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

MRPL13 Gene

protein-coding   GIFtS: 56
GCID: GC08M121477

Mitochondrial Ribosomal Protein L13

Microbiology & Infectious Diseases Congress
  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)
About This Section

Aliases
Mitochondrial Ribosomal Protein L131 2     L132
L13mt2 3     L13A2
MRP-L132 3     RPL132
39S Ribosomal Protein L13, Mitochondrial2     RPML132

External Ids:    HGNC: 142781   Entrez Gene: 289982   Ensembl: ENSG000001721727   OMIM: 6102005   UniProtKB: Q9BYD13   

Export aliases for MRPL13 gene to outside databases

Previous GC identifers: GC08M120377 GC08M121466 GC08M121076 GC08M121364 GC08M116728


(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 MRPL13 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 MRPL13 Gene: 
MRPL13 (mitochondrial ribosomal protein L13) is a protein-coding gene. Diseases associated with MRPL13 include ulcerative proctitis, and epidural abscess, and among its related super-pathways are Viral mRNA Translation. GO annotations related to this gene include protein binding and 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_000008.10  NC_018919.2  NT_008046.16  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the MRPL13 gene promoter:
         Spz1   p53   Nkx2-5   FOXL1   NF-AT   NF-AT4   NF-AT2   STAT3   NF-AT3   NF-AT1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidMRPL13 promoter sequence
   Search SABiosciences Chromatin IP Primers for MRPL13

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat MRPL13


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

Entrez Gene cytogenetic band: 8q22.1-q22.3   Ensembl cytogenetic band:  8q24.12   HGNC cytogenetic band: 8q22.1-q22.3

MRPL13 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
MRPL13 gene location

GeneLoc information about chromosome 8         GeneLoc Exon Structure

GeneLoc location for GC08M121477:  view genomic region     (about GC identifiers)

Start:
121,393,000 bp from pter      End:
121,457,647 bp from pter
Size:
64,648 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: RM13_HUMAN, Q9BYD1 (See protein sequence)
Recommended Name: 39S ribosomal protein L13, mitochondrial  
Size: 178 amino acids; 20692 Da
Subunit: Interacts with OXA1L (By similarity)
Subcellular location: Mitochondrion
Sequence caution: Sequence=AAF17202.1; Type=Frameshift; Positions=160;
Secondary accessions: B2R4R8 Q9UI04

Explore the universe of human proteins at neXtProt for MRPL13: NX_Q9BYD1

Explore proteomics data for MRPL13 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q9BYD1

  • MRPL13 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    MRPL13 Protein Expression
    REFSEQ proteins: NP_054797.2  
    ENSEMBL proteins: 
     ENSP00000428229   ENSP00000428867   ENSP00000306548   ENSP00000430545  

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    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for MRPL13 

    Gene Ontology (GO): 4 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005739mitochondrion ----
    GO:0005761mitochondrial ribosome IDA--
    GO:0005762mitochondrial large ribosomal subunit NAS11279069
    GO:0005840ribosome ----

    MRPL13 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

    4 InterPro protein domains:
     IPR023563 Ribosomal_L13_CS
     IPR005823 Ribosomal_L13_bac-type
     IPR005822 Ribosomal_L13
     IPR023564 Ribosomal_L13_dom

    Graphical View of Domain Structure for InterPro Entry Q9BYD1

    ProtoNet protein and cluster: Q9BYD1

    1 Blocks protein domain: IPB005822 Ribosomal protein L13

    UniProtKB/Swiss-Prot: RM13_HUMAN, Q9BYD1
    Similarity: Belongs to the ribosomal protein L13P family


    MRPL13 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

         Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003735structural constituent of ribosome NAS11279069
    GO:0005515protein binding IPI--
         
    MRPL13 for ontologies           About GeneDecksing


    Phenotypes:
         2 GenomeRNAi human phenotypes for MRPL13:
     Decreased viability of wild-ty  Increased cell number in G2M,  

    Animal Models:
       inGenious Targeting Laboratory - Custom generated mouse model solutions for MRPL13 
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    1 QIAGEN miScript miRNA Assays for microRNA that regulate MRPL13:
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    Inhib. RNA
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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

    SuperPaths for MRPL13 About                                                                                                See pathways by source

    SuperPathContained pathways About
    1Viral mRNA Translation
    Ribosome0.59

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways



    1         Kegg Pathway  (Kegg details for MRPL13):
        Ribosome


    MRPL13 for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for MRPL13

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

    5/279 Interacting proteins for MRPL13 (Q9BYD12, 3 ENSP000003065484) via UniProtKB, MINT, STRING, and/or I2D (see all 279)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    MRPL3P090012, 3, ENSP000002649954MINT-8079030 I2D: score=1 STRING: ENSP00000264995
    ICT1Q141972, 3, ENSP000003015854MINT-8079030 I2D: score=1 STRING: ENSP00000301585
    MRPL20Q9BYC92, ENSP000003410824MINT-8079030 STRING: ENSP00000341082
    MRPL12P528152, ENSP000003338374MINT-8079030 STRING: ENSP00000333837
    OXA1LQ150703, ENSP000002858484I2D: score=1 STRING: ENSP00000285848
    About this table

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006412translation NAS11279069

    MRPL13 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 MRPL13 (RM13)

    Search CenterWatch for drugs/clinical trials and news about MRPL13 / RM13

    (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 MRPL13 gene: 
    NM_014078.5  

    Unigene Cluster for MRPL13:

    Mitochondrial ribosomal protein L13
    Hs.333823  [show with all ESTs]
    Unigene Representative Sequence: AK123239
    7 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000521648 ENST00000518696(uc010mdf.3) ENST00000522717 ENST00000306185(uc003ypa.3)
    ENST00000523316 ENST00000518918 ENST00000520677
    Congresses - knowledge worth sharing:  
    European Congress of Clinical Microbiology and Infectious Diseases (ECCMID) 10 - 13 May 2014

    miRNA
    Products:
         
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    1 QIAGEN miScript miRNA Assays for microRNA that regulate MRPL13:
    hsa-miR-3163
    SwitchGear 3'UTR luciferase reporter plasmidMRPL13 3' UTR sequence
    Inhib. RNA
    Products:
         
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      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat MRPL13

    Additional mRNA sequence: 

    AB049640.1 AF112214.1 AK123239.1 AK307322.1 AK311924.1 BC009190.2 BC021744.2 

    17 DOTS entries:

    DT.453475  DT.100792938  DT.121480769  DT.121480683  DT.100792944  DT.100792933  DT.91674190  DT.100676479 
    DT.121480611  DT.86846927  DT.91756319  DT.102828645  DT.91756316  DT.95164137  DT.99966358  DT.40112214 
    DT.95164139 

    24/323 AceView cDNA sequences (see all 323):

    AK123239 BE891143 AA430750 AA461447 BG182029 BE900419 BM310866 AV716148 
    BI771372 CB134198 AA433943 BQ049183 BQ478287 CA441069 BU685630 AV706885 
    CA429224 BM695769 AA706862 AA291501 BP429421 BM789873 AA917918 BI713140 

    GeneLoc Exon Structure

    2 Alternative Splicing Database (ASD) splice patterns (SP) for MRPL13    About this scheme

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


    ECgene alternative splicing isoforms for MRPL13

    (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

    MRPL13 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CTGCCAAAAA
    MRPL13 Expression
    About this image


    See MRPL13 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for MRPL13

    SOURCE GeneReport for Unigene cluster: Hs.333823
        SABiosciences Custom PCR Arrays for MRPL13
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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 and fungi.

    Orthologs for MRPL13 gene from 8/22 species (see all 22)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Mrpl131 , 5 mitochondrial ribosomal protein L131, 5 87.08(n)1
    89.33(a)1
      15 (22.02 cM)5
    685371  NM_026759.31  NP_081035.11 
     555340945 
    chicken
    (Gallus gallus)
    Aves MRPL131 mitochondrial ribosomal protein L13 74.16(n)
    77.53(a)
      420356  XM_418462.3  XP_418462.3 
    lizard
    (Anolis carolinensis)
    Reptilia MRPL136
    Uncharacterized protein
    67(a)
    1 ↔ 1
    GL343269.1(1398100-1428053)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.331712 Xenopus laevis transcribed sequence with moderate similarity more 74.11(n)    BM929033.1 
    zebrafish
    (Danio rerio)
    Actinopterygii mrpl131 mitochondrial ribosomal protein L13 70.22(n)
    77.53(a)
      553555  NM_001020534.1  NP_001018370.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta mRpL131 , 3 protein biosynthesis structural
    constituent of more3
    mitochondrial ribosomal protein L131
    47(a)3
    51.14(n)1
    47.16(a)1
      37B13
    351451  NM_078874.31  NP_523598.21 
    worm
    (Caenorhabditis elegans)
    Secernentea mrpl-131 Protein MRPL-13 52.78(n)
    39.88(a)
      172479  NM_059666.4  NP_492067.1 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes MRPL23(YOR150W)4
    MRPL231
    Mitochondrial ribosomal protein of the large subunit4
    Mrpl23p1
    46.95(n)1
    39.44(a)1
      15(611999-612490)4
    8543211, 4  NP_014793.11, 4 


    ENSEMBL Gene Tree for MRPL13 (if available)
    TreeFam Gene Tree for MRPL13 (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

    10/805 SNPs in MRPL13 are shown (see all 805)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 8 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1496883411,2
    --121407771(+) TCTAAC/TGAGCA 1 -- ds50010--------
    rs125440601,2
    C,F,A,H--121407824(+) CTATAT/AGGGAC 1 -- ds500113Minor allele frequency- A:0.45NS EA NA CSA WA 774
    rs1454942111,2
    --121408135(+) ATCAGA/GTTACA 1 -- ut310--------
    rs1403006661,2
    --121408174(+) AATTAC/TAATTT 1 -- ut310--------
    rs1178185751,2
    C,F--121408187(+) TATTGA/GAGGAC 1 -- ut311Minor allele frequency- G:0.02NA 120
    rs66501,2
    C,F,A,H--121408195(+) GACTAC/TACCTT 1 -- ut3125Minor allele frequency- N:0.00EA NA NS CSA WA 2554
    rs2008301891,2
    --121408371(+) GAAAG-/AAAAAA 1 -- int10--------
    rs2016736191,2
    C--121408395(+) TTCATG/TAATCA 1 -- int11Minor allele frequency- T:0.00EU 1025
    rs3730712281,2
    C--121408427(+) GATGAA/GATTAT 1 -- int10--------
    rs1807218931,2
    C--121408439(+) TTTTCC/GAATTT 1 -- int10--------

    HapMap Linkage Disequilibrium report for MRPL13 (121393000 - 121457647 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 3 variations for MRPL13:    About this table     
    Variant IDTypeSubtypePubMed ID
    esv996748CNV Deletion20482838
    nsv470235CNV Loss18288195
    dgv7872n71CNV Gain21882294

    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers for resequencing MRPL13
    DNA2.0 Custom Variant and Variant Library Synthesis for MRPL13

    (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: 610200    OMIM disorders: --

    7 diseases for MRPL13:    About MalaCards
    ulcerative proctitis    epidural abscess    spondylolysis    lymphogranuloma venereum
    proctitis    pneumonia    tuberculosis


    MRPL13 for disorders           About GeneDecksing

    Genetic Association Database (GAD): MRPL13
    Human Genome Epidemiology (HuGE) Navigator: MRPL13 (1 document)

    Export disorders for MRPL13 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 MRPL13 gene, integrated from 9 sources (see all 25):
    (articles sorted by number of sources associating them with MRPL13)
        Utopia: connect your pdf to the dynamic
    world of online information

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    4. The human mitochondrial ribosomal protein genes: mapping of 54 genes to the chromosomes and implications for human disorders. (PubMed id 11543634)1, 3 Kenmochi N....Tanaka T. (2001)
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 28998 HGNC: 14278 AceView: MRPL13 Ensembl:ENSG00000172172 euGenes: HUgn28998
    ECgene: MRPL13 Kegg: 28998 H-InvDB: MRPL13

    (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 MRPL13 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 MRPL13 gene:
    Search GeneIP for patents involving MRPL13

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



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