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GTPBP3 (GTP binding protein 3 (mitochondrial))

Identity

Alias_symbol (synonym)MSS1
THDF1
GTPBG3
MTGP1
FLJ14700
Other aliasCOXPD23
HGNC (Hugo) GTPBP3
LocusID (NCBI) 84705
Atlas_Id 64104
Location 19p13.11  [Link to chromosome band 19p13]
Location_base_pair Starts at 17337517 and ends at 17342731 bp from pter ( according to hg38-Dec_2013)

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 


External links

Nomenclature
HGNC (Hugo)GTPBP3   14880
Cards
Entrez_Gene (NCBI)GTPBP3  84705  GTP binding protein 3 (mitochondrial)
AliasesCOXPD23; GTPBG3; MSS1; MTGP1; 
THDF1
GeneCards (Weizmann)GTPBP3
Ensembl hg19 (Hinxton)ENSG00000130299 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000130299 [Gene_View]  chr19:17337517-17342731 [Contig_View]  GTPBP3 [Vega]
ICGC DataPortalENSG00000130299
TCGA cBioPortalGTPBP3
AceView (NCBI)GTPBP3
Genatlas (Paris)GTPBP3
WikiGenes84705
SOURCE (Princeton)GTPBP3
Genetics Home Reference (NIH)GTPBP3
Genomic and cartography
GoldenPath hg38 (UCSC)GTPBP3  -     chr19:17337517-17342731 +  19p13.11   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)GTPBP3  -     19p13.11   [Description]    (hg19-Feb_2009)
EnsemblGTPBP3 - 19p13.11 [CytoView hg19]  GTPBP3 - 19p13.11 [CytoView hg38]
Mapping of homologs : NCBIGTPBP3 [Mapview hg19]  GTPBP3 [Mapview hg38]
OMIM608536   616198   
Gene and transcription
Genbank (Entrez)AF360742 AF360743 AF360744 AK027606 AK091035
RefSeq transcript (Entrez)NM_001128855 NM_001195422 NM_032620 NM_133644
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)GTPBP3
Cluster EST : UnigeneHs.334885 [ NCBI ]
CGAP (NCI)Hs.334885
Alternative Splicing GalleryENSG00000130299
Gene ExpressionGTPBP3 [ NCBI-GEO ]   GTPBP3 [ EBI - ARRAY_EXPRESS ]   GTPBP3 [ SEEK ]   GTPBP3 [ MEM ]
Gene Expression Viewer (FireBrowse)GTPBP3 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)84705
GTEX Portal (Tissue expression)GTPBP3
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ969Y2   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ969Y2  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ969Y2
Splice isoforms : SwissVarQ969Y2
PhosPhoSitePlusQ969Y2
Domaine pattern : Prosite (Expaxy)G_TRME (PS51709)   
Domains : Interpro (EBI)G_TrmE    GTP-bd_TrmE_N    GTP_binding_domain    GTPase_MnmE    MnmE_dom2    MnmE_helical    P-loop_NTPase    Small_GTP-bd_dom    TrmE/GcvT_dom1   
Domain families : Pfam (Sanger)MMR_HSR1 (PF01926)    MnmE_helical (PF12631)    TrmE_N (PF10396)   
Domain families : Pfam (NCBI)pfam01926    pfam12631    pfam10396   
Conserved Domain (NCBI)GTPBP3
DMDM Disease mutations84705
Blocks (Seattle)GTPBP3
SuperfamilyQ969Y2
Human Protein AtlasENSG00000130299
Peptide AtlasQ969Y2
HPRD12255
IPIIPI00464994   IPI00783945   IPI00644024   IPI00921869   IPI00982192   
Protein Interaction databases
DIP (DOE-UCLA)Q969Y2
IntAct (EBI)Q969Y2
FunCoupENSG00000130299
BioGRIDGTPBP3
STRING (EMBL)GTPBP3
ZODIACGTPBP3
Ontologies - Pathways
QuickGOQ969Y2
Ontology : AmiGOGTPase activity  protein binding  GTP binding  mitochondrion  tRNA modification  
Ontology : EGO-EBIGTPase activity  protein binding  GTP binding  mitochondrion  tRNA modification  
NDEx NetworkGTPBP3
Atlas of Cancer Signalling NetworkGTPBP3
Wikipedia pathwaysGTPBP3
Orthology - Evolution
OrthoDB84705
GeneTree (enSembl)ENSG00000130299
Phylogenetic Trees/Animal Genes : TreeFamGTPBP3
HOVERGENQ969Y2
HOGENOMQ969Y2
Homologs : HomoloGeneGTPBP3
Homology/Alignments : Family Browser (UCSC)GTPBP3
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerGTPBP3 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)GTPBP3
dbVarGTPBP3
ClinVarGTPBP3
1000_GenomesGTPBP3 
Exome Variant ServerGTPBP3
ExAC (Exome Aggregation Consortium)GTPBP3 (select the gene name)
Genetic variants : HAPMAP84705
Genomic Variants (DGV)GTPBP3 [DGVbeta]
DECIPHERGTPBP3 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisGTPBP3 
Mutations
ICGC Data PortalGTPBP3 
TCGA Data PortalGTPBP3 
Broad Tumor PortalGTPBP3
OASIS PortalGTPBP3 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICGTPBP3  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDGTPBP3
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
LOVD (Leiden Open Variation Database)MSeqDR-LSDB Mitochondrial Disease Locus Specific Database
BioMutasearch GTPBP3
DgiDB (Drug Gene Interaction Database)GTPBP3
DoCM (Curated mutations)GTPBP3 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)GTPBP3 (select a term)
intoGenGTPBP3
Cancer3DGTPBP3(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM608536    616198   
Orphanet23474   
MedgenGTPBP3
Genetic Testing Registry GTPBP3
NextProtQ969Y2 [Medical]
TSGene84705
GENETestsGTPBP3
Target ValidationGTPBP3
Huge Navigator GTPBP3 [HugePedia]
snp3D : Map Gene to Disease84705
BioCentury BCIQGTPBP3
ClinGenGTPBP3
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD84705
Chemical/Pharm GKB GenePA134883205
Clinical trialGTPBP3
Miscellaneous
canSAR (ICR)GTPBP3 (select the gene name)
Probes
Litterature
PubMed23 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineGTPBP3
EVEXGTPBP3
GoPubMedGTPBP3
iHOPGTPBP3
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Mon Sep 18 13:10:05 CEST 2017

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