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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 (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.
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 |
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 |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | tRNA processing |
.55
|
|
2 | Gene Expression |
.48
|
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 | -- |
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 |
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
---|---|---|---|---|---|---|
pyrophosphate |
|
14000-31-8 |
|
ExUns: | 1a | · | 1b | · | 1c | · | 1d | ^ | 2a | · | 2b | ^ | 3a | · | 3b | · | 3c | ^ | 4 | ^ | 5 | ^ | 6a | · | 6b |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | |||||||||||||||||||||||||
SP2: | - | - | |||||||||||||||||||||||
SP3: | - | - | |||||||||||||||||||||||
SP4: |
This gene was present in the common ancestor of eukaryotes.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | THG1L 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | THG1L 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | THG1L 30 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Thg1l 30 |
|
||
Mouse (Mus musculus) |
Mammalia | Thg1l 30 17 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | THG1L 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | THG1L 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | THG1L 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | THG1L 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | LOC101733043 30 |
|
||
Str.13696 30 |
|
||||
African clawed frog (Xenopus laevis) |
Amphibia | Xl.10272 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | thg1l 30 31 |
|
OneToOne | |
Dr.16865 30 |
|
||||
Rainbow Trout (Oncorhynchus mykiss) |
Actinopterygii | Omy.8574 30 |
|
||
Fruit Fly (Drosophila melanogaster) |
Insecta | l(2)35Bc 30 31 |
|
OneToOne | |
African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP011752 30 |
|
||
Baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | THG1 30 31 33 |
|
OneToOne | |
K. Lactis Yeast (Kluyveromyces lactis) |
Saccharomycetes | KLLA0B06237g 30 |
|
||
A. gosspyii yeast (Eremothecium gossypii) |
Saccharomycetes | AGOS_ABR031C 30 |
|
||
Thale Cress (Arabidopsis thaliana) |
eudicotyledons | AT2G31580 30 |
|
||
Rice (Oryza sativa) |
Liliopsida | Os05g0535500 30 |
|
||
Fission Yeast (Schizosaccharomyces pombe) |
Schizosaccharomycetes | SPCC63.07 30 |
|
||
Bread mold (Neurospora crassa) |
Ascomycetes | NCU02105 30 |
|
||
Sea Squirt (Ciona savignyi) |
Ascidiacea | CSA.5403 31 |
|
OneToOne |
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 |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
esv2759389 | CNV | loss | 17122850 |
Disorder | Aliases | PubMed IDs |
---|---|---|
spinocerebellar ataxia, autosomal recessive 28 |
|
|
renal fibrosis |
|
|