• Gene id: 84705

Gene Summary

• Gene Symbol: GTPBP3   Gene   UCSC   Ensembl
• Aliases: COXPD23, GTPBG3, MSS1, MTGP1, THDF1
• Gene name: GTP binding protein 3, mitochondrial
• Alternate names: tRNA modification GTPase GTPBP3, mitochondrial, mitochondrial GTP-binding protein 1,
• Gene location: 19p13.11 (17334981: 17342730)     Exons: 17     NC_000019.10
• Gene summary(Entrez): 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 diseas
• OMIM: 608536

Protein Summary

• Protein general information: Q969Y2  
  • Name: tRNA modification GTPase GTPBP3, mitochondrial (GTP binding protein 3) (Mitochondrial GTP binding protein 1)
  • Length: 492  
  • Mass: 52058
  • Tissue specificity: Ubiquitously expressed. {ECO
• Sequence:

  MWRGLWTLAAQAARGPRRLCTRRSSGAPAPGSGATIFALSSGQGRCGIAVIRTSGPASGHALRILTAPRDLPLAR
  HASLRLLSDPRSGEPLDRALVLWFPGPQSFTGEDCVEFHVHGGPAVVSGVLQALGSVPGLRPAEAGEFTRRAFAN
  GKLNLTEVEGLADLIHAETEAQRRQALRQLDGELGHLCRGWAETLTKALAHVEAYIDFGEDDNLEEGVLEQADIE
  VRALQVALGAHLRDARRGQRLRSGVHVVVTGPPNAGKSSLVNLLSRKPVSIVSPEPGTTRDVLETPVDLAGFPVL
  LSDTAGLREGVGPVEQEGVRRARERLEQADLILAMLDASDLASPSSCNFLATVVASVGAQSPSDSSQRLLLVLNK
  SDLLSPEGPGPGPDLPPHLLLSCLTGEGLDGLLEALRKELAAVCGDPSTDPPLLTRARHQHHLQGCLDALGHYKQ
  SKDLALAAEALRVARGHLTRLTGGGGTEEILDIIFQDFCVGK

• Structural information:
  • Protein Domains: (249..41-)
    (/note="TrmE-type-G")
  • Interpro: IPR031168  IPR018948  IPR006073  IPR004520  IPR027368   IPR025867  IPR027417  IPR005225  IPR027266  
  • Prosite: PS51709
  • CDD: cd04164
  • STRING: ENSP00000351644
• Other Databases: GeneCards:  GTPBP3  Malacards:  GTPBP3

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0030488	tRNA methylation	IBA	biological process
GO:0002098	tRNA wobble uridine modification	IBA	biological process
GO:0005737	cytoplasm	IBA	cellular component
GO:0005739	mitochondrion	IBA	cellular component
GO:0003924	GTPase activity	IEA	molecular function
GO:0005525	GTP binding	IEA	molecular function
GO:0006400	tRNA modification	IEA	biological process
GO:0008033	tRNA processing	IEA	biological process
GO:0005525	GTP binding	IEA	molecular function
GO:0000166	nucleotide binding	IEA	molecular function
GO:0005739	mitochondrion	IEA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005739	mitochondrion	IEA	cellular component
GO:0005739	mitochondrion	IDA	cellular component

Diseases

Associated diseases	References
Combined oxidative phosphorylation deficiency	KEGG:H00891
Combined oxidative phosphorylation deficiency	KEGG:H00891
Cryptorchidism	MIK: 28606200
Spermatogenic defects	MIK: 31037746
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
31037746	Spermatogenic defects			28 men with azoospermia	Male infertility	Microarray