GTPBP3 - GTP binding protein 3, mitochondrial Gene

Homo sapiens

Also known as MSS1; MTGP1; THDF1; GTPBG3; COXPD23

Gene ID: 84705 | Gene type: protein coding

About GTPBP3

Cytogenetic location: 19p13.11 Genomic coordinates (GRCh38): 19:17,334,982-17,342,731 (from NCBI)

This gene has 28 transcripts (splice variants), 184 orthologues, 1 paralogue and is associated with 3 phenotypes. Ubiquitous expression in spleen (RPKM 3.4), skin (RPKM 3.3) and 25 other tissues.

Summary

This locus encodes a GTP-binding protein. The encoded protein is localized to the mitochondria and may play a role in mitochondrial tRNA modification. Polymorphisms at this locus may be associated with severity of aminoglycoside-induced deafness, a disease associated with a mutation in the 12S rRNA. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Sep 2010]

GTPBP3 Products(4)

mRNA	Protein	Name
NM_001128855.3	NP_001122327.1	tRNA modification GTPase GTPBP3, mitochondrial isoform III
NM_001195422.1	NP_001182351.1	tRNA modification GTPase GTPBP3, mitochondrial isoform VII
NM_032620.4	NP_116009.2	tRNA modification GTPase GTPBP3, mitochondrial isoform V
NM_133644.4	NP_598399.2	tRNA modification GTPase GTPBP3, mitochondrial isoform IV

GTPBP3 Protein Structure

TrmE_N

MMR_HSR1

MnmE_helical

0
100
200
300
400
492 a.a.

Protein Preferred Names

Protein Names

tRNA modification GTPase GTPBP3, mitochondrial

mitochondrial GTP-binding protein 1

Related Diseases

Diseases

Alias

Combined Oxidative Phosphorylation Deficiency 23

COXPD23	Combined Oxidative Phosphorylation Defect Type 23
Oxidative Phosphorylation Deficiency, Combined, Type 23

Lactic Acidosis

Acidosis, Lactic

Acidosis Lactic

Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2

MLASA2	Myopathy With Lactic Acidosis And Sideroblastic Anemia 2
Myopathy, Lactic Acidosis, And Sideroblastic Anemia, Type 2

Hypertrophic Cardiomyopathy

Hypertrophic Obstructive Cardiomyopathy	Cardiomyopathy, Hypertrophic
Cardiomyopathy Hypertrophic Obstructive	Cardiomyopathy, Hypertrophic, Familial
Idiopathic Myocardial Hypertrophy	Idiopathic Hypertrophic Cardiomyopathy
Obstructive Idiopathic Hypertrophic Cardiomyopathy	Obstructive Cardiomyopathy
Idiopathic Hypertrophic Subaortic Stenosis	Muscular Subaortic Stenosis
Hypertrophic Obstructive Subaortic Stenosis

Combined Oxidative Phosphorylation Deficiency

Cardiomyopathy, Infantile Hypertrophic

Infantile Hypertrophic Cardiomyopathy

CMHI

Proprotein Convertase 1/3 Deficiency

Obesity Due To Prohormone Convertase I Deficiency	Obesity With Impaired Prohormone Processing
Obesity And Endocrinopathy Due To Impaired Processing Of Prohormones	Pci Deficiency
Proprotein Convertase 1 3 Deficiency	Endocrinopathy Due To Proprotein Convertase 1/3 Deficiency
Proprotein Convertase 1 Deficiency	PC1 DEFICIENCY

Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay

SIFD	Congenital Sideroblastic Anemia-B-Cell Immunodeficiency-Periodic Fever-Developmental Delay Syndrome
Sifd Syndrome

Drug-Induced Hearing Loss

Drug Induced Hearing Loss

Deafness, Aminoglycoside-Induced

Streptomycin Ototoxicity	Deafness, Mitochondrial, Modifier Of
Aminoglycoside-Induced Deafness	Deafness, Streptomycin-Induced
Streptomycin-Induced Deafness	DFNI

Mitochondrial Encephalomyopathy

Mitochondrial Encephalomyopathies

Encephalomyopathy, Mitochondrial

Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes

Melas Syndrome	MELAS
Mitochondrial Encephalomyopathy Lactic Acidosis And Stroke-Like Episodes	Mitochondrial Myopathy, Lactic Acidosis, Stroke-Like Episode
Mitochondrial Encephalomyopathy, Lactic Acidosis, And Stroke-Like Episodes	Myopathy, Mitochondrial-Encephalopathy-Lactic Acidosis-Stroke
Mitochondrial Encephalomyopathy, Lactic Acidosis And Stroke-Like Episodes	Mitochondrial Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis And Stroke-Like Episodes	Mitochondrial Encephalomyopathy With Lactic Acidosis And Stroke-Like Episodes Syndrome
Myopathy, Mitochondrial, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes

Early Myoclonic Encephalopathy

Myoclonic Epilepsy	Myoclonic Seizure
Epilepsies, Myoclonic	Epileptic Seizures - Myoclonic
Epileptic Seizures, Myoclonic	Myoclonia Epileptica
Myoclonic Seizure Disorder	Early Myoclonic Encephalopathy With Suppression-Bursts

Mitochondrial Myopathy

Mitochondrial Myopathies	Mitochondrial Cytopathy
Myopathies In Mitochondrial Disorders

Leigh Syndrome

Leigh Disease	Infantile Subacute Necrotizing Encephalopathy
Leigh Syndrome Due To Mitochondrial Complex Iv Deficiency	LS
Sne	Leigh'S Disease
Leigh Syndrome Due To Mitochondrial Complex I Deficiency	Necrotizing Encephalopathy, Infantile Subacute, Of Leigh
Subacute Necrotizing Encephalomyelopathy	Necrotizing Encephalopathy Infantile Subacute Of Leigh
Leigh Syndrome Due To Mitochondrial Complex Iii Deficiency	Infantile Necrotizing Encephalomyelopathy
Juvenile Subacute Necrotizing Encephalomyelopathy	Leigh'S Necrotizing Encephalopathy
Subacute Necrotizing Encephalopathy	Juvenile Subacute Necrotizing Encephalopathy
Leigh Syndrome Due To Mitochondrial Complex Ii Deficiency	Leigh Syndrome Due To Mitochondrial Complex V Deficiency
Encephalopathy, Subacute Necrotizing, Infantile	Encephalopathy, Subacute Necrotizing, Juvenile
Maternally Inherited Leigh Syndrome	Subacute Necrotising Encephalomyelopathy
Subacute Necrotising Encephalopathy

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS05910	GTPBP3 Human Pre-designed siRNA Set A		/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Rattus norvegicus	GTPBP3	RGD	RGD:1305367
Bos taurus	GTPBP3	VGNC	VGNC:49552
Canis familiaris	GTPBP3	VGNC	VGNC:54309
Felis catus	GTPBP3	VGNC	VGNC:62736
Macaca mulatta	GTPBP3	VGNC	VGNC:73170
Mus musculus	GTPBP3	MGD	MGI:1917609

Name
Email *

	Sorry, but the email address you supplied was invalid.