MTMR7 - myotubularin related protein 7 Gene

中文名称：肌微管蛋白相关蛋白 7

种属: Homo sapiens

基因 ID: 9108 | 基因类型: protein coding

关于 MTMR7

Cytogenetic location: 8p22 Genomic coordinates (GRCh38): 8:17,296,794-17,413,351 (from NCBI)

This gene has 9 transcripts (splice variants), 295 orthologues and 13 paralogues. Ubiquitous expression in brain (RPKM 4.2), thyroid (RPKM 1.7) and 24 other tissues.

功能概要

该基因编码酪氨酸/双特异性磷酸酶的肌微管蛋白家族的成员。编码的蛋白质的特点是四个不同的结构域，在肌微管蛋白家族的所有成员中都是保守的：葡萄糖基转移酶、Rab 样 GTP 酶激活剂和肌微管蛋白结构域、Rac 诱导的募集结构域、蛋白酪氨酸磷酸酶和双特异性磷酸酶结构域和杂色 3-9 的抑制因子、热情增强因子和三胸相互作用域。这种蛋白质使目标底物磷脂酰肌醇 3-磷酸和肌醇 1,3-二磷酸去磷酸化。在 5 号染色体上发现了该基因的假基因。[RefSeq 提供，2009 年 3 月]

This gene encodes a member of the myotubularin family of tyrosine/dual-specificity phosphatases. The encoded protein is characterized by four distinct domains that are conserved among all members of the myotubularin family: the glucosyltransferase, Rab-like GTPase activator and myotubularins domain, the Rac-induced recruitment domain, the Protein tyrosine phosphatases and dual-specificity phosphatases domain and the suppressor of variegation 3-9, enhancer-of-zeste, and trithorax interaction domain. This protein dephosphorylates the target substrates phosphatidylinositol 3-phosphate and inositol 1,3-bisphosphate. A pseudogene of this gene is found on chromosome 5. [provided by RefSeq, Mar 2009]

MTMR7 基因产物(1)

mRNA	Protein	Name
NM_004686.5	NP_004677.3	myotubularin-related protein 7

基因本体论

分子功能
细胞组分

分子功能 GO 注释	逻辑证据	参考文献	来源
enables protein binding	IPI IPI: 通过物理相互作用推断	25416956	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	16787938	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

MTMR7 蛋白结构

Myotub-related

0
200
400
600
660 a.a.

蛋白主名

其他名称

myotubularin-related protein 7

inositol 1,3-bisphosphate phosphatase

MTMR7 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	MTMR7	Q9Y216	CCNH	Homo sapiens	P51946	Y2H Array	32296183
种属内	MTMR7	Q9Y216	CCNH	Homo sapiens	P51946	Anti Tag CoIP	27880917
种属内	MTMR7	Q9Y216	CCNH	Homo sapiens	P51946	Y2H Prey Pooling	32296183
种属内	MTMR7	Q9Y216	MTMR9	Homo sapiens	Q96QG7	Validated Y2H	25416956
种属内	MTMR7	Q9Y216	MTMR9	Homo sapiens	Q96QG7	Anti Tag CoIP	33961781
种属内	MTMR7	Q9Y216	MTMR9	Homo sapiens	Q96QG7	Y2H Array	29892012
种属内	MTMR7	Q9Y216	MTMR9	Homo sapiens	Q96QG7	Y2H Array	31515488
种属内	MTMR7	Q9Y216	MTMR9	Homo sapiens	Q96QG7	Y2H Prey Pooling	25416956
种属内	MTMR7	Q9Y216	MTMR9	Homo sapiens	Q96QG7	Y2H Prey Pooling	32296183
种属内	MTMR7	Q9Y216	MTMR9	Homo sapiens	Q96QG7	Anti Tag CoIP	27880917
种属内	MTMR7	Q9Y216	MTMR9	Homo sapiens	Q96QG7	Y2H Array	25416956
种属内	MTMR7	Q9Y216	MTMR9	Homo sapiens	Q96QG7	Y2H Array	32296183

种属间: 跨种属相互作用 种属内: 同种属相互作用

关联疾病

疾病名称

别名

Myopathy, Centronuclear, 6, With Fiber-Type Disproportion

CNM6	Centronuclear Myopathy 6 With Fiber-Type Disproportion
Myopathy, Centronuclear, Type 6, With Fiber-Type Disproportion

Macrocephaly/Autism Syndrome

Macrocephaly-Autism Syndrome	Macrocephaly-Intellectual Disability-Autism Syndrome
MCEPHAS

Developmental And Epileptic Encephalopathy 53

DEE53	Epileptic Encephalopathy, Early Infantile, 53
Eiee53	Developmental And Epileptic Encephalopathy, 53
Early Infantile Epileptic Encephalopathy 53

Creutzfeldt-Jakob Disease

Variant Creutzfeldt-Jakob Disease	CJD
Bovine Spongiform Encephalopathy	Vcjd
Inherited Creutzfeldt-Jakob Disease	Creutzfeldt-Jakob Disease, Familial
Creutzfeldt Jakob Disease	Creutzfeldt-Jacob Disease
Creutzfeldt Jacob Disease	Sporadic Creutzfeldt-Jakob Disease
Encephalopathy, Bovine Spongiform	Creutzfeldt-Jakob Disease, Variant, Resistance To
Creutzfeldt-Jakob Disease, Variant	Creutzfeldt Jacob Syndrome
Jakob-Creutzfeldt Disease	Subacute Spongiform Encephalopathy
Transmissible Virus Dementia	New Variant Of Cjd
Nv-Cjd	Variant Cjd
Variant Creutzfeldt-Jacob Disease	Sporadic Cjd
Inherited Cjd	Acquired Creutzfeldt-Jakob Disease
Variant Mcj	Encephalopathy Bovine Spongiform
Familial Creutzfeldt-Jakob Disease	Creutzfeldt-Jakob Syndrome
New Variant Creutzfeldt-Jakob Disease	Creutzfeldt-Jakob Disease, Sporadic
Acquired Cjd	Scjd - [Sporadic Creutzfeldt-Jakob Disease]
Idiopathic Creutzfeldt-Jakob Disease	Creutzfeld-Jakob Disease Nos
Vcjd - [Variant Creutzfeldt-Jakob Disease]

Parkinson Disease 20, Early-Onset

Early-Onset Parkinson Disease 20	PARK20
Parkinson'S Disease 20	Early-Onset Parkinson'S Disease 20
Parkinson Disease, Type 20, Early-Onset

Charcot-Marie-Tooth Disease, Type 4b2

Charcot-Marie-Tooth Disease Type 4b2	CMT4B2
Charcot-Marie-Tooth Disease, With Focally Folded Myelin Sheaths, Autosomal Recessive, Type 4b2	Charcot-Marie-Tooth Neuropathy, Type 4b2
Charcot-Marie-Tooth Neuropathy Type 4b2	Autosomal Recessive Charcot-Marie-Tooth Disease With Focally Folded Myelin Sheaths Type 4b2
Cmt 4b2	Charcot Marie Tooth Disease Type 4b2
Charcot-Marie-Tooth Disease 4b2	Charcot-Marie-Tooth Disease Autosomal Recessive With Focally Folded Myelin Sheaths 4b2
Charcot-Marie-Tooth Disease Demyelinating Autosomal Recessive 4b2

Joubert Syndrome 1

Joubert Syndrome	Jbts
Cerebellooculorenal Syndrome 1	JBTS1
Joubert-Boltshauser Syndrome	Cerebelloparenchymal Disorder Iv
Cpd4	Cors1
Joubert Syndrome And Related Disorders	Jsrd
Familial Aplasia Of The Vermis	Joubert Syndrome Related Disorders
Js	Cerebellar Vermis Agenesis
Cerebelloparenchymal Disorder 4	Agenesis Of Cerebellar Vermis
Cerebello-Oculo-Renal Syndrome	Cors
Joubert-Bolthauser Syndrome	Cpd Iv
Classic Joubert Syndrome	Joubert Syndrome Type A
Pure Joubert Syndrome	Cerebello-Oculo-Renal Syndrome 1
Joubert Syndrome-1	Joubert Syndrome, Type 1
Joubert'S Syndrome

Generalized Epilepsy With Febrile Seizures Plus

Gefs+	Genetic Epilepsy With Febrile Seizures Plus
Generalized Epilepsy With Febrile Seizures-Plus	Genetic Epilepsy With Febrile Seizures-Plus
Epilepsy, Generalized, With Febrile Seizures Plus

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-RS08793	MTMR7 Human Pre-designed siRNA Set A	Pre-designed Sets	/	否

直系同源

种属	基因名	来源	基因 ID
Mus musculus	MTMR7	MGD	MGI:1891693
Macaca mulatta	MTMR7	VGNC	VGNC:75076
Felis catus	MTMR7	VGNC	VGNC:68350
Rattus norvegicus	MTMR7	RGD	RGD:1306608
Bos taurus	MTMR7	VGNC	VGNC:31745
Canis familiaris	MTMR7	VGNC	VGNC:43487

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MedChemExpress (MCE) 只为有资质的科研机构、医药企业基于科学研究或药证申报的用途提供医药研发服务，不为任何个人或者非科研性质的、非用于药证申报使用等其他用途提供服务。

站点地图隐私声明

沪ICP备15051369号-4

上海工商

沪公网安备31011502019417

沪(浦)应急管危经许[2021]201709(QFYS)

营业执照（三证合一）

MTMR7 - myotubularin related protein 7 Gene

关于 MTMR7

功能概要

MTMR7 基因产物(1)

MTMR7 蛋白结构

MTMR7 蛋白互作信息

关联疾病

直系同源

热门区域

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MTMR7 - myotubularin related protein 7 Gene

关于 MTMR7

功能概要

MTMR7 基因产物(1)

MTMR7 蛋白结构

MTMR7 蛋白互作信息

关联疾病

相关产品

直系同源

热门区域

A

B

C

F

G

H

J

L

N

Q

S

T

X

Y

Z