PUS7
entrez
54517
canonical
uniprot
Q96PZ0
canonical
ensembl
ENSG00000091127
resolver
ensp
ENSP00000348722
resolver
ensp
ENSP00000417402
resolver
ensp
ENSP00000418794
resolver
ensp
ENSP00000544039
resolver
ensp
ENSP00000544041
resolver
ensp
ENSP00000617359
resolver
ensp
ENSP00000617360
resolver
genesymbol
PUS7
resolver
genesymbol_syn
KIAA1897
resolver
hgnc
HGNC:26033
resolver
uniprot
B3KRB2
resolver
uniprot
B3KY42
resolver
uniprot
Q75MG4
resolver
uniprot
Q9NX19
resolver
uniprot_entry
B3KRB2_HUMAN
resolver
uniprot_entry
B3KY42_HUMAN
resolver
uniprot_entry
PUS7_HUMAN
resolver
uniprot_sec
Q75MG4
resolver
uniprot_sec
Q9NX19
resolver
amino_acid_sequence
MEMTEMTGVSLKRGALVVEDNDSGVPVEETKKQKLSECSLTKGQDGLQNDFLSISEDVPRPPDTVSTGKGGKNSEAQLEDEEEEEEDGLSEECEEEESESFADMMKHGLTEADVGITKFVSSHQGFSGILKERYSDFVVHEIGKDGRISHLNDLSIPVDEEDPSEDIFTVLTAEEKQRLEELQLFKNKETSVAIEVIEDTKEKRTIIHQAIKSLFPGLETKTEDREGKKYIVAYHAAGKKALANPRKHSWPKSRGSYCHFVLYKENKDTMDAINVLSKYLRVKPNIFSYMGTKDKRAITVQEIAVLKITAQRLAHLNKCLMNFKLGNFSYQKNPLKLGELQGNHFTVVLRNITGTDDQVQQAMNSLKEIGFINYYGMQRFGTTAVPTYQVGRAILQNSWTEVMDLILKPRSGAEKGYLVKCREEWAKTKDPTAALRKLPVKRCVEGQLLRGLSKYGMKNIVSAFGIIPRNNRLMYIHSYQSYVWNNMVSKRIEDYGLKPVPGDLVLKGATATYIEEDDVNNYSIHDVVMPLPGFDVIYPKHKIQEAYREMLTADNLDIDNMRHKIRDYSLSGAYRKIIIRPQNVSWEVVAYDDPKIPLFNTDVDNLEGKTPPVFASEGKYRALKMDFSLPPSTYATMAIREVLKMDTSIKNQTQLNTTWLR
uniprot
proteins
disease_involvement
DISEASE: Intellectual developmental disorder with abnormal behavior, microcephaly, and short stature (IDDABS) [MIM:618342]: An autosomal recessive disorder characterized by intellectual disability, developmental delay with poor or absent speech, short stature, progressive microcephaly, hyperactivity and aggressive behavior. Some patients manifest sensorineural hearing loss. {ECO:0000269|PubMed:30526862, ECO:0000269|PubMed:30778726, ECO:0000269|PubMed:31583274, ECO:0000269|PubMed:33100873, ECO:0000269|PubMed:34718722, ECO:0000269|PubMed:35144859}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
5.4.99.-
uniprot
proteins
function
FUNCTION: Pseudouridylate synthase that catalyzes pseudouridylation of RNAs (PubMed:28073919, PubMed:29628141, PubMed:30778726, PubMed:31477916, PubMed:34718722, PubMed:35051350). Acts as a regulator of protein synthesis in embryonic stem cells by mediating pseudouridylation of RNA fragments derived from tRNAs (tRFs): pseudouridylated tRFs inhibit translation by targeting the translation initiation complex (PubMed:29628141). Also catalyzes pseudouridylation of mRNAs: mediates pseudouridylation of mRNAs with the consensus sequence 5'-UGUAG-3' (PubMed:28073919, PubMed:31477916, PubMed:35051350). Acts as a regulator of pre-mRNA splicing by mediating pseudouridylation of pre-mRNAs at locations associated with alternatively spliced regions (PubMed:35051350). Pseudouridylation of pre-mRNAs near splice sites directly regulates mRNA splicing and mRNA 3'-end processing (PubMed:35051350). In addition to mRNAs and tRNAs, binds other types of RNAs, such as snRNAs, Y RNAs and vault RNAs, suggesting that it can catalyze pseudouridylation of many RNA types (PubMed:29628141). {ECO:0000269|PubMed:28073919, ECO:0000269|PubMed:29628141, ECO:0000269|PubMed:30778726, ECO:0000269|PubMed:31477916, ECO:0000269|PubMed:34718722, ECO:0000269|PubMed:35051350}.
uniprot
proteins
mass_dalton
75035
uniprot
proteins
mutagenesis
MUTAGEN 294; /note="D->A: Loss of pseudouridylate synthase activity."; /evidence="ECO:0000269|PubMed:29628141, ECO:0000269|PubMed:34718722
uniprot
proteins
protein_family
Pseudouridine synthase TruD family
uniprot
proteins
pubmed
11572484
uniprot
proteins
pubmed
12853948
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
19413330
uniprot
proteins
pubmed
19690332
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
22814378
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
28073919
uniprot
proteins
pubmed
29628141
uniprot
proteins
pubmed
30526862
uniprot
proteins
pubmed
30778726
uniprot
proteins
pubmed
31451225
uniprot
proteins
pubmed
31477916
uniprot
proteins
pubmed
31583274
uniprot
proteins
pubmed
33100873
uniprot
proteins
pubmed
34718722
uniprot
proteins
pubmed
35051350
uniprot
proteins
pubmed
35144859
uniprot
proteins
sequence_length
661
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:29628141, ECO:0000269|PubMed:35144859}.
uniprot
proteins