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Aliases for THG1L Gene

Aliases for THG1L Gene

  • TRNA-Histidine Guanylyltransferase 1 Like 2 3 5
  • Interphase Cytoplasmic Foci Protein 45 2 3 4
  • Induced By High Glucose-1 2 3
  • ICF45 3 4
  • TRNA-Histidine Guanylyltransferase 1-Like (S. Cerevisiae) 2
  • TRNA-Histidine Guanylyltransferase 1-Like 2
  • Probable TRNA(His) Guanylyltransferase 3
  • TRNA-Histidine Guanylyltransferase 4
  • EC 2.7.7.79 4
  • EC 2.7.7.6 56
  • EC 2.7.7 56
  • IHG-1 3
  • HTHG1 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 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 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

Additional gene information for THG1L Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for THG1L Gene

Genomics for THG1L Gene

GeneHancer (GH) Regulatory Elements for THG1L Gene

Promoters and enhancers for THG1L Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH05I157729 Promoter/Enhancer 2.3 EPDnew FANTOM5 Ensembl ENCODE 578.8 -0.3 -293 3.3 HDGF PKNOX1 SMAD1 ARID4B SIN3A DMAP1 ZNF2 IRF4 YY1 POLR2B THG1L ADAM19 LOC105377676
GH05I157669 Promoter/Enhancer 1.9 EPDnew Ensembl ENCODE 23.3 -60.2 -60178 2.7 HDGF ZNF493 ZNF529 BMI1 ZNF335 ZNF213 ZNF354C ZNF138 ZNF366 IKZF2 C5orf52 SOX30 THG1L MED7 ADAM19 PIR61662
GH05I157141 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 21.9 -588.2 -588216 2.5 PKNOX1 ARNT ARID4B SIN3A FEZF1 DMAP1 ZBTB7B YY1 POLR2B E2F8 MED7 HAVCR2 ITK THG1L PPP1R2P3 HAVCR1
GH05I157265 Promoter/Enhancer 2.5 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 11.2 -461.0 -460962 9.9 HDGF ATF1 PKNOX1 SIN3A FEZF1 IRF4 YY1 ETS1 ZNF766 GLIS2 CYFIP2 LOC102724404 HAVCR2 THG1L ITK MED7 NIPAL4 ADAM19 ENSG00000248544 ENSG00000253653
GH05I157462 Enhancer 1.6 FANTOM5 Ensembl ENCODE dbSUPER 11.5 -266.9 -266900 2.7 PKNOX1 IRF4 E2F8 FOS ATF7 KLF13 JUNB TSHZ1 ZNF518A ATF4 NIPAL4 FNDC9 LOC102724404 THG1L ADAM19 HAVCR2 ENSG00000253519
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around THG1L on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the THG1L gene promoter:

Genomic Locations for THG1L Gene

Genomic Locations for THG1L Gene
chr5:157,731,197-157,741,448
(GRCh38/hg38)
Size:
10,252 bases
Orientation:
Plus strand
chr5:157,158,205-157,168,456
(GRCh37/hg19)

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=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=AAH01852.2; Type=Erroneous initiation; Note=Translation N-terminally extended.; 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

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 CatalyticActivity:
p-tRNA(His) + ATP + GTP = pppG-P-tRNA(His) + AMP + diphosphate.
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.

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 IDA,IEA 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 Model Products

  • Taconic Biosciences Mouse Models for THG1L

Clone Products

No data available for Human Phenotype Ontology , Animal Models , 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 5
cytosol 5
nucleus 3
peroxisome 1
endoplasmic reticulum 1

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 --
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

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 IDA,IEA 21059936
GO:0051289 protein homotetramerization IDA,IPI 21059936
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 0

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
pyrophosphate
  • (4-)Diphosphoric acid ion
  • (P2O74-)Diphosphate
  • Diphosphate
  • Diphosphoric acid
  • PPi
14000-31-8
genes like me logo Genes that share compounds with THG1L: view

Transcripts for THG1L Gene

Unigene Clusters for THG1L Gene

TRNA-histidine guanylyltransferase 1-like (S. cerevisiae):
Representative Sequences:

Clone Products

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
ECgene alternative splicing isoforms for
THG1L

Expression for THG1L Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP 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, PaxDb, MaxQB, and MOPED for THG1L Gene



Protein tissue co-expression partners for THG1L Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of THG1L Gene:

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

  • Muscle(4.2)
  • Nervous system(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 33 34
  • 98.99 (n)
dog
(Canis familiaris)
Mammalia THG1L 33 34
  • 89.49 (n)
cow
(Bos Taurus)
Mammalia THG1L 33 34
  • 89.37 (n)
rat
(Rattus norvegicus)
Mammalia Thg1l 33
  • 84.75 (n)
mouse
(Mus musculus)
Mammalia Thg1l 16 34 33
  • 83.45 (n)
oppossum
(Monodelphis domestica)
Mammalia THG1L 34
  • 81 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia THG1L 34
  • 79 (a)
OneToOne
chicken
(Gallus gallus)
Aves THG1L 34 33
  • 79.06 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia THG1L 34
  • 72 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC101733043 33
  • 74.92 (n)
Str.13696 33
African clawed frog
(Xenopus laevis)
Amphibia Xl.10272 33
zebrafish
(Danio rerio)
Actinopterygii thg1l 33 34
  • 70.29 (n)
Dr.16865 33
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.8574 33
fruit fly
(Drosophila melanogaster)
Insecta l(2)35Bc 33 34
  • 59.08 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP011752 33
  • 55.91 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes THG1 33 34 36
  • 55.19 (n)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0B06237g 33
  • 54.87 (n)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_ABR031C 33
  • 52.99 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons AT2G31580 33
  • 55.51 (n)
rice
(Oryza sativa)
Liliopsida Os05g0535500 33
  • 57.66 (n)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes SPCC63.07 33
  • 55.12 (n)
bread mold
(Neurospora crassa)
Ascomycetes NCU02105 33
  • 55.07 (n)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.5403 34
  • 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 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)

Paralogs for THG1L Gene

No data available for Paralogs for THG1L Gene

Variants for THG1L Gene

Sequence variations from dbSNP and Humsavar for THG1L Gene

SNP ID Clin Chr 05 pos Variation AA Info Type
rs1000482585 -- 157,739,009(+) A/G intron_variant
rs1001108891 -- 157,734,191(+) T/A intron_variant
rs1001544350 -- 157,734,258(+) T/C intron_variant
rs1001598555 -- 157,734,013(+) A/G intron_variant
rs1001756882 -- 157,740,581(+) C/T 3_prime_UTR_variant

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

(1) MalaCards diseases for THG1L Gene - From: HGMD and GeneCards

Disorder Aliases PubMed IDs
renal fibrosis
- 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
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 58
  2. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson SL … O'Brien SJ (PloS one 2010) 3 44 58
  3. 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 58
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58
  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 58

Products for THG1L Gene

Sources for THG1L Gene

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