Aliases for MT-RNR1 Gene
Subcategory (RNA class) for MT-RNR1 Gene
non-coding RNA
Quality Score for this RNA gene is
3
Aliases for MT-RNR1 Gene
External Ids for MT-RNR1 Gene
- HGNC: 7470
- Entrez Gene: 4549
- Ensembl: ENSG00000211459
- UniProtKB: A0A0C5B5G6
Previous HGNC Symbols for MT-RNR1 Gene
- MTRNR1
Previous GeneCards Identifiers for MT-RNR1 Gene
- GC00U921594
Summaries for MT-RNR1 Gene
GeneCards Summary for MT-RNR1 Gene
MT-RNR1 (Mitochondrially Encoded 12S RNA) is an RNA Gene, and is affiliated with the non-coding RNA class. Diseases associated with MT-RNR1 include Deafness, Aminoglycoside-Induced and Deafness, Nonsyndromic Sensorineural, Mitochondrial. Among its related pathways are Viral mRNA Translation and Ribosome biogenesis in eukaryotes.
UniProtKB/Swiss-Prot for MT-RNR1 Gene
-
Regulates insulin sensitivity and metabolic homeostasis. Inhibits the folate cycle, thereby reducing de novo purine biosynthesis which leads to the accumulation of the de novo purine synthesis intermediate 5-aminoimidazole-4-carboxamide (AICAR) and the activation of the metabolic regulator 5-AMP-activated protein kinase (AMPK). Protects against age-dependent and diet-induced insulin resistance as well as diet-induced obesity.
Additional gene information for MT-RNR1 Gene
- Monarch Initiative
- Search for MT-RNR1 at DataMed
- Search for MT-RNR1 at HumanCyc
No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , Gene Wiki entry , fRNAdb sequence ontologies and piRNA Summary for MT-RNR1 Gene
Genomics for MT-RNR1 Gene
Regulatory Element Products
Genomic Locations for MT-RNR1 Gene
Genomic Locations for MT-RNR1 Gene
- chrMT:648-1,601
- (GRCh38/hg38)
- Size:
- 954 bases
- Orientation:
- Plus strand
- chrMT:648-1,601
- (GRCh37/hg19)
Genomic View for MT-RNR1 Gene
RefSeq DNA sequence for MT-RNR1 Gene
No data available for GeneHancer (GH) Regulatory Elements for MT-RNR1 Gene
Proteins for MT-RNR1 Gene
-
Protein details for MT-RNR1 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- A0A0C5B5G6-MOTSC_HUMAN
- Recommended name:
- Mitochondrial-derived peptide MOTS-c
- Protein Accession:
- A0A0C5B5G6
Protein attributes for MT-RNR1 Gene
- Size:
- 16 amino acids
- Molecular mass:
- 2175 Da
- Quaternary structure:
- No Data Available
Post-translational modifications for MT-RNR1 Gene
No Post-translational modifications
Antibody Products
-
Cloud-Clone Corp. Antibodies for MT-RNR1
- Search GeneTex for Antibodies for MT-RNR1
Protein Products
- Search Origene for Purified Proteins, MassSpec and Protein Over-expression Lysates for MT-RNR1
- Origene Custom Protein Services for MT-RNR1
-
Cloud-Clone Corp. Proteins for MT-RNR1
- Search GeneTex for Proteins for MT-RNR1
Assay Products
-
Cloud-Clone Corp. Assay Kits for MT-RNR1
No data available for DME Specific Peptides for MT-RNR1 Gene
Domains & Families for MT-RNR1 Gene
Gene Families for MT-RNR1 Gene
Protein Domains for MT-RNR1 Gene
- ProtoNet:
Graphical View of Domain Structure for InterPro Entry
No data available for Suggested Antigen Peptide Sequences and UniProtKB/Swiss-Prot for MT-RNR1 Gene
Function for MT-RNR1 Gene
Molecular function for MT-RNR1 Gene
- UniProtKB/Swiss-Prot Function:
- Regulates insulin sensitivity and metabolic homeostasis. Inhibits the folate cycle, thereby reducing de novo purine biosynthesis which leads to the accumulation of the de novo purine synthesis intermediate 5-aminoimidazole-4-carboxamide (AICAR) and the activation of the metabolic regulator 5-AMP-activated protein kinase (AMPK). Protects against age-dependent and diet-induced insulin resistance as well as diet-induced obesity.
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
- Cyagen custom Knockout/knockin (KOKI) mouse models for MT-RNR1
-
- Search ViGene Biosciences for MT-RNR1
CRISPR Products
- Browse CRISPR knockouts for MT-RNR1
- Applied Biological Materials CRISPR for MT-RNR1
-
Vectors and viruses for KO, Activation, Repression, and more
miRNA Products
- Search ViGene Biosciences for MT-RNR1
Inhibitory RNA Products
- Search ViGene Biosciences for MT-RNR1
Clone Products
- GenScript: Custom all cDNA clones Services for MT-RNR1
- VectorBuilder custom plasmid, inducible vectors for MT-RNR1
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for MT-RNR1
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- Applied Biological Materials Clones for MT-RNR1
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Gene Ontology (GO) - Molecular Function , Phenotypes , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for MT-RNR1 Gene
Localization for MT-RNR1 Gene
Subcellular locations from UniProtKB/Swiss-Prot for MT-RNR1 Gene
- Secreted.
| Compartment | Confidence |
|---|---|
| mitochondrion | 2 |
No data available for Subcellular locations from the Human Protein Atlas (HPA) and Gene Ontology (GO) - Cellular Components for MT-RNR1 Gene
Pathways & Interactions for MT-RNR1 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Viral mRNA Translation |
.55
|
|
| 2 | Ribosome biogenesis in eukaryotes | ||
Pathways by source for MT-RNR1 Gene
2 KEGG pathways for MT-RNR1 Gene
Interacting Proteins for MT-RNR1 Gene
No data available for SIGNOR curated interactions for MT-RNR1 Gene
Drugs & Compounds for MT-RNR1 Gene
| Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
|---|---|---|---|---|---|---|
| Amikacin | Approved, Investigational, Vet_approved | Pharma | 70 | |||
| Gentamicin | Approved, Vet_approved | Pharma | 0 | |||
| Kanamycin | Approved, Investigational, Vet_approved | Pharma | 11 | |||
| Neomycin | Approved, Vet_approved | Pharma | 53 | |||
| Streptomycin | Approved, Vet_approved | Pharma | 20 |
Transcripts for MT-RNR1 Gene
mRNA/cDNA for MT-RNR1 Gene
- (1) Ensembl transcripts including schematic representations, and UCSC links where relevant :
CRISPR Products
- Browse CRISPR knockouts for MT-RNR1
- Applied Biological Materials CRISPR for MT-RNR1
-
Vectors and viruses for KO, Activation, Repression, and more
miRNA Products
- Search ViGene Biosciences for MT-RNR1
Inhibitory RNA Products
- Search ViGene Biosciences for MT-RNR1
Clone Products
- GenScript: Custom all cDNA clones Services for MT-RNR1
- VectorBuilder custom plasmid, inducible vectors for MT-RNR1
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for MT-RNR1
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- Applied Biological Materials Clones for MT-RNR1
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
Expression for MT-RNR1 Gene
mRNA differential expression in normal tissues according to GTEx for MT-RNR1 Gene
This gene is overexpressed in Brain - Putamen (basal ganglia) (x4.7) and Brain - Amygdala (x4.1).
mRNA Expression by UniProt/SwissProt for MT-RNR1 Gene:
A0A0C5B5G6-MOTSC_HUMAN
Tissue specificity:
Detected in plasma (at protein level).
Primer Products
No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for MT-RNR1 Gene
Orthologs for MT-RNR1 Gene
No data available for Orthologs for MT-RNR1 Gene
Paralogs for MT-RNR1 Gene
No data available for Paralogs for MT-RNR1 Gene
Variants for MT-RNR1 Gene
| SNP ID | Clin | Chr MT pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| VAR_075685 | -- | p.Lys14Gln |
Additional Variant Information for MT-RNR1 Gene
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot , Structural Variations from Database of Genomic Variants (DGV) and Variation tolerance for MT-RNR1 Gene
Disorders for MT-RNR1 Gene
(20) MalaCards diseases for MT-RNR1 Gene - From: HGMD, ClinVar, GTR, Orphanet, DISEASES, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| deafness, aminoglycoside-induced |
|
|
| deafness, nonsyndromic sensorineural, mitochondrial |
|
|
| mitochondrial non-syndromic sensorineural deafness |
|
|
| hereditary hearing loss and deafness |
|
|
| auditory neuropathy spectrum disorder |
|
|
Search MT-RNR1 in MalaCards
View complete list of genes associated with diseases
Additional Disease Information for MT-RNR1
- Genetic Association Database
- (GAD)
No data available for UniProtKB/Swiss-Prot and Genatlas for MT-RNR1 Gene
Publications for MT-RNR1 Gene
- The mitochondrial-derived peptide MOTS-c promotes metabolic homeostasis and reduces obesity and insulin resistance. (PMID: 25738459) Lee C … Cohen P (Cell metabolism 2015) 2 4 58
- Extensive and rapid screening for major mitochondrial DNA point mutations in patients with hereditary hearing loss. (PMID: 20111055) Kato T … Tanaka M (Journal of human genetics 2010) 3 22 58
- Study of modifiers factors associated to mitochondrial mutations in individuals with hearing impairment. (PMID: 19338775) de Moraes VC … Sartorato EL (Biochemical and biophysical research communications 2009) 3 22 58
- A rapid method for detection of five known mutations associated with aminoglycoside-induced deafness. (PMID: 19144107) Bardien S … de Jong G (BMC medical genetics 2009) 3 22 58
- Mutations in GJB2, GJB6, and mitochondrial DNA are rare in African American and Caribbean Hispanic individuals with hearing impairment. (PMID: 17357124) Samanich J … Morrow BE (American journal of medical genetics. Part A 2007) 3 44 58
Products for MT-RNR1 Gene
- Browse R&D Systems for Antibodies
- Browse R&D Systems for Human Recombinant Proteins
- Browse R&D Systems for biochemical assays
- Browse Primary Antibodies
- Browse Proteins and Enzymes
- Browse ELISAs
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- Browse Cell Selection and Detection Kits
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- Custom Antibody Services
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- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
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- Sino Biological Transfection Reagent
- Sino Biological Anti-His Tag Antibody
- Novus Biologicals
- Novus Biologicals Tissue Microarrays
- Cloud-Clone Corp. Antibodies for MT-RNR1
- Cloud-Clone Corp. Proteins for MT-RNR1
- Cloud-Clone Corp. Assay Kits for MT-RNR1
- Browse Knockouts at Cloud-Clone Corp.
- Browse Knockins at Cloud-Clone Corp.
- Cloud-Clone Corp. disease models service
- Browse cDNA clones at Cloud-Clone Corp.
- Browse primers at Cloud-Clone Corp.
- Cloud-Clone Corp. primary cells service
- Cyagen custom Knockout/knockin (KOKI) mouse models for MT-RNR1
- VectorBuilder custom plasmid, inducible vectors for MT-RNR1
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for MT-RNR1
- VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- Search GeneTex for Antibodies for MT-RNR1
- Search GeneTex for Proteins for MT-RNR1
Sources for MT-RNR1 Gene
- (1) GeneCards
- (2) HGNC
- (3) EntrezGene
- (4) Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) GO
- (12) TrEMBL
- (13) InterPro
- (14) ProtoNet
- (15) Blocks
- (16) MGI
- (17) IUBMB
- (18) KEGG
- (19) MINT
- (20) STRING
- (21) IntAct
- (22) Novoseek
- (23) PharmGKB
- (24) DrugBank
- (25) HMDB
- (26) UniGene
- (27) AceView
- (28) ASD
- (29) ECgene
- (30) GeneAnnot
- (31) CGAP SAGE
- (32) SOURCE
- (33) HomoloGene
- (34) PanEnsembl
- (35) euGenes
- (36) SGD
- (37) FlyBase
- (38) WormBase
- (39) Pseudogene
- (40) DGV
- (41) dbSNP
- (42) GenAtlas
- (43) HGMD
- (44) GAD
- (45) BGMUT
- (46) HuGE
- (47) Atlas
- (48) Cell Signaling Technology
- (49) GenBank
- (50) H-invDB
- (51) HORDE
- (52) HUGE
- (53) IMGT
- (54) Leiden
- (55) miRBase
- (56) DME
- (57) OriGene
- (58) PubMed
- (59) R&D Systems
- (60) TGDB
- (61) Tocris
- (62) Abcam
- (63) Novus Biologicals
- (64) ProSpec
- (65) Sino Biological
- (66) GenScript
- (67) Qiagen
- (68) Cloud-Clone Corp.
- (69) OCA
- (70) Proteopedia
- (71) MOPED
- (72) neXtProt
- (73) Reactome
- (74) GeneGo (Thomson Reuters)
- (75) fRNAdb
- (76) DISEASES
- (77) SIMAP
- (78) GenomeRNAi
- (79) LifeMap
- (80) miRTarBase
- (81) MalaCards
- (82) Invitrogen
- (83) BitterDB
- (84) Vector BioLabs
- (85) ESI-BIO
- (86) RefSeq
- (87) BioSystems
- (88) MaxQB
- (89) IUPHAR
- (90) BioGPS
- (91) Illumina
- (92) COMPARTMENTS
- (93) HOMER
- (94) PaxDb
- (95) ApexBio
- (96) Addgene
- (97) antibodies-online
- (98) CYP
- (99) NONCODE
- (100) SwitchGear Genomics
- (101) TreeFam
- (102) PathCards
- (103) GeneReviews
- (104) GeneTex
- (105) Taconic Biosciences
- (106) GTEx
- (107) ProteomicsDB
- (108) SCBT
- (109) DGIdb
- (110) ClinicalTrials
- (111) FDA Approved Drugs
- (112) RVIS
- (113) SIGNOR
- (114) diseasecard
- (115) NIH Rare Diseases
- (116) Orphanet
- (117) UMLS
- (118) GTR
- (119) Disease Ontology
- (120) Genetics Home Reference
- (121) MeSH
- (122) MedlinePlus
- (123) CDC
- (124) NINDS
- (125) NCBI Bookshelf
- (126) ClinVar
- (127) Gene Damage Index
- (128) ViGene Biosciences
- (129) HPO
- (130) UDN
- (131) VISTA
- (132) FANTOM5
- (133) ENCODE
- (134) ProSci
- (135) Horizon
- (136) NURSA
- (137) IID
- (138) Cyagen
- (139) VectorBuilder
- (140) SNPedia
- (141) BRCA Exchange
- (142) St John's Lab
- (143) CIViC
- (144) ProteoGenix
- (145) dbSUPER
- (146) TISSUES
- (147) Gene ORGANizer
- (148) abm
- (149) CrownBio
- (150) Human Protein Atlas
- (151) GWAS Catalog
- (152) Monarch Initiative
- (153) DataMed
- (154) HumanCyc
- (155) genomics-online
- (156) UCNEbase
- (157) EPDnew