Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	80324
Gene name Gene Name - the full gene name approved by the HGNC.	Pseudouridine synthase 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	PUS1
Synonyms (NCBI Gene) Gene synonyms aliases	MLASA1
Disease Acronyms (UniProt) Disease acronyms from UniProt database	MLASA1
Chromosome Chromosome number	12
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	12q24.33
Summary Summary of gene provided in NCBI Entrez Gene.	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

Show/Hide all(10)

SNP ID	Visualize variation	Clinical significance	Consequence
rs104894371	C>T	Pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs104894372	G>T	Pathogenic	Non coding transcript variant, coding sequence variant, stop gained, genic downstream transcript variant
rs149378338	C>A,T	Conflicting-interpretations-of-pathogenicity	Non coding transcript variant, genic downstream transcript variant, missense variant, coding sequence variant
rs372753711	G>A	Likely-pathogenic	Missense variant, genic downstream transcript variant, non coding transcript variant, coding sequence variant
rs779193823	C>G,T	Pathogenic	Synonymous variant, non coding transcript variant, stop gained, genic downstream transcript variant, coding sequence variant
rs779651314	C>A	Likely-pathogenic	Stop gained, genic downstream transcript variant, non coding transcript variant, coding sequence variant
rs863224176	A>C	Likely-pathogenic	Genic downstream transcript variant, missense variant, non coding transcript variant, coding sequence variant
rs869025309	C>T	Pathogenic	Non coding transcript variant, coding sequence variant, genic downstream transcript variant, missense variant
rs1555268564	->G	Likely-pathogenic	Frameshift variant, genic downstream transcript variant, non coding transcript variant, coding sequence variant
rs1566148136	C>-	Likely-pathogenic	Genic downstream transcript variant, frameshift variant, coding sequence variant, non coding transcript variant

Show/Hide all(31)

miRTarBase ID	miRNA	Experiments	Reference
MIRT022192	hsa-miR-124-3p	Microarray	18668037
MIRT027453	hsa-miR-98-5p	Microarray	19088304
MIRT032213	hsa-let-7b-5p	Proteomics	18668040
MIRT041439	hsa-miR-193b-3p	CLASH	23622248
MIRT1277969	hsa-miR-1184	CLIP-seq
MIRT1277970	hsa-miR-1200	CLIP-seq
MIRT1277971	hsa-miR-3160-3p	CLIP-seq
MIRT1277972	hsa-miR-335	CLIP-seq
MIRT1277973	hsa-miR-3622b-5p	CLIP-seq
MIRT1277974	hsa-miR-4304	CLIP-seq
MIRT1277975	hsa-miR-4324	CLIP-seq
MIRT1277976	hsa-miR-4663	CLIP-seq
MIRT1277977	hsa-miR-4666-5p	CLIP-seq
MIRT1277978	hsa-miR-4668-5p	CLIP-seq
MIRT1277979	hsa-miR-4696	CLIP-seq
MIRT1277980	hsa-miR-4728-3p	CLIP-seq
MIRT1277981	hsa-miR-4743	CLIP-seq
MIRT1277982	hsa-miR-4747-5p	CLIP-seq
MIRT1277983	hsa-miR-493	CLIP-seq
MIRT1277984	hsa-miR-544b	CLIP-seq
MIRT1277985	hsa-miR-570	CLIP-seq
MIRT1277986	hsa-miR-604	CLIP-seq
MIRT1277987	hsa-miR-647	CLIP-seq
MIRT1277988	hsa-miR-34b	CLIP-seq
MIRT1277976	hsa-miR-4663	CLIP-seq
MIRT1277977	hsa-miR-4666-5p	CLIP-seq
MIRT1277980	hsa-miR-4728-3p	CLIP-seq
MIRT1277971	hsa-miR-3160-3p	CLIP-seq
MIRT1277982	hsa-miR-4747-5p	CLIP-seq
MIRT1277983	hsa-miR-493	CLIP-seq
MIRT1277985	hsa-miR-570	CLIP-seq

Show/Hide all(14)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000049	Function	TRNA binding	IDA	23707380
GO:0002153	Function	Steroid receptor RNA activator RNA binding	IDA	24722331
GO:0003723	Function	RNA binding	HDA	22658674, 22681889
GO:0005634	Component	Nucleus	IBA	21873635
GO:0005654	Component	Nucleoplasm	IDA
GO:0005739	Component	Mitochondrion	IDA
GO:0005759	Component	Mitochondrial matrix	TAS
GO:0009982	Function	Pseudouridine synthase activity	EXP	15772074, 22102571
GO:0009982	Function	Pseudouridine synthase activity	IBA	21873635
GO:0009982	Function	Pseudouridine synthase activity	IMP	24722331
GO:0031119	Process	TRNA pseudouridine synthesis	IBA	21873635
GO:0070902	Process	Mitochondrial tRNA pseudouridine synthesis	TAS
GO:0106029	Function	TRNA pseudouridine synthase activity	IEA
GO:1990481	Process	MRNA pseudouridine synthesis	IBA	21873635

MIM	HGNC	e!Ensembl
608109	15508	ENSG00000177192

Protein

UniProt ID

Q9Y606

Protein name

Pseudouridylate synthase 1 homolog (EC 5.4.99.-) (tRNA pseudouridine synthase 1) (EC 5.4.99.12) (tRNA pseudouridine(38-40) synthase) (tRNA pseudouridylate synthase I) (tRNA-uridine isomerase I)

Protein 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:247

PDB

4IQM , 4ITS , 4J37 , 4NZ6 , 4NZ7

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF01416	PseudoU_synth_1	235 → 341	tRNA pseudouridine synthase	Domain

Tissue specificity

TISSUE SPECIFICITY: Widely expressed (PubMed:15108122). High levels of expression found in brain and skeletal muscle (PubMed:15108122). {ECO:0000269|PubMed:15108122}.

Sequence

MGLQLRALLGAFGRWTLRLGPRPSCSPRMAGNAEPPPAGAACPQDRRSCSGRAGGDRVWE
DGEHPAKKLKSGGDEERREKPPKRKIVLLMAYSGKGYHGMQRNVGSSQFKTIEDDLVSAL
VRSGCIPENHGEDMRKMSFQRCARTDKGVSAAGQVVSLKVWLIDDILEKINSHLPSHIRI
LGLKRVTGGFNSKNRCDARTYCYLLPTFAFAHKDRDVQDETYRLSAETLQQVNRLLACYK
GTHNFHNFTSQKGPQDPSACRYILEMYCEEPFVREGLEFAVIRVKGQSFMMHQIRKMVGL
VVAIVKGYAPESVLERSWGTEKVDVPKAPGLGLVLERVHFEKYNQRFGNDGLHEPLDWAQ
EEGKVAAFKEEHIYPTIIGTERDERSMAQWLSTLPIHNFSATALTAGGTGAKVPSPLEGS
EGDGDTD

Sequence length

427

Interactions

View interactions

	Reactome
			tRNA modification in the mitochondrion

Show/Hide Causal Diseases (11)

Disease term	Disease name	dbSNP ID	References
Causal
Anemia	Anemia, Iron-Refractory Iron Deficiency Anemia	rs118204044, rs118204045, rs118204046, rs121918330, rs869320719, rs869312029, rs121918332, rs869320724, rs767094129, rs786205058, rs786205059, rs137853119, rs137853120, rs137853121, rs1384933966 View all (89 more)
Breast cancer	Malignant neoplasm of breast	rs587776547, rs1137887, rs137853007, rs587776650, rs80359351, rs80359714, rs121917783, rs104886456, rs121964878, rs80359874, rs80357868, rs80357508, rs387906843, rs80357569, rs80358158 View all (309 more)
Gastric cancer	Hereditary Diffuse Gastric Cancer	rs137854571, rs63751108, rs34612342, rs121908383, rs121909144, rs121909775, rs121909219, rs121909223, rs63750871, rs80359530, rs121964873, rs121913530, rs606231203, rs121918505, rs587776802 View all (244 more)	21364753
Glaucoma	Glaucoma	rs121918355, rs1566660365, rs1566635134, rs121918356, rs1566634475, rs28936700, rs55771538, rs28936701, rs104893622, rs55989760, rs72549387, rs104893628, rs2125316417, rs104893629, rs74315328 View all (29 more)
Mental retardation	Intellectual Disability	rs5742905, rs267607136, rs267607137, rs2131714307, rs267607038, rs267607042, rs80338685, rs137853127, rs80338815, rs28940893, rs387906309, rs121908096, rs121908099, rs587784365, rs121918315 View all (1024 more)	21686963
Microcephaly	Microcephaly	rs397704721, rs267607176, rs267607177, rs397704725, rs267606717, rs267606718, rs199422202, rs121434311, rs199422203, rs199422126, rs387906274, rs121434305, rs199422125, rs199422135, rs189678019 View all (280 more)
Mitochondrial myopathy	Mitochondrial Myopathies	rs121434454
Myopathy	Myopathy	rs137854521, rs386834236, rs121908557, rs121909092, rs111033570, rs104894299, rs104894294, rs121909273, rs121909274, rs121909275, rs199474699, rs199476140, rs118192165, rs118192169, rs118192166 View all (81 more)
Myopathy, lactic acidosis, and sideroblastic anemia	MYOPATHY, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA 1	rs267607180, rs104894371, rs104894372, rs587777213, rs11539445, rs587777214, rs587777215, rs372098364, rs797045077, rs745595833, rs869025309, rs779651314, rs1555268564, rs1566148136, rs762813092, rs779193823 View all (1 more)	15108122, 25227147, 27604308, 26556812, 16959974, 21686963, 19731322
Scoliosis	Scoliosis, unspecified	rs1057518828, rs147296805, rs758163506, rs1555613564, rs1596852902, rs1596853067, rs1596853085
Sideroblastic anemia	Sideroblastic anemia	rs763817505

Show/Hide Unknown Diseases (2)

Disease term	Disease name	Source
Unknown
Sideroblastic Anemia	myopathy, lactic acidosis, and sideroblastic anemia	GenCC
Mitochondrial Diseases	mitochondrial disease	GenCC

Show/Hide Text Mining Associations (3)

Disease Name	Relationship Type	References
Associations from Text Mining
Mitochondrial Diseases	Associate	15772074, 25227147
Myopathy with lactic acidosis and sideroblastic anemia	Associate	15108122, 15772074, 20598274, 25037980
Osteoarthritis	Associate	37006267

PUS1 (pseudouridine synthase 1)