Aliases for THG1L Gene
Aliases for THG1L Gene
External Ids for THG1L Gene
- HGNC: 26053
- Entrez Gene: 54974
- Ensembl: ENSG00000113272
- UniProtKB: Q9NWX6
Previous GeneCards Identifiers for THG1L Gene
- GC05P157090
- GC05P157159
- GC05P152246
Summaries 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.
Additional gene information for THG1L Gene
- Monarch Initiative
- Search for THG1L at DataMed
- Search for THG1L at HumanCyc
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
- 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:
Regulatory Element Products
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:
-
- 5q33.3 by Ensembl
- 5q33.3 by Entrez Gene
- 5q33.3 by HGNC
THG1L Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene 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
- 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};
Protein Expression for THG1L Gene
Selected DME Specific Peptides for THG1L Gene
- Q9NWX6:
-
- KDYLSWR
- QQSGLTP
- HINNLYNT
- TLAADKN
- ADKNEILF
Post-translational modifications for THG1L Gene
Other Protein References for THG1L Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
-
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- GeneTex THG1L antibody for THG1L
Protein Products
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- ProSpec Recombinant Proteins for THG1L
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-
Quality Products:
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Assay Products
Domains & Families for THG1L Gene
Gene Families for THG1L Gene
- Human Protein Atlas (HPA):
-
- Enzymes
- Predicted intracellular proteins
Protein Domains for THG1L Gene
- InterPro:
- ProtoNet:
Suggested Antigen Peptide Sequences for THG1L Gene
- GenScript: Design optimal peptide antigens:
Graphical View of Domain Structure for InterPro Entry
Q9NWX6- Family:
-
- Belongs to the tRNA(His) guanylyltransferase family.
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
| 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 |
Phenotypes for THG1L Gene
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miRNA for THG1L Gene
- miRTarBase miRNAs that target THG1L
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-
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- Mammalian expression: PiggyBac
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- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
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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.
| Compartment | Confidence |
|---|---|
| mitochondrion | 5 |
| cytosol | 5 |
| nucleus | 3 |
| peroxisome | 1 |
| endoplasmic reticulum | 1 |
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005737 | cytoplasm | IEA | -- |
| GO:0005739 | mitochondrion | IDA | -- |
| GO:0005829 | cytosol | TAS | -- |
No data available for Subcellular locations from the Human Protein Atlas (HPA) for THG1L Gene
Pathways & Interactions for THG1L Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | tRNA processing |
.55
|
|
| 2 | Gene Expression |
.48
|
|
Pathways by source for THG1L Gene
3 Reactome pathways for THG1L Gene
Interacting Proteins for THG1L Gene
Selected Interacting proteins:
Q9NWX6-THG1_HUMAN
ENSP00000231198
for THG1L Gene via
MINT
STRING
UniProtKB
IID
| 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 |
No data available for SIGNOR curated interactions for THG1L Gene
Drugs & Compounds for THG1L Gene
| Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
|---|---|---|---|---|---|---|
| pyrophosphate |
|
14000-31-8 |
|
Transcripts for THG1L Gene
mRNA/cDNA for THG1L Gene
- (5) REFSEQ mRNAs :
- (12) Additional mRNA sequences :
- (115) Selected AceView cDNA sequences:
- (3) Ensembl transcripts including schematic representations, and UCSC links where relevant :
Unigene Clusters for THG1L Gene
CRISPR Products
-
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-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for THG1L
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miRNA Products
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Inhibitory RNA Products
- Origene RNAi, sirna, and shrna products in human, mouse, rat for THG1L
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-
ViGene Biosciences ready-to-package AAV shRNAs for THG1L gene
Clone Products
- VectorBuilder custom plasmid, inducible vectors for THG1L
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for THG1L
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- Applied Biological Materials Clones for THG1L
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
| ExUns: | 1a | · | 1b | · | 1c | · | 1d | ^ | 2a | · | 2b | ^ | 3a | · | 3b | · | 3c | ^ | 4 | ^ | 5 | ^ | 6a | · | 6b |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SP1: | |||||||||||||||||||||||||
| SP2: | - | - | |||||||||||||||||||||||
| SP3: | - | - | |||||||||||||||||||||||
| SP4: |
Expression for THG1L Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
-
Testis (Reproductive System)
- Leydig Cells Testis Interstitium
- Brain (Nervous System)
- Thyroid (Endocrine System)
- Intestine (Gastrointestinal Tract)
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
- Elite partner
NURSA nuclear receptor signaling pathways regulating expression of THG1L Gene:
THG1LSOURCE GeneReport for Unigene cluster for THG1L Gene:
Hs.353090mRNA 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)
Primer Products
-
OriGene qPCR primer pairs for THG1L
-
OriGene qPCR primer pairs and template standards for THG1L
Gene Expression Assay Products
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.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | THG1L 33 34 |
|
||
| dog (Canis familiaris) |
Mammalia | THG1L 33 34 |
|
||
| cow (Bos Taurus) |
Mammalia | THG1L 33 34 |
|
||
| rat (Rattus norvegicus) |
Mammalia | Thg1l 33 |
|
||
| mouse (Mus musculus) |
Mammalia | Thg1l 16 34 33 |
|
||
| oppossum (Monodelphis domestica) |
Mammalia | THG1L 34 |
|
OneToOne | |
| platypus (Ornithorhynchus anatinus) |
Mammalia | THG1L 34 |
|
OneToOne | |
| chicken (Gallus gallus) |
Aves | THG1L 34 33 |
|
OneToOne | |
| lizard (Anolis carolinensis) |
Reptilia | THG1L 34 |
|
OneToOne | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | LOC101733043 33 |
|
||
| Str.13696 33 |
|
||||
| African clawed frog (Xenopus laevis) |
Amphibia | Xl.10272 33 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | thg1l 33 34 |
|
||
| Dr.16865 33 |
|
||||
| rainbow trout (Oncorhynchus mykiss) |
Actinopterygii | Omy.8574 33 |
|
||
| fruit fly (Drosophila melanogaster) |
Insecta | l(2)35Bc 33 34 |
|
||
| African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP011752 33 |
|
||
| baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | THG1 33 34 36 |
|
||
| K. lactis yeast (Kluyveromyces lactis) |
Saccharomycetes | KLLA0B06237g 33 |
|
||
| A. gosspyii yeast (Ashbya gossypii) |
Saccharomycetes | AGOS_ABR031C 33 |
|
||
| thale cress (Arabidopsis thaliana) |
eudicotyledons | AT2G31580 33 |
|
||
| rice (Oryza sativa) |
Liliopsida | Os05g0535500 33 |
|
||
| fission yeast (Schizosaccharomyces pombe) |
Schizosaccharomycetes | SPCC63.07 33 |
|
||
| bread mold (Neurospora crassa) |
Ascomycetes | NCU02105 33 |
|
||
| sea squirt (Ciona savignyi) |
Ascidiacea | CSA.5403 34 |
|
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)
Paralogs for THG1L Gene
No data available for Paralogs for THG1L Gene
Variants 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 |
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| esv2759389 | CNV | loss | 17122850 |
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
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for THG1L Gene
Disorders for THG1L Gene
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| renal fibrosis |
|
|
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
No data available for UniProtKB/Swiss-Prot and Genatlas for THG1L Gene
Publications for THG1L Gene
- 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
- Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson SL … O'Brien SJ (PloS one 2010) 3 44 58
- 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
- Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58
- 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
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- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- antibodies-online: Search results for 23 available THG1L Antibodies ranked by validation data
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Sources for THG1L Gene
- (1) GeneCards
- (2) HGNC
- (3) EntrezGene
- (4) Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) GO
- (12) TrEMBL
- (13) InterPro
- (14) ProtoNet
- (15) Blocks
- (16) MGI
- (17) IUBMB
- (18) KEGG
- (19) MINT
- (20) STRING
- (21) IntAct
- (22) Novoseek
- (23) PharmGKB
- (24) DrugBank
- (25) HMDB
- (26) UniGene
- (27) AceView
- (28) ASD
- (29) ECgene
- (30) GeneAnnot
- (31) CGAP SAGE
- (32) SOURCE
- (33) HomoloGene
- (34) PanEnsembl
- (35) euGenes
- (36) SGD
- (37) FlyBase
- (38) WormBase
- (39) Pseudogene
- (40) DGV
- (41) dbSNP
- (42) GenAtlas
- (43) HGMD
- (44) GAD
- (45) BGMUT
- (46) HuGE
- (47) Atlas
- (48) Cell Signaling Technology
- (49) GenBank
- (50) H-invDB
- (51) HORDE
- (52) HUGE
- (53) IMGT
- (54) Leiden
- (55) miRBase
- (56) DME
- (57) OriGene
- (58) PubMed
- (59) R&D Systems
- (60) TGDB
- (61) Tocris
- (62) Abcam
- (63) Novus Biologicals
- (64) ProSpec
- (65) Sino Biological
- (66) GenScript
- (67) Qiagen
- (68) Cloud-Clone Corp.
- (69) OCA
- (70) Proteopedia
- (71) MOPED
- (72) neXtProt
- (73) Reactome
- (74) GeneGo (Thomson Reuters)
- (75) fRNAdb
- (76) DISEASES
- (77) SIMAP
- (78) GenomeRNAi
- (79) LifeMap
- (80) miRTarBase
- (81) MalaCards
- (82) Invitrogen
- (83) BitterDB
- (84) Vector BioLabs
- (85) ESI-BIO
- (86) RefSeq
- (87) BioSystems
- (88) MaxQB
- (89) IUPHAR
- (90) BioGPS
- (91) Illumina
- (92) COMPARTMENTS
- (93) HOMER
- (94) PaxDb
- (95) ApexBio
- (96) Addgene
- (97) antibodies-online
- (98) CYP
- (99) NONCODE
- (100) SwitchGear Genomics
- (101) TreeFam
- (102) PathCards
- (103) GeneReviews
- (104) GeneTex
- (105) Taconic Biosciences
- (106) GTEx
- (107) ProteomicsDB
- (108) SCBT
- (109) DGIdb
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- (128) ViGene Biosciences
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- (132) FANTOM5
- (133) ENCODE
- (134) ProSci
- (135) Horizon
- (136) NURSA
- (137) IID
- (138) Cyagen
- (139) VectorBuilder
- (140) SNPedia
- (141) BRCA Exchange
- (142) St John's Lab
- (143) CIViC
- (144) ProteoGenix
- (145) dbSUPER
- (146) TISSUES
- (147) Gene ORGANizer
- (148) abm
- (149) CrownBio
- (150) Human Protein Atlas
- (151) GWAS Catalog
- (152) Monarch Initiative
- (153) DataMed
- (154) HumanCyc
- (155) genomics-online
- (156) UCNEbase
- (157) EPDnew
- (158) Applied Biosystems