PUS1 - pseudouridine synthase 1 Gene

中文名称：假尿苷合酶 1

种属: Homo sapiens

同用名: MLASA1

基因 ID: 80324 | 基因类型: protein coding

关于 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.

功能概要

该基因编码一种假尿苷合酶，一旦它被整合到 RNA 分子中，就会将尿苷转化为假尿苷。编码的酶可能在 tRNA 功能和稳定许多 RNA 的二级和三级结构中发挥重要作用。该基因的突变与线粒体肌病和铁粒幼细胞性贫血有关。交替剪接导致多个转录变体。[RefSeq 提供，2009 年 9 月]

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 基因产物(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

基因本体论

分子功能
生物过程
细胞组分

分子功能 GO 注释	逻辑证据	参考文献	来源
enables pseudouridine synthase activity	EXP EXP: 通过实验结果推断	15772074	GOA
enables pseudouridine synthase activity	IDA IDA: 通过直接分析推断	31477916	GOA
enables pseudouridine synthase activity	IMP IMP: 通过突变表型推断	15772074	GOA
enables steroid receptor RNA activator RNA binding	IDA IDA: 通过直接分析推断	24722331	GOA
enables tRNA binding	IDA IDA: 通过直接分析推断	23707380	GOA

生物过程 GO 注释	逻辑证据	参考文献	来源
involved in mRNA pseudouridine synthesis	IDA IDA: 通过直接分析推断	31477916	GOA
involved in tRNA pseudouridine synthesis	IMP IMP: 通过突变表型推断	15772074	GOA

细胞组分 GO 注释	逻辑证据	参考文献	来源
located in cytoplasm	IDA IDA: 通过直接分析推断	15772074	GOA
located in mitochondrion	IDA IDA: 通过直接分析推断	15772074	GOA
located in nucleus	IDA IDA: 通过直接分析推断	15772074	GOA

EXP：通过实验结果推断 IDA：通过直接分析推断 IPI：通过物理相互作用推断 IMP：通过突变表型推断 IGI：通过遗传相互作用推断 IEP：通过表达模式推断

PUS1 蛋白结构

PseudoU_synth_1

0
100
200
300
400
427 a.a.

蛋白主名

其他名称

pseudouridylate synthase 1 homolog

tRNA pseudouridine synthase A

mitochondrial tRNA pseudouridine synthase A

PUS1 抗体

目录号	产品名	应用	反应物种
HY-P82038	PUS1 Antibody (YA1783)	WB, ICC/IF, IP	Human, Hamster, Rat

关联疾病

疾病名称

别名

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

疾病名称	别名
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

Cat. No.	产品名	作用方式	纯度	是否罕见病
HY-RS11467	PUS1 Human Pre-designed siRNA Set A	Pre-designed Set	/	否
HY-RS20804	Pus1 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	否
HY-RS27318	Pus1 Rat Pre-designed siRNA Set A	Pre-designed Set	/	否

直系同源

种属	基因名	来源	基因 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

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