• Gene id: 83707

Gene Summary

• Gene Symbol: TRPT1   Gene   UCSC   Ensembl
• Gene name: tRNA phosphotransferase 1
• Alternate names: tRNA 2'-phosphotransferase 1, tRNA splicing 2' phosphotransferase 1,
• Gene location: 11q13.1 (64226253: 64223798)     Exons: 8     NC_000011.10
• OMIM: 610470

Protein Summary

• Protein general information: Q86TN4  
  • Name: tRNA 2' phosphotransferase 1 (EC 2.7.1.160)
  • Length: 253  
  • Mass: 27742
  • Tissue specificity: Widely expressed. Weakly or not expressed in lung, spleen, small intestine and peripheral blood leukocytes. {ECO
• Sequence:

  MNFSGGGRQEAAGSRGRRAPRPREQDRDVQLSKALSYALRHGALKLGLPMGADGFVPLGTLLQLPQFRGFSAEDV
  QRVVDTNRKQRFALQLGDPSTGLLIRANQGHSLQVPKLELMPLETPQALPPMLVHGTFWKHWPSILLKGLSCQGR
  THIHLAPGLPGDPGIISGMRSHCEIAVFIDGPLALADGIPFFRSANGVILTPGNTDGFLLPKYFKEALQLRPTRK
  PLSLAGDEETECQSSPKHSSRERRRIQQ

• Structural information:
  • Interpro: IPR002745  IPR042081  IPR042080  
  • STRING: ENSP00000378050
• Other Databases: GeneCards:  TRPT1  Malacards:  TRPT1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0008033	tRNA processing	IBA	biological process
GO:0006388	tRNA splicing, via endonucleolytic cleavage and ligation	IBA	biological process
GO:0000215	tRNA 2'-phosphotransferase activity	IBA	molecular function
GO:0003950	NAD+ ADP-ribosyltransferase activity	IEA	molecular function
GO:0008033	tRNA processing	IEA	biological process
GO:0016740	transferase activity	IEA	molecular function
GO:0000215	tRNA 2'-phosphotransferase activity	IEA	molecular function
GO:0045859	regulation of protein kinase activity	IEA	biological process
GO:0006388	tRNA splicing, via endonucleolytic cleavage and ligation	IEA	biological process
GO:0000215	tRNA 2'-phosphotransferase activity	IEA	molecular function
GO:0003674	molecular_function	ND	molecular function
GO:0008150	biological_process	ND	biological process

Diseases

Associated diseases	References
Male factor infertility	MIK: 29961538
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
29961538	Male factor infertility			318 (128 couples presenting with OAT (MF) and 118 maternal age-matched control (no MF) subjects undergoing infertility treatment, 72 surplus cryopreserved blastocysts)	Male infertility	RNA-seq