• Gene id: 8225

Gene Summary

• Gene Symbol: GTPBP6   Gene   UCSC   Ensembl
• Aliases: PGPL
• Gene name: GTP binding protein 6 (putative)
• Alternate names: putative GTP-binding protein 6,
• Gene location: Xp22.33 and Yp11.31 (318818: 303351)     Exons: 12     NC_000023.11
• Gene summary(Entrez): This gene encodes a GTP binding protein and is located in the pseudoautosomal region (PAR) at the end of the short arms of the X and Y chromosomes. [provided by RefSeq, Nov 2011]
• OMIM: 604639

Protein Summary

• Protein general information: O43824  
  • Name: Putative GTP binding protein 6 (Pseudoautosomal GTP binding protein like)
  • Length: 516  
  • Mass: 56897
  • Tissue specificity: Ubiquitously expressed. {ECO
• Sequence:

  MWALRAAVRPGLRLSRVGRGRSAPRAAAPSCPARALAAVGRRSPGNLEGPWGGGRGLRADGGRSRTGDDEEEPED
  ADENAEEELLRGEPLLPAGTQRVCLVHPDVKWGPGKSQMTRAEWQVAEATALVHTLDGWSVVQTMVVSTKTPDRK
  LIFGKGNFEHLTEKIRGSPDITCVFLNVERMAAPTKKELEAAWGVEVFDRFTVVLHIFRCNARTKEARLQVALAE
  MPLHRSNLKRDVAHLYRGVGSRYIMGSGESFMQLQQRLLREKEAKIRKALDRLRKKRHLLRRQRTRREFPVISVV
  GYTNCGKTTLIKALTGDAAIQPRDQLFATLDVTAHAGTLPSRMTVLYVDTIGFLSQLPHGLIESFSATLEDVAHS
  DLILHVRDVSHPEAELQKCSVLSTLRGLQLPAPLLDSMVEVHNKVDLVPGYSPTEPNVVPVSALRGHGLQELKAE
  LDAAVLKATGRQILTLRVRLAGAQLSWLYKEATVQEVDVIPEDGAADVRVIISNSAYGKFRKLFPG

• Structural information:
  • Protein Domains: (295..45-)
    (/note="Hflx-type-G)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU01042"-)
  • Interpro: IPR030394  IPR032305  IPR006073  IPR016496  IPR025121   IPR042108  IPR027417  
  • Prosite: PS51705
  • CDD: cd01878
  • STRING: ENSP00000316598
• Other Databases: GeneCards:  GTPBP6  Malacards:  GTPBP6

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005737	cytoplasm	IBA	cellular component
GO:0043022	ribosome binding	IBA	molecular function
GO:0005525	GTP binding	IEA	molecular function
GO:0046872	metal ion binding	IEA	molecular function
GO:0005525	GTP binding	IEA	molecular function
GO:0000166	nucleotide binding	IEA	molecular function
GO:0005525	GTP binding	TAS	molecular function

Diseases

Associated diseases	References
Spermatogenic defects	MIK: 31037746

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
31037746	Spermatogenic defects			16 (1 control, 15 cases)	Male infertility	GSE6023 analyzed using GEO2R