InnateDB Protein
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IDBP-65095.6
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Last Modified
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2014-10-13 [Report errors or provide feedback]
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Gene Symbol
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PUS1
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Protein Name
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pseudouridylate synthase 1
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Synonyms
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Species
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Homo sapiens
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Ensembl Protein
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ENSP00000365837
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InnateDB Gene
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IDBG-65093 (PUS1)
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Protein Structure
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Function |
Converts specific uridines to PSI in a number of tRNA substrates. Acts on positions 27/28 in the anticodon stem and also positions 34 and 36 in the anticodon of an intron containing tRNA. Involved in regulation of nuclear receptor activity possibly through pseudouridylation of SRA1 RNA (By similarity). {ECO:0000250}.
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Subcellular Localization |
Isoform 1: Mitochondrion {ECO:0000269PubMed:17056637}.Isoform 2: Nucleus {ECO:0000269PubMed:17056637}.
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Disease Associations |
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:0000269PubMed:15108122}. Note=The disease is caused by mutations affecting the gene represented in this entry.
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Tissue Specificity |
Widely expressed. High levels of expression found in brain and skeletal muscle. {ECO:0000269PubMed:15108122}.
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Comments |
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Number of Interactions
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This gene and/or its encoded proteins are associated with 25 experimentally validated interaction(s) in this database.
They are also associated with 1 interaction(s) predicted by orthology.
Experimentally validated |
Total |
25
[view]
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Protein-Protein |
25
[view]
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Protein-DNA |
0
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Protein-RNA |
0
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DNA-DNA |
0
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RNA-RNA |
0
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DNA-RNA |
0
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Predicted by orthology |
Total |
1 [view]
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Molecular Function |
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Biological Process |
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Cellular Component |
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PDB ID |
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InterPro |
IPR001406
Pseudouridine synthase I, TruA
IPR020097
Pseudouridine synthase I, TruA, alpha/beta domain
IPR020103
Pseudouridine synthase, catalytic domain
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PFAM |
PF01416
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PRINTS |
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PIRSF |
PIRSF001430
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SMART |
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TIGRFAMs |
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Modification |
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SwissProt |
Q9Y606
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PhosphoSite |
PhosphoSite-Q9Y606
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TrEMBL |
G8JLB3
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UniProt Splice Variant |
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Entrez Gene |
80324
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UniGene |
Hs.592004
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RefSeq |
NP_079491
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HUGO |
HGNC:15508
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OMIM |
608109
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CCDS |
CCDS9275
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HPRD |
10481
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IMGT |
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EMBL |
AC131009
AF116238
AF318369
AK074659
AK292242
BC002901
BC009505
BC019320
CH471054
HQ205066
HQ205067
HQ205068
HQ205069
HQ205070
HQ205071
HQ205072
HQ205073
HQ205074
HQ205075
HQ205076
HQ205077
HQ205078
HQ205079
HQ205080
HQ205081
HQ205082
HQ205083
HQ205084
HQ205085
HQ205086
HQ205087
HQ205088
HQ205089
HQ205090
HQ205091
HQ205092
HQ205093
HQ205094
HQ205095
HQ205096
HQ205097
HQ205098
HQ205099
HQ205100
HQ205101
HQ205102
HQ205103
HQ205104
HQ205105
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GenPept |
AAD21042
AAH02901
AAH09505
AAH19320
AAL55876
ADP90494
ADP90495
ADP90496
ADP90497
ADP90498
ADP90499
ADP90500
ADP90501
ADP90502
ADP90503
ADP90504
ADP90505
ADP90506
ADP90507
ADP90508
ADP90509
ADP90510
ADP90511
ADP90512
ADP90513
ADP90514
ADP90515
ADP90516
ADP90517
ADP90518
ADP90519
ADP90520
ADP90521
ADP90522
ADP90523
ADP90524
ADP90525
ADP90526
ADP90527
ADP90528
ADP90529
ADP90530
ADP90531
ADP90532
ADP90533
ADP90534
ADP90535
ADP90536
ADP90537
ADP90538
ADP90539
ADP90540
ADP90541
ADP90542
ADP90543
ADP90544
ADP90545
ADP90546
ADP90547
ADP90548
ADP90549
ADP90550
ADP90551
ADP90552
ADP90553
ADP90554
ADP90555
ADP90556
ADP90557
ADP90558
ADP90559
ADP90560
ADP90561
ADP90562
ADP90563
ADP90564
ADP90565
ADP90566
ADP90567
ADP90568
ADP90569
ADP90570
ADP90571
ADP90572
ADP90573
BAF84931
BAG51983
EAW98530
EAW98533
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