Aliases for MT-RNR1 Gene

Subcategory (RNA class) for MT-RNR1 Gene

rRNA

Number of RNA Genes sources:

3 / 17

Aliases for MT-RNR1 Gene

  • Mitochondrially Encoded 12S RRNA 2 5
  • MT-RNR1 2 5
  • Mitochondrial Open-Reading-Frame Of The Twelve S RRNA Type-C 2
  • Mitochondrial Open Reading Frame Of The 12S RRNA-C 4
  • Mitochondrial-Derived Peptide MOTS-C 4
  • Mitochondrially Encoded 12S RNA 2
  • 12S RNA 2
  • 6NU3_AA 167
  • 3J9M_AA 167
  • RF00177 168
  • 6NU2_AA 167
  • S-RRNA 3
  • MTRNR1 3
  • MOTS-C 2
  • RNR1 3
  • 12S 2

External Ids for MT-RNR1 Gene

Previous HGNC Symbols for MT-RNR1 Gene

  • MTRNR1

Previous GeneCards Identifiers for MT-RNR1 Gene

  • GC00U921594
  • GCMTP000651

Summaries for MT-RNR1 Gene

GeneCards Summary for MT-RNR1 Gene

MT-RNR1 (Mitochondrially Encoded 12S RRNA) is an RNA Gene, and is affiliated with the rRNA 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 Summary 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

Rfam classification for MT-RNR1 Gene

  • Archaeal small subunit ribosomal RNA
  • Bacterial small subunit ribosomal RNA

Additional gene information for MT-RNR1 Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry 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:642-1,607
(GRCh38/hg38)
Size:
966 bases
Orientation:
Plus strand
chrMT:648-1,601
(GRCh37/hg19)
Size:
954 bases
Orientation:
Plus strand

Genomic View for MT-RNR1 Gene

Genes around MT-RNR1 on UCSC Golden Path with GeneCards custom track
MT-RNR1 in the GeneCards ncRNA compendium hub on the UCSC Golden Path

Cytogenetic band:
GeneLoc Logo Gene Density

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

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

No data available for Suggested Antigen Peptide Sequences , Graphical View of Domain Structure 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

CRISPR 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
nucleus 2
plasma membrane 1
extracellular 1
cytoskeleton 1
cytosol 1

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

PathCards logo

SuperPathways 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

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

None

No data available for Interacting Proteins and 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, Investigational, Vet_approved Pharma 91
Gentamicin Approved, Vet_approved Pharma 0
Kanamycin Approved, Investigational, Vet_approved Pharma 14
Neomycin Approved, Vet_approved Pharma 57
Streptomycin Approved, Vet_approved Pharma 26
genes like me logo Genes that share compounds with MT-RNR1: view

Transcripts for MT-RNR1 Gene

Non-coding RNA (ncRNA) Transcripts from RNAcentral for MT-RNR1 Gene

RNAcentral Transcript ID Subcategory Length (nts) # of Sources Source Identifiers and Annotations
URS000044DFF6_9606 rRNA 954 4

HGNC: 7470,

Ensembl: ENST00000389680 (view in UCSC) ,

PDBe: 3J9M_AA,

ENA: View 553 records in RNAcentral

URS000095A91A_9606 rRNA 965 1

Rfam: RF00177,

URS0000041FAB_9606 rRNA 954 1

ENA: HM596715.1:647..1600:rRNA,

URS0000093F9C_9606 rRNA 954 1

ENA: JQ044803.1:648..1601:rRNA,

URS00000E3743_9606 rRNA 954 1

ENA: View 9 records in RNAcentral

MT-RNR1 in the GeneCards ncRNA compendium hub on the UCSC Golden Path

CRISPR 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

No data available for mRNA/cDNA for MT-RNR1 Gene

Expression for MT-RNR1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and 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, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for MT-RNR1 Gene

SNP ID Clinical significance and condition Chr MT pos Variation AA Info Type
666715 Likely Benign: not specified 1,313(+) A/G
667034 Uncertain Significance: not specified 1,106(+) C/T
667050 Benign: not specified 1,303(+) G/A
667265 Uncertain Significance: not specified 1,377(+) C/A
805058 Uncertain Significance: not provided 1,257(+) T/C

Additional Variant Information 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 , Additional dbSNP identifiers (rs#s) , 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

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

Disorder Aliases PubMed IDs
deafness, aminoglycoside-induced
  • deafness, streptomycin-induced
deafness, nonsyndromic sensorineural, mitochondrial
  • mitochondrial nonsyndromic sensorineural deafness
auditory neuropathy spectrum disorder
  • ansd
restrictive cardiomyopathy
  • rcm
cloacal exstrophy
  • oeis complex
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for MT-RNR1

Genetic Association Database
(GAD)
Open Targets Platform
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
  2. Novel mutations affecting the secondary structure of MT-RNR1 gene: a causal relationship with profound nonsyndromic hearing impairment. (PMID: 22852811) Padma G … Padma T (Genetic testing and molecular biomarkers 2012) 2 3
  3. 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 23
  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 23
  5. 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 23

Products for MT-RNR1 Gene

Sources for MT-RNR1 Gene