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Protein

tRNA modification GTPase GTPBP3, mitochondrial

Gene

GTPBP3

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -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

Keywordsi

Biological processtRNA processing
LigandGTP-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

EuPathDBiHostDB:ENSG00000130299.16
HGNCiHGNC:14880 GTPBP3
MIMi608536 gene
neXtProtiNX_Q969Y2

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

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 dbSNP:rs730880255Ensembl.1
Natural variantiVAR_073301162A → P in COXPD23. 1 Publication1
Natural variantiVAR_073302222A → G in COXPD23. 1 PublicationCorresponds to variant dbSNP:rs373370177Ensembl.1
Natural variantiVAR_073304257P → H in COXPD23. 1 Publication1
Natural variantiVAR_073305312 – 319Missing in COXPD23. 1 Publication8
Natural variantiVAR_073307337D → H in COXPD23. 1 PublicationCorresponds to variant dbSNP:rs886037735Ensembl.1
Natural variantiVAR_073308459E → K in COXPD23. 1 PublicationCorresponds to variant dbSNP:rs886037734Ensembl.1

Keywords - Diseasei

Cardiomyopathy, Disease mutation, Primary mitochondrial disease

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
ProteomicsDBi75877
75878 [Q969Y2-2]
75879 [Q969Y2-3]

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

Show more details

Protein-protein interaction databases

BioGridi124216, 18 interactors
IntActiQ969Y2, 22 interactors

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
OMAiEFTQRAF
OrthoDBiEOG091G07VM
PhylomeDBiQ969Y2
TreeFamiTF313153

Family and domain databases

CDDicd04164 trmE, 1 hit
Gene3Di1.20.120.430, 2 hits
3.30.1360.120, 1 hit
HAMAPiMF_00379 GTPase_MnmE, 1 hit
InterProiView protein in InterPro
IPR031168 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
PfamiView protein in Pfam
PF01926 MMR_HSR1, 1 hit
PF12631 MnmE_helical, 1 hit
PF10396 TrmE_N, 1 hit
SUPFAMiSSF52540 SSF52540, 2 hits
TIGRFAMsiTIGR00231 small_GTP, 1 hit
PROSITEiView protein in PROSITE
PS51709 G_TRME, 1 hit

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 dbSNP:rs730880255Ensembl.1
Natural variantiVAR_073301162A → P in COXPD23. 1 Publication1
Natural variantiVAR_073302222A → G in COXPD23. 1 PublicationCorresponds to variant dbSNP:rs373370177Ensembl.1
Natural variantiVAR_073303225E → K1 PublicationCorresponds to variant dbSNP:rs778983997Ensembl.1
Natural variantiVAR_031103250V → A5 PublicationsCorresponds to variant dbSNP:rs3810206Ensembl.1
Natural variantiVAR_073304257P → H in COXPD23. 1 Publication1
Natural variantiVAR_073305312 – 319Missing in COXPD23. 1 Publication8
Natural variantiVAR_073306322A → P1 PublicationCorresponds to variant dbSNP:rs372174278Ensembl.1
Natural variantiVAR_073307337D → H in COXPD23. 1 PublicationCorresponds to variant dbSNP:rs886037735Ensembl.1
Natural variantiVAR_031104368R → H1 PublicationCorresponds to variant dbSNP:rs3745193Ensembl.1
Natural variantiVAR_073308459E → K in COXPD23. 1 PublicationCorresponds to variant dbSNP:rs886037734Ensembl.1

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

Similar proteinsi

Entry informationi

Entry nameiGTPB3_HUMAN
AccessioniPrimary (citable) accession number: Q969Y2
Secondary accession number(s): A6NFH1
, A6NIG5, A6NKR4, A8K7B4, B7Z4V8, Q8TCY6, Q8WUW9, Q969G4, Q9BX61
Entry historyiIntegrated into UniProtKB/Swiss-Prot: March 20, 2007
Last sequence update: November 30, 2010
Last modified: June 20, 2018
This is version 143 of the entry and version 2 of the sequence. See 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

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