THUMPD1
entrez
55623
canonical
uniprot
Q9NXG2
canonical
ensembl
ENSG00000066654
resolver
ensp
ENSP00000370741
resolver
ensp
ENSP00000379392
resolver
ensp
ENSP00000490841
resolver
ensp
ENSP00000558438
resolver
enst
ENST00000381337
resolver
enst
ENST00000396083
resolver
enst
ENST00000636554
resolver
enst
ENST00000888379
resolver
genesymbol
THUMPD1
resolver
hgnc
HGNC:23807
resolver
uniprot
Q9BWC3
resolver
uniprot_entry
THUM1_HUMAN
resolver
uniprot_sec
Q9BWC3
resolver
amino_acid_sequence
MAAPAQQTTQPGGGKRKGKAQYVLAKRARRCDAGGPRQLEPGLQGILITCNMNERKCVEEAYSLLNEYGDDMYGPEKFTDKDQQPSGSEGEDDDAEAALKKEVGDIKASTEMRLRRFQSVESGANNVVFIRTLGIEPEKLVHHILQDMYKTKKKKTRVILRMLPISGTCKAFLEDMKKYAETFLEPWFKAPNKGTFQIVYKSRNNSHVNREEVIRELAGIVCTLNSENKVDLTNPQYTVVVEIIKAVCCLSVVKDYMLFRKYNLQEVVKSPKDPSQLNSKQGNGKEAKLESADKSDQNNTAEGKNNQQVPENTEELGQTKPTSNPQVVNEGGAKPELASQATEGSKSNENDFS
uniprot
proteins
disease_involvement
DISEASE: Neurodevelopmental disorder with speech delay and variable ocular anomalies (NEDSOA) [MIM:619989]: An autosomal recessive disorder characterized by global developmental delay, speech delay, moderate to severe intellectual deficiency, behavioral abnormalities such as angry outbursts, facial dysmorphism, and ophthalmological abnormalities. Brain imaging is usually normal, but abnormalities of the corpus callosum have been reported. {ECO:0000269|PubMed:30237576, ECO:0000269|PubMed:35196516}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Functions as a tRNA-binding adapter to mediate NAT10-dependent tRNA acetylation modifying cytidine to N4-acetylcytidine (ac4C) (PubMed:25653167, PubMed:35196516). {ECO:0000269|PubMed:25653167, ECO:0000269|PubMed:35196516}.
uniprot
proteins
mass_dalton
39315
uniprot
proteins
protein_family
THUMPD1 family
uniprot
proteins
pubmed
10493829
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
17081983
uniprot
proteins
pubmed
18318008
uniprot
proteins
pubmed
18669648
uniprot
proteins
pubmed
19367720
uniprot
proteins
pubmed
19413330
uniprot
proteins
pubmed
19690332
uniprot
proteins
pubmed
20068231
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
22814378
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
25653167
uniprot
proteins
pubmed
30237576
uniprot
proteins
pubmed
35196516
uniprot
proteins
sequence_length
353
uniprot
proteins