MRM3 (mitochondrial rRNA methyltransferase 3)

2001-01-01  

Identity

HGNC
MRM3
LOCATION
17p13.3
LOCUSID
55178
ALIAS
RMTL1,RNMTL1

Other Information

Locus ID:

NCBI: 55178
MIM: 612600
HGNC: 18485
Ensembl: ENSG00000171861

Variants:

dbSNP: 55178
ClinVar: 55178
TCGA: ENSG00000171861
COSMIC: MRM3

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000171861ENST00000304478Q9HC36
ENSG00000171861ENST00000571157I3L443
ENSG00000171861ENST00000574509I3L0T6

Expression (GTEx)

0
10
20
30
40
50
60
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Pathways

PathwaySourceExternal ID
Gene ExpressionREACTOMER-HSA-74160
rRNA processingREACTOMER-HSA-72312
rRNA processing in the mitochondrionREACTOMER-HSA-8868766
rRNA modification in the mitochondrionREACTOMER-HSA-6793080

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
250092822014MRM2 and MRM3 are involved in biogenesis of the large subunit of the mitochondrial ribosome.35
250749362014Assignment of 2'-O-methyltransferases to modification sites on the mammalian mitochondrial large subunit 16 S ribosomal RNA (rRNA).19
208776242010Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.17
122963772002The ATF/CREB site is the key element for transcription of the human RNA methyltransferase like 1(RNMTL1) gene, a newly discovered 17p13.3 gene.6

Citation

Dessen P

MRM3 (mitochondrial rRNA methyltransferase 3)

Atlas Genet Cytogenet Oncol Haematol. 2001-01-01

Online version: http://atlasgeneticsoncology.org/gene/78470/mrm3