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

MRPL27 Gene

protein-coding   GIFtS: 53
GCID: GC17M048445

Mitochondrial Ribosomal Protein L27

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 L271 2
L27mt2 3
MRP-L272 3
39S Ribosomal Protein L27, Mitochondrial2

External Ids:    HGNC: 144831   Entrez Gene: 512642   Ensembl: ENSG000001088267   OMIM: 6118375   UniProtKB: Q9P0M93   

Export aliases for MRPL27 gene to outside databases

Previous GC identifers: GC17M048158 GC17M050926 GC17M048787 GC17M048919 GC17M045800 GC17M043813


(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 MRPL27 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 MRPL27 Gene: 
MRPL27 (mitochondrial ribosomal protein L27) is a protein-coding gene. Diseases associated with MRPL27 include pneumonia, and tuberculosis, and among its related super-pathways are Viral mRNA Translation. 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_000017.10  NC_018928.2  NT_010783.15  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the MRPL27 gene promoter:
         HFH-3   MAZR   Tal-1beta   LCR-F1   Evi-1   YY1   HNF-4alpha1   E47   FOXI1   N-Myc   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidMRPL27 promoter sequence
   Search SABiosciences Chromatin IP Primers for MRPL27

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat MRPL27


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

Entrez Gene cytogenetic band: 17q21.3-q22   Ensembl cytogenetic band:  17q21.33   HGNC cytogenetic band: 17q21.3-q22

MRPL27 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
MRPL27 gene location

GeneLoc information about chromosome 17         GeneLoc Exon Structure

GeneLoc location for GC17M048445:  view genomic region     (about GC identifiers)

Start:
48,445,218 bp from pter      End:
48,450,575 bp from pter
Size:
5,358 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: RM27_HUMAN, Q9P0M9 (See protein sequence)
Recommended Name: 39S ribosomal protein L27, mitochondrial  
Size: 148 amino acids; 16073 Da
Subcellular location: Mitochondrion
Secondary accessions: B2RE14

Explore the universe of human proteins at neXtProt for MRPL27: NX_Q9P0M9

Explore proteomics data for MRPL27 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q9P0M9

  • MRPL27 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    MRPL27 Protein Expression
    REFSEQ proteins: NP_057588.1  
    ENSEMBL proteins: 
     ENSP00000421865   ENSP00000424321   ENSP00000225969   ENSP00000425126   ENSP00000388915  
     ENSP00000426037  

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    Cloud-Clone Corp. Proteins for MRPL27 

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005622intracellular ----
    GO:0005739mitochondrion ----
    GO:0005762mitochondrial large ribosomal subunit NAS11279069
    GO:0005840ribosome ----

    MRPL27 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

    1 InterPro protein domain:
     IPR001684 Ribosomal_L27

    Graphical View of Domain Structure for InterPro Entry Q9P0M9

    ProtoNet protein and cluster: Q9P0M9

    1 Blocks protein domain: IPB001684 Ribosomal protein L27

    UniProtKB/Swiss-Prot: RM27_HUMAN, Q9P0M9
    Similarity: Belongs to the ribosomal protein L27P family


    MRPL27 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): 1 molecular function term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003735structural constituent of ribosome NAS11279069
         
    MRPL27 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for MRPL27:
     Increased gamma-H2AX phosphory 

    Animal Models:
       inGenious Targeting Laboratory - Custom generated mouse model solutions for MRPL27 
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    SwitchGear 3'UTR luciferase reporter plasmidMRPL27 3' UTR sequence
    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 MRPL27 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 MRPL27):
        Ribosome


    MRPL27 for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for MRPL27

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

    5/256 Interacting proteins for MRPL27 (Q9P0M92, 3 ENSP000002259694) via UniProtKB, MINT, STRING, and/or I2D (see all 256)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ICT1Q141972, 3, ENSP000003015854MINT-8079030 I2D: score=1 STRING: ENSP00000301585
    MRPL16Q9NX202, ENSP000003001514MINT-8079030 STRING: ENSP00000300151
    MRPL20Q9BYC92, ENSP000003410824MINT-8079030 STRING: ENSP00000341082
    MRPL3P090012, ENSP000002649954MINT-8079030 STRING: ENSP00000264995
    MRPL12P528152, ENSP000003338374MINT-8079030 STRING: ENSP00000333837
    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

    MRPL27 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 MRPL27 (RM27)

    Search CenterWatch for drugs/clinical trials and news about MRPL27 / RM27

    (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 MRPL27 gene (3 alternative transcripts): 
    NM_016504.2  NM_148570.1  NM_148571.1  

    Unigene Cluster for MRPL27:

    Mitochondrial ribosomal protein L27
    Hs.7736  [show with all ESTs]
    Unigene Representative Sequence: AK023576
    7 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000507088 ENST00000508200 ENST00000225969(uc002iqq.3) ENST00000503633
    ENST00000442592(uc002iqr.2) ENST00000511860 ENST00000514928
    Congresses - knowledge worth sharing:  
    European Congress of Clinical Microbiology and Infectious Diseases (ECCMID) 10 - 13 May 2014

    miRNA
    Products:
         
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat MRPL27
    2 QIAGEN miScript miRNA Assays for microRNAs that regulate MRPL27:
    hsa-miR-186* hsa-miR-150
    SwitchGear 3'UTR luciferase reporter plasmidMRPL27 3' UTR sequence
    Inhib. RNA
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    Additional mRNA sequence: 

    AB049647.1 AF151084.1 AK023576.1 AK315758.1 BC001066.2 BC021986.1 

    14 DOTS entries:

    DT.417581  DT.97858223  DT.97859398  DT.101983089  DT.97835280  DT.100036991  DT.91767425  DT.120945876 
    DT.95259461  DT.120945939  DT.100817886  DT.417582  DT.92007618  DT.120945864 

    24/287 AceView cDNA sequences (see all 287):

    AA641289 BF431740 AA150928 BU950257 NM_148570 AI494503 BF111409 AI022762 
    BU173316 AA716232 BF515934 BQ325000 BM804786 AA962262 AK023576 BU163243 
    AI148793 AI636840 AI188724 BM915675 AA543048 AJ713669 BG829493 CR617457 

    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

    MRPL27 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CTATTTAGGG
    MRPL27 Expression
    About this image


    See MRPL27 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for MRPL27

    SOURCE GeneReport for Unigene cluster: Hs.7736
        SABiosciences Custom PCR Arrays for MRPL27
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    In Situ
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MRPL27

    (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 MRPL27 gene from 7/16 species (see all 16)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Mrpl271 , 5 mitochondrial ribosomal protein L271, 5 83.56(n)1
    83.11(a)1
      11 (58.90 cM)5
    940641  NM_053161.21  NP_444391.11 
     946537675 
    chicken
    (Gallus gallus)
    Aves MRPL271 mitochondrial ribosomal protein L27 62.37(n)
    69.7(a)
      422105  XM_001232139.2  XP_001232140.1 
    lizard
    (Anolis carolinensis)
    Reptilia MRPL276
    Uncharacterized protein
    63(a)
    1 ↔ 1
    2(116212507-116216748)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.81742 Xenopus laevis transcribed sequence with weak similarity more 73.35(n)    48017016 
    zebrafish
    (Danio rerio)
    Actinopterygii BM534259.12   -- 77.71(n)    BM534259.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta mRpL271 mitochondrial ribosomal protein L27 46.15(n)
    40.17(a)
      318825  NM_175957.2  NP_787971.1 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes MRP7(YNL005C)4 Mitochondrial ribosomal protein of the large subunit   --   14(622428-621313) 855727  NP_014393.1 


    ENSEMBL Gene Tree for MRPL27 (if available)
    TreeFam Gene Tree for MRPL27 (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

    10/121 SNPs in MRPL27 are shown (see all 121)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 17 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1143079871,2
    C,F--48444890(+) TCCTGT/CGGCCA 1 -- ds50011Minor allele frequency- C:0.02WA 118
    rs169489371,2
    C,F,H--48444939(+) TACAGG/AAGAAC 1 -- ds500119Minor allele frequency- A:0.14NA NS EA CSA WA 2478
    rs1920222371,2
    C--48445024(+) CTAAGA/CGGAGA 1 -- ds50010--------
    rs1434367691,2
    C--48445111(+) AAAGT-/CCCCCC 1 -- ds50010--------
    rs177145901,2
    C,F,H--48445192(+) GGGTAA/GGGACC 1 -- ds500123Minor allele frequency- G:0.04NA NS EA WA 2532
    rs1849682281,2
    C--48445215(+) GGCAGG/TTCCAT 1 -- ds50010--------
    rs1127372731,2
    C,F--48445245(+) GCATGC/TGTTCA 1 -- ut312Minor allele frequency- T:0.50CSA 4
    rs1165285881,2
    C,F--48445282(+) CCCAGG/ATCAGG 1 -- ut311Minor allele frequency- A:0.04WA 118
    rs1882309431,2
    --48445359(+) TCCTCA/GGGAGG 1 -- ut310--------
    rs1925623091,2
    --48445371(+) CGTGTC/TGCCAC 1 -- ut310--------

    HapMap Linkage Disequilibrium report for MRPL27 (48445218 - 48450575 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 3 variations for MRPL27:    About this table     
    Variant IDTypeSubtypePubMed ID
    nsv833476CNV Loss17160897
    nsv519530CNV Loss19592680
    nsv833475CNV Loss17160897

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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: 611837    OMIM disorders: --

    3 diseases for MRPL27:    About MalaCards
    pneumonia    tuberculosis    gastric cancer


    MRPL27 for disorders           About GeneDecksing

    Genetic Association Database (GAD): MRPL27
    Human Genome Epidemiology (HuGE) Navigator: MRPL27 (1 document)

    Export disorders for MRPL27 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 MRPL27 gene, integrated from 9 sources (see all 16):
    (articles sorted by number of sources associating them with MRPL27)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Genetic variants in nuclear-encoded mitochondrial gen es influence AIDS progression. (PubMed id 20877624)1, 4 Hendrickson S.L....O'Brien S.J. (2010)
    2. 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)
    3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    4. Structural compensation for the deficit of rRNA with proteins in the mammalian mitochondrial ribosome. Systematic analysis of protein components of the large ribosomal subunit from mammalian mitochondria. (PubMed id 11279069)1, 2 Suzuki T....Watanabe K. (2001)
    5. Cloning and functional analysis of cDNAs with open reading frames for 300 previously undefined genes expressed in CD34+ hematopoietic stem/progenitor cells. (PubMed id 11042152)1, 2 Zhang Q.-H.... Chen Z. (2000)
    6. Initial characterization of the human central proteome. (PubMed id 21269460)2 Burkard T.R.... Colinge J. (2011)
    7. A proteome-wide, quantitative survey of in vivo ubiqui tylation sites reveals widespread regulatory roles. (PubMed id 21890473)1 Wagner S.A....Choudhary C. (2011)
    8. 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)
    9. Mass spectrometric analysis of lysine ubiquitylation r eveals promiscuity at site level. (PubMed id 21139048)1 Danielsen J.M....Nielsen M.L. (2011)
    10. A functional peptidyl-tRNA hydrolase, ICT1, has been recruited into the human mitochondrial ribosome. (PubMed id 20186120)1 Richter R....Chrzanowska-Lightowlers Z.M. (2010)

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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 51264 HGNC: 14483 AceView: MRPL27 Ensembl:ENSG00000108826 euGenes: HUgn51264
    ECgene: MRPL27 Kegg: 51264 H-InvDB: MRPL27

    (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 MRPL27 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for MRPL27 Genetics and Cytogenetics in Oncology and Haematology

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for MRPL27 gene:
    Search GeneIP for patents involving MRPL27

    GeneCards and IP:
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