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

RNMTL1 Gene

protein-coding   GIFtS: 51
GCID: GC17P000685

RNA methyltransferase like 1

 Explore 3 diseases affiliated with
RNMTL1 via our new
 Human Malady Compendium 
Biological research products
for RNMTL1
    

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

Aliases
RNA Methyltransferase Like 11 2     RNA Methyltransferase-Like Protein 12
HC901 5     EC 2.1.1.-3
FLJ105811     EC 2.1.18
Putative RNA Methyltransferase2     

External Ids:    HGNC: 184851   Entrez Gene: 551782   Ensembl: ENSG000001718617   OMIM: 6126005   UniProtKB: Q9HC363   

Export aliases for RNMTL1 gene to outside databases

Previous GC identifers: GC00U991199 GC17P000633 GC17P000596


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

UniProtKB/Swiss-Prot: RMTL1_HUMAN, Q9HC36
Function: Probable RNA methyltransferase (By similarity)

Gene Wiki entry for RNMTL1


(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_000017.10  NC_018928.1  NT_010718.16  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the RNMTL1 gene promoter:
         ER-alpha   AhR   NF-1   CUTL1   C/EBPalpha   GATA-2   Arnt   FOXO1a   FOXO1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidRNMTL1 promoter sequence
   Search SABiosciences Chromatin IP Primers for RNMTL1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat RNMTL1


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

Entrez Gene cytogenetic band: 17p13.3   Ensembl cytogenetic band:  17p13.3   HGNC cytogenetic band: 17p13.3

RNMTL1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
RNMTL1 gene location

GeneLoc information about chromosome 17         GeneLoc Exon Structure

GeneLoc location for GC17P000685:  view genomic region     (about GC identifiers)

Start:
685,513 bp from pter      End:
695,749 bp from pter
Size:
10,237 bases      Orientation:
plus 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: RMTL1_HUMAN, Q9HC36 (See protein sequence)
Recommended Name: RNA methyltransferase-like protein 1  
Size: 420 amino acids; 47020 Da
Secondary accessions: Q53GN1 Q86VC3 Q96F76 Q9NVQ5

Explore the universe of human proteins at neXtProt for RNMTL1: NX_Q9HC36

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q9HC36

  • 3 DME Specific Peptides for RNMTL1 (Q9HC36)
     SLNSAMAA  VLLTKGCVD  KGCVDAWEPKVLR 

    RNMTL1 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_060616.1  
    ENSEMBL proteins: 
     ENSP00000306080   ENSP00000458328   ENSP00000460957  

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    Browse ProSpec Recombinant Proteins
    Uscn Proteins for RNMTL1

    Gene Ontology (GO): 1 cellular component term (GO ID links to tree view):    About this table

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


    RNMTL1 for ontologies           About GeneDecksing



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    Uscn ELISAs and CLIAs for RNMTL1


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

    RNMTL1 for domains           About GeneDecksing

    2 InterPro domains/families:
     IPR001537 SpoU_MeTrfase
     IPR013123 SpoU_subst-bd

    Graphical View of Domain Structure for InterPro Entry Q9HC36

    ProtoNet protein and cluster: Q9HC36

    1 Blocks protein family: IPB001537 tRNA/rRNA methyltransferase (SpoU)

    UniProtKB/Swiss-Prot: RMTL1_HUMAN, Q9HC36
    Similarity: Belongs to the RNA methyltransferase TrmH 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

    Function Summary:

         UniProtKB/Swiss-Prot: RMTL1_HUMAN, Q9HC36
    Function: Probable RNA methyltransferase (By similarity)

    Enzyme Numbers (IUBMB): EC 2.1.1.-1 EC 2.1.12

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    Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003723RNA binding IEA--
    GO:0008173RNA methyltransferase activity IEA--


    RNMTL1 for ontologies           About GeneDecksing


    2 GenomeRNAi human phenotypes for RNMTL1:
     Downregulation of NF-kappaB pa  Downregulation of NF-kappaB pa 


    (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 RNMTL1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 11)

    5/243 Interacting proteins for RNMTL1 (Q9HC361, 2, 3 ENSP000003060804) via UniProtKB, MINT, STRING, and/or I2D (see all 243)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    CUL2Q136171, 3, ENSP000003638804EBI-1045440,EBI-456179 I2D: score=2 STRING: ENSP00000363880
    NTHL1P785491, 3, ENSP000002190664EBI-1045440,EBI-1049350 I2D: score=2 STRING: ENSP00000219066
    PUF60Q9UHX11, 3, ENSP000003220164EBI-1045440,EBI-1053259 I2D: score=2 STRING: ENSP00000322016
    TRIP6Q156541, 3, ENSP000002004574EBI-1045440,EBI-742327 I2D: score=2 STRING: ENSP00000200457
    NUDT1P366391, 3, ENSP000003395034EBI-1045440,EBI-1048967 I2D: score=2 STRING: ENSP00000339503
    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:0006396RNA processing IEA--


    RNMTL1 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 RNMTL1
    Search CenterWatch for drugs/clinical trials and news about RNMTL1 / RMTL1 

    (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 RNMTL1 gene: 
    NM_018146.2  

    Unigene Cluster for RNMTL1:

    RNA methyltransferase like 1
    Hs.182729  [show with all ESTs]
    Unigene Representative Sequence: BM559404
    4 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000304478(uc002frw.3) ENST00000574916 ENST00000574509 ENST00000571157


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    2 QIAGEN miScript miRNA Assays for microRNAs that regulate RNMTL1:
    hsa-miR-612 hsa-miR-1285
    SwitchGear 3'UTR luciferase reporter plasmidRNMTL1 3' UTR sequence
    Inhib. RNA
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat RNMTL1
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    Additional cDNA sequence: 

    AF177344.2 AK001443.1 AK222900.1 AK225128.1 BC011550.1 BC050614.1 

    7 DOTS entries:

    DT.414899  DT.95154338  DT.100716834  DT.75156332  DT.100884745  DT.120918839  DT.100884764 

    24/135 AceView cDNA sequences (see all 135):

    BI767361 CR606252 CR610400 CR620136 CR598330 BI915279 CR626293 CR593905 
    BF223090 BC011550 CR591937 NM_018146 BM019700 BM465798 CR613251 BI909292 
    AA315930 CR590735 CA488414 CR610396 BU621472 CR606431 CF130226 AK001443 

    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

    RNMTL1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: GCGGCAAGCA

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

    About this image
    See RNMTL1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for RNMTL1

    SOURCE GeneReport for Unigene cluster: Hs.182729

    UniProtKB/Swiss-Prot: RMTL1_HUMAN, Q9HC36
    Tissue specificity: Expressed at same level in normal liver and hepatocarcinoma

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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for RNMTL1

    (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 last universal common ancestor (LUCA).

    Orthologs for RNMTL1 gene from 8/25 species (see all 25)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    chicken
    (Gallus gallus)
    Aves RNMTL11 RNA methyltransferase like 1 62.65(n)
    57.44(a)
      417620  XM_415864.3  XP_415864.2 
    lizard
    (Anolis carolinensis)
    Reptilia RNMTL16
    --
    56(a)
    1 ↔ 1
    GL344108.1(45588-50683)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia Str.106962 Transcribed sequence with weak similarity to protein more 76.92(n)    BX692556.1 
    zebrafish
    (Danio rerio)
    Actinopterygii Dr.149232 Transcribed sequence with weak similarity to protein more 73.44(n)    BM035786.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG141001 CG14100 45.62(n)
    35.75(a)
      40132  NM_140873.3  NP_649130.2 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons AT4G380206
    tRNA/rRNA methyltransferase (SpoU) family protein
    16(a)
    1 ↔ 1
    4(17861523-17863060)
    rice
    (Oryza sativa)
    Liliopsida --
    RNA methyltransferase, TrmH family protein, putati...
    17(a)
    1 ↔ 1
    3(27307326-27309228)
    E. coli
    (Escherichia coli)
    Gamma proteobacteria yfiF6
    predicted methyltransferase
    13(a)
    1 ↔ 1
    Chromosome(2715513-2716550)


    ENSEMBL Gene Tree for RNMTL1 (if available)
    TreeFam Gene Tree for RNMTL1 (if available) 

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for RNMTL1 gene

    RNMTL1 for paralogs           About GeneDecksing


    2 Pseudogenes.org Pseudogenes for RNMTL1
    PGOHUM00000238693 PGOHUM00000233140


    (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

    10/204 NCBI SNPs in RNMTL1 are shown (see all 204    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 17 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs561261381,2
    F,--687646(+) AATCCA/GCACGC 1 -- int11Minor allele frequency- G:0.08WA 118
    rs600095521,2
    C,--687684(+) TTTACC/TGTGCT 1 -- int12Minor allele frequency- T:0.03WA 120
    rs1843434071,2
    --687742(+) TGTGCC/TTGTCA 1 -- int10--------
    rs673493101,2
    C,F,--687811(+) GGCAGG/ATGTGC 1 -- int13Minor allele frequency- A:0.50NA 6
    rs1873698291,2
    --687821(+) CTTACA/GGTGGC 1 -- int10--------
    rs116555291,2
    C,F,H,--687843(+) GAACTT/CCATCA 1 -- int112Minor allele frequency- C:0.03NA NS EA 986
    rs1921986651,2
    --688002(+) GCCTCC/TGTATA 1 -- int10--------
    rs739755221,2
    C,--688050(+) AAGGAC/TTTCTA 1 -- int12Minor allele frequency- T:0.10WA 120
    rs1854219751,2
    --688085(+) TTTTGC/GCCATC 1 -- int10--------
    rs116544741,2
    C,F,H,--688134(+) CGCCTA/GATACC 1 -- int115Minor allele frequency- G:0.03NA NS EA 1564

    HapMap Linkage Disequilibrium report for RNMTL1 (685513 - 695749 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 5 variations for RNMTL1
         3 CNVs: 3136 8832 4021
         2 Indels: 25898 42843

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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

    RNMTL1 for disorders           About GeneDecksing

    OMIM gene information: 612600    OMIM disorders: --

    3 diseases for RNMTL1:    About MalaCards
    pneumonia    tuberculosis    mycobacterium tuberculosis

    Human Genome Epidemiology (HuGE) Navigator: RNMTL1 (1 document)

    Export disorders for RNMTL1 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 RNMTL1 gene, integrated from 9 sources (see all 17):
    (articles sorted by number of sources associating them with RNMTL1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. The ATF/CREB site is the key element for transcription of the human RNA methyltransferase like 1(RNMTL1) gene, a newly discovered 17p13.3 gene. (PubMed id 12296377)1, 2, 3, 9 Xu J.... Gu J.R. (2002)
    2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    3. A census of human soluble protein complexes. (PubMed id 22939629)1 Havugimana P.C....Emili A. (2012)
    4. Charting the landscape of tandem BRCT domain-mediated protein interactions. (PubMed id 22990118)1 Woods N.T....Monteiro A.N. (2012)
    5. Initial characterization of the human central proteome. (PubMed id 21269460)2 Burkard T.R.... Colinge J. (2011)
    6. 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)
    7. 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)
    8. Genetic variants in nuclear-encoded mitochondrial gen es influence AIDS progression. (PubMed id 20877624)1 Hendrickson S.L....O'Brien S.J. (2010)
    9. Dynamics of cullin-RING ubiquitin ligase network revea led by systematic quantitative proteomics. (PubMed id 21145461)1 Bennett E.J....Harper J.W. (2010)
    10. Defining the human deubiquitinating enzyme interactio n landscape. (PubMed id 19615732)1 Sowa M.E....Harper J.W. (2009)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     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)
    About This Section
    Entrez Gene: 55178 HGNC: 18485 AceView: FLJ10581 Ensembl:ENSG00000171861 euGenes: HUgn55178
    ECgene: RNMTL1 H-InvDB: RNMTL1

    (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 RNMTL1 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 RNMTL1 gene:
    Search GeneIP for patents involving RNMTL1

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



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    In Situ Hybridization Assays from
    Advanced Cell Diagnostics
    About This Section

     
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    GeneCards Homepage - Last full update: 18 Mar 2013 - Incrementals: 21 Mar 2013 , 15 Apr 2013 , 26 Apr 2013

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