TRMT10C (tRNA methyltransferase 10C, mitochondrial RNase P subunit)

2014-11-01  

Identity

HGNC
TRMT10C
LOCATION
3q12.3
LOCUSID
54931
ALIAS
COXPD30,HNYA,MRPP1,RG9MTD1
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 54931
MIM: 615423
HGNC: 26022
Ensembl: ENSG00000174173

Variants:

dbSNP: 54931
ClinVar: 54931
TCGA: ENSG00000174173
COSMIC: TRMT10C

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000174173ENST00000309922Q7L0Y3
ENSG00000174173ENST00000495642C9JVB6

Expression (GTEx)

0
5
10
15
20
25
30
35
40
45
50
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
tRNA processingREACTOMER-HSA-72306
tRNA processing in the mitochondrionREACTOMER-HSA-6785470
tRNA modification in the mitochondrionREACTOMER-HSA-6787450
rRNA processingREACTOMER-HSA-72312
rRNA processing in the mitochondrionREACTOMER-HSA-8868766

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
218571552011RNA processing in human mitochondria.88
220283652011Long noncoding RNAs are generated from the mitochondrial genome and regulated by nuclear-encoded proteins.64
271325922016Recessive Mutations in TRMT10C Cause Defects in Mitochondrial RNA Processing and Multiple Respiratory Chain Deficiencies.19
208776242010Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.17
290407052017The MRPP1/MRPP2 complex is a tRNA-maturation platform in human mitochondria.7
298806402018Structural insight into the human mitochondrial tRNA purine N1-methyltransferase and ribonuclease P complexes.4
237552572013The amyloid-β-SDR5C1(ABAD) interaction does not mediate a specific inhibition of mitochondrial RNase P.1

Citation

Dessen P

TRMT10C (tRNA methyltransferase 10C, mitochondrial RNase P subunit)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/75195/trmt10c