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

MRPL49 Gene

protein-coding   GIFtS: 54
GCID: GC11P064889

Mitochondrial Ribosomal Protein L49

(Previous name: chromosome 11 open reading frame 4)
(Previous symbol: C11orf4)
  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

This gene clusters with an RNA gene
Subcategory (RNA class): lncRNA

Quality score for the ORGUL clustered with this gene is 3

Aliases
Mitochondrial Ribosomal Protein L491 2     MRP-L492 3
C11orf41 2 3     NOF2 3
Neighbor Of FAU1 2 3     Chromosome 11 Open Reading Frame 41
NOF12 3 5     39S Ribosomal Protein L49, Mitochondrial2
Next To FAU1 2     Protein NOF13
L49mt2 3     

External Ids:    HGNC: 11761   Entrez Gene: 7402   Ensembl: ENSG000001497927   OMIM: 6068665   UniProtKB: Q134053   
ORGUL members:         
NONCODE14:n410436 n410437      

Export aliases for MRPL49 gene to outside databases

Previous GC identifers: GC11P067405 GC11P066571 GC11P065139 GC11P064665 GC11P064646 GC11P061216


(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 MRPL49 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. Pseudogenes
corresponding to this gene are found on chromosomes 5q and 8p. (provided by RefSeq, May 2011)

GeneCards Summary for MRPL49 Gene: 
MRPL49 (mitochondrial ribosomal protein L49) is a protein-coding gene, and is affiliated with the lncRNA class. Diseases associated with MRPL49 include glossopharyngeal neuralgia, and thoracic outlet syndrome. 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_000011.9  NC_018922.2  NT_167190.1  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the MRPL49 gene promoter:
         HEN1   GR   AP-1   GR-beta   GR-alpha   ATF   ATF6   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidMRPL49 promoter sequence
   Search SABiosciences Chromatin IP Primers for MRPL49

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat MRPL49


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

Entrez Gene cytogenetic band: 11q13   Ensembl cytogenetic band:  11q13.1   HGNC cytogenetic band: 11q13.1

MRPL49 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
MRPL49 gene location

GeneLoc information about chromosome 11         GeneLoc Exon Structure

GeneLoc location for GC11P064889:  view genomic region     (about GC identifiers)

Start:
64,889,655 bp from pter      End:
64,894,843 bp from pter
Size:
5,189 bases      Orientation:
plus strand
ORGUL member locations:
Legend (see complete legend)

ORGUL Member Locations for MRPL49

(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: RM49_HUMAN, Q13405 (See protein sequence)
Recommended Name: 39S ribosomal protein L49, mitochondrial  
Size: 166 amino acids; 19198 Da
Subunit: Interacts with OXA1L (By similarity)
Subcellular location: Mitochondrion
Secondary accessions: B2R4G6

Explore the universe of human proteins at neXtProt for MRPL49: NX_Q13405

Explore proteomics data for MRPL49 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q13405

  • MRPL49 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    MRPL49 Protein Expression
    REFSEQ proteins: NP_004918.1  
    ENSEMBL proteins: 
     ENSP00000434222   ENSP00000434190   ENSP00000437177   ENSP00000279242   ENSP00000436740  
     ENSP00000434052  

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    Novus Biologicals MRPL49 Proteins
    Novus Biologicals MRPL49 Lysates
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for MRPL49 

    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:0005761mitochondrial ribosome IDA--
    GO:0005840ribosome ----

    MRPL49 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:
     IPR007740 Ribosomal_L49/IMG2

    Graphical View of Domain Structure for InterPro Entry Q13405

    ProtoNet protein and cluster: Q13405

    1 Blocks protein domain: IPB007740 Mitochondrial large ribosomal subunit

    UniProtKB/Swiss-Prot: RM49_HUMAN, Q13405
    Similarity: Belongs to the ribosomal protein L49em family


    MRPL49 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 IEA--
    GO:0005515protein binding IPI--
         
    MRPL49 for ontologies           About GeneDecksing


    Phenotypes:
         2 GenomeRNAi human phenotypes for MRPL49:
     Increased cell death in DLD-1   Synthetic lethal with Ras 

    Animal Models:
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    SwitchGear 3'UTR luciferase reporter plasmidMRPL49 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



    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for MRPL49

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

    5/250 Interacting proteins for MRPL49 (Q134052, 3 ENSP000002792424) via UniProtKB, MINT, STRING, and/or I2D (see all 250)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ICT1Q141972, 3, ENSP000003015854MINT-8079030 I2D: score=1 STRING: ENSP00000301585
    OXA1LQ150703, ENSP000002858484I2D: score=1 STRING: ENSP00000285848
    SLC2A4P146723I2D: score=1 
    AARS2Q5JTZ92MINT-8079030
    AASSQ9UDR52MINT-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 IEA--

    MRPL49 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 MRPL49 (RM49)

    Search CenterWatch for drugs/clinical trials and news about MRPL49 / RM49

    (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 MRPL49 gene: 
    NM_004927.3  

    Unigene Cluster for MRPL49:

    Mitochondrial ribosomal protein L49
    Hs.744882  [show with all ESTs]
    Unigene Representative Sequence: AK123252
    9 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000524482(uc021qle.1) ENST00000528529 ENST00000534078 ENST00000526319
    ENST00000526171 ENST00000279242(uc001oda.2 uc021qlf.1) ENST00000531705
    ENST00000533943 ENST00000532671
    miRNA
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    8/17 QIAGEN miScript miRNA Assays for microRNAs that regulate MRPL49 (see all 17):
    hsa-let-7a-2* hsa-miR-633 hsa-let-7g* hsa-miR-548x hsa-miR-33b hsa-miR-548am hsa-miR-548d-3p hsa-miR-3922-3p
    SwitchGear 3'UTR luciferase reporter plasmidMRPL49 3' UTR sequence
    Inhib. RNA
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    Additional mRNA sequence: 

    AB062395.1 AK123252.1 AK129795.1 AK129986.1 AK311821.1 BC004378.1 NR_037567.1 NR_037568.1 
    U39400.1 

    17 DOTS entries:

    DT.101985422  DT.100877663  DT.92451625  DT.100877668  DT.100033450  DT.100877655  DT.92451615  DT.86854286 
    DT.449206  DT.120709077  DT.120709087  DT.101987166  DT.120709015  DT.100877670  DT.100709824  DT.120709093 
    DT.95242444 

    24/687 AceView cDNA sequences (see all 687):

    AA401916 AI024690 BM666458 BU856995 BQ879683 BQ687009 AI376817 BM465885 
    BP356785 AW015072 CR593043 BG818451 AA904773 AL533740 BI856372 AK129986 
    BG255113 BQ691872 AI829931 AI917609 AI360318 BQ023717 CD557273 BQ690975 

    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

    MRPL49 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GAAACCCTCA
    MRPL49 Expression
    About this image


    See MRPL49 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for MRPL49

    SOURCE GeneReport for Unigene cluster: Hs.744882

    UniProtKB/Swiss-Prot: RM49_HUMAN, Q13405
    Tissue specificity: Ubiquitous

        SABiosciences Custom PCR Arrays for MRPL49
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    In Situ
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MRPL49

    (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 MRPL49 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 Mrpl491 , 5 mitochondrial ribosomal protein L491, 5 82.73(n)1
    83.13(a)1
      19 (4.34 cM)5
    181201  NM_026246.31  NP_080522.11 
     60536305 
    chicken
    (Gallus gallus)
    Aves LOC1008585321 39S ribosomal protein L49, mitochondrial-like 64.02(n)
    56.82(a)
      100858532  XM_003643505.1  XP_003643553.1 
    lizard
    (Anolis carolinensis)
    Reptilia MRPL496
    Uncharacterized protein
    70(a)
    1 ↔ 1
    GL344606.1(1170-5601)
    African clawed frog
    (Xenopus laevis)
    Amphibia AW635120.12   -- 74.65(n)    AW635120.1 
    zebrafish
    (Danio rerio)
    Actinopterygii Dr.136242 Transcribed sequence with weak similarity to protein more 74.85(n)    BI867192.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta mRpL491 mitochondrial ribosomal protein L49 55.03(n)
    42.06(a)
      32242  NM_132611.2  NP_572839.1 
    worm
    (Caenorhabditis elegans)
    Secernentea mrpl-496
    Probable 39S ribosomal protein L49, mitochondrial
    26(a)
    1 ↔ 1
    V(12728631-12729415)


    ENSEMBL Gene Tree for MRPL49 (if available)
    TreeFam Gene Tree for MRPL49 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for MRPL49 gene

    MRPL49 for paralogs           About GeneDecksing


    2 Pseudogenes.org Pseudogenes for MRPL49
    PGOHUM00000251370 PGOHUM00000249581


    (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

    10/71 SNPs in MRPL49 are shown (see all 71)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 11 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0219914
    ----see VAR_0219912 T A mis40--------
    rs1400603971,2
    --64891763(+) GAACTC/GTCTCT 3 -- int10--------
    rs1851511811,2
    --64891773(+) TTCGTA/GGCCCT 3 -- int10--------
    rs1902488581,2
    --64891860(+) CCAGCC/GTTTTA 3 -- int10--------
    rs1811320381,2
    C--64891938(+) GGGTAA/GGCTAA 3 -- int10--------
    rs2013534251,2
    C--64891972(+) GCTTCA/GGAGCC 3 -- spa1 int10--------
    rs115463651,2
    H--64892028(+) ATGAAT/CATCAG 4 /H /Y mis1 int1 ese34Minor allele frequency- C:0.00NS EA 406
    rs1424869481,2
    C,F--64892043(+) TGGAGC/TGCCTG 4 R C mis1 int11Minor allele frequency- T:0.00NA 4552
    rs2011735111,2
    C--64892054(+) TTACCA/GGCTAC 4 P syn1 int10--------
    rs1502930821,2
    C--64892057(+) CCGGCC/TACCAG 4 A syn1 int10--------

    HapMap Linkage Disequilibrium report for MRPL49 (64889655 - 64894843 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 2 variations for MRPL49:    About this table     
    Variant IDTypeSubtypePubMed ID
    dgv1174n71CNV Loss21882294
    nsv526181CNV Gain19592680

    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: 606866    OMIM disorders: --

    3 diseases for MRPL49:    About MalaCards
    glossopharyngeal neuralgia    thoracic outlet syndrome    ossifying fibroma

    1 disease from the University of Copenhagen DISEASES database for MRPL49:
    Glossopharyngeal neuralgia

    MRPL49 for disorders           About GeneDecksing

    Genetic Association Database (GAD): MRPL49
    Human Genome Epidemiology (HuGE) Navigator: MRPL49 (1 document)

    Export disorders for MRPL49 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 MRPL49 gene, integrated from 9 sources (see all 18):
    (articles sorted by number of sources associating them with MRPL49)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Isolation, cDNA, and genomic structure of a conserved gene (NOF) at chromosome 11q13 next to FAU and oriented in the opposite transcriptional orientation. (PubMed id 8786148)1, 2, 3, 9 Kas K.... Merregaert J. (1996)
    2. Genetic variants in nuclear-encoded mitochondrial gen es influence AIDS progression. (PubMed id 20877624)1, 4 Hendrickson S.L....O'Brien S.J. (2010)
    3. 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)
    4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    5. The large subunit of the mammalian mitochondrial ribosome. Analysis of the complement of ribosomal proteins present. (PubMed id 11551941)1, 2 Koc E.C....Spremulli L.L. (2001)
    6. A newly uncovered group of distantly related lysine methyltransferases preferentially interact with molecular chaperones to regulate their activity. (PubMed id 23349634)1 Cloutier P.... Coulombe B. (2013)
    7. Quantitative study of the interactome of PKCz involved in the EGF-induced tumor cell chemotaxis. (PubMed id 23402259)1 Chen R....Zhang N. (2013)
    8. A census of human soluble protein complexes. (PubMed id 22939629)1 Havugimana P.C....Emili A. (2012)
    9. Biochemical and phosphoproteomic analysis of the helix -loop-helix protein E47. (PubMed id 22354994)1 Teachenor R....Murre C. (2012)
    10. Initial characterization of the human central proteome. (PubMed id 21269460)2 Burkard T.R.... Colinge J. (2011)

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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 740 HGNC: 1176 AceView: MRPL49 Ensembl:ENSG00000149792 euGenes: HUgn740
    ECgene: MRPL49 H-InvDB: MRPL49

    (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 MRPL49 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 MRPL49 gene:
    Search GeneIP for patents involving MRPL49

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



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