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MT-RNR1 Gene

RNA gene   GIFtS: 21
GCID: GCMTP000651

Mitochondrially Encoded 12S RNA

(Previous name: 12S RNA)
(Previous symbol: MTRNR1)
  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)
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Subcategory (RNA class): Mt_rRNA

Quality score for this RNA gene is 3

Aliases
Mitochondrially Encoded 12S RNA1
MTRNR11 2
12S RNA1
RNR12
s-rRNA2

External Ids:    HGNC: 74701   Entrez Gene: 45492   Ensembl: ENSG000002114597   OMIM: 5610005   

Export aliases for MT-RNR1 gene to outside databases

Previous GC identifer: GC00U921594


(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 MT-RNR1 Gene:
MT-RNR1 (mitochondrially encoded 12S RNA) is an RNA gene, and is affiliated with the Mt_rRNA class. Diseases associated with MT-RNR1 include mt-rnr1-related hearing loss and deafness, and myelocystocele.


(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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Regulatory elements:
   Search for regulatory transcription factor binding sites for MT-RNR1
         Other transcription factors

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Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat MT-RNR1


Genomic Location:
Chromosome:MT   

Ensembl cytogenetic band:  MT   HGNC chromosome: mitochondria

GeneLoc information about chromosome MT         GeneLoc Exon Structure

GeneLoc location for GCMTP000651:       (about GC identifiers)

Start:
648 bp from pter      End:
1,601 bp from pter
Size:
954 bases      Orientation:
plus strand

(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, 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., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB: --


(According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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HGNC Gene Families:
RRNA: ncRNAs / Ribosomal RNA genes

  --

(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,
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, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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Animal Models:
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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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  --

(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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SuperPaths for MT-RNR1 About    
See pathways by source

SuperPathContained pathways About
1CFTR translational fidelity class I mutations
Ribosome0.54
2Ribosome biogenesis in eukaryotes
Ribosome biogenesis in eukaryotes

Pathways by source                                                                                                                                                                 See SuperPaths
Show all pathways



2 Kegg Pathways  (Kegg details for MT-RNR1):
    Ribosome biogenesis in eukaryotes
Ribosome


MT-RNR1 for pathways           About GeneDecksing

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Interactions:

    Search GeneGlobe Interaction Network for MT-RNR1

(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
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Browse Tocris compounds for MT-RNR1



(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, Primers from OriGene, and/or QIAGEN )
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1 Ensembl transcript including schematic representation, and UCSC links where relevant:
ENST00000389680(Mt_rRNA)
miRNA
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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™, 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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Expression evidence for MT-RNR1:none

MT-RNR1 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>2/3
CGAP TAG: --
MT-RNR1 Expression
About this image

MT-RNR1 Protein expression data from MOPED1, PaxDb2 and MaxQB3 --
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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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  --

ENSEMBL Gene Tree for MT-RNR1 (if available)
TreeFam Gene Tree for MT-RNR1 (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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Human Gene Mutation Database (HGMD): MT-RNR1
Site Specific Mutation Identification with PCR Assays
Search QIAGEN SeqTarget long-range PCR primers for resequencing MT-RNR1
DNA2.0 Custom Variant and Variant Library Synthesis for MT-RNR1

(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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OMIM gene information: 561000    OMIM disorders: --

Selected diseases for MT-RNR1 (see all 21):    
About MalaCards
mt-rnr1-related hearing loss and deafness    myelocystocele    cloacal exstrophy    idiopathic bilateral vestibulopathy
nonsyndromic hearing loss and deafness, mitochondrial    congenital cytomegalovirus    deafness and hereditary hearing loss    dgke-related atypical hemolytic-uremic syndrome
cytomegalovirus infection    sensorineural hearing loss    deafness, mitochondrial, modifier of    nonsyndromic hearing loss and deafness
merrf syndrome    mitochondrial disorders    ophthalmoplegia    myopathy
obesity    diabetes mellitus    colorectal cancer    prostate cancer


MT-RNR1 for disorders           About GeneDecksing

GeneTests: MT-RNR1
GeneReviews: MT-RNR1
Genetic Association Database (GAD): MT-RNR1

Export disorders for MT-RNR1 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 MT-RNR1 gene, integrated from 10 sources (see all 81):
(articles sorted by number of sources associating them with MT-RNR1)
    Utopia: connect your pdf to the dynamic
world of online information

  1. [Screening of the mitochondrial 12S rRNA (MTRNR1) gene in probands with sensorineural hearing loss]. (PubMed id 17527057)1, 4 CirAsir Y.E....Tekin M. (Kulak Burun Bogaz Ihtis Derg 2007)
  2. Mutations in GJB2, GJB6, and mitochondrial DNA are rare in African American and Caribbean Hispanic individuals with hearing impairment. (PubMed id 17357124)1, 4 Samanich J....Morrow B.E. (Am. J. Med. Genet. A 2007)
  3. Mutational analysis of the mitochondrial 12S rRNA and tRNASer(UCN) genes in Tunisian patients with nonsyndromic hearing loss. (PubMed id 16406239)1, 4 Mkaouar-Rebai E....Fakhfakh F. (Biochem. Biophys. Res. Commun. 2006)
  4. Prevalence of the A1555G (12S rRNA) and tRNASer(UCN) mitochondrial mutations in hearing-impaired Brazilian patients. (PubMed id 16470309)1, 4 Abreu-Silva R.S....Mingroni-Netto R.C. (Braz. J. Med. Biol. Res. 2006)
  5. Variation of mitochondrial gene and the association with type 2 diabetes mellitus in a Chinese population. (PubMed id 16414144)1, 4 Tang D.L....Liu F. (Diabetes Res. Clin. Pract. 2006)
  6. Mitochondrial genome polymorphisms associated with type-2 diabetes or obesity. (PubMed id 16060290)1, 4 Guo L.J....Tanaka M. (Mitochondrion 2005)
  7. Mutational analysis of the mitochondrial 12S rRNA gene in Chinese pediatric subjects with aminoglycoside-induced and non-syndromic hearing loss. (PubMed id 15841390)1, 4 Li Z....Guan M.X. (Hum. Genet. 2005)
  8. [Mutation of mitochondrial 12S rRNA in gastric carcinomas and its significance]. (PubMed id 15996314)1, 4 Han C.B....Wu D.Y. (Zhonghua Zhong Liu Za Zhi 2005)
  9. Audiologic testing and molecular analysis of 12S rRNA in patients receiving aminoglycosides. (PubMed id 15805873)1, 4 GA1rtler N....Lalwani A.K. (Laryngoscope 2005)
  10. Genetic features, clinical phenotypes, and prevalence of sensorineural hearing loss associated with the 961delT mitochondrial mutation. (PubMed id 15917167)1, 4 Kobayashi K....Usami S. (Auris Nasus Larynx 2005)

(in PubMed, OMIM, and NCBI Bookshelf)
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 ANDOR
Aliases
Disorders
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: 4549 HGNC: 7470 Ensembl:ENSG00000211459 euGenes: HUgn4549 ECgene: MT-RNR1 Kegg: 4549
H-InvDB: MT-RNR1

(According to HUGE)
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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)
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NameDescription
PharmGKB entry for MT-RNR1 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 MT-RNR1 gene:
Search GeneIP for patents involving MT-RNR1

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, LSBio, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, and ESI BIO, 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 inGenious Targeting Laboratory, genOway)
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