PUS1 - pseudouridine synthase 1 Gene

Also Known as MLASA1

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 80324

About PUS1

Cytogenetic location: 12q24.33 Genomic coordinates (GRCh38): 12:131,929,276-131,945,896 (from NCBI)

This gene has 11 transcripts (splice variants), 206 orthologues, 2 paralogues and is associated with 3 phenotypes. Ubiquitous expression in appendix (RPKM 5.5), lymph node (RPKM 5.4) and 25 other tissues.

Summary

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]

PUS1 Products (3)

mRNA	Protein	Name
NM_001002019.3	NP_001002019.1	pseudouridylate synthase 1 homolog isoform 2
NM_001002020.3	NP_001002020.1	pseudouridylate synthase 1 homolog isoform 2
NM_025215.6	NP_079491.2	pseudouridylate synthase 1 homolog isoform 1

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables pseudouridine synthase activity	EXP EXP: Inferred from Experiment	15772074	GOA
enables pseudouridine synthase activity	IDA IDA: Inferred from direct assay	31477916	GOA
enables pseudouridine synthase activity	IMP IMP: Inferred from mutant phenotype	15772074	GOA
enables steroid receptor RNA activator RNA binding	IDA IDA: Inferred from direct assay	24722331	GOA
enables tRNA binding	IDA IDA: Inferred from direct assay	23707380	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in mRNA pseudouridine synthesis	IDA IDA: Inferred from direct assay	31477916	GOA
involved in tRNA pseudouridine synthesis	IMP IMP: Inferred from mutant phenotype	15772074	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in cytoplasm	IDA IDA: Inferred from direct assay	15772074	GOA
located in mitochondrion	IDA IDA: Inferred from direct assay	15772074	GOA
located in nucleus	IDA IDA: Inferred from direct assay	15772074	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

PUS1 Protein Structure

PseudoU_synth_1

0
100
200
300
400
427 a.a.

Protein Preferred Names	Protein Names
pseudouridylate synthase 1 homolog tRNA pseudouridine synthase A	mitochondrial tRNA pseudouridine synthase A

Protein Preferred Names

Protein Names

pseudouridylate synthase 1 homolog

tRNA pseudouridine synthase A

mitochondrial tRNA pseudouridine synthase A

PUS1 Antibodies

Cat. No.	Product Name	Application	Reactivity
HY-P82038	PUS1 Antibody (YA1783)	WB, ICC/IF, IP	Human, Hamster, Rat
HY-P82038A	PUS1 Antibody (YA1783)(PBS only)	WB, ICC/IF, IP	Human, Hamster, Rat

Related Diseases

Diseases	Alias
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1	Mitochondrial Myopathy And Sideroblastic Anemia MLASA1 Mlasa Myopathy, Lactic Acidosis And Sideroblastic Anemia Myopathy With Lactic Acidosis And Sideroblastic Anemia Sideroblastic Anemia And Mitochondrial Myopathy Myopathy With Lactic Acidosis And Sideroblastic Anemia 1
Sideroblastic Anemia	Anemia Sideroblastic Anemia, Sideroblastic Anemia, Hypochromic With Iron Loading
Myopathy, Lactic Acidosis, And Sideroblastic Anemia
Mitochondrial Myopathy	Mitochondrial Myopathies Mitochondrial Cytopathy Myopathies In Mitochondrial Disorders
Lactic Acidosis	Acidosis, Lactic Acidosis Lactic
Myopathy	Muscular Diseases Myopathies
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 3	MLASA3
Pearson Marrow-Pancreas Syndrome	Pearson Syndrome Sideroblastic Anemia With Marrow Cell Vacuolization And Exocrine Pancreatic Dysfunction Pearson'S Marrow/Pancreas Syndrome Pearson'S Syndrome Pearson'S Marrow-Pancreas Syndrome
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay	SIFD Congenital Sideroblastic Anemia-B-Cell Immunodeficiency-Periodic Fever-Developmental Delay Syndrome Sifd Syndrome
Anemia, Sideroblastic, 1	Xlsa X-Linked Sideroblastic Anemia Hypochromic Anemia Anh1 Hereditary Iron-Loading Anemia Anemia, Sideroblastic, X-Linked Anemia, Hereditary Sideroblastic Erythroid 5-Aminolevulinate Synthase Deficiency Hereditary Sideroblastic Anemia SIDBA1 Anemia, Hypochromic Sideroblastic Anemia 1 Anemia Hypochromic X Chromosome-Linked Sideroblastic Anemia Sideroblastic Anaemia 1 X-Linked Sideroblastic Anaemia Anemia Hereditary Sideroblastic Anemia Sex-Linked Hypochromic Sideroblastic Congenital Sideroblastic Anemia Sideroblastic Anemia X-Linked Anemia, Sex-Linked Hypochromic Sideroblastic Congenital Sideroblastic Anaemia X-Linked Pyridoxine-Responsive Sideroblastic Anemia Anemia Congenital Sideroblastic Anemia, Sideroblastic, Type 1 Sex-Linked Hypochromic Sideroblastic Anaemia Autosomal Recessive Sideroblastic Anaemia Familial Sex Linked Hypochromic Anaemia
Cardiomyopathy, Infantile Hypertrophic	Infantile Hypertrophic Cardiomyopathy CMHI
Kearns-Sayre Syndrome	Ophthalmoplegia Mitochondrial Cytopathy KSS Ophthalmoplegia, Pigmentary Degeneration Of Retina, And Cardiomyopathy Oculocraniosomatic Syndrome Chronic Progressive External Ophthalmoplegia With Myopathy Cpeo With Myopathy Total Ophthalmoplegia Ophthalmoplegia-Plus Syndrome Ophthalmoplegia, Progressive External, With Ragged-Red Fibers Cpeo With Ragged-Red Fibers Oculomotor Paralysis Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia Due To Duplication O Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia Due To Duplication Of Mitochondrial Dna Proximal Tubulopathy, Diabetes Mellitus And Cerebellar Ataxia Cpeo With Ragged Red Fibers Ophthalmoplegia Plus Syndrome Ophthalmoplegia, Progressive External, With Ragged Red Fibers Kearns-Sayre Mitochondrial Cytopathy Mitochondrial Myopathies
Dyskeratosis Congenita	Dyskeratosis Congenita Autosomal Dominant Dc Dkc Zinsser-Engman-Cole Syndrome Dyskeratosis Congenita, Autosomal Dominant Autosomal Dominant Dyskeratosis Congenita Dkca Dyskeratosis Congenita Scoggins Type Zinsser-Cole-Engman Syndrome X-Linked Dyskeratosis Congenita Hoyeraal-Hreidarsson Syndrome
Aplastic Anemia	Aplastic Anemia, Susceptibility To Anemia Aplastic Idiopathic Aplastic Anemia Secondary Aplastic Anemia Idiopathic Bone Marrow Failure Aplastic Anemia Idiopathic AA Anemia, Aplastic Aplastic Anemia, Idiopathic Erythroid Aplasia Aa - [Aplastic Anaemia] Haematopoietic Aplasia Aleukia Haemorrhagica Anaemia Due To Decreased Red Cell Production Aplasia Bone Marrow Aplastic Bone Marrow Hypoplastic Anaemia Nos Myeloid Bone Marrow Aplasia Pancytopenia Panhaematopenia Hypoproliferative Anaemia Medullary Hypoplasia Red Blood Cells Hypoplastic Anaemia Panmyelophthisis Panhemocytopenia Refractive Hypoproliferative Anaemia Toxic Anaemia Toxic Aplastic Anaemia Aplastic Anaemia Due To Toxic Cause Idiopathic Aplastic Anaemia Nos
Leigh Syndrome	Leigh Disease Infantile Subacute Necrotizing Encephalopathy Leigh Syndrome Due To Mitochondrial Complex Iv Deficiency LS Sne Leigh'S Disease Leigh Syndrome Due To Mitochondrial Complex I Deficiency Necrotizing Encephalopathy, Infantile Subacute, Of Leigh Subacute Necrotizing Encephalomyelopathy Necrotizing Encephalopathy Infantile Subacute Of Leigh Leigh Syndrome Due To Mitochondrial Complex Iii Deficiency Infantile Necrotizing Encephalomyelopathy Juvenile Subacute Necrotizing Encephalomyelopathy Leigh'S Necrotizing Encephalopathy Subacute Necrotizing Encephalopathy Juvenile Subacute Necrotizing Encephalopathy Leigh Syndrome Due To Mitochondrial Complex Ii Deficiency Leigh Syndrome Due To Mitochondrial Complex V Deficiency Encephalopathy, Subacute Necrotizing, Infantile Encephalopathy, Subacute Necrotizing, Juvenile Maternally Inherited Leigh Syndrome Subacute Necrotising Encephalomyelopathy Subacute Necrotising Encephalopathy
Hypertrophic Cardiomyopathy	Hypertrophic Obstructive Cardiomyopathy Cardiomyopathy, Hypertrophic Cardiomyopathy Hypertrophic Obstructive Cardiomyopathy, Hypertrophic, Familial Idiopathic Myocardial Hypertrophy Idiopathic Hypertrophic Cardiomyopathy Obstructive Idiopathic Hypertrophic Cardiomyopathy Obstructive Cardiomyopathy Idiopathic Hypertrophic Subaortic Stenosis Muscular Subaortic Stenosis Hypertrophic Obstructive Subaortic Stenosis

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (4)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-N2456	Mogroside IV-E	Inhibitor	99.71%	Unkown
HY-RS11467	PUS1 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS20804	Pus1 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS27318	Pus1 Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Rattus norvegicus	PUS1	RGD	RGD:1311871
Macaca mulatta	PUS1	VGNC	VGNC:81514
Bos taurus	PUS1	VGNC	VGNC:33574
Canis familiaris	PUS1	VGNC	VGNC:45210
Felis catus	PUS1	VGNC	VGNC:80469
Mus musculus	PUS1	MGD	MGI:1929237
Others	PUS1	NCBI