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

MRPL14 Gene

protein-coding   GIFtS: 53
GCID: GC06M044128

Mitochondrial Ribosomal Protein L14

  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 L141 2     MRP-L142 3
MRPL322 3 5     MRP-L322 3
39S Ribosomal Protein L32, Mitochondrial2 3     RPML322 3
L14mt2 3     39S Ribosomal Protein L14, Mitochondrial2
L32mt2 3     RMPL322

External Ids:    HGNC: 142791   Entrez Gene: 649282   Ensembl: ENSG000001809927   OMIM: 6118275   UniProtKB: Q6P1L83   

Export aliases for MRPL14 gene to outside databases

Previous GC identifers: GC06M044083 GC06M044189 GC06M043803


(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 MRPL14 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 at 17p13.3. (provided by RefSeq, Jul 2008)

GeneCards Summary for MRPL14 Gene: 
MRPL14 (mitochondrial ribosomal protein L14) is a protein-coding gene. Diseases associated with MRPL14 include endotheliitis, and among its related super-pathways are Viral mRNA Translation. GO annotations related to this gene include structural constituent of ribosome.

UniProtKB/Swiss-Prot: RM14_HUMAN, Q6P1L8
Function: Forms part of 2 intersubunit bridges in the assembled ribosome. Upon binding to MALSU1 intersubunit
bridge formation is blocked, preventing ribosome formation and repressing translation (Probable)




(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_000006.11  NT_007592.15  NC_018917.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the MRPL14 gene promoter:
         Max1   COUP   NF-kappaB   AP-2gamma   AREB6   COUP-TF   AP-2beta   AP-2alpha   c-Myc   AP-2alphaA   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidMRPL14 promoter sequence
   Search SABiosciences Chromatin IP Primers for MRPL14

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat MRPL14


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

Entrez Gene cytogenetic band: 6p21.3   Ensembl cytogenetic band:  6p21.1   HGNC cytogenetic band: 6p21.3

MRPL14 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
MRPL14 gene location

GeneLoc information about chromosome 6         GeneLoc Exon Structure

GeneLoc location for GC06M044128:  view genomic region     (about GC identifiers)

Start:
44,081,194 bp from pter      End:
44,095,194 bp from pter
Size:
14,001 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: RM14_HUMAN, Q6P1L8 (See protein sequence)
Recommended Name: 39S ribosomal protein L14, mitochondrial precursor  
Size: 145 amino acids; 15948 Da
Subunit: Part of the mitochondrial ribosome large subunit (39S) (By similarity); associates with MALSU1
Subcellular location: Mitochondrion
Secondary accessions: B2R575 Q96Q72

Explore the universe of human proteins at neXtProt for MRPL14: NX_Q6P1L8

Explore proteomics data for MRPL14 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q6P1L8

  • MRPL14 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    MRPL14 Protein Expression
    REFSEQ proteins: NP_115487.2  
    ENSEMBL proteins: 
     ENSP00000361084  

    Human Recombinant Protein Products for MRPL14: 
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    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for MRPL14 

    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--

    MRPL14 for ontologies           About GeneDecksing



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    Cloud-Clone Corp. CLIAs for MRPL14


    (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

    2 InterPro protein domains:
     IPR000218 Ribosomal_L14b/L23e
     IPR023571 Ribosomal_L14_dom

    Graphical View of Domain Structure for InterPro Entry Q6P1L8

    ProtoNet protein and cluster: Q6P1L8

    UniProtKB/Swiss-Prot: RM14_HUMAN, Q6P1L8
    Similarity: Belongs to the ribosomal protein L14P family


    MRPL14 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

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: RM14_HUMAN, Q6P1L8
    Function: Forms part of 2 intersubunit bridges in the assembled ribosome. Upon binding to MALSU1 intersubunit
    bridge formation is blocked, preventing ribosome formation and repressing translation (Probable)

         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 IEA--
         
    MRPL14 for ontologies           About GeneDecksing


    Phenotypes:
         2 GenomeRNAi human phenotypes for MRPL14:
     Increased S DNA content  Increased gamma-H2AX phosphory 

    Animal Models:
       inGenious Targeting Laboratory - Custom generated mouse model solutions for MRPL14 
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    1 QIAGEN miScript miRNA Assays for microRNA that regulate MRPL14:
    hsa-miR-661
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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 MRPL14 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 MRPL14):
        Ribosome


    MRPL14 for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for MRPL14

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

    5/251 Interacting proteins for MRPL14 (Q6P1L82, 3 ENSP000003610844) via UniProtKB, MINT, STRING, and/or I2D (see all 251)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ICT1Q141972, 3, ENSP000003015854MINT-8079030 I2D: score=1 STRING: ENSP00000301585
    POLR2CP193873, ENSP000002192524I2D: score=4 STRING: ENSP00000219252
    MYCP011063, ENSP000003672074I2D: score=1 STRING: ENSP00000367207
    TNIKQ9UKE53, ENSP000003995114I2D: score=1 STRING: ENSP00000399511
    ARHGAP1Q079603I2D: score=5 
    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 IEA--

    MRPL14 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 MRPL14 (RM14)

    Search CenterWatch for drugs/clinical trials and news about MRPL14 / RM14

    (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 MRPL14 gene: 
    NM_032111.2  

    Unigene Cluster for MRPL14:

    Mitochondrial ribosomal protein L14
    Hs.311190  [show with all ESTs]
    Unigene Representative Sequence: BM910935
    1 Ensembl transcript including schematic representation, and UCSC links where relevant:
    ENST00000372014(uc003owp.3)
    miRNA
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    1 QIAGEN miScript miRNA Assays for microRNA that regulate MRPL14:
    hsa-miR-661
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    Inhib. RNA
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      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat MRPL14

    Additional mRNA sequence: 

    AK312086.1 BC010416.2 BC065005.1 

    11 DOTS entries:

    DT.444126  DT.101982416  DT.100789156  DT.100046047  DT.100718876  DT.100046035  DT.100789159  DT.100789161 
    DT.99988927  DT.100789157  DT.40291638 

    24/211 AceView cDNA sequences (see all 211):

    BQ329606 BU177321 AA381278 BQ632779 CK823336 AA826784 BU175571 BC065005 
    BQ644169 BP369288 BM694874 BQ772010 BM966958 CR625056 BG231555 BU731679 
    BG768994 BE856287 BQ213469 BC010416 AA192878 CD364518 CF529889 CF541260 

    GeneLoc Exon Structure

    5 Alternative Splicing Database (ASD) splice patterns (SP) for MRPL14    About this scheme

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


    ECgene alternative splicing isoforms for MRPL14

    (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

    MRPL14 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GCTGCTCCCT
    MRPL14 Expression
    About this image


    See MRPL14 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for MRPL14

    SOURCE GeneReport for Unigene cluster: Hs.311190
        SABiosciences Custom PCR Arrays for MRPL14
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MRPL14

    (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 MRPL14 gene from 6/14 species (see all 14)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Mrpl141 , 5 mitochondrial ribosomal protein L141, 5 83.91(n)1
    84.83(a)1
      17 (22.59 cM)5
    684631  NM_026732.21  NP_081008.11 
     456863225 
    chicken
    (Gallus gallus)
    Aves MRPL141 mitochondrial ribosomal protein L14 71.43(n)
    82.86(a)
      421443  XM_419494.3  XP_419494.2 
    lizard
    (Anolis carolinensis)
    Reptilia MRPL146
    Uncharacterized protein
    74(a)
    1 ↔ 1
    1(227360161-227368902)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.136792 Xenopus laevis transcribed sequence with moderate similarity more 78.15(n)    BG408012.1 
    zebrafish
    (Danio rerio)
    Actinopterygii BC049041.12   -- 75.32(n)   394122  BC049041.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta mRpL141 , 3 protein biosynthesis structural
    constituent of more3
    mitochondrial ribosomal protein L141
    51(a)3
    60.88(n)1
    56.2(a)1
      3A13
    312221  NM_080309.31  NP_525048.11 


    ENSEMBL Gene Tree for MRPL14 (if available)
    TreeFam Gene Tree for MRPL14 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for MRPL14 gene

    MRPL14 for paralogs           About GeneDecksing


    1 Pseudogenes.org Pseudogene for MRPL14
    PGOHUM00000237192


    (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

    10/277 SNPs in MRPL14 are shown (see all 277)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 6 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1483580551,2
    --44007992(+) TGACCC/GATAAC 1 -- us2k10--------
    rs1395888921,2
    C--44080911(+) GATTAC/TGTCAT 1 -- ds50010--------
    rs715627931,2
    C,F--44080914(+) TATGTC/TATCTG 1 -- ds50013Minor allele frequency- T:0.04NA 124
    rs1119817371,2
    F--44080984(+) CACAGA/CGGAGT 1 -- ds50012Minor allele frequency- C:0.07CSA WA 120
    rs1443208641,2
    --44080988(+) GAGGAC/GTGTTC 1 -- ds50010--------
    rs93949851,2
    C,F,A,H--44081006(+) CTATCC/GAGAAT 1 -- ds500118Minor allele frequency- G:0.29NS EA NA WA CSA 1151
    rs1147714061,2
    F--44081157(+) AGGATA/CTTTTG 1 -- ds50011Minor allele frequency- C:0.01NA 120
    rs93949861,2
    C,F,A,H--44081203(+) AGCCAC/TGGTAC 1 -- ds5001 ese314Minor allele frequency- T:0.28NA WA CSA EA 512
    rs556583211,2
    F--44081230(+) TTGGTG/ATGTAC 1 -- ds50011Minor allele frequency- A:0.02NA 120
    rs1510308731,2
    C--44081274(+) ACTTAC/TAGGGT 1 -- ds50010--------

    HapMap Linkage Disequilibrium report for MRPL14 (44081194 - 44095194 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 2 variations for MRPL14:    About this table     
    Variant IDTypeSubtypePubMed ID
    nsv509132CNV Insertion20534489
    nsv462935CNV Loss19166990

    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: 611827    OMIM disorders: --

    2 diseases for MRPL14:    About MalaCards
    endotheliitis    


    MRPL14 for disorders           About GeneDecksing

    Genetic Association Database (GAD): MRPL14
    Human Genome Epidemiology (HuGE) Navigator: MRPL14 (1 document)

    Export disorders for MRPL14 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 MRPL14 gene, integrated from 9 sources (see all 18):
    (articles sorted by number of sources associating them with MRPL14)
        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. The DNA sequence and analysis of human chromosome 6. (PubMed id 14574404)1, 2 Mungall A.J.... Beck S. (2003)
    4. The human mitochondrial ribosomal protein genes: mapping of 54 genes to the chromosomes and implications for human disorders. (PubMed id 11543634)1, 2 Kenmochi N....Tanaka T. (2001)
    5. The conserved interaction of C7orf30 with MRPL14 promo tes biogenesis of the mitochondrial large ribosomal subunit and mitochondrial tr anslation. (PubMed id 23171548)1 Fung S....Shoubridge E.A. (2013)
    6. Common genetic variation and antidepressant efficacy i n major depressive disorder: a meta-analysis of three genome-wide pharmacogeneti c studies. (PubMed id 23377640)1 (2013)
    7. A census of human soluble protein complexes. (PubMed id 22939629)1 Havugimana P.C....Emili A. (2012)
    8. RsfA (YbeB) proteins are conserved ribosomal silencing factors. (PubMed id 22829778)2 Hauser R.... Uetz P. (2012)
    9. Identification of cis- and trans-acting genetic varia nts explaining up to half the variation in circulating vascular endothelial gro wth factor levels. (PubMed id 21757650)1 Debette S....Seshadri S. (2011)
    10. Initial characterization of the human central proteome. (PubMed id 21269460)2 Burkard T.R.... Colinge J. (2011)

    (in PubMed, OMIM, and NCBI Bookshelf)
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 64928 HGNC: 14279 AceView: MRPL14 Ensembl:ENSG00000180992 euGenes: HUgn64928
    ECgene: MRPL14 Kegg: 64928 H-InvDB: MRPL14

    (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 MRPL14 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 MRPL14 gene:
    Search GeneIP for patents involving MRPL14

    GeneCards and IP:
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