Gene: PUS1 (pseudouridylate synthase 1)
Homo sapiens
Symbol:
PUS1
Name:
pseudouridylate synthase 1
Description:
This gene encodes a pseudouridine synthase that converts uridine to pseudouridine once it has been incorporated into an RNA molecule. The encoded enzyme may play an essential role in tRNA function and in stabilizing the secondary and tertiary structure of many RNAs. A mutation in this gene has been linked to mitochondrial myopathy and sideroblastic anemia. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Sep 2009]
Type:
protein-coding
RefSeq Status:
REVIEWED
Also known as:
MGC11268; mitochondrial tRNA pseudouridine synthase A; MLASA; MLASA1; OTTHUMP00000158623; OTTHUMP00000237726; OTTHUMP00000237727; OTTHUMP00000237728; tRNA pseudouridine synthase A; tRNA pseudouridine synthase A, mitochondrial; tRNA pseudouridine(38-40) synthase; tRNA pseudouridylate synthase I; tRNA uridine isomerase I; tRNA-uridine isomerase I
Orthologs:
Mus musculus : Pus1
(pseudouridine synthase 1)
MGI
Pus1
(pseudouridylate synthase 1)
Latest Assembly:
Human Genome Assembly GRCh37
Position:
Map Chr Position Strand Source Human Alternate Assembly CHM1_1 12 132,217,612 - 132,232,265 + NCBI Human Genome Assembly HuRef 12 129,299,517 - 129,314,189 + NCBI Human Genome Assembly GRCh37 12 132,413,745 - 132,428,406 + NCBI Human Celera Assembly 12 132,032,281 - 132,046,846 + NCBI Human Genome Assembly Build 36 12 130,979,742 - 130,994,357 + NCBI Human Cytogenetic Map 12 q24.33 NCBI Human Genome Assembly 12 131,080,271 - 131,094,632 NCBI
Model
Disease Annotations
Gene-Chemical Interaction Annotations
17alpha-ethynylestradiol multiple interactions ISO RGD:1323554 6480464 [Tetrachlorodibenzodioxin co-treated with Ethinyl Estradiol] results in increased expression of PUS1 mRNA CTD PMID:17942748 17beta-estradiol increases expression EXP 6480464 Estradiol results in increased expression of PUS1 mRNA CTD PMID:20106945 17beta-estradiol increases expression EXP 6480464 Estradiol results in increased expression of PUS1 mRNA CTD PMID:20106945 PMID:23019147 2,3,7,8-tetrachlorodibenzodioxine multiple interactions ISO RGD:1323554 6480464 [Tetrachlorodibenzodioxin co-treated with Ethinyl Estradiol] results in increased expression of PUS1 mRNA CTD PMID:17942748 2,3,7,8-tetrachlorodibenzodioxine affects expression ISO RGD:1323554 6480464 Tetrachlorodibenzodioxin affects the expression of PUS1 mRNA CTD PMID:21570461 2,3,7,8-tetrachlorodibenzodioxine multiple interactions ISO RGD:1323554 6480464 Tetrachlorodibenzodioxin promotes the reaction [AHR protein binds to PUS1 promoter] CTD PMID:19654925 2,4-dinitrotoluene affects expression ISO RGD:1311871 6480464 2,4-dinitrotoluene affects the expression of PUS1 mRNA CTD PMID:21346803 2,6-dinitrotoluene affects expression ISO RGD:1311871 6480464 2,6-dinitrotoluene affects the expression of PUS1 mRNA CTD PMID:21346803 2-methylcholine affects expression EXP 6480464 beta-methylcholine affects the expression of PUS1 mRNA CTD PMID:21179406 3,3',4,4',5-pentachlorobiphenyl increases expression EXP 6480464 3,4,5,3',4'-pentachlorobiphenyl results in increased expression of PUS1 mRNA CTD PMID:19692669 acetylsalicylic acid increases expression EXP 6480464 Aspirin results in increased expression of PUS1 mRNA CTD PMID:15456535 aflatoxin B1 affects expression EXP 6480464 Aflatoxin B1 affects the expression of PUS1 protein CTD PMID:20106945 cisplatin increases phosphorylation ISO RGD:1323554 6480464 Cisplatin results in increased phosphorylation of PUS1 protein CTD PMID:22006019 clofibric acid multiple interactions ISO RGD:1311871 6480464 [Diethylnitrosamine co-treated with Clofibric Acid] affects the expression of PUS1 mRNA CTD PMID:17602206 copper(2+) sulfate decreases expression EXP 6480464 Copper Sulfate results in decreased expression of PUS1 mRNA CTD PMID:19549813 cyclosporin A increases expression EXP 6480464 Cyclosporine results in increased expression of PUS1 mRNA CTD PMID:20106945 dibutyl phthalate decreases expression ISO RGD:1311871 6480464 Dibutyl Phthalate results in decreased expression of PUS1 mRNA CTD PMID:21266533 disodium selenite increases expression EXP 6480464 Sodium Selenite results in increased expression of PUS1 mRNA CTD PMID:18175754 genistein increases expression EXP 6480464 Genistein results in increased expression of PUS1 mRNA CTD PMID:23019147 N-nitrosodiethylamine multiple interactions ISO RGD:1311871 6480464 [Diethylnitrosamine co-treated with Clofibric Acid] affects the expression of PUS1 mRNA CTD PMID:17602206 pirinixic acid multiple interactions ISO RGD:1323554 6480464 [pirinixic acid binds to and results in increased activity of PPARA protein] which results in increased expression of PUS1 mRNA CTD PMID:19710929
Biological Process positive regulation of transcription from RNA polymerase II promoter IEA Ensembl:ENSMUSP00000083844 2290271 GO_REF:0000019 ENSEMBL GO_REF:0000019 pseudouridine synthesis IEA InterPro:IPR001406|InterPro:IPR020094|InterPro:IPR020095|InterPro:IPR020097|InterPro:IPR020103 2290271 GO_REF:0000002 InterPro GO_REF:0000002 pseudouridine synthesis IEA InterPro:IPR001406|InterPro:IPR020094|InterPro:IPR020103 2290271 GO_REF:0000002 InterPro GO_REF:0000002 tRNA processing NAS 2290271 GO_REF:0000029 UniProtKB GO_REF:0000029 tRNA processing IEA UniProtKB-KW:KW-0819 2290271 GO_REF:0000038 UniProtKB GO_REF:0000038 tRNA pseudouridine synthesis IEA Ensembl:ENSMUSP00000083844 2290271 GO_REF:0000019 ENSEMBL GO_REF:0000019 Cellular Component mitochondrion IEA UniProtKB-SubCell:SL-0173 2290271 GO_REF:0000039 UniProtKB GO_REF:0000039 nucleolus IEA Ensembl:ENSMUSP00000083844 2290271 GO_REF:0000019 ENSEMBL GO_REF:0000019 nucleus NAS 2290271 GO_REF:0000029 UniProtKB GO_REF:0000029 transcription factor complex IEA Ensembl:ENSMUSP00000083844 2290271 GO_REF:0000019 ENSEMBL GO_REF:0000019 Molecular Function DNA binding IEA Ensembl:ENSMUSP00000083844 2290271 GO_REF:0000019 ENSEMBL GO_REF:0000019 ligand-dependent nuclear receptor transcription coactivator activity IEA Ensembl:ENSMUSP00000083844 2290271 GO_REF:0000019 ENSEMBL GO_REF:0000019 pseudouridine synthase activity IEA Ensembl:ENSMUSP00000083844 2290271 GO_REF:0000019 ENSEMBL GO_REF:0000019 pseudouridine synthase activity IEA InterPro:IPR001406|InterPro:IPR020094|InterPro:IPR020095|InterPro:IPR020097|InterPro:IPR020103 2290271 GO_REF:0000002 InterPro GO_REF:0000002 pseudouridine synthase activity IEA InterPro:IPR001406|InterPro:IPR020094|InterPro:IPR020103 2290271 GO_REF:0000002 InterPro GO_REF:0000002 pseudouridine synthase activity IEA EC:5.4.99.12 2290271 GO_REF:0000003 UniProtKB GO_REF:0000003 pseudouridylate synthase activity NAS 2290271 PMID:10094309 UniProtKB PMID:10094309 RNA binding IEA InterPro:IPR001406|InterPro:IPR020094|InterPro:IPR020095|InterPro:IPR020097|InterPro:IPR020103 2290271 GO_REF:0000002 InterPro GO_REF:0000002 RNA binding IEA InterPro:IPR001406|InterPro:IPR020094|InterPro:IPR020097|InterPro:IPR020103 2290271 GO_REF:0000002 InterPro GO_REF:0000002 RNA binding IEA InterPro:IPR001406|InterPro:IPR020094|InterPro:IPR020103 2290271 GO_REF:0000002 InterPro GO_REF:0000002
1331644 AASTH7_H Allergic/atopic asthma related QTL 7 (human) 2.29 Reversible airflow obstruction asthma score 12 74133886 133812422 Human 1559248 SAPOA1_H Serum apolipoprotein A level QTL 1 (human) 2.02 Apolipoprotein level apolipoprotein A-I 12 95712415 133789251 Human 2316666 GLUCO252_H Glucose level QTL 252 (human) 3.65 Glucose level 12 107147609 133147609 Human 1643308 BW235_H Body weight QTL 235 (human) 1.86 Body weight body mass index 12 107188584 133188584 Human 1643411 BW278_H Body Weight QTL 278 (human) 1.79 .002 Body weight 12 107188584 133188584 Human 2293466 PRSTS305_H Prostate tumor susceptibility QTL 305 (human) .024 Prostate tumor susceptibility 12 107188584 133188584 Human 1643468 SLIPL18_H Serum lipid level QTL 18 (human) 2.6 .02 Lipid level 12 114961269 133812422 Human 2314558 GLUCO46_H Glucose level QTL 46 (human) 1.1 Glucose level 12 114961269 133812422 Human 1576338 MYI6_H Myocardial infarction susceptibility QTL 6 (human) 5.62 Myocardial infarction susceptibility early-onset 12 117397776 133812422 Human 1576332 MYI14_H Myocardial infarction susceptibility QTL 14 (human) 4.44 Myocardial infarction susceptibility early-onset 12 117397776 133812422 Human 2293368 PRSTS218_H Prostate tumor susceptibility QTL 218 (human) 1.05 Prostate tumor susceptibility 12 117397776 133812422 Human 2293401 PRSTS216_H Prostate tumor susceptibility QTL 216 (human) 1.76 Prostate tumor susceptibility 12 117397776 133812422 Human 2293420 PRSTS217_H Prostate tumor susceptibility QTL 217 (human) 1.89 Prostate tumor susceptibility 12 117397776 133812422 Human 1643461 BW105_H Body weight QTL 105 (human) 2.88 .0001 Body fat amount abdominal visceral 12 127961140 133812422 Human 1298435 OSTEAR6_H Osteoarthritis QTL 6 (human) Joint/bone inflammation hand osteoarthritis 12 130397738 133812422 Human 1643464 BW106_H Body weight QTL 106 (human) 1.51 .004 Body fat amount abdominal visceral 12 130397738 133812422 Human
Gene-Chemical Interaction Annotations
