MTMR6 - myotubularin related protein 6 Gene

中文名称：肌微管蛋白相关蛋白 6

种属: Homo sapiens

基因 ID: 9107 | 基因类型: protein coding

关于 MTMR6

Cytogenetic location: 13q12.13 Genomic coordinates (GRCh38): 13:25,246,222-25,287,488 (from NCBI)

This gene has 2 transcripts (splice variants), 225 orthologues and 13 paralogues. Ubiquitous expression in testis (RPKM 13.0), adrenal (RPKM 12.0) and 25 other tissues.

功能概要

启用磷脂酰肌醇 3,5-二磷酸磷酸酶活性和磷脂酰肌醇 3-磷酸酶活性。参与磷脂酰肌醇去磷酸化。位于细胞质和核膜中。 [由基因组资源联盟提供，2022 年 4 月]

Enables phosphatidylinositol-3,5-bisphosphate Phosphatase activity and phosphatidylinositol-3-phosphatase activity. Involved in phosphatidylinositol dephosphorylation. Located in cytoplasm and nuclear envelope. [provided by Alliance of Genome Resources, Apr 2022]

MTMR6 基因产物(10)

mRNA	Protein	Name
NM_001385230.1	NP_001372159.1	myotubularin-related protein 6 isoform 2
NM_001385231.1	NP_001372160.1	myotubularin-related protein 6 isoform 3
NM_001385232.1	NP_001372161.1	myotubularin-related protein 6 isoform 4
NM_001385233.1	NP_001372162.1	myotubularin-related protein 6 isoform 5
NM_001385234.1	NP_001372163.1	myotubularin-related protein 6 isoform 6
NM_001385235.1	NP_001372164.1	myotubularin-related protein 6 isoform 7
NM_001385236.1	NP_001372165.1	myotubularin-related protein 6 isoform 8
NM_001385237.1	NP_001372166.1	myotubularin-related protein 6 isoform 9
NM_001385238.1	NP_001372167.1	myotubularin-related protein 6 isoform 10
NM_004685.5	NP_004676.3	myotubularin-related protein 6 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 phosphatidylinositol-3,5-bisphosphate phosphatase activity	IDA IDA: 通过直接分析推断	22647598	GOA
enables phosphatidylinositol-3-phosphate phosphatase activity	IDA IDA: 通过直接分析推断	22647598	GOA
enables protein binding	IPI IPI: 通过物理相互作用推断	16787938	GOA

生物过程 GO 注释	逻辑证据	参考文献	来源
involved in phosphatidylinositol dephosphorylation	IDA IDA: 通过直接分析推断	22647598	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
located in nuclear envelope	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

MTMR6 蛋白结构

Myotub-related

0
100
200
300
400
500
621 a.a.

蛋白主名

其他名称

myotubularin-related protein 6

phosphatidylinositol-3,5-bisphosphate 3-phosphatase

MTMR6 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
Intra	MTMR6	Q9Y217	NMI	Homo sapiens	Q13287	Y2H Array	25416956
Intra	MTMR6	Q9Y217	NMI	Homo sapiens	Q13287	Y2H Prey Pooling	25416956
Intra	MTMR6	Q9Y217	MTUS2	Homo sapiens	Q5JR59	Y2H Array	25416956
Intra	MTMR6	Q9Y217	MTMR9	Homo sapiens	Q96QG7	Y2H Array	25416956
Intra	MTMR6	Q9Y217	MTMR9	Homo sapiens	Q96QG7	Y2H	21516116
Intra	MTMR6	Q9Y217	MTMR9	Homo sapiens	Q96QG7	Anti Tag CoIP	27880917
Intra	MTMR6	Q9Y217	MTMR9	Homo sapiens	Q96QG7	Y2H Prey Pooling	25416956
Intra	MTMR6	Q9Y217	MTMR9	Homo sapiens	Q96QG7	Validated Y2H	25416956
Intra	MTMR6	Q9Y217	MTMR9	Homo sapiens	Q96QG7	BioID	27880917

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, X-Linked

X-Linked Myotubular Myopathy	Xlmtm
X-Linked Centronuclear Myopathy	Xlcnm
CNMX	Mtm1
Myotubular Myopathy, X-Linked	Mtmx
Myotubular Myopathy 1	Centronuclear Myopathy X-Linked
Myotubular Myopathy	Mtm
Cnm	Xmtm
Myotubular Myopathy Type 1

Hemolytic Disease Of Fetus And Newborn, Rh-Induced

Rh Deficiency Syndrome	Rh Disease
HDFNRH	Rh Fetomaternal Incompatibility
Rh-Null Syndrome

Charcot-Marie-Tooth Disease, Type 4b1

Charcot-Marie-Tooth Disease Type 4b1	CMT4B1
Cmt4b	Charcot-Marie-Tooth Neuropathy Type 4b1
Charcot-Marie-Tooth Disease Type 4b	Charcot-Marie-Tooth Disease, Autosomal Recessive, With Focally Folded Myelin Sheaths, Autosomal Recessive, Type 4b1
Charcot-Marie-Tooth Neuropathy, Type 4b1	Charcot-Marie-Tooth Disease, Type 4b
Autosomal Recessive Charcot-Marie-Tooth Disease With Focally Folded Myelin Sheaths Type 4b1	Charcot-Marie-Tooth Disease 4b1
Charcot-Marie-Tooth Disease Autosomal Recessive With Focally Folded Myelin Sheaths 4b1	Charcot-Marie-Tooth Disease Demyelinating Autosomal Recessive 4b1

Centronuclear Myopathy

Myopathy, Centronuclear	Myotubular Myopathy
Cnm	Myopathy, Myotubular
Congenital Structural Myopathy

Charcot-Marie-Tooth Disease

Cmt	Hmsn
Hereditary Motor And Sensory Neuropathy	Pma
Cmt - Charcot-Marie-Tooth Disease	Charcot Marie Tooth Disease
Charcot-Marie-Tooth Hereditary Neuropathy	Charcot-Marie-Tooth Syndrome
Peroneal Muscular Atrophy	Hereditary Motor And Sensory Neuropathies

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-RS08792	MTMR6 Human Pre-designed siRNA Set A	Pre-designed Sets	/	否

直系同源

种属	基因名	来源	基因 ID
Bos taurus	MTMR6	VGNC	VGNC:31744
Canis familiaris	MTMR6	VGNC	VGNC:43486
Macaca mulatta	MTMR6	VGNC	VGNC:75075
Felis catus	MTMR6	VGNC	VGNC:68349
Rattus norvegicus	MTMR6	RGD	RGD:1305378
Mus musculus	MTMR6	MGD	MGI:2145637

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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）

MTMR6 - myotubularin related protein 6 Gene

关于 MTMR6

功能概要

MTMR6 基因产物(10)

MTMR6 蛋白结构

MTMR6 蛋白互作信息

关联疾病

直系同源

热门区域

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MTMR6 - myotubularin related protein 6 Gene

关于 MTMR6

功能概要

MTMR6 基因产物(10)

MTMR6 蛋白结构

MTMR6 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