25, beta-amyloid, and alpha-synuclein. (PubMed id 21832049)1 OlA!h J....OvA!di J. (J. Biol. Chem. 2011)
    7. Proteomic profiling of Myc-associated proteins. (PubMed id 21150319)1 Agrawal P....Sedivy J.M. (Cell Cycle 2010)
    8. Defining the human deubiquitinating enzyme interaction landscape. (PubMed id 19615732)1 Sowa M.E....Harper J.W. (Cell 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. (Genomics 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. (Proc. Natl. Acad. Sci. U.S.A. 2002)

    (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: 116540 HGNC: 16684 AceView: FLJ14397andMRPL53 Ensembl:ENSG00000204822 euGenes: HUgn116540
    ECgene: MRPL53 H-InvDB: MRPL53

    (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 MRPL53 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 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, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, eBioscience, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
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    GeneCards Homepage - Last full update: 7 May 2014 - Incrementals: 9 May 2014 , 2 Jun 2014 , 26 Jun 2014 , 30 Jun 2014 , 21 Aug 2014 , 8 Sep 2014

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