PUS1
entrez
80324
canonical
uniprot
Q9Y606
canonical
ensembl
ENSG00000177192
resolver
ensp
ENSP00000365837
resolver
ensp
ENSP00000392451
resolver
genesymbol
PUS1
resolver
hgnc
HGNC:15508
resolver
uniprot
A8K877
resolver
uniprot
B3KQC1
resolver
uniprot
E5KMT5
resolver
uniprot
E5KMT6
resolver
uniprot
Q8WYT2
resolver
uniprot
Q9BU44
resolver
uniprot_entry
E5KMT5_HUMAN
resolver
uniprot_entry
E5KMT6_HUMAN
resolver
uniprot_entry
PUS1_HUMAN
resolver
uniprot_sec
A8K877
resolver
uniprot_sec
B3KQC1
resolver
uniprot_sec
Q8WYT2
resolver
uniprot_sec
Q9BU44
resolver
amino_acid_sequence
MGLQLRALLGAFGRWTLRLGPRPSCSPRMAGNAEPPPAGAACPQDRRSCSGRAGGDRVWEDGEHPAKKLKSGGDEERREKPPKRKIVLLMAYSGKGYHGMQRNVGSSQFKTIEDDLVSALVRSGCIPENHGEDMRKMSFQRCARTDKGVSAAGQVVSLKVWLIDDILEKINSHLPSHIRILGLKRVTGGFNSKNRCDARTYCYLLPTFAFAHKDRDVQDETYRLSAETLQQVNRLLACYKGTHNFHNFTSQKGPQDPSACRYILEMYCEEPFVREGLEFAVIRVKGQSFMMHQIRKMVGLVVAIVKGYAPESVLERSWGTEKVDVPKAPGLGLVLERVHFEKYNQRFGNDGLHEPLDWAQEEGKVAAFKEEHIYPTIIGTERDERSMAQWLSTLPIHNFSATALTAGGTGAKVPSPLEGSEGDGDTD
uniprot
proteins
disease_involvement
DISEASE: Myopathy with lactic acidosis and sideroblastic anemia 1 (MLASA1) [MIM:600462]: A rare oxidative phosphorylation disorder specific to skeletal muscle and bone marrow. Affected individuals manifest progressive muscle weakness, exercise intolerance, lactic acidosis, sideroblastic anemia and delayed growth. {ECO:0000269|PubMed:15108122, ECO:0000269|PubMed:15772074, ECO:0000269|PubMed:15971356, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17056637, ECO:0000269|PubMed:19731322, ECO:0000269|PubMed:21686963, ECO:0000269|PubMed:25227147, ECO:0000269|PubMed:26556812, ECO:0000269|PubMed:28832011, ECO:0000269|PubMed:32287105}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
5.4.99.-
uniprot
proteins
ec_number
5.4.99.12
uniprot
proteins
function
FUNCTION: Pseudouridylate synthase that catalyzes pseudouridylation of tRNAs and mRNAs (PubMed:15772074, PubMed:24722331). Acts on positions 27/28 in the anticodon stem and also positions 34 and 36 in the anticodon of an intron containing tRNA (PubMed:24722331). Also catalyzes pseudouridylation of mRNAs: mediates pseudouridylation of mRNAs with the consensus sequence 5'-UGUAG-3' (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). Involved in regulation of nuclear receptor activity through pseudouridylation of SRA1 mRNA (PubMed:24722331). {ECO:0000269|PubMed:15772074, ECO:0000269|PubMed:24722331, ECO:0000269|PubMed:31477916, ECO:0000269|PubMed:35051350}.
uniprot
proteins
mass_dalton
47470
uniprot
proteins
mutagenesis
MUTAGEN 146; /note="D->A: Loss of enzyme activity."; /evidence="ECO:0000269|PubMed:24722331
uniprot
proteins
protein_family
TRNA pseudouridine synthase TruA family
uniprot
proteins
pubmed
10094309
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15108122
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15498874
uniprot
proteins
pubmed
15772074
uniprot
proteins
pubmed
15971356
uniprot
proteins
pubmed
16959974
uniprot
proteins
pubmed
17056637
uniprot
proteins
pubmed
17081983
uniprot
proteins
pubmed
18669648
uniprot
proteins
pubmed
19413330
uniprot
proteins
pubmed
19731322
uniprot
proteins
pubmed
20068231
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
21406692
uniprot
proteins
pubmed
21686963
uniprot
proteins
pubmed
22814378
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
23707380
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
24722331
uniprot
proteins
pubmed
25227147
uniprot
proteins
pubmed
25944712
uniprot
proteins
pubmed
26556812
uniprot
proteins
pubmed
28832011
uniprot
proteins
pubmed
31477916
uniprot
proteins
pubmed
32287105
uniprot
proteins
pubmed
35051350
uniprot
proteins
sequence_length
427
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: [Isoform 1]: Mitochondrion {ECO:0000269|PubMed:17056637, ECO:0000305|PubMed:15772074}.; SUBCELLULAR LOCATION: [Isoform 2]: Nucleus {ECO:0000269|PubMed:17056637, ECO:0000305|PubMed:15772074}. Cytoplasm {ECO:0000305|PubMed:15772074}.
uniprot
proteins