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

Gene Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	54974
Gene name Gene Name - the full gene name approved by the HGNC.	TRNA-histidine guanylyltransferase 1 like
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	THG1L
Synonyms (NCBI Gene) Gene synonyms aliases	ICF45, IHG-1, IHG1, SCAR28, THG1, hTHG1
Disease Acronyms (UniProt) Disease acronyms from UniProt database	SCAR28
Chromosome Chromosome number	5
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	5q33.3
Summary Summary of gene provided in NCBI Entrez Gene.	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

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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

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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

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GO ID	Ontology	Definition	Evidence	Reference
GO:0000049	Function	TRNA binding	TAS	21059936
GO:0000287	Function	Magnesium ion binding	IDA	21059936
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:0005739	Component	Mitochondrion	IDA
GO:0005741	Component	Mitochondrial outer membrane	IEA
GO:0005829	Component	Cytosol	TAS
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	21873635
GO:0008033	Process	TRNA processing	IDA	21059936
GO:0008053	Process	Mitochondrial fusion	IDA	25008184
GO:0008193	Function	TRNA guanylyltransferase activity	IBA	21873635
GO:0008193	Function	TRNA guanylyltransferase activity	IDA	21059936
GO:0008193	Function	TRNA guanylyltransferase activity	ISS
GO:0016779	Function	Nucleotidyltransferase activity	EXP	21059936
GO:0042802	Function	Identical protein binding	IPI	21059936, 21516116, 25416956
GO:0050790	Process	Regulation of catalytic activity	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

Protein

UniProt ID

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

Show/Hide Causal Diseases (1)

Disease term	Disease name	dbSNP ID	References
Causal
Kidney disease	Kidney Diseases	rs74315342, rs749740335, rs757649673, rs112417755, rs35138315	21784897

Show/Hide Unknown Diseases (2)

Disease term	Disease name	References	Source
Unknown
Cirrhosis	Cirrhosis	21784897	ClinVar
Spinocerebellar Ataxia	spinocerebellar ataxia, autosomal recessive 28		GenCC

Show/Hide Text Mining Associations (1)

Disease Name	Relationship Type	References
Associations from Text Mining
Microcephaly	Associate	30214071

THG1L (tRNA-histidine guanylyltransferase 1 like)