MARCHF6 - membrane associated ring-CH-type finger 6 Gene

中文名称：膜联环-CH 型手指 6

种属: Homo sapiens

同用名: TEB4; DOA10; FAME3; MARCH6; RNF176; MARCH-VI

基因 ID: 10299 | 基因类型: protein coding

关于 MARCHF6

Cytogenetic location: 5p15.2 Genomic coordinates (GRCh38): 5:10,353,695-10,440,388 (from NCBI)

This gene has 15 transcripts (splice variants), 261 orthologues and is associated with 2 phenotypes. Ubiquitous expression in brain (RPKM 18.9), bone marrow (RPKM 17.4) and 25 other tissues.

功能概要

该基因编码含有 RING-CH 型锌指基序的膜相关 E3 泛素连接酶家族的成员。编码蛋白对 II 型脱碘酶的泛素化是甲状腺激素信号传导中的重要调节步骤。已经观察到该基因编码多种亚型的可变剪接转录物变体。[RefSeq 提供，2012 年 7 月]

This gene encodes a member of a family of membrane-associated E3 ubiquitin ligases containing RING-CH-type zinc finger motifs. Ubiquitination of type II deiodinase by the encoded protein is an important regulatory step in thyroid hormone signalling. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jul 2012]

MARCHF6 基因产物(3)

mRNA	Protein	Name
NM_001270660.2	NP_001257589.1	E3 ubiquitin-protein ligase MARCHF6 isoform 2
NM_001270661.2	NP_001257590.1	E3 ubiquitin-protein ligase MARCHF6 isoform 3
NM_005885.4	NP_005876.2	E3 ubiquitin-protein ligase MARCHF6 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 enzyme binding	IPI IPI: 通过物理相互作用推断	19651899	GOA
enables protein binding	IPI IPI: 通过物理相互作用推断	25766235	GOA
enables ubiquitin conjugating enzyme binding	IPI IPI: 通过物理相互作用推断	15673284	GOA
enables ubiquitin protein ligase activity	IDA IDA: 通过直接分析推断	24449766	GOA
enables ubiquitin-protein transferase activity	IDA IDA: 通过直接分析推断	15673284	GOA
enables ubiquitin-protein transferase activity	IMP IMP: 通过突变表型推断	19651899	GOA
enables ubiquitin-specific protease binding	IPI IPI: 通过物理相互作用推断	25088257	GOA

生物过程 GO 注释	逻辑证据	参考文献	来源
involved in proteasomal protein catabolic process	IDA IDA: 通过直接分析推断	15673284	GOA
involved in proteasome-mediated ubiquitin-dependent protein catabolic process	IDA IDA: 通过直接分析推断	24449766	GOA
involved in protein K48-linked ubiquitination	IDA IDA: 通过直接分析推断	15673284	GOA
involved in protein ubiquitination	IDA IDA: 通过直接分析推断	24449766	GOA

细胞组分 GO 注释	逻辑证据	参考文献	来源
located in endoplasmic reticulum membrane	IDA IDA: 通过直接分析推断	15673284	GOA
located in membrane	IDA IDA: 通过直接分析推断	16373356	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

MARCHF6 蛋白结构

RINGv

0
200
400
600
800
910 a.a.

蛋白主名

其他名称

E3 ubiquitin-protein ligase MARCHF6

E3 ubiquitin-protein ligase MARCH6

MARCHF6 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	MARCHF6	O60337	ADGRE2	Homo sapiens	Q9UHX3	Validated Y2H	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

Epilepsy, Familial Adult Myoclonic, 3

FAME3	Fcmte3
Cortical Myoclonic Tremor With Epilepsy, Familial, 3	Familial Adult Myoclonic Epilepsy 3
Familial Cortical Myoclonic Tremor And Epilepsy 3	Epilepsy, Myoclonic, Familial Adult, Type 3

Familial Adult Myoclonic Epilepsy

Benign Adult Familial Myoclonus Epilepsy	Bafme
Benign Adult Familial Myoclonic Epilepsy	Fame
Familial Cortical Myoclonic Tremor And Epilepsy	Fcmte
Adcme	Autosomal Dominant Cortical Myoclonus And Epilepsy
Fam	Epilepsy, Myoclonic, Familial Adult
Epilepsy, Myoclonic, Benign Adult Familial, Type 2

Epilepsy, Familial Adult Myoclonic, 1

FAME1	Benign Adult Familial Myoclonic Epilepsy 1
Bafme1	Fcmte1
Cortical Myoclonic Tremor With Epilepsy, Familial, 1	Familial Adult Myoclonic Epilepsy 1
Familial Cortical Myoclonic Tremor And Epilepsy 1	Epilepsy, Myoclonic, Familial Adult, Type 1

Epilepsy, Familial Adult Myoclonic, 7

FAME7	Bafme7
Fcmte7	Benign Adult Familial Myoclonic Epilepsy 7
Cortical Myoclonic Tremor With Epilepsy, Familial, 7	Familial Adult Myoclonic Epilepsy 7
Familial Cortical Myoclonic Tremor And Epilepsy 7	Benign Adult Familial Myoclonic Epilepsy 27
Epilepsy, Myoclonic, Familial Adult, Type 7

Epilepsy, Familial Adult Myoclonic, 4

FAME4	Fcmte4
Cortical Myoclonic Tremor With Epilepsy, Familial, 4	Familial Adult Myoclonic Epilepsy 4
Epilepsy, Myoclonic, Familial Adult, 4	Familial Cortical Myoclonic Tremor And Epilepsy 4
Epilepsy, Myoclonic, Familial Adult, Type 4

Epilepsy, Familial Adult Myoclonic, 6

FAME6	Benign Adult Familial Myoclonic Epilepsy 6
Bafme6	Fcmte6
Cortical Myoclonic Tremor With Epilepsy, Familial, 6	Familial Adult Myoclonic Epilepsy 6
Familial Cortical Myoclonic Tremor And Epilepsy 6	Epilepsy, Myoclonic, Familial Adult, Type 6

Epilepsy, Familial Adult Myoclonic, 2

FAME2	Benign Adult Familial Myoclonic Epilepsy 2
Bafme2	Fcmte2
Adcme	Cortical Myoclonic Tremor With Epilepsy, Familial, 2
Cortical Myoclonus And Epilepsy, Autosomal Dominant	Familial Adult Myoclonic Epilepsy 2
Epilepsy, Myoclonic, Benign Adult Familial, Type 2	Autosomal Dominant Cortical Myoclonus And Epilepsy
Familial Cortical Myoclonic Tremor And Epilepsy 2	Epilepsy, Myoclonic, Familial Adult, Type 2

Intrahepatic Cholestasis

Cholestasis, Intrahepatic	Neonatal Intrahepatic Cholestasis
Cholestasis Intrahepatic	Cholestasis Of Pregnancy

Retinitis Pigmentosa 61

RP61	Retinitis Pigmentosa, Type 61

Cri-Du-Chat Syndrome

5p Deletion Syndrome	5p Partial Monosomy Syndrome
Monosomy 5p	Cat Cry Syndrome
Chromosome 5p Deletion Syndrome	Cri Du Chat Syndrome
5p- Syndrome	5p Minus Syndrome
Chromosome 5p- Syndrome	Chromosome 5 Short Arm Deletion Syndrome
Chromosome 5p Deletion	Deletion 5p
Cri Du Chat	5p Partial Deletion Syndrome
Partial Deletion Of Short Arm Of Chromosome 5 Syndrome

Mild Cognitive Impairment

Epilepsy

Epilepsy Syndrome	Epileptic Syndrome
Epilepsies	Symptomatic Epilepsies
Post Traumatic Epilepsy	Traumatic Epilepsy
Traumatic Epileptic	Epilepsy Due To Hippocampal Sclerosis
Epilepsy With Ammon'S Horn Sclerosis	Epilepsy Due To Cortical Dysplasia
Epilepsy Due To Neuronal Migration Disorders

Adolescence-Adult Electroclinical Syndrome

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-RS08144	MARCHF6 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	MARCHF6	MGD	MGI:2442773
Macaca mulatta	MARCHF6	VGNC	VGNC:74626
Felis catus	MARCHF6	VGNC	VGNC:97501
Rattus norvegicus	MARCHF6	RGD	RGD:1565757
Bos taurus	MARCHF6	VGNC	VGNC:31241
Canis familiaris	MARCHF6	VGNC	VGNC:43019

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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）

MARCHF6 - membrane associated ring-CH-type finger 6 Gene

关于 MARCHF6

功能概要

MARCHF6 基因产物(3)

MARCHF6 蛋白结构

MARCHF6 蛋白互作信息

关联疾病

直系同源

热门区域

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MARCHF6 - membrane associated ring-CH-type finger 6 Gene

关于 MARCHF6

功能概要

MARCHF6 基因产物(3)

MARCHF6 蛋白结构

MARCHF6 蛋白互作信息

关联疾病

相关产品

直系同源

热门区域

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B

C

F

G

H

J

L

N

Q

S

T

X

Y

Z