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Protein

tRNA modification GTPase GTPBP3, mitochondrial

Gene

GTPBP3

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

GTPase involved in the 5-carboxymethylaminomethyl modification (mnm5s2U34) of the wobble uridine base in mitochondrial tRNAs.Curated

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Nucleotide bindingi256 – 263GTPSequence analysis8
Nucleotide bindingi303 – 307GTPSequence analysis5
Nucleotide bindingi374 – 377GTPSequence analysis4

GO - Molecular functioni

GO - Biological processi

Complete GO annotation...

Keywords - Biological processi

tRNA processing

Keywords - Ligandi

GTP-binding, Nucleotide-binding

Enzyme and pathway databases

ReactomeiR-HSA-6787450. tRNA modification in the mitochondrion.

Names & Taxonomyi

Protein namesi
Recommended name:
tRNA modification GTPase GTPBP3, mitochondrial
Alternative name(s):
GTP-binding protein 3
Mitochondrial GTP-binding protein 1
Gene namesi
Name:GTPBP3
Synonyms:MTGP1
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 19

Organism-specific databases

HGNCiHGNC:14880. GTPBP3.

Subcellular locationi

  • Mitochondrion 1 Publication

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Mitochondrion

Pathology & Biotechi

Involvement in diseasei

Combined oxidative phosphorylation deficiency 23 (COXPD23)2 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn autosomal recessive mitochondrial disorder characterized by hypertrophic cardiomyopathy and/or neurologic symptoms with onset in early childhood. Disease features include hypertrophic cardiomyopathy, hypotonia, delayed psychomotor development, lactic acidosis, impaired activities of respiratory complexes I and IV, and defective translation of mitochondrial proteins. Disease severity is variable, ranging from death in early infancy to survival into the second decade of life.
See also OMIM:616198
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_0732983R → L in COXPD23; unknown pathological significance. 2 Publications1
Natural variantiVAR_073299142E → K in COXPD23. 1 Publication1
Natural variantiVAR_073300159E → V in COXPD23. 1 PublicationCorresponds to variant rs730880255dbSNPEnsembl.1
Natural variantiVAR_073301162A → P in COXPD23. 1 Publication1
Natural variantiVAR_073302222A → G in COXPD23. 1 PublicationCorresponds to variant rs373370177dbSNPEnsembl.1
Natural variantiVAR_073304257P → H in COXPD23. 1 Publication1
Natural variantiVAR_073305312 – 319Missing in COXPD23. 1 Publication8
Natural variantiVAR_073307337D → H in COXPD23. 1 Publication1
Natural variantiVAR_073308459E → K in COXPD23. 1 Publication1

Keywords - Diseasei

Cardiomyopathy, Disease mutation

Organism-specific databases

DisGeNETi84705.
MalaCardsiGTPBP3.
MIMi580000. phenotype.
616198. phenotype.
OpenTargetsiENSG00000130299.
PharmGKBiPA134883205.

Polymorphism and mutation databases

BioMutaiGTPBP3.
DMDMi313104112.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Transit peptidei1 – 81MitochondrionSequence analysisAdd BLAST81
ChainiPRO_000028026582 – 492tRNA modification GTPase GTPBP3, mitochondrialAdd BLAST411

Proteomic databases

MaxQBiQ969Y2.
PeptideAtlasiQ969Y2.
PRIDEiQ969Y2.

PTM databases

iPTMnetiQ969Y2.
PhosphoSitePlusiQ969Y2.

Expressioni

Tissue specificityi

Ubiquitously expressed.1 Publication

Gene expression databases

BgeeiENSG00000130299.
CleanExiHS_GTPBP3.
ExpressionAtlasiQ969Y2. baseline and differential.
GenevisibleiQ969Y2. HS.

Organism-specific databases

HPAiHPA042158.

Interactioni

Binary interactionsi

WithEntry#Exp.IntActNotes
GNEQ9Y2233EBI-740290,EBI-4291090
PARP11Q9NR213EBI-740290,EBI-748917
PFKLP178583EBI-740290,EBI-487243

Protein-protein interaction databases

BioGridi124216. 15 interactors.
IntActiQ969Y2. 14 interactors.
MINTiMINT-2877402.

Structurei

3D structure databases

ProteinModelPortaliQ969Y2.
SMRiQ969Y2.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini249 – 416TrmE-type GAdd BLAST168

Sequence similaritiesi

Keywords - Domaini

Transit peptide

Phylogenomic databases

GeneTreeiENSGT00390000016851.
HOGENOMiHOG000200714.
HOVERGENiHBG081577.
InParanoidiQ969Y2.
KOiK03650.
OMAiDIPLDMC.
OrthoDBiEOG091G07VM.
PhylomeDBiQ969Y2.
TreeFamiTF313153.

Family and domain databases

CDDicd04164. trmE. 1 hit.
Gene3Di1.20.120.430. 3 hits.
3.30.1360.120. 1 hit.
3.40.50.300. 2 hits.
HAMAPiMF_00379. GTPase_MnmE. 1 hit.
InterProiIPR031168. G_TrmE.
IPR018948. GTP-bd_TrmE_N.
IPR006073. GTP_binding_domain.
IPR004520. GTPase_MnmE.
IPR027368. MnmE_dom2.
IPR025867. MnmE_helical.
IPR027417. P-loop_NTPase.
IPR005225. Small_GTP-bd_dom.
IPR027266. TrmE/GcvT_dom1.
[Graphical view]
PfamiPF01926. MMR_HSR1. 1 hit.
PF12631. MnmE_helical. 1 hit.
PF10396. TrmE_N. 1 hit.
[Graphical view]
SUPFAMiSSF52540. SSF52540. 2 hits.
TIGRFAMsiTIGR00231. small_GTP. 1 hit.
PROSITEiPS51709. G_TRME. 1 hit.
[Graphical view]

Sequences (4)i

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 4 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q969Y2-1) [UniParc]FASTAAdd to basket
Also known as: V

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MWRGLWTLAA QAARGPRRLC TRRSSGAPAP GSGATIFALS SGQGRCGIAV
60 70 80 90 100
IRTSGPASGH ALRILTAPRD LPLARHASLR LLSDPRSGEP LDRALVLWFP
110 120 130 140 150
GPQSFTGEDC VEFHVHGGPA VVSGVLQALG SVPGLRPAEA GEFTRRAFAN
160 170 180 190 200
GKLNLTEVEG LADLIHAETE AQRRQALRQL DGELGHLCRG WAETLTKALA
210 220 230 240 250
HVEAYIDFGE DDNLEEGVLE QADIEVRALQ VALGAHLRDA RRGQRLRSGV
260 270 280 290 300
HVVVTGPPNA GKSSLVNLLS RKPVSIVSPE PGTTRDVLET PVDLAGFPVL
310 320 330 340 350
LSDTAGLREG VGPVEQEGVR RARERLEQAD LILAMLDASD LASPSSCNFL
360 370 380 390 400
ATVVASVGAQ SPSDSSQRLL LVLNKSDLLS PEGPGPGPDL PPHLLLSCLT
410 420 430 440 450
GEGLDGLLEA LRKELAAVCG DPSTDPPLLT RARHQHHLQG CLDALGHYKQ
460 470 480 490
SKDLALAAEA LRVARGHLTR LTGGGGTEEI LDIIFQDFCV GK
Length:492
Mass (Da):52,058
Last modified:November 30, 2010 - v2
Checksum:iF39EA7990A1F6494
GO
Isoform 2 (identifier: Q969Y2-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     221-221: Q → QGGSTWWWGRKTPHISPQRLPSLSLSACLLSPT

Show »
Length:524
Mass (Da):55,561
Checksum:iBAAEFDD1075439DE
GO
Isoform 3 (identifier: Q969Y2-3) [UniParc]FASTAAdd to basket
Also known as: IV

The sequence of this isoform differs from the canonical sequence as follows:
     325-345: Missing.

Show »
Length:471
Mass (Da):49,847
Checksum:i7D9CFF4915467CF7
GO
Isoform 4 (identifier: Q969Y2-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-18: MWRGLWTLAAQAARGPRR → MVHSPTCPHPCFLLVPASEPQFPHLQTPDPGDAVWNVRWA

Note: No experimental confirmation available.
Show »
Length:514
Mass (Da):54,440
Checksum:iF579B15D46BFA43E
GO

Polymorphismi

Val-250 variation may influence aminoglycoside-induced deafness (AID) [MIMi:580000]. AID is characterized by deafness, varying from profond congenital hearing loss to normal hearing, and is caused by homoplasmic A1555G mutation in the mitochondrial 12S rRNA. Val-250 may affect the accuracy of codon-anticodon interaction, leading to modulate the translational efficiency and thereby affecting the severity of deafness in patients homozygous for 12S rRNA A1555G mutation.

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_0732983R → L in COXPD23; unknown pathological significance. 2 Publications1
Natural variantiVAR_073299142E → K in COXPD23. 1 Publication1
Natural variantiVAR_073300159E → V in COXPD23. 1 PublicationCorresponds to variant rs730880255dbSNPEnsembl.1
Natural variantiVAR_073301162A → P in COXPD23. 1 Publication1
Natural variantiVAR_073302222A → G in COXPD23. 1 PublicationCorresponds to variant rs373370177dbSNPEnsembl.1
Natural variantiVAR_073303225E → K.1 PublicationCorresponds to variant rs778983997dbSNPEnsembl.1
Natural variantiVAR_031103250V → A.5 PublicationsCorresponds to variant rs3810206dbSNPEnsembl.1
Natural variantiVAR_073304257P → H in COXPD23. 1 Publication1
Natural variantiVAR_073305312 – 319Missing in COXPD23. 1 Publication8
Natural variantiVAR_073306322A → P.1 PublicationCorresponds to variant rs372174278dbSNPEnsembl.1
Natural variantiVAR_073307337D → H in COXPD23. 1 Publication1
Natural variantiVAR_031104368R → H.1 PublicationCorresponds to variant rs3745193dbSNPEnsembl.1
Natural variantiVAR_073308459E → K in COXPD23. 1 Publication1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0450501 – 18MWRGL…RGPRR → MVHSPTCPHPCFLLVPASEP QFPHLQTPDPGDAVWNVRWA in isoform 4. 1 PublicationAdd BLAST18
Alternative sequenceiVSP_023583221Q → QGGSTWWWGRKTPHISPQRL PSLSLSACLLSPT in isoform 2. 1 Publication1
Alternative sequenceiVSP_023584325 – 345Missing in isoform 3. 1 PublicationAdd BLAST21

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF360742 mRNA. Translation: AAK39555.1.
AF361481 Genomic DNA. Translation: AAK37568.1.
AF360743 mRNA. Translation: AAK39556.1.
AF360744 mRNA. Translation: AAK39557.1.
AY078987 mRNA. Translation: AAL85492.1.
AY078988 mRNA. Translation: AAL85493.1.
AK027606 mRNA. Translation: BAB55228.1.
AK291929 mRNA. Translation: BAF84618.1.
AK297953 mRNA. Translation: BAH12694.1.
AC010463 Genomic DNA. No translation available.
CH471106 Genomic DNA. Translation: EAW84597.1.
BC017207 mRNA. Translation: AAH17207.1.
BC019261 mRNA. Translation: AAH19261.1.
CCDSiCCDS32950.1. [Q969Y2-2]
CCDS32951.1. [Q969Y2-1]
CCDS56088.1. [Q969Y2-4]
CCDS59364.1. [Q969Y2-3]
RefSeqiNP_001122327.1. NM_001128855.2. [Q969Y2-3]
NP_001182351.1. NM_001195422.1. [Q969Y2-4]
NP_116009.2. NM_032620.3. [Q969Y2-1]
NP_598399.2. NM_133644.3. [Q969Y2-2]
UniGeneiHs.334885.

Genome annotation databases

EnsembliENST00000324894; ENSP00000313818; ENSG00000130299. [Q969Y2-1]
ENST00000358792; ENSP00000351644; ENSG00000130299. [Q969Y2-2]
ENST00000361619; ENSP00000354598; ENSG00000130299. [Q969Y2-4]
ENST00000600625; ENSP00000473150; ENSG00000130299. [Q969Y2-3]
GeneIDi84705.
KEGGihsa:84705.
UCSCiuc002ngg.5. human. [Q969Y2-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF360742 mRNA. Translation: AAK39555.1.
AF361481 Genomic DNA. Translation: AAK37568.1.
AF360743 mRNA. Translation: AAK39556.1.
AF360744 mRNA. Translation: AAK39557.1.
AY078987 mRNA. Translation: AAL85492.1.
AY078988 mRNA. Translation: AAL85493.1.
AK027606 mRNA. Translation: BAB55228.1.
AK291929 mRNA. Translation: BAF84618.1.
AK297953 mRNA. Translation: BAH12694.1.
AC010463 Genomic DNA. No translation available.
CH471106 Genomic DNA. Translation: EAW84597.1.
BC017207 mRNA. Translation: AAH17207.1.
BC019261 mRNA. Translation: AAH19261.1.
CCDSiCCDS32950.1. [Q969Y2-2]
CCDS32951.1. [Q969Y2-1]
CCDS56088.1. [Q969Y2-4]
CCDS59364.1. [Q969Y2-3]
RefSeqiNP_001122327.1. NM_001128855.2. [Q969Y2-3]
NP_001182351.1. NM_001195422.1. [Q969Y2-4]
NP_116009.2. NM_032620.3. [Q969Y2-1]
NP_598399.2. NM_133644.3. [Q969Y2-2]
UniGeneiHs.334885.

3D structure databases

ProteinModelPortaliQ969Y2.
SMRiQ969Y2.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi124216. 15 interactors.
IntActiQ969Y2. 14 interactors.
MINTiMINT-2877402.

PTM databases

iPTMnetiQ969Y2.
PhosphoSitePlusiQ969Y2.

Polymorphism and mutation databases

BioMutaiGTPBP3.
DMDMi313104112.

Proteomic databases

MaxQBiQ969Y2.
PeptideAtlasiQ969Y2.
PRIDEiQ969Y2.

Protocols and materials databases

DNASUi84705.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000324894; ENSP00000313818; ENSG00000130299. [Q969Y2-1]
ENST00000358792; ENSP00000351644; ENSG00000130299. [Q969Y2-2]
ENST00000361619; ENSP00000354598; ENSG00000130299. [Q969Y2-4]
ENST00000600625; ENSP00000473150; ENSG00000130299. [Q969Y2-3]
GeneIDi84705.
KEGGihsa:84705.
UCSCiuc002ngg.5. human. [Q969Y2-1]

Organism-specific databases

CTDi84705.
DisGeNETi84705.
GeneCardsiGTPBP3.
H-InvDBHIX0014890.
HGNCiHGNC:14880. GTPBP3.
HPAiHPA042158.
MalaCardsiGTPBP3.
MIMi580000. phenotype.
608536. gene.
616198. phenotype.
neXtProtiNX_Q969Y2.
OpenTargetsiENSG00000130299.
PharmGKBiPA134883205.
GenAtlasiSearch...

Phylogenomic databases

GeneTreeiENSGT00390000016851.
HOGENOMiHOG000200714.
HOVERGENiHBG081577.
InParanoidiQ969Y2.
KOiK03650.
OMAiDIPLDMC.
OrthoDBiEOG091G07VM.
PhylomeDBiQ969Y2.
TreeFamiTF313153.

Enzyme and pathway databases

ReactomeiR-HSA-6787450. tRNA modification in the mitochondrion.

Miscellaneous databases

GeneWikiiGTPBP3.
GenomeRNAii84705.
PROiQ969Y2.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000130299.
CleanExiHS_GTPBP3.
ExpressionAtlasiQ969Y2. baseline and differential.
GenevisibleiQ969Y2. HS.

Family and domain databases

CDDicd04164. trmE. 1 hit.
Gene3Di1.20.120.430. 3 hits.
3.30.1360.120. 1 hit.
3.40.50.300. 2 hits.
HAMAPiMF_00379. GTPase_MnmE. 1 hit.
InterProiIPR031168. G_TrmE.
IPR018948. GTP-bd_TrmE_N.
IPR006073. GTP_binding_domain.
IPR004520. GTPase_MnmE.
IPR027368. MnmE_dom2.
IPR025867. MnmE_helical.
IPR027417. P-loop_NTPase.
IPR005225. Small_GTP-bd_dom.
IPR027266. TrmE/GcvT_dom1.
[Graphical view]
PfamiPF01926. MMR_HSR1. 1 hit.
PF12631. MnmE_helical. 1 hit.
PF10396. TrmE_N. 1 hit.
[Graphical view]
SUPFAMiSSF52540. SSF52540. 2 hits.
TIGRFAMsiTIGR00231. small_GTP. 1 hit.
PROSITEiPS51709. G_TRME. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiGTPB3_HUMAN
AccessioniPrimary (citable) accession number: Q969Y2
Secondary accession number(s): A6NFH1
, A6NIG5, A6NKR4, A8K7B4, B7Z4V8, Q8TCY6, Q8WUW9, Q969G4, Q9BX61
Entry historyi
Integrated into UniProtKB/Swiss-Prot: March 20, 2007
Last sequence update: November 30, 2010
Last modified: November 30, 2016
This is version 130 of the entry and version 2 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 19
    Human chromosome 19: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.