MT-RNR1

Chr mitochondria

mitochondrially encoded 12S rRNA

Aliases:: 12S, MOTS-c

OMIM: 561000 ↗NCBI: 4549 ↗Ensembl ↗

Annotations refreshed 10 hours ago.

Predicted protein structure

AlphaFold predicted structure

MT-RNR1 · A0A0C5B5G6

v62025-08-01

Predicted Aligned Error matrix for MT-RNR1 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

72.1/ 100

Confident

16 residues

Confidence breakdown

Very high(≥ 90)0%
Confident(70–90)63%
Low(50–70)38%
Very low(< 50)0%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Hereditary neuropathy
MITOCHONDRIAL
Likely inborn error of metabolism
MITOCHONDRIAL
Mitochondrial disorders
MITOCHONDRIAL
Monogenic hearing loss
MITOCHONDRIAL
Undiagnosed metabolic disorders
MITOCHONDRIAL
Hereditary neuropathy or pain disorder
MITOCHONDRIAL
Childhood onset dystonia, chorea or related movement disorder
MITOCHONDRIAL

Disease associations (Open Targets)

Mitochondrial non-syndromic sensorineural deafness
0.62
deafness, aminoglycoside-induced
0.53
Mitochondrial non-syndromic sensorineural deafness with susceptibility to aminoglycoside exposure
0.53
auditory neuropathy
0.50
restrictive cardiomyopathy
0.50
hearing loss disorder
0.38
inborn mitochondrial metabolism disorder
0.37
mitochondrial disease
0.37
fetal growth restriction
0.05
neoplasm
0.05

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Mitochondrial-derived peptide MOTS-c

Regulates insulin sensitivity and metabolic homeostasis (PubMed:25738459, PubMed:33468709). 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) (PubMed:25738459). Protects against age-dependent and diet-induced insulin resistance as well as diet-induced obesity (PubMed:25738459). In response to metabolic stress, translocates to the nucleus where it binds to antioxidant response elements (ARE) present in the promoter regions of a number of genes and plays a role in regulating nuclear gene expression in an NFE2L2-dependent manner and increasing cellular resistance to metabolic stress (PubMed:29983246). Increases mitochondrial respiration and levels of CPT1A and cytokines IL1B, IL6, IL8, IL10 and TNF in senescent cells (PubMed:29886458). Increases activity of the serine/threonine protein kinase complex mTORC2 and reduces activity of the PTEN phosphatase, thus promoting phosphorylation of AKT (PubMed:33554779). This promotes AKT-mediated phosphorylation of transcription factor FOXO1 which reduces FOXO1 activity, leading to reduced levels of MSTN and promotion of skeletal muscle growth (PubMed:33554779). Promotes osteogenic differentiation of bone marrow mesenchymal stem cells via the TGFB/SMAD pathway (PubMed:30468456). Promotes osteoblast proliferation and osteoblast synthesis of type I collagens COL1A1 and COL1A2 via the TGFB/SMAD pathway (PubMed:31081069)