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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

  • Mitochondrially Encoded 12S RNA 2 5
  • Mitochondrial Open Reading Frame Of The 12S RRNA-C 4
  • 12S RNA 2
  • MOTS-C 2
  • S-RRNA 3
  • MTRNR1 3
  • RNR1 3

External Ids for MT-RNR1 Gene

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, Mitochondrial, Modifier Of and Mitochondrial Non-Syndromic Sensorineural Deafness. Among its related pathways are Ribosome biogenesis in eukaryotes and Viral mRNA Translation.

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.

PharmGKB "VIP" Summary for MT-RNR1 Gene

Additional gene information for MT-RNR1 Gene

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

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

Genes around MT-RNR1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
GeneLoc Logo Gene Density

RefSeq DNA sequence for MT-RNR1 Gene

No data available for 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

neXtProt entry for MT-RNR1 Gene

Post-translational modifications for MT-RNR1 Gene

No Post-translational modifications

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

genes like me logo Genes that share domains with MT-RNR1: view

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.

Human Phenotype Ontology for MT-RNR1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

Clone Products

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

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for MT-RNR1 gene
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

genes like me logo Genes that share pathways with MT-RNR1: view

Pathways by source for MT-RNR1 Gene

2 KEGG pathways for MT-RNR1 Gene

Interacting Proteins for MT-RNR1 Gene

Gene Ontology (GO) - Biological Process for MT-RNR1 Gene

None

No data available for SIGNOR curated interactions for MT-RNR1 Gene

Drugs & Compounds for MT-RNR1 Gene

(7) Drugs for MT-RNR1 Gene - From: PharmGKB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Amikacin Approved, Vet_approved Pharma 69
Gentamicin Approved, Vet_approved Pharma 0
Kanamycin Approved, Vet_approved Pharma 11
Neomycin Approved, Vet_approved Pharma 52
Streptomycin Approved, Vet_approved Pharma 20
genes like me logo Genes that share compounds with MT-RNR1: view

Transcripts for MT-RNR1 Gene

mRNA/cDNA for MT-RNR1 Gene

(1) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for MT-RNR1 Gene

No ASD Table

Relevant External Links for MT-RNR1 Gene

GeneLoc Exon Structure for
MT-RNR1
ECgene alternative splicing isoforms for
MT-RNR1

Expression for MT-RNR1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE 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).
genes like me logo Genes that share expression patterns with MT-RNR1: view

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

Evolution for MT-RNR1 Gene

ENSEMBL:
Gene Tree for MT-RNR1 (if available)
TreeFam:
Gene Tree for MT-RNR1 (if available)

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

Sequence variations from dbSNP and Humsavar for MT-RNR1 Gene

SNP ID Clin Chr MT pos Sequence Context AA Info Type
rs113683159 -- 508(+) ATCCT(A/G)CCCAG upstream-variant-2KB
rs113913230 -- 183(+) ATTAC(A/G)GGCGA upstream-variant-2KB
rs117135796 -- 152(+) CATTC(C/T)ATTAT upstream-variant-2KB
rs117394573 -- 340(+) AAACA(C/T)ATCTC upstream-variant-2KB
rs144402189 -- 125(+) CGCAG(C/T)ATCTG upstream-variant-2KB

Relevant External Links for MT-RNR1 Gene

Human Gene Mutation Database (HGMD)
MT-RNR1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
MT-RNR1

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

MalaCards: The human disease database

(17) MalaCards diseases for MT-RNR1 Gene - From: HGMD, ClinVar, GeneTests, Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
deafness, mitochondrial, modifier of
  • deafness, streptomycin-induced
mitochondrial non-syndromic sensorineural deafness
  • isolated mitochondrial neurosensory deafness
mt-rnr1-related hearing loss and deafness
  • aminoglycoside ototoxicity
cloacal exstrophy
idiopathic bilateral vestibulopathy
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for MT-RNR1

Genetic Association Database (GAD)
MT-RNR1
genes like me logo Genes that share disorders with MT-RNR1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for MT-RNR1 Gene

Publications for MT-RNR1 Gene

  1. 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 60
  2. 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 60
  3. 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 60
  4. 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 60
  5. 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 45 60

Products for MT-RNR1 Gene

Sources for MT-RNR1 Gene

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