THG1L
entrez
54974
canonical
uniprot
Q9NWX6
canonical
ensembl
ENSG00000113272
resolver
ensp
ENSP00000231198
resolver
enst
ENST00000231198
resolver
genesymbol
THG1L
resolver
genesymbol_syn
ICF45
resolver
hgnc
HGNC:26053
resolver
uniprot
B4E366
resolver
uniprot
D3DQJ5
resolver
uniprot
Q53G12
resolver
uniprot
Q7L5R3
resolver
uniprot
Q9H0S2
resolver
uniprot
Q9H8R6
resolver
uniprot_entry
B4E366_HUMAN
resolver
uniprot_entry
Q9H8R6_HUMAN
resolver
uniprot_entry
THG1_HUMAN
resolver
uniprot_sec
D3DQJ5
resolver
uniprot_sec
Q53G12
resolver
uniprot_sec
Q7L5R3
resolver
uniprot_sec
Q9H0S2
resolver
amino_acid_sequence
MWGACKVKVHDSLATISITLRRYLRLGATMAKSKFEYVRDFEADDTCLAHCWVVVRLDGRNFHRFAEKHNFAKPNDSRALQLMTKCAQTVMEELEDIVIAYGQSDEYSFVFKRKTNWFKRRASKFMTHVASQFASSYVFYWRDYFEDQPLLYPPGFDGRVVVYPSNQTLKDYLSWRQADCHINNLYNTVFWALIQQSGLTPVQAQGRLQGTLAADKNEILFSEFNINYNNELPMYRKGTVLIWQKVDEVMTKEIKLPTEMEGKKMAVTRTRTKPVPLHCDIIGDAFWKEHPEILDEDS
uniprot
proteins
disease_involvement
DISEASE: Spinocerebellar ataxia, autosomal recessive, 28 (SCAR28) [MIM:618800]: 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. {ECO:0000269|PubMed:27307223, ECO:0000269|PubMed:31168944}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
2.7.7.79
uniprot
proteins
function
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 (Probable). Also functions as a guanyl-nucleotide exchange factor/GEF for the MFN1 and MFN2 mitofusins thereby regulating mitochondrial fusion (PubMed:25008184, PubMed:27307223). By regulating both mitochondrial dynamics and bioenergetic function, it contributes to cell survival following oxidative stress (PubMed:25008184, PubMed:27307223). {ECO:0000269|PubMed:25008184, ECO:0000269|PubMed:27307223, ECO:0000305|PubMed:21059936}.
uniprot
proteins
mass_dalton
34831
uniprot
proteins
mutagenesis
MUTAGEN 58; /note="D->A: Reduces activity by 99.5%."; /evidence="ECO:0000269|PubMed:21059936"; MUTAGEN 63; /note="H->A: Slightly reduced enzyme activity."; /evidence="ECO:0000269|PubMed:21059936"; MUTAGEN 104; /note="S->A: Slightly reduced enzyme activity."; /evidence="ECO:0000269|PubMed:21059936"; MUTAGEN 105; /note="D->A: Loss of enzyme activity."; /evidence="ECO:0000269|PubMed:21059936"; MUTAGEN 106; /note="E->A: Reduces activity by 95%."; /evidence="ECO:0000269|PubMed:21059936"; MUTAGEN 127; /note="T->A: Abolishes oligomerization. Loss of enzyme activity."; /evidence="ECO:0000269|PubMed:21059936"; MUTAGEN 181; /note="H->A: Loss of enzyme activity."; /evidence="ECO:0000269|PubMed:21059936"; MUTAGEN 216; /note="K->A: Reduces activity by 98.5%."; /evidence="ECO:0000269|PubMed:21059936"; MUTAGEN 227; /note="N->A: Loss of enzyme activity."; /evidence="ECO:0000269|PubMed:21059936
uniprot
proteins
protein_family
TRNA(His) guanylyltransferase family
uniprot
proteins
pubmed
11230166
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15459185
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
21059936
uniprot
proteins
pubmed
25008184
uniprot
proteins
pubmed
27307223
uniprot
proteins
pubmed
30214071
uniprot
proteins
pubmed
31168944
uniprot
proteins
sequence_length
298
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:15459185}. Mitochondrion outer membrane {ECO:0000305|PubMed:25008184}.
uniprot
proteins