• Gene id: 55644

Gene Summary

• Gene Symbol: OSGEP   Gene   UCSC   Ensembl
• Aliases: GAMOS3, GCPL1, KAE1, OSGEP1, PRSMG1, TCS3
• Gene name: O-sialoglycoprotein endopeptidase
• Alternate names: probable tRNA N6-adenosine threonylcarbamoyltransferase, N6-L-threonylcarbamoyladenine synthase, hOSGEP, probable O-sialoglycoprotein endopeptidase, probable tRNA threonylcarbamoyladenosine biosynthesis protein OSGEP, t(6)A synthase, t(6)A37 threonylcarbamoylad,
• Gene location: 14q11.2 (20454811: 20446400)     Exons: 11     NC_000014.9
• OMIM: 611652

Protein Summary

• Protein general information: Q9NPF4  
  • Name: Probable tRNA N6 adenosine threonylcarbamoyltransferase (EC 2.3.1.234) (N6 L threonylcarbamoyladenine synthase) (t(6)A synthase) (O sialoglycoprotein endopeptidase) (hOSGEP) (t(6)A37 threonylcarbamoyladenosine biosynthesis protein OSGEP) (tRNA threonylcar
  • Length: 335  
  • Mass: 36427
  • Tissue specificity: Widely expressed at low level. Expressed in heart, placenta, liver, kidney, lung, brain, skeletal muscle and pancreas. {ECO
• Sequence:

  MPAVLGFEGSANKIGVGVVRDGKVLANPRRTYVTPPGTGFLPGDTARHHRAVILDLLQEALTESGLTSQDIDCIA
  YTKGPGMGAPLVSVAVVARTVAQLWNKPLVGVNHCIGHIEMGRLITGATSPTVLYVSGGNTQVIAYSEHRYRIFG
  ETIDIAVGNCLDRFARVLKISNDPSPGYNIEQMAKRGKKLVELPYTVKGMDVSFSGILSFIEDVAHRMLATGECT
  PEDLCFSLQETVFAMLVEITERAMAHCGSQEALIVGGVGCNVRLQEMMATMCQERGARLFATDERFCIDNGAMIA
  QAGWEMFRAGHRTPLSDSGVTQRYRTDEVEVTWRD

• Structural information:
  • Interpro: IPR000905  IPR034680  IPR017861  IPR017860  
  • Prosite: PS01016
  • PDB: 6GWJ
  • PDBsum: 6GWJ
  • STRING: ENSP00000206542
• Other Databases: GeneCards:  OSGEP  Malacards:  OSGEP

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0000408	EKC/KEOPS complex	IBA	cellular component
GO:0000408	EKC/KEOPS complex	IDA	cellular component
GO:0000408	EKC/KEOPS complex	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0002949	tRNA threonylcarbamoyladenosine modification	IDA	biological process
GO:0005634	nucleus	IDA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0000408	EKC/KEOPS complex	IEA	cellular component
GO:0002949	tRNA threonylcarbamoyladenosine modification	IEA	biological process
GO:0046872	metal ion binding	IEA	molecular function
GO:0016740	transferase activity	IEA	molecular function
GO:0016746	transferase activity, transferring acyl groups	IEA	molecular function
GO:0008033	tRNA processing	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0061711	N(6)-L-threonylcarbamoyladenine synthase activity	IEA	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:0005634	nucleus	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0005886	plasma membrane	IDA	cellular component
GO:0016607	nuclear speck	IDA	cellular component
GO:0016747	transferase activity, transferring acyl groups other than amino-acyl groups	IEA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0002949	tRNA threonylcarbamoyladenosine modification	IEA	biological process
GO:0000408	EKC/KEOPS complex	IBA	cellular component
GO:0000408	EKC/KEOPS complex	IDA	cellular component
GO:0000408	EKC/KEOPS complex	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0002949	tRNA threonylcarbamoyladenosine modification	IDA	biological process
GO:0005634	nucleus	IDA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0000408	EKC/KEOPS complex	IEA	cellular component
GO:0002949	tRNA threonylcarbamoyladenosine modification	IEA	biological process
GO:0046872	metal ion binding	IEA	molecular function
GO:0016740	transferase activity	IEA	molecular function
GO:0016746	transferase activity, transferring acyl groups	IEA	molecular function
GO:0008033	tRNA processing	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0061711	N(6)-L-threonylcarbamoyladenine synthase activity	IEA	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:0005634	nucleus	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0005886	plasma membrane	IDA	cellular component
GO:0016607	nuclear speck	IDA	cellular component
GO:0016747	transferase activity, transferring acyl groups other than amino-acyl groups	IEA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0002949	tRNA threonylcarbamoyladenosine modification	IEA	biological process

Diseases

Associated diseases	References
Galloway-Mowat syndrome	KEGG:H01722
Galloway-Mowat syndrome	KEGG:H01722
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Unexplained infertility	MIK: 25753583

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray