Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	54974
Gene name	TRNA-histidine guanylyltransferase 1 like
Gene symbol	THG1L
Synonyms (NCBI Gene)	ICF45IHG-1IHG1SCAR28THG1hTHG1
Chromosome	5
Chromosome location	5q33.3
Summary	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

Show/Hide all (1)

SNP ID	Visualize variation	Clinical significance	Consequence
rs201920319	T>C	Pathogenic, not-provided	Coding sequence variant, missense variant, 5 prime UTR variant, genic upstream transcript variant, upstream transcript variant

Show/Hide all (21)

miRTarBase ID	miRNA	Experiments	Reference
MIRT039970	hsa-miR-615-3p	CLASH	23622248
MIRT641719	hsa-miR-590-3p	HITS-CLIP	23824327
MIRT641718	hsa-miR-4735-5p	HITS-CLIP	23824327
MIRT641717	hsa-miR-138-2-3p	HITS-CLIP	23824327
MIRT641716	hsa-miR-4775	HITS-CLIP	23824327
MIRT641715	hsa-miR-7159-3p	HITS-CLIP	23824327
MIRT641714	hsa-miR-4482-3p	HITS-CLIP	23824327
MIRT641719	hsa-miR-590-3p	HITS-CLIP	23824327
MIRT641718	hsa-miR-4735-5p	HITS-CLIP	23824327
MIRT641717	hsa-miR-138-2-3p	HITS-CLIP	23824327
MIRT641716	hsa-miR-4775	HITS-CLIP	23824327
MIRT641715	hsa-miR-7159-3p	HITS-CLIP	23824327
MIRT641714	hsa-miR-4482-3p	HITS-CLIP	23824327
MIRT1423377	hsa-miR-4662a-3p	CLIP-seq
MIRT1423378	hsa-miR-4720-3p	CLIP-seq
MIRT1423379	hsa-miR-4797-5p	CLIP-seq
MIRT1423380	hsa-miR-4804-3p	CLIP-seq
MIRT2348659	hsa-miR-150	CLIP-seq
MIRT2348660	hsa-miR-339-5p	CLIP-seq
MIRT1423377	hsa-miR-4662a-3p	CLIP-seq
MIRT2348661	hsa-miR-670	CLIP-seq

Show/Hide all (37)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000049	Function	TRNA binding	TAS	21059936
GO:0000166	Function	Nucleotide binding	IEA
GO:0000287	Function	Magnesium ion binding	IDA	21059936
GO:0000287	Function	Magnesium ion binding	IEA
GO:0005085	Function	Guanyl-nucleotide exchange factor activity	IDA	25008184
GO:0005515	Function	Protein binding	IPI	21044950, 25008184, 25416956, 32296183
GO:0005524	Function	ATP binding	IDA	21059936
GO:0005525	Function	GTP binding	IDA	21059936
GO:0005525	Function	GTP binding	IEA
GO:0005737	Component	Cytoplasm	IEA
GO:0005739	Component	Mitochondrion	HTP	34800366
GO:0005739	Component	Mitochondrion	IDA
GO:0005739	Component	Mitochondrion	IEA
GO:0005741	Component	Mitochondrial outer membrane	IEA
GO:0005829	Component	Cytosol	TAS
GO:0006400	Process	TRNA modification	IEA
GO:0006400	Process	TRNA modification	ISS
GO:0006400	Process	TRNA modification	TAS
GO:0006979	Process	Response to oxidative stress	IDA	25008184
GO:0008033	Process	TRNA processing	IBA
GO:0008033	Process	TRNA processing	IDA	21059936
GO:0008033	Process	TRNA processing	IEA
GO:0008053	Process	Mitochondrial fusion	IDA	25008184
GO:0008193	Function	TRNA guanylyltransferase activity	IBA
GO:0008193	Function	TRNA guanylyltransferase activity	IDA	21059936
GO:0008193	Function	TRNA guanylyltransferase activity	IEA
GO:0008193	Function	TRNA guanylyltransferase activity	ISS
GO:0016020	Component	Membrane	IEA
GO:0016740	Function	Transferase activity	IEA
GO:0016779	Function	Nucleotidyltransferase activity	EXP	21059936
GO:0016779	Function	Nucleotidyltransferase activity	IEA
GO:0042802	Function	Identical protein binding	IPI	21059936, 21516116, 25416956
GO:0046872	Function	Metal ion binding	IEA
GO:0051289	Process	Protein homotetramerization	IPI	21059936
GO:0099116	Process	TRNA 5'-end processing	IEA
GO:1990046	Process	Stress-induced mitochondrial fusion	IDA	25008184
GO:1990234	Component	Transferase complex	IDA	21059936

MIM	HGNC	e!Ensembl
618802	26053	ENSG00000113272

Q9NWX6

Protein name

Probable tRNA(His) guanylyltransferase (EC 2.7.7.79) (Induced in high glucose-1) (IHG-1) (Interphase cytoplasmic foci protein 45) (tRNA-histidine guanylyltransferase)

Protein function

Adds a GMP to the 5'-end of tRNA(His) after transcription and RNase P cleavage. This step is essential for proper recognition of the tRNA and for the fidelity of protein synthesis (Probable). Also functions as a guanyl-nucleotide exchange factor

PDB

3OTB , 3OTC , 3OTD , 3OTE , 7CV1

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF04446	Thg1	35 → 164	tRNAHis guanylyltransferase	Domain
PF14413	Thg1C	167 → 283	Thg1 C terminal domain	Domain

Tissue specificity

TISSUE SPECIFICITY: Expressed in many tissues. {ECO:0000269|PubMed:15459185}.

Sequence

MWGACKVKVHDSLATISITLRRYLRLGATMAKSKFEYVRDFEADDTCLAHCWVVVRLDGR
NFHRFAEKHNFAKPNDSRALQLMTKCAQTVMEELEDIVIAYGQSDEYSFVFKRKTNWFKR
RASKFMTHVASQFASSYVFYWRDYFEDQPLLYPPGFDGRVVVYPSNQTLKDYLSWRQADC
HINNLYNTVFWALIQQSGLTPVQAQGRLQGTLAADKNEILFSEFNINYNNELPMYRKGTV
LIWQKVDEVMTKEIKLPTEMEGKKMAVTRTRTKPVPLHCDIIGDAFWKEHPEILDEDS

Sequence length

298

Interactions

View interactions

	Reactome
			tRNA modification in the nucleus and cytosol

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Causal Diseases (3)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Neurodevelopmental disorder	Pathogenic; Likely pathogenic	rs1231208679, rs2113025862	RCV001780041 RCV001780050	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Spinocerebellar ataxia, autosomal recessive 28	Likely pathogenic; Pathogenic	rs201920319	RCV001009629	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
THG1L-related disorder	Likely pathogenic; Pathogenic	rs201920319	RCV005250066	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (3)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Gastric cancer	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
KIDNEY DISEASES	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEURODEVELOPMENTAL DISORDERS	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (12)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Anaplasia	Anaplasia	BEFREE	25008184		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebellar atrophy	Cerebellar atrophy	BEFREE	27307223, 31168944		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cirrhosis	Cirrhosis	CTD_human_DG	21784897		★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital cerebellar ataxia	Congenital Cerebellar Ataxia	BEFREE	31168944		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetic Nephropathy	Diabetic Nephropathy	BEFREE	18508967, 25008184, 25085843, 28115289		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetic Nephropathy	Diabetic Nephropathy	LHGDN	18508967		★★★★★ ★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	BEFREE	27307223		★★★★★ ★☆☆☆☆ Found in Text Mining only
Kidney Diseases	Kidney Disease	CTD_human_DG	21784897		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Kidney Diseases	Kidney Disease	BEFREE	23567938, 28115289		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Kidney Diseases	Kidney disease	Pubtator	23567938	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Microcephaly	Microcephaly	Pubtator	30214071	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Renal fibrosis	Renal fibrosis	BEFREE	23165112		★★★★★ ★☆☆☆☆ Found in Text Mining only

THG1L (tRNA-histidine guanylyltransferase 1 like)