PUS3
entrez
83480
canonical
uniprot
Q9BZE2
canonical
ensembl
ENSG00000110060
resolver
ensp
ENSP00000227474
resolver
ensp
ENSP00000432386
resolver
ensp
ENSP00000481536
resolver
ensp
ENSP00000607623
resolver
ensp
ENSP00000671710
resolver
ensp
ENSP00000671711
resolver
enst
ENST00000227474
resolver
enst
ENST00000530811
resolver
enst
ENST00000613398
resolver
enst
ENST00000937564
resolver
genesymbol
PUS3
resolver
hgnc
HGNC:25461
resolver
uniprot
A0A087WY59
resolver
uniprot
B2RAM0
resolver
uniprot
Q96D17
resolver
uniprot
Q96J23
resolver
uniprot
Q96NB4
resolver
uniprot_entry
A0A087WY59_HUMAN
resolver
uniprot_entry
PUS3_HUMAN
resolver
uniprot_sec
B2RAM0
resolver
uniprot_sec
Q96D17
resolver
uniprot_sec
Q96J23
resolver
uniprot_sec
Q96NB4
resolver
amino_acid_sequence
MAYNDTDRNQTEKLLKRVRELEQEVQRLKKEQAKNKEDSNIRENSAGAGKTKRAFDFSAHGRRHVALRIAYMGWGYQGFASQENTNNTIEEKLFEALTKTRLVESRQTSNYHRCGRTDKGVSAFGQVISLDLRSQFPRGRDSEDFNVKEEANAAAEEIRYTHILNRVLPPDIRILAWAPVEPSFSARFSCLERTYRYFFPRADLDIVTMDYAAQKYVGTHDFRNLCKMDVANGVINFQRTILSAQVQLVGQSPGEGRWQEPFQLCQFEVTGQAFLYHQVRCMMAILFLIGQGMEKPEIIDELLNIEKNPQKPQYSMAVEFPLVLYDCKFENVKWIYDQEAQEFNITHLQQLWANHAVKTHMLYSMLQGLDTVPVPCGIGPKMDGMTEWGNVKPSVIKQTSAFVEGVKMRTYKPLMDRPKCQGLESRIQHFVRRGRIEHPHLFHEEETKAKRDCNDTLEEENTNLETPTKRVCVDTEIKSII
uniprot
proteins
disease_involvement
DISEASE: Neurodevelopmental disorder with microcephaly and gray sclerae (NEDMIGS) [MIM:617051]: An autosomal recessive disorder characterized by global developmental delay, hypotonia, profoundly impaired intellectual development with poor or absent language, mild microcephaly, abnormal visual fixation, and seizures in most patients. Affected individuals also have gray sclerae. {ECO:0000269|PubMed:27055666}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
5.4.99.45
uniprot
proteins
function
FUNCTION: Formation of pseudouridine at position 39 in the anticodon stem and loop of transfer RNAs. {ECO:0000269|PubMed:27055666}.
uniprot
proteins
mass_dalton
55647
uniprot
proteins
protein_family
TRNA pseudouridine synthase TruA family
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
18669648
uniprot
proteins
pubmed
19413330
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
27055666
uniprot
proteins
sequence_length
481
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Nucleus {ECO:0000305}.
uniprot
proteins