GTPBP3 - GTP binding protein 3, mitochondrial Gene

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

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 84705

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

Gene Ontology

Molecular Function

Molecular Function GO Annotation	Evidence	References	Source
enables protein binding	IPI IPI: Inferred from physical interaction	25416956	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

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

GTPBP3 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	GTPBP3	Q969Y2	BEND7	Homo sapiens	Q8N7W2-2	Y2H Array	32296183
Intra	GTPBP3	Q969Y2	BEND7	Homo sapiens	Q8N7W2-2	Y2H Prey Pooling	32296183
Intra	GTPBP3	Q969Y2	ZNF774	Homo sapiens	Q6NX45	Y2H Array	32296183
Intra	GTPBP3	Q969Y2	ZNF774	Homo sapiens	Q6NX45	Y2H Prey Pooling	32296183
Intra	GTPBP3	Q969Y2	POLDIP3	Homo sapiens	Q8WUT1	Y2H Prey Pooling	32296183
Intra	GTPBP3	Q969Y2	POLDIP3	Homo sapiens	Q8WUT1	Y2H Array	32296183
Intra	GTPBP3	Q969Y2	ZFP90	Homo sapiens	Q8TF47	Y2H Prey Pooling	32296183
Intra	GTPBP3	Q969Y2	ZFP90	Homo sapiens	Q8TF47	Y2H Array	32296183
Intra	GTPBP3	Q969Y2	CAPN3	Homo sapiens	P20807-4	Y2H Array	32296183
Intra	GTPBP3	Q969Y2	CAPN3	Homo sapiens	P20807-4	Y2H Prey Pooling	32296183
Intra	GTPBP3	Q969Y2	TCF12	Homo sapiens	Q99081-3	Validated Y2H	32296183
Intra	GTPBP3	Q969Y2	TCF12	Homo sapiens	Q99081-3	Y2H Prey Pooling	32296183
Intra	GTPBP3	Q969Y2	TCF12	Homo sapiens	Q99081-3	Y2H Array	32296183
Intra	GTPBP3	Q969Y2	ZNF69	Homo sapiens	Q9UC07-2	Y2H Prey Pooling	32296183
Intra	GTPBP3	Q969Y2	ZNF69	Homo sapiens	Q9UC07-2	Validated Y2H	32296183
Intra	GTPBP3	Q969Y2	ZNF69	Homo sapiens	Q9UC07-2	Y2H Array	32296183
Intra	GTPBP3	Q969Y2	MBD3L1	Homo sapiens	Q8WWY6	Y2H Prey Pooling	32296183
Intra	GTPBP3	Q969Y2	MBD3L1	Homo sapiens	Q8WWY6	Y2H Array	32296183
Intra	GTPBP3	Q969Y2	TBC1D3G	Homo sapiens	Q6DHY5	Y2H Prey Pooling	32296183
Intra	GTPBP3	Q969Y2	TBC1D3G	Homo sapiens	Q6DHY5	Y2H Array	32296183
Intra	GTPBP3	Q969Y2	MEOX2	Homo sapiens	Q6FHY5	Y2H Array	32296183
Intra	GTPBP3	Q969Y2	MEOX2	Homo sapiens	Q6FHY5	Y2H Prey Pooling	32296183
Intra	GTPBP3	Q969Y2	PARP11	Homo sapiens	Q9NR21-1	Y2H Prey Pooling	32296183
Intra	GTPBP3	Q969Y2	PARP11	Homo sapiens	Q9NR21-1	Validated Y2H	32296183
Intra	GTPBP3	Q969Y2	PARP11	Homo sapiens	Q9NR21-1	Y2H Array	32296183
Intra	GTPBP3	Q969Y2	CCDC32	Homo sapiens	Q9BV29	Validated Y2H	32296183
Intra	GTPBP3	Q969Y2	CCDC32	Homo sapiens	Q9BV29	Y2H Array	32296183
Intra	GTPBP3	Q969Y2	CCDC32	Homo sapiens	Q9BV29	Y2H Prey Pooling	32296183
Intra	GTPBP3	Q969Y2	GNE	Homo sapiens	Q9Y223	Y2H Prey Pooling	25416956
Intra	GTPBP3	Q969Y2	PFKL	Homo sapiens	P17858	Y2H Prey Pooling	25416956
Intra	GTPBP3	Q969Y2	PFKL	Homo sapiens	P17858	Y2H Array	25416956
Intra	GTPBP3	Q969Y2	COPS5	Homo sapiens	Q92905	Y2H Array	32296183
Intra	GTPBP3	Q969Y2	COPS5	Homo sapiens	Q92905	Y2H Prey Pooling	32296183
Intra	GTPBP3	Q969Y2	MESD	Homo sapiens	Q14696	Y2H Array	32296183
Intra	GTPBP3	Q969Y2	MESD	Homo sapiens	Q14696	Y2H Prey Pooling	32296183
Intra	GTPBP3	Q969Y2	INCA1	Homo sapiens	Q0VD86	Y2H Prey Pooling	32296183
Intra	GTPBP3	Q969Y2	INCA1	Homo sapiens	Q0VD86	Y2H Array	32296183
Intra	GTPBP3	Q969Y2	DPPA4	Homo sapiens	Q7L190	Y2H Prey Pooling	32296183
Intra	GTPBP3	Q969Y2	DPPA4	Homo sapiens	Q7L190	Y2H Array	32296183
Intra	GTPBP3	Q969Y2	ITGB3BP	Homo sapiens	Q13352	Y2H Array	32296183
Intra	GTPBP3	Q969Y2	ITGB3BP	Homo sapiens	Q13352	Y2H Prey Pooling	32296183
Intra	GTPBP3	Q969Y2	AGR2	Homo sapiens	O95994	Y2H Array	32296183
Intra	GTPBP3	Q969Y2	AGR2	Homo sapiens	O95994	Y2H Prey Pooling	32296183
Intra	GTPBP3	Q969Y2	DDIT4L	Homo sapiens	Q96D03	Y2H Prey Pooling	32296183
Intra	GTPBP3	Q969Y2	DDIT4L	Homo sapiens	Q96D03	Validated Y2H	32296183
Intra	GTPBP3	Q969Y2	DDIT4L	Homo sapiens	Q96D03	Y2H Array	32296183
Intra	GTPBP3	Q969Y2	SERTAD3	Homo sapiens	Q9UJW9	Validated Y2H	32296183
Intra	GTPBP3	Q969Y2	SERTAD3	Homo sapiens	Q9UJW9	Y2H Array	32296183
Intra	GTPBP3	Q969Y2	SERTAD3	Homo sapiens	Q9UJW9	Y2H Prey Pooling	32296183
Intra	GTPBP3	Q969Y2	RCN1	Homo sapiens	Q15293	Y2H Prey Pooling	32296183
Intra	GTPBP3	Q969Y2	RCN1	Homo sapiens	Q15293	Y2H Array	32296183
Intra	GTPBP3	Q969Y2	RALY	Homo sapiens	Q53GL6	Y2H Array	32296183
Intra	GTPBP3	Q969Y2	RALY	Homo sapiens	Q53GL6	Y2H Prey Pooling	32296183

Cross: Cross-species interaction Intra: Intraspecies interaction

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

Pre-clinical Phase

Bioactive Molecules (2)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-149193	5-Taurinomethyluridine		/	Unkown
HY-RS05910	GTPBP3 Human Pre-designed siRNA Set A	Pre-designed Set	/	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
Others	GTPBP3	NCBI