Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.
Entry version 148 (13 Feb 2019)
Sequence version 2 (30 Nov 2010)
Previous versions | rss
Other tutorials and videosHelp videoFeedback
Protein

tRNA modification GTPase GTPBP3, mitochondrial

Gene

GTPBP3

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

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the ‘protein existence’ evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

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

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Function’ section describes a region in the protein which binds nucleotide phosphates. It always involves more than one amino acid and includes all residues involved in nucleotide-binding.<p><a href='/help/np_bind' target='_top'>More...</a></p>Nucleotide bindingi256 – 263GTPSequence analysis8
Nucleotide bindingi303 – 307GTPSequence analysis5
Nucleotide bindingi374 – 377GTPSequence analysis4

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

GO - Biological processi

  • embryonic organ development Source: GO_Central
  • tRNA methylation Source: GO_Central
  • tRNA wobble uridine modification Source: GO_Central

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Biological processtRNA processing
LigandGTP-binding, Nucleotide-binding

Enzyme and pathway databases

Reactome - a knowledgebase of biological pathways and processes

More...
Reactomei
R-HSA-6787450 tRNA modification in the mitochondrion

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
tRNA modification GTPase GTPBP3, mitochondrial
Alternative name(s):
GTP-binding protein 3
Mitochondrial GTP-binding protein 1
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: ‘Name’, ‘Synonyms’, ‘Ordered locus names’ and ‘ORF names’.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:GTPBP3
Synonyms:MTGP1
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the ‘taxonomic identifier’ or ‘taxid’.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components. <br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 19

Organism-specific databases

Eukaryotic Pathogen Database Resources

More...
EuPathDBi
HostDB:ENSG00000130299.16

Human Gene Nomenclature Database

More...
HGNCi
HGNC:14880 GTPBP3

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
608536 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q969Y2

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>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

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the ‘Pathology and Biotech’ section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>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
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_0732983R → L in COXPD23; unknown pathological significance. 2 PublicationsCorresponds to variant dbSNP:rs1057518138Ensembl.1
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

DisGeNET

More...
DisGeNETi
84705

MalaCards human disease database

More...
MalaCardsi
GTPBP3
MIMi580000 phenotype
616198 phenotype

Open Targets

More...
OpenTargetsi
ENSG00000130299

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...
Orphaneti
444013 Combined oxidative phosphorylation defect type 23

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA134883205

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
GTPBP3

Domain mapping of disease mutations (DMDM)

More...
DMDMi
313104112

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section describes the extent of a transit peptide.<p><a href='/help/transit' target='_top'>More...</a></p>Transit peptidei1 – 81MitochondrionSequence analysisAdd BLAST81
<p>This subsection of the ‘PTM / Processing’ section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_000028026582 – 492tRNA modification GTPase GTPBP3, mitochondrialAdd BLAST411

Proteomic databases

jPOST - Japan Proteome Standard Repository/Database

More...
jPOSTi
Q969Y2

MaxQB - The MaxQuant DataBase

More...
MaxQBi
Q969Y2

PeptideAtlas

More...
PeptideAtlasi
Q969Y2

PRoteomics IDEntifications database

More...
PRIDEi
Q969Y2

ProteomicsDB human proteome resource

More...
ProteomicsDBi
75877
75878 [Q969Y2-2]
75879 [Q969Y2-3]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
Q969Y2

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...
PhosphoSitePlusi
Q969Y2

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

<p>This subsection of the ‘Expression’ section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified ‘at protein level’. <br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

Ubiquitously expressed.1 Publication

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000130299 Expressed in 210 organ(s), highest expression level in amniotic fluid

ExpressionAtlas, Differential and Baseline Expression

More...
ExpressionAtlasi
Q969Y2 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...
Genevisiblei
Q969Y2 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
HPA042158

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction_section%27">Interaction</a> section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="http://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated on a monthly basis. Each binary interaction is displayed on a separate line.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

More...
BioGridi
124216, 18 interactors

Protein interaction database and analysis system

More...
IntActi
Q969Y2, 33 interactors

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

3D structure databases

Protein Model Portal of the PSI-Nature Structural Biology Knowledgebase

More...
ProteinModelPortali
Q969Y2

SWISS-MODEL Repository - a database of annotated 3D protein structure models

More...
SMRi
Q969Y2

Database of comparative protein structure models

More...
ModBasei
Search...

MobiDB: a database of protein disorder and mobility annotations

More...
MobiDBi
Search...

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/family_and_domains_section">Family and Domains</a> section describes the position and type of a domain, which is defined as a specific combination of secondary structures organized into a characteristic three-dimensional structure or fold.<p><a href='/help/domain' target='_top'>More...</a></p>Domaini249 – 416TrmE-type GAdd BLAST168

<p>This subsection of the ‘Family and domains’ section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Keywords - Domaini

Transit peptide

Phylogenomic databases

Ensembl GeneTree

More...
GeneTreei
ENSGT00390000016851

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...
HOGENOMi
HOG000200714

The HOVERGEN Database of Homologous Vertebrate Genes

More...
HOVERGENi
HBG081577

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
Q969Y2

KEGG Orthology (KO)

More...
KOi
K03650

Identification of Orthologs from Complete Genome Data

More...
OMAi
CEIQCHG

Database of Orthologous Groups

More...
OrthoDBi
834238at2759

Database for complete collections of gene phylogenies

More...
PhylomeDBi
Q969Y2

TreeFam database of animal gene trees

More...
TreeFami
TF313153

Family and domain databases

Conserved Domains Database

More...
CDDi
cd04164 trmE, 1 hit

Gene3D Structural and Functional Annotation of Protein Families

More...
Gene3Di
1.20.120.430, 1 hit
3.30.1360.120, 1 hit

HAMAP database of protein families

More...
HAMAPi
MF_00379 GTPase_MnmE, 1 hit

Integrated resource of protein families, domains and functional sites

More...
InterProi
View 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

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF01926 MMR_HSR1, 1 hit
PF12631 MnmE_helical, 1 hit
PF10396 TrmE_N, 1 hit

Superfamily database of structural and functional annotation

More...
SUPFAMi
SSF52540 SSF52540, 1 hit

TIGRFAMs; a protein family database

More...
TIGRFAMsi
TIGR00231 small_GTP, 1 hit

PROSITE; a protein domain and family database

More...
PROSITEi
View protein in PROSITE
PS51709 G_TRME, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>.<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (4+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is in its mature form or if it represents the precursor.<p><a href='/help/sequence_processing' target='_top'>More...</a></p>Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 4 <p>This subsection of the ‘Sequence’ section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 4 described isoforms and 5 potential isoforms that are computationally mapped.Show allAlign All

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
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> 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

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There are 5 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
M0R0S9M0R0S9_HUMAN
tRNA modification GTPase GTPBP3, mi...
GTPBP3
227Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
M0R1X0M0R1X0_HUMAN
tRNA modification GTPase GTPBP3, mi...
GTPBP3
151Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
M0QYW1M0QYW1_HUMAN
tRNA modification GTPase GTPBP3, mi...
GTPBP3
101Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
M0R161M0R161_HUMAN
tRNA modification GTPase GTPBP3, mi...
GTPBP3
125Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
M0QXA1M0QXA1_HUMAN
tRNA modification GTPase GTPBP3, mi...
GTPBP3
44Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

<p>This subsection of the ‘Sequence’ section provides information on polymorphic variants. If the variant is associated with a disease state, the description of the latter can be found in the <a href="http://www.uniprot.org/manual/involvement_in_disease">'Involvement in disease'</a> subsection.<p><a href='/help/polymorphism' target='_top'>More...</a></p>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 PublicationsCorresponds to variant dbSNP:rs1057518138Ensembl.1
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
<p>This subsection of the ‘Sequence’ section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting.<p><a href='/help/var_seq' target='_top'>More...</a></p>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:

EMBL nucleotide sequence database

More...
EMBLi

GenBank nucleotide sequence database

More...
GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...
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

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS32950.1 [Q969Y2-2]
CCDS32951.1 [Q969Y2-1]
CCDS56088.1 [Q969Y2-4]
CCDS59364.1 [Q969Y2-3]

NCBI Reference Sequences

More...
RefSeqi
NP_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]

UniGene gene-oriented nucleotide sequence clusters

More...
UniGenei
Hs.334885

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000324894; ENSP00000313818; ENSG00000130299 [Q969Y2-1]
ENST00000358792; ENSP00000351644; ENSG00000130299 [Q969Y2-2]
ENST00000361619; ENSP00000354598; ENSG00000130299 [Q969Y2-4]
ENST00000600625; ENSP00000473150; ENSG00000130299 [Q969Y2-3]

Database of genes from NCBI RefSeq genomes

More...
GeneIDi
84705

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...
KEGGi
hsa:84705

UCSC genome browser

More...
UCSCi
uc002ngg.5 human [Q969Y2-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>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, 18 interactors
IntActiQ969Y2, 33 interactors

PTM databases

iPTMnetiQ969Y2
PhosphoSitePlusiQ969Y2

Polymorphism and mutation databases

BioMutaiGTPBP3
DMDMi313104112

Proteomic databases

jPOSTiQ969Y2
MaxQBiQ969Y2
PeptideAtlasiQ969Y2
PRIDEiQ969Y2
ProteomicsDBi75877
75878 [Q969Y2-2]
75879 [Q969Y2-3]

Protocols and materials databases

The DNASU plasmid repository

More...
DNASUi
84705
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

Comparative Toxicogenomics Database

More...
CTDi
84705
DisGeNETi84705
EuPathDBiHostDB:ENSG00000130299.16

GeneCards: human genes, protein and diseases

More...
GeneCardsi
GTPBP3

H-Invitational Database, human transcriptome db

More...
H-InvDBi
HIX0014890
HGNCiHGNC:14880 GTPBP3
HPAiHPA042158
MalaCardsiGTPBP3
MIMi580000 phenotype
608536 gene
616198 phenotype
neXtProtiNX_Q969Y2
OpenTargetsiENSG00000130299
Orphaneti444013 Combined oxidative phosphorylation defect type 23
PharmGKBiPA134883205

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

GeneTreeiENSGT00390000016851
HOGENOMiHOG000200714
HOVERGENiHBG081577
InParanoidiQ969Y2
KOiK03650
OMAiCEIQCHG
OrthoDBi834238at2759
PhylomeDBiQ969Y2
TreeFamiTF313153

Enzyme and pathway databases

ReactomeiR-HSA-6787450 tRNA modification in the mitochondrion

Miscellaneous databases

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

More...
ChiTaRSi
GTPBP3 human

The Gene Wiki collection of pages on human genes and proteins

More...
GeneWikii
GTPBP3

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

More...
GenomeRNAii
84705

Protein Ontology

More...
PROi
PR:Q969Y2

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000130299 Expressed in 210 organ(s), highest expression level in amniotic fluid
ExpressionAtlasiQ969Y2 baseline and differential
GenevisibleiQ969Y2 HS

Family and domain databases

CDDicd04164 trmE, 1 hit
Gene3Di1.20.120.430, 1 hit
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, 1 hit
TIGRFAMsiTIGR00231 small_GTP, 1 hit
PROSITEiView protein in PROSITE
PS51709 G_TRME, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

More...
ProtoNeti
Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the ‘Entry information’ section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiGTPB3_HUMAN
<p>This subsection of the ‘Entry information’ section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called ‘Primary (citable) accession number’.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: Q969Y2
Secondary accession number(s): A6NFH1
, A6NIG5, A6NKR4, A8K7B4, B7Z4V8, Q8TCY6, Q8WUW9, Q969G4, Q9BX61
<p>This subsection of the ‘Entry information’ section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification (‘Last modified’). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: March 20, 2007
Last sequence update: November 30, 2010
Last modified: February 13, 2019
This is version 148 of the entry and version 2 of the sequence. See complete history.
<p>This subsection of the ‘Entry information’ section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>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.

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>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. SIMILARITY comments
    Index of protein domains and families
  3. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  4. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  5. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
UniProt is an ELIXIR core data resource
Main funding by: National Institutes of Health

We'd like to inform you that we have updated our Privacy Notice to comply with Europe’s new General Data Protection Regulation (GDPR) that applies since 25 May 2018.

Do not show this banner again