• Gene id: 96764

Gene Summary

• Gene Symbol: TGS1   Gene   UCSC   Ensembl
• Aliases: NCOA6IP, PIMT, PIPMT
• Gene name: trimethylguanosine synthase 1
• Alternate names: trimethylguanosine synthase, CLL-associated antigen KW-2, PRIP-interacting protein with methyltransferase motif, cap-specific guanine-N2 methyltransferase, hepatocellular carcinoma-associated antigen 137, nuclear receptor coactivator 6-interacting protein,
• Gene location: 8q12.1 (55773445: 55826444)     Exons: 13     NC_000008.11
• OMIM: 606461

Protein Summary

• Protein general information: Q96RS0  
  • Name: Trimethylguanosine synthase (EC 2.1.1. ) (CLL associated antigen KW 2) (Cap specific guanine N2 methyltransferase) (Hepatocellular carcinoma associated antigen 137) (Nuclear receptor coactivator 6 interacting protein) (PRIP interacting protein with methyl
  • Length: 853  
  • Mass: 96620
  • Tissue specificity: Ubiquitously expressed. High expression in heart, skeletal muscle, kidney, liver and placenta. {ECO
• Sequence:

  MCCEKWSRVAEMFLFIEEREDCKILCLCSRAFVEDRKLYNLGLKGYYIRDSGNNSGDQATEEEEGGYSCGTAESH
  DSKGIGLDESELDSEAELMRSMGLPLQFGRITAHKDFEVSMNTRNKVKIKKKKHQKKYLDEIVQESWRKEYEEDD
  ILASDDPSSIEQYENTRTYELQSKKDTETENPPVENTLSPKLEITEKWEKYWNEYGGGLLWQSWQEKHPGQALSS
  EPWNFPDTKEEWEQHYSQLYWYYLEQFQYWEAQGWTFDASQSCDTDTYTSKTEADDKNDEKCMKVDLVSFPSSPI
  MVDNDSSGTSDKDHSEILDGISNIKLNSEEVTQSQLDSCTSHDGHQQLSEVSSKRECPASGQSEPRNGGTNEESN
  SSGNTNTDPPAEDSQKSSGANTSKDRPHASGTDGDESEEDPPEHKPSKLKRSHELDIDENPASDFDDSGSLLGFK
  YGSGQKYGGIPNFSHRQVRYLEKNVKLKSKYLDMRRQIKMKNKHIFFTKESEKPFFKKSKILSKVEKFLTWVNKP
  MDEEASQESSSHDNVHDASTSSDSEEQDMSVKKGDDLLETNNPEPEKCQSVSSAGELETENYERDSLLATVPDEQ
  DCVTQEVPDSRQAETEAEVKKKKNKKKNKKVNGLPPEIAAVPELAKYWAQRYRLFSRFDDGIKLDREGWFSVTPE
  KIAEHIAGRVSQSFKCDVVVDAFCGVGGNTIQFALTGMRVIAIDIDPVKIALARNNAEVYGIADKIEFICGDFLL
  LASFLKADVVFLSPPWGGPDYATAETFDIRTMMSPDGFEIFRLSKKITNNIVYFLPRNADIDQVASLAGPGGQVE
  IEQNFLNNKLKTITAYFGDLIRRPASET

• Structural information:
  • Interpro: IPR019012  IPR029063  
  • PDB: 3EGI 3GDH
  • PDBsum: 3EGI 3GDH
  • DIP: 49970
  • STRING: ENSP00000260129
• Other Databases: GeneCards:  TGS1  Malacards:  TGS1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005634	nucleus	IBA	cellular component
GO:0036261	7-methylguanosine cap hypermethylation	IBA	biological process
GO:0071164	RNA trimethylguanosine synthase activity	IBA	molecular function
GO:0001510	RNA methylation	IEA	biological process
GO:0009452	7-methylguanosine RNA capping	IEA	biological process
GO:0008168	methyltransferase activity	IEA	molecular function
GO:0016740	transferase activity	IEA	molecular function
GO:0032259	methylation	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0008168	methyltransferase activity	IEA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0008173	RNA methyltransferase activity	TAS	molecular function
GO:0000387	spliceosomal snRNP assembly	TAS	biological process
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0019216	regulation of lipid metabolic process	TAS	biological process
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:0071164	RNA trimethylguanosine synthase activity	IDA	molecular function
GO:0022613	ribonucleoprotein complex biogenesis	IC	biological process
GO:0030532	small nuclear ribonucleoprotein complex	IC	cellular component
GO:0036261	7-methylguanosine cap hypermethylation	IDA	biological process
GO:0005730	nucleolus	IEA	cellular component
GO:0015030	Cajal body	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0005615	extracellular space	HDA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa03013	RNA transport

Diseases

Associated diseases	References
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)