Entity Details

Primary name THG1_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionQ9NWX6
EntryNameTHG1_HUMAN
FullNameProbable tRNA(His) guanylyltransferase
TaxID9606
Evidenceevidence at protein level
Length298
SequenceStatuscomplete
DateCreated2007-05-01
DateModified2021-06-02

Ontological Relatives

GenesTHG1L

GO terms

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GOName
GO:0000049 tRNA binding
GO:0000287 magnesium ion binding
GO:0005085 guanyl-nucleotide exchange factor activity
GO:0005524 ATP binding
GO:0005525 GTP binding
GO:0005739 mitochondrion
GO:0005741 mitochondrial outer membrane
GO:0005829 cytosol
GO:0006400 tRNA modification
GO:0006979 response to oxidative stress
GO:0008033 tRNA processing
GO:0008053 mitochondrial fusion
GO:0008193 tRNA guanylyltransferase activity
GO:0016779 nucleotidyltransferase activity
GO:0042802 identical protein binding
GO:0051289 protein homotetramerization
GO:1990046 stress-induced mitochondrial fusion
GO:1990234 transferase complex

Subcellular Location

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Subcellular Location
Cytoplasm
Mitochondrion outer membrane

Domains

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DomainNameCategoryType
IPR007537 tRNAHis guanylyltransferase Thg1FamilyFamily
IPR024956 tRNAHis guanylyltransferase catalytic domainDomainDomain
IPR025845 Thg1 C-terminal domainDomainDomain
IPR038469 tRNAHis guanylyltransferase Thg1 superfamilyFamilyHomologous superfamily

Diseases

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Disease IDSourceNameDescription
618800 OMIMSpinocerebellar ataxia, autosomal recessive, 28 (SCAR28)A form of spinocerebellar ataxia, a clinically and genetically heterogeneous group of cerebellar disorders due to degeneration of the cerebellum with variable involvement of the brainstem and spinal cord. SCAR28 patients manifest mild motor developmental delay, gait ataxia, and dysarthria. Some patients show mildly impaired intellectual development. Disease onset is in early childhood. The disease is caused by variants affecting the gene represented in this entry.

Interactions

8 interactions