THG1L - tRNA-histidine guanylyltransferase 1 like Gene

Homo sapiens

Also known as IHG1; THG1; ICF45; IHG-1; hTHG1; SCAR28

Gene ID: 54974 | Gene type: protein coding

About THG1L

Cytogenetic location: 5q33.3 Genomic coordinates (GRCh38): 5:157,731,420-157,741,449 (from NCBI)

This gene has 3 transcripts (splice variants), 213 orthologues and is associated with 2 phenotypes. Ubiquitous expression in thyroid (RPKM 4.1), colon (RPKM 3.8) and 25 other tissues.

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. Another function of this protein is that of a guanyltransferase, adding GMP to the 5' end of tRNA(His). Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2015]

THG1L Products(4)

mRNA	Protein	Name
NM_001317824.2	NP_001304753.1	probable tRNA(His) guanylyltransferase isoform 2
NM_001317825.2	NP_001304754.1	probable tRNA(His) guanylyltransferase isoform 3
NM_001317826.2	NP_001304755.1	probable tRNA(His) guanylyltransferase isoform 4
NM_017872.5	NP_060342.2	probable tRNA(His) guanylyltransferase isoform 1

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables ATP binding	IDA IDA: Inferred from direct assay	21059936	GOA
enables GTP binding	IDA IDA: Inferred from direct assay	21059936	GOA
enables guanyl-nucleotide exchange factor activity	IDA IDA: Inferred from direct assay	25008184	GOA
enables identical protein binding	IPI IPI: Inferred from physical interaction	21059936	GOA
enables magnesium ion binding	IDA IDA: Inferred from direct assay	21059936	GOA
enables nucleotidyltransferase activity	EXP EXP: Inferred from Experiment	21059936	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	21044950	GOA
enables tRNA guanylyltransferase activity	IDA IDA: Inferred from direct assay	21059936	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in mitochondrial fusion	IDA IDA: Inferred from direct assay	25008184	GOA
involved in protein homotetramerization	IPI IPI: Inferred from physical interaction	21059936	GOA
involved in response to oxidative stress	IDA IDA: Inferred from direct assay	25008184	GOA
involved in stress-induced mitochondrial fusion	IDA IDA: Inferred from direct assay	25008184	GOA
involved in tRNA processing	IDA IDA: Inferred from direct assay	21059936	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
part of transferase complex	IDA IDA: Inferred from direct assay	21059936	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

THG1L Protein Structure

Thg1

Thg1C

0
100
200
298 a.a.

Protein Preferred Names

Protein Names

probable tRNA(His) guanylyltransferase

induced by high glucose-1

THG1L Protein-protein interaction Information

Type Cross Intra	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Reference
Intra	THG1L	Q9NWX6	TERF1	Homo sapiens	P54274	Pull Down	21044950
Intra	THG1L	Q9NWX6	TERF1	Homo sapiens	P54274	BiFC	21044950
Intra	THG1L	Q9NWX6	SDCBP	Homo sapiens	O00560	Y2H Array	25416956
Intra	THG1L	Q9NWX6	SPS1	Saccharomyces cerevisiae	P08458	Validated Y2H	27107014
Intra	THG1L	Q9NWX6	THG1L	Homo sapiens	Q9NWX6	X-Ray Diffraction	21059936
Intra	THG1L	Q9NWX6	THG1L	Homo sapiens	Q9NWX6	Y2H	21516116
Intra	THG1L	Q9NWX6	THG1L	Homo sapiens	Q9NWX6	GMS	21059936
Intra	THG1L	Q9NWX6	SPS1	Saccharomyces cerevisiae	P08458	Y2H Array	27107014
Intra	THG1L	Q9NWX6	THG1L	Homo sapiens	Q9NWX6	Y2H Array	25416956

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases

Alias

Spinocerebellar Ataxia, Autosomal Recessive 28

SCAR28

Spinocerebellar Ataxia, Autosomal Recessive, 28

Renal Fibrosis

Microcephaly 16, Primary, Autosomal Recessive

MCPH16

Primary Autosomal Recessive Microcephaly 16

Charcot-Marie-Tooth Disease Type 2a2b

Severe Early-Onset Axonal Neuropathy Due To Mfn2 Deficiency	Ar-Cmt2, Ouvrier Type
Autosomal Recessive Charcot-Marie-Tooth Disease, Ouvrier Type	Seoan Due To Mfn2 Deficiency
Charcot-Marie-Tooth Disease, Axonal, Type 2a2b	Cmt2a2b
Charcot-Marie-Tooth Disease, Type 2a2b

Neuropathy, Hereditary Sensory And Autonomic, Type Vi

Hereditary Sensory And Autonomic Neuropathy Type 6	HSAN6
Hsan Vi	Hereditary Sensory And Autonomic Neuropathy Type Vi
Familial Dysautonomia With Contractures	Neuropathy, Hereditary Sensory And Autonomic, 6
Hereditary Sensory Neuropathy Type Vi	Hsn Vi
Neuropathy, Sensory And Autonomic, Hereditary, Type Vi

Microcephaly

Microencephaly	Microcephalus
Microcephalic	Nanocephaly
Congenital Microcephaly	Brain Hypoplasia
Brain Nondevelopment	Cephalic Hypoplasia
Undeveloped Cerebrum	Undeveloped Brain
Micrencephalon	Micrencephaly

Primary Autosomal Recessive Microcephaly

Autosomal Recessive Primary Microcephaly	Mcph
True Microcephaly	Microcephalia Vera
Microcephaly Vera	Microcephaly Primary Hereditary
Microcephaly, Primary, Autosomal Recessive	Primary Microcephaly

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS14490	THG1L Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Mus musculus	THG1L	MGD	MGI:1913878
Rattus norvegicus	THG1L	RGD	RGD:1359513
Canis familiaris	THG1L	VGNC	VGNC:47345
Bos taurus	THG1L	VGNC	VGNC:35837
Felis catus	THG1L	VGNC	VGNC:66163
Macaca mulatta	THG1L	VGNC	VGNC:110428

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