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... See more...

Aliases for THG1L Gene

Aliases for THG1L Gene

  • TRNA-Histidine Guanylyltransferase 1 Like 2 3 5
  • Interphase Cytoplasmic Foci Protein 45 2 3 4
  • ICF45 2 3 4
  • Probable TRNA(His) Guanylyltransferase 3 4
  • Induced By High Glucose-1 2 3
  • IHG-1 2 3
  • HTHG1 2 3
  • TRNA-Histidine Guanylyltransferase 1-Like (S. Cerevisiae) 2
  • TRNA-Histidine Guanylyltransferase 1-Like 2
  • TRNA-Histidine Guanylyltransferase 4
  • EC 2.7.7.79 4
  • EC 2.7.7.6 51
  • FLJ11601 2
  • FLJ20546 2
  • EC 2.7.7 51
  • SCAR28 3
  • THG1L 5
  • IHG1 3
  • THG1 3

External Ids for THG1L Gene

Previous GeneCards Identifiers for THG1L Gene

  • GC05P157090
  • GC05P157159
  • GC05P152246

Summaries for THG1L Gene

Entrez Gene Summary for THG1L 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. 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]

GeneCards Summary for THG1L Gene

THG1L (TRNA-Histidine Guanylyltransferase 1 Like) is a Protein Coding gene. Diseases associated with THG1L include Spinocerebellar Ataxia, Autosomal Recessive 28 and Renal Fibrosis. Among its related pathways are Gene Expression and tRNA processing. Gene Ontology (GO) annotations related to this gene include identical protein binding and magnesium ion binding.

UniProtKB/Swiss-Prot Summary for THG1L Gene

  • 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.

Gene Wiki entry for THG1L Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for THG1L Gene

Genomics for THG1L Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for THG1L Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around THG1L on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for THG1L

Top Transcription factor binding sites by QIAGEN in the THG1L gene promoter:
  • Arnt
  • CREB
  • deltaCREB
  • p53
  • PPAR-gamma1
  • PPAR-gamma2
  • RORalpha2
  • RSRFC4
  • TBP
  • TGIF

Genomic Locations for THG1L Gene

Genomic Locations for THG1L Gene
chr5:157,731,420-157,741,449
(GRCh38/hg38)
Size:
10,030 bases
Orientation:
Plus strand
chr5:157,158,205-157,168,456
(GRCh37/hg19)
Size:
10,252 bases
Orientation:
Plus strand

Genomic View for THG1L Gene

Genes around THG1L on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
THG1L Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for THG1L Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for THG1L Gene

Proteins for THG1L Gene

  • Protein details for THG1L Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9NWX6-THG1_HUMAN
    Recommended name:
    Probable tRNA(His) guanylyltransferase
    Protein Accession:
    Q9NWX6
    Secondary Accessions:
    • D3DQJ5
    • Q53G12
    • Q7L5R3
    • Q9H0S2

    Protein attributes for THG1L Gene

    Size:
    298 amino acids
    Molecular mass:
    34831 Da
    Cofactor:
    Name=Mg(2+); Xref=ChEBI:CHEBI:18420;
    Quaternary structure:
    • Homotetramer.
    SequenceCaution:
    • Sequence=AAH01523.2; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305}; Sequence=AAH01852.2; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for THG1L Gene

neXtProt entry for THG1L Gene

Selected DME Specific Peptides for THG1L Gene

Q9NWX6:
  • KDYLSWR
  • QQSGLTP
  • HINNLYNT
  • TLAADKN
  • ADKNEILF

Post-translational modifications for THG1L Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for THG1L Gene

Domains & Families for THG1L Gene

Gene Families for THG1L Gene

Human Protein Atlas (HPA):
  • Enzymes
  • Predicted intracellular proteins

Protein Domains for THG1L Gene

Suggested Antigen Peptide Sequences for THG1L Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ13293 fis, clone OVARC1001188 (Q9H8R6_HUMAN)
  • tRNA-histidine guanylyltransferase (THG1_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9NWX6

UniProtKB/Swiss-Prot:

THG1_HUMAN :
  • Belongs to the tRNA(His) guanylyltransferase family.
Family:
  • Belongs to the tRNA(His) guanylyltransferase family.
genes like me logo Genes that share domains with THG1L: view

Function for THG1L Gene

Molecular function for THG1L Gene

UniProtKB/Swiss-Prot 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.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=5'-end ribonucleotide-tRNA(His) + ATP + GTP + H2O = a 5'-phospho-guanosine-ribonucleotide-tRNA(His) + AMP + 2 diphosphate + H(+); Xref=Rhea:RHEA:54564, Rhea:RHEA-COMP:14193, Rhea:RHEA-COMP:14917, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:30616, ChEBI:CHEBI:33019, ChEBI:CHEBI:37565, ChEBI:CHEBI:138282, ChEBI:CHEBI:141847, ChEBI:CHEBI:456215; EC=2.7.7.79; Evidence={ECO:0000269|PubMed:21059936};.

Enzyme Numbers (IUBMB) for THG1L Gene

Phenotypes From GWAS Catalog for THG1L Gene

Gene Ontology (GO) - Molecular Function for THG1L Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000049 tRNA binding TAS 21059936
GO:0000166 nucleotide binding IEA --
GO:0000287 magnesium ion binding IEA,IDA 21059936
GO:0005515 protein binding IPI 21044950
GO:0005524 ATP binding IDA 21059936
genes like me logo Genes that share ontologies with THG1L: view
genes like me logo Genes that share phenotypes with THG1L: view

Animal Models for THG1L Gene

MGI Knock Outs for THG1L:
  • Thg1l Thg1l<tm1b(EUCOMM)Wtsi>

Animal Model Products

  • Taconic Biosciences Mouse Models for THG1L

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for THG1L

No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for THG1L Gene

Localization for THG1L Gene

Subcellular locations from UniProtKB/Swiss-Prot for THG1L Gene

Cytoplasm. Note=Found near the nuclear membrane.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for THG1L gene
Compartment Confidence
mitochondrion 4
cytosol 4
nucleus 3
peroxisome 0
endoplasmic reticulum 0

Gene Ontology (GO) - Cellular Components for THG1L Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005739 mitochondrion IDA --
GO:0005829 cytosol TAS --
GO:1990234 transferase complex IDA 21059936
genes like me logo Genes that share ontologies with THG1L: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for THG1L Gene

Pathways & Interactions for THG1L Gene

PathCards logo

SuperPathways for THG1L Gene

genes like me logo Genes that share pathways with THG1L: view

Pathways by source for THG1L Gene

Gene Ontology (GO) - Biological Process for THG1L Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006400 tRNA modification IEA,TAS --
GO:0008033 tRNA processing IBA,IDA 21059936
GO:0051289 protein homotetramerization IPI 21059936
GO:0099116 tRNA 5'-end processing IEA --
genes like me logo Genes that share ontologies with THG1L: view

No data available for SIGNOR curated interactions for THG1L Gene

Drugs & Compounds for THG1L Gene

(3) Drugs for THG1L Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Adenosine monophosphate Approved, Investigational Nutra 0
Guanosine triphosphate Experimental Pharma 0
ATP Investigational Nutra Agonist, Activator, Partial agonist, Antagonist, Full agonist, Gating inhibitor, Pore Blocker, Potentiation 0

(1) Additional Compounds for THG1L Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
pyrophosphate
  • [(ho)2P(O)OP(O)(OH)2]
  • Acide diphosphorique
  • Diphosphorsaeure
  • H4P2O7
  • PYROphosphATE
14000-31-8
genes like me logo Genes that share compounds with THG1L: view

Transcripts for THG1L Gene

mRNA/cDNA for THG1L Gene

4 REFSEQ mRNAs :
15 NCBI additional mRNA sequence :
3 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for THG1L

Alternative Splicing Database (ASD) splice patterns (SP) for THG1L Gene

ExUns: 1a · 1b · 1c · 1d ^ 2a · 2b ^ 3a · 3b · 3c ^ 4 ^ 5 ^ 6a · 6b
SP1:
SP2: - -
SP3: - -
SP4:

Relevant External Links for THG1L Gene

GeneLoc Exon Structure for
THG1L

Expression for THG1L Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for THG1L Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for THG1L Gene

This gene is overexpressed in Esophagus (35.4) and Stomach (9.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for THG1L Gene



Protein tissue co-expression partners for THG1L Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for THG1L

SOURCE GeneReport for Unigene cluster for THG1L Gene:

Hs.353090

mRNA Expression by UniProt/SwissProt for THG1L Gene:

Q9NWX6-THG1_HUMAN
Tissue specificity: Expressed in many tissues.

Evidence on tissue expression from TISSUES for THG1L Gene

  • Nervous system(4.4)
  • Muscle(4.2)
genes like me logo Genes that share expression patterns with THG1L: view

No data available for mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for THG1L Gene

Orthologs for THG1L Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for THG1L Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia THG1L 30 31
  • 98.99 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia THG1L 30 31
  • 89.49 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia THG1L 30 31
  • 89.37 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Thg1l 30
  • 84.75 (n)
Mouse
(Mus musculus)
Mammalia Thg1l 30 17 31
  • 83.45 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia THG1L 31
  • 81 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia THG1L 31
  • 79 (a)
OneToOne
Chicken
(Gallus gallus)
Aves THG1L 30 31
  • 79.06 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia THG1L 31
  • 72 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia LOC101733043 30
  • 74.92 (n)
Str.13696 30
African clawed frog
(Xenopus laevis)
Amphibia Xl.10272 30
Zebrafish
(Danio rerio)
Actinopterygii thg1l 30 31
  • 70.29 (n)
OneToOne
Dr.16865 30
Rainbow Trout
(Oncorhynchus mykiss)
Actinopterygii Omy.8574 30
Fruit Fly
(Drosophila melanogaster)
Insecta l(2)35Bc 30 31
  • 59.08 (n)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP011752 30
  • 55.91 (n)
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes THG1 30 31 33
  • 55.19 (n)
OneToOne
K. Lactis Yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0B06237g 30
  • 54.87 (n)
A. gosspyii yeast
(Eremothecium gossypii)
Saccharomycetes AGOS_ABR031C 30
  • 52.99 (n)
Thale Cress
(Arabidopsis thaliana)
eudicotyledons AT2G31580 30
  • 55.51 (n)
Rice
(Oryza sativa)
Liliopsida Os05g0535500 30
  • 57.66 (n)
Fission Yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes SPCC63.07 30
  • 55.12 (n)
Bread mold
(Neurospora crassa)
Ascomycetes NCU02105 30
  • 55.07 (n)
Sea Squirt
(Ciona savignyi)
Ascidiacea CSA.5403 31
  • 49 (a)
OneToOne
Species where no ortholog for THG1L was found in the sources mined by GeneCards:
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)

Evolution for THG1L Gene

ENSEMBL:
Gene Tree for THG1L (if available)
TreeFam:
Gene Tree for THG1L (if available)
Aminode:
Evolutionary constrained regions (ECRs) for THG1L: view image

Paralogs for THG1L Gene

No data available for Paralogs for THG1L Gene

Variants for THG1L Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for THG1L Gene

SNP ID Clinical significance and condition Chr 05 pos Variation AA Info Type
818233 Uncertain Significance: not provided 157,739,466(+) T/C MISSENSE_VARIANT
rs201920319 Pathogenic: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 28; not provided 157,731,604(+) T/C MISSENSE_VARIANT,FIVE_PRIME_UTR_VARIANT
rs746295635 Uncertain Significance: not provided 157,731,577(+) C/A MISSENSE_VARIANT,FIVE_PRIME_UTR_VARIANT
rs766582679 Uncertain Significance: not provided 157,732,989(+) G/A MISSENSE_VARIANT,SYNONYMOUS_VARIANT,FIVE_PRIME_UTR_VARIANT
rs2270812 - p.Leu232Pro

Additional dbSNP identifiers (rs#s) for THG1L Gene

Structural Variations from Database of Genomic Variants (DGV) for THG1L Gene

Variant ID Type Subtype PubMed ID
esv2759389 CNV loss 17122850

Variation tolerance for THG1L Gene

Residual Variation Intolerance Score: 49.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.77; 16.31% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for THG1L Gene

Human Gene Mutation Database (HGMD)
THG1L
SNPedia medical, phenotypic, and genealogical associations of SNPs for
THG1L

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for THG1L Gene

Disorders for THG1L Gene

MalaCards: The human disease database

(2) MalaCards diseases for THG1L Gene - From: OMIM, ClinVar, DISEASES, and GeneCards

- elite association - COSMIC cancer census association via MalaCards
Search THG1L in MalaCards View complete list of genes associated with diseases

Additional Disease Information for THG1L

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
genes like me logo Genes that share disorders with THG1L: view

No data available for UniProtKB/Swiss-Prot and Genatlas for THG1L Gene

Publications for THG1L Gene

  1. Toward a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs. (PMID: 11230166) Wiemann S … Poustka A (Genome research 2001) 2 3 4
  2. tRNA(His) guanylyltransferase (THG1), a unique 3'-5' nucleotidyl transferase, shares unexpected structural homology with canonical 5'-3' DNA polymerases. (PMID: 21059936) Hyde SJ … Doublié S (Proceedings of the National Academy of Sciences of the United States of America 2010) 3 4
  3. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson SL … O'Brien SJ (PloS one 2010) 3 41
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4
  5. Identification and characterization of a novel cytoplasm protein ICF45 that is involved in cell cycle regulation. (PMID: 15459185) Guo D … He D (The Journal of biological chemistry 2004) 3 4

Products for THG1L Gene

  • Signalway Proteins for THG1L

Sources for THG1L Gene