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

MRPL43 Gene

protein-coding   GIFtS: 46
GCID: GC10M102737

mitochondrial ribosomal protein L43

 Explore 5 diseases affiliated with
MRPL43 via our new
 Human Malady Compendium 
Biological research products
for MRPL43
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

Aliases
Mitochondrial Ribosomal Protein L431 2
BMRP36a1
Mitochondrial Ribosomal Protein BMRP36a2 3
L43mt2 3
MRP-L432 3
39S Ribosomal Protein L43, Mitochondrial2

External Ids:    HGNC: 145171   Entrez Gene: 845452   Ensembl: ENSG000000559507   OMIM: 6118485   UniProtKB: Q8N9833   

Export aliases for MRPL43 gene to outside databases

Previous GC identifers: GC10M101639 GC10M101971 GC10M102860 GC10M102402 GC10M102727 GC10M096366


(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 MRPL43:
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.
This gene and the gene for a semaphorin class 4 protein (SEMA4G) overlap at map location 10q24.31 and are transcribed
in opposite directions. Sequence analysis identified multiple transcript variants encoding at least four different
protein isoforms. (provided by RefSeq, Jul 2008)




(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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000010.10  NC_018921.1  NT_030059.13  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the MRPL43 gene promoter:
         COUP-TF1   Sp1   Pax-5   COUP   HNF-4alpha2   HNF-4alpha1   COUP-TF   NF-kappaB1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidMRPL43 promoter sequence
   Search SABiosciences Chromatin IP Primers for MRPL43

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat MRPL43


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

Entrez Gene cytogenetic band: 10q24.31   Ensembl cytogenetic band:  10q24.31   HGNC cytogenetic band: 10q24.31

MRPL43 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
MRPL43 gene location

GeneLoc information about chromosome 10         GeneLoc Exon Structure

GeneLoc location for GC10M102737:  view genomic region     (about GC identifiers)

Start:
102,729,215 bp from pter      End:
102,747,272 bp from pter
Size:
18,058 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: RM43_HUMAN, Q8N983 (See protein sequence)
Recommended Name: 39S ribosomal protein L43, mitochondrial precursor  
Size: 215 amino acids; 23431 Da
Subcellular location: Mitochondrion
Secondary accessions: B1AL07 B1AL09 B1AL10 D3DR71 Q5JW06 Q7Z719 Q7Z7H6 Q86XN1 Q9BYC7
Alternative splicing: 4 isoforms:  Q8N983-1   Q8N983-2   Q8N983-3   Q8N983-4   (Ref.1 (BAB40861) sequence differs from that shown due to frameshifts in positions 131 and 210)

Explore the universe of human proteins at neXtProt for MRPL43: NX_Q8N983

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q8N983

  • MRPL43 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins (4 alternative transcripts): 
    NP_115488.2  NP_789762.1  NP_789763.1  NP_789764.1  

    ENSEMBL proteins: 
     ENSP00000430369   ENSP00000315364   ENSP00000359261   ENSP00000359262   ENSP00000408806  
     ENSP00000299179   ENSP00000359256   ENSP00000315948   ENSP00000359254   ENSP00000339844  

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    Uscn Proteins for MRPL43

    Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005739mitochondrion ----
    GO:0005761mitochondrial ribosome NAS11543634
    GO:0005840ribosome ----


    MRPL43 for ontologies           About GeneDecksing



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    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    MRPL43 for domains           About GeneDecksing

    2 InterPro domains/families:
     IPR012336 Thioredoxin-like_fold
     IPR007741 Ribosome/NADH_DH

    Graphical View of Domain Structure for InterPro Entry Q8N983

    ProtoNet protein and cluster: Q8N983

    1 Blocks protein family: IPB007741 Mitochondrial ribosome

    UniProtKB/Swiss-Prot: RM43_HUMAN, Q8N983
    Similarity: Belongs to the ribosomal protein S25/L51 family


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    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, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section

    miRNA
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    hsa-miR-2355-5p hsa-miR-125a-3p
    SwitchGear 3'UTR luciferase reporter plasmidMRPL43 3' UTR sequence
    Inhib. RNA
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    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 NAS11543634


    MRPL43 for ontologies           About GeneDecksing



    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, 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 Mar 2013 via Entrez Gene).
    About This Section



    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for MRPL43

    STRING Interaction Network Preview (showing 5 interactants - click image to see 6)

    5/236 Interacting proteins for MRPL43 (Q8N9832, 3 ENSP000003398444) via UniProtKB, MINT, STRING, and/or I2D (see all 236)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ICT1Q141972, 3, ENSP000003015854MINT-8079030 I2D: score=1 STRING: ENSP00000301585
    ARRB2P321213, ENSP000002692604I2D: score=2 STRING: ENSP00000269260
    EIF1BO607393, ENSP000002329054I2D: score=1 STRING: ENSP00000232905
    DDX56Q9NY933, ENSP000002587724I2D: score=2 STRING: ENSP00000258772
    AARS2Q5JTZ92MINT-8079030
    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 NAS11543634


    MRPL43 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, 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 MRPL43
    Search CenterWatch for drugs/clinical trials and news about MRPL43 / RM43 

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 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,
    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, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for MRPL43 gene (4 alternative transcripts): 
    NM_032112.2  NM_176792.2  NM_176793.1  NM_176794.1  

    Unigene Cluster for MRPL43:

    Mitochondrial ribosomal protein L43
    Hs.744144  [show with all ESTs]
    Unigene Representative Sequence: NM_176792
    14 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000523148 ENST00000318325(uc001kry.1 uc010qpu.1) ENST00000370241
    ENST00000370242 ENST00000476012(uc001krz.1) ENST00000448244 ENST00000299179
    ENST00000370236 ENST00000493646 ENST00000318364(uc001ksc.3 uc001ksd.1)
    ENST00000477279 ENST00000370234 ENST00000487059 ENST00000342071(uc001ksa.1 uc001ksb.1)


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    Inhib. RNA
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    Additional cDNA sequence: 

    AB049656.1 AF086122.1 AK095556.1 AK291069.1 AK300237.1 BC015905.1 BC031287.1 BC041165.1 
    BC052639.1 BC053373.1 

    23 DOTS entries:

    DT.100826449  DT.455116  DT.97846893  DT.95158436  DT.97846895  DT.87016066  DT.447369  DT.92454514 
    DT.121293602  DT.95158431  DT.100826456  DT.100712338  DT.102843359  DT.121293595  DT.95212746  DT.92454517 
    DT.95158442  DT.95258822  DT.100712337  DT.100826453  DT.100826455  DT.99937075  DT.95098189 

    24/388 AceView cDNA sequences (see all 388):

    BC052639 AI828278 CA844070 BM707761 BU580612 AI378403 NM_176794 BX341409 
    AI184400 T34337 BU689273 AA693829 CA415379 BU507377 AA627500 BC041165 
    AA987570 CA942279 F27590 BQ286786 AI014795 CR593768 AI867984 CR616314 

    GeneLoc Exon Structure

    5/6 Alternative Splicing Database (ASD) splice patterns (SP) for MRPL43 (see all 6)    About this scheme

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


    ECgene alternative splicing isoforms for MRPL43

    (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

    MRPL43 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: CTGTCCAGGG

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)

    About this image
    See MRPL43 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for MRPL43

    SOURCE GeneReport for Unigene cluster: Hs.744144

    UniProtKB/Swiss-Prot: RM43_HUMAN, Q8N983
    Tissue specificity: High relative levels in skeletal muscle and testis. Lower levels of expression in the heart, brain,
    placenta, lung, liver, kidney, pancreas, spleen, thymus, prostate, ovary, small intestine, colon and leukocytes.
    Expression is coregulated with PEO1

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    In Situ
    Assay Products:
     

     
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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 eukaryotes.

    Orthologs for MRPL43 gene from 8/25 species (see all 25)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Mrpl431 , 5 mitochondrial ribosomal protein L431, 5 82.39(n)1
    81.13(a)1
      19 (38.19 cM)5
    940671  NM_053164.31  NP_444394.11 
     450050145 
    lizard
    (Anolis carolinensis)
    Reptilia MRPL436
    --
    61(a)
    1 ↔ 1
    3(39294351-39298856)
    African clawed frog
    (Xenopus laevis)
    Amphibia MGC540022 similar to mitochondrial ribosomal protein L43 73.99(n)    BC044005.1 
    zebrafish
    (Danio rerio)
    Actinopterygii Dr.180762 Transcribed sequence with weak similarity to protein refNP_444394.1 (M.musculus) mitochondrial ribosomal protein L43 [Mus musculus] less 79.01(n)    BQ614690.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta mRpL431 mitochondrial ribosomal protein L43 51.85(n)
    46.83(a)
      37750  NM_079104.2  NP_523828.1 
    worm
    (Caenorhabditis elegans)
    Secernentea mrpl-341 Protein MRPL-34 39.19(n)
    35.88(a)
      182876  NM_060285.1  NP_492686.1 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons AT3G596506
    mitochondrial ribosomal protein L51/S25/CI-B8 fami...
    21(a)
    1 ↔ 1
    3(22033129-22034157)
    rice
    (Oryza sativa)
    Liliopsida --
    ribosomal protein L51, putative, expressed
    27(a)
    1 ↔ 1
    3(5612250-5614478)


    ENSEMBL Gene Tree for MRPL43 (if available)
    TreeFam Gene Tree for MRPL43 (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, UniProtKB, 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

    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 2 variations for MRPL43
         2 CNVs: 48397 4711
    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing MRPL43
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    (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.)
    About This Section

    MRPL43 for disorders           About GeneDecksing

    OMIM gene information: 611848    OMIM disorders: --

    5 diseases for MRPL43:    About MalaCards
    chronic progressive external ophthalmoplegia    ophthalmoplegia    paraplegia    alzheimer's disease
    prostatitis

    Human Genome Epidemiology (HuGE) Navigator: MRPL43 (2 documents)

    Export disorders for MRPL43 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 MRPL43 gene, integrated from 9 sources (see all 18):
    (articles sorted by number of sources associating them with MRPL43)
        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. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    3. Twinkle helicase is essential for mtDNA maintenance and regulates mtDNA copy number. (PubMed id 15509589)1, 2 Tyynismaa H.... Suomalainen A. (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. A census of human soluble protein complexes. (PubMed id 22939629)1 Havugimana P.C....Emili A. (2012)
    6. Initial characterization of the human central proteome. (PubMed id 21269460)2 Burkard T.R.... Colinge J. (2011)
    7. Mass spectrometric analysis of lysine ubiquitylation r eveals promiscuity at site level. (PubMed id 21139048)1 Danielsen J.M....Nielsen M.L. (2011)
    8. 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)
    9. Systematic analysis of human protein complexes identi fies chromosome segregation proteins. (PubMed id 20360068)1 Hutchins J.R....Peters J.M. (2010)
    10. Genetic variants in nuclear-encoded mitochondrial gen es influence AIDS progression. (PubMed id 20877624)1 Hendrickson S.L....O'Brien S.J. (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: 84545 HGNC: 14517 AceView: MRPL43 Ensembl:ENSG00000055950 euGenes: HUgn84545
    ECgene: MRPL43 H-InvDB: MRPL43

    (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 MRPL43 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 MRPL43 gene:
    Search GeneIP for patents involving MRPL43

    GeneCards and IP:
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