• Gene id: 9567

Gene Summary

• Gene Symbol: GTPBP1   Gene   UCSC   Ensembl
• Aliases: GP-1, GP1, HSPC018
• Gene name: GTP binding protein 1
• Alternate names: GTP-binding protein 1, G-protein 1,
• Gene location: 22q13.1 (136095288: 136006536)     Exons: 7     NC_000009.12
• Gene summary(Entrez): This gene is upregulated by interferon-gamma and encodes a protein that is a member of the AGP11/GTPBP1 family of GTP-binding proteins. A structurally similar protein has been found in mouse, where disruption of the gene for that protein had no observable
• OMIM: 602245

Protein Summary

• Protein general information: O00178  
  • Name: GTP binding protein 1 (G protein 1) (GP 1) (GP1)
  • Length: 669  
  • Mass: 72454
• Sequence:

  MATERSRSAMDSPVPASMFAPEPSSPGAARAAAAAARLHGGFDSDCSEDGEALNGEPELDLTSKLVLVSPTSEQY
  DSLLRQMWERMDEGCGETIYVIGQGSDGTEYGLSEADMEASYATVKSMAEQIEADVILLRERQEAGGRVRDYLVR
  KRVGDNDFLEVRVAVVGNVDAGKSTLLGVLTHGELDNGRGFARQKLFRHKHEIESGRTSSVGNDILGFDSEGNVV
  NKPDSHGGSLEWTKICEKSTKVITFIDLAGHEKYLKTTVFGMTGHLPDFCMLMVGSNAGIVGMTKEHLGLALALN
  VPVFVVVTKIDMCPANILQETLKLLQRLLKSPGCRKIPVLVQSKDDVIVTASNFSSERMCPIFQISNVTGENLDL
  LKMFLNLLSPRTSYREEEPAEFQIDDTYSVPGVGTVVSGTTLRGLIKLNDTLLLGPDPLGNFLSIAVKSIHRKRM
  PVKEVRGGQTASFALKKIKRSSIRKGMVMVSPRLNPQASWEFEAEILVLHHPTTISPRYQAMVHCGSIRQTATIL
  SMDKDCLRTGDKATVHFRFIKTPEYLHIDQRLVFREGRTKAVGTITKLLQTTNNSPMNSKPQQIKMQSTKKGPLT
  KRDEGGPSGGPAVGAPPPGDEASSVGAGQPAASSNLQPQPKPSSGGRRRGGQRHKVKSQGACVTPASGC

• Structural information:
  • Protein Domains: (158..38-)
    (/note="tr-type-G)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU01059"-)
  • Interpro: IPR039263  IPR035531  IPR027417  IPR000795  IPR009000   IPR009001  
  • Prosite: PS51722
  • CDD: cd04165
  • STRING: ENSP00000216044
• Other Databases: GeneCards:  GTPBP1  Malacards:  GTPBP1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0003746	translation elongation factor activity	IBA	molecular function
GO:0006414	translational elongation	IBA	biological process
GO:0061014	positive regulation of mRNA catabolic process	ISS	biological process
GO:0046039	GTP metabolic process	ISS	biological process
GO:0005829	cytosol	ISS	cellular component
GO:0003924	GTPase activity	ISS	molecular function
GO:0000177	cytoplasmic exosome (RNase complex)	ISS	cellular component
GO:0003924	GTPase activity	IEA	molecular function
GO:0005525	GTP binding	IEA	molecular function
GO:0005525	GTP binding	IEA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0000166	nucleotide binding	IEA	molecular function
GO:0005525	GTP binding	TAS	molecular function
GO:0007165	signal transduction	TAS	biological process
GO:0006955	immune response	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005829	cytosol	IEA	cellular component
GO:0003924	GTPase activity	IEA	molecular function
GO:0000177	cytoplasmic exosome (RNase complex)	IEA	cellular component
GO:0061014	positive regulation of mRNA catabolic process	IEA	biological process
GO:0046039	GTP metabolic process	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0003723	RNA binding	HDA	molecular function
GO:0016020	membrane	HDA	cellular component

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200
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
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq