THG1L

Protein identityUniProt · HPA

UniProt accession

Q9NWX6

Gene

THG1L

Ensembl

ENSG00000113272

Chromosome

5

Canonical length

298 aa

Protein class

Disease related genes, Enzymes, Human disease related genes, Potential drug targets, Predicted intracellular proteins

Quaternary structure

Homotetramer

OverviewNCBI 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]

Canonical amino-acid sequenceUniProt

298 residues, UniProt reviewed canonical sequence.

>Q9NWX6|THG1L
     1  MWGACKVKVH DSLATISITL RRYLRLGATM AKSKFEYVRD FEADDTCLAH CWVVVRLDGR
    61  NFHRFAEKHN FAKPNDSRAL QLMTKCAQTV MEELEDIVIA YGQSDEYSFV FKRKTNWFKR
   121  RASKFMTHVA SQFASSYVFY WRDYFEDQPL LYPPGFDGRV VVYPSNQTLK DYLSWRQADC
   181  HINNLYNTVF WALIQQSGLT PVQAQGRLQG TLAADKNEIL FSEFNINYNN ELPMYRKGTV
   241  LIWQKVDEVM TKEIKLPTEM EGKKMAVTRT RTKPVPLHCD IIGDAFWKEH PEILDEDS

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against THG1L can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability

Other membrane

Secreted

No

Transmembrane segments

0

Mean surface accessibility (rSASA)

0.34

Highest tissue expression

7.5 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about THG1L.

Disease | AllUniProt

Conditions THG1L is implicated in, by any mechanism.

• Spinocerebellar ataxia, autosomal recessive, 28 (SCAR28) MIM:618800

Disease | GeneticClinVar

5 pathogenic / likely-pathogenic of 78 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Spinocerebellar ataxia, autosomal recessive 28
• THG1L-related disorder
• Neurodevelopmental disorder

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)

1.03

gnomAD pLI

0

gnomAD missense Z

0.03

DepMap mean gene effect

-0.84

DepMap dependency class

common

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 6% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• mitochondrial fusion
• protein homotetramerization
• response to oxidative stress
• stress-induced mitochondrial fusion
• tRNA modification
• tRNA processing

Molecular functions

• ATP binding
• GTP binding
• guanyl-nucleotide exchange factor activity
• identical protein binding
• magnesium ion binding
• nucleotidyltransferase activity
• tRNA binding
• tRNA guanylyltransferase activity

Cellular components

• cytosol
• mitochondrial outer membrane
• mitochondrion
• transferase complex

Protein domainsUniProt · Pfam · InterPro

• tRNAHis guanylyltransferase Thg1
• tRNAHis guanylyltransferase catalytic domain
• Thg1 C-terminal domain
• tRNAHis guanylyltransferase Thg1 superfamily
• tRNAHis guanylyltransferase
• Thg1 C terminal domain

KeywordsUniProt

• Cytoplasm
• GTP-binding
• Magnesium
• Membrane
• Metal-binding
• Mitochondrion
• Mitochondrion outer membrane
• Neurodegeneration
• Nucleotide-binding
• Nucleotidyltransferase
• Transferase
• tRNA processing

InteractionsUniProt · HPA

Protein binding partners of THG1L in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

• MFN1
• MFN2