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GTPBP3 GTP binding protein 3, mitochondrial [ Homo sapiens (human) ]

Gene ID: 84705, updated on 2-Oct-2018

Summary

Official Symbol
GTPBP3provided by HGNC
Official Full Name
GTP binding protein 3, mitochondrialprovided by HGNC
Primary source
HGNC:HGNC:14880
See related
Ensembl:ENSG00000130299 MIM:608536; Vega:OTTHUMG00000182766
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
MSS1; MTGP1; THDF1; GTPBG3; COXPD23
Summary
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]
Expression
Ubiquitous expression in spleen (RPKM 3.4), skin (RPKM 3.3) and 25 other tissues See more
Orthologs

Genomic context

See GTPBP3 in Genome Data Viewer
Location:
19p13.11
Exon count:
10
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 19 NC_000019.10 (17334982..17342731)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (17445735..17453540)

Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene abhydrolase domain containing 8 Neighboring gene mitochondrial ribosomal protein L34 Neighboring gene DET1 and DDB1 associated 1 Neighboring gene anoctamin 8 Neighboring gene plasmalemma vesicle associated protein Neighboring gene uncharacterized LOC105372298

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Jun 15 11:32:44 2016

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Pathways from BioSystems

  • Gene Expression, organism-specific biosystem (from REACTOME)
    Gene Expression, organism-specific biosystemGene Expression covers the pathways by which genomic DNA is transcribed to yield RNA, the regulation of these transcription processes, and the pathways by which newly-made RNA Transcripts are process...
  • tRNA modification in the mitochondrion, organism-specific biosystem (from REACTOME)
    tRNA modification in the mitochondrion, organism-specific biosystemThe 22 tRNAs encoded by the mitochondrial genome are modified in the mitochondrial matrix by enzymes encoded in the nucleus and imported into mitochondria (reviewed in Suzuki et al. 2011, Salinas-Gie...
  • tRNA processing, organism-specific biosystem (from REACTOME)
    tRNA processing, organism-specific biosystemGenes encoding transfer RNAs (tRNAs) are transcribed by RNA polymerase III in the nucleus and by mitochondrial RNA polymerase in the mitochondrion.In the nucleus transcription reactions produce precu...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ14700, FLJ17836

Gene Ontology Provided by GOA

Function Evidence Code Pubs
GTP binding IEA
Inferred from Electronic Annotation
more info
 
GTPase activity IEA
Inferred from Electronic Annotation
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
tRNA methylation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
tRNA wobble uridine modification IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
mitochondrion IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
mitochondrion IDA
Inferred from Direct Assay
more info
 

General protein information

Preferred Names
tRNA modification GTPase GTPBP3, mitochondrial
Names
mitochondrial GTP-binding protein 1

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_027824.1 RefSeqGene

    Range
    5001..12750
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001128855.2NP_001122327.1  tRNA modification GTPase GTPBP3, mitochondrial isoform III

    Status: REVIEWED

    Description
    Transcript Variant: This variant (III) lacks an in-frame segment and uses an alternate, in-frame splice site in the CDS, compared to variant IV. The resulting protein (isoform III) is shorter than isoform IV.
    Source sequence(s)
    AF360743, AK298485, BC019261, DA044241
    Consensus CDS
    CCDS59364.1
    UniProtKB/Swiss-Prot
    Q969Y2
    UniProtKB/TrEMBL
    B7Z563
    Related
    ENSP00000473150.1, OTTHUMP00000270156, ENST00000600625.5, OTTHUMT00000463626
    Conserved Domains (3) summary
    cd04164
    Location:247395
    trmE; trmE is a tRNA modification GTPase
    PRK05291
    Location:35471
    trmE; tRNA modification GTPase TrmE; Reviewed
    pfam10396
    Location:35152
    TrmE_N; GTP-binding protein TrmE N-terminus
  2. NM_001195422.1NP_001182351.1  tRNA modification GTPase GTPBP3, mitochondrial isoform VII

    Status: REVIEWED

    Description
    Transcript Variant: This variant (VII) differs in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at an alternate start codon, compared to variant IV. The encoded isoform (VII) has a distinct N-terminus and is shorter than isoform IV.
    Source sequence(s)
    AK297953, AK298485, BC019261, DC339966
    Consensus CDS
    CCDS56088.1
    UniProtKB/Swiss-Prot
    Q969Y2
    UniProtKB/TrEMBL
    B7Z563
    Related
    ENSP00000354598.4, OTTHUMP00000270104, ENST00000361619.9, OTTHUMT00000463523
    Conserved Domains (3) summary
    cd04164
    Location:269438
    trmE; trmE is a tRNA modification GTPase
    PRK05291
    Location:57514
    trmE; tRNA modification GTPase TrmE; Reviewed
    pfam10396
    Location:57174
    TrmE_N; GTP-binding protein TrmE N-terminus
  3. NM_032620.3NP_116009.2  tRNA modification GTPase GTPBP3, mitochondrial isoform V

    See identical proteins and their annotated locations for NP_116009.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (V) lacks an in-frame segment in the CDS, compared to variant IV. The resulting protein (isoform V) is shorter than isoform IV. This variant is also referred to as isoform I in PubMed IDs 12370316 and 18852288.
    Source sequence(s)
    AY078988, BC019261, DA044241
    Consensus CDS
    CCDS32951.1
    UniProtKB/Swiss-Prot
    Q969Y2
    Related
    ENSP00000313818.7, OTTHUMP00000270154, ENST00000324894.12, OTTHUMT00000463624
    Conserved Domains (3) summary
    cd04164
    Location:247416
    trmE; trmE is a tRNA modification GTPase
    PRK05291
    Location:35492
    trmE; tRNA modification GTPase TrmE; Reviewed
    pfam10396
    Location:35152
    TrmE_N; GTP-binding protein TrmE N-terminus
  4. NM_133644.3NP_598399.2  tRNA modification GTPase GTPBP3, mitochondrial isoform IV

    Status: REVIEWED

    Description
    Transcript Variant: This variant (IV) represents the longest transcript and it encodes the longest protein (isoform IV). This variant is also referred to as isoform V in PubMed IDs 12370316 and 18852288.
    Source sequence(s)
    AK298485, AY078987, BC019261, DA044241
    Consensus CDS
    CCDS32950.1
    UniProtKB/Swiss-Prot
    Q969Y2
    UniProtKB/TrEMBL
    B7Z563
    Related
    ENSP00000351644.6, OTTHUMP00000270155, ENST00000358792.11, OTTHUMT00000463625
    Conserved Domains (3) summary
    cd04164
    Location:279448
    trmE; trmE is a tRNA modification GTPase
    PRK05291
    Location:35524
    trmE; tRNA modification GTPase TrmE; Reviewed
    pfam10396
    Location:35152
    TrmE_N; GTP-binding protein TrmE N-terminus

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000019.10 Reference GRCh38.p12 Primary Assembly

    Range
    17334982..17342731
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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