• Gene id: 54974

Gene Summary

• Gene Symbol: THG1L   Gene   UCSC   Ensembl
• Aliases: ICF45, IHG-1, hTHG1
• Gene name: tRNA-histidine guanylyltransferase 1 like
• Alternate names: probable tRNA(His) guanylyltransferase, induced by high glucose-1, interphase cytoplasmic foci protein 45,
• Gene location: 5q33.3 (157731388: 157741447)     Exons: 8     NC_000005.10
• Gene summary(Entrez): The protein encoded by this gene is a mitochondrial protein that is induced by high levels of glucose and is associated with diabetic nephropathy. The encoded protein appears to increase mitochondrial biogenesis, which could lead to renal fibrosis. Anothe
• OMIM: 0

Protein Summary

• Protein general information: Q9NWX6  
  • Name: Probable tRNA(His) guanylyltransferase (EC 2.7.7.79) (Interphase cytoplasmic foci protein 45) (tRNA histidine guanylyltransferase)
  • Length: 298  
  • Mass: 34,831
• Sequence:

  MWGACKVKVHDSLATISITLRRYLRLGATMAKSKFEYVRDFEADDTCLAHCWVVVRLDGRNFHRFAEKHNFAKPN
  DSRALQLMTKCAQTVMEELEDIVIAYGQSDEYSFVFKRKTNWFKRRASKFMTHVASQFASSYVFYWRDYFEDQPL
  LYPPGFDGRVVVYPSNQTLKDYLSWRQADCHINNLYNTVFWALIQQSGLTPVQAQGRLQGTLAADKNEILFSEFN
  INYNNELPMYRKGTVLIWQKVDEVMTKEIKLPTEMEGKKMAVTRTRTKPVPLHCDIIGDAFWKEHPEILDEDS

• Structural information:
  • Interpro: IPR025845  IPR024956  IPR007537  IPR038469  
  • PDB: 3OTB 3OTC 3OTD 3OTE
  • PDBsum: 3OTB 3OTC 3OTD 3OTE
  • DIP: 59479
  • STRING: ENSP00000231198
• Other Databases: GeneCards:  THG1L  Malacards:  THG1L

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0000049	tRNA binding	TAS	molecular function
GO:0000287	magnesium ion binding	IDA	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005524	ATP binding	IDA	molecular function
GO:0005525	GTP binding	IDA	molecular function
GO:0005739	mitochondrion	IDA	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0006400	tRNA modification	ISS	biological process
GO:0006400	tRNA modification	TAS	biological process
GO:0008033	tRNA processing	IDA	biological process
GO:0008193	tRNA guanylyltransferase activity	ISS	molecular function
GO:0008193	tRNA guanylyltransferase activity	IDA	molecular function
GO:0016779	nucleotidyltransferase activity	EXP	molecular function
GO:0042802	identical protein binding	IPI	molecular function
GO:0051289	protein homotetramerization	IDA	biological process
GO:0051289	protein homotetramerization	IPI	biological process
GO:0000049	tRNA binding	TAS	molecular function
GO:0000166	nucleotide binding	IEA	molecular function
GO:0000287	magnesium ion binding	IEA	molecular function
GO:0000287	magnesium ion binding	IDA	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005524	ATP binding	IDA	molecular function
GO:0005525	GTP binding	IEA	molecular function
GO:0005525	GTP binding	IDA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005739	mitochondrion	IDA	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0006400	tRNA modification	IEA	biological process
GO:0006400	tRNA modification	ISS	biological process
GO:0006400	tRNA modification	TAS	biological process
GO:0008033	tRNA processing	IEA	biological process
GO:0008033	tRNA processing	IDA	biological process
GO:0008193	tRNA guanylyltransferase activity	IEA	molecular function
GO:0008193	tRNA guanylyltransferase activity	ISS	molecular function
GO:0008193	tRNA guanylyltransferase activity	IDA	molecular function
GO:0016740	transferase activity	IEA	molecular function
GO:0016779	nucleotidyltransferase activity	IEA	molecular function
GO:0016779	nucleotidyltransferase activity	EXP	molecular function
GO:0042802	identical protein binding	IPI	molecular function
GO:0046872	metal ion binding	IEA	molecular function
GO:0051289	protein homotetramerization	IDA	biological process
GO:0051289	protein homotetramerization	IPI	biological process
GO:0000049	tRNA binding	TAS	molecular function
GO:0000287	magnesium ion binding	IDA	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005524	ATP binding	IDA	molecular function
GO:0005525	GTP binding	IDA	molecular function
GO:0005739	mitochondrion	IDA	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0006400	tRNA modification	ISS	biological process
GO:0006400	tRNA modification	TAS	biological process
GO:0008033	tRNA processing	IDA	biological process
GO:0008193	tRNA guanylyltransferase activity	ISS	molecular function
GO:0008193	tRNA guanylyltransferase activity	IDA	molecular function
GO:0016779	nucleotidyltransferase activity	EXP	molecular function
GO:0042802	identical protein binding	IPI	molecular function
GO:0051289	protein homotetramerization	IDA	biological process
GO:0051289	protein homotetramerization	IPI	biological process

Diseases

Associated diseases	References
Asthenozoospermia	MIK: 24931671
Asthenospermia	MIK: 24931671
Hypospermatogenesis	MIK: 28361989

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
24931671	Asthenospermia	COXII gene (m.8021 G/A), tRNA(His) gene (m.12187C>A)	Tunisia n	64 (31 asthenospermia, 33 normospermic infertile men)	Male infertility	cytochrome oxidase I cytochrome oxidase II cytochrome oxidase III adenosine triphosphate synthase6 ATP synthase8 cytochrome b and tRNA(His)
28361989	Hypospermatogenesis			6 (3 controls, 3 Klienfelter syndrome	Male infertility	Microarray