2. Gene
  3. IMPA1 - inositol monophosphatase 1 Gene

IMPA1 - inositol monophosphatase 1 Gene

  • 基因
  • 蛋白
  • 疾病
  • 相关产品
  • 直系同源

中文名称：肌醇单磷酸酶 1

种属: Homo sapiens

同用名: IMP; IMPA; MRT59

基因 ID: 3612 | 基因类型: protein coding

关于 IMPA1

Cytogenetic location: 8q21.13 Genomic coordinates (GRCh38): 8:81,656,914-81,686,325 (from NCBI)

This gene has 13 transcripts (splice variants), 232 orthologues, 4 paralogues and is associated with 1 phenotype. Ubiquitous expression in testis (RPKM 15.5), thyroid (RPKM 10.4) and 24 other tissues.

功能概要

该基因编码一种酶，该酶可使肌醇单磷酸去磷酸化以产生游离肌醇 (磷脂酰肌醇的前体) ，因此是通过产生第二信使肌醇 1,4,5-三磷酸和甘油二酯进行细胞内信号转导的重要调节剂.该酶还可以使用肌醇 1,3-二磷酸、肌醇 1,4-二磷酸、鲨肌醇-磷酸、葡萄糖-1-磷酸、葡萄糖-6-磷酸、果糖-1-磷酸、β -甘油磷酸盐和 2'-AMP 作为底物。这种酶表现出镁依赖性磷酸酶活性，并被治疗浓度的锂抑制。抑制肌醇单磷酸水解和随后用于磷脂酰肌醇合成的肌醇耗尽可以解释锂治疗双相情感障碍的抗躁狂和抗抑郁作用。可变剪接导致编码不同异构体的多个转录变体。该基因的假基因也存在于染色体 8q21.13 上。[RefSeq 提供，2014 年 12 月]

This gene encodes an Enzyme that dephosphorylates myo-inositol monophosphate to generate free myo-inositol, a precursor of phosphatidylinositol, and is therefore an important modulator of intracellular signal transduction via the production of the second messengers myoinositol 1,4,5-trisphosphate and diacylglycerol. This Enzyme can also use myo-inositol-1,3-diphosphate, myo-inositol-1,4-diphosphate, scyllo-inositol-phosphate, glucose-1-phosphate, glucose-6-phosphate, fructose-1-phosphate, beta-glycerophosphate, and 2'-AMP as substrates. This Enzyme shows magnesium-dependent Phosphatase activity and is inhibited by therapeutic concentrations of lithium. Inhibition of inositol monophosphate hydroylosis and subsequent depletion of inositol for phosphatidylinositol synthesis may explain the anti-manic and anti-depressive effects of lithium administered to treat bipolar disorder. Alternative splicing results in multiple transcript variants encoding distinct isoforms. A pseudogene of this gene is also present on chromosome 8q21.13. [provided by RefSeq, Dec 2014]

IMPA1 基因产物(3)

mRNA Protein Name
NM_001144878.2 NP_001138350.1 inositol monophosphatase 1 isoform 2
NM_001144879.2 NP_001138351.1 inositol monophosphatase 1 isoform 3
NM_005536.4 NP_005527.1 inositol monophosphatase 1 isoform 1

IMPA1 蛋白结构

Inositol_P

Inositol_P: Inositol monophosphatase family (7 - 267)

  • 0
  • 100
  • 200
  • 277 a.a.
蛋白主名 其他名称

inositol monophosphatase 1

D-galactose 1-phosphate phosphatase

重组 IMPA1 蛋白

目录号 产品名 蛋白编号 纯度
HY-P70335 IMPA1 Protein, Human (His) P29218 (M1-D277) ≥95%

关联疾病

疾病名称 别名
Intellectual Developmental Disorder, Autosomal Recessive 59

MRT59

Mental Retardation, Autosomal Recessive 59

Autosomal Recessive Intellectual Developmental Disorder 59
Bipolar Disorder

Bipolar Depression

Manic Disorder

Depression, Bipolar

Bipolar Disorder Manic Phase

Depressive-Manic Psych.

Manic Bipolar Affective Disorder

Manic Bipolar I Disorder

Manic Depression

Manic Depressive Disorder

Mixed Bipolar Disorder

Bipolar Affective Disorder

Bipolar Affective Psychosis

Bipolar Spectrum Disorder

Manic Depressive Illness

Depression Bipolar

Bipolar Disorder, Mixed

Major Affective Disorder

Major Affective Disorder 1

Major Affective Disorder 2
Mood Disorder

Mood Disorders

Episodic Mood Disorder
Spastic Paraplegia, Optic Atrophy, And Neuropathy

Spoan Syndrome

SPOAN

Spastic Paraplegia, Optic Atropy, And Neuropathy

Spastic Paraplegia, Optic Atropy, And Neuropathy Syndrome

Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Developmental And Epileptic Encephalopathy 11

Epileptic Encephalopathy, Early Infantile, 11

DEE11

Eiee11

Developmental And Epileptic Encephalopathy, 11

Early Infantile Epileptic Encephalopathy 11

Encephalopathy, Developmental And Epileptic, Type 11
Cardiomyopathy, Familial Hypertrophic, 1

Asymmetric Septal Hypertrophy

Familial Hypertrophic Cardiomyopathy

Hypertrophic Cardiomyopathy 1

CMH1

Hypertrophic Cardiomyopathy 19

CMH

Ventricular Hypertrophy, Hereditary

Ash

Hypertrophic Subaortic Stenosis, Idiopathic

Cardiomyopathy, Familial Hypertrophic

Cardiomyopathy, Hypertrophic, 1, Digenic

Cardiomyopathy, Familial Hypertrophic 1

Hcm

Hereditary Ventricular Hypertrophy

Idiopathic Hypertrophic Subaortic Stenosis

Hypertrophic Cardiomyopathy

Cardiomyopathy, Hypertrophic, Familial

Cardiomyopathy, Hypertrophic, 1

Familial Asymmetric Septal Hypertrophy

Heritable Hypertrophic Cardiomyopathy

Fhc

Cardiomyopathy, Hypertrophic, Familial, Type 1
Schizophrenia

SCZD

Schizophrenia With Or Without An Affective Disorder

Schizophrenia 12

Schizophrenia, Susceptibility To

Schizophrenia-1

Dementia Praecox

Schizophrenia 1
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

相关产品

Pre-clinical Phase
生物活性分子 (7)
Cat. No. 产品名 作用方式
纯度 是否罕见病
HY-125053A Batifiban TFA Antagonist 99.58% 否
HY-P1390 d[Cha4]-AVP Agonist 99.27% 否
HY-P10046 [Deamino-Pen1,Val4,D-Arg8]-vasopressin Inhibitor / 否
HY-P4397 (d(CH2)51,Tyr(Me)2,Thr4,Orn8,des-Gly-NH29)-Vasotocin / 否
HY-P5006 (d(CH2)51,Tyr(Me)2,Dab5,Arg8)-Vasopressin Antagonist / 否
HY-RS06795 IMPA1 Human Pre-designed siRNA Set A / 否
HY-125053 Batifiban / 否

直系同源

种属 基因名 来源 基因 ID
Canis familiaris IMPA1 VGNC VGNC:42007
Bos taurus IMPA1 VGNC VGNC:30184
Mus musculus IMPA1 MGD MGI:1933158
Macaca mulatta IMPA1 VGNC VGNC:84008
Rattus norvegicus IMPA1 RGD RGD:69254
Felis catus IMPA1 VGNC VGNC:67796
Others IMPA1 NCBI
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