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MRM1 Gene

protein-coding   GIFtS: 53
GCID: GC17P034958

Mitochondrial RRNA Methyltransferase 1 Homolog (S. Cerevisiae)

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(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Mitochondrial RRNA Methyltransferase 1 Homolog (S. Cerevisiae)1 2
Mitochondrial Large Ribosomal RNA Ribose Methylase2 3
RRNA Methyltransferase 1, Mitochondrial2
EC 2.1.1.-3

External Ids:    HGNC: 262021   Entrez Gene: 799222   Ensembl: ENSG000001292827   UniProtKB: Q6IN843   

Export aliases for MRM1 gene to outside databases

Previous GC identifers: GC17P032033 GC17P030895


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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GeneCards Summary for MRM1 Gene:
MRM1 (mitochondrial rRNA methyltransferase 1 homolog (S. cerevisiae)) is a protein-coding gene. GO annotations related to this gene include RNA binding and RNA methyltransferase activity.

UniProtKB/Swiss-Prot: MRM1_HUMAN, Q6IN84
Function: Probably methylates the ribose of guanosine G-2270 in the peptidyl transferase center of the
mitochondrial large ribosomal RNA (21S) (By similarity)




(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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000017.10  NT_010783.16  NT_187614.1  NC_018928.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the MRM1 gene promoter:
         Max1   POU3F2 (N-Oct-5b)   POU3F2 (N-Oct-5a)   CUTL1   Nkx2-5   POU3F2   c-Ets-1   PPAR-gamma1   SEF-1 (1)   PPAR-gamma2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidMRM1 promoter sequence
   Search Chromatin IP Primers for MRM1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat MRM1


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

Entrez Gene cytogenetic band: 17q12   Ensembl cytogenetic band:  17q12   HGNC cytogenetic band: 17q12

MRM1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
MRM1 gene location

GeneLoc information about chromosome 17         GeneLoc Exon Structure

GeneLoc location for GC17P034958:  view genomic region     (about GC identifiers)

Start:
34,958,001 bp from pter      End:
34,965,407 bp from pter
Size:
7,407 bases      Orientation:
plus strand

1 alternative location:
Chr17+,NW_003315949 486,934-494,316     

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: MRM1_HUMAN, Q6IN84 (See protein sequence)
Recommended Name: rRNA methyltransferase 1, mitochondrial precursor  
Size: 353 amino acids; 38638 Da
Secondary accessions: A8K8E2 Q96GK2 Q9H664
Alternative splicing: 2 isoforms:  Q6IN84-1   Q6IN84-2   

Explore the universe of human proteins at neXtProt for MRM1: NX_Q6IN84

Explore proteomics data for MRM1 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See MRM1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_079140.2  
    ENSEMBL proteins: 
     ENSP00000250156   ENSP00000465317  

    MRM1 Human Recombinant Protein Products:

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    3 InterPro protein domains:
     IPR001537 SpoU_MeTrfase
     IPR013123 SpoU_subst-bd
     IPR004441 rRNA_MeTrfase_TrmH

    Graphical View of Domain Structure for InterPro Entry Q6IN84

    ProtoNet protein and cluster: Q6IN84

    2 Blocks protein domains:
    IPB001537 tRNA/rRNA methyltransferase (SpoU)
    IPB002110 Ankyrin repeat signature


    UniProtKB/Swiss-Prot: MRM1_HUMAN, Q6IN84
    Similarity: Belongs to the RNA methyltransferase TrmH family


    Find genes that share domains with MRM1           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: MRM1_HUMAN, Q6IN84
    Function: Probably methylates the ribose of guanosine G-2270 in the peptidyl transferase center of the
    mitochondrial large ribosomal RNA (21S) (By similarity)

         Enzyme Number (IUBMB): EC 2.1.1.-1

         Gene Ontology (GO): 4 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003723RNA binding ----
    GO:0008168methyltransferase activity ----
    GO:0008173RNA methyltransferase activity IEA--
    GO:0044822poly(A) RNA binding IDA--
         
    Find genes that share ontologies with MRM1           About GenesLikeMe


    Phenotypes:
         2 GenomeRNAi human phenotypes for MRM1:
     Decreased TP53 protein express  Increased gamma-H2AX phosphory 

    Animal Models:
       genOway: Develop your customized and physiologically relevant rodent model for MRM1

    miRNA
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    miRTarBase miRNAs that target MRM1:
    hsa-mir-26b-5p (MIRT030068), hsa-let-7b-5p (MIRT001616)

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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    MRM1_HUMAN, Q6IN84: Mitochondrion (Potential)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    mitochondrion3
    cytosol2
    nucleus1

    Gene Ontology (GO): 1 cellular component term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005739mitochondrion IEA--

    Find genes that share ontologies with MRM1           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to 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 QIAGEN, 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 Apr 2014 via Entrez Gene).
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        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for MRM1
    Interactions:

        Search GeneGlobe Interaction Network for MRM1

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

    Selected Interacting proteins for MRM1 (Q6IN842, 3 ENSP000002501564) via UniProtKB, MINT, STRING, and/or I2D (see all 271)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ICT1Q141972, 3, ENSP000003015854MINT-8079030 I2D: score=1 STRING: ENSP00000301585
    EEF1A1P681042, 3, ENSP000003300544MINT-8263302 I2D: score=2 STRING: ENSP00000330054
    MRPL15Q9P0152, ENSP000002601024MINT-8079030 STRING: ENSP00000260102
    MRPL20Q9BYC92, ENSP000003410824MINT-8079030 STRING: ENSP00000341082
    HSPD1P108092, ENSP000003400194MINT-8079030 STRING: ENSP00000340019
    About this table

    Gene Ontology (GO): 1 biological process term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006396RNA processing IEA--

    Find genes that share ontologies with MRM1           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for MRM1



    (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,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for MRM1 gene: 
    NM_024864.4  

    Unigene Cluster for MRM1:

    Mitochondrial rRNA methyltransferase 1 homolog (S. cerevisiae)
    Hs.194864  [show with all ESTs]
    Unigene Representative Sequence: NM_024864
    2 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000250156(uc002hne.3 uc002hnf.3) ENST00000585770
    miRNA
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      QuantiTect SYBR Green Assays in human, mouse, rat MRM1
      QuantiFast Probe-based Assays in human, mouse, rat MRM1

    Additional mRNA sequence: 

    AK026231.1 AK225449.1 AK292307.1 BC009416.1 BC072411.1 CR457357.1 

    4 DOTS entries:

    DT.100778309  DT.102822734  DT.99999079  DT.100844427 

    Selected AceView cDNA sequences (see all 61):

    CR616141 BX458442 CR607365 AW204625 AI675805 CR618401 BC009416 NM_024864 
    CF129667 BE047635 CR601982 AW663201 BM558424 BU161348 CR622648 BX385549 
    AI611025 BU734592 CB137408 BU633283 BG116245 AW517016 BX358648 BM711697 

    GeneLoc Exon Structure

    2 Alternative Splicing Database (ASD) splice patterns (SP) for MRM1    About this scheme

    ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6
    SP1:                                    
    SP2:        -                           


    ECgene alternative splicing isoforms for MRM1

    (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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    MRM1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GAGGGAATCT
    MRM1 Expression
    About this image

    MRM1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    MRM1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.194864
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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)
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    This gene was present in the common ancestor of animals and fungi.

    Orthologs for MRM1 gene from Selected species (see all 17)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Mrm11 , 5 mitochondrial rRNA methyltransferase 1 homolog (S. more1, 5 83.01(n)1
    81.94(a)1
      11 (51.34 cM)5
    2170381  NM_145433.11  NP_663408.21 
     848130615 
    chicken
    (Gallus gallus)
    Aves MRM11 mitochondrial rRNA methyltransferase 1 homolog (S. more 57.92(n)
    54.26(a)
      772219  XM_001235386.2  XP_001235387.2 
    lizard
    (Anolis carolinensis)
    Reptilia MRM16
    mitochondrial rRNA methyltransferase 1 homolog (S....
    49(a)
    1 ↔ 1
    GL343439.1(774860-786509)
    zebrafish
    (Danio rerio)
    Actinopterygii mrm11 mitochondrial rRNA methyltransferase 1 homolog (S. more 51.82(n)
    49.64(a)
      563095  XM_686462.5  XP_691554.4 
    worm
    (Caenorhabditis elegans)
    Secernentea CELE_Y45F3A.91 CELE_Y45F3A.9 43.41(n)
    34.27(a)
      3565184  NM_066932.3  NP_499333.1 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes MRM1(YOR201C)4
    MRM11
    Ribose methyltransferase that modifies a functionally more4
    MRM11
    42.77(n)1
    32.35(a)1
      15(721708-720470)4
    8543761, 4  NP_014844.31  NP_014844.14 


    ENSEMBL Gene Tree for MRM1 (if available)
    TreeFam Gene Tree for MRM1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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      --

    (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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for MRM1 (see all 211)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 17 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs608948611,2
    C,F--34957779(+) AAGACT/GGAATT 1 -- us2k11Minor allele frequency- G:0.03WA 118
    rs1465182071,2
    C--34957984(+) CGTCA-/GGAA  
     GGGGCCG
    GGGAG
    1 -- us2k10--------
    rs1432171401,2
    --34958029(+) GAGGGA/GCCCAC 1 -- ut510--------
    rs1483003161,2
    --34958058(+) GTGGTC/TGTAGC 1 -- ut510--------
    rs760709901,2
    C,F--34958092(+) CGGGGC/TTGTTT 1 -- ut512Minor allele frequency- T:0.06WA EA 238
    rs1406029231,2
    --34958170(+) GGAGCA/GAACTG 1 -- ut510--------
    rs2018475521,2
    C--34958233(+) GGGAGC/TTGCGC 1 -- ut511Minor allele frequency- T:0.00EU 881
    rs1835076091,2
    C--34958243(+) CCATGA/GCATTG 2 T A mis10--------
    rs2009279381,2
    C--34958256(+) CTCGAC/TCGTCC 2 T I mis11Minor allele frequency- T:0.00EU 1183
    rs1504945951,2
    C,F--34958290(+) GTCACC/TCGTCA 2 T syn11Minor allele frequency- T:0.00NA 4170

    HapMap Linkage Disequilibrium report for MRM1 (34958001 - 34965407 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 5 variations for MRM1:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv469760CNV Loss16826518
    nsv833429CNV Gain17160897
    esv2751645CNV Gain17911159
    essv9000CNV CNV17122850
    dgv953e1CNV Complex17122850

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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.)
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    Find genes that share disorders with MRM1           About GenesLikeMe

    Genetic Association Database (GAD): MRM1
    Human Genome Epidemiology (HuGE) Navigator: MRM1 (1 document)

    Export disorders for MRM1 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)
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    PubMed articles for MRM1 gene, integrated from 10 sources (see all 14):
    (articles sorted by number of sources associating them with MRM1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Mitochondrial ribosomal RNA (rRNA) methyltransferase family members are positioned to modify nascent rRNA in foci near the mitochondrial DNA nucleoid. (PubMed id 24036117)1, 3 Lee K.W....Bogenhagen D.F. (J. Biol. Chem. 2013)
    2. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PubMed id 20877624)1, 4 Hendrickson S.L....O'Brien S.J. (PLoS ONE 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. (Genome Res. 2004)
    4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    5. Pathway Analysis of ChIP-Seq-Based NRF1 Target Genes Suggests a Logical Hypothesis of their Involvement in the Pathogenesis of Neurodegenerative Diseases. (PubMed id 24250222)1 Satoh J....Yamamoto Y. (Gene Regul Syst Bio 2013)
    6. Genome wide study of maternal and parent-of-origin effects on the etiology of orofacial clefts. (PubMed id 22419666)4 Shi M....Beaty T.H. (Am. J. Med. Genet. A 2012)
    7. Initial characterization of the human central proteome. (PubMed id 21269460)2 Burkard T.R.... Colinge J. (BMC Syst. Biol. 2011)
    8. A directed protein interaction network for investigating intracellular signal transduction. (PubMed id 21900206)1 Vinayagam A....Wanker E.E. (Sci Signal 2011)
    9. A functional peptidyl-tRNA hydrolase, ICT1, has been recruited into the human mitochondrial ribosome. (PubMed id 20186120)1 Richter R....Chrzanowska-Lightowlers Z.M. (EMBO J. 2010)
    10. hORFeome v3.1: a resource of human open reading frames representing over 10,000 human genes. (PubMed id 17207965)1 Lamesch P.... Vidal M. (Genomics 2007)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 79922 HGNC: 26202 AceView: FLJ22578 Ensembl:ENSG00000129282 euGenes: HUgn79922
    ECgene: MRM1 H-InvDB: MRM1

    (According to HUGE)
    About This Section

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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

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    NameDescription
    PharmGKB entry for MRM1 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for MRM1 gene:
    Search GeneIP for patents involving MRM1

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



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, eBioscience, antibodies-online, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from genOway)
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