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Mitochondrially Encoded 12S RNA(Previous name: 12S RNA)
(Previous symbol: MTRNR1)
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Aliases
for MT-RNR1 gene
(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 |
Export aliases for MT-RNR1 gene to outside databasesPrevious GC identifer: GC00U921594 |
Summaries
for MT-RNR1 gene(According to Entrez Gene,
GeneCards,
Tocris Bioscience,
Wikipedia's
Gene Wiki,
PharmGKB,
UniProtKB/Swiss-Prot,
and/or
UniProtKB/TrEMBL)
About This Section
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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.
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Genomic Views
for MT-RNR1 gene
(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)
About This Section
TryGeneCards Plus | Regulatory elements:
 Search for regulatory transcription factor binding sites for MT-RNR1
Other transcription factors
Search Chromatin IP Primers for MT-RNR1
Epigenetics:
| | DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat MT-RNR1 |
Genomic Location:
Chromosome:MT
Ensembl cytogenetic band: MT HGNC chromosome: mitochondriaGeneLoc information about chromosome MT GeneLoc Exon Structure GeneLoc location for GCMTP000651:
(about GC identifiers)
Start:
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648 bp from pter |
End:
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1,601 bp from pter |
Size:
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954 bases |
Orientation:
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plus strand |
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Proteins
for MT-RNR1 gene
(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, and/or
Cloud-Clone Corp.)
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UniProtKB: --
|
Domains /
Families
for MT-RNR1 gene(According to HGNC, IUPHAR, InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
TryGeneCards Plus | HGNC Gene Families:
RRNA: ncRNAs / Ribosomal RNA genes
-- |
Function
for MT-RNR1 gene
(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:
Inhib. RNA
Products: |  | Browse OriGene RNAi
| | | Predesigned siRNA for gene silencing in human, mouse, rat MT-RNR1 |
Cell Line
Products: |  | GenScript Custom overexpressing Cell Line Services for MT-RNR1 | |  | Browse ESI BIO Cell Lines and PureStem Progenitors for MT-RNR1  | In Situ Assay
Products: |
 | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MT-RNR1 |
Localization
for MT-RNR1 gene
(According to UniProtKB, COMPARTMENTS Subcellular localization database,
Ontologies according to Gene Ontology Consortium 01 Apr 2014 via
Entrez Gene.)
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Pathways & Interactions
for MT-RNR1 gene
(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
Pathways by source See SuperPaths
Show all pathways
2  Kegg Pathways (Kegg details for MT-RNR1):
MT-RNR1 for pathways About GeneDecksing
Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for MT-RNR1
Interactions:
Search GeneGlobe Interaction Network for MT-RNR1
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Drugs & Compounds
for MT-RNR1 gene(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)
About This Section
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 Browse compounds at ApexBio
 Browse Tocris compounds for MT-RNR1
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Transcripts
for MT-RNR1 gene(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,
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)
Inhib. RNA
Products: | | Browse OriGene RNAi
| |
| | Predesigned siRNA for gene silencing in human, mouse, rat MT-RNR1 |
GeneLoc Exon Structure
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Expression
for MT-RNR1 gene
(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: --
About this image MT-RNR1 Protein expression data from MOPED1, PaxDb2 and
MaxQB3: --
Custom PCR Arrays for MT-RNR1
Primer
Products: | | Browse OriGene qPCR
| | | Search Pre-validated RT2 qPCR
Primer Assays in human, mouse, rat MT-RNR1 | | | QuantiTect SYBR Green Assays in human, mouse, rat MT-RNR1 | | | QuantiFast Probe-based Assays in human, mouse, rat MT-RNR1 | In Situ
Assay Products: |
| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MT-RNR1 |
Orthologs
for MT-RNR1 gene
(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
for MT-RNR1 gene(Paralogs according to
1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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Genomic Variants
for MT-RNR1 gene(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)
About This Section
TryGeneCards Plus | Human Gene Mutation Database (HGMD): MT-RNR1
| | Site Specific Mutation Identification with PCR Assays |
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Disorders
/ Diseases
for MT-RNR1 gene
(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.)
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OMIM gene information: 561000
OMIM disorders: --
Selected  diseases for MT-RNR1 (see all 21):
About MalaCardsmt-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
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Publications
for MT-RNR1 gene (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 |
- [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)
- 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)
- 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)
- 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)
- 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)
- Mitochondrial genome polymorphisms associated with type-2 diabetes or obesity. (PubMed id 16060290)1, 4 Guo L.J....Tanaka M. (Mitochondrion 2005)
- 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)
- [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)
- Audiologic testing and molecular analysis of 12S rRNA in patients receiving aminoglycosides. (PubMed id 15805873)1, 4 GA1rtler N....Lalwani A.K. (Laryngoscope 2005)
- 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)
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External Searches for MT-RNR1 gene (in PubMed,
OMIM, and NCBI Bookshelf)
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Genome Databases showing MT-RNR1 gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
About This Section
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Other Databases showing MT-RNR1 gene
(According to HUGE)
About This Section
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Specialized Databases showing MT-RNR1 gene(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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| Name | Description |
| PharmGKB entry for MT-RNR1 | Pharmacogenomics, SNPs, Pathways |
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| | |
About This Section
TryGeneCards Plus | 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
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Products
for MT-RNR1 gene(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)
About This Section
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|  | Block miRNA regulation of human, mouse, rat MT-RNR1 using miScript Target Protectors | | SeqTarget long-range PCR primers for resequencing MT-RNR1 | | | DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat MT-RNR1 | | Predesigned siRNA for gene silencing in human, mouse, rat MT-RNR1 | | | QuantiFast Probe-based Assays in human, mouse, rat MT-RNR1 | | QuantiTect SYBR Green Assays in human, mouse, rat MT-RNR1 | | | Custom PCR Arrays for MT-RNR1 | | Search Chromatin IP Primers for MT-RNR1 | | | Search Pre-validated RT2 qPCR Primer Assays in human, mouse, rat MT-RNR1 | | Search GeneGlobe Interaction Network for MT-RNR1 | | | Search Regulatory tfbs for MT-RNR1 |
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| | | Search Tocris compounds for MT-RNR1 |
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 |  | | | | | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MT-RNR1 |
| |  |  |  |  | | | Search ThermoFisher Antibodies for MT-RNR1 |
| | | Search Vector BioLabs for ready-to-use adenovirus/AAV for human, mouse, rat MT-RNR1 |
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