GTPBP3 (GTP binding protein 3, mitochondrial)

2019-04-01 Affiliation

Identity

HGNC

GTPBP3

LOCATION

19p13.11

LOCUSID

84705

ALIAS

COXPD23,GTPBG3,MSS1,MTGP1,THDF1

Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool

Other Information

Locus ID:

NCBI: 84705
MIM: 608536
HGNC: 14880
Ensembl: ENSG00000130299

Variants:

dbSNP: 84705
ClinVar: 84705
TCGA: ENSG00000130299
COSMIC: GTPBP3

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000130299	ENST00000324894	Q969Y2
ENSG00000130299	ENST00000358792	Q969Y2
ENSG00000130299	ENST00000361619	Q969Y2
ENSG00000130299	ENST00000594018	M0R0S9
ENSG00000130299	ENST00000598493	M0R1X0
ENSG00000130299	ENST00000600610	M0QXA1
ENSG00000130299	ENST00000600625	Q969Y2
ENSG00000130299	ENST00000601213	M0R161
ENSG00000130299	ENST00000602165	M0QYW1

Expression (GTEx)

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

Pathway	Source	External ID
Gene Expression	REACTOME	R-HSA-74160
tRNA processing	REACTOME	R-HSA-72306
tRNA modification in the mitochondrion	REACTOME	R-HSA-6787450

Protein levels (Protein atlas)

Not detected

Low

Medium

High

References

Pubmed ID	Year	Title	Citations
25434004	2014	Mutations in GTPBP3 cause a mitochondrial translation defect associated with hypertrophic cardiomyopathy, lactic acidosis, and encephalopathy.	41
12370316	2002	A human mitochondrial GTP binding protein related to tRNA modification may modulate phenotypic expression of the deafness-associated mitochondrial 12S rRNA mutation.	40
18852288	2008	Characterization of human GTPBP3, a GTP-binding protein involved in mitochondrial tRNA modification.	24
15542390	2004	Phenotype of non-syndromic deafness associated with the mitochondrial A1555G mutation is modulated by mitochondrial RNA modifying enzymes MTO1 and GTPBP3.	22
25149473	2015	The ROS-sensitive microRNA-9/9* controls the expression of mitochondrial tRNA-modifying enzymes and is involved in the molecular mechanism of MELAS syndrome.	19
20877624	2010	Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.	17
26642043	2015	Defective Expression of the Mitochondrial-tRNA Modifying Enzyme GTPBP3 Triggers AMPK-Mediated Adaptive Responses Involving Complex I Assembly Factors, Uncoupling Protein 2, and the Mitochondrial Pyruvate Carrier.	10
19209188	2009	Genetic association analysis of 13 nuclear-encoded mitochondrial candidate genes with type II diabetes mellitus: the DAMAGE study.	4
29348686	2018	Defects in the mitochondrial-tRNA modification enzymes MTO1 and GTPBP3 promote different metabolic reprogramming through a HIF-PPARγ-UCP2-AMPK axis.	3
28740091	2017	microRNA-mediated differential expression of TRMU, GTPBP3 and MTO1 in cell models of mitochondrial-DNA diseases.	0

Citation

Dessen P

GTPBP3 (GTP binding protein 3, mitochondrial)

Atlas Genet Cytogenet Oncol Haematol. 2019-04-01

Online version: http://atlasgeneticsoncology.org/gene/57824/gtpbp3