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Aliases for GTPBP3 Gene

Aliases for GTPBP3 Gene

  • GTP Binding Protein 3 (Mitochondrial) 2 3 5
  • Mitochondrial GTP-Binding Protein 1 3 4
  • MTGP1 3 4
  • GTP-Binding Protein 3 4
  • COXPD23 3
  • GTPBG3 3
  • THDF1 3
  • MSS1 3

External Ids for GTPBP3 Gene

Previous GeneCards Identifiers for GTPBP3 Gene

  • GC19P017309
  • GC19P017448
  • GC19P017014
  • GC19P017529
  • GC19P017903
  • GC19P017503
  • GC19P017697

Summaries for GTPBP3 Gene

Entrez Gene Summary for GTPBP3 Gene

  • 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]

GeneCards Summary for GTPBP3 Gene

GTPBP3 (GTP Binding Protein 3 (Mitochondrial)) is a Protein Coding gene. Diseases associated with GTPBP3 include combined oxidative phosphorylation deficiency 23 and lactic acidosis. Among its related pathways are Gene Expression and tRNA processing. GO annotations related to this gene include GTP binding and GTPase activity.

UniProtKB/Swiss-Prot for GTPBP3 Gene

  • GTPase involved in the 5-carboxymethylaminomethyl modification (mnm(5)s(2)U34) of the wobble uridine base in mitochondrial tRNAs.

Gene Wiki entry for GTPBP3 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for GTPBP3 Gene

Genomics for GTPBP3 Gene

Regulatory Elements for GTPBP3 Gene

Promoters for GTPBP3 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around GTPBP3 on UCSC Golden Path with GeneCards custom track

Genomic Location for GTPBP3 Gene

Chromosome:
19
Start:
17,334,920 bp from pter
End:
17,342,735 bp from pter
Size:
7,816 bases
Orientation:
Plus strand

Genomic View for GTPBP3 Gene

Genes around GTPBP3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
GTPBP3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for GTPBP3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for GTPBP3 Gene

Proteins for GTPBP3 Gene

  • Protein details for GTPBP3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q969Y2-GTPB3_HUMAN
    Recommended name:
    tRNA modification GTPase GTPBP3, mitochondrial
    Protein Accession:
    Q969Y2
    Secondary Accessions:
    • A6NFH1
    • A6NIG5
    • A6NKR4
    • A8K7B4
    • B7Z4V8
    • Q8TCY6
    • Q8WUW9
    • Q969G4
    • Q9BX61

    Protein attributes for GTPBP3 Gene

    Size:
    492 amino acids
    Molecular mass:
    52058 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for GTPBP3 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for GTPBP3 Gene

Proteomics data for GTPBP3 Gene at MOPED

Post-translational modifications for GTPBP3 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Antibody Products

No data available for DME Specific Peptides for GTPBP3 Gene

Domains & Families for GTPBP3 Gene

Graphical View of Domain Structure for InterPro Entry

Q969Y2

UniProtKB/Swiss-Prot:

GTPB3_HUMAN :
  • Contains 1 TrmE-type G (guanine nucleotide-binding) domain.
  • Belongs to the TRAFAC class TrmE-Era-EngA-EngB-Septin-like GTPase superfamily. TrmE GTPase family.
Domain:
  • Contains 1 TrmE-type G (guanine nucleotide-binding) domain.
Family:
  • Belongs to the TRAFAC class TrmE-Era-EngA-EngB-Septin-like GTPase superfamily. TrmE GTPase family.
genes like me logo Genes that share domains with GTPBP3: view

No data available for Gene Families for GTPBP3 Gene

Function for GTPBP3 Gene

Molecular function for GTPBP3 Gene

UniProtKB/Swiss-Prot Function:
GTPase involved in the 5-carboxymethylaminomethyl modification (mnm(5)s(2)U34) of the wobble uridine base in mitochondrial tRNAs.
genes like me logo Genes that share phenotypes with GTPBP3: view

Human Phenotype Ontology for GTPBP3 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Animal Models , Transcription Factor Targets and HOMER Transcription for GTPBP3 Gene

Localization for GTPBP3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for GTPBP3 Gene

Mitochondrion.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for GTPBP3 Gene COMPARTMENTS Subcellular localization image for GTPBP3 gene
Compartment Confidence
mitochondrion 5
nucleus 5
cytosol 2

No data available for Gene Ontology (GO) - Cellular Components for GTPBP3 Gene

Pathways & Interactions for GTPBP3 Gene

genes like me logo Genes that share pathways with GTPBP3: view

Pathways by source for GTPBP3 Gene

Gene Ontology (GO) - Biological Process for GTPBP3 Gene

None

No data available for SIGNOR curated interactions for GTPBP3 Gene

Drugs & Compounds for GTPBP3 Gene

(1) Drugs for GTPBP3 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Guanosine triphosphate Experimental Pharma 0

(1) Additional Compounds for GTPBP3 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with GTPBP3: view

Transcripts for GTPBP3 Gene

Unigene Clusters for GTPBP3 Gene

GTP binding protein 3 (mitochondrial):
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for GTPBP3 Gene

ExUns: 1 ^ 2a · 2b · 2c ^ 3a · 3b · 3c · 3d ^ 4a · 4b · 4c ^ 5a · 5b · 5c ^ 6a · 6b · 6c ^ 7a · 7b · 7c ^ 8 ^ 9a · 9b · 9c ^ 10a · 10b ·
SP1: - - - - -
SP2: - - - - - -
SP3: - - - - -
SP4: - - - - - -
SP5: -
SP6: - - - - - - - - - -
SP7: - - - - - - -
SP8: - - - - - -
SP9: - -
SP10:
SP11: -
SP12: - -
SP13:
SP14: -
SP15:

ExUns: 10c · 10d ^ 11a · 11b · 11c
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:
SP12:
SP13:
SP14:
SP15:

Relevant External Links for GTPBP3 Gene

GeneLoc Exon Structure for
GTPBP3
ECgene alternative splicing isoforms for
GTPBP3

Expression for GTPBP3 Gene

mRNA expression in normal human tissues for GTPBP3 Gene

Protein differential expression in normal tissues from HIPED for GTPBP3 Gene

This gene is overexpressed in Adrenal (34.8) and Peripheral blood mononuclear cells (12.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for GTPBP3 Gene



SOURCE GeneReport for Unigene cluster for GTPBP3 Gene Hs.334885

mRNA Expression by UniProt/SwissProt for GTPBP3 Gene

Q969Y2-GTPB3_HUMAN
Tissue specificity: Ubiquitously expressed.
genes like me logo Genes that share expression patterns with GTPBP3: view

Protein tissue co-expression partners for GTPBP3 Gene

- Elite partner

Primer Products

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA differential expression in normal tissues for GTPBP3 Gene

Orthologs for GTPBP3 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for GTPBP3 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia LOC748414 35
  • 98.55 (n)
  • 97.65 (a)
GTPBP3 36
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia GTPBP3 36
  • 87 (a)
OneToOne
GTPBP3 35
  • 83.49 (n)
  • 85.8 (a)
dog
(Canis familiaris)
Mammalia GTPBP3 35
  • 86.04 (n)
  • 87.2 (a)
GTPBP3 36
  • 82 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Gtpbp3 35
  • 78.73 (n)
  • 81.1 (a)
Gtpbp3 36
  • 81 (a)
OneToOne
Gtpbp3 16
oppossum
(Monodelphis domestica)
Mammalia mdo-mir-7295 36
  • 58 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia GTPBP3 36
  • 62 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Gtpbp3 35
  • 79.07 (n)
  • 80.28 (a)
chicken
(Gallus gallus)
Aves LOC100857447 35
  • 62.79 (n)
  • 53.49 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia gtpbp3 35
  • 56.89 (n)
  • 58.42 (a)
zebrafish
(Danio rerio)
Actinopterygii gtpbp3 35
  • 59.87 (n)
  • 58.6 (a)
gtpbp3 36
  • 55 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP002133 35
  • 52.27 (n)
  • 48.46 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG18528 35
  • 53.07 (n)
  • 47.72 (a)
CG18528 36
  • 44 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea F39B2.7 36
  • 36 (a)
OneToOne
F39B2.7 35
  • 42.71 (n)
  • 37.21 (a)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_ABR063C 35
  • 50.25 (n)
  • 41.94 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes MSS1 35
  • 42.78 (n)
  • 37.63 (a)
MSS1 36
  • 32 (a)
OneToOne
MSS1 38
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0E07657g 35
  • 41.08 (n)
  • 37.28 (a)
thale cress
(Arabidopsis thaliana)
eudicotyledons AT1G78010 35
  • 39.71 (n)
  • 32.4 (a)
bread mold
(Neurospora crassa)
Ascomycetes NCU04149 35
  • 50.28 (n)
  • 42.99 (a)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes mss1 35
  • 42.97 (n)
  • 38.79 (a)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.7936 35
Species with no ortholog for GTPBP3:
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for GTPBP3 Gene

ENSEMBL:
Gene Tree for GTPBP3 (if available)
TreeFam:
Gene Tree for GTPBP3 (if available)

Paralogs for GTPBP3 Gene

No data available for Paralogs for GTPBP3 Gene

Variants for GTPBP3 Gene

Polymorphic Variants from UniProtKB/Swiss-Prot for GTPBP3 Gene

Q969Y2-GTPB3_HUMAN
Val-250 variation may influence aminoglycoside-induced deafness (AID) [MIM: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.

Sequence variations from dbSNP and Humsavar for GTPBP3 Gene

SNP ID Clin Chr 19 pos Sequence Context AA Info Type
rs3810206 - 17,339,207(+) AGGGG(C/T)GCACG reference, missense
rs3745193 - 17,341,172(+) CCAGC(A/G)CCTCC reference, missense
VAR_073298 -
VAR_073299 Combined oxidative phosphorylation deficiency 23 (COXPD23)
VAR_073300 Combined oxidative phosphorylation deficiency 23 (COXPD23)

Structural Variations from Database of Genomic Variants (DGV) for GTPBP3 Gene

Variant ID Type Subtype PubMed ID
dgv3758n71 CNV Loss 21882294
nsv911182 CNV Loss 21882294
nsv470129 CNV Loss 18288195
dgv3760n71 CNV Loss 21882294
nsv911198 CNV Loss 21882294
esv21604 CNV Gain 19812545
nsv833768 CNV Loss 17160897
nsv911201 CNV Loss 21882294

Variation tolerance for GTPBP3 Gene

Residual Variation Intolerance Score: 48.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.18; 69.63% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for GTPBP3 Gene

HapMap Linkage Disequilibrium report
GTPBP3
Human Gene Mutation Database (HGMD)
GTPBP3

Disorders for GTPBP3 Gene

MalaCards: The human disease database

(5) MalaCards diseases for GTPBP3 Gene - From: OMIM, ClinVar, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
combined oxidative phosphorylation deficiency 23
  • combined oxidative phosphorylation deficiency type 23
lactic acidosis
  • acidosis lactic
melas syndrome
  • mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
hypertrophic cardiomyopathy
  • familial hypertrophic cardiomyopathy
cardiomyopathy
  • cardiomyopathies
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

GTPB3_HUMAN
  • Combined oxidative phosphorylation deficiency 23 (COXPD23) [MIM:616198]: An 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. {ECO:0000269 PubMed:25434004}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for GTPBP3

Genetic Association Database (GAD)
GTPBP3
Human Genome Epidemiology (HuGE) Navigator
GTPBP3
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
GTPBP3
genes like me logo Genes that share disorders with GTPBP3: view

No data available for Genatlas for GTPBP3 Gene

Publications for GTPBP3 Gene

  1. Phenotype of non-syndromic deafness associated with the mitochondrial A1555G mutation is modulated by mitochondrial RNA modifying enzymes MTO1 and GTPBP3. (PMID: 15542390) Bykhovskaya Y. … Fischel-Ghodsian N. (Mol. Genet. Metab. 2004) 3 4 23 67
  2. Identification and characterization of mouse GTPBP3 gene encoding a mitochondrial GTP-binding protein involved in tRNA modification. (PMID: 14680828) Li X. … Guan M.X. (Biochem. Biophys. Res. Commun. 2003) 3 23
  3. A human mitochondrial GTP binding protein related to tRNA modification may modulate phenotypic expression of the deafness- associated mitochondrial 12S rRNA mutation. (PMID: 12370316) Li X. … Guan M.-X. (Mol. Cell. Biol. 2002) 3 23
  4. Chordoma-natural history, treatment and prognosis. The Florence Radiotherapy Department experience (1956-1990) and a critical review of the literature. (PMID: 1290633) Magrini S.M. … Biti G. (Acta Oncol 1992) 2 3
  5. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3

Products for GTPBP3 Gene

Sources for GTPBP3 Gene

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