THG1L tRNA-histidine guanylyltransferase 1 like [Homo sapiens (human)] - Gene

Summary

Official Symbol: THG1Lprovided by HGNC
Official Full Name: tRNA-histidine guanylyltransferase 1 likeprovided by HGNC
Primary source: HGNC:HGNC:26053
See related: Ensembl:ENSG00000113272 MIM:618802; AllianceGenome:HGNC:26053
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: IHG1; THG1; ICF45; IHG-1; hTHG1; SCAR28
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]
Expression: Ubiquitous expression in thyroid (RPKM 4.1), colon (RPKM 3.8) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 5q33.3

Exon count:: 8

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	5	NC_000005.10 (157731420..157741449)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	5	NC_060929.1 (158250432..158260460)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	5	NC_000005.9 (157158428..157168457)

Chromosome 5 - NC_000005.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Expression

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See details

Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Human Thg1 displays tRNA-inducible GTPase activity.
Title: Human Thg1 displays tRNA-inducible GTPase activity.
Analysis of GTP addition in the reverse (3'-5') direction by human tRNA(His) guanylyltransferase.
Title: Analysis of GTP addition in the reverse (3'-5') direction by human tRNA(His) guanylyltransferase.
Severe epileptic encephalopathy associated with compound heterozygosity of THG1L variants in the Ashkenazi Jewish population.
Title: Severe epileptic encephalopathy associated with compound heterozygosity of THG1L variants in the Ashkenazi Jewish population.
Study proposes that homozygosity for the p.Val55Ala mutation in tRNA-histidine guanylyltransferase 1 like (THG1L) is the cause of the abnormal mitochondrial network in the patient fibroblasts, likely by interfering with THG1L activity towards MFN2.
Title: A mutation in the THG1L gene in a family with cerebellar ataxia and developmental delay.
The high-resolution crystal structure of human Thg1 reveals remarkable structural similarity between canonical DNA/RNA polymerases and eukaryotic Thg1.
Title: Kinetic analysis of 3'-5' nucleotide addition catalyzed by eukaryotic tRNA(His) guanylyltransferase.
IHG-1 is a novel regulator of both mitochondrial dynamics and bioenergetic function and contributes to cell survival following oxidant stress. Increased IHG-1 expression may contribute to pathogenesis of diabetic kidney disease.
Title: IHG-1 increases mitochondrial fusion and bioenergetic function.
IHG-1 increases mitochondrial biogenesis by promoting PGC-1alpha-dependent processes, potentially contributing to the pathogenesis of renal fibrosis
Title: IHG-1 promotes mitochondrial biogenesis by stabilizing PGC-1α.
The catalytic domain of Thg1 shares both a common architecture and a two-metal ion-dependent mechanism with canonical 5'-3' DNA polymerases.
Title: Crystal structure of a reverse polymerase.
Observational study of gene-disease association. (HuGE Navigator)
Title: Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
induced in high glucose-1 (IHG-1)which increases in diabetic nephropathy, may enhance the actions of TGF-beta1 and contribute to the development of tubulointerstitial fibrosis
Title: IHG-1 amplifies TGF-beta1 signaling and is increased in renal fibrosis.

Submit: New GeneRIF Correction See all GeneRIFs (11)

Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Spinocerebellar ataxia, autosomal recessive 28 MedGen: C5394101 OMIM: 618800 GeneReviews: Not available	Compare labs

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH91252 (e-PCR)
- UniSTS:88642

SHGC-58349 (e-PCR)
- UniSTS:22611

SHGC-57583 (e-PCR)
- UniSTS:22612

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables ATP binding	IDA Inferred from Direct Assay more info	PubMed
enables GTP binding	IDA Inferred from Direct Assay more info	PubMed
enables guanyl-nucleotide exchange factor activity	IDA Inferred from Direct Assay more info	PubMed
enables identical protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables magnesium ion binding	IDA Inferred from Direct Assay more info	PubMed
enables nucleotidyltransferase activity	EXP Inferred from Experiment more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables tRNA binding	TAS Traceable Author Statement more info	PubMed
enables tRNA guanylyltransferase activity	IBA Inferred from Biological aspect of Ancestor more info
enables tRNA guanylyltransferase activity	IDA Inferred from Direct Assay more info	PubMed
enables tRNA guanylyltransferase activity	ISS Inferred from Sequence or Structural Similarity more info

Process	Evidence Code	Pubs
involved_in mitochondrial fusion	IDA Inferred from Direct Assay more info	PubMed
involved_in protein homotetramerization	IPI Inferred from Physical Interaction more info	PubMed
involved_in response to oxidative stress	IDA Inferred from Direct Assay more info	PubMed
involved_in stress-induced mitochondrial fusion	IDA Inferred from Direct Assay more info	PubMed
involved_in tRNA 5'-end processing	IEA Inferred from Electronic Annotation more info
involved_in tRNA modification	ISS Inferred from Sequence or Structural Similarity more info
involved_in tRNA modification	TAS Traceable Author Statement more info
involved_in tRNA processing	IBA Inferred from Biological aspect of Ancestor more info
involved_in tRNA processing	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
located_in cytosol	TAS Traceable Author Statement more info
located_in mitochondrial outer membrane	IEA Inferred from Electronic Annotation more info
located_in mitochondrion	HTP more info	PubMed
located_in mitochondrion	IDA Inferred from Direct Assay more info
part_of transferase complex	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: probable tRNA(His) guanylyltransferase

Names: induced by high glucose-1; induced in high glucose-1; interphase cytoplasmic foci protein 45

NP_001304753.1

EC 2.7.7.79

NP_001304754.1

EC 2.7.7.79

NP_001304755.1

EC 2.7.7.79

NP_060342.2

EC 2.7.7.79

XP_016865092.1

EC 2.7.7.79

XP_054208851.1

EC 2.7.7.79

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_001317824.2 → NP_001304753.1 probable tRNA(His) guanylyltransferase isoform 2

Status: REVIEWED

Description

Transcript Variant: This variant (2) uses an alternate splice junction compared to variant 1. The resulting isoform (2) has a shorter and distinct N-terminus compared to isoform 1.

Source sequence(s)

AC026407, AK304590, CA426270

UniProtKB/TrEMBL

B4E366

Conserved Domains (1) summary

pfam14413
Location:35 → 150

Thg1C; Thg1 C terminal domain
NM_001317825.2 → NP_001304754.1 probable tRNA(His) guanylyltransferase isoform 3

Status: REVIEWED

Description

Transcript Variant: This variant (3) uses an alternate splice junction compared to variant 1. The resulting isoform (3) is shorter at the N-terminus compared to isoform 1.

Source sequence(s)

AC026407, AY463216, CA426270, DA874954

UniProtKB/TrEMBL

Q9H8R6

Conserved Domains (2) summary

pfam04446
Location:1 → 39

Thg1; tRNAHis guanylyltransferase

pfam14413
Location:42 → 157

Thg1C; Thg1 C terminal domain
NM_001317826.2 → NP_001304755.1 probable tRNA(His) guanylyltransferase isoform 4

Status: REVIEWED

Description

Transcript Variant: This variant (4) differs in the 5' UTR and coding sequence compared to variant 1. The resulting isoform (4) has a shorter and distinct N-terminus compared to isoform 1.

Source sequence(s)

AC026407, AY463216, CA426270, HY050784

UniProtKB/Swiss-Prot

Q9NWX6

Conserved Domains (2) summary

pfam04446
Location:2 → 102

Thg1; tRNAHis guanylyltransferase

pfam14413
Location:105 → 220

Thg1C; Thg1 C terminal domain
NM_017872.5 → NP_060342.2 probable tRNA(His) guanylyltransferase isoform 1

See identical proteins and their annotated locations for NP_060342.2

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).

Source sequence(s)

AC026407, AY463216, CA426270

Consensus CDS

CCDS4341.1

UniProtKB/Swiss-Prot

D3DQJ5, Q53G12, Q7L5R3, Q9H0S2, Q9NWX6

Related

ENSP00000231198.7, ENST00000231198.12

Conserved Domains (3) summary

COG4021
Location:31 → 291

Thg1; tRNA(His) 5'-end guanylyltransferase [Translation, ribosomal structure and biogenesis]

pfam04446
Location:38 → 164

Thg1; tRNAHis guanylyltransferase

pfam14413
Location:167 → 282

Thg1C; Thg1 C terminal domain

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000005.10 Reference GRCh38.p14 Primary Assembly

Range

157731420..157741449

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_017009603.3 → XP_016865092.1 probable tRNA(His) guanylyltransferase isoform X1

Conserved Domains (2) summary

pfam04446
Location:2 → 102

Thg1; tRNAHis guanylyltransferase

pfam14413
Location:105 → 220

Thg1C; Thg1 C terminal domain