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  2. IMPA1 - inositol monophosphatase 1 Gene

IMPA1 - inositol monophosphatase 1 Gene

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
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 identical protein binding IPI
IPI: 通过物理相互作用推断
16189514 GOA
enables inositol monophosphate 1-phosphatase activity IDA
IDA: 通过直接分析推断
17068342 GOA
enables inositol monophosphate 1-phosphatase activity IMP
IMP: 通过突变表型推断
1377913 GOA
enables inositol monophosphate phosphatase activity IDA
IDA: 通过直接分析推断
9462881 GOA
enables lithium ion binding IDA
IDA: 通过直接分析推断
9462881 GOA
enables magnesium ion binding IDA
IDA: 通过直接分析推断
9462881 GOA
enables manganese ion binding IDA
IDA: 通过直接分析推断
9462881 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
25416956 GOA
enables protein homodimerization activity IDA
IDA: 通过直接分析推断
17068342 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in phosphate-containing compound metabolic process IMP
IMP: 通过突变表型推断
1377913 GOA
involved in phosphatidylinositol biosynthetic process IMP
IMP: 通过突变表型推断
1377913 GOA
involved in signal transduction IMP
IMP: 通过突变表型推断
1377913 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
1377913 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

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

IMPA1 蛋白互作信息

分类
蛋白名称 蛋白编号 互作蛋白 互作蛋白种属 互作蛋白编号 实验方法 参考文献
种属内
IMPA1 P29218 IMPA2 Homo sapiens O14732 35271311
种属内
IMPA1 P29218 IMPA2 Homo sapiens O14732 25416956
种属内
IMPA1 P29218 IMPA1 Homo sapiens P29218-1 31515488
种属内
IMPA1 P29218 IMPA1 Homo sapiens P29218 16189514
种属内
IMPA1 P29218 IMPA1 Homo sapiens P29218 19447967
种属内
IMPA1 P29218 SIRT1 Homo sapiens Q96EB6 33961781
种属内
IMPA1 P29218 IMPA1 Homo sapiens P29218 25416956
种属内
IMPA1 P29218 METTL18 Homo sapiens O95568 33961781
种属内
IMPA1 P29218 E6 Human papillomavirus 5 P06930 22810586
种属内
IMPA1 P29218 IMPA1 Homo sapiens P29218
Y2H
21516116
种属内
IMPA1 P29218 Impa1 Rattus norvegicus P97697 8068621
种属间: 跨种属相互作用 种属内: 同种属相互作用

重组 IMPA1 蛋白

目录号 产品名 蛋白编号 纯度
HY-P70335 IMPA1 Protein, Human (His) P29218-1 (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

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